wikidoc - User contributions [en]

Tolosa-Hunt syndrome

2024-08-10T02:43:02Z

Rithish Nimmagadda:

__NOTOC__
{{CMG}} {{AE}} {{JC}} {{VSRN}}
{{Infobox disease |
Name = Tolosa–Hunt syndrome |
Image =Tolosa-hunt_ophtalmoplegia.jpg|
Caption = Neuro-ophthalmologic examination showing [[ophthalmoplegia]] in a patient with '''Tolosa–Hunt syndrome''', prior to treatment. The central image represents forward gaze, and each image around it represents gaze in that direction (for example, in the upper left image, the patient looks up and right; the left eye is unable to accomplish this movement). The examination shows [[Ptosis (eyelid)|ptosis]] of the left eyelid, [[exotropia]] (outward deviation) of the primary gaze of the left eye, and [[paresis]] (weakness) of the left [[Oculomotor nerve|third]], [[Trochlear nerve|fourth]] and [[Abducens nerve|sixth]] [[cranial nerves]].|
}}

==Overview==
'''Tolosa–Hunt syndrome''' ('''THS''') is a [[rare disease|rare disorder]] characterized by severe and unilateral [[headaches]] with extraocular [[:wikt:palsy|palsies]], usually involving the third, fourth, fifth, and sixth cranial nerves, and pain around the sides and back of the eye, along with weakness and paralysis ([[ophthalmoplegia]]) of certain eye muscles.<ref name=wni>{{cite web |url=http://www.whonamedit.com/synd.cfm/3307.html |title=Tolosa–Hunt syndrome | author= | publisher=Who Named It |accessdate=2008-01-21 |work=}}</ref>

In 2004, the International Headache Society provided a definition of the diagnostic criteria which included [[granuloma]].<ref name="pmid16776691">{{cite journal |author=La Mantia L, Curone M, Rapoport AM, Bussone G |title=Tolosa–Hunt syndrome: critical literature review based on IHS 2004 criteria |journal=[[Cephalalgia (journal)|Cephalalgia]] |volume=26 |issue=7 |pages=772–81 |year=2006 |pmid=16776691 |doi=10.1111/j.1468-2982.2006.01115.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0333-1024&date=2006&volume=26&issue=7&spage=772}}</ref>

==Causes==
The exact cause of THS is not known, but the disorder is thought to be, and often assumed to be, associated with inflammation of the areas behind the eyes ([[cavernous sinus]] and [[superior orbital fissure]]).On histopathology, there is a nonspecific inflammation of the septa and wall of the cavernous sinus, with a lymphocyte and plasma cell infiltration, giant cell granulomas, and proliferation of fibroblasts.Pressure and subsequent dysfunction of the cavernous sinus components, such as cranial nerves III, IV, and VI and the superior divisions of cranial nerve V, are caused by the inflammation.<ref name="PMID:13716871| author: HUNT WE| title: Painful opthalmoplegia. Its relation to indolent inflammation of the carvernous sinus. Neurology. 1961 Jan;11:56-62. doi: 10.1212/wnl.11.1.56.|PMID= 13716871| url=}}</ref>

==Signs and symptoms==
In one series, the median time interval between the onset of discomfort and cranial nerve palsy was two days. Patients report a persistent ache behind the eyes that may start many days (or even up to 30 days) before the double vision. One common description of the discomfort is that it is dull or gnawing.

Symptoms may subside without medical intervention, yet recur without a noticeable pattern.<ref name=nord>{{cite web |url=http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tolosa%20Hunt%20Syndrome |title= Tolosa Hunt Syndrome | author= | publisher=National Organization for Rare Disorders, Inc. |accessdate=2008-01-21 |format= |work=}}</ref>

In addition, affected individuals may experience paralysis of various facial nerves and drooping of the upper eyelid ([[ptosis (eyelid)|ptosis]]). Other signs include [[Diplopia|double vision]], [[fever]], chronic [[fatigue (medical)|fatigue]], [[vertigo]] or [[arthralgia]]. Occasionally the patient may present with a feeling of protrusion of one or botheyeballs ([[exophthalmos]]).<ref name=eMedicine/><ref name=nord/>

==Diagnosis==
THS is usually diagnosed via exclusion, and as such a vast amount of laboratory tests are required to rule out other causes of the patient's symptoms.<ref name=eMedicine/> These tests include a [[complete blood count]], [[thyroid]] function tests and [[serum protein electrophoresis]].<ref name=eMedicine/> Studies of [[cerebrospinal fluid]] may also be beneficial in distinguishing between THS and conditions with similar signs and symptoms.<ref name=eMedicine/>

[[MRI]] scans of the brain and [[orbit]] with and without contrast, [[magnetic resonance angiography]] or [[digital subtraction angiography]] and a [[CT scan]] of the brain and orbit with and without contrast may all be useful in detecting [[inflammation|inflammatory]] changes in the cavernous sinus, superior orbital fissure and/or orbital apex.<ref name=eMedicine/> Inflammatory change of the orbit on cross sectional imaging in the absence of cranial nerve palsy is described by the more benign and general nomenclature of [[orbital pseudotumor]].

Sometimes a [[biopsy]] may need to be obtained to confirm the diagnosis, as it is useful in ruling out a [[neoplasm]].<ref name=eMedicine/>

Blood and cerebrospinal fluid (CSF) testing should be part of the examination process if the MRI is normal or exhibits alterations that are consistent with cavernous sinus inflammation. This will help rule out other potential causes of orbital or cranial base inflammation. Among the suggested blood tests are:

Complete blood count; electrolytes; glucose and hemoglobin A1C; tests for kidney and liver function; angiotensin converting enzyme; antinuclear antibody; anti-double stranded deoxyribonucleic acid (anti-dsDNA) antibody; anti-Sm antibody; antineutrophil cytoplasmic antibody; fluorescent treponemal antibody test; lymphome serologies; serum protein electrophoresis; erythrocyte sedimentation rate (ESR); and C reactive protein
These results are often normal in people with Tolosa-Hunt syndrome [12]. While Tolosa-Hunt syndrome has been linked to case reports of high ESR, moderate leukocytosis, and antinuclear antibody concentrations, these anomalies should indicate an underlying connective tissue condition.

Here is a summary of the precise diagnostic standards that the International Headache Society has recommended:

A single-sided headache, as well as granulomatous inflammation of the orbit, superior orbital fissure, or cavernous sinus, as seen by an MRI or biopsy,
Paresis of one or more of the ipsilateral fourth, fifth, or sixth cranial nerves, as well as proof of both of the following in support of the cause:
•Headache either began concurrently with or ≤2 weeks before oculomotor paresis.
•Ipsilateral to the granulomatous inflammation is the headache.
Symptoms that a different diagnosis cannot adequately explain
The diagnosis of Tolosa-Hunt syndrome can be made with a high degree of sensitivity (95 to 100 percent) using these combined clinical and radiologic criteria.

Differentials to consider when diagnosing THS include [[craniopharyngioma]], [[migraine]] and [[meningioma]].<ref name=eMedicine/>

==Treatment==
Treatment of THS is usually completed using [[corticosteroids]] (often [[prednisolone]]) and immunosuppressive agents (such as [[methotrexate]] or [[azathioprine]]).<ref name=eMedicine/> Corticosteroids act as [[analgesia]] and reduce pain (usually within 24–72 hours), as well as reducing the inflammatory mass, whereas immunosuppressive agents help reduce the [[autoimmune]] response.<ref name=eMedicine/> Treatment is then continued in the same dosages for a further 7–10 days and then tapered slowly.<ref name=eMedicine/>

A suggested glucocorticoid regimen is:

Prednisone 80 to 100 mg daily for three days.
If the pain has resolved, taper to 60 mg daily, then 40 mg, then 20 mg, then 10 mg every two weeks.

[[Radiotherapy]] has also been proposed.<ref name="pmid15836581">{{cite journal |author=Foubert-Samier A, Sibon I, Maire JP, Tison F |title=Long-term cure of Tolosa–Hunt syndrome after low-dose focal radiotherapy |journal=Headache |volume=45 |issue=4 |pages=389–91 |year=2005 |pmid=15836581 |doi=10.1111/j.1526-4610.2005.05077_5.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0017-8748&date=2005&volume=45&issue=4&spage=389}}</ref>

==Prognosis==
The prognosis of THS is usually considered good. Patients usually respond to corticosteroids, and spontaneous remission can occur, although movement of ocular muscles may remain damaged.<ref name=eMedicine/> Roughly 30–40% of patients who are treated for THS experience a [[relapse]].<ref name=eMedicine/>

==Epidemiology==
THS is uncommon in both the [[United States]] and internationally. In New Zealand, there is only one recorded case .<ref name=eMedicine/> Both genders, male and female, are affected equally, and it typically occurs around the age of 60.<ref name=wni/>

==References==
{{reflist|2}}

[[Category:Neurological disorders]]
[[Category:Syndromes]]
[[Category:Rare diseases]]
[[Category:Abducens nerve]]

Tolosa-Hunt syndrome

2024-08-10T02:42:27Z

Rithish Nimmagadda:

__NOTOC__
{{CMG}} {{AE}} {{JC}} {{VSRN}}
{{Infobox disease |
Name = Tolosa–Hunt syndrome |
Image =Tolosa-hunt_ophtalmoplegia.jpg|
Caption = Neuro-ophthalmologic examination showing [[ophthalmoplegia]] in a patient with '''Tolosa–Hunt syndrome''', prior to treatment. The central image represents forward gaze, and each image around it represents gaze in that direction (for example, in the upper left image, the patient looks up and right; the left eye is unable to accomplish this movement). The examination shows [[Ptosis (eyelid)|ptosis]] of the left eyelid, [[exotropia]] (outward deviation) of the primary gaze of the left eye, and [[paresis]] (weakness) of the left [[Oculomotor nerve|third]], [[Trochlear nerve|fourth]] and [[Abducens nerve|sixth]] [[cranial nerves]].|
}}

==Overview==
'''Tolosa–Hunt syndrome''' ('''THS''') is a [[rare disease|rare disorder]] characterized by severe and unilateral [[headaches]] with extraocular [[:wikt:palsy|palsies]], usually involving the third, fourth, fifth, and sixth cranial nerves, and pain around the sides and back of the eye, along with weakness and paralysis ([[ophthalmoplegia]]) of certain eye muscles.<ref name=wni>{{cite web |url=http://www.whonamedit.com/synd.cfm/3307.html |title=Tolosa–Hunt syndrome | author= | publisher=Who Named It |accessdate=2008-01-21 |work=}}</ref>

In 2004, the International Headache Society provided a definition of the diagnostic criteria which included [[granuloma]].<ref name="pmid16776691">{{cite journal |author=La Mantia L, Curone M, Rapoport AM, Bussone G |title=Tolosa–Hunt syndrome: critical literature review based on IHS 2004 criteria |journal=[[Cephalalgia (journal)|Cephalalgia]] |volume=26 |issue=7 |pages=772–81 |year=2006 |pmid=16776691 |doi=10.1111/j.1468-2982.2006.01115.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0333-1024&date=2006&volume=26&issue=7&spage=772}}</ref>

==Causes==
The exact cause of THS is not known, but the disorder is thought to be, and often assumed to be, associated with inflammation of the areas behind the eyes ([[cavernous sinus]] and [[superior orbital fissure]]).On histopathology, there is a nonspecific inflammation of the septa and wall of the cavernous sinus, with a lymphocyte and plasma cell infiltration, giant cell granulomas, and proliferation of fibroblasts.Pressure and subsequent dysfunction of the cavernous sinus components, such as cranial nerves III, IV, and VI and the superior divisions of cranial nerve V, are caused by the inflammation.<ref name="PMID:13716871| author: HUNT WE| title: Painful opthalmoplegia. Its relation to indolent inflammation of the carvernous sinus. Neurology. 1961 Jan;11:56-62. doi: 10.1212/wnl.11.1.56.|PMID= 13716871| url=}}</ref>

==Signs and symptoms==
In one series, the median time interval between the onset of discomfort and cranial nerve palsy was two days. Patients report a persistent ache behind the eyes that may start many days (or even up to 30 days) before the double vision. One common description of the discomfort is that it is dull or gnawing.<ref name="PMID:29169256| author: Mullen E| title: Tolosa-Hunt Syndrome: Appraising the ICHD-3 beta diagnostic criteria. Cephalalgia. 2018 Sep;38(10):1696-1700. doi: 10.1177/0333102417745271. Epub 2017 Nov 23.|PMID= 29169256| url=}}</ref>

Symptoms may subside without medical intervention, yet recur without a noticeable pattern.<ref name=nord>{{cite web |url=http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tolosa%20Hunt%20Syndrome |title= Tolosa Hunt Syndrome | author= | publisher=National Organization for Rare Disorders, Inc. |accessdate=2008-01-21 |format= |work=}}</ref>

In addition, affected individuals may experience paralysis of various facial nerves and drooping of the upper eyelid ([[ptosis (eyelid)|ptosis]]). Other signs include [[Diplopia|double vision]], [[fever]], chronic [[fatigue (medical)|fatigue]], [[vertigo]] or [[arthralgia]]. Occasionally the patient may present with a feeling of protrusion of one or botheyeballs ([[exophthalmos]]).<ref name=eMedicine/><ref name=nord/>

==Diagnosis==
THS is usually diagnosed via exclusion, and as such a vast amount of laboratory tests are required to rule out other causes of the patient's symptoms.<ref name=eMedicine/> These tests include a [[complete blood count]], [[thyroid]] function tests and [[serum protein electrophoresis]].<ref name=eMedicine/> Studies of [[cerebrospinal fluid]] may also be beneficial in distinguishing between THS and conditions with similar signs and symptoms.<ref name=eMedicine/>

[[MRI]] scans of the brain and [[orbit]] with and without contrast, [[magnetic resonance angiography]] or [[digital subtraction angiography]] and a [[CT scan]] of the brain and orbit with and without contrast may all be useful in detecting [[inflammation|inflammatory]] changes in the cavernous sinus, superior orbital fissure and/or orbital apex.<ref name=eMedicine/> Inflammatory change of the orbit on cross sectional imaging in the absence of cranial nerve palsy is described by the more benign and general nomenclature of [[orbital pseudotumor]].

Sometimes a [[biopsy]] may need to be obtained to confirm the diagnosis, as it is useful in ruling out a [[neoplasm]].<ref name=eMedicine/>

Blood and cerebrospinal fluid (CSF) testing should be part of the examination process if the MRI is normal or exhibits alterations that are consistent with cavernous sinus inflammation. This will help rule out other potential causes of orbital or cranial base inflammation. Among the suggested blood tests are:

Complete blood count; electrolytes; glucose and hemoglobin A1C; tests for kidney and liver function; angiotensin converting enzyme; antinuclear antibody; anti-double stranded deoxyribonucleic acid (anti-dsDNA) antibody; anti-Sm antibody; antineutrophil cytoplasmic antibody; fluorescent treponemal antibody test; lymphome serologies; serum protein electrophoresis; erythrocyte sedimentation rate (ESR); and C reactive protein
These results are often normal in people with Tolosa-Hunt syndrome [12]. While Tolosa-Hunt syndrome has been linked to case reports of high ESR, moderate leukocytosis, and antinuclear antibody concentrations, these anomalies should indicate an underlying connective tissue condition.

Here is a summary of the precise diagnostic standards that the International Headache Society has recommended:

A single-sided headache, as well as granulomatous inflammation of the orbit, superior orbital fissure, or cavernous sinus, as seen by an MRI or biopsy,
Paresis of one or more of the ipsilateral fourth, fifth, or sixth cranial nerves, as well as proof of both of the following in support of the cause:
•Headache either began concurrently with or ≤2 weeks before oculomotor paresis.
•Ipsilateral to the granulomatous inflammation is the headache.
Symptoms that a different diagnosis cannot adequately explain
The diagnosis of Tolosa-Hunt syndrome can be made with a high degree of sensitivity (95 to 100 percent) using these combined clinical and radiologic criteria.

Differentials to consider when diagnosing THS include [[craniopharyngioma]], [[migraine]] and [[meningioma]].<ref name=eMedicine/>

==Treatment==
Treatment of THS is usually completed using [[corticosteroids]] (often [[prednisolone]]) and immunosuppressive agents (such as [[methotrexate]] or [[azathioprine]]).<ref name=eMedicine/> Corticosteroids act as [[analgesia]] and reduce pain (usually within 24–72 hours), as well as reducing the inflammatory mass, whereas immunosuppressive agents help reduce the [[autoimmune]] response.<ref name=eMedicine/> Treatment is then continued in the same dosages for a further 7–10 days and then tapered slowly.<ref name=eMedicine/>

A suggested glucocorticoid regimen is:

Prednisone 80 to 100 mg daily for three days.
If the pain has resolved, taper to 60 mg daily, then 40 mg, then 20 mg, then 10 mg every two weeks.

[[Radiotherapy]] has also been proposed.<ref name="pmid15836581">{{cite journal |author=Foubert-Samier A, Sibon I, Maire JP, Tison F |title=Long-term cure of Tolosa–Hunt syndrome after low-dose focal radiotherapy |journal=Headache |volume=45 |issue=4 |pages=389–91 |year=2005 |pmid=15836581 |doi=10.1111/j.1526-4610.2005.05077_5.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0017-8748&date=2005&volume=45&issue=4&spage=389}}</ref>

==Prognosis==
The prognosis of THS is usually considered good. Patients usually respond to corticosteroids, and spontaneous remission can occur, although movement of ocular muscles may remain damaged.<ref name=eMedicine/> Roughly 30–40% of patients who are treated for THS experience a [[relapse]].<ref name=eMedicine/>

==Epidemiology==
THS is uncommon in both the [[United States]] and internationally. In New Zealand, there is only one recorded case .<ref name=eMedicine/> Both genders, male and female, are affected equally, and it typically occurs around the age of 60.<ref name=wni/>

==References==
{{reflist|2}}

[[Category:Neurological disorders]]
[[Category:Syndromes]]
[[Category:Rare diseases]]
[[Category:Abducens nerve]]

User:Rithish Nimmagadda

2024-08-10T02:34:21Z

Rithish Nimmagadda: /* Pages Authored */

<nowiki>
__NOTOC__
==Your Name==
''' Rithish Nimmagadda,MBBS

Research scholar
 Contact:945-278-1660 
Email: rithishnvs@gmail.com [mailto:rithishnvs@gmail.com] 

==Current Position==
* research scholar (list chapters here) 

==Education==
Medical Degree from Kamineni Academy of Medical sciences and research centre , Hyderabad , India

==Pages Authored==

<div style="-moz-column-count:8; column-count:2;">

#[[Epcoritamab-bysp]]
#[[Elfabrio]]
#[[Mirikizumab-mrkz]]
#[[Bimekizumab]]
#[[Lotilaner]]
#[[Quizartinib]]
#[[Ritlecitinib]]
#[[Tofersen]]
#[[Retifanlimab-dlwr]]
#[[Velmanase alfa-tycv]]
#[[Elacestrant]]
#[[Pirtobrutinib]]
#[[vonoprazan, amoxicillin, and clarithromycin]]
#[[Iptacopa]]
#[[GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME]]
#[[Rumination disorder]]
#[[Birt-Hogg-Dubé syndrome]]
#[[Ischemic hepatitis]]
#[[Diffuse intrinsic pontine glioma]]
#[[Myelin oligodendrocyte glycoprotein antibody-associated disease]]
#[[Tolosa-Hunt syndrome]]

==Pages Co-authored/Collaborated==

#[[Eosinophilic esophagitis medical therapy]]
#[[Migraine]]
#[[Cardiac amyloidosis]]
#[[Aspergillosis]]

Tolosa-Hunt syndrome

2024-08-10T02:33:52Z

Rithish Nimmagadda:

__NOTOC__
{{CMG}} {{AE}} {{JC}} {{VSRN}}
{{Infobox disease |
Name = Tolosa–Hunt syndrome |
Image =Tolosa-hunt_ophtalmoplegia.jpg|
Caption = Neuro-ophthalmologic examination showing [[ophthalmoplegia]] in a patient with '''Tolosa–Hunt syndrome''', prior to treatment. The central image represents forward gaze, and each image around it represents gaze in that direction (for example, in the upper left image, the patient looks up and right; the left eye is unable to accomplish this movement). The examination shows [[Ptosis (eyelid)|ptosis]] of the left eyelid, [[exotropia]] (outward deviation) of the primary gaze of the left eye, and [[paresis]] (weakness) of the left [[Oculomotor nerve|third]], [[Trochlear nerve|fourth]] and [[Abducens nerve|sixth]] [[cranial nerves]].|
}}

==Overview==
'''Tolosa–Hunt syndrome''' ('''THS''') is a [[rare disease|rare disorder]] characterized by severe and unilateral [[headaches]] with extraocular [[:wikt:palsy|palsies]], usually involving the third, fourth, fifth, and sixth cranial nerves, and pain around the sides and back of the eye, along with weakness and paralysis ([[ophthalmoplegia]]) of certain eye muscles.<ref name=wni>{{cite web |url=http://www.whonamedit.com/synd.cfm/3307.html |title=Tolosa–Hunt syndrome | author= | publisher=Who Named It |accessdate=2008-01-21 |work=}}</ref>

In 2004, the International Headache Society provided a definition of the diagnostic criteria which included [[granuloma]].<ref name="pmid16776691">{{cite journal |author=La Mantia L, Curone M, Rapoport AM, Bussone G |title=Tolosa–Hunt syndrome: critical literature review based on IHS 2004 criteria |journal=[[Cephalalgia (journal)|Cephalalgia]] |volume=26 |issue=7 |pages=772–81 |year=2006 |pmid=16776691 |doi=10.1111/j.1468-2982.2006.01115.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0333-1024&date=2006&volume=26&issue=7&spage=772}}</ref>

==Causes==
The exact cause of THS is not known, but the disorder is thought to be, and often assumed to be, associated with inflammation of the areas behind the eyes ([[cavernous sinus]] and [[superior orbital fissure]]).On histopathology, there is a nonspecific inflammation of the septa and wall of the cavernous sinus, with a lymphocyte and plasma cell infiltration, giant cell granulomas, and proliferation of fibroblasts.Pressure and subsequent dysfunction of the cavernous sinus components, such as cranial nerves III, IV, and VI and the superior divisions of cranial nerve V, are caused by the inflammation.<ref name="PMID:13716871| author: HUNT WE| title: Painful opthalmoplegia. Its relation to indolent inflammation of the carvernous sinus. Neurology. 1961 Jan;11:56-62. doi: 10.1212/wnl.11.1.56.|PMID= 13716871| url=}}</ref>

==Signs and symptoms==
In one series, the median time interval between the onset of discomfort and cranial nerve palsy was two days. Patients report a persistent ache behind the eyes that may start many days (or even up to 30 days) before the double vision. One common description of the discomfort is that it is dull or gnawing.<ref name="PMID:29169256| author: Mullen E| title: Tolosa-Hunt Syndrome: Appraising the ICHD-3 beta diagnostic criteria. Cephalalgia. 2018 Sep;38(10):1696-1700. doi: 10.1177/0333102417745271. Epub 2017 Nov 23.|PMID= 29169256| url=}}</ref>

Symptoms may subside without medical intervention, yet recur without a noticeable pattern.<ref name=nord>{{cite web |url=http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tolosa%20Hunt%20Syndrome |title= Tolosa Hunt Syndrome | author= | publisher=National Organization for Rare Disorders, Inc. |accessdate=2008-01-21 |format= |work=}}</ref>

In addition, affected individuals may experience paralysis of various facial nerves and drooping of the upper eyelid ([[ptosis (eyelid)|ptosis]]). Other signs include [[Diplopia|double vision]], [[fever]], chronic [[fatigue (medical)|fatigue]], [[vertigo]] or [[arthralgia]]. Occasionally the patient may present with a feeling of protrusion of one or botheyeballs ([[exophthalmos]]).<ref name=eMedicine/><ref name=nord/>

==Diagnosis==
THS is usually diagnosed via exclusion, and as such a vast amount of laboratory tests are required to rule out other causes of the patient's symptoms.<ref name=eMedicine/> These tests include a [[complete blood count]], [[thyroid]] function tests and [[serum protein electrophoresis]].<ref name=eMedicine/> Studies of [[cerebrospinal fluid]] may also be beneficial in distinguishing between THS and conditions with similar signs and symptoms.<ref name=eMedicine/>

[[MRI]] scans of the brain and [[orbit]] with and without contrast, [[magnetic resonance angiography]] or [[digital subtraction angiography]] and a [[CT scan]] of the brain and orbit with and without contrast may all be useful in detecting [[inflammation|inflammatory]] changes in the cavernous sinus, superior orbital fissure and/or orbital apex.<ref name=eMedicine/> Inflammatory change of the orbit on cross sectional imaging in the absence of cranial nerve palsy is described by the more benign and general nomenclature of [[orbital pseudotumor]].

Sometimes a [[biopsy]] may need to be obtained to confirm the diagnosis, as it is useful in ruling out a [[neoplasm]].<ref name=eMedicine/>

Blood and cerebrospinal fluid (CSF) testing should be part of the examination process if the MRI is normal or exhibits alterations that are consistent with cavernous sinus inflammation. This will help rule out other potential causes of orbital or cranial base inflammation. Among the suggested blood tests are:

Complete blood count; electrolytes; glucose and hemoglobin A1C; tests for kidney and liver function; angiotensin converting enzyme; antinuclear antibody; anti-double stranded deoxyribonucleic acid (anti-dsDNA) antibody; anti-Sm antibody; antineutrophil cytoplasmic antibody; fluorescent treponemal antibody test; lymphome serologies; serum protein electrophoresis; erythrocyte sedimentation rate (ESR); and C reactive protein
These results are often normal in people with Tolosa-Hunt syndrome [12]. While Tolosa-Hunt syndrome has been linked to case reports of high ESR, moderate leukocytosis, and antinuclear antibody concentrations, these anomalies should indicate an underlying connective tissue condition.

Here is a summary of the precise diagnostic standards that the International Headache Society has recommended:

A single-sided headache, as well as granulomatous inflammation of the orbit, superior orbital fissure, or cavernous sinus, as seen by an MRI or biopsy,
Paresis of one or more of the ipsilateral fourth, fifth, or sixth cranial nerves, as well as proof of both of the following in support of the cause:
•Headache either began concurrently with or ≤2 weeks before oculomotor paresis.
•Ipsilateral to the granulomatous inflammation is the headache.
Symptoms that a different diagnosis cannot adequately explain
The diagnosis of Tolosa-Hunt syndrome can be made with a high degree of sensitivity (95 to 100 percent) using these combined clinical and radiologic criteria.

Differentials to consider when diagnosing THS include [[craniopharyngioma]], [[migraine]] and [[meningioma]].<ref name=eMedicine/>

==Treatment==
Treatment of THS is usually completed using [[corticosteroids]] (often [[prednisolone]]) and immunosuppressive agents (such as [[methotrexate]] or [[azathioprine]]).<ref name=eMedicine/> Corticosteroids act as [[analgesia]] and reduce pain (usually within 24–72 hours), as well as reducing the inflammatory mass, whereas immunosuppressive agents help reduce the [[autoimmune]] response.<ref name=eMedicine/> Treatment is then continued in the same dosages for a further 7–10 days and then tapered slowly.<ref name=eMedicine/>

[[Radiotherapy]] has also been proposed.<ref name="pmid15836581">{{cite journal |author=Foubert-Samier A, Sibon I, Maire JP, Tison F |title=Long-term cure of Tolosa–Hunt syndrome after low-dose focal radiotherapy |journal=Headache |volume=45 |issue=4 |pages=389–91 |year=2005 |pmid=15836581 |doi=10.1111/j.1526-4610.2005.05077_5.x |url=http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0017-8748&date=2005&volume=45&issue=4&spage=389}}</ref>

==Prognosis==
The prognosis of THS is usually considered good. Patients usually respond to corticosteroids, and spontaneous remission can occur, although movement of ocular muscles may remain damaged.<ref name=eMedicine/> Roughly 30–40% of patients who are treated for THS experience a [[relapse]].<ref name=eMedicine/>

==Epidemiology==
THS is uncommon in both the [[United States]] and internationally. In New Zealand, there is only one recorded case .<ref name=eMedicine/> Both genders, male and female, are affected equally, and it typically occurs around the age of 60.<ref name=wni/>

==References==
{{reflist|2}}

[[Category:Neurological disorders]]
[[Category:Syndromes]]
[[Category:Rare diseases]]
[[Category:Abducens nerve]]

WikiDoc Scholars

2024-08-04T21:55:18Z

Rithish Nimmagadda: /* WikiDoc Scholars */

__NOTOC__

The following individuals have made significant academic contributions to the Wiki''Doc'' Foundation as judged by C. Michael Gibson, M.S., M.D.

Wiki''Doc'' would not exist without the tireless efforts of these volunteers. The ranking system below reflects the quality and intensity of volunteer efforts on the site.

==Matthew Southard Scholars Award==
{| class="wikitable"
|-
! Year Presented
! Recipient Name
! Description
|-
| 2014
| Christopher Popma, B.S.
| This award is given in recognition of Mr. Popma's creation of a free, online, pill identifier, and the creation of a template system whereby members of the WikiDoc team can add information from FDA labels so that drug information on WikiDoc is both accurate and unbiased
|-
| 2014
| Rim Halaby, M.D.
| This award is given in recognition of Dr. Halaby's leadership in creating free, online, resident survival guides
|-
| 2014
| Gerald Chi, M.D.
| This award is given in recognition of Dr. Chi's leadership in creating free, online, resources pertaining to infectious disease
|-
|2015
| Serge Korjian, M.D.
| This award is given in recognition of Dr. Korjian's leadership in co-creating the WikiDoc Board Review, a free, online bank of USMLE-style questions
|-
| 2015
| Yazan Daaboul, M.D.
| This award is given in recognition of Dr. Daaboul's leadership in co-creating the WikiDoc Board Review, a free, online bank of USMLE-style questions
|}

== HEART Award (Hard work, Emotional intelligence, Ambition, Resilience and Teamwork) ==
{| class="wikitable"
|+
!Year Presented
!Recepient Name
!Description
|-
|2018
|Syed Hassan Abbas Kazmi, M.D.
| rowspan="4" |This award is given annually to WikiDoc leaders for their contribution and leadership.
|-
|2018
|Sudarshana Datta, M.D.
|-
|2020
|Syed Hassan Abbas Kazmi, M.D.
|-
|2020
|Sabawoon Mirwais, M.B.B.S.
|}

==WikiDoc Scholars with Highest Distinction==
Through their tireless years of volunteer efforts, the following scholars have made major contributions to WikiDoc:

(In alphabetical order)

*'''Ochuko Ajari:''' Deputy Director Crowd Diagnosis (''Jan. 2013 - Jun. 2016'')
*'''Jacki Buros:''' Site Administrator and Creation of Site (''Jan. 2006 - Present'')
*'''Gerald Chi:''' Deputy Director FDA Drug Label Project, Deputy Editor-In-Chief (''Apr. 2013 - Present'')
*'''Yazan Daaboul:''' Deputy Director Resident Survival Guide; Deputy Director WikiDoc Board Review; Deputy Editor-In-Chief; Edited Numerous Nephrology, Infectious Disease and Oncology Pages (''Feb. 2013 - Present'')
*'''Will Gibson:''' Organized WikiPatient; Director of WikiDoc Board Review (''Aug. 2007 - Present'')
*'''Lakshmi Gopalakrishnan:''' Edited Numerous Pages for WikiDoc and WikiPatient; Created Site Microchapter System (''Feb. 2011 - May 2012'')
*'''Aditya Govindavarjhulla:''' Edited Numerous Pages; Created Site Microchapter System (''Apr. 2012 - Apr. 2013'')
*'''Rim Halaby:''' Deputy Director Resident Survival Guide, Deputy Director WikiDoc Board Review, Deputy Editor-In-Chief; Edited Numerous Cardiology Pages (''Oct. 2012 - May 2015'')
*'''Serge Korjian:''' Deputy Director Resident Survival Guide; Deputy Director WikiDoc Board Review; Deputy Editor-In-Chief; Edited Numerous Cardiology, Infectious Disease and Oncology Pages (''Feb. 2013 - Present'')
*'''Varun Kumar:''' Edited Numerous Pages for WikiDoc and WikiPatient; Created Site Microchapter Templates and System (''Feb. 2011 - Sep. 2012'')
*'''Chris Popma:''' Edited Numerous Pages within Cardiology, Congenital Heart Disease, and WikiPatient; Director of Pill Identifier Project; Created Site Microchapter System (''Jun. 2013 - Nov. 2014'')
*'''Priyamvada Singh:''' Edited Numerous Pages within Cardiology, Congenital Heart Disease, and WikiPatient; Created Site Microchapter System (''Jun. 2011 - Dec. 2013'')
*'''Cafer Zorkun:''' Major Editor of English Pages for WikiDoc; Added thousands of Pathology Images; Launched Turkish WikiDoc (''Aug. 2007 - Dec. 2011'')

==WikiDoc Scholars with Distinction==
Through their tireless months of volunteer efforts, the following scholars have made significant contributions to WikiDoc:

(In alphabetical order)

*'''Turky Alkathery:''' Deputy Co-Director FDA Label Drug Project, Deputy Co-Director Oncology Project (''Mar. 2015 - June 2017'')
*'''Haytham Allaham:''' Edited Numerous Oncology Pages (''Sep. 2015 - Mar. 2016'')
*'''Alonso Alvarado:''' Deputy Co-Director FDA Label Drug Project (''Mar. 2014 - Oct. 2014'')
*'''João André Alves Silva:''' Infectious Disease Topics (''Sep. 2013 - Feb. 2015'')
*'''Sowminya Arikapudi:''' Edited Numerous Oncology and Infectious Disease Pages (''Aug. 2015 - Mar. 2016'')
*'''Deepika Beereddy:''' Deputy Co-Director FDA Label Drug Project (''Aug. 2014 - Jan. 2015'')
*'''Rabin Bista:''' Deputy Co-Director FDA Label Drug Project (''Jan. 2015 - Apr. 2015'')
*'''Shanshan Cen:''' Deputy Co-Director FDA Label Drug Project (''May 2015 - Jan. 2016'')
*'''Monalisa Dmello:''' Deputy Co-Director FDA Label Drug Project; Edited Oncology Pages (''Jun. 2015 - Nov. 2015'')
*'''Meagan Doherty:''' Open Source Content Related to Pharmaceutical Agents; Edited Numerous WikiPatient Pages (''Jul. 2007 - Dec. 2012'')
*'''Kalsang Dolma:''' Edited Numerous Pages; Created Site Microchapter System (''Jul. 2012 - Jun. 2013'')
*'''John Fani Srour:''' Crowd Diagnosis Project (''Jan. 2009 - Sep. 2009'')
*'''Michael Andrew Gibson:''' Created Legacy Pages for the Clinical Trials Wiki (''Jun. 2009 - Jul. 2009'')
*'''Caitlin Harrigan:''' Crowd Diagnosis Project (''2006 - 2007'')
*'''Adeel Jamil:''' Deputy Co-Director FDA Label Drug Project (''Dec. 2014 - May 2015'')
*'''Maryse Levacher:''' Launched WikiDoc Francais; Managing Editor of WikiDoc Francais (''2009'')
*'''Laura Linnemeir:''' Edited Numerous Pages (''2009'')
*'''Sara Mehrsefat:''' Edited Numerous Cardiology Pages (''June 2016 - Dec. 2016'')
*'''Navin Nethala:''' Deputy Co-Director FDA Label Drug Project (''Jun. 2008 - May 2009'')
*'''Ayokunle Olubaniyi:''' Edited Numerous Pages including Resident Survival Guide (''Aug. 2013 - May 2014'')
*'''Mugilan Poongkunran:''' Edited Numerous Pages; Created Thousands of WikiDoc Board Review Flash Cards (''Jul. 2013 - Feb. 2015'')
*'''Raviteja Reddy Guddeti:''' Edited Numerous Pages; Created Site Microchapter System (''Mar. 2012 - Sep. 2014'')
*'''Gonzalo Romero:''' Edited Numerous Pages for WikiDoc Board Review Project (''Apr. 2013 - Mar. 2014'')
*'''Sujit Routray:''' Edited Numerous Oncology Pages (''Aug. 2015 - Apr. 2016'')
*'''Prashanth Saddala:''' Edited Numerous Pages; Created Site Microchapter System (''Feb. 2012 - Apr. 2013'')
*'''Vishnu Vardhan Serla:''' Edited Numerous Pages; Created Site Microchapter System (''Aug. 2012 - Oct. 2013'')
*'''Maliha Shakil:''' Edited Numerous Overview Statements and Infectious Disease Pages (''Aug. 2015 - Mar. 2016'')
*'''Shi Sheng:''' Deputy Co-Director FDA Label Drug Project (''Nov. 2013 - Oct. 2014'')
*'''Kiran Singh:''' Deputy Co-Director FDA Label Drug Project; Edited Causes Pages (''Jul. 2014 - Jan. 2016'')
*'''Marshall Sumter:''' Significant Original Contributions to Basic Science Content (''Feb. 2009 - Oct. 2009'')
*'''Ammu Susheela:''' Deputy Co-Director FDA Label Drug Project (''Jun. 2014 - May 2016'')
*'''Umer Tariq:''' Crowd Diagnosis Project (''2009'')
*'''Allison Tu:''' FDA Label Drug Project; Edited Numerous Pages Correcting Grammar (''July 2017 - Aug. 2017'')
*'''Maria Villarreal:''' Edited Numerous Oncology Pages (Dec. 2015 - Jun. 2016)
*'''Aparna Vuppala:''' Deputy Co-Director FDA Label Drug Project; Edited Numerous Chemotherapy Pages (''Jan. 2015 - Jul. 2015'')
*'''Scott Williams:''' Edited Pages related to Genetic Diseases (''Aug. 2007 - May 2012'')
*'''Jinhui Wu:''' Edited Numerous WikiPatient Pages (''Jul. 2009 - May 2010'')
*'''Ahmed Zaghw:''' Deputy Co-Director FDA Label Drug Project (''Nov. 2013 - Apr. 2014'')

==WikiDoc Scholars==
(In alphabetical order)

*'''Mohammed Medhat Elsayed Abdelwahed:''' Edited Pages (''Jun. 2017 - Jun. 2018'')
*'''Qurrat-Ul-Ain Abid''' Edited Pages (''Dec. 2018 - May 2019'')
*'''Abdelrahman Ibrahim Abushouk:''' Edited Pages (''Oct. 2019 - Present'')
*'''Roukoz Abou Karam:''' Edited Pages (''Sept. 2018 - Present'')
*'''Rithish Nimmagadda:''' Edited Pages (''April. 2024 - present'')
*'''Muhammed Affan:''' Edited Pages (''Oct. 2018 - Jun. 2019'')
*'''Muhammed Khurram Afzal:''' Edited Pages (''Nov. 2017 - Jun. 2019'')
*'''Umar Ahmad:''' Edited Pages (''Oct. 2017 - Dec. 2017'')
*'''Omodamola Aje:''' Edited Pages (''May 2017 - Jun. 2018'')
*'''Kamal Akbar:''' (''Nov. 2018 - Oct. 2019'')
*'''Ali Akram:''' Edited Pages (''Oct. 2018 - Jun. 2019'')
*'''Ahmad Al Maradni:''' Edited Pages (''Aug. 2015 - Oct. 2015'')
*'''Vellayat Ali:''' Edited Pages (''Nov. 2017 - Apr. 2018'')
*'''Syed Musadiq Ali:''' Edited Pages (''Oct. 2018 - Present'')
*'''Mahda Alihashemi:''' Edited Numerous Oncology Pages (''Oct. 2017 - Present'')
*'''Mohamad Al-Kateb:''' Edited Numerous Oncology Pages (''Aug. 2015 - Nov. 2015'')
*'''Saarah Alkahiry:''' Edited Numerous Pulmonary and Oncology Pages (''Jun. 2015 - Aug. 2015'')
*'''Ahmad Al Maradni:''' Edited Numerous Oncology Pages (''Aug. 2015 - Oct. 2015'')
*'''Alexandra Almonacid:''' Added Interventional Cardiology Content (''Jun. 2007 - Mar. 2008'')
*'''Pilar Almonacid:''' Open Source Basic Science Content; Open Source Content from the CDC (''Aug. 2007 - Feb. 2008'')
*'''Aimee Angle:''' Edited Pages (''Nov. 2014 - Dec. 2014'')
*'''Theresa Stahl Aramburu:''' Edited Pages
*'''Yashiasvi Aryaputra:''' Edited Cardiology and Infectious Disease Pages (''Jun. 2018 - Aug. 2018, Dec. 2018 - Jan. 2019'')
*'''Aysha Aslam:''' Edited Cardiology and Infectious Disease Pages (''Aug. 2016 - Jan. 2017'')
*'''Pratik Bahekar:''' Edited Numerous Psychiatry Pages (''Jan. 2014 - Dec. 2014'')
*'''Mohsen Basiri:''' Edited Pages (''Apr. 2018 - Present'')
*'''Vindhya Bellamkonda:''' Edited Pages (''Jul. 2017 - Aug. 2018'')
*'''Steven Bellm:''' Edited Some Resident Survival Guide Pages (''Feb. 2015 - Mar. 2015'')
*'''Vidit Bhargava:''' Edited Numerous Pages including Resident Survival Guide (''Nov. 2013 - Mar. 2014'')
*'''Rohan Bhimani:''' (''Nov. 2018 - Feb. 2019'')
*'''Leah Biller:''' Edited Numerous Pages (''Jan. 2008 - Sep. 2009'')
*'''Fatimo Biobaku:''' Edited Numerous Infectious Disease Pages (''Nov. 2016 - May 2017'')
*'''Masoud Bitarafan:''' Edited Pages (''Jul. 2019 - Dec. 2019'')
*'''Grendel Burrell:''' Preparation of New Stories (''Jul. 2007'')
*'''Shivani Chaparala:''' Edited Pages and FDA Label Drug Project (''Oct. 2016 - Apr. 2017'')
*'''Vanessa Cherniauskas:''' Edited Numerous Pages (''Nov. 2013'')
*'''Mandana Chitsazan:''' Edited Pages (''Jun. 2019 - Present'')
*'''Jyostna Chouturi:''' Edited Pages (''Jun. 2015 - Feb. 2016'')
*'''Madeleine Cochet:''' Edited Pages (''Jul. 2013 - May 2016'')
*'''Rebecca Cohen:''' Organized Gallery Images, Cost-Effectiveness of Treatment (''Jun. 2015 - Aug. 2015'')
*'''Christopher Crowley:''' Edited Numerous Pages (''2008'')
*'''Sudarshana Datta:''' Edited Pages (''Oct. 2017 - Jun. 2019'')
*'''Vishal Devarkonda:''' Edited Pages and FDA Label Drug Project (''Oct. 2016 - Mar. 2017'')
*'''Parminder Dhingra:''' Edited Numerous Oncology Pages (''Aug. 2015 - Jan. 2016'')
*'''Jacquelyne DiTroia:''' Organized Gallery Images (''Jun. 2015 - Jul. 2015'')
*'''Prince Djan:''' Edited Cardiology and Infectious Disease Pages (''Aug. 2016 - Mar. 2017'')
*'''Gertrude Djouka:''' (''Dec. 2018 - Feb. 2020'')
*'''Irfan Dotani:''' Edited Numerous Pages (''Jul. 2016 - Aug. 2016; Jul. 2018 - Aug. 2018'')
*'''Ahmed Elsaiey:''' (''Feb. 2017 - Present'')
*'''Alara Eren:''' Added Numerous Images (''2008'')
*'''Giselle Falconi:''' Edited Psychiatry pages ''(Jun. 2018)''
*'''Mazia Fatima:''' Edited Psychiatry pages ''(Aug. 2017 - Apr. 2018)''
*'''Kristin Feeney:''' Edited Numerous Pages (''Feb. 2011 - Oct. 2013'')
*'''Nazia Fuad:''' Edited pages ''(Jul. 2018 - Jan. 2019)''
*'''Muhammad Furqan:''' Edited pages ''(Jun. 2017 - Mar. 2018)''
*'''Ajay Gade:''' Edited pages ''(Aug. 2017 - Jun. 2018)''
*'''Anthony Gallo:''' Edited Numerous Infectious Disease Pages (''Sep. 2015 - June 2017'')
*'''Aditya Ganti:''' Edited pages (''Jan. 2017 - Present'')
*'''Sonya Gelfand:''' Edited pages (''Jun. 2018 - Aug. 2018'')
*'''Karol Gema Hernandez:''' Edited Pages (''Dec. 2013 - Jan. 2014'')
*'''Eiman Ghaffarpasand:''' Edited Pages (''Jul. 2017 - Jun. 2018'')
*'''Ramyar Ghandriz:''' Edited Pages (''Aug. 2019 - Present'')
*'''Stefano Giannoni:''' Edited Pages (''Jan. 2015 - Feb. 2015'')
*'''Kashish Goel:''' Edited Numerous Pages (''Sep. 2011 - May 2012'')
*'''Sogand Goudarzi:''' Edited Pages (''Jul. 2018 - Present'')
*'''Anum Gull:''' Edited Pages (''Oct. 2018 - Dec. 2019'')
*'''Vamsikrishan Gunnam:''' Edited Pages (''Nov. 2017 - Present'')
*'''Shaghayegh Habibi:''' Edited Pages (''Jan. 2018 - Jul. 2018'')
*'''Farwa Haideri:''' Edited Numerous Infectious Disease Pages (''Sep. 2015 - Feb. 2017'')
*'''Rasam Hajiannasab:''' Edited Pages (''Sep. 2017 - Oct. 2017'')
*'''Erin Harrington:''' Added Content to Clinical Trials Wiki (''2009'')
*'''Christeen Henen:''' Edited Pages (''Oct. 2013 - Dec. 2013'')
*'''Niloofar Saadat Eshagh Hosseiny:''' Edited Pages (''Sep. 2019 - Present'')
*'''Syed Muhammad Dildar Hussain:''' Edited Pages (''Dec. 2017 - Nov. 2018'')
*'''Syed Ahsan Hussain:''' Edited Pages (''Jun. 2018 - Mar. 2020'')
*'''Mehrian Jafarizade:''' Edited Pages (''Jun. 2017 - Jun. 2019'')
*'''Mohamadmostafa Jahansouz:''' Edited Pages (''Oct. 2017 - Present'')
*'''Hafiz Muhammad Hannan Javed:''' Edited Pages (''Aug. 2018 - Jun. 2019'')
*'''Asem Juhani:''' Edited Pages (''Jan. 2019 - Mar. 2019'')
*'''Farima Kahe:''' Edited Pages (''Oct. 2017 - Present'')
*'''Arzu Kalayci Karabay:''' Edited Pages (''Oct. 2017 - Present'')
*'''Huda Karman:''' Edited Pages (''Jun. 2019 - Present'')
*'''Akshun Kalia:''' Edited Pages (''Jul. 2017 - Jun. 2018'')
*'''Omer Kamal:''' Edited Pages (''Jun. 2018 - Apr. 2019'')
*'''Manpreet Kaur:''' Edited Pages (''Oct. 2017 - Jul 2018'')
*'''Syed Hassan Abbas Kazmi:''' Edited Pages (''May 2017 - Present'')
*'''Danna Khabbaz:''' Edited WikiDoc Stub Pages and Improved Content (''Mar. 2009 - May 2009'')
*'''Farnaz Khalighinejad:''' Edited Numerous Pages (''Jan. 2018 - Apr. 2018'')
*'''Abdurahman Khalil:''' Edited Numerous Pages (''Nov. 2013 - Apr. 2014'')
*'''Farman Khan:''' Edited Numerous Pages (''Apr. 2013 - Oct. 2013'')
*'''Marjan Khan:''' Edited Numerous Pages (''Oct. 2018 - Present'')
*'''Yamuna Kondapally:''' Edited Cardiology and Infectious Disease Pages (''Aug. 2016 - Mar. 2017'')
*'''Aravind Reddy Kothagadi:''' Edited Pages (''May 2017 - Mar. 2018'')
*'''Saeedeh Kowsarnia:''' Edited Pages (''Apr. 2018 - Aug. 2018'')
*'''Aravind Reddy Kuchkuntla:''' Edited Numerous Infectious Disease and Cardiology Pages (''Oct. 2016 - July 2017'')
*'''Amresh Kumar:''' Edited Pages(''Oct. 2018 - Mar. 2018'')
*'''Shankar Kumar:''' Edited Numerous Pages; Created Site Microchapter System (''Jun. 2012 - May 2014'')
*'''Sunny Kumar:''' Edited Pages(''Sep. 2017 - Jun. 2018'')
*'''Emily Larkin:''' Edited Pages (''Feb. 2013 - Jun. 2014'')
*'''Alison Leibowitz:''' Edited Numerous Pages Correcting Grammar on WikiDoc Board Review (''Jun. 2014 - Aug. 2014'')
*'''Zachary Leibowitz:''' Edited Numerous Pages (''Jun. 2019- Aug. 2019'')
*'''Alejandro Lemor:''' Edited Numerous Pages (''Feb. 2014 - Jan. 2015'')
*'''Michelle Lew:''' Edited Pages (''2006 - Sep. 2009'')
*'''Chetan Lokhande:''' Edited Numerous Pages (''Nov. 2013 - Jul. 2014'')
*'''Carlos Lopez:''' Edited Numerous Oncology and Causes Pages (''Jul. 2015 - Nov. 2015'')
*'''Erin Lord:''' Edited Numerous Pages (''Jul. 2007 - Aug. 2010'')
*'''Jose Eduardo Loyola, Jr.:''' Edited Numerous Pages (''July 2015'')
*'''Hilda Mahmmoudi:''' Edited Numerous Pages (''Jan. 2013 - Jun. 2014'')
*'''Hadeel Maksoud:''' Edited Pages (''Nov. 2017 - May 2018'')
*'''Heather Mangan:''' Crowd Diagnosis Project (''Jan. 2006 - Jul. 2006'')
*'''Amr Marawan:''' Edited Numerous Pages including Resident Survival Guide (''Feb. 2014 - May 2014'')
*'''Susan Marble Gibson:''' Served as an Administrator for the Site (''2005 - Present'')
*'''Jolanta Marszalek:''' Edited Numerous Pages (''Jul. 2014 - Sep. 2014'')
*'''Ashley Medeiros:''' Reorganized Images and Added Image Captions (''Aug. 2015 - Mar. 2016'')
*'''Shadan Mehraban:''' (''Dec. 2018 - Mar. 2019'')
*'''Sahar Memar Montazerin:''' (''Jan. 2019 - Present'')
*'''Nate Michalak:''' Edited Pages (''Nov. 2014 - Jun. 2018'')
*'''Mahshid Mir:''' Edited Pages (''May 2017 - Present'')
*'''Sabawoon Mirwais:''' Edited Pages (''Oct. 2018 - Present'')
*'''Atif Mohammad:''' Edited Pages
*'''Sara Mohsin:''' Edited Pages (''Jan. 2019 - Present'')
*'''Mohamed Moubarak:''' Edited Numerous Pages including Resident Survival Guide (''Sep. 2013 - Mar. 2014'')
*'''Nawal Muazam:''' Edited Numerous Pages (''Nov. 2015 - Jan. 2016'')
*'''Badria Munir:''' Edited Pages (''Sep. 2018 - Feb. 2019'')
*'''Tarek Nafee:''' (''Jul. 2016 - Jul. 2019'')
*'''Homa Najafi:''' (''Dec. 2018 - Present'')
*'''Maneesha Nandimandalam:''' (''Jan. 2019 - Present'')
*'''Aarti Narayan:''' Edited Numerous Pages; Created Site Microchapter System (''Apr. 2012 - Dec. 2014'')
*'''Nima Nasiri:''' (''Nov. 2018 - Oct. 2019'')
*'''Melih Nebigill:''' Edited Pages (''Jun. 2014'')
*'''Daniel Nethala:''' Deputy Co-Director FDA Label Drug Project (''Jun. 2012 - Dec. 2012'')
*'''Dima Nimri:''' Edited Numerous Cardiology and Infectious Disease Pages (''Sep. 2016 - Mar. 2017'')
*'''Martin Nino:''' FDA Label Drug Project (''Jan. 2017 - Mar. 2017'')
*'''Ifeoma Odukwe:''' (''Nov. 2018 - Present'')
*'''Katherine Ogando:''' Edited Content in Spanish (''Aug. 2007 - Oct. 2010'')
*'''Olufunmilola Olubukola:''' (''Sep. 2016 - Present'')
*'''Seyedmahdi "Mehdi" Pahlavani:''' (''Sep. 2016 - Aug. 2018'')
*'''Alexandra Palmer:''' Served as Managing Editor (''Nov. 2007 - Sep. 2010'')
*'''Charmaine Patel:''' Edited Numerous Pages (''May 2012 - May 2013'')
*'''Hardik Patel:''' Added Numerous Pages Pertaining to Angiographic Findings and Complications (''Oct. 2012 - Mar. 2014'')
*'''Sapan Patel:''' Added Numerous Pages Pertaining to Angiographic Findings and Complications (''Apr. 2013 - Sep. 2013'')
*'''Gloria Picoy:''' Edited Pages (''Dec. 2014 - Feb. 2015'')
*'''Anmol Pitliya:''' Edited Pages (''Jul. 2017 - Jun. 2019'')
*'''Alberto Plate:''' Edited Numerous Pages (''Dec. 2014 - Mar. 2015'')
*'''Vignesh Ponnusamy:''' Edited Numerous Pages (''Jul. 2014 - Mar. 2015'')
*'''Suveenkrishna Pothuru:''' Edited Numerous Oncology Pages (''Aug. 2015 - Mar. 2016'')
*'''Ali Poyan Mehr:''' (''May 2016 - Present'')
*'''Venkata Sivakrish Pulivarthi:''' Edited Infectious Disease and Cardiology Pages (''Oct. 2016 - Mar. 2017'')
*'''Iqra Qamar:''' Edited Pages (''Aug. 2017 - Nov. 2018'')
*'''Hamid Qazi:''' Edited Pages (''Dec. 2017 - Jun. 2018'')
*'''Vendhan Ramanujam:''' Edited Numerous Pages (''Jul. 2013 - Jul. 2014'')
*'''Rodrigo Rodrigues:''' Edited Numerous Pages (''Apr. 2013 - Jun. 2013'')
*'''Guillermo Rodriguez Nava:''' Edited Numerous Pages (''May 2014 - Sep. 2014'')
*'''Jesus Rosario Hernandez:''' Edited Dermatology Pages (''Feb. 2014 - Dec. 2014'')
*'''Luke Rusowicz-Orazem''' Crowd Diagnosis Project and Edited Numerous Pages (''Nov. 2014 - Mar. 2017'')
*'''Mahmoud Sakr:''' Edited Numerous Pages (''Feb. 2013 - Sep. 2013'')
*'''Qasim Salau:''' Edited Pages (''Aug. 2016 - Fn 2017'')
*'''Maheep Sangha:''' Edited Pages
*'''Simrat Sarai:''' Edited Numerous Oncology Pages (''Aug. 2015 - Apr. 2016'')
*'''Mohamed Sbeih:''' Edited Numerous Pages
*'''Soroush Seifirad:''' Edited Numerous Pages (''Jan. 2019 - Present'')
*'''Jogeet Singh Sekhon:''' Edited Numerous Pages (''Jun. 2018 - Jun. 2019'')
*'''Zahir Ali Shaikh:''' Edited Numerous Pages (''Sep. 2018 - Mar. 2019'')
*'''Sadaf Sharfaei:''' Edited Numerous Pages (''Oct. 2017 - Mar. 2019'')
*'''Mirdula Sharma:''' Edited Numerous Pages (''Dec. 2015 - Jan 2016'')
*'''Husnain Shaukat:''' Edited Pages (''Jun. 2017 - Jul. 2018'')
*'''Fatima Shaukat:''' Edited Pages (''Jan. 2018 - May 2018'')
*'''Faizan Sheraz:''' Edited Numerous Oncology Pages (''Aug. 2015 - Jan. 2016'')
*'''Marketkar Shivali Poonit:''' Edited Pages
*'''Tamar Sifri:''' Organized Gallery Images (''Jun. 2015 - Jul. 2015'')
*'''Madhu Sidgel:''' Edited Pages (''Oct. 2017 - Mar. 2018'')
*'''Twinkle Singh:''' Edited Numerous Pages including Resident Survival Guide (''Sep. 2013 - Mar. 2014'')
*'''Amandeep Singh:''' Edited Pages (''Aug. 2017 - Present'')
*'''Shalinder Singh:''' Edited Pages (''Sep. 2018 - Jun. 2019'')
*'''Preeti Singh:''' (''Nov. 2018 - Mar. 2019'')
*'''Fahimeh Alsadat Shojaei:''' (''Dec. 2018 - Present'')
*'''Usama Talib:''' (''Oct. 2016 - June 2018'')
*'''Trusha Tank:''' (''Nov. 2018 - Mar. 2019'')
*'''Andrea Tamayo-Soto:''' Edited Pages (''Jan. 2014 - Feb. 2014'')
*'''Feham Tariq:''' (''Nov. 2017 - Jun. 2018'')
*'''Soujanya Thummathati:''' Edited Pages (''Oct. 2015 - Mar. 2016'')
*'''Anusha Vege:''' Edited Pages (''Mar. 2015'')
*'''Swathi Venkatesan:''' Edited Pages (''Jan. 2019 - Aug. 2019'')
*'''Sargun Singh Walia:''' Edited Pages (''Nov. 2017 - Mar. 2019'')
*'''Weici Wang:''' Edited Numerous Pages
*'''Peter Wei:''' Edited Numerous Pages (''Jun. 2009 - Jul. 2009'')
*'''Haleigh Williams:''' (''Jun. 2016 - Feb. 2018'')
*'''Krzysztof Wierzbicki:''' (''Sep. 2016 - Present'')
*'''Divya Yadav:''' Edited Pages (''Apr. 2013'')
*'''Chandrakala Yannam:''' Edited Pages (''Jan. 2018 - Dec. 2019'')
*'''Sree Teja Yelamanchili:''' Edited Pages (''Feb. 2015 - Mar. 2015'')
*'''Ahmed Younes:''' (''Mar. 2017 - June 2019'')
*'''Maaz Yusufi:''' (''Jan 2019'')
*'''Marcelo Zacarkim:''' Edited Pages (''Feb. 2013 - Feb. 2014'')
*'''Karina Zavaleta Soto:''' Edited Pages (''Jan. 2018 - Feb. 2018)''

Myelin oligodendrocyte glycoprotein antibody-associated disease

2024-07-21T06:38:07Z

Rithish Nimmagadda: changes to font

__NOTOC__

{{CMG}}; '''Associate Editor(s)-in-Chief:''' {{VSRN}}

'''''Synonyms and Keywords:''''' [[encephalomyelitis]]; [[Autoimmune]] [[demyelinating disease]] of [[central nervous system]]

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease overview|'''Overview''']]==

An inflammatory condition of the central nervous system, myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is characterized by immune-mediated demyelination assaults that mostly affect the brain, spinal cord, and optic nerves. Children are particularly vulnerable to this condition.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease historical perspective|'''Historical Perspective''']]==

A protein on the surface of oligodendrocytes called myelin oligodendrocyte glycoprotein (MOG) was previously thought to be a possible target for antibodies in multiple sclerosis (MS), although preliminary research was equivocal. A significant development was the association of MOG-immunoglobulin G (IgG) with a distinct demyelinating illness in 2007. In a research utilizing MOG self-antigen tetramers found by radioimmunoassay, MOG antibodies were infrequently found in adult MS patients but were present in a subgroup of individuals with acute disseminated encephalomyelitis (ADEM).

However,With the development of newer generation cell-based tests, the MOGAD phenotype became more defined, and patients were now identified as having bouts of optic neuritis, ADEM, transverse myelitis, or other signs of the central nervous system (CNS), either alone or in combination. Distinguishing MOGAD from MS and aquaporin-4-IgG seropositive neuromyelitis optica spectrum disease (AQP4-IgG NMOSD) involved both shared and significant distinctions in terms of clinical, radiographic, and cerebrospinal fluid characteristics. As a result, MOGAD is now recognized as a unique CNS demyelinating illness.<ref name="PMID: 17237795.">{{cite journal |vauthors O'Connor KC |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein. Nat Med. 2007 Feb;13(2):211-7. doi: 10.1038/nm1488. Epub 2007 Jan 12. |PMID=17278121..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease pathophysiology|'''Pathophysiology''']]==

The discovery of a disease-specific serum immunoglobulin G (IgG) antibody that selectively binds myelin oligodendrocyte glycoprotein (MOG) has led to increased understanding of a diverse spectrum of disorders, which are now termed MOGAD. Overall, the pathologic features support an antibody-mediated central nervous system (CNS) demyelinating disease distinct from multiple sclerosis (MS).

The majority of human pathology investigations on MOGAD have concentrated on the brain lesions seen during biopsy or autopsy, which has shed some light on the disease's pathophysiology. Perivenous and confluent demyelination have been shown to coexist in these investigations. Intracortical demyelinating lesions are more common than cortical demyelinating lesions. In one case series, selective MOG loss was found, but not in another. It is different from MS in that there is usually a CD4-positive T cell inflammatory response with granulocytic inflammation rather than a CD8-positive predominant infiltration. Additionally noticed is complement deposition, and reports have indicated an overlap with pattern II MS pathology.<ref name="PMID:32048003.">{{cite journal |vauthors Höftberger R |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein.The pathology of central nervous system inflammatory demyelinating disease accompanying myelin oligodendrocyte glycoprotein autoantibody. Acta Neuropathol. 2020 May;139(5):875-892 |PMID=32048003|url=}}</ref> <ref name="PMID:32412053..">{{cite journal |vauthors Takai Y |title= Japan MOG-antibody Disease Consortium. Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study. Brain. 2020 May 1;143(5):1431-1446. |PMID=32412053.|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease epidemiology and demographics|'''Epidemiology and Demographics''']]==
[[Category:Neurology]]

Because myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) was just identified in 2007 and broad testing was not accessible for several years to a decade later, the epidemiology data for MOGAD are limited. As a result, the prevalence of MOGAD may have been overstated in early epidemiological data. Although research conducted in Europe imply that the incidence of MOGAD is between 1.6 and 3.4 per 1,000,000 person-years, the prevalence and incidence remain mostly unknown.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease |CLINICAL FEATURES ]]==

assaults that are extremely distinctive — Although none of the clinical characteristics of MOGAD are unique to the condition, several are. Among these are severe episodes of:

'''optic Neuritis:'''

● Optic neuritis, either unilateral or bilateral, causing profound vision loss
●Acute disseminated encephalomyelitis (ADEM), presenting with localized neurologic abnormalities, transverse myelitis characteristics, and impaired mental status
●Transverse myelitis, which frequently results in sensory loss, limb weakness, and problems with the bowel, bladder, or sex
MOGAD may progress in a relapsing or monophasic manner.

Attacks often take days to develop, peak, and then recover in different ways over the course of weeks or months. Attacks might be preceded by a vaccine or an infectious disease.<ref name="PMID: 29136091">{{cite journal |vauthors Jurynczyk M |title= Clinical presentation and prognosis in MOG-antibody disease: a UK study. Brain. 2017 Dec 1;140(12):3128-3138. doi: 10.1093/brain/awx276. Erratum in: Brain. 2018 Apr 1;141(4):e31. |PMID= 29136091.|url=}}</ref> <ref name="PMID:30055153">{{cite journal |vauthors Chen JJ |title= Myelin Oligodendrocyte Glycoprotein Antibody-Positive Optic Neuritis: Clinical Characteristics, Radiologic Clues, and Outcome. Am J Ophthalmol. 2018 Nov;195:8-15. doi: 10.1016/j.ajo.2018.07.020. Epub 2018 Jul 26. |PMID= 30055153|url=}}</ref>

There might be further involvement of the central nervous system (CNS), such as the clinical syndrome of neuromyelitis optica spectrum disease (NMOSD) in which there is no detectable level of aquaporin-4-immunoglobulin G (AQP4-IgG). The latter is typified by optic neuritis and transverse myelitis in any combination, occasionally with involvement of other CNS areas. Unilateral cerebral cortical encephalitis, which can cause seizures, headaches, and other focal neurologic symptoms, is another symptom that patients with MOGAD may exhibit. Although the brainstem can also be affected, this usually happens in conjunction with more extensive ADEM rather than on its own.

Any inflammatory illness or an idiopathic cause can result in optic neuritis, or inflammation of the optic nerve. While there are certain clinical signs that may indicate MOGAD, the hallmarks of optic neuritis in MOGAD are similar to those of multiple sclerosis and AQP4-IgG NMOSD. All forms of optic neuritis commonly generate pain with eye movement, and in most MOGAD instances, this occurs before to vision loss. Once more, in pediatric patients, this may be characterized as a headache, and in young children, making a precise differentiation may be difficult. With a median visual acuity at nadir of counting fingers, vision loss is usually central and severe (more severe in MOGAD than in multiple sclerosis [MS], but equivalent in severity to AQP4-IgG NMOSD).

'''Transverse myelitis''':

This condition is characterized by inflammation across the spinal cord parenchyma, which results in neurologic impairment. It can progress over several hours or days, peaking within 21 days. This is a quick review of transverse myelitis, which is covered in more depth elsewhere.<ref name="PMID:12236201">{{cite journal |vauthors |title= Transverse Myelitis Consortium Working Group. Proposed diagnostic criteria and nosology of acute transverse myelitis. Neurology. 2002 Aug 27;59(4):499-505.|PMID= 12236201|url=}}</ref>

When a person has MOGAD, their spinal cord may be affected alone or in combination with other parts of their brain.
A sensory level throughout the trunk and a subacute start of paraparesis or quadriparesis with loss of feeling below the lesion are among the symptoms. In addition to erectile dysfunction in men, neurogenic bowel and bladder disorders are widespread, potentially due to frequent involvement of the conus<ref name="PMID:30575890">{{cite journal |vauthors:Dubey D |title= Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody. JAMA Neurol. 2019 Mar 1;76(3):301-309. doi: 10.1001/jamaneurol.2018.4053. |PMID= 30575890|url=}}</ref>

'''AQP4-IgG-seronegative NMOSD:'''

Given that MOGAD has been linked to both optic neuritis and LETM, it is not unexpected that between one-third and half of individuals with the clinical syndrome of NMOSD do not have aquaporin-4-IgG identified. Nevertheless, only 20 to 30 percent of MOGAD patients will meet the requirements for AQP4-IgG seronegative NMOSD, indicating the necessity for MOGAD to have its own unique set of diagnostic standards.<ref name="PMID:31596489">{{cite journal |vauthors: Mariano R |title= Comparison of Clinical Outcomes of Transverse Myelitis Among Adults With Myelin Oligodendrocyte Glycoprotein Antibody vs Aquaporin-4 Antibody Disease. JAMA Netw Open. 2019 Oct 2;2(10):e1912732. doi: 10.1001/jamanetworkopen.2019.12732. doi: 10.1001/jamaneurol.2018.4053. |PMID= 31596489|url=}}</ref>

'''ADEM:'''

A initial polyfocal CNS episode from suspected demyelination, accompanied by encephalopathy not explained by fever, systemic disease, or postictal characteristics, characterizes this clinical condition. Large, poorly defined white matter lesions, either with or without gray matter lesions, are required MRI abnormalities.
While ADEM is often monophasic, a small percentage of individuals have relapsing illness defined as multiphasic ADEM, which is characterized by numerous independent ADEM attacks; traditionally, many of these people may have had MOGAD. Thirty to fifty percent of ADEM patients have myelin oligodendrocyte glycoprotein (MOG)-IgG, and its presence may indicate a greater risk of recurrence <ref name="PMID:23572237.">{{cite journal |vauthors: Krupp LB |title= International Pediatric Multiple Sclerosis Study Group. International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions. Mult Scler. 2013 Sep;19(10):1261-7. doi: 10.1177/1352458513484547. Epub 2013 Apr 9. |PMID= 23572237.|url=}}</ref>.

'''other cerebral monofocal or polyfocal defects:'''

Neurologic abnormalities associated with MOGAD can manifest as either monofocal or polyfocal deficits, and they can progress over many hours to days. The middle cerebellar peduncle, periventricular (fourth ventricle area), supratentorial white matter, juxtacortical, cortical, and/or deep gray nuclei are the usual locations of demyelinating brain lesions that cause them. On T2-weighted MRI sequences, these lesions are hyperintense; they may or may not enhance with gadolinium. Keep in mind that periventricular lesions are less frequent in multiple sclerosis patients <ref name="PMID:36706773.">{{cite journal |vauthors: Banwell B |title= Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24.|PMID= 36706773.|url=}}</ref>.

'''Brainstem and cerebellar features:'''

Compared to multiple sclerosis, isolated brainstem attacks associated with MOGAD are less prevalent. These areas are often affected as part of a multifocal CNS demyelinating onslaught that also affects other brain, optic nerve, and/or spinal cord regions. Clinical accompaniments most frequently seen include ataxia and diplopia. It is uncommon to experience a unique region postrema syndrome typical of AQP4-IgG NMOSD with isolated persistent nausea, vomiting, and hiccups, but nausea and vomiting may occur as a component of ADEM or its accompanying viral prodrome.

'''Cerebral cortical encephalitis :'''

The condition known as cerebral cortical encephalitis is a new clinical disease that is recently identified as a MOGAD characteristic. Seizures, aphasia, stroke-like events, headaches, and fever are examples of clinical symptoms <ref name="PMID:28105459.">{{cite journal |vauthors: Ogawa R|title= MOG antibody-positive, benign, unilateral, cerebral cortical encephalitis with epilepsy. Neurol Neuroimmunol Neuroinflamm. 2017 Jan 16;4(2):e322. doi: 10.1212/NXI.0000000000000322.|PMID= 28105459.|url=}}</ref> . Up to 80% of cases are unilateral, with symptoms limited to one hemisphere. Cortical edema, T2 hyperintensity, and leptomeningeal enhancement are also observed radiologically. Reports of T2 hypointensity in the surrounding white matter have also been recorded.

'''Children :'''

About half of all MOGAD event cases involve children, who appear to be susceptible to the disease. Positive MOG antibodies have been identified as a frequent finding in first presentations, and around one-third of pediatric acute acquired demyelinating syndromes have MOG-IgG.In the majority of children presenting with MOGAD, the clinical phenotype is that of ADEM, optic neuritis, or a combination of both, followed by transverse myelitis <ref name="PMID:32057303.">{{cite journal |vauthors: Armangue T|title= Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study. Lancet Neurol. 2020 Mar;19(3):234-246. doi: 10.1016/S1474-4422(19)30488-0. Epub 2020 Feb 10. Erratum in: Lancet Neurol. 2020 Apr;19(4):e4. doi: 10.1016/S1474-4422(20)30074-0. |PMID= 32057303..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Investigations]]==

The following imaging and laboratory investigations are part of the initial presentation evaluation for suspected MOGAD:

●MRI, both with and without contrast of any symptomatic neuraxis area, as well as all of the following in the event that the diagnosis is unclear or encephalopathy interferes with the neurologic exam:
•Images with fat saturation and orbits
• Central nervous system
●MOG-IgG serum, examined by a cellular assay (see to 'MOG autoantibody' below)
●CSF analysis for routine studies (e.g., cell count, differential) and oligoclonal bands; polymerase chain reaction (PCR) testing for viral infections in selected patients; testing CSF for NMDA receptor antibodies in selected patients with features suggestive of anti-N-methyl-D-aspartate (NMDA) receptor encephalitis (orofacial dyskinesias, psychosis, seizures).

'''MRI orbits''':

-An MRI of the orbits, both with and without gadolinium contrast, as well as pictures showing fat saturation, commonly known as fat suppression, might provide valuable information for MOGAD. Adult cases of optic neuritis are more prevalent, and orbital MRI is a more sensitive method of diagnosing optic neuritis than brain MRI <ref name="PMID: 26163068.">{{cite journal |vauthors: Ramanathan S|title= Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis. Mult Scler. 2016 Apr;22(4):470-82. doi: 10.1177/1352458515593406. Epub 2015 Jul 10 |PMID= 26163068.|url=}}</ref> .

'''MRI Brain''':

-Many big, fuzzy, poorly defined T2 hyperintensities of the white matter are characteristic of ADEM or ADEM-like presentations of MOGAD. deep gray matter involvement involving either one or both thalamic or basal ganglia T2 hyperintensities are widely known to help differentiate MOGAD from MS, despite the fact that AQP4-IgG NMOSD and these imaging findings overlap <ref name="PMID:30014148Association of MOG-IgG Serostatus With Relapse After Acute Disseminated Encephalomyelitis and Proposed Diagnostic Criteria for MOG-IgG-Associated Disorders. JAMA Neurol. 2018 Nov 1;75(11):1355-1363. doi: 10.1001/jamaneurol.2018.1814. |PMID= 30014148|url=}}</ref"></ref> .

'''MRI of the spinal cord:'''

-Most patients (60 to 100 percent) with MOGAD had longitudinally significant spinal cord lesions on T2-weighted sagittal spine MRI spanning ≥3 vertebral segments. These can appear alone or in conjunction with other short or longitudinally extensive lesions; although solitary short lesions are uncommon, it is nevertheless important to rule out multiple sclerosis (MS), especially if they are peripherally placed or show a ring of enhancement.

'''MOG autoantibody''':

A cell-based assay is used to check for serum MOG-IgG antibody. Patients with classic MOGAD clinical, MRI, and laboratory characteristics as well as those with a CNS demyelinating disease that is not consistent with multiple sclerosis should be tested. Given the possibility of false positive results, clinical judgment is needed both in the patient selection process for MOG-IgG testing as well as in the interpretation of positive data <ref name="PMID:31645473.| author: Mariotto S| title: Relevance of antibodies to myelin oligodendrocyte glycoprotein in CSF of seronegative cases. Neurology. 2019 Nov 12;93(20):e1867-e1872. doi: 10.1212/WNL.0000000000008479. Epub 2019 Oct 23 |PMID= 31645473.|url=}}</ref> <ref name="PMID:31645473..| author:Akaishi T| title: Difference in the Source of Anti-AQP4-IgG and Anti-MOG-IgG Antibodies in CSF in Patients With Neuromyelitis Optica Spectrum Disorder. Neurology. 2021 Jul 6;97(1):e1-e12. doi: 10.1212/WNL.0000000000012175. Epub 2021 May 12. PMID: 33980704; PMCID: PMC8312856.000000008479. Epub 2019 Oct 23. |PMID= 31645473.|url=}}</ref> .

It is not advised to do uniform MOG-IgG testing on individuals who have clinical symptoms and MRI findings indicative of multiple sclerosis.

Given that MOG-IgG is the defining factor for MOGAD, it is imperative that doctors possess a basic understanding of the MOG-IgG test, particularly with regard to the possibility of false positive results at low titer. Here is a summary of some MOG-IgG testing guidelines and common mistakes.

'''Optical coherence tomography (OCT):'''

This is a type of imaging that uses near-infrared light to produce quantitative data on the sizes of the different layers of the retina. Since that optic neuritis is the most prevalent symptom of MOGAD in adult patients, OCT is a valuable diagnostic tool. OCT can measure the degree of previous optic nerve injury, identify previous bouts of optic neuritis, and evaluate the acute characteristics of the condition <ref name="PMID:33832689.| author: Costello F| title: The role of optical coherence tomography in the diagnosis of afferent visual pathway problems: A neuroophthalmic perspective. Handb Clin Neurol. 2021;178:97-113. doi: 10.1016/B978-0-12-821377-3.00007-6. |PMID= 33832689.url=}}</ref> .

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Diagnostic Criteria]]==

The diagnostic criteria that have been proposed for MOGAD necessitate the following <ref name="PMID:36706773| author: Banwell B| title: Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24. |PMID= 36706773| url=}}</ref> :

●A central clinical demyelinating event being present:
•Optic neuritis, as previously mentioned
•Transverse myelitis (see to the section above on this condition)
The disease known as acute disseminated encephalomyelitis (ADEM) (see 'ADEM' above)
•deficiencies that are cerebral, either mono- or polyfocal (see 'Cerebral monofocal or polyfocal deficiencies' above)
•Deficits related to the brainstem or cerebellum (see 'Brainstem and cerebellar characteristics' above)
Brain cortical encephalitis, frequently accompanied by seizures (see to the sections on "Cerebral cortical encephalitis" and "Seizures" above).

●A myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) test that is considered positive when it exhibits the above-described, definite positivity.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Treatment]]==

'''MEDICAL CARE'''

Treatment for acute attacks and techniques for preventing attacks can be used to stratify MOGAD treatment <ref name="PMID:31355308| author: Stiebel-Kalish H| title: Does time equal vision in the acute treatment of a cohort of AQP4 and MOG optic neuritis? Neurol Neuroimmunol Neuroinflamm. 2019 May 21;6(4):e572. doi: 10.1212/NXI.0000000000000572. |PMID= 31355308| url=}}</ref> .

Treatment for acute attacks: Since MOGAD acute episodes are often severe, nearly all of them are handled. It is a good idea to begin acute therapy as soon as possible since some research suggests that administering glucocorticoids early in acute assaults may avoid long-term harm.

●'''High-dose glucocorticoids:''' For five days in a row, we advise starting therapy with high-dose intravenous (IV) methylprednisolone (1000 mg for adults, 20 to 30 mg/kg daily for children). This is supported by research on idiopathic optic neuritis and multiple sclerosis (MS), and it is in line with expert panel guidelines.

==Diagnosis==
[[Myelin oligodendrocyte glycoprotein antibody-associated disease history and symptoms|History and Symptoms]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease physical examination|Physical Examination]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease laboratory findings|Laboratory Findings]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease electrocardiogram|Electrocardiogram]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease x ray|X Ray]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease CT|CT]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease MRI|MRI]] | [[Myelin oligodendrocyte

User:Rithish Nimmagadda

2024-07-21T06:36:49Z

Rithish Nimmagadda: /* Pages Authored */

<nowiki>
__NOTOC__
==Your Name==
''' Rithish Nimmagadda,MBBS

Research scholar
 Contact:945-278-1660 
Email: rithishnvs@gmail.com [mailto:rithishnvs@gmail.com] 

==Current Position==
* research scholar (list chapters here) 

==Education==
Medical Degree from Kamineni Academy of Medical sciences and research centre , Hyderabad , India

==Pages Authored==

<div style="-moz-column-count:8; column-count:2;">

#[[Epcoritamab-bysp]]
#[[Elfabrio]]
#[[Mirikizumab-mrkz]]
#[[Bimekizumab]]
#[[Lotilaner]]
#[[Quizartinib]]
#[[Ritlecitinib]]
#[[Tofersen]]
#[[Retifanlimab-dlwr]]
#[[Velmanase alfa-tycv]]
#[[Elacestrant]]
#[[Pirtobrutinib]]
#[[vonoprazan, amoxicillin, and clarithromycin]]
#[[Iptacopa]]
#[[GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME]]
#[[Rumination disorder]]
#[[Birt-Hogg-Dubé syndrome]]
#[[Ischemic hepatitis]]
#[[Diffuse intrinsic pontine glioma]]
#[[Myelin oligodendrocyte glycoprotein antibody-associated disease]]

==Pages Co-authored/Collaborated==

#[[Eosinophilic esophagitis medical therapy]]
#[[Migraine]]
#[[Cardiac amyloidosis]]
#[[Aspergillosis]]

Myelin oligodendrocyte glycoprotein antibody-associated disease

2024-07-21T06:36:21Z

Rithish Nimmagadda:

__NOTOC__

{{CMG}}; '''Associate Editor(s)-in-Chief:''' {{VSRN}}

'''''Synonyms and Keywords:''''' [[encephalomyelitis]]; [[Autoimmune]] [[demyelinating disease]] of [[central nervous system]]

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease overview|'''Overview''']]==

An inflammatory condition of the central nervous system, myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is characterized by immune-mediated demyelination assaults that mostly affect the brain, spinal cord, and optic nerves. Children are particularly vulnerable to this condition.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease historical perspective|'''Historical Perspective''']]==

A protein on the surface of oligodendrocytes called myelin oligodendrocyte glycoprotein (MOG) was previously thought to be a possible target for antibodies in multiple sclerosis (MS), although preliminary research was equivocal. A significant development was the association of MOG-immunoglobulin G (IgG) with a distinct demyelinating illness in 2007. In a research utilizing MOG self-antigen tetramers found by radioimmunoassay, MOG antibodies were infrequently found in adult MS patients but were present in a subgroup of individuals with acute disseminated encephalomyelitis (ADEM).

However,With the development of newer generation cell-based tests, the MOGAD phenotype became more defined, and patients were now identified as having bouts of optic neuritis, ADEM, transverse myelitis, or other signs of the central nervous system (CNS), either alone or in combination. Distinguishing MOGAD from MS and aquaporin-4-IgG seropositive neuromyelitis optica spectrum disease (AQP4-IgG NMOSD) involved both shared and significant distinctions in terms of clinical, radiographic, and cerebrospinal fluid characteristics. As a result, MOGAD is now recognized as a unique CNS demyelinating illness.<ref name="PMID: 17237795.">{{cite journal |vauthors O'Connor KC |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein. Nat Med. 2007 Feb;13(2):211-7. doi: 10.1038/nm1488. Epub 2007 Jan 12. |PMID=17278121..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease pathophysiology|'''Pathophysiology''']]==

The discovery of a disease-specific serum immunoglobulin G (IgG) antibody that selectively binds myelin oligodendrocyte glycoprotein (MOG) has led to increased understanding of a diverse spectrum of disorders, which are now termed MOGAD. Overall, the pathologic features support an antibody-mediated central nervous system (CNS) demyelinating disease distinct from multiple sclerosis (MS).

The majority of human pathology investigations on MOGAD have concentrated on the brain lesions seen during biopsy or autopsy, which has shed some light on the disease's pathophysiology. Perivenous and confluent demyelination have been shown to coexist in these investigations. Intracortical demyelinating lesions are more common than cortical demyelinating lesions. In one case series, selective MOG loss was found, but not in another. It is different from MS in that there is usually a CD4-positive T cell inflammatory response with granulocytic inflammation rather than a CD8-positive predominant infiltration. Additionally noticed is complement deposition, and reports have indicated an overlap with pattern II MS pathology.<ref name="PMID:32048003.">{{cite journal |vauthors Höftberger R |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein.The pathology of central nervous system inflammatory demyelinating disease accompanying myelin oligodendrocyte glycoprotein autoantibody. Acta Neuropathol. 2020 May;139(5):875-892 |PMID=32048003|url=}}</ref> <ref name="PMID:32412053..">{{cite journal |vauthors Takai Y |title= Japan MOG-antibody Disease Consortium. Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study. Brain. 2020 May 1;143(5):1431-1446. |PMID=32412053.|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease epidemiology and demographics|'''Epidemiology and Demographics''']]==
[[Category:Neurology]]

Because myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) was just identified in 2007 and broad testing was not accessible for several years to a decade later, the epidemiology data for MOGAD are limited. As a result, the prevalence of MOGAD may have been overstated in early epidemiological data. Although research conducted in Europe imply that the incidence of MOGAD is between 1.6 and 3.4 per 1,000,000 person-years, the prevalence and incidence remain mostly unknown.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease |CLINICAL FEATURES ]]==

assaults that are extremely distinctive — Although none of the clinical characteristics of MOGAD are unique to the condition, several are. Among these are severe episodes of:

optic Neuritis:

● Optic neuritis, either unilateral or bilateral, causing profound vision loss
●Acute disseminated encephalomyelitis (ADEM), presenting with localized neurologic abnormalities, transverse myelitis characteristics, and impaired mental status
●Transverse myelitis, which frequently results in sensory loss, limb weakness, and problems with the bowel, bladder, or sex
MOGAD may progress in a relapsing or monophasic manner.

Attacks often take days to develop, peak, and then recover in different ways over the course of weeks or months. Attacks might be preceded by a vaccine or an infectious disease.<ref name="PMID: 29136091">{{cite journal |vauthors Jurynczyk M |title= Clinical presentation and prognosis in MOG-antibody disease: a UK study. Brain. 2017 Dec 1;140(12):3128-3138. doi: 10.1093/brain/awx276. Erratum in: Brain. 2018 Apr 1;141(4):e31. |PMID= 29136091.|url=}}</ref> <ref name="PMID:30055153">{{cite journal |vauthors Chen JJ |title= Myelin Oligodendrocyte Glycoprotein Antibody-Positive Optic Neuritis: Clinical Characteristics, Radiologic Clues, and Outcome. Am J Ophthalmol. 2018 Nov;195:8-15. doi: 10.1016/j.ajo.2018.07.020. Epub 2018 Jul 26. |PMID= 30055153|url=}}</ref>

There might be further involvement of the central nervous system (CNS), such as the clinical syndrome of neuromyelitis optica spectrum disease (NMOSD) in which there is no detectable level of aquaporin-4-immunoglobulin G (AQP4-IgG). The latter is typified by optic neuritis and transverse myelitis in any combination, occasionally with involvement of other CNS areas. Unilateral cerebral cortical encephalitis, which can cause seizures, headaches, and other focal neurologic symptoms, is another symptom that patients with MOGAD may exhibit. Although the brainstem can also be affected, this usually happens in conjunction with more extensive ADEM rather than on its own.

Any inflammatory illness or an idiopathic cause can result in optic neuritis, or inflammation of the optic nerve. While there are certain clinical signs that may indicate MOGAD, the hallmarks of optic neuritis in MOGAD are similar to those of multiple sclerosis and AQP4-IgG NMOSD. All forms of optic neuritis commonly generate pain with eye movement, and in most MOGAD instances, this occurs before to vision loss. Once more, in pediatric patients, this may be characterized as a headache, and in young children, making a precise differentiation may be difficult. With a median visual acuity at nadir of counting fingers, vision loss is usually central and severe (more severe in MOGAD than in multiple sclerosis [MS], but equivalent in severity to AQP4-IgG NMOSD).

Transverse myelitis:

This condition is characterized by inflammation across the spinal cord parenchyma, which results in neurologic impairment. It can progress over several hours or days, peaking within 21 days. This is a quick review of transverse myelitis, which is covered in more depth elsewhere.<ref name="PMID:12236201">{{cite journal |vauthors |title= Transverse Myelitis Consortium Working Group. Proposed diagnostic criteria and nosology of acute transverse myelitis. Neurology. 2002 Aug 27;59(4):499-505.|PMID= 12236201|url=}}</ref>

When a person has MOGAD, their spinal cord may be affected alone or in combination with other parts of their brain.
A sensory level throughout the trunk and a subacute start of paraparesis or quadriparesis with loss of feeling below the lesion are among the symptoms. In addition to erectile dysfunction in men, neurogenic bowel and bladder disorders are widespread, potentially due to frequent involvement of the conus<ref name="PMID:30575890">{{cite journal |vauthors:Dubey D |title= Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody. JAMA Neurol. 2019 Mar 1;76(3):301-309. doi: 10.1001/jamaneurol.2018.4053. |PMID= 30575890|url=}}</ref>

AQP4-IgG-seronegative NMOSD:

Given that MOGAD has been linked to both optic neuritis and LETM, it is not unexpected that between one-third and half of individuals with the clinical syndrome of NMOSD do not have aquaporin-4-IgG identified. Nevertheless, only 20 to 30 percent of MOGAD patients will meet the requirements for AQP4-IgG seronegative NMOSD, indicating the necessity for MOGAD to have its own unique set of diagnostic standards.<ref name="PMID:31596489">{{cite journal |vauthors: Mariano R |title= Comparison of Clinical Outcomes of Transverse Myelitis Among Adults With Myelin Oligodendrocyte Glycoprotein Antibody vs Aquaporin-4 Antibody Disease. JAMA Netw Open. 2019 Oct 2;2(10):e1912732. doi: 10.1001/jamanetworkopen.2019.12732. doi: 10.1001/jamaneurol.2018.4053. |PMID= 31596489|url=}}</ref>

ADEM:

A initial polyfocal CNS episode from suspected demyelination, accompanied by encephalopathy not explained by fever, systemic disease, or postictal characteristics, characterizes this clinical condition. Large, poorly defined white matter lesions, either with or without gray matter lesions, are required MRI abnormalities.
While ADEM is often monophasic, a small percentage of individuals have relapsing illness defined as multiphasic ADEM, which is characterized by numerous independent ADEM attacks; traditionally, many of these people may have had MOGAD. Thirty to fifty percent of ADEM patients have myelin oligodendrocyte glycoprotein (MOG)-IgG, and its presence may indicate a greater risk of recurrence <ref name="PMID:23572237.">{{cite journal |vauthors: Krupp LB |title= International Pediatric Multiple Sclerosis Study Group. International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions. Mult Scler. 2013 Sep;19(10):1261-7. doi: 10.1177/1352458513484547. Epub 2013 Apr 9. |PMID= 23572237.|url=}}</ref>.

other cerebral monofocal or polyfocal defects:

Neurologic abnormalities associated with MOGAD can manifest as either monofocal or polyfocal deficits, and they can progress over many hours to days. The middle cerebellar peduncle, periventricular (fourth ventricle area), supratentorial white matter, juxtacortical, cortical, and/or deep gray nuclei are the usual locations of demyelinating brain lesions that cause them. On T2-weighted MRI sequences, these lesions are hyperintense; they may or may not enhance with gadolinium. Keep in mind that periventricular lesions are less frequent in multiple sclerosis patients <ref name="PMID:36706773.">{{cite journal |vauthors: Banwell B |title= Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24.|PMID= 36706773.|url=}}</ref>.

Brainstem and cerebellar features:

Compared to multiple sclerosis, isolated brainstem attacks associated with MOGAD are less prevalent. These areas are often affected as part of a multifocal CNS demyelinating onslaught that also affects other brain, optic nerve, and/or spinal cord regions. Clinical accompaniments most frequently seen include ataxia and diplopia. It is uncommon to experience a unique region postrema syndrome typical of AQP4-IgG NMOSD with isolated persistent nausea, vomiting, and hiccups, but nausea and vomiting may occur as a component of ADEM or its accompanying viral prodrome.

Cerebral cortical encephalitis :

The condition known as cerebral cortical encephalitis is a new clinical disease that is recently identified as a MOGAD characteristic. Seizures, aphasia, stroke-like events, headaches, and fever are examples of clinical symptoms <ref name="PMID:28105459.">{{cite journal |vauthors: Ogawa R|title= MOG antibody-positive, benign, unilateral, cerebral cortical encephalitis with epilepsy. Neurol Neuroimmunol Neuroinflamm. 2017 Jan 16;4(2):e322. doi: 10.1212/NXI.0000000000000322.|PMID= 28105459.|url=}}</ref> . Up to 80% of cases are unilateral, with symptoms limited to one hemisphere. Cortical edema, T2 hyperintensity, and leptomeningeal enhancement are also observed radiologically. Reports of T2 hypointensity in the surrounding white matter have also been recorded.

Children :

About half of all MOGAD event cases involve children, who appear to be susceptible to the disease. Positive MOG antibodies have been identified as a frequent finding in first presentations, and around one-third of pediatric acute acquired demyelinating syndromes have MOG-IgG.In the majority of children presenting with MOGAD, the clinical phenotype is that of ADEM, optic neuritis, or a combination of both, followed by transverse myelitis <ref name="PMID:32057303.">{{cite journal |vauthors: Armangue T|title= Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study. Lancet Neurol. 2020 Mar;19(3):234-246. doi: 10.1016/S1474-4422(19)30488-0. Epub 2020 Feb 10. Erratum in: Lancet Neurol. 2020 Apr;19(4):e4. doi: 10.1016/S1474-4422(20)30074-0. |PMID= 32057303..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Investigations]]==

The following imaging and laboratory investigations are part of the initial presentation evaluation for suspected MOGAD:

●MRI, both with and without contrast of any symptomatic neuraxis area, as well as all of the following in the event that the diagnosis is unclear or encephalopathy interferes with the neurologic exam:
•Images with fat saturation and orbits
• Central nervous system
●MOG-IgG serum, examined by a cellular assay (see to 'MOG autoantibody' below)
●CSF analysis for routine studies (e.g., cell count, differential) and oligoclonal bands; polymerase chain reaction (PCR) testing for viral infections in selected patients; testing CSF for NMDA receptor antibodies in selected patients with features suggestive of anti-N-methyl-D-aspartate (NMDA) receptor encephalitis (orofacial dyskinesias, psychosis, seizures).

'''MRI orbits''':

-An MRI of the orbits, both with and without gadolinium contrast, as well as pictures showing fat saturation, commonly known as fat suppression, might provide valuable information for MOGAD. Adult cases of optic neuritis are more prevalent, and orbital MRI is a more sensitive method of diagnosing optic neuritis than brain MRI <ref name="PMID: 26163068.">{{cite journal |vauthors: Ramanathan S|title= Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis. Mult Scler. 2016 Apr;22(4):470-82. doi: 10.1177/1352458515593406. Epub 2015 Jul 10 |PMID= 26163068.|url=}}</ref> .

'''MRI Brain''':

-Many big, fuzzy, poorly defined T2 hyperintensities of the white matter are characteristic of ADEM or ADEM-like presentations of MOGAD. deep gray matter involvement involving either one or both thalamic or basal ganglia T2 hyperintensities are widely known to help differentiate MOGAD from MS, despite the fact that AQP4-IgG NMOSD and these imaging findings overlap <ref name="PMID:30014148Association of MOG-IgG Serostatus With Relapse After Acute Disseminated Encephalomyelitis and Proposed Diagnostic Criteria for MOG-IgG-Associated Disorders. JAMA Neurol. 2018 Nov 1;75(11):1355-1363. doi: 10.1001/jamaneurol.2018.1814. |PMID= 30014148|url=}}</ref"></ref> .

'''MRI of the spinal cord:'''

-Most patients (60 to 100 percent) with MOGAD had longitudinally significant spinal cord lesions on T2-weighted sagittal spine MRI spanning ≥3 vertebral segments. These can appear alone or in conjunction with other short or longitudinally extensive lesions; although solitary short lesions are uncommon, it is nevertheless important to rule out multiple sclerosis (MS), especially if they are peripherally placed or show a ring of enhancement.

'''MOG autoantibody''':

A cell-based assay is used to check for serum MOG-IgG antibody. Patients with classic MOGAD clinical, MRI, and laboratory characteristics as well as those with a CNS demyelinating disease that is not consistent with multiple sclerosis should be tested. Given the possibility of false positive results, clinical judgment is needed both in the patient selection process for MOG-IgG testing as well as in the interpretation of positive data <ref name="PMID:31645473.| author: Mariotto S| title: Relevance of antibodies to myelin oligodendrocyte glycoprotein in CSF of seronegative cases. Neurology. 2019 Nov 12;93(20):e1867-e1872. doi: 10.1212/WNL.0000000000008479. Epub 2019 Oct 23 |PMID= 31645473.|url=}}</ref> <ref name="PMID:31645473..| author:Akaishi T| title: Difference in the Source of Anti-AQP4-IgG and Anti-MOG-IgG Antibodies in CSF in Patients With Neuromyelitis Optica Spectrum Disorder. Neurology. 2021 Jul 6;97(1):e1-e12. doi: 10.1212/WNL.0000000000012175. Epub 2021 May 12. PMID: 33980704; PMCID: PMC8312856.000000008479. Epub 2019 Oct 23. |PMID= 31645473.|url=}}</ref> .

It is not advised to do uniform MOG-IgG testing on individuals who have clinical symptoms and MRI findings indicative of multiple sclerosis.

Given that MOG-IgG is the defining factor for MOGAD, it is imperative that doctors possess a basic understanding of the MOG-IgG test, particularly with regard to the possibility of false positive results at low titer. Here is a summary of some MOG-IgG testing guidelines and common mistakes.

'''Optical coherence tomography (OCT):'''

This is a type of imaging that uses near-infrared light to produce quantitative data on the sizes of the different layers of the retina. Since that optic neuritis is the most prevalent symptom of MOGAD in adult patients, OCT is a valuable diagnostic tool. OCT can measure the degree of previous optic nerve injury, identify previous bouts of optic neuritis, and evaluate the acute characteristics of the condition <ref name="PMID:33832689.| author: Costello F| title: The role of optical coherence tomography in the diagnosis of afferent visual pathway problems: A neuroophthalmic perspective. Handb Clin Neurol. 2021;178:97-113. doi: 10.1016/B978-0-12-821377-3.00007-6. |PMID= 33832689.url=}}</ref> .

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Diagnostic Criteria]]==

The diagnostic criteria that have been proposed for MOGAD necessitate the following <ref name="PMID:36706773| author: Banwell B| title: Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24. |PMID= 36706773| url=}}</ref> :

●A central clinical demyelinating event being present:
•Optic neuritis, as previously mentioned
•Transverse myelitis (see to the section above on this condition)
The disease known as acute disseminated encephalomyelitis (ADEM) (see 'ADEM' above)
•deficiencies that are cerebral, either mono- or polyfocal (see 'Cerebral monofocal or polyfocal deficiencies' above)
•Deficits related to the brainstem or cerebellum (see 'Brainstem and cerebellar characteristics' above)
Brain cortical encephalitis, frequently accompanied by seizures (see to the sections on "Cerebral cortical encephalitis" and "Seizures" above).

●A myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) test that is considered positive when it exhibits the above-described, definite positivity.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Treatment]]==

'''MEDICAL CARE'''

Treatment for acute attacks and techniques for preventing attacks can be used to stratify MOGAD treatment <ref name="PMID:31355308| author: Stiebel-Kalish H| title: Does time equal vision in the acute treatment of a cohort of AQP4 and MOG optic neuritis? Neurol Neuroimmunol Neuroinflamm. 2019 May 21;6(4):e572. doi: 10.1212/NXI.0000000000000572. |PMID= 31355308| url=}}</ref> .

Treatment for acute attacks: Since MOGAD acute episodes are often severe, nearly all of them are handled. It is a good idea to begin acute therapy as soon as possible since some research suggests that administering glucocorticoids early in acute assaults may avoid long-term harm.

●'''High-dose glucocorticoids:''' For five days in a row, we advise starting therapy with high-dose intravenous (IV) methylprednisolone (1000 mg for adults, 20 to 30 mg/kg daily for children). This is supported by research on idiopathic optic neuritis and multiple sclerosis (MS), and it is in line with expert panel guidelines.

==Diagnosis==
[[Myelin oligodendrocyte glycoprotein antibody-associated disease history and symptoms|History and Symptoms]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease physical examination|Physical Examination]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease laboratory findings|Laboratory Findings]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease electrocardiogram|Electrocardiogram]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease x ray|X Ray]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease CT|CT]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease MRI|MRI]] | [[Myelin oligodendrocyte

Myelin oligodendrocyte glycoprotein antibody-associated disease

2024-07-21T06:35:54Z

Rithish Nimmagadda:

__NOTOC__
{{Myelin oligodendrocyte glycoprotein antibody-associated disease- [MOGAD]}}
{{CMG}}; '''Associate Editor(s)-in-Chief:''' {{VSRN}}

'''''Synonyms and Keywords:''''' [[encephalomyelitis]]; [[Autoimmune]] [[demyelinating disease]] of [[central nervous system]]

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease overview|'''Overview''']]==

An inflammatory condition of the central nervous system, myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is characterized by immune-mediated demyelination assaults that mostly affect the brain, spinal cord, and optic nerves. Children are particularly vulnerable to this condition.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease historical perspective|'''Historical Perspective''']]==

A protein on the surface of oligodendrocytes called myelin oligodendrocyte glycoprotein (MOG) was previously thought to be a possible target for antibodies in multiple sclerosis (MS), although preliminary research was equivocal. A significant development was the association of MOG-immunoglobulin G (IgG) with a distinct demyelinating illness in 2007. In a research utilizing MOG self-antigen tetramers found by radioimmunoassay, MOG antibodies were infrequently found in adult MS patients but were present in a subgroup of individuals with acute disseminated encephalomyelitis (ADEM).

However,With the development of newer generation cell-based tests, the MOGAD phenotype became more defined, and patients were now identified as having bouts of optic neuritis, ADEM, transverse myelitis, or other signs of the central nervous system (CNS), either alone or in combination. Distinguishing MOGAD from MS and aquaporin-4-IgG seropositive neuromyelitis optica spectrum disease (AQP4-IgG NMOSD) involved both shared and significant distinctions in terms of clinical, radiographic, and cerebrospinal fluid characteristics. As a result, MOGAD is now recognized as a unique CNS demyelinating illness.<ref name="PMID: 17237795.">{{cite journal |vauthors O'Connor KC |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein. Nat Med. 2007 Feb;13(2):211-7. doi: 10.1038/nm1488. Epub 2007 Jan 12. |PMID=17278121..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease pathophysiology|'''Pathophysiology''']]==

The discovery of a disease-specific serum immunoglobulin G (IgG) antibody that selectively binds myelin oligodendrocyte glycoprotein (MOG) has led to increased understanding of a diverse spectrum of disorders, which are now termed MOGAD. Overall, the pathologic features support an antibody-mediated central nervous system (CNS) demyelinating disease distinct from multiple sclerosis (MS).

The majority of human pathology investigations on MOGAD have concentrated on the brain lesions seen during biopsy or autopsy, which has shed some light on the disease's pathophysiology. Perivenous and confluent demyelination have been shown to coexist in these investigations. Intracortical demyelinating lesions are more common than cortical demyelinating lesions. In one case series, selective MOG loss was found, but not in another. It is different from MS in that there is usually a CD4-positive T cell inflammatory response with granulocytic inflammation rather than a CD8-positive predominant infiltration. Additionally noticed is complement deposition, and reports have indicated an overlap with pattern II MS pathology.<ref name="PMID:32048003.">{{cite journal |vauthors Höftberger R |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein.The pathology of central nervous system inflammatory demyelinating disease accompanying myelin oligodendrocyte glycoprotein autoantibody. Acta Neuropathol. 2020 May;139(5):875-892 |PMID=32048003|url=}}</ref> <ref name="PMID:32412053..">{{cite journal |vauthors Takai Y |title= Japan MOG-antibody Disease Consortium. Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study. Brain. 2020 May 1;143(5):1431-1446. |PMID=32412053.|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease epidemiology and demographics|'''Epidemiology and Demographics''']]==
[[Category:Neurology]]

Because myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) was just identified in 2007 and broad testing was not accessible for several years to a decade later, the epidemiology data for MOGAD are limited. As a result, the prevalence of MOGAD may have been overstated in early epidemiological data. Although research conducted in Europe imply that the incidence of MOGAD is between 1.6 and 3.4 per 1,000,000 person-years, the prevalence and incidence remain mostly unknown.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease |CLINICAL FEATURES ]]==

assaults that are extremely distinctive — Although none of the clinical characteristics of MOGAD are unique to the condition, several are. Among these are severe episodes of:

optic Neuritis:

● Optic neuritis, either unilateral or bilateral, causing profound vision loss
●Acute disseminated encephalomyelitis (ADEM), presenting with localized neurologic abnormalities, transverse myelitis characteristics, and impaired mental status
●Transverse myelitis, which frequently results in sensory loss, limb weakness, and problems with the bowel, bladder, or sex
MOGAD may progress in a relapsing or monophasic manner.

Attacks often take days to develop, peak, and then recover in different ways over the course of weeks or months. Attacks might be preceded by a vaccine or an infectious disease.<ref name="PMID: 29136091">{{cite journal |vauthors Jurynczyk M |title= Clinical presentation and prognosis in MOG-antibody disease: a UK study. Brain. 2017 Dec 1;140(12):3128-3138. doi: 10.1093/brain/awx276. Erratum in: Brain. 2018 Apr 1;141(4):e31. |PMID= 29136091.|url=}}</ref> <ref name="PMID:30055153">{{cite journal |vauthors Chen JJ |title= Myelin Oligodendrocyte Glycoprotein Antibody-Positive Optic Neuritis: Clinical Characteristics, Radiologic Clues, and Outcome. Am J Ophthalmol. 2018 Nov;195:8-15. doi: 10.1016/j.ajo.2018.07.020. Epub 2018 Jul 26. |PMID= 30055153|url=}}</ref>

There might be further involvement of the central nervous system (CNS), such as the clinical syndrome of neuromyelitis optica spectrum disease (NMOSD) in which there is no detectable level of aquaporin-4-immunoglobulin G (AQP4-IgG). The latter is typified by optic neuritis and transverse myelitis in any combination, occasionally with involvement of other CNS areas. Unilateral cerebral cortical encephalitis, which can cause seizures, headaches, and other focal neurologic symptoms, is another symptom that patients with MOGAD may exhibit. Although the brainstem can also be affected, this usually happens in conjunction with more extensive ADEM rather than on its own.

Any inflammatory illness or an idiopathic cause can result in optic neuritis, or inflammation of the optic nerve. While there are certain clinical signs that may indicate MOGAD, the hallmarks of optic neuritis in MOGAD are similar to those of multiple sclerosis and AQP4-IgG NMOSD. All forms of optic neuritis commonly generate pain with eye movement, and in most MOGAD instances, this occurs before to vision loss. Once more, in pediatric patients, this may be characterized as a headache, and in young children, making a precise differentiation may be difficult. With a median visual acuity at nadir of counting fingers, vision loss is usually central and severe (more severe in MOGAD than in multiple sclerosis [MS], but equivalent in severity to AQP4-IgG NMOSD).

Transverse myelitis:

This condition is characterized by inflammation across the spinal cord parenchyma, which results in neurologic impairment. It can progress over several hours or days, peaking within 21 days. This is a quick review of transverse myelitis, which is covered in more depth elsewhere.<ref name="PMID:12236201">{{cite journal |vauthors |title= Transverse Myelitis Consortium Working Group. Proposed diagnostic criteria and nosology of acute transverse myelitis. Neurology. 2002 Aug 27;59(4):499-505.|PMID= 12236201|url=}}</ref>

When a person has MOGAD, their spinal cord may be affected alone or in combination with other parts of their brain.
A sensory level throughout the trunk and a subacute start of paraparesis or quadriparesis with loss of feeling below the lesion are among the symptoms. In addition to erectile dysfunction in men, neurogenic bowel and bladder disorders are widespread, potentially due to frequent involvement of the conus<ref name="PMID:30575890">{{cite journal |vauthors:Dubey D |title= Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody. JAMA Neurol. 2019 Mar 1;76(3):301-309. doi: 10.1001/jamaneurol.2018.4053. |PMID= 30575890|url=}}</ref>

AQP4-IgG-seronegative NMOSD:

Given that MOGAD has been linked to both optic neuritis and LETM, it is not unexpected that between one-third and half of individuals with the clinical syndrome of NMOSD do not have aquaporin-4-IgG identified. Nevertheless, only 20 to 30 percent of MOGAD patients will meet the requirements for AQP4-IgG seronegative NMOSD, indicating the necessity for MOGAD to have its own unique set of diagnostic standards.<ref name="PMID:31596489">{{cite journal |vauthors: Mariano R |title= Comparison of Clinical Outcomes of Transverse Myelitis Among Adults With Myelin Oligodendrocyte Glycoprotein Antibody vs Aquaporin-4 Antibody Disease. JAMA Netw Open. 2019 Oct 2;2(10):e1912732. doi: 10.1001/jamanetworkopen.2019.12732. doi: 10.1001/jamaneurol.2018.4053. |PMID= 31596489|url=}}</ref>

ADEM:

A initial polyfocal CNS episode from suspected demyelination, accompanied by encephalopathy not explained by fever, systemic disease, or postictal characteristics, characterizes this clinical condition. Large, poorly defined white matter lesions, either with or without gray matter lesions, are required MRI abnormalities.
While ADEM is often monophasic, a small percentage of individuals have relapsing illness defined as multiphasic ADEM, which is characterized by numerous independent ADEM attacks; traditionally, many of these people may have had MOGAD. Thirty to fifty percent of ADEM patients have myelin oligodendrocyte glycoprotein (MOG)-IgG, and its presence may indicate a greater risk of recurrence <ref name="PMID:23572237.">{{cite journal |vauthors: Krupp LB |title= International Pediatric Multiple Sclerosis Study Group. International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions. Mult Scler. 2013 Sep;19(10):1261-7. doi: 10.1177/1352458513484547. Epub 2013 Apr 9. |PMID= 23572237.|url=}}</ref>.

other cerebral monofocal or polyfocal defects:

Neurologic abnormalities associated with MOGAD can manifest as either monofocal or polyfocal deficits, and they can progress over many hours to days. The middle cerebellar peduncle, periventricular (fourth ventricle area), supratentorial white matter, juxtacortical, cortical, and/or deep gray nuclei are the usual locations of demyelinating brain lesions that cause them. On T2-weighted MRI sequences, these lesions are hyperintense; they may or may not enhance with gadolinium. Keep in mind that periventricular lesions are less frequent in multiple sclerosis patients <ref name="PMID:36706773.">{{cite journal |vauthors: Banwell B |title= Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24.|PMID= 36706773.|url=}}</ref>.

Brainstem and cerebellar features:

Compared to multiple sclerosis, isolated brainstem attacks associated with MOGAD are less prevalent. These areas are often affected as part of a multifocal CNS demyelinating onslaught that also affects other brain, optic nerve, and/or spinal cord regions. Clinical accompaniments most frequently seen include ataxia and diplopia. It is uncommon to experience a unique region postrema syndrome typical of AQP4-IgG NMOSD with isolated persistent nausea, vomiting, and hiccups, but nausea and vomiting may occur as a component of ADEM or its accompanying viral prodrome.

Cerebral cortical encephalitis :

The condition known as cerebral cortical encephalitis is a new clinical disease that is recently identified as a MOGAD characteristic. Seizures, aphasia, stroke-like events, headaches, and fever are examples of clinical symptoms <ref name="PMID:28105459.">{{cite journal |vauthors: Ogawa R|title= MOG antibody-positive, benign, unilateral, cerebral cortical encephalitis with epilepsy. Neurol Neuroimmunol Neuroinflamm. 2017 Jan 16;4(2):e322. doi: 10.1212/NXI.0000000000000322.|PMID= 28105459.|url=}}</ref> . Up to 80% of cases are unilateral, with symptoms limited to one hemisphere. Cortical edema, T2 hyperintensity, and leptomeningeal enhancement are also observed radiologically. Reports of T2 hypointensity in the surrounding white matter have also been recorded.

Children :

About half of all MOGAD event cases involve children, who appear to be susceptible to the disease. Positive MOG antibodies have been identified as a frequent finding in first presentations, and around one-third of pediatric acute acquired demyelinating syndromes have MOG-IgG.In the majority of children presenting with MOGAD, the clinical phenotype is that of ADEM, optic neuritis, or a combination of both, followed by transverse myelitis <ref name="PMID:32057303.">{{cite journal |vauthors: Armangue T|title= Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study. Lancet Neurol. 2020 Mar;19(3):234-246. doi: 10.1016/S1474-4422(19)30488-0. Epub 2020 Feb 10. Erratum in: Lancet Neurol. 2020 Apr;19(4):e4. doi: 10.1016/S1474-4422(20)30074-0. |PMID= 32057303..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Investigations]]==

The following imaging and laboratory investigations are part of the initial presentation evaluation for suspected MOGAD:

●MRI, both with and without contrast of any symptomatic neuraxis area, as well as all of the following in the event that the diagnosis is unclear or encephalopathy interferes with the neurologic exam:
•Images with fat saturation and orbits
• Central nervous system
●MOG-IgG serum, examined by a cellular assay (see to 'MOG autoantibody' below)
●CSF analysis for routine studies (e.g., cell count, differential) and oligoclonal bands; polymerase chain reaction (PCR) testing for viral infections in selected patients; testing CSF for NMDA receptor antibodies in selected patients with features suggestive of anti-N-methyl-D-aspartate (NMDA) receptor encephalitis (orofacial dyskinesias, psychosis, seizures).

'''MRI orbits''':

-An MRI of the orbits, both with and without gadolinium contrast, as well as pictures showing fat saturation, commonly known as fat suppression, might provide valuable information for MOGAD. Adult cases of optic neuritis are more prevalent, and orbital MRI is a more sensitive method of diagnosing optic neuritis than brain MRI <ref name="PMID: 26163068.">{{cite journal |vauthors: Ramanathan S|title= Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis. Mult Scler. 2016 Apr;22(4):470-82. doi: 10.1177/1352458515593406. Epub 2015 Jul 10 |PMID= 26163068.|url=}}</ref> .

'''MRI Brain''':

-Many big, fuzzy, poorly defined T2 hyperintensities of the white matter are characteristic of ADEM or ADEM-like presentations of MOGAD. deep gray matter involvement involving either one or both thalamic or basal ganglia T2 hyperintensities are widely known to help differentiate MOGAD from MS, despite the fact that AQP4-IgG NMOSD and these imaging findings overlap <ref name="PMID:30014148Association of MOG-IgG Serostatus With Relapse After Acute Disseminated Encephalomyelitis and Proposed Diagnostic Criteria for MOG-IgG-Associated Disorders. JAMA Neurol. 2018 Nov 1;75(11):1355-1363. doi: 10.1001/jamaneurol.2018.1814. |PMID= 30014148|url=}}</ref"></ref> .

'''MRI of the spinal cord:'''

-Most patients (60 to 100 percent) with MOGAD had longitudinally significant spinal cord lesions on T2-weighted sagittal spine MRI spanning ≥3 vertebral segments. These can appear alone or in conjunction with other short or longitudinally extensive lesions; although solitary short lesions are uncommon, it is nevertheless important to rule out multiple sclerosis (MS), especially if they are peripherally placed or show a ring of enhancement.

'''MOG autoantibody''':

A cell-based assay is used to check for serum MOG-IgG antibody. Patients with classic MOGAD clinical, MRI, and laboratory characteristics as well as those with a CNS demyelinating disease that is not consistent with multiple sclerosis should be tested. Given the possibility of false positive results, clinical judgment is needed both in the patient selection process for MOG-IgG testing as well as in the interpretation of positive data <ref name="PMID:31645473.| author: Mariotto S| title: Relevance of antibodies to myelin oligodendrocyte glycoprotein in CSF of seronegative cases. Neurology. 2019 Nov 12;93(20):e1867-e1872. doi: 10.1212/WNL.0000000000008479. Epub 2019 Oct 23 |PMID= 31645473.|url=}}</ref> <ref name="PMID:31645473..| author:Akaishi T| title: Difference in the Source of Anti-AQP4-IgG and Anti-MOG-IgG Antibodies in CSF in Patients With Neuromyelitis Optica Spectrum Disorder. Neurology. 2021 Jul 6;97(1):e1-e12. doi: 10.1212/WNL.0000000000012175. Epub 2021 May 12. PMID: 33980704; PMCID: PMC8312856.000000008479. Epub 2019 Oct 23. |PMID= 31645473.|url=}}</ref> .

It is not advised to do uniform MOG-IgG testing on individuals who have clinical symptoms and MRI findings indicative of multiple sclerosis.

Given that MOG-IgG is the defining factor for MOGAD, it is imperative that doctors possess a basic understanding of the MOG-IgG test, particularly with regard to the possibility of false positive results at low titer. Here is a summary of some MOG-IgG testing guidelines and common mistakes.

'''Optical coherence tomography (OCT):'''

This is a type of imaging that uses near-infrared light to produce quantitative data on the sizes of the different layers of the retina. Since that optic neuritis is the most prevalent symptom of MOGAD in adult patients, OCT is a valuable diagnostic tool. OCT can measure the degree of previous optic nerve injury, identify previous bouts of optic neuritis, and evaluate the acute characteristics of the condition <ref name="PMID:33832689.| author: Costello F| title: The role of optical coherence tomography in the diagnosis of afferent visual pathway problems: A neuroophthalmic perspective. Handb Clin Neurol. 2021;178:97-113. doi: 10.1016/B978-0-12-821377-3.00007-6. |PMID= 33832689.url=}}</ref> .

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Diagnostic Criteria]]==

The diagnostic criteria that have been proposed for MOGAD necessitate the following <ref name="PMID:36706773| author: Banwell B| title: Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24. |PMID= 36706773| url=}}</ref> :

●A central clinical demyelinating event being present:
•Optic neuritis, as previously mentioned
•Transverse myelitis (see to the section above on this condition)
The disease known as acute disseminated encephalomyelitis (ADEM) (see 'ADEM' above)
•deficiencies that are cerebral, either mono- or polyfocal (see 'Cerebral monofocal or polyfocal deficiencies' above)
•Deficits related to the brainstem or cerebellum (see 'Brainstem and cerebellar characteristics' above)
Brain cortical encephalitis, frequently accompanied by seizures (see to the sections on "Cerebral cortical encephalitis" and "Seizures" above).

●A myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) test that is considered positive when it exhibits the above-described, definite positivity.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Treatment]]==

'''MEDICAL CARE'''

Treatment for acute attacks and techniques for preventing attacks can be used to stratify MOGAD treatment <ref name="PMID:31355308| author: Stiebel-Kalish H| title: Does time equal vision in the acute treatment of a cohort of AQP4 and MOG optic neuritis? Neurol Neuroimmunol Neuroinflamm. 2019 May 21;6(4):e572. doi: 10.1212/NXI.0000000000000572. |PMID= 31355308| url=}}</ref> .

Treatment for acute attacks: Since MOGAD acute episodes are often severe, nearly all of them are handled. It is a good idea to begin acute therapy as soon as possible since some research suggests that administering glucocorticoids early in acute assaults may avoid long-term harm.

●'''High-dose glucocorticoids:''' For five days in a row, we advise starting therapy with high-dose intravenous (IV) methylprednisolone (1000 mg for adults, 20 to 30 mg/kg daily for children). This is supported by research on idiopathic optic neuritis and multiple sclerosis (MS), and it is in line with expert panel guidelines.

==Diagnosis==
[[Myelin oligodendrocyte glycoprotein antibody-associated disease history and symptoms|History and Symptoms]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease physical examination|Physical Examination]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease laboratory findings|Laboratory Findings]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease electrocardiogram|Electrocardiogram]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease x ray|X Ray]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease CT|CT]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease MRI|MRI]] | [[Myelin oligodendrocyte

Myelin oligodendrocyte glycoprotein antibody-associated disease

2024-07-21T06:34:34Z

Rithish Nimmagadda:

__NOTOC__
{{Myelin oligodendrocyte glycoprotein antibody-associated disease}}
{{CMG}}; '''Associate Editor(s)-in-Chief:''' {{VSRN}}

'''''Synonyms and Keywords:''''' [[encephalomyelitis]]; [[Autoimmune]] [[demyelinating disease]] of [[central nervous system]]

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease overview|'''Overview''']]==

An inflammatory condition of the central nervous system, myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is characterized by immune-mediated demyelination assaults that mostly affect the brain, spinal cord, and optic nerves. Children are particularly vulnerable to this condition.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease historical perspective|'''Historical Perspective''']]==

A protein on the surface of oligodendrocytes called myelin oligodendrocyte glycoprotein (MOG) was previously thought to be a possible target for antibodies in multiple sclerosis (MS), although preliminary research was equivocal. A significant development was the association of MOG-immunoglobulin G (IgG) with a distinct demyelinating illness in 2007. In a research utilizing MOG self-antigen tetramers found by radioimmunoassay, MOG antibodies were infrequently found in adult MS patients but were present in a subgroup of individuals with acute disseminated encephalomyelitis (ADEM).

However,With the development of newer generation cell-based tests, the MOGAD phenotype became more defined, and patients were now identified as having bouts of optic neuritis, ADEM, transverse myelitis, or other signs of the central nervous system (CNS), either alone or in combination. Distinguishing MOGAD from MS and aquaporin-4-IgG seropositive neuromyelitis optica spectrum disease (AQP4-IgG NMOSD) involved both shared and significant distinctions in terms of clinical, radiographic, and cerebrospinal fluid characteristics. As a result, MOGAD is now recognized as a unique CNS demyelinating illness.<ref name="PMID: 17237795.">{{cite journal |vauthors O'Connor KC |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein. Nat Med. 2007 Feb;13(2):211-7. doi: 10.1038/nm1488. Epub 2007 Jan 12. |PMID=17278121..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease pathophysiology|'''Pathophysiology''']]==

The discovery of a disease-specific serum immunoglobulin G (IgG) antibody that selectively binds myelin oligodendrocyte glycoprotein (MOG) has led to increased understanding of a diverse spectrum of disorders, which are now termed MOGAD. Overall, the pathologic features support an antibody-mediated central nervous system (CNS) demyelinating disease distinct from multiple sclerosis (MS).

The majority of human pathology investigations on MOGAD have concentrated on the brain lesions seen during biopsy or autopsy, which has shed some light on the disease's pathophysiology. Perivenous and confluent demyelination have been shown to coexist in these investigations. Intracortical demyelinating lesions are more common than cortical demyelinating lesions. In one case series, selective MOG loss was found, but not in another. It is different from MS in that there is usually a CD4-positive T cell inflammatory response with granulocytic inflammation rather than a CD8-positive predominant infiltration. Additionally noticed is complement deposition, and reports have indicated an overlap with pattern II MS pathology.<ref name="PMID:32048003.">{{cite journal |vauthors Höftberger R |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein.The pathology of central nervous system inflammatory demyelinating disease accompanying myelin oligodendrocyte glycoprotein autoantibody. Acta Neuropathol. 2020 May;139(5):875-892 |PMID=32048003|url=}}</ref> <ref name="PMID:32412053..">{{cite journal |vauthors Takai Y |title= Japan MOG-antibody Disease Consortium. Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study. Brain. 2020 May 1;143(5):1431-1446. |PMID=32412053.|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease epidemiology and demographics|'''Epidemiology and Demographics''']]==
[[Category:Neurology]]

Because myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) was just identified in 2007 and broad testing was not accessible for several years to a decade later, the epidemiology data for MOGAD are limited. As a result, the prevalence of MOGAD may have been overstated in early epidemiological data. Although research conducted in Europe imply that the incidence of MOGAD is between 1.6 and 3.4 per 1,000,000 person-years, the prevalence and incidence remain mostly unknown.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease |CLINICAL FEATURES ]]==

assaults that are extremely distinctive — Although none of the clinical characteristics of MOGAD are unique to the condition, several are. Among these are severe episodes of:

optic Neuritis:

● Optic neuritis, either unilateral or bilateral, causing profound vision loss
●Acute disseminated encephalomyelitis (ADEM), presenting with localized neurologic abnormalities, transverse myelitis characteristics, and impaired mental status
●Transverse myelitis, which frequently results in sensory loss, limb weakness, and problems with the bowel, bladder, or sex
MOGAD may progress in a relapsing or monophasic manner.

Attacks often take days to develop, peak, and then recover in different ways over the course of weeks or months. Attacks might be preceded by a vaccine or an infectious disease.<ref name="PMID: 29136091">{{cite journal |vauthors Jurynczyk M |title= Clinical presentation and prognosis in MOG-antibody disease: a UK study. Brain. 2017 Dec 1;140(12):3128-3138. doi: 10.1093/brain/awx276. Erratum in: Brain. 2018 Apr 1;141(4):e31. |PMID= 29136091.|url=}}</ref> <ref name="PMID:30055153">{{cite journal |vauthors Chen JJ |title= Myelin Oligodendrocyte Glycoprotein Antibody-Positive Optic Neuritis: Clinical Characteristics, Radiologic Clues, and Outcome. Am J Ophthalmol. 2018 Nov;195:8-15. doi: 10.1016/j.ajo.2018.07.020. Epub 2018 Jul 26. |PMID= 30055153|url=}}</ref>

There might be further involvement of the central nervous system (CNS), such as the clinical syndrome of neuromyelitis optica spectrum disease (NMOSD) in which there is no detectable level of aquaporin-4-immunoglobulin G (AQP4-IgG). The latter is typified by optic neuritis and transverse myelitis in any combination, occasionally with involvement of other CNS areas. Unilateral cerebral cortical encephalitis, which can cause seizures, headaches, and other focal neurologic symptoms, is another symptom that patients with MOGAD may exhibit. Although the brainstem can also be affected, this usually happens in conjunction with more extensive ADEM rather than on its own.

Any inflammatory illness or an idiopathic cause can result in optic neuritis, or inflammation of the optic nerve. While there are certain clinical signs that may indicate MOGAD, the hallmarks of optic neuritis in MOGAD are similar to those of multiple sclerosis and AQP4-IgG NMOSD. All forms of optic neuritis commonly generate pain with eye movement, and in most MOGAD instances, this occurs before to vision loss. Once more, in pediatric patients, this may be characterized as a headache, and in young children, making a precise differentiation may be difficult. With a median visual acuity at nadir of counting fingers, vision loss is usually central and severe (more severe in MOGAD than in multiple sclerosis [MS], but equivalent in severity to AQP4-IgG NMOSD).

Transverse myelitis:

This condition is characterized by inflammation across the spinal cord parenchyma, which results in neurologic impairment. It can progress over several hours or days, peaking within 21 days. This is a quick review of transverse myelitis, which is covered in more depth elsewhere.<ref name="PMID:12236201">{{cite journal |vauthors |title= Transverse Myelitis Consortium Working Group. Proposed diagnostic criteria and nosology of acute transverse myelitis. Neurology. 2002 Aug 27;59(4):499-505.|PMID= 12236201|url=}}</ref>

When a person has MOGAD, their spinal cord may be affected alone or in combination with other parts of their brain.
A sensory level throughout the trunk and a subacute start of paraparesis or quadriparesis with loss of feeling below the lesion are among the symptoms. In addition to erectile dysfunction in men, neurogenic bowel and bladder disorders are widespread, potentially due to frequent involvement of the conus<ref name="PMID:30575890">{{cite journal |vauthors:Dubey D |title= Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody. JAMA Neurol. 2019 Mar 1;76(3):301-309. doi: 10.1001/jamaneurol.2018.4053. |PMID= 30575890|url=}}</ref>

AQP4-IgG-seronegative NMOSD:

Given that MOGAD has been linked to both optic neuritis and LETM, it is not unexpected that between one-third and half of individuals with the clinical syndrome of NMOSD do not have aquaporin-4-IgG identified. Nevertheless, only 20 to 30 percent of MOGAD patients will meet the requirements for AQP4-IgG seronegative NMOSD, indicating the necessity for MOGAD to have its own unique set of diagnostic standards.<ref name="PMID:31596489">{{cite journal |vauthors: Mariano R |title= Comparison of Clinical Outcomes of Transverse Myelitis Among Adults With Myelin Oligodendrocyte Glycoprotein Antibody vs Aquaporin-4 Antibody Disease. JAMA Netw Open. 2019 Oct 2;2(10):e1912732. doi: 10.1001/jamanetworkopen.2019.12732. doi: 10.1001/jamaneurol.2018.4053. |PMID= 31596489|url=}}</ref>

ADEM:

A initial polyfocal CNS episode from suspected demyelination, accompanied by encephalopathy not explained by fever, systemic disease, or postictal characteristics, characterizes this clinical condition. Large, poorly defined white matter lesions, either with or without gray matter lesions, are required MRI abnormalities.
While ADEM is often monophasic, a small percentage of individuals have relapsing illness defined as multiphasic ADEM, which is characterized by numerous independent ADEM attacks; traditionally, many of these people may have had MOGAD. Thirty to fifty percent of ADEM patients have myelin oligodendrocyte glycoprotein (MOG)-IgG, and its presence may indicate a greater risk of recurrence <ref name="PMID:23572237.">{{cite journal |vauthors: Krupp LB |title= International Pediatric Multiple Sclerosis Study Group. International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions. Mult Scler. 2013 Sep;19(10):1261-7. doi: 10.1177/1352458513484547. Epub 2013 Apr 9. |PMID= 23572237.|url=}}</ref>.

other cerebral monofocal or polyfocal defects:

Neurologic abnormalities associated with MOGAD can manifest as either monofocal or polyfocal deficits, and they can progress over many hours to days. The middle cerebellar peduncle, periventricular (fourth ventricle area), supratentorial white matter, juxtacortical, cortical, and/or deep gray nuclei are the usual locations of demyelinating brain lesions that cause them. On T2-weighted MRI sequences, these lesions are hyperintense; they may or may not enhance with gadolinium. Keep in mind that periventricular lesions are less frequent in multiple sclerosis patients <ref name="PMID:36706773.">{{cite journal |vauthors: Banwell B |title= Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24.|PMID= 36706773.|url=}}</ref>.

Brainstem and cerebellar features:

Compared to multiple sclerosis, isolated brainstem attacks associated with MOGAD are less prevalent. These areas are often affected as part of a multifocal CNS demyelinating onslaught that also affects other brain, optic nerve, and/or spinal cord regions. Clinical accompaniments most frequently seen include ataxia and diplopia. It is uncommon to experience a unique region postrema syndrome typical of AQP4-IgG NMOSD with isolated persistent nausea, vomiting, and hiccups, but nausea and vomiting may occur as a component of ADEM or its accompanying viral prodrome.

Cerebral cortical encephalitis :

The condition known as cerebral cortical encephalitis is a new clinical disease that is recently identified as a MOGAD characteristic. Seizures, aphasia, stroke-like events, headaches, and fever are examples of clinical symptoms <ref name="PMID:28105459.">{{cite journal |vauthors: Ogawa R|title= MOG antibody-positive, benign, unilateral, cerebral cortical encephalitis with epilepsy. Neurol Neuroimmunol Neuroinflamm. 2017 Jan 16;4(2):e322. doi: 10.1212/NXI.0000000000000322.|PMID= 28105459.|url=}}</ref> . Up to 80% of cases are unilateral, with symptoms limited to one hemisphere. Cortical edema, T2 hyperintensity, and leptomeningeal enhancement are also observed radiologically. Reports of T2 hypointensity in the surrounding white matter have also been recorded.

Children :

About half of all MOGAD event cases involve children, who appear to be susceptible to the disease. Positive MOG antibodies have been identified as a frequent finding in first presentations, and around one-third of pediatric acute acquired demyelinating syndromes have MOG-IgG.In the majority of children presenting with MOGAD, the clinical phenotype is that of ADEM, optic neuritis, or a combination of both, followed by transverse myelitis <ref name="PMID:32057303.">{{cite journal |vauthors: Armangue T|title= Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study. Lancet Neurol. 2020 Mar;19(3):234-246. doi: 10.1016/S1474-4422(19)30488-0. Epub 2020 Feb 10. Erratum in: Lancet Neurol. 2020 Apr;19(4):e4. doi: 10.1016/S1474-4422(20)30074-0. |PMID= 32057303..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Investigations]]==

The following imaging and laboratory investigations are part of the initial presentation evaluation for suspected MOGAD:

●MRI, both with and without contrast of any symptomatic neuraxis area, as well as all of the following in the event that the diagnosis is unclear or encephalopathy interferes with the neurologic exam:
•Images with fat saturation and orbits
• Central nervous system
●MOG-IgG serum, examined by a cellular assay (see to 'MOG autoantibody' below)
●CSF analysis for routine studies (e.g., cell count, differential) and oligoclonal bands; polymerase chain reaction (PCR) testing for viral infections in selected patients; testing CSF for NMDA receptor antibodies in selected patients with features suggestive of anti-N-methyl-D-aspartate (NMDA) receptor encephalitis (orofacial dyskinesias, psychosis, seizures).

'''MRI orbits''':

-An MRI of the orbits, both with and without gadolinium contrast, as well as pictures showing fat saturation, commonly known as fat suppression, might provide valuable information for MOGAD. Adult cases of optic neuritis are more prevalent, and orbital MRI is a more sensitive method of diagnosing optic neuritis than brain MRI <ref name="PMID: 26163068.">{{cite journal |vauthors: Ramanathan S|title= Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis. Mult Scler. 2016 Apr;22(4):470-82. doi: 10.1177/1352458515593406. Epub 2015 Jul 10 |PMID= 26163068.|url=}}</ref> .

'''MRI Brain''':

-Many big, fuzzy, poorly defined T2 hyperintensities of the white matter are characteristic of ADEM or ADEM-like presentations of MOGAD. deep gray matter involvement involving either one or both thalamic or basal ganglia T2 hyperintensities are widely known to help differentiate MOGAD from MS, despite the fact that AQP4-IgG NMOSD and these imaging findings overlap <ref name="PMID:30014148Association of MOG-IgG Serostatus With Relapse After Acute Disseminated Encephalomyelitis and Proposed Diagnostic Criteria for MOG-IgG-Associated Disorders. JAMA Neurol. 2018 Nov 1;75(11):1355-1363. doi: 10.1001/jamaneurol.2018.1814. |PMID= 30014148|url=}}</ref"></ref> .

'''MRI of the spinal cord:'''

-Most patients (60 to 100 percent) with MOGAD had longitudinally significant spinal cord lesions on T2-weighted sagittal spine MRI spanning ≥3 vertebral segments. These can appear alone or in conjunction with other short or longitudinally extensive lesions; although solitary short lesions are uncommon, it is nevertheless important to rule out multiple sclerosis (MS), especially if they are peripherally placed or show a ring of enhancement.

'''MOG autoantibody''':

A cell-based assay is used to check for serum MOG-IgG antibody. Patients with classic MOGAD clinical, MRI, and laboratory characteristics as well as those with a CNS demyelinating disease that is not consistent with multiple sclerosis should be tested. Given the possibility of false positive results, clinical judgment is needed both in the patient selection process for MOG-IgG testing as well as in the interpretation of positive data <ref name="PMID:31645473.| author: Mariotto S| title: Relevance of antibodies to myelin oligodendrocyte glycoprotein in CSF of seronegative cases. Neurology. 2019 Nov 12;93(20):e1867-e1872. doi: 10.1212/WNL.0000000000008479. Epub 2019 Oct 23 |PMID= 31645473.|url=}}</ref> <ref name="PMID:31645473..| author:Akaishi T| title: Difference in the Source of Anti-AQP4-IgG and Anti-MOG-IgG Antibodies in CSF in Patients With Neuromyelitis Optica Spectrum Disorder. Neurology. 2021 Jul 6;97(1):e1-e12. doi: 10.1212/WNL.0000000000012175. Epub 2021 May 12. PMID: 33980704; PMCID: PMC8312856.000000008479. Epub 2019 Oct 23. |PMID= 31645473.|url=}}</ref> .

It is not advised to do uniform MOG-IgG testing on individuals who have clinical symptoms and MRI findings indicative of multiple sclerosis.

Given that MOG-IgG is the defining factor for MOGAD, it is imperative that doctors possess a basic understanding of the MOG-IgG test, particularly with regard to the possibility of false positive results at low titer. Here is a summary of some MOG-IgG testing guidelines and common mistakes.

'''Optical coherence tomography (OCT):'''

This is a type of imaging that uses near-infrared light to produce quantitative data on the sizes of the different layers of the retina. Since that optic neuritis is the most prevalent symptom of MOGAD in adult patients, OCT is a valuable diagnostic tool. OCT can measure the degree of previous optic nerve injury, identify previous bouts of optic neuritis, and evaluate the acute characteristics of the condition <ref name="PMID:33832689.| author: Costello F| title: The role of optical coherence tomography in the diagnosis of afferent visual pathway problems: A neuroophthalmic perspective. Handb Clin Neurol. 2021;178:97-113. doi: 10.1016/B978-0-12-821377-3.00007-6. |PMID= 33832689.url=}}</ref> .

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Diagnostic Criteria]]==

The diagnostic criteria that have been proposed for MOGAD necessitate the following <ref name="PMID:36706773| author: Banwell B| title: Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24. |PMID= 36706773| url=}}</ref> :

●A central clinical demyelinating event being present:
•Optic neuritis, as previously mentioned
•Transverse myelitis (see to the section above on this condition)
The disease known as acute disseminated encephalomyelitis (ADEM) (see 'ADEM' above)
•deficiencies that are cerebral, either mono- or polyfocal (see 'Cerebral monofocal or polyfocal deficiencies' above)
•Deficits related to the brainstem or cerebellum (see 'Brainstem and cerebellar characteristics' above)
Brain cortical encephalitis, frequently accompanied by seizures (see to the sections on "Cerebral cortical encephalitis" and "Seizures" above).

●A myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) test that is considered positive when it exhibits the above-described, definite positivity.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Treatment]]==

'''MEDICAL CARE'''

Treatment for acute attacks and techniques for preventing attacks can be used to stratify MOGAD treatment <ref name="PMID:31355308| author: Stiebel-Kalish H| title: Does time equal vision in the acute treatment of a cohort of AQP4 and MOG optic neuritis? Neurol Neuroimmunol Neuroinflamm. 2019 May 21;6(4):e572. doi: 10.1212/NXI.0000000000000572. |PMID= 31355308| url=}}</ref> .

Treatment for acute attacks: Since MOGAD acute episodes are often severe, nearly all of them are handled. It is a good idea to begin acute therapy as soon as possible since some research suggests that administering glucocorticoids early in acute assaults may avoid long-term harm.

●'''High-dose glucocorticoids:''' For five days in a row, we advise starting therapy with high-dose intravenous (IV) methylprednisolone (1000 mg for adults, 20 to 30 mg/kg daily for children). This is supported by research on idiopathic optic neuritis and multiple sclerosis (MS), and it is in line with expert panel guidelines.

==Diagnosis==
[[Myelin oligodendrocyte glycoprotein antibody-associated disease history and symptoms|History and Symptoms]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease physical examination|Physical Examination]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease laboratory findings|Laboratory Findings]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease electrocardiogram|Electrocardiogram]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease x ray|X Ray]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease CT|CT]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease MRI|MRI]] | [[Myelin oligodendrocyte

Myelin oligodendrocyte glycoprotein antibody-associated disease

2024-07-21T06:34:15Z

Rithish Nimmagadda:

__NOTOC__
{{Myelin oligodendrocyte glycoprotein antibody-associated disease}}
{{CMG}};Associate Editor(s)-in-Chief: {{VSRN}}

'''''Synonyms and Keywords:''''' [[encephalomyelitis]]; [[Autoimmune]] [[demyelinating disease]] of [[central nervous system]]

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease overview|'''Overview''']]==

An inflammatory condition of the central nervous system, myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is characterized by immune-mediated demyelination assaults that mostly affect the brain, spinal cord, and optic nerves. Children are particularly vulnerable to this condition.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease historical perspective|'''Historical Perspective''']]==

A protein on the surface of oligodendrocytes called myelin oligodendrocyte glycoprotein (MOG) was previously thought to be a possible target for antibodies in multiple sclerosis (MS), although preliminary research was equivocal. A significant development was the association of MOG-immunoglobulin G (IgG) with a distinct demyelinating illness in 2007. In a research utilizing MOG self-antigen tetramers found by radioimmunoassay, MOG antibodies were infrequently found in adult MS patients but were present in a subgroup of individuals with acute disseminated encephalomyelitis (ADEM).

However,With the development of newer generation cell-based tests, the MOGAD phenotype became more defined, and patients were now identified as having bouts of optic neuritis, ADEM, transverse myelitis, or other signs of the central nervous system (CNS), either alone or in combination. Distinguishing MOGAD from MS and aquaporin-4-IgG seropositive neuromyelitis optica spectrum disease (AQP4-IgG NMOSD) involved both shared and significant distinctions in terms of clinical, radiographic, and cerebrospinal fluid characteristics. As a result, MOGAD is now recognized as a unique CNS demyelinating illness.<ref name="PMID: 17237795.">{{cite journal |vauthors O'Connor KC |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein. Nat Med. 2007 Feb;13(2):211-7. doi: 10.1038/nm1488. Epub 2007 Jan 12. |PMID=17278121..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease pathophysiology|'''Pathophysiology''']]==

The discovery of a disease-specific serum immunoglobulin G (IgG) antibody that selectively binds myelin oligodendrocyte glycoprotein (MOG) has led to increased understanding of a diverse spectrum of disorders, which are now termed MOGAD. Overall, the pathologic features support an antibody-mediated central nervous system (CNS) demyelinating disease distinct from multiple sclerosis (MS).

The majority of human pathology investigations on MOGAD have concentrated on the brain lesions seen during biopsy or autopsy, which has shed some light on the disease's pathophysiology. Perivenous and confluent demyelination have been shown to coexist in these investigations. Intracortical demyelinating lesions are more common than cortical demyelinating lesions. In one case series, selective MOG loss was found, but not in another. It is different from MS in that there is usually a CD4-positive T cell inflammatory response with granulocytic inflammation rather than a CD8-positive predominant infiltration. Additionally noticed is complement deposition, and reports have indicated an overlap with pattern II MS pathology.<ref name="PMID:32048003.">{{cite journal |vauthors Höftberger R |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein.The pathology of central nervous system inflammatory demyelinating disease accompanying myelin oligodendrocyte glycoprotein autoantibody. Acta Neuropathol. 2020 May;139(5):875-892 |PMID=32048003|url=}}</ref> <ref name="PMID:32412053..">{{cite journal |vauthors Takai Y |title= Japan MOG-antibody Disease Consortium. Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study. Brain. 2020 May 1;143(5):1431-1446. |PMID=32412053.|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease epidemiology and demographics|'''Epidemiology and Demographics''']]==
[[Category:Neurology]]

Because myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) was just identified in 2007 and broad testing was not accessible for several years to a decade later, the epidemiology data for MOGAD are limited. As a result, the prevalence of MOGAD may have been overstated in early epidemiological data. Although research conducted in Europe imply that the incidence of MOGAD is between 1.6 and 3.4 per 1,000,000 person-years, the prevalence and incidence remain mostly unknown.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease |CLINICAL FEATURES ]]==

assaults that are extremely distinctive — Although none of the clinical characteristics of MOGAD are unique to the condition, several are. Among these are severe episodes of:

optic Neuritis:

● Optic neuritis, either unilateral or bilateral, causing profound vision loss
●Acute disseminated encephalomyelitis (ADEM), presenting with localized neurologic abnormalities, transverse myelitis characteristics, and impaired mental status
●Transverse myelitis, which frequently results in sensory loss, limb weakness, and problems with the bowel, bladder, or sex
MOGAD may progress in a relapsing or monophasic manner.

Attacks often take days to develop, peak, and then recover in different ways over the course of weeks or months. Attacks might be preceded by a vaccine or an infectious disease.<ref name="PMID: 29136091">{{cite journal |vauthors Jurynczyk M |title= Clinical presentation and prognosis in MOG-antibody disease: a UK study. Brain. 2017 Dec 1;140(12):3128-3138. doi: 10.1093/brain/awx276. Erratum in: Brain. 2018 Apr 1;141(4):e31. |PMID= 29136091.|url=}}</ref> <ref name="PMID:30055153">{{cite journal |vauthors Chen JJ |title= Myelin Oligodendrocyte Glycoprotein Antibody-Positive Optic Neuritis: Clinical Characteristics, Radiologic Clues, and Outcome. Am J Ophthalmol. 2018 Nov;195:8-15. doi: 10.1016/j.ajo.2018.07.020. Epub 2018 Jul 26. |PMID= 30055153|url=}}</ref>

There might be further involvement of the central nervous system (CNS), such as the clinical syndrome of neuromyelitis optica spectrum disease (NMOSD) in which there is no detectable level of aquaporin-4-immunoglobulin G (AQP4-IgG). The latter is typified by optic neuritis and transverse myelitis in any combination, occasionally with involvement of other CNS areas. Unilateral cerebral cortical encephalitis, which can cause seizures, headaches, and other focal neurologic symptoms, is another symptom that patients with MOGAD may exhibit. Although the brainstem can also be affected, this usually happens in conjunction with more extensive ADEM rather than on its own.

Any inflammatory illness or an idiopathic cause can result in optic neuritis, or inflammation of the optic nerve. While there are certain clinical signs that may indicate MOGAD, the hallmarks of optic neuritis in MOGAD are similar to those of multiple sclerosis and AQP4-IgG NMOSD. All forms of optic neuritis commonly generate pain with eye movement, and in most MOGAD instances, this occurs before to vision loss. Once more, in pediatric patients, this may be characterized as a headache, and in young children, making a precise differentiation may be difficult. With a median visual acuity at nadir of counting fingers, vision loss is usually central and severe (more severe in MOGAD than in multiple sclerosis [MS], but equivalent in severity to AQP4-IgG NMOSD).

Transverse myelitis:

This condition is characterized by inflammation across the spinal cord parenchyma, which results in neurologic impairment. It can progress over several hours or days, peaking within 21 days. This is a quick review of transverse myelitis, which is covered in more depth elsewhere.<ref name="PMID:12236201">{{cite journal |vauthors |title= Transverse Myelitis Consortium Working Group. Proposed diagnostic criteria and nosology of acute transverse myelitis. Neurology. 2002 Aug 27;59(4):499-505.|PMID= 12236201|url=}}</ref>

When a person has MOGAD, their spinal cord may be affected alone or in combination with other parts of their brain.
A sensory level throughout the trunk and a subacute start of paraparesis or quadriparesis with loss of feeling below the lesion are among the symptoms. In addition to erectile dysfunction in men, neurogenic bowel and bladder disorders are widespread, potentially due to frequent involvement of the conus<ref name="PMID:30575890">{{cite journal |vauthors:Dubey D |title= Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody. JAMA Neurol. 2019 Mar 1;76(3):301-309. doi: 10.1001/jamaneurol.2018.4053. |PMID= 30575890|url=}}</ref>

AQP4-IgG-seronegative NMOSD:

Given that MOGAD has been linked to both optic neuritis and LETM, it is not unexpected that between one-third and half of individuals with the clinical syndrome of NMOSD do not have aquaporin-4-IgG identified. Nevertheless, only 20 to 30 percent of MOGAD patients will meet the requirements for AQP4-IgG seronegative NMOSD, indicating the necessity for MOGAD to have its own unique set of diagnostic standards.<ref name="PMID:31596489">{{cite journal |vauthors: Mariano R |title= Comparison of Clinical Outcomes of Transverse Myelitis Among Adults With Myelin Oligodendrocyte Glycoprotein Antibody vs Aquaporin-4 Antibody Disease. JAMA Netw Open. 2019 Oct 2;2(10):e1912732. doi: 10.1001/jamanetworkopen.2019.12732. doi: 10.1001/jamaneurol.2018.4053. |PMID= 31596489|url=}}</ref>

ADEM:

A initial polyfocal CNS episode from suspected demyelination, accompanied by encephalopathy not explained by fever, systemic disease, or postictal characteristics, characterizes this clinical condition. Large, poorly defined white matter lesions, either with or without gray matter lesions, are required MRI abnormalities.
While ADEM is often monophasic, a small percentage of individuals have relapsing illness defined as multiphasic ADEM, which is characterized by numerous independent ADEM attacks; traditionally, many of these people may have had MOGAD. Thirty to fifty percent of ADEM patients have myelin oligodendrocyte glycoprotein (MOG)-IgG, and its presence may indicate a greater risk of recurrence <ref name="PMID:23572237.">{{cite journal |vauthors: Krupp LB |title= International Pediatric Multiple Sclerosis Study Group. International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions. Mult Scler. 2013 Sep;19(10):1261-7. doi: 10.1177/1352458513484547. Epub 2013 Apr 9. |PMID= 23572237.|url=}}</ref>.

other cerebral monofocal or polyfocal defects:

Neurologic abnormalities associated with MOGAD can manifest as either monofocal or polyfocal deficits, and they can progress over many hours to days. The middle cerebellar peduncle, periventricular (fourth ventricle area), supratentorial white matter, juxtacortical, cortical, and/or deep gray nuclei are the usual locations of demyelinating brain lesions that cause them. On T2-weighted MRI sequences, these lesions are hyperintense; they may or may not enhance with gadolinium. Keep in mind that periventricular lesions are less frequent in multiple sclerosis patients <ref name="PMID:36706773.">{{cite journal |vauthors: Banwell B |title= Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24.|PMID= 36706773.|url=}}</ref>.

Brainstem and cerebellar features:

Compared to multiple sclerosis, isolated brainstem attacks associated with MOGAD are less prevalent. These areas are often affected as part of a multifocal CNS demyelinating onslaught that also affects other brain, optic nerve, and/or spinal cord regions. Clinical accompaniments most frequently seen include ataxia and diplopia. It is uncommon to experience a unique region postrema syndrome typical of AQP4-IgG NMOSD with isolated persistent nausea, vomiting, and hiccups, but nausea and vomiting may occur as a component of ADEM or its accompanying viral prodrome.

Cerebral cortical encephalitis :

The condition known as cerebral cortical encephalitis is a new clinical disease that is recently identified as a MOGAD characteristic. Seizures, aphasia, stroke-like events, headaches, and fever are examples of clinical symptoms <ref name="PMID:28105459.">{{cite journal |vauthors: Ogawa R|title= MOG antibody-positive, benign, unilateral, cerebral cortical encephalitis with epilepsy. Neurol Neuroimmunol Neuroinflamm. 2017 Jan 16;4(2):e322. doi: 10.1212/NXI.0000000000000322.|PMID= 28105459.|url=}}</ref> . Up to 80% of cases are unilateral, with symptoms limited to one hemisphere. Cortical edema, T2 hyperintensity, and leptomeningeal enhancement are also observed radiologically. Reports of T2 hypointensity in the surrounding white matter have also been recorded.

Children :

About half of all MOGAD event cases involve children, who appear to be susceptible to the disease. Positive MOG antibodies have been identified as a frequent finding in first presentations, and around one-third of pediatric acute acquired demyelinating syndromes have MOG-IgG.In the majority of children presenting with MOGAD, the clinical phenotype is that of ADEM, optic neuritis, or a combination of both, followed by transverse myelitis <ref name="PMID:32057303.">{{cite journal |vauthors: Armangue T|title= Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study. Lancet Neurol. 2020 Mar;19(3):234-246. doi: 10.1016/S1474-4422(19)30488-0. Epub 2020 Feb 10. Erratum in: Lancet Neurol. 2020 Apr;19(4):e4. doi: 10.1016/S1474-4422(20)30074-0. |PMID= 32057303..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Investigations]]==

The following imaging and laboratory investigations are part of the initial presentation evaluation for suspected MOGAD:

●MRI, both with and without contrast of any symptomatic neuraxis area, as well as all of the following in the event that the diagnosis is unclear or encephalopathy interferes with the neurologic exam:
•Images with fat saturation and orbits
• Central nervous system
●MOG-IgG serum, examined by a cellular assay (see to 'MOG autoantibody' below)
●CSF analysis for routine studies (e.g., cell count, differential) and oligoclonal bands; polymerase chain reaction (PCR) testing for viral infections in selected patients; testing CSF for NMDA receptor antibodies in selected patients with features suggestive of anti-N-methyl-D-aspartate (NMDA) receptor encephalitis (orofacial dyskinesias, psychosis, seizures).

'''MRI orbits''':

-An MRI of the orbits, both with and without gadolinium contrast, as well as pictures showing fat saturation, commonly known as fat suppression, might provide valuable information for MOGAD. Adult cases of optic neuritis are more prevalent, and orbital MRI is a more sensitive method of diagnosing optic neuritis than brain MRI <ref name="PMID: 26163068.">{{cite journal |vauthors: Ramanathan S|title= Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis. Mult Scler. 2016 Apr;22(4):470-82. doi: 10.1177/1352458515593406. Epub 2015 Jul 10 |PMID= 26163068.|url=}}</ref> .

'''MRI Brain''':

-Many big, fuzzy, poorly defined T2 hyperintensities of the white matter are characteristic of ADEM or ADEM-like presentations of MOGAD. deep gray matter involvement involving either one or both thalamic or basal ganglia T2 hyperintensities are widely known to help differentiate MOGAD from MS, despite the fact that AQP4-IgG NMOSD and these imaging findings overlap <ref name="PMID:30014148Association of MOG-IgG Serostatus With Relapse After Acute Disseminated Encephalomyelitis and Proposed Diagnostic Criteria for MOG-IgG-Associated Disorders. JAMA Neurol. 2018 Nov 1;75(11):1355-1363. doi: 10.1001/jamaneurol.2018.1814. |PMID= 30014148|url=}}</ref"></ref> .

'''MRI of the spinal cord:'''

-Most patients (60 to 100 percent) with MOGAD had longitudinally significant spinal cord lesions on T2-weighted sagittal spine MRI spanning ≥3 vertebral segments. These can appear alone or in conjunction with other short or longitudinally extensive lesions; although solitary short lesions are uncommon, it is nevertheless important to rule out multiple sclerosis (MS), especially if they are peripherally placed or show a ring of enhancement.

'''MOG autoantibody''':

A cell-based assay is used to check for serum MOG-IgG antibody. Patients with classic MOGAD clinical, MRI, and laboratory characteristics as well as those with a CNS demyelinating disease that is not consistent with multiple sclerosis should be tested. Given the possibility of false positive results, clinical judgment is needed both in the patient selection process for MOG-IgG testing as well as in the interpretation of positive data <ref name="PMID:31645473.| author: Mariotto S| title: Relevance of antibodies to myelin oligodendrocyte glycoprotein in CSF of seronegative cases. Neurology. 2019 Nov 12;93(20):e1867-e1872. doi: 10.1212/WNL.0000000000008479. Epub 2019 Oct 23 |PMID= 31645473.|url=}}</ref> <ref name="PMID:31645473..| author:Akaishi T| title: Difference in the Source of Anti-AQP4-IgG and Anti-MOG-IgG Antibodies in CSF in Patients With Neuromyelitis Optica Spectrum Disorder. Neurology. 2021 Jul 6;97(1):e1-e12. doi: 10.1212/WNL.0000000000012175. Epub 2021 May 12. PMID: 33980704; PMCID: PMC8312856.000000008479. Epub 2019 Oct 23. |PMID= 31645473.|url=}}</ref> .

It is not advised to do uniform MOG-IgG testing on individuals who have clinical symptoms and MRI findings indicative of multiple sclerosis.

Given that MOG-IgG is the defining factor for MOGAD, it is imperative that doctors possess a basic understanding of the MOG-IgG test, particularly with regard to the possibility of false positive results at low titer. Here is a summary of some MOG-IgG testing guidelines and common mistakes.

'''Optical coherence tomography (OCT):'''

This is a type of imaging that uses near-infrared light to produce quantitative data on the sizes of the different layers of the retina. Since that optic neuritis is the most prevalent symptom of MOGAD in adult patients, OCT is a valuable diagnostic tool. OCT can measure the degree of previous optic nerve injury, identify previous bouts of optic neuritis, and evaluate the acute characteristics of the condition <ref name="PMID:33832689.| author: Costello F| title: The role of optical coherence tomography in the diagnosis of afferent visual pathway problems: A neuroophthalmic perspective. Handb Clin Neurol. 2021;178:97-113. doi: 10.1016/B978-0-12-821377-3.00007-6. |PMID= 33832689.url=}}</ref> .

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Diagnostic Criteria]]==

The diagnostic criteria that have been proposed for MOGAD necessitate the following <ref name="PMID:36706773| author: Banwell B| title: Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24. |PMID= 36706773| url=}}</ref> :

●A central clinical demyelinating event being present:
•Optic neuritis, as previously mentioned
•Transverse myelitis (see to the section above on this condition)
The disease known as acute disseminated encephalomyelitis (ADEM) (see 'ADEM' above)
•deficiencies that are cerebral, either mono- or polyfocal (see 'Cerebral monofocal or polyfocal deficiencies' above)
•Deficits related to the brainstem or cerebellum (see 'Brainstem and cerebellar characteristics' above)
Brain cortical encephalitis, frequently accompanied by seizures (see to the sections on "Cerebral cortical encephalitis" and "Seizures" above).

●A myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) test that is considered positive when it exhibits the above-described, definite positivity.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Treatment]]==

'''MEDICAL CARE'''

Treatment for acute attacks and techniques for preventing attacks can be used to stratify MOGAD treatment <ref name="PMID:31355308| author: Stiebel-Kalish H| title: Does time equal vision in the acute treatment of a cohort of AQP4 and MOG optic neuritis? Neurol Neuroimmunol Neuroinflamm. 2019 May 21;6(4):e572. doi: 10.1212/NXI.0000000000000572. |PMID= 31355308| url=}}</ref> .

Treatment for acute attacks: Since MOGAD acute episodes are often severe, nearly all of them are handled. It is a good idea to begin acute therapy as soon as possible since some research suggests that administering glucocorticoids early in acute assaults may avoid long-term harm.

●'''High-dose glucocorticoids:''' For five days in a row, we advise starting therapy with high-dose intravenous (IV) methylprednisolone (1000 mg for adults, 20 to 30 mg/kg daily for children). This is supported by research on idiopathic optic neuritis and multiple sclerosis (MS), and it is in line with expert panel guidelines.

==Diagnosis==
[[Myelin oligodendrocyte glycoprotein antibody-associated disease history and symptoms|History and Symptoms]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease physical examination|Physical Examination]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease laboratory findings|Laboratory Findings]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease electrocardiogram|Electrocardiogram]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease x ray|X Ray]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease CT|CT]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease MRI|MRI]] | [[Myelin oligodendrocyte

Myelin oligodendrocyte glycoprotein antibody-associated disease

2024-07-21T06:33:58Z

Rithish Nimmagadda:

__NOTOC__
{{Myelin oligodendrocyte glycoprotein antibody-associated disease}}
{{CMG}};Associate Editor(s)-in-Chief: {{VSRN}}
'''''Synonyms and Keywords:''''' [[encephalomyelitis]]; [[Autoimmune]] [[demyelinating disease]] of [[central nervous system]]

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease overview|'''Overview''']]==

An inflammatory condition of the central nervous system, myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is characterized by immune-mediated demyelination assaults that mostly affect the brain, spinal cord, and optic nerves. Children are particularly vulnerable to this condition.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease historical perspective|'''Historical Perspective''']]==

A protein on the surface of oligodendrocytes called myelin oligodendrocyte glycoprotein (MOG) was previously thought to be a possible target for antibodies in multiple sclerosis (MS), although preliminary research was equivocal. A significant development was the association of MOG-immunoglobulin G (IgG) with a distinct demyelinating illness in 2007. In a research utilizing MOG self-antigen tetramers found by radioimmunoassay, MOG antibodies were infrequently found in adult MS patients but were present in a subgroup of individuals with acute disseminated encephalomyelitis (ADEM).

However,With the development of newer generation cell-based tests, the MOGAD phenotype became more defined, and patients were now identified as having bouts of optic neuritis, ADEM, transverse myelitis, or other signs of the central nervous system (CNS), either alone or in combination. Distinguishing MOGAD from MS and aquaporin-4-IgG seropositive neuromyelitis optica spectrum disease (AQP4-IgG NMOSD) involved both shared and significant distinctions in terms of clinical, radiographic, and cerebrospinal fluid characteristics. As a result, MOGAD is now recognized as a unique CNS demyelinating illness.<ref name="PMID: 17237795.">{{cite journal |vauthors O'Connor KC |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein. Nat Med. 2007 Feb;13(2):211-7. doi: 10.1038/nm1488. Epub 2007 Jan 12. |PMID=17278121..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease pathophysiology|'''Pathophysiology''']]==

The discovery of a disease-specific serum immunoglobulin G (IgG) antibody that selectively binds myelin oligodendrocyte glycoprotein (MOG) has led to increased understanding of a diverse spectrum of disorders, which are now termed MOGAD. Overall, the pathologic features support an antibody-mediated central nervous system (CNS) demyelinating disease distinct from multiple sclerosis (MS).

The majority of human pathology investigations on MOGAD have concentrated on the brain lesions seen during biopsy or autopsy, which has shed some light on the disease's pathophysiology. Perivenous and confluent demyelination have been shown to coexist in these investigations. Intracortical demyelinating lesions are more common than cortical demyelinating lesions. In one case series, selective MOG loss was found, but not in another. It is different from MS in that there is usually a CD4-positive T cell inflammatory response with granulocytic inflammation rather than a CD8-positive predominant infiltration. Additionally noticed is complement deposition, and reports have indicated an overlap with pattern II MS pathology.<ref name="PMID:32048003.">{{cite journal |vauthors Höftberger R |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein.The pathology of central nervous system inflammatory demyelinating disease accompanying myelin oligodendrocyte glycoprotein autoantibody. Acta Neuropathol. 2020 May;139(5):875-892 |PMID=32048003|url=}}</ref> <ref name="PMID:32412053..">{{cite journal |vauthors Takai Y |title= Japan MOG-antibody Disease Consortium. Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study. Brain. 2020 May 1;143(5):1431-1446. |PMID=32412053.|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease epidemiology and demographics|'''Epidemiology and Demographics''']]==
[[Category:Neurology]]

Because myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) was just identified in 2007 and broad testing was not accessible for several years to a decade later, the epidemiology data for MOGAD are limited. As a result, the prevalence of MOGAD may have been overstated in early epidemiological data. Although research conducted in Europe imply that the incidence of MOGAD is between 1.6 and 3.4 per 1,000,000 person-years, the prevalence and incidence remain mostly unknown.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease |CLINICAL FEATURES ]]==

assaults that are extremely distinctive — Although none of the clinical characteristics of MOGAD are unique to the condition, several are. Among these are severe episodes of:

optic Neuritis:

● Optic neuritis, either unilateral or bilateral, causing profound vision loss
●Acute disseminated encephalomyelitis (ADEM), presenting with localized neurologic abnormalities, transverse myelitis characteristics, and impaired mental status
●Transverse myelitis, which frequently results in sensory loss, limb weakness, and problems with the bowel, bladder, or sex
MOGAD may progress in a relapsing or monophasic manner.

Attacks often take days to develop, peak, and then recover in different ways over the course of weeks or months. Attacks might be preceded by a vaccine or an infectious disease.<ref name="PMID: 29136091">{{cite journal |vauthors Jurynczyk M |title= Clinical presentation and prognosis in MOG-antibody disease: a UK study. Brain. 2017 Dec 1;140(12):3128-3138. doi: 10.1093/brain/awx276. Erratum in: Brain. 2018 Apr 1;141(4):e31. |PMID= 29136091.|url=}}</ref> <ref name="PMID:30055153">{{cite journal |vauthors Chen JJ |title= Myelin Oligodendrocyte Glycoprotein Antibody-Positive Optic Neuritis: Clinical Characteristics, Radiologic Clues, and Outcome. Am J Ophthalmol. 2018 Nov;195:8-15. doi: 10.1016/j.ajo.2018.07.020. Epub 2018 Jul 26. |PMID= 30055153|url=}}</ref>

There might be further involvement of the central nervous system (CNS), such as the clinical syndrome of neuromyelitis optica spectrum disease (NMOSD) in which there is no detectable level of aquaporin-4-immunoglobulin G (AQP4-IgG). The latter is typified by optic neuritis and transverse myelitis in any combination, occasionally with involvement of other CNS areas. Unilateral cerebral cortical encephalitis, which can cause seizures, headaches, and other focal neurologic symptoms, is another symptom that patients with MOGAD may exhibit. Although the brainstem can also be affected, this usually happens in conjunction with more extensive ADEM rather than on its own.

Any inflammatory illness or an idiopathic cause can result in optic neuritis, or inflammation of the optic nerve. While there are certain clinical signs that may indicate MOGAD, the hallmarks of optic neuritis in MOGAD are similar to those of multiple sclerosis and AQP4-IgG NMOSD. All forms of optic neuritis commonly generate pain with eye movement, and in most MOGAD instances, this occurs before to vision loss. Once more, in pediatric patients, this may be characterized as a headache, and in young children, making a precise differentiation may be difficult. With a median visual acuity at nadir of counting fingers, vision loss is usually central and severe (more severe in MOGAD than in multiple sclerosis [MS], but equivalent in severity to AQP4-IgG NMOSD).

Transverse myelitis:

This condition is characterized by inflammation across the spinal cord parenchyma, which results in neurologic impairment. It can progress over several hours or days, peaking within 21 days. This is a quick review of transverse myelitis, which is covered in more depth elsewhere.<ref name="PMID:12236201">{{cite journal |vauthors |title= Transverse Myelitis Consortium Working Group. Proposed diagnostic criteria and nosology of acute transverse myelitis. Neurology. 2002 Aug 27;59(4):499-505.|PMID= 12236201|url=}}</ref>

When a person has MOGAD, their spinal cord may be affected alone or in combination with other parts of their brain.
A sensory level throughout the trunk and a subacute start of paraparesis or quadriparesis with loss of feeling below the lesion are among the symptoms. In addition to erectile dysfunction in men, neurogenic bowel and bladder disorders are widespread, potentially due to frequent involvement of the conus<ref name="PMID:30575890">{{cite journal |vauthors:Dubey D |title= Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody. JAMA Neurol. 2019 Mar 1;76(3):301-309. doi: 10.1001/jamaneurol.2018.4053. |PMID= 30575890|url=}}</ref>

AQP4-IgG-seronegative NMOSD:

Given that MOGAD has been linked to both optic neuritis and LETM, it is not unexpected that between one-third and half of individuals with the clinical syndrome of NMOSD do not have aquaporin-4-IgG identified. Nevertheless, only 20 to 30 percent of MOGAD patients will meet the requirements for AQP4-IgG seronegative NMOSD, indicating the necessity for MOGAD to have its own unique set of diagnostic standards.<ref name="PMID:31596489">{{cite journal |vauthors: Mariano R |title= Comparison of Clinical Outcomes of Transverse Myelitis Among Adults With Myelin Oligodendrocyte Glycoprotein Antibody vs Aquaporin-4 Antibody Disease. JAMA Netw Open. 2019 Oct 2;2(10):e1912732. doi: 10.1001/jamanetworkopen.2019.12732. doi: 10.1001/jamaneurol.2018.4053. |PMID= 31596489|url=}}</ref>

ADEM:

A initial polyfocal CNS episode from suspected demyelination, accompanied by encephalopathy not explained by fever, systemic disease, or postictal characteristics, characterizes this clinical condition. Large, poorly defined white matter lesions, either with or without gray matter lesions, are required MRI abnormalities.
While ADEM is often monophasic, a small percentage of individuals have relapsing illness defined as multiphasic ADEM, which is characterized by numerous independent ADEM attacks; traditionally, many of these people may have had MOGAD. Thirty to fifty percent of ADEM patients have myelin oligodendrocyte glycoprotein (MOG)-IgG, and its presence may indicate a greater risk of recurrence <ref name="PMID:23572237.">{{cite journal |vauthors: Krupp LB |title= International Pediatric Multiple Sclerosis Study Group. International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions. Mult Scler. 2013 Sep;19(10):1261-7. doi: 10.1177/1352458513484547. Epub 2013 Apr 9. |PMID= 23572237.|url=}}</ref>.

other cerebral monofocal or polyfocal defects:

Neurologic abnormalities associated with MOGAD can manifest as either monofocal or polyfocal deficits, and they can progress over many hours to days. The middle cerebellar peduncle, periventricular (fourth ventricle area), supratentorial white matter, juxtacortical, cortical, and/or deep gray nuclei are the usual locations of demyelinating brain lesions that cause them. On T2-weighted MRI sequences, these lesions are hyperintense; they may or may not enhance with gadolinium. Keep in mind that periventricular lesions are less frequent in multiple sclerosis patients <ref name="PMID:36706773.">{{cite journal |vauthors: Banwell B |title= Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24.|PMID= 36706773.|url=}}</ref>.

Brainstem and cerebellar features:

Compared to multiple sclerosis, isolated brainstem attacks associated with MOGAD are less prevalent. These areas are often affected as part of a multifocal CNS demyelinating onslaught that also affects other brain, optic nerve, and/or spinal cord regions. Clinical accompaniments most frequently seen include ataxia and diplopia. It is uncommon to experience a unique region postrema syndrome typical of AQP4-IgG NMOSD with isolated persistent nausea, vomiting, and hiccups, but nausea and vomiting may occur as a component of ADEM or its accompanying viral prodrome.

Cerebral cortical encephalitis :

The condition known as cerebral cortical encephalitis is a new clinical disease that is recently identified as a MOGAD characteristic. Seizures, aphasia, stroke-like events, headaches, and fever are examples of clinical symptoms <ref name="PMID:28105459.">{{cite journal |vauthors: Ogawa R|title= MOG antibody-positive, benign, unilateral, cerebral cortical encephalitis with epilepsy. Neurol Neuroimmunol Neuroinflamm. 2017 Jan 16;4(2):e322. doi: 10.1212/NXI.0000000000000322.|PMID= 28105459.|url=}}</ref> . Up to 80% of cases are unilateral, with symptoms limited to one hemisphere. Cortical edema, T2 hyperintensity, and leptomeningeal enhancement are also observed radiologically. Reports of T2 hypointensity in the surrounding white matter have also been recorded.

Children :

About half of all MOGAD event cases involve children, who appear to be susceptible to the disease. Positive MOG antibodies have been identified as a frequent finding in first presentations, and around one-third of pediatric acute acquired demyelinating syndromes have MOG-IgG.In the majority of children presenting with MOGAD, the clinical phenotype is that of ADEM, optic neuritis, or a combination of both, followed by transverse myelitis <ref name="PMID:32057303.">{{cite journal |vauthors: Armangue T|title= Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study. Lancet Neurol. 2020 Mar;19(3):234-246. doi: 10.1016/S1474-4422(19)30488-0. Epub 2020 Feb 10. Erratum in: Lancet Neurol. 2020 Apr;19(4):e4. doi: 10.1016/S1474-4422(20)30074-0. |PMID= 32057303..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Investigations]]==

The following imaging and laboratory investigations are part of the initial presentation evaluation for suspected MOGAD:

●MRI, both with and without contrast of any symptomatic neuraxis area, as well as all of the following in the event that the diagnosis is unclear or encephalopathy interferes with the neurologic exam:
•Images with fat saturation and orbits
• Central nervous system
●MOG-IgG serum, examined by a cellular assay (see to 'MOG autoantibody' below)
●CSF analysis for routine studies (e.g., cell count, differential) and oligoclonal bands; polymerase chain reaction (PCR) testing for viral infections in selected patients; testing CSF for NMDA receptor antibodies in selected patients with features suggestive of anti-N-methyl-D-aspartate (NMDA) receptor encephalitis (orofacial dyskinesias, psychosis, seizures).

'''MRI orbits''':

-An MRI of the orbits, both with and without gadolinium contrast, as well as pictures showing fat saturation, commonly known as fat suppression, might provide valuable information for MOGAD. Adult cases of optic neuritis are more prevalent, and orbital MRI is a more sensitive method of diagnosing optic neuritis than brain MRI <ref name="PMID: 26163068.">{{cite journal |vauthors: Ramanathan S|title= Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis. Mult Scler. 2016 Apr;22(4):470-82. doi: 10.1177/1352458515593406. Epub 2015 Jul 10 |PMID= 26163068.|url=}}</ref> .

'''MRI Brain''':

-Many big, fuzzy, poorly defined T2 hyperintensities of the white matter are characteristic of ADEM or ADEM-like presentations of MOGAD. deep gray matter involvement involving either one or both thalamic or basal ganglia T2 hyperintensities are widely known to help differentiate MOGAD from MS, despite the fact that AQP4-IgG NMOSD and these imaging findings overlap <ref name="PMID:30014148Association of MOG-IgG Serostatus With Relapse After Acute Disseminated Encephalomyelitis and Proposed Diagnostic Criteria for MOG-IgG-Associated Disorders. JAMA Neurol. 2018 Nov 1;75(11):1355-1363. doi: 10.1001/jamaneurol.2018.1814. |PMID= 30014148|url=}}</ref"></ref> .

'''MRI of the spinal cord:'''

-Most patients (60 to 100 percent) with MOGAD had longitudinally significant spinal cord lesions on T2-weighted sagittal spine MRI spanning ≥3 vertebral segments. These can appear alone or in conjunction with other short or longitudinally extensive lesions; although solitary short lesions are uncommon, it is nevertheless important to rule out multiple sclerosis (MS), especially if they are peripherally placed or show a ring of enhancement.

'''MOG autoantibody''':

A cell-based assay is used to check for serum MOG-IgG antibody. Patients with classic MOGAD clinical, MRI, and laboratory characteristics as well as those with a CNS demyelinating disease that is not consistent with multiple sclerosis should be tested. Given the possibility of false positive results, clinical judgment is needed both in the patient selection process for MOG-IgG testing as well as in the interpretation of positive data <ref name="PMID:31645473.| author: Mariotto S| title: Relevance of antibodies to myelin oligodendrocyte glycoprotein in CSF of seronegative cases. Neurology. 2019 Nov 12;93(20):e1867-e1872. doi: 10.1212/WNL.0000000000008479. Epub 2019 Oct 23 |PMID= 31645473.|url=}}</ref> <ref name="PMID:31645473..| author:Akaishi T| title: Difference in the Source of Anti-AQP4-IgG and Anti-MOG-IgG Antibodies in CSF in Patients With Neuromyelitis Optica Spectrum Disorder. Neurology. 2021 Jul 6;97(1):e1-e12. doi: 10.1212/WNL.0000000000012175. Epub 2021 May 12. PMID: 33980704; PMCID: PMC8312856.000000008479. Epub 2019 Oct 23. |PMID= 31645473.|url=}}</ref> .

It is not advised to do uniform MOG-IgG testing on individuals who have clinical symptoms and MRI findings indicative of multiple sclerosis.

Given that MOG-IgG is the defining factor for MOGAD, it is imperative that doctors possess a basic understanding of the MOG-IgG test, particularly with regard to the possibility of false positive results at low titer. Here is a summary of some MOG-IgG testing guidelines and common mistakes.

'''Optical coherence tomography (OCT):'''

This is a type of imaging that uses near-infrared light to produce quantitative data on the sizes of the different layers of the retina. Since that optic neuritis is the most prevalent symptom of MOGAD in adult patients, OCT is a valuable diagnostic tool. OCT can measure the degree of previous optic nerve injury, identify previous bouts of optic neuritis, and evaluate the acute characteristics of the condition <ref name="PMID:33832689.| author: Costello F| title: The role of optical coherence tomography in the diagnosis of afferent visual pathway problems: A neuroophthalmic perspective. Handb Clin Neurol. 2021;178:97-113. doi: 10.1016/B978-0-12-821377-3.00007-6. |PMID= 33832689.url=}}</ref> .

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Diagnostic Criteria]]==

The diagnostic criteria that have been proposed for MOGAD necessitate the following <ref name="PMID:36706773| author: Banwell B| title: Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24. |PMID= 36706773| url=}}</ref> :

●A central clinical demyelinating event being present:
•Optic neuritis, as previously mentioned
•Transverse myelitis (see to the section above on this condition)
The disease known as acute disseminated encephalomyelitis (ADEM) (see 'ADEM' above)
•deficiencies that are cerebral, either mono- or polyfocal (see 'Cerebral monofocal or polyfocal deficiencies' above)
•Deficits related to the brainstem or cerebellum (see 'Brainstem and cerebellar characteristics' above)
Brain cortical encephalitis, frequently accompanied by seizures (see to the sections on "Cerebral cortical encephalitis" and "Seizures" above).

●A myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) test that is considered positive when it exhibits the above-described, definite positivity.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Treatment]]==

'''MEDICAL CARE'''

Treatment for acute attacks and techniques for preventing attacks can be used to stratify MOGAD treatment <ref name="PMID:31355308| author: Stiebel-Kalish H| title: Does time equal vision in the acute treatment of a cohort of AQP4 and MOG optic neuritis? Neurol Neuroimmunol Neuroinflamm. 2019 May 21;6(4):e572. doi: 10.1212/NXI.0000000000000572. |PMID= 31355308| url=}}</ref> .

Treatment for acute attacks: Since MOGAD acute episodes are often severe, nearly all of them are handled. It is a good idea to begin acute therapy as soon as possible since some research suggests that administering glucocorticoids early in acute assaults may avoid long-term harm.

●'''High-dose glucocorticoids:''' For five days in a row, we advise starting therapy with high-dose intravenous (IV) methylprednisolone (1000 mg for adults, 20 to 30 mg/kg daily for children). This is supported by research on idiopathic optic neuritis and multiple sclerosis (MS), and it is in line with expert panel guidelines.

==Diagnosis==
[[Myelin oligodendrocyte glycoprotein antibody-associated disease history and symptoms|History and Symptoms]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease physical examination|Physical Examination]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease laboratory findings|Laboratory Findings]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease electrocardiogram|Electrocardiogram]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease x ray|X Ray]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease CT|CT]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease MRI|MRI]] | [[Myelin oligodendrocyte

Myelin oligodendrocyte glycoprotein antibody-associated disease

2024-07-21T06:32:03Z

Rithish Nimmagadda: Created page with "__NOTOC__ {{Myelin oligodendrocyte glycoprotein antibody-associated disease}} {{CMG}};Associate Editor(s)-in-Chief: {{VSRN}} '''''Synonyms and Keywords:''''' encephalomyelitis; Autoimmune demyelinating disease of central nervous system ==Overview== An inflammatory condition of the central nervous system, myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) i..."

__NOTOC__
{{Myelin oligodendrocyte glycoprotein antibody-associated disease}}
{{CMG}};Associate Editor(s)-in-Chief: {{VSRN}}
'''''Synonyms and Keywords:''''' [[encephalomyelitis]]; [[Autoimmune]] [[demyelinating disease]] of [[central nervous system]]

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease overview|Overview]]==

An inflammatory condition of the central nervous system, myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is characterized by immune-mediated demyelination assaults that mostly affect the brain, spinal cord, and optic nerves. Children are particularly vulnerable to this condition.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease historical perspective|Historical Perspective]]==

A protein on the surface of oligodendrocytes called myelin oligodendrocyte glycoprotein (MOG) was previously thought to be a possible target for antibodies in multiple sclerosis (MS), although preliminary research was equivocal. A significant development was the association of MOG-immunoglobulin G (IgG) with a distinct demyelinating illness in 2007. In a research utilizing MOG self-antigen tetramers found by radioimmunoassay, MOG antibodies were infrequently found in adult MS patients but were present in a subgroup of individuals with acute disseminated encephalomyelitis (ADEM).

However,With the development of newer generation cell-based tests, the MOGAD phenotype became more defined, and patients were now identified as having bouts of optic neuritis, ADEM, transverse myelitis, or other signs of the central nervous system (CNS), either alone or in combination. Distinguishing MOGAD from MS and aquaporin-4-IgG seropositive neuromyelitis optica spectrum disease (AQP4-IgG NMOSD) involved both shared and significant distinctions in terms of clinical, radiographic, and cerebrospinal fluid characteristics. As a result, MOGAD is now recognized as a unique CNS demyelinating illness.<ref name="PMID: 17237795.">{{cite journal |vauthors O'Connor KC |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein. Nat Med. 2007 Feb;13(2):211-7. doi: 10.1038/nm1488. Epub 2007 Jan 12. |PMID=17278121..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease pathophysiology|Pathophysiology]]==

The discovery of a disease-specific serum immunoglobulin G (IgG) antibody that selectively binds myelin oligodendrocyte glycoprotein (MOG) has led to increased understanding of a diverse spectrum of disorders, which are now termed MOGAD. Overall, the pathologic features support an antibody-mediated central nervous system (CNS) demyelinating disease distinct from multiple sclerosis (MS).

The majority of human pathology investigations on MOGAD have concentrated on the brain lesions seen during biopsy or autopsy, which has shed some light on the disease's pathophysiology. Perivenous and confluent demyelination have been shown to coexist in these investigations. Intracortical demyelinating lesions are more common than cortical demyelinating lesions. In one case series, selective MOG loss was found, but not in another. It is different from MS in that there is usually a CD4-positive T cell inflammatory response with granulocytic inflammation rather than a CD8-positive predominant infiltration. Additionally noticed is complement deposition, and reports have indicated an overlap with pattern II MS pathology.<ref name="PMID:32048003.">{{cite journal |vauthors Höftberger R |title=TSelf-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein.The pathology of central nervous system inflammatory demyelinating disease accompanying myelin oligodendrocyte glycoprotein autoantibody. Acta Neuropathol. 2020 May;139(5):875-892 |PMID=32048003|url=}}</ref> <ref name="PMID:32412053..">{{cite journal |vauthors Takai Y |title= Japan MOG-antibody Disease Consortium. Myelin oligodendrocyte glycoprotein antibody-associated disease: an immunopathological study. Brain. 2020 May 1;143(5):1431-1446. |PMID=32412053.|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease epidemiology and demographics|Epidemiology and Demographics]]==
[[Category:Neurology]]

Because myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) was just identified in 2007 and broad testing was not accessible for several years to a decade later, the epidemiology data for MOGAD are limited. As a result, the prevalence of MOGAD may have been overstated in early epidemiological data. Although research conducted in Europe imply that the incidence of MOGAD is between 1.6 and 3.4 per 1,000,000 person-years, the prevalence and incidence remain mostly unknown.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease |CLINICAL FEATURES ]]==

assaults that are extremely distinctive — Although none of the clinical characteristics of MOGAD are unique to the condition, several are. Among these are severe episodes of:

optic Neuritis:

● Optic neuritis, either unilateral or bilateral, causing profound vision loss
●Acute disseminated encephalomyelitis (ADEM), presenting with localized neurologic abnormalities, transverse myelitis characteristics, and impaired mental status
●Transverse myelitis, which frequently results in sensory loss, limb weakness, and problems with the bowel, bladder, or sex
MOGAD may progress in a relapsing or monophasic manner.

Attacks often take days to develop, peak, and then recover in different ways over the course of weeks or months. Attacks might be preceded by a vaccine or an infectious disease.<ref name="PMID: 29136091">{{cite journal |vauthors Jurynczyk M |title= Clinical presentation and prognosis in MOG-antibody disease: a UK study. Brain. 2017 Dec 1;140(12):3128-3138. doi: 10.1093/brain/awx276. Erratum in: Brain. 2018 Apr 1;141(4):e31. |PMID= 29136091.|url=}}</ref> <ref name="PMID:30055153">{{cite journal |vauthors Chen JJ |title= Myelin Oligodendrocyte Glycoprotein Antibody-Positive Optic Neuritis: Clinical Characteristics, Radiologic Clues, and Outcome. Am J Ophthalmol. 2018 Nov;195:8-15. doi: 10.1016/j.ajo.2018.07.020. Epub 2018 Jul 26. |PMID= 30055153|url=}}</ref>

There might be further involvement of the central nervous system (CNS), such as the clinical syndrome of neuromyelitis optica spectrum disease (NMOSD) in which there is no detectable level of aquaporin-4-immunoglobulin G (AQP4-IgG). The latter is typified by optic neuritis and transverse myelitis in any combination, occasionally with involvement of other CNS areas. Unilateral cerebral cortical encephalitis, which can cause seizures, headaches, and other focal neurologic symptoms, is another symptom that patients with MOGAD may exhibit. Although the brainstem can also be affected, this usually happens in conjunction with more extensive ADEM rather than on its own.

Any inflammatory illness or an idiopathic cause can result in optic neuritis, or inflammation of the optic nerve. While there are certain clinical signs that may indicate MOGAD, the hallmarks of optic neuritis in MOGAD are similar to those of multiple sclerosis and AQP4-IgG NMOSD. All forms of optic neuritis commonly generate pain with eye movement, and in most MOGAD instances, this occurs before to vision loss. Once more, in pediatric patients, this may be characterized as a headache, and in young children, making a precise differentiation may be difficult. With a median visual acuity at nadir of counting fingers, vision loss is usually central and severe (more severe in MOGAD than in multiple sclerosis [MS], but equivalent in severity to AQP4-IgG NMOSD).

Transverse myelitis:

This condition is characterized by inflammation across the spinal cord parenchyma, which results in neurologic impairment. It can progress over several hours or days, peaking within 21 days. This is a quick review of transverse myelitis, which is covered in more depth elsewhere.<ref name="PMID:12236201">{{cite journal |vauthors |title= Transverse Myelitis Consortium Working Group. Proposed diagnostic criteria and nosology of acute transverse myelitis. Neurology. 2002 Aug 27;59(4):499-505.|PMID= 12236201|url=}}</ref>

When a person has MOGAD, their spinal cord may be affected alone or in combination with other parts of their brain.
A sensory level throughout the trunk and a subacute start of paraparesis or quadriparesis with loss of feeling below the lesion are among the symptoms. In addition to erectile dysfunction in men, neurogenic bowel and bladder disorders are widespread, potentially due to frequent involvement of the conus<ref name="PMID:30575890">{{cite journal |vauthors:Dubey D |title= Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody. JAMA Neurol. 2019 Mar 1;76(3):301-309. doi: 10.1001/jamaneurol.2018.4053. |PMID= 30575890|url=}}</ref>

AQP4-IgG-seronegative NMOSD:

Given that MOGAD has been linked to both optic neuritis and LETM, it is not unexpected that between one-third and half of individuals with the clinical syndrome of NMOSD do not have aquaporin-4-IgG identified. Nevertheless, only 20 to 30 percent of MOGAD patients will meet the requirements for AQP4-IgG seronegative NMOSD, indicating the necessity for MOGAD to have its own unique set of diagnostic standards.<ref name="PMID:31596489">{{cite journal |vauthors: Mariano R |title= Comparison of Clinical Outcomes of Transverse Myelitis Among Adults With Myelin Oligodendrocyte Glycoprotein Antibody vs Aquaporin-4 Antibody Disease. JAMA Netw Open. 2019 Oct 2;2(10):e1912732. doi: 10.1001/jamanetworkopen.2019.12732. doi: 10.1001/jamaneurol.2018.4053. |PMID= 31596489|url=}}</ref>

ADEM:

A initial polyfocal CNS episode from suspected demyelination, accompanied by encephalopathy not explained by fever, systemic disease, or postictal characteristics, characterizes this clinical condition. Large, poorly defined white matter lesions, either with or without gray matter lesions, are required MRI abnormalities.
While ADEM is often monophasic, a small percentage of individuals have relapsing illness defined as multiphasic ADEM, which is characterized by numerous independent ADEM attacks; traditionally, many of these people may have had MOGAD. Thirty to fifty percent of ADEM patients have myelin oligodendrocyte glycoprotein (MOG)-IgG, and its presence may indicate a greater risk of recurrence <ref name="PMID:23572237.">{{cite journal |vauthors: Krupp LB |title= International Pediatric Multiple Sclerosis Study Group. International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions. Mult Scler. 2013 Sep;19(10):1261-7. doi: 10.1177/1352458513484547. Epub 2013 Apr 9. |PMID= 23572237.|url=}}</ref>.

other cerebral monofocal or polyfocal defects:

Neurologic abnormalities associated with MOGAD can manifest as either monofocal or polyfocal deficits, and they can progress over many hours to days. The middle cerebellar peduncle, periventricular (fourth ventricle area), supratentorial white matter, juxtacortical, cortical, and/or deep gray nuclei are the usual locations of demyelinating brain lesions that cause them. On T2-weighted MRI sequences, these lesions are hyperintense; they may or may not enhance with gadolinium. Keep in mind that periventricular lesions are less frequent in multiple sclerosis patients <ref name="PMID:36706773.">{{cite journal |vauthors: Banwell B |title= Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24.|PMID= 36706773.|url=}}</ref>.

Brainstem and cerebellar features:

Compared to multiple sclerosis, isolated brainstem attacks associated with MOGAD are less prevalent. These areas are often affected as part of a multifocal CNS demyelinating onslaught that also affects other brain, optic nerve, and/or spinal cord regions. Clinical accompaniments most frequently seen include ataxia and diplopia. It is uncommon to experience a unique region postrema syndrome typical of AQP4-IgG NMOSD with isolated persistent nausea, vomiting, and hiccups, but nausea and vomiting may occur as a component of ADEM or its accompanying viral prodrome.

Cerebral cortical encephalitis :

The condition known as cerebral cortical encephalitis is a new clinical disease that is recently identified as a MOGAD characteristic. Seizures, aphasia, stroke-like events, headaches, and fever are examples of clinical symptoms <ref name="PMID:28105459.">{{cite journal |vauthors: Ogawa R|title= MOG antibody-positive, benign, unilateral, cerebral cortical encephalitis with epilepsy. Neurol Neuroimmunol Neuroinflamm. 2017 Jan 16;4(2):e322. doi: 10.1212/NXI.0000000000000322.|PMID= 28105459.|url=}}</ref> . Up to 80% of cases are unilateral, with symptoms limited to one hemisphere. Cortical edema, T2 hyperintensity, and leptomeningeal enhancement are also observed radiologically. Reports of T2 hypointensity in the surrounding white matter have also been recorded.

Children :

About half of all MOGAD event cases involve children, who appear to be susceptible to the disease. Positive MOG antibodies have been identified as a frequent finding in first presentations, and around one-third of pediatric acute acquired demyelinating syndromes have MOG-IgG.In the majority of children presenting with MOGAD, the clinical phenotype is that of ADEM, optic neuritis, or a combination of both, followed by transverse myelitis <ref name="PMID:32057303.">{{cite journal |vauthors: Armangue T|title= Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study. Lancet Neurol. 2020 Mar;19(3):234-246. doi: 10.1016/S1474-4422(19)30488-0. Epub 2020 Feb 10. Erratum in: Lancet Neurol. 2020 Apr;19(4):e4. doi: 10.1016/S1474-4422(20)30074-0. |PMID= 32057303..|url=}}</ref>

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Investigations]]==

The following imaging and laboratory investigations are part of the initial presentation evaluation for suspected MOGAD:

●MRI, both with and without contrast of any symptomatic neuraxis area, as well as all of the following in the event that the diagnosis is unclear or encephalopathy interferes with the neurologic exam:
•Images with fat saturation and orbits
• Central nervous system
●MOG-IgG serum, examined by a cellular assay (see to 'MOG autoantibody' below)
●CSF analysis for routine studies (e.g., cell count, differential) and oligoclonal bands; polymerase chain reaction (PCR) testing for viral infections in selected patients; testing CSF for NMDA receptor antibodies in selected patients with features suggestive of anti-N-methyl-D-aspartate (NMDA) receptor encephalitis (orofacial dyskinesias, psychosis, seizures).

MRI orbits: An MRI of the orbits, both with and without gadolinium contrast, as well as pictures showing fat saturation, commonly known as fat suppression, might provide valuable information for MOGAD. Adult cases of optic neuritis are more prevalent, and orbital MRI is a more sensitive method of diagnosing optic neuritis than brain MRI <ref name="PMID: 26163068.">{{cite journal |vauthors: Ramanathan S|title= Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis. Mult Scler. 2016 Apr;22(4):470-82. doi: 10.1177/1352458515593406. Epub 2015 Jul 10 |PMID= 26163068.|url=}}</ref> .

MRI Brain:

●Many big, fuzzy, poorly defined T2 hyperintensities of the white matter are characteristic of ADEM or ADEM-like presentations of MOGAD. deep gray matter involvement involving either one or both thalamic or basal ganglia T2 hyperintensities are widely known to help differentiate MOGAD from MS, despite the fact that AQP4-IgG NMOSD and these imaging findings overlap <ref name="PMID:30014148Association of MOG-IgG Serostatus With Relapse After Acute Disseminated Encephalomyelitis and Proposed Diagnostic Criteria for MOG-IgG-Associated Disorders. JAMA Neurol. 2018 Nov 1;75(11):1355-1363. doi: 10.1001/jamaneurol.2018.1814. |PMID= 30014148|url=}}</ref> .

MRI of the spinal cord:

●Most patients (60 to 100 percent) with MOGAD had longitudinally significant spinal cord lesions on T2-weighted sagittal spine MRI spanning ≥3 vertebral segments. These can appear alone or in conjunction with other short or longitudinally extensive lesions; although solitary short lesions are uncommon, it is nevertheless important to rule out multiple sclerosis (MS), especially if they are peripherally placed or show a ring of enhancement.

MOG autoantibody:

A cell-based assay is used to check for serum MOG-IgG antibody. Patients with classic MOGAD clinical, MRI, and laboratory characteristics as well as those with a CNS demyelinating disease that is not consistent with multiple sclerosis should be tested. Given the possibility of false positive results, clinical judgment is needed both in the patient selection process for MOG-IgG testing as well as in the interpretation of positive data <ref name="PMID:31645473.| author: Mariotto S| title: Relevance of antibodies to myelin oligodendrocyte glycoprotein in CSF of seronegative cases. Neurology. 2019 Nov 12;93(20):e1867-e1872. doi: 10.1212/WNL.0000000000008479. Epub 2019 Oct 23 |PMID= 31645473.|url=}}</ref> <ref name="PMID:31645473..| author:Akaishi T| title: Difference in the Source of Anti-AQP4-IgG and Anti-MOG-IgG Antibodies in CSF in Patients With Neuromyelitis Optica Spectrum Disorder. Neurology. 2021 Jul 6;97(1):e1-e12. doi: 10.1212/WNL.0000000000012175. Epub 2021 May 12. PMID: 33980704; PMCID: PMC8312856.000000008479. Epub 2019 Oct 23. |PMID= 31645473.|url=}}</ref> .

It is not advised to do uniform MOG-IgG testing on individuals who have clinical symptoms and MRI findings indicative of multiple sclerosis.

Given that MOG-IgG is the defining factor for MOGAD, it is imperative that doctors possess a basic understanding of the MOG-IgG test, particularly with regard to the possibility of false positive results at low titer. Here is a summary of some MOG-IgG testing guidelines and common mistakes.

Optical coherence tomography (OCT):

This is a type of imaging that uses near-infrared light to produce quantitative data on the sizes of the different layers of the retina. Since that optic neuritis is the most prevalent symptom of MOGAD in adult patients, OCT is a valuable diagnostic tool. OCT can measure the degree of previous optic nerve injury, identify previous bouts of optic neuritis, and evaluate the acute characteristics of the condition <ref name="PMID:33832689.| author: Costello F| title: The role of optical coherence tomography in the diagnosis of afferent visual pathway problems: A neuroophthalmic perspective. Handb Clin Neurol. 2021;178:97-113. doi: 10.1016/B978-0-12-821377-3.00007-6. |PMID= 33832689.url=}}</ref> .

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Diagnostic Criteria]]==

The diagnostic criteria that have been proposed for MOGAD necessitate the following <ref name="PMID:36706773| author: Banwell B| title: Diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease: International MOGAD Panel proposed criteria. Lancet Neurol. 2023 Mar;22(3):268-282. doi: 10.1016/S1474-4422(22)00431-8. Epub 2023 Jan 24. |PMID= 36706773| url=}}</ref> :

●A central clinical demyelinating event being present:
•Optic neuritis, as previously mentioned
•Transverse myelitis (see to the section above on this condition)
The disease known as acute disseminated encephalomyelitis (ADEM) (see 'ADEM' above)
•deficiencies that are cerebral, either mono- or polyfocal (see 'Cerebral monofocal or polyfocal deficiencies' above)
•Deficits related to the brainstem or cerebellum (see 'Brainstem and cerebellar characteristics' above)
Brain cortical encephalitis, frequently accompanied by seizures (see to the sections on "Cerebral cortical encephalitis" and "Seizures" above).

●A myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG) test that is considered positive when it exhibits the above-described, definite positivity.

==[[Myelin oligodendrocyte glycoprotein antibody-associated disease|Treatment]]==

MEDICAL CARE

Treatment for acute attacks and techniques for preventing attacks can be used to stratify MOGAD treatment <ref name="PMID:31355308| author: Stiebel-Kalish H| title: Does time equal vision in the acute treatment of a cohort of AQP4 and MOG optic neuritis? Neurol Neuroimmunol Neuroinflamm. 2019 May 21;6(4):e572. doi: 10.1212/NXI.0000000000000572. |PMID= 31355308| url=}}</ref> .

Treatment for acute attacks: Since MOGAD acute episodes are often severe, nearly all of them are handled. It is a good idea to begin acute therapy as soon as possible since some research suggests that administering glucocorticoids early in acute assaults may avoid long-term harm.

●High-dose glucocorticoids: For five days in a row, we advise starting therapy with high-dose intravenous (IV) methylprednisolone (1000 mg for adults, 20 to 30 mg/kg daily for children). This is supported by research on idiopathic optic neuritis and multiple sclerosis (MS), and it is in line with expert panel guidelines.

==Diagnosis==
[[Myelin oligodendrocyte glycoprotein antibody-associated disease history and symptoms|History and Symptoms]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease physical examination|Physical Examination]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease laboratory findings|Laboratory Findings]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease electrocardiogram|Electrocardiogram]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease x ray|X Ray]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease CT|CT]] | [[Myelin oligodendrocyte glycoprotein antibody-associated disease MRI|MRI]] | [[Myelin oligodendrocyte

User:Rithish Nimmagadda

2024-07-12T09:00:25Z

Rithish Nimmagadda: /* Pages Authored */

<nowiki>
__NOTOC__
==Your Name==
''' Rithish Nimmagadda,MBBS

Research scholar
 Contact:945-278-1660 
Email: rithishnvs@gmail.com [mailto:rithishnvs@gmail.com] 

==Current Position==
* research scholar (list chapters here) 

==Education==
Medical Degree from Kamineni Academy of Medical sciences and research centre , Hyderabad , India

==Pages Authored==

<div style="-moz-column-count:8; column-count:2;">

#[[Epcoritamab-bysp]]
#[[Elfabrio]]
#[[Mirikizumab-mrkz]]
#[[Bimekizumab]]
#[[Lotilaner]]
#[[Quizartinib]]
#[[Ritlecitinib]]
#[[Tofersen]]
#[[Retifanlimab-dlwr]]
#[[Velmanase alfa-tycv]]
#[[Elacestrant]]
#[[Pirtobrutinib]]
#[[vonoprazan, amoxicillin, and clarithromycin]]
#[[Iptacopa]]
#[[GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME]]
#[[Rumination disorder]]
#[[Birt-Hogg-Dubé syndrome]]
#[[Ischemic hepatitis]]
#[[Diffuse intrinsic pontine glioma]]

==Pages Co-authored/Collaborated==

#[[Eosinophilic esophagitis medical therapy]]
#[[Migraine]]
#[[Cardiac amyloidosis]]
#[[Aspergillosis]]

Diffuse intrinsic pontine glioma

2024-07-12T09:00:01Z

Rithish Nimmagadda:

__NOTOC__
{{ Diffuse intrinsic pontine glioma}}

{{CMG}}; Associate Editor(s)-in-Chief: {{VSRN}}
==[[ Diffuse intrinsic pontine gliomaoverview|INTRODUCTION]]==

The biologic nature of brainstem gliomas varies widely; these tumors might be low-grade and require minimal therapy, or they can be swiftly deadly even with vigorous therapy. The location of the tumor within the brainstem, the length of the clinical symptoms, and, increasingly, the mutational profile all affect the prognosis and course of treatment.<ref name="PMID:11723378.">{{cite journal |vauthors Guillamo JS|title= . Brain stem gliomas |PMID= 11723378|url=}}</ref> Histologically, these tumors are often glioblastomas (WHO grade 4) or astrocytomas (WHO grade 3; anaplastic). However, the prognosis is not better for individuals whose biopsy revealed WHO grade 2 malignancies.<ref name="PMID: 8817612.">{{cite journal |vauthors Epstein F|title= Practical decisions in the treatment of pediatric brain stem tumors |PMID= 8817612|url=}}</ref>High grade nonpontine gliomas, which are treated similarly to diffuse intrinsic pontine gliomas, make up around 10 to 20 percent of all nonpontine gliomas.

==[[ Diffuse intrinsic pontine gliomahistorical perspective|EPIDEMIOLOGY]]==

About one-third of all pediatric high-grade gliomas and 10 to 20 percent of all pediatric central nervous system cancers are brainstem (midbrain, pons, and medulla oblongata) gliomas. Compared to adults, children are more likely to have brainstem gliomas. For instance, about 300 pediatric cases and 100 adult cases are recorded annually in the United States. Five to nine years old is the median age for diagnosis in children, with a slight female sex preponderance.<ref name="PMID:33346835.">{{cite journal |vauthors Patil N|title= Epidemiology of brainstem high-grade gliomas in children and adolescents in the United States, 2000-2017. |PMID= 33346835|url=}}</ref>

==[[ Diffuse intrinsic pontine gliomapathophysiology|Pathophysiology]]==

Diffuse intrinsic pontine gliomas are almost always high-grade astrocytomas when biopsied, while up to 25% may show low grade on traditional histologic characteristics. The majority of the tumors also develop quickly. Significantly, in diffuse intrinsic pontine gliomas, histopathologic grade is not correlated with prognosis; in fact, even low-grade diffuse pontine lesions behave aggressively and have a prognosis that is comparable to that of high-grade tumors.Seldom have pons glial tumors spread to distant locations at the time of diagnosis. Rather, they usually go down well-established fiber networks, particularly into the cerebellum and thalamus. Although spinal seeding is uncommon, it might be seen as the illness progresses.<ref name="PMID: 16983574..">{{cite journal |vauthors Singh S|title= Leptomeninges as a site of relapse in locally controlled, diffuse pontine glioma with review of literature, 2000-2017. |PMID= 16983574.|url=}}</ref>

MOLECULAR LEVEL-

1.Nearly 80 percent of diffuse intrinsic pontine gliomas contain mutually exclusive mutations in either HIST3H1B, one of many genes encoding histone H3.1, or H3F3A, one of two genes expressing the histone H3.3 variation. These mutations appear to be present in all tumor cells. Both mutations change the binding of mutant histone H3 to polycomb repressive complex 2 (PRC2), a crucial developmental regulator of gene expression, by substituting methionine for lysine 27 (H3 K27M).<ref name="PMID: 26727948.">{{cite journal |vauthors Hoffman LM|title= Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics., 2000-2017. |PMID= 26727948|url=}}</ref>

2.Platelet-derived growth factor receptor (PDGFR) A and c-Met protein overexpression and amplification appear to be key molecular steps in the transition of cells to a malignant phenotype, more frequently observed in tumors with the H3.3 mutation. About 15% of diffuse intrinsic pontine gliomas have activating mutations in phosphatidylinositol 3-kinase (PI3K). <ref name="PMID: 22389665.">{{cite journal |vauthors Puget S|title= SMesenchymal transition and PDGFRA amplification/mutation are key distinct oncogenic events in pediatric diffuse intrinsic pontine gliomas. 2000-2017. |PMID= 22389665|url=}}</ref>

3.Pediatric diffuse intrinsic pontine gliomas are exceedingly unusual to have mutations in isocitrate dehydrogenase type 1 (IDH1) or type 2 (IDH2), which characterizes a significant fraction of adult grade 2 and 3 diffuse gliomas.<ref name="PMID:26297251.">{{cite journal |vauthors Feng J|title= The H3.3 K27M mutation results in a poorer prognosis in brainstem gliomas than thalamic gliomas in adults. 2000-2017. |PMID=26297251|url=}}</ref> On the other hand, up to 25% of adult brainstem gliomas may have IDH1/2 mutations, the majority of which are non-R132H variations. These mutations are linked to a better prognosis and may benefit from adjuvant chemotherapy in addition to radiation therapy.

==[[ Diffuse intrinsic pontine gliomacauses|CLINICAL FEATURES]]==
Depending on the location of tumour the clinical features change accordingly.There are very few pathognomonic features pertaining to there syndrome .

-In more than 50% of cases, there are ataxia, cranial nerve palsies, and long tract symptoms including hemiparesis. Although III, IV, IX, and X may also be impacted, cranial nerves VI and VII are most frequently afflicted.

-Less than 10% of patients had hydrocephalus with high intracranial pressure (ICP) upon presentation.

-While little punctate hemorrhages might be observed in a large number of instances, significant intratumoral hemorrhage can be present in around 6% of patients at the time of diagnosis.

Usually manifesting within three months, diffuse intrinsic pontine gliomas have longer-lasting symptoms than focal brainstem gliomas. For brainstem tumors, the length of symptoms in relation to traditional radiography findings is a significant prognostic factor. Individuals who have had their symptoms for more than six months at the time of diagnosis often do considerably better than those who have had them for less time.

==[[ Diffuse intrinsic pontine glioma|Diagnosis]]==

IMAGING

Imaging tests are the gold standard for brainstem tumor identification and classification. MRIs and, less commonly, computed tomography (CT) are the most commonly used imaging techniques.Diffuse intrinsic pontine gliomas have a typical appearance on CT scans with hypodense to isodense appearance and variable contrast enhancement. Calcium is rarely identified within the tumor. MRI is superior to CT for defining these lesions. On MRI, diffuse pontine lesions are expansile, typically hypointense on T1- and hyperintense on T2-weighted images

High-grade tumors usually spread to nearby regions, such as the midbrain or medulla. Typically, axial development is seen through the cerebellar peduncles and into the cerebellum; malignancies enlarge the pons rather than moving it. They often surround the basilar artery and include exophytic components into the prepontine cistern. The tumors seem to respect the pontomedullary border on sagittal imaging.

The tumors' internal contrast enhancement might vary, sometimes ring-enhancing with centrally located necrosis. When ring-enhancing lesions seem well-circumscribed on MRI, this does not always mean the lesion is lower grade or has a more benign clinical history; this is sometimes not verified at the time of surgery or autopsy. There is hardly any contrast enhancement for diffuse pontine lesions. Diffuse uniform enhancement tumors are generally linked with longer symptoms, are more likely to be low grade tumors, and may present with a better prognosis.While MRI has become the standard method of evaluation of diffuse intrinsic pontine gliomas, the heterogeneous signal characteristics of these lesions and interobserver variability make serial assessment difficult<ref name="PMID:18587536.">{{cite journal |vauthors Hayward RM|title= Inter-observer variability in the measurement of diffuse intrinsic pontine gliomas.. 2000-2017. |PMID=18587536|url=}}</ref>

==[[ Diffuse intrinsic pontine glioma|Differential Diagnosis]]==

The most prevalent causes of nonneoplastic lesions in the brainstem include vascular malformations, encephalitis, uncommon parasite cysts, demyelinating illnesses (e.g., multiple sclerosis), and hamartomas in individuals with neurofibromatosis. There have also been isolated reports of adult extracranial carcinoma metastases in the pons.

==[[ Diffuse intrinsic pontine glioma|Treatment]]==

Treatment for a patient with a diffuse intrinsic pontine glioma consists of targeted tumor-specific interventions (chemotherapy, radiation treatment, and surgery) in addition to managing peritumoral edema. It is recommended that individuals take part in clinical trials, especially as the molecular pathophysiology of these cancers becomes clearer and targeted medicines start to be tested in humans.

'''Glucocorticoids''': Giving patients with high-grade brainstem tumors glucocorticoids (such as dexamethasone) is a crucial first step in their therapy. Often a major factor in symptoms, peripheral edema can quickly reduce with steroid treatment. Steroids do not cure the underlying issue, but they can enhance clinical outcomes, which can have a significant impact on patients with short life expectancies and their quality of life.Regrettably, a considerable number of individuals necessitate extended dexamethasone treatment, leading to noteworthy problems associated with steroids. A monoclonal antibody called bevacizumab that blocks vascular endothelial growth factor (VEGF) has occasionally been used to control peritumoral edema without the negative effects of glucocorticoids.<ref name="PMID:19857784.">{{cite journal |vauthors Liu AK|title= Bevacizumab as therapy for radiation necrosis in four children with pontine gliomas. 2009 . |PMID=19857784|url=}}</ref>

'''Surgery''': Outside of official clinical trials, surgery is generally not advised for children with a clinical diagnosis of diffuse brainstem glioma unless the clinical or imaging picture is unusual [54]. Routine biopsy is not able to detect people with lesions that are not high-grade astrocytomas because of the morbidity associated with surgery in this expressive region of the brain and the sampling error associated with biopsies.<ref name="PMID:16506498.">{{cite journal |vauthors Pincus DW|title=Brainstem stereotactic biopsy sampling in children.2006. |PMID=16506498.|url=}}</ref>

A biopsy is more likely to be beneficial for adults. In this situation, as with IDH-mutant gliomas, establishing the tissue diagnosis may help prognostication and guide therapy. Furthermore, in investigations conducted both before and after the availability of MRI, up to 30 percent of biopsied patients had a diagnosis other than astrocytoma (such as lymphoma, ependymoma, or infection)<ref name="PMID:22937929.">{{cite journal |vauthors Dellaretti M|title=Diffuse brainstem glioma: prognostic factors. J Neurosurg. 2012 Nov;117(5):810-4. |PMID=22937929.|url=}}</ref>

'''Radiation Therapy''': The only treatment that seems to change the clinical course of diffuse intrinsic pontine gliomas is radiation therapy. None of the modifications—dosage escalation, modified fractionation, and radiosensitization—have shown to be more successful than radiation treatment administered normally, despite several studies.

Treatment areas for radiation therapy are usually limited to the volume of the tumor plus 1 to 2 cm of surrounding brainstem tissue. 1.8 Gy is the typical therapy dosage, administered five days a week, for a total dose of 54–59.4 Gy. Individuals experiencing severe symptoms might need to start radiation therapy right once.

Radiation treatment can cause a significant amount of tumor shrinking, but the effects are usually temporary, and patients cannot be cured with this method.

'''Chemotherapy''': Children with diffuse intrinsic pontine gliomas have not responded well to chemotherapy. Many therapeutic approaches have been attempted in adults and children, including single chemotherapy drugs, multiple combination regimens, and high-dose therapy with stem cell rescue, but none have shown any conclusive benefits.<ref name="PMID:17278121.">{{cite journal |vauthors Korones DN |title=Treatment of children with diffuse intrinsic brain stem glioma with radiotherapy, vincristine and oral VP-16: a Children's Oncology Group phase II study. Pediatr Blood Cancer. 2008 Feb;50(2):227-30. |PMID=17278121..|url=}}</ref>
While most adult patients with high-grade gliomas now receive [[temozolomide]] as part of their standard therapy, testing in conjunction with radiation for recently diagnosed diffuse intrinsic pontine gliomas has not shown any improvement in activity when compared to radiation alone, and it is linked to a higher risk of toxicity and
side effects.

==[[ Diffuse intrinsic pontine glioma|Prognosis]]==

The prognosis of diffuse intrinsic pontine glioma is poor, with a median overall survival of 10 to 11 months. Five-year survival is less than 3 percent, and many long-term survivors have evidence of moderate or severe cognitive impairment, likely as a consequence of radiation therapy

Diffuse intrinsic pontine glioma

2024-07-12T08:58:44Z

Rithish Nimmagadda:

__NOTOC__
{{ Diffuse intrinsic pontine glioma}}

{{CMG}}; Associate Editor(s)-in-Chief: {{VSRN}}
==[[ Diffuse intrinsic pontine gliomaoverview|INTRODUCTION]]==

The biologic nature of brainstem gliomas varies widely; these tumors might be low-grade and require minimal therapy, or they can be swiftly deadly even with vigorous therapy. The location of the tumor within the brainstem, the length of the clinical symptoms, and, increasingly, the mutational profile all affect the prognosis and course of treatment.<ref name="PMID:11723378.">{{cite journal |vauthors Guillamo JS|title= . Brain stem gliomas |PMID= 11723378|url=}}</ref> Histologically, these tumors are often glioblastomas (WHO grade 4) or astrocytomas (WHO grade 3; anaplastic). However, the prognosis is not better for individuals whose biopsy revealed WHO grade 2 malignancies.<ref name="PMID: 8817612.">{{cite journal |vauthors Epstein F|title= Practical decisions in the treatment of pediatric brain stem tumors |PMID= 8817612|url=}}</ref>High grade nonpontine gliomas, which are treated similarly to diffuse intrinsic pontine gliomas, make up around 10 to 20 percent of all nonpontine gliomas.

==[[ Diffuse intrinsic pontine gliomahistorical perspective|EPIDEMIOLOGY]]==

About one-third of all pediatric high-grade gliomas and 10 to 20 percent of all pediatric central nervous system cancers are brainstem (midbrain, pons, and medulla oblongata) gliomas. Compared to adults, children are more likely to have brainstem gliomas. For instance, about 300 pediatric cases and 100 adult cases are recorded annually in the United States. Five to nine years old is the median age for diagnosis in children, with a slight female sex preponderance.<ref name="PMID:33346835.">{{cite journal |vauthors Patil N|title= Epidemiology of brainstem high-grade gliomas in children and adolescents in the United States, 2000-2017. |PMID= 33346835|url=}}</ref>

==[[ Diffuse intrinsic pontine gliomapathophysiology|Pathophysiology]]==

Diffuse intrinsic pontine gliomas are almost always high-grade astrocytomas when biopsied, while up to 25% may show low grade on traditional histologic characteristics. The majority of the tumors also develop quickly. Significantly, in diffuse intrinsic pontine gliomas, histopathologic grade is not correlated with prognosis; in fact, even low-grade diffuse pontine lesions behave aggressively and have a prognosis that is comparable to that of high-grade tumors.Seldom have pons glial tumors spread to distant locations at the time of diagnosis. Rather, they usually go down well-established fiber networks, particularly into the cerebellum and thalamus. Although spinal seeding is uncommon, it might be seen as the illness progresses.<ref name="PMID: 16983574..">{{cite journal |vauthors Singh S|title= Leptomeninges as a site of relapse in locally controlled, diffuse pontine glioma with review of literature, 2000-2017. |PMID= 16983574.|url=}}</ref>

MOLECULAR LEVEL-

1.Nearly 80 percent of diffuse intrinsic pontine gliomas contain mutually exclusive mutations in either HIST3H1B, one of many genes encoding histone H3.1, or H3F3A, one of two genes expressing the histone H3.3 variation. These mutations appear to be present in all tumor cells. Both mutations change the binding of mutant histone H3 to polycomb repressive complex 2 (PRC2), a crucial developmental regulator of gene expression, by substituting methionine for lysine 27 (H3 K27M).<ref name="PMID: 26727948.">{{cite journal |vauthors Hoffman LM|title= Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics., 2000-2017. |PMID= 26727948|url=}}</ref>

2.Platelet-derived growth factor receptor (PDGFR) A and c-Met protein overexpression and amplification appear to be key molecular steps in the transition of cells to a malignant phenotype, more frequently observed in tumors with the H3.3 mutation. About 15% of diffuse intrinsic pontine gliomas have activating mutations in phosphatidylinositol 3-kinase (PI3K). <ref name="PMID: 22389665.">{{cite journal |vauthors Puget S|title= SMesenchymal transition and PDGFRA amplification/mutation are key distinct oncogenic events in pediatric diffuse intrinsic pontine gliomas. 2000-2017. |PMID= 22389665|url=}}</ref>

3.Pediatric diffuse intrinsic pontine gliomas are exceedingly unusual to have mutations in isocitrate dehydrogenase type 1 (IDH1) or type 2 (IDH2), which characterizes a significant fraction of adult grade 2 and 3 diffuse gliomas.<ref name="PMID:26297251.">{{cite journal |vauthors Feng J|title= The H3.3 K27M mutation results in a poorer prognosis in brainstem gliomas than thalamic gliomas in adults. 2000-2017. |PMID=26297251|url=}}</ref> On the other hand, up to 25% of adult brainstem gliomas may have IDH1/2 mutations, the majority of which are non-R132H variations. These mutations are linked to a better prognosis and may benefit from adjuvant chemotherapy in addition to radiation therapy.

==[[ Diffuse intrinsic pontine gliomacauses|CLINICAL FEATURES]]==
Depending on the location of tumour the clinical features change accordingly.There are very few pathognomonic features pertaining to there syndrome .

-In more than 50% of cases, there are ataxia, cranial nerve palsies, and long tract symptoms including hemiparesis. Although III, IV, IX, and X may also be impacted, cranial nerves VI and VII are most frequently afflicted.

-Less than 10% of patients had hydrocephalus with high intracranial pressure (ICP) upon presentation.

-While little punctate hemorrhages might be observed in a large number of instances, significant intratumoral hemorrhage can be present in around 6% of patients at the time of diagnosis.

Usually manifesting within three months, diffuse intrinsic pontine gliomas have longer-lasting symptoms than focal brainstem gliomas. For brainstem tumors, the length of symptoms in relation to traditional radiography findings is a significant prognostic factor. Individuals who have had their symptoms for more than six months at the time of diagnosis often do considerably better than those who have had them for less time.

==[[ Diffuse intrinsic pontine glioma|Diagnosis]]==

IMAGING

Imaging tests are the gold standard for brainstem tumor identification and classification. MRIs and, less commonly, computed tomography (CT) are the most commonly used imaging techniques.Diffuse intrinsic pontine gliomas have a typical appearance on CT scans with hypodense to isodense appearance and variable contrast enhancement. Calcium is rarely identified within the tumor. MRI is superior to CT for defining these lesions. On MRI, diffuse pontine lesions are expansile, typically hypointense on T1- and hyperintense on T2-weighted images

High-grade tumors usually spread to nearby regions, such as the midbrain or medulla. Typically, axial development is seen through the cerebellar peduncles and into the cerebellum; malignancies enlarge the pons rather than moving it. They often surround the basilar artery and include exophytic components into the prepontine cistern. The tumors seem to respect the pontomedullary border on sagittal imaging.

The tumors' internal contrast enhancement might vary, sometimes ring-enhancing with centrally located necrosis. When ring-enhancing lesions seem well-circumscribed on MRI, this does not always mean the lesion is lower grade or has a more benign clinical history; this is sometimes not verified at the time of surgery or autopsy. There is hardly any contrast enhancement for diffuse pontine lesions. Diffuse uniform enhancement tumors are generally linked with longer symptoms, are more likely to be low grade tumors, and may present with a better prognosis.While MRI has become the standard method of evaluation of diffuse intrinsic pontine gliomas, the heterogeneous signal characteristics of these lesions and interobserver variability make serial assessment difficult<ref name="PMID:18587536.">{{cite journal |vauthors Hayward RM|title= Inter-observer variability in the measurement of diffuse intrinsic pontine gliomas.. 2000-2017. |PMID=18587536|url=}}</ref>

==[[ Diffuse intrinsic pontine glioma|Differential Diagnosis]]==

The most prevalent causes of nonneoplastic lesions in the brainstem include vascular malformations, encephalitis, uncommon parasite cysts, demyelinating illnesses (e.g., multiple sclerosis), and hamartomas in individuals with neurofibromatosis. There have also been isolated reports of adult extracranial carcinoma metastases in the pons.

==[[ Diffuse intrinsic pontine glioma|Treatment]]==

Treatment for a patient with a diffuse intrinsic pontine glioma consists of targeted tumor-specific interventions (chemotherapy, radiation treatment, and surgery) in addition to managing peritumoral edema. It is recommended that individuals take part in clinical trials, especially as the molecular pathophysiology of these cancers becomes clearer and targeted medicines start to be tested in humans.

Glucocorticoids: Giving patients with high-grade brainstem tumors glucocorticoids (such as dexamethasone) is a crucial first step in their therapy. Often a major factor in symptoms, peripheral edema can quickly reduce with steroid treatment. Steroids do not cure the underlying issue, but they can enhance clinical outcomes, which can have a significant impact on patients with short life expectancies and their quality of life.Regrettably, a considerable number of individuals necessitate extended dexamethasone treatment, leading to noteworthy problems associated with steroids. A monoclonal antibody called bevacizumab that blocks vascular endothelial growth factor (VEGF) has occasionally been used to control peritumoral edema without the negative effects of glucocorticoids.<ref name="PMID:19857784.">{{cite journal |vauthors Liu AK|title= Bevacizumab as therapy for radiation necrosis in four children with pontine gliomas. 2009 . |PMID=19857784|url=}}</ref>

Surgery: Outside of official clinical trials, surgery is generally not advised for children with a clinical diagnosis of diffuse brainstem glioma unless the clinical or imaging picture is unusual [54]. Routine biopsy is not able to detect people with lesions that are not high-grade astrocytomas because of the morbidity associated with surgery in this expressive region of the brain and the sampling error associated with biopsies.<ref name="PMID:16506498.">{{cite journal |vauthors Pincus DW|title=Brainstem stereotactic biopsy sampling in children.2006. |PMID=16506498.|url=}}</ref>

A biopsy is more likely to be beneficial for adults. In this situation, as with IDH-mutant gliomas, establishing the tissue diagnosis may help prognostication and guide therapy. Furthermore, in investigations conducted both before and after the availability of MRI, up to 30 percent of biopsied patients had a diagnosis other than astrocytoma (such as lymphoma, ependymoma, or infection)<ref name="PMID:22937929.">{{cite journal |vauthors Dellaretti M|title=Diffuse brainstem glioma: prognostic factors. J Neurosurg. 2012 Nov;117(5):810-4. |PMID=22937929.|url=}}</ref>

Radiation Therapy: The only treatment that seems to change the clinical course of diffuse intrinsic pontine gliomas is radiation therapy. None of the modifications—dosage escalation, modified fractionation, and radiosensitization—have shown to be more successful than radiation treatment administered normally, despite several studies.

Treatment areas for radiation therapy are usually limited to the volume of the tumor plus 1 to 2 cm of surrounding brainstem tissue. 1.8 Gy is the typical therapy dosage, administered five days a week, for a total dose of 54–59.4 Gy. Individuals experiencing severe symptoms might need to start radiation therapy right once.

Radiation treatment can cause a significant amount of tumor shrinking, but the effects are usually temporary, and patients cannot be cured with this method.

Chemotherapy:Children with diffuse intrinsic pontine gliomas have not responded well to chemotherapy. Many therapeutic approaches have been attempted in adults and children, including single chemotherapy drugs, multiple combination regimens, and high-dose therapy with stem cell rescue, but none have shown any conclusive benefits.<ref name="PMID:17278121.">{{cite journal |vauthors Korones DN |title=Treatment of children with diffuse intrinsic brain stem glioma with radiotherapy, vincristine and oral VP-16: a Children's Oncology Group phase II study. Pediatr Blood Cancer. 2008 Feb;50(2):227-30. |PMID=17278121..|url=}}</ref>
While most adult patients with high-grade gliomas now receive [[temozolomide]] as part of their standard therapy, testing in conjunction with radiation for recently diagnosed diffuse intrinsic pontine gliomas has not shown any improvement in activity when compared to radiation alone, and it is linked to a higher risk of toxicity and
side effects.

==[[ Diffuse intrinsic pontine glioma|Prognosis]]==

The prognosis of diffuse intrinsic pontine glioma is poor, with a median overall survival of 10 to 11 months. Five-year survival is less than 3 percent, and many long-term survivors have evidence of moderate or severe cognitive impairment, likely as a consequence of radiation therapy

Diffuse intrinsic pontine glioma

2024-07-12T08:58:15Z

Rithish Nimmagadda:

__NOTOC__
{{ Diffuse intrinsic pontine glioma}}

{{CMG}}; {{VSRN}}
==[[ Diffuse intrinsic pontine gliomaoverview|INTRODUCTION]]==

The biologic nature of brainstem gliomas varies widely; these tumors might be low-grade and require minimal therapy, or they can be swiftly deadly even with vigorous therapy. The location of the tumor within the brainstem, the length of the clinical symptoms, and, increasingly, the mutational profile all affect the prognosis and course of treatment.<ref name="PMID:11723378.">{{cite journal |vauthors Guillamo JS|title= . Brain stem gliomas |PMID= 11723378|url=}}</ref> Histologically, these tumors are often glioblastomas (WHO grade 4) or astrocytomas (WHO grade 3; anaplastic). However, the prognosis is not better for individuals whose biopsy revealed WHO grade 2 malignancies.<ref name="PMID: 8817612.">{{cite journal |vauthors Epstein F|title= Practical decisions in the treatment of pediatric brain stem tumors |PMID= 8817612|url=}}</ref>High grade nonpontine gliomas, which are treated similarly to diffuse intrinsic pontine gliomas, make up around 10 to 20 percent of all nonpontine gliomas.

==[[ Diffuse intrinsic pontine gliomahistorical perspective|EPIDEMIOLOGY]]==

About one-third of all pediatric high-grade gliomas and 10 to 20 percent of all pediatric central nervous system cancers are brainstem (midbrain, pons, and medulla oblongata) gliomas. Compared to adults, children are more likely to have brainstem gliomas. For instance, about 300 pediatric cases and 100 adult cases are recorded annually in the United States. Five to nine years old is the median age for diagnosis in children, with a slight female sex preponderance.<ref name="PMID:33346835.">{{cite journal |vauthors Patil N|title= Epidemiology of brainstem high-grade gliomas in children and adolescents in the United States, 2000-2017. |PMID= 33346835|url=}}</ref>

==[[ Diffuse intrinsic pontine gliomapathophysiology|Pathophysiology]]==

Diffuse intrinsic pontine gliomas are almost always high-grade astrocytomas when biopsied, while up to 25% may show low grade on traditional histologic characteristics. The majority of the tumors also develop quickly. Significantly, in diffuse intrinsic pontine gliomas, histopathologic grade is not correlated with prognosis; in fact, even low-grade diffuse pontine lesions behave aggressively and have a prognosis that is comparable to that of high-grade tumors.Seldom have pons glial tumors spread to distant locations at the time of diagnosis. Rather, they usually go down well-established fiber networks, particularly into the cerebellum and thalamus. Although spinal seeding is uncommon, it might be seen as the illness progresses.<ref name="PMID: 16983574..">{{cite journal |vauthors Singh S|title= Leptomeninges as a site of relapse in locally controlled, diffuse pontine glioma with review of literature, 2000-2017. |PMID= 16983574.|url=}}</ref>

MOLECULAR LEVEL-

1.Nearly 80 percent of diffuse intrinsic pontine gliomas contain mutually exclusive mutations in either HIST3H1B, one of many genes encoding histone H3.1, or H3F3A, one of two genes expressing the histone H3.3 variation. These mutations appear to be present in all tumor cells. Both mutations change the binding of mutant histone H3 to polycomb repressive complex 2 (PRC2), a crucial developmental regulator of gene expression, by substituting methionine for lysine 27 (H3 K27M).<ref name="PMID: 26727948.">{{cite journal |vauthors Hoffman LM|title= Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics., 2000-2017. |PMID= 26727948|url=}}</ref>

2.Platelet-derived growth factor receptor (PDGFR) A and c-Met protein overexpression and amplification appear to be key molecular steps in the transition of cells to a malignant phenotype, more frequently observed in tumors with the H3.3 mutation. About 15% of diffuse intrinsic pontine gliomas have activating mutations in phosphatidylinositol 3-kinase (PI3K). <ref name="PMID: 22389665.">{{cite journal |vauthors Puget S|title= SMesenchymal transition and PDGFRA amplification/mutation are key distinct oncogenic events in pediatric diffuse intrinsic pontine gliomas. 2000-2017. |PMID= 22389665|url=}}</ref>

3.Pediatric diffuse intrinsic pontine gliomas are exceedingly unusual to have mutations in isocitrate dehydrogenase type 1 (IDH1) or type 2 (IDH2), which characterizes a significant fraction of adult grade 2 and 3 diffuse gliomas.<ref name="PMID:26297251.">{{cite journal |vauthors Feng J|title= The H3.3 K27M mutation results in a poorer prognosis in brainstem gliomas than thalamic gliomas in adults. 2000-2017. |PMID=26297251|url=}}</ref> On the other hand, up to 25% of adult brainstem gliomas may have IDH1/2 mutations, the majority of which are non-R132H variations. These mutations are linked to a better prognosis and may benefit from adjuvant chemotherapy in addition to radiation therapy.

==[[ Diffuse intrinsic pontine gliomacauses|CLINICAL FEATURES]]==
Depending on the location of tumour the clinical features change accordingly.There are very few pathognomonic features pertaining to there syndrome .

-In more than 50% of cases, there are ataxia, cranial nerve palsies, and long tract symptoms including hemiparesis. Although III, IV, IX, and X may also be impacted, cranial nerves VI and VII are most frequently afflicted.

-Less than 10% of patients had hydrocephalus with high intracranial pressure (ICP) upon presentation.

-While little punctate hemorrhages might be observed in a large number of instances, significant intratumoral hemorrhage can be present in around 6% of patients at the time of diagnosis.

Usually manifesting within three months, diffuse intrinsic pontine gliomas have longer-lasting symptoms than focal brainstem gliomas. For brainstem tumors, the length of symptoms in relation to traditional radiography findings is a significant prognostic factor. Individuals who have had their symptoms for more than six months at the time of diagnosis often do considerably better than those who have had them for less time.

==[[ Diffuse intrinsic pontine glioma|Diagnosis]]==

IMAGING

Imaging tests are the gold standard for brainstem tumor identification and classification. MRIs and, less commonly, computed tomography (CT) are the most commonly used imaging techniques.Diffuse intrinsic pontine gliomas have a typical appearance on CT scans with hypodense to isodense appearance and variable contrast enhancement. Calcium is rarely identified within the tumor. MRI is superior to CT for defining these lesions. On MRI, diffuse pontine lesions are expansile, typically hypointense on T1- and hyperintense on T2-weighted images

High-grade tumors usually spread to nearby regions, such as the midbrain or medulla. Typically, axial development is seen through the cerebellar peduncles and into the cerebellum; malignancies enlarge the pons rather than moving it. They often surround the basilar artery and include exophytic components into the prepontine cistern. The tumors seem to respect the pontomedullary border on sagittal imaging.

The tumors' internal contrast enhancement might vary, sometimes ring-enhancing with centrally located necrosis. When ring-enhancing lesions seem well-circumscribed on MRI, this does not always mean the lesion is lower grade or has a more benign clinical history; this is sometimes not verified at the time of surgery or autopsy. There is hardly any contrast enhancement for diffuse pontine lesions. Diffuse uniform enhancement tumors are generally linked with longer symptoms, are more likely to be low grade tumors, and may present with a better prognosis.While MRI has become the standard method of evaluation of diffuse intrinsic pontine gliomas, the heterogeneous signal characteristics of these lesions and interobserver variability make serial assessment difficult<ref name="PMID:18587536.">{{cite journal |vauthors Hayward RM|title= Inter-observer variability in the measurement of diffuse intrinsic pontine gliomas.. 2000-2017. |PMID=18587536|url=}}</ref>

==[[ Diffuse intrinsic pontine glioma|Differential Diagnosis]]==

The most prevalent causes of nonneoplastic lesions in the brainstem include vascular malformations, encephalitis, uncommon parasite cysts, demyelinating illnesses (e.g., multiple sclerosis), and hamartomas in individuals with neurofibromatosis. There have also been isolated reports of adult extracranial carcinoma metastases in the pons.

==[[ Diffuse intrinsic pontine glioma|Treatment]]==

Treatment for a patient with a diffuse intrinsic pontine glioma consists of targeted tumor-specific interventions (chemotherapy, radiation treatment, and surgery) in addition to managing peritumoral edema. It is recommended that individuals take part in clinical trials, especially as the molecular pathophysiology of these cancers becomes clearer and targeted medicines start to be tested in humans.

Glucocorticoids: Giving patients with high-grade brainstem tumors glucocorticoids (such as dexamethasone) is a crucial first step in their therapy. Often a major factor in symptoms, peripheral edema can quickly reduce with steroid treatment. Steroids do not cure the underlying issue, but they can enhance clinical outcomes, which can have a significant impact on patients with short life expectancies and their quality of life.Regrettably, a considerable number of individuals necessitate extended dexamethasone treatment, leading to noteworthy problems associated with steroids. A monoclonal antibody called bevacizumab that blocks vascular endothelial growth factor (VEGF) has occasionally been used to control peritumoral edema without the negative effects of glucocorticoids.<ref name="PMID:19857784.">{{cite journal |vauthors Liu AK|title= Bevacizumab as therapy for radiation necrosis in four children with pontine gliomas. 2009 . |PMID=19857784|url=}}</ref>

Surgery: Outside of official clinical trials, surgery is generally not advised for children with a clinical diagnosis of diffuse brainstem glioma unless the clinical or imaging picture is unusual [54]. Routine biopsy is not able to detect people with lesions that are not high-grade astrocytomas because of the morbidity associated with surgery in this expressive region of the brain and the sampling error associated with biopsies.<ref name="PMID:16506498.">{{cite journal |vauthors Pincus DW|title=Brainstem stereotactic biopsy sampling in children.2006. |PMID=16506498.|url=}}</ref>

A biopsy is more likely to be beneficial for adults. In this situation, as with IDH-mutant gliomas, establishing the tissue diagnosis may help prognostication and guide therapy. Furthermore, in investigations conducted both before and after the availability of MRI, up to 30 percent of biopsied patients had a diagnosis other than astrocytoma (such as lymphoma, ependymoma, or infection)<ref name="PMID:22937929.">{{cite journal |vauthors Dellaretti M|title=Diffuse brainstem glioma: prognostic factors. J Neurosurg. 2012 Nov;117(5):810-4. |PMID=22937929.|url=}}</ref>

Radiation Therapy: The only treatment that seems to change the clinical course of diffuse intrinsic pontine gliomas is radiation therapy. None of the modifications—dosage escalation, modified fractionation, and radiosensitization—have shown to be more successful than radiation treatment administered normally, despite several studies.

Treatment areas for radiation therapy are usually limited to the volume of the tumor plus 1 to 2 cm of surrounding brainstem tissue. 1.8 Gy is the typical therapy dosage, administered five days a week, for a total dose of 54–59.4 Gy. Individuals experiencing severe symptoms might need to start radiation therapy right once.

Radiation treatment can cause a significant amount of tumor shrinking, but the effects are usually temporary, and patients cannot be cured with this method.

Chemotherapy:Children with diffuse intrinsic pontine gliomas have not responded well to chemotherapy. Many therapeutic approaches have been attempted in adults and children, including single chemotherapy drugs, multiple combination regimens, and high-dose therapy with stem cell rescue, but none have shown any conclusive benefits.<ref name="PMID:17278121.">{{cite journal |vauthors Korones DN |title=Treatment of children with diffuse intrinsic brain stem glioma with radiotherapy, vincristine and oral VP-16: a Children's Oncology Group phase II study. Pediatr Blood Cancer. 2008 Feb;50(2):227-30. |PMID=17278121..|url=}}</ref>
While most adult patients with high-grade gliomas now receive [[temozolomide]] as part of their standard therapy, testing in conjunction with radiation for recently diagnosed diffuse intrinsic pontine gliomas has not shown any improvement in activity when compared to radiation alone, and it is linked to a higher risk of toxicity and
side effects.

==[[ Diffuse intrinsic pontine glioma|Prognosis]]==

The prognosis of diffuse intrinsic pontine glioma is poor, with a median overall survival of 10 to 11 months. Five-year survival is less than 3 percent, and many long-term survivors have evidence of moderate or severe cognitive impairment, likely as a consequence of radiation therapy

Diffuse intrinsic pontine glioma

2024-07-12T08:45:40Z

Rithish Nimmagadda:

Diffuse intrinsic pontine glioma

2024-07-12T07:02:35Z

Rithish Nimmagadda: /* Pathophysiology */

Diffuse intrinsic pontine glioma

2024-07-10T13:51:27Z

Rithish Nimmagadda: Created page with "__NOTOC__ {{ Diffuse intrinsic pontine glioma}} {{CMG}}; {{VSRN}} ==INTRODUCTION== The biologic nature of brainstem gliomas varies widely; these tumors might be low-grade and require minimal therapy, or they can be swiftly deadly even with vigorous therapy. The location of the tumor within the brainstem, the length of the clinical symptoms, and, increasingly, the mutational profile all affect the prognosis and course of tre..."

User:Rithish Nimmagadda

2024-07-07T11:15:57Z

Rithish Nimmagadda:

<nowiki>
__NOTOC__
==Your Name==
''' Rithish Nimmagadda,MBBS

Research scholar
 Contact:945-278-1660 
Email: rithishnvs@gmail.com [mailto:rithishnvs@gmail.com] 

==Current Position==
* research scholar (list chapters here) 

==Education==
Medical Degree from Kamineni Academy of Medical sciences and research centre , Hyderabad , India

==Pages Authored==

<div style="-moz-column-count:8; column-count:2;">

#[[Epcoritamab-bysp]]
#[[Elfabrio]]
#[[Mirikizumab-mrkz]]
#[[Bimekizumab]]
#[[Lotilaner]]
#[[Quizartinib]]
#[[Ritlecitinib]]
#[[Tofersen]]
#[[Retifanlimab-dlwr]]
#[[Velmanase alfa-tycv]]
#[[Elacestrant]]
#[[Pirtobrutinib]]
#[[vonoprazan, amoxicillin, and clarithromycin]]
#[[Iptacopa]]
#[[GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME]]
#[[Rumination disorder]]
#[[Birt-Hogg-Dubé syndrome]]
#[[Ischemic hepatitis]]

==Pages Co-authored/Collaborated==

#[[Eosinophilic esophagitis medical therapy]]
#[[Migraine]]
#[[Cardiac amyloidosis]]
#[[Aspergillosis]]

Ischemic hepatitis

2024-07-07T11:15:22Z

Rithish Nimmagadda:

__NOTOC__
{{SI}}
{{CMG}}; {{AE}} ; {{VSRN}}

==Overview==
'''Ischemic hepatitis''' (also known as '''shock liver''') is a condition of decreased blood supply to the [[liver]] resulting in injury to liver cells ([[hepatocyte]]s), which occurs in a diffuse fashion.

The decreased blood flow ([[perfusion]]) to the liver is usually due to [[shock]] or [[hypotension|low blood pressure]]. However, local causes involving the [[hepatic artery]] that supplies oxygen to the liver, such as [[sickle cell anemia|sickle cell crisis]] and [[thrombosis]] of the [[hepatic artery]], can also cause ischemic hepatitis. Patients with ischemic hepatitis are usually very ill.

Blood testing usually shows high levels of the [[liver function tests|liver transaminase]] enzymes, [[AST]] and [[ALT]], which may exceed 1000 U/L. People who develop ischemic hepatitis may have [[abdominal pain|pain]] in the right upper part of the [[abdomen]], but they usually feel more unwell because of the serious reason that they developed the [[ischemia]], than due to the ischemic hepatitis itself. [[Jaundice]] can occur, but is rare and transient, as is actual loss of function of the liver.

Ischemic hepatitis is related to another condition called [[nutmeg liver|congestive hepatopathy]] or [[nutmeg liver]], which is a backflow condition due to poor drainage of the liver, usually due to [[heart failure]]. As a result, the two entities can co-exist.

==Historical Perspective==
The most frequent cause of severe acute liver damage in the US is ischemic hepatitis, which affects around 2% of patients hospitalized to the intensive care unit.
About 80% of patients had an underlying cardiac condition.

==Pathophysiology==
The pathophysiology of hypoxia and necrosis in hepatic tissue:

1-Congestion in the liver brought on by an underlying illness (heart failure, for example) can lead to anatomical alterations in the liver (hepatocyte atrophy, sinusoidal centrilobular dilatation, etc.) and altered hepatic blood flow.

2-Hepatic blood flow is affected by reduced cardiac output, hypovolemic shock, or cardiac arrest.

3-Septic shock is caused by the following factors: circulating endotoxins, inflammatory cytokines, hepatic metabolic demands, hepatocytes' capability to collect and use oxygen, and hepatic blood flow.

==clinical features==
Symptomless
Weakness, exhaustion, and changed mental state
hypertension and bradycardia
Hepatomegaly, right upper quadrant pain, nausea, vomiting, and anorexia

==Diagnosis==
clinical history and physical examination -
cardiopulmonary disease, hypotension

-lab investigations

AST levels that are extremely high (> 1000 U/L)
Levels of serum peak 1-3 days
Values stabilize about 7–10 days after the restoration of hepatic perfusion.
elevated levels of bilirubin
increased LDH concentrations
ALT:LDH ratio less than 1.5
elevated BUN and creatinine levels in the blood
Normal levels of alkaline phosphatase

Studies on coagulation: prothrombin time may be extended

Imaging: to detect portal vein thrombosis or hepatic artery blockage (e.g., using Doppler ultrasonography, MRI, or arteriography)
Other: to rule out other potential causes of acute liver damage, such as acute viral hepatitis or acetaminophen overdose.

==Differential Diagnosis==
1.Drug induced acute liver failure
2.Acute viral hepatitis
3.Hepatic infarction

==Treatment==
===Medical Therapy===

Ischemic hepatitis does not have a particular therapy.
Address the root cause.
Hemodynamic assistance (vasopressor, inotropes, volume resuscitation) and restoration of cardiac output are required.

===Prognosis===
Depends on the underlying condition, duration, and extent of the hemodynamic compromise

Higher death rates are linked to the following factors:
patient on Vasopressor therapy
high INR
septic shock
failure of the kidneys

==References==
{{reflist|2}}

[[Category:Hepatology]]
[[Category:Cardiology]]
[[Category:Gastroenterology]]

{{WH}}
{{WS}}

Ischemic hepatitis

2024-07-07T11:02:46Z

Rithish Nimmagadda: /* Historical Perspective */

__NOTOC__
{{SI}}
{{CMG}}; {{AE}}

==Overview==
'''Ischemic hepatitis''' (also known as '''shock liver''') is a condition of decreased blood supply to the [[liver]] resulting in injury to liver cells ([[hepatocyte]]s), which occurs in a diffuse fashion.

The decreased blood flow ([[perfusion]]) to the liver is usually due to [[shock]] or [[hypotension|low blood pressure]]. However, local causes involving the [[hepatic artery]] that supplies oxygen to the liver, such as [[sickle cell anemia|sickle cell crisis]] and [[thrombosis]] of the [[hepatic artery]], can also cause ischemic hepatitis. Patients with ischemic hepatitis are usually very ill.

Blood testing usually shows high levels of the [[liver function tests|liver transaminase]] enzymes, [[AST]] and [[ALT]], which may exceed 1000 U/L. People who develop ischemic hepatitis may have [[abdominal pain|pain]] in the right upper part of the [[abdomen]], but they usually feel more unwell because of the serious reason that they developed the [[ischemia]], than due to the ischemic hepatitis itself. [[Jaundice]] can occur, but is rare and transient, as is actual loss of function of the liver.

Ischemic hepatitis is related to another condition called [[nutmeg liver|congestive hepatopathy]] or [[nutmeg liver]], which is a backflow condition due to poor drainage of the liver, usually due to [[heart failure]]. As a result, the two entities can co-exist.

==Historical Perspective==
The most frequent cause of severe acute liver damage in the US is ischemic hepatitis, which affects around 2% of patients hospitalized to the intensive care unit.
About 80% of patients had an underlying cardiac condition.

==Classification==

==Pathophysiology==

==Causes==

==Differentiating {{PAGENAME}} from Other Diseases==

==Epidemiology and Demographics==

==Risk Factors==

==Screening==

==Natural History, Complications, and Prognosis==
===Natural History===

===Complications===

===Prognosis===

==Diagnosis==
===Diagnostic Criteria===

===History and Symptoms===

===Physical Examination===

===Laboratory Findings===

===Imaging Findings===

===Other Diagnostic Studies===

==Treatment==
===Medical Therapy===

===Surgery===

===Prevention===

==References==
{{reflist|2}}

[[Category:Hepatology]]
[[Category:Cardiology]]
[[Category:Gastroenterology]]

{{WH}}
{{WS}}

Birt-Hogg-Dubé syndrome

2024-07-06T10:27:00Z

Rithish Nimmagadda: /* DIAGNOSIS */

{{Infobox_Disease |
Name = {{PAGENAME}} |
Image = |
Caption = |
DiseasesDB = 33274 |
ICD10 = |
ICD9 = |
ICDO = |
OMIM = 135150 |
MedlinePlus = |
eMedicineSubj = derm |
eMedicineTopic = 622 |
MeshID = |
}}
{{SI}}

{{CMG}}; Associate Editor(s)-in-Chief: {{VSRN}}

'''Birt-Hogg-Dubé syndrome''' (BHD) is a rare human [[genetic disorder]]. The disorder has been reported in more than 200 families, and it is [[heredity|inherited]] in an [[autosomal dominant]] pattern.

==History==
The syndrome was first described in 1977. <ref>Birt, A. R., Hogg, G. R., and Dubé, W. J. 1977. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. ''Arch. Derm.'' 113: 1674-1677. PMID 596896 </ref>

==Presentation==
Birt-Hogg-Dubé syndrome is a rare disorder that affects the [[skin]] and increases the risk of certain types of [[tumor]]s. The condition is characterized by multiple noncancerous tumors of the [[hair follicle]]s, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties. People with Birt-Hogg-Dubé syndrome also have an increased risk of developing [[cancer]]ous or noncancerous [[kidney]] tumors and possibly tumors in other organs and tissues. Additionally, affected individuals have a higher chance of developing [[cyst]]s in the [[lung]]s and an abnormal collection of air in the chest cavity ([[pneumothorax]]) that may result in the collapse of a lung.

==Genetics==
Mutations in the ''FLCN'' gene located on chromosome 17p11.2 cause Birt-Hogg-Dubé syndrome.These variants include small insertion/deletions, splice-site, and nonsense variants, which lead, in most cases, to premature truncation and loss of function of the folliculin protein <ref name="PMID:19802896.">{{cite journal |vauthors=Lim DH |title= A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. |PMID=19802896.|url=}}</ref> <ref>Nickerson, M. L. et al. 2002. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. ''Cancer Cell'' 2: 157-164. PMID 12204536 </ref> The ''FLCN'' gene makes a protein called [[folliculin]]. The normal function of this protein is unknown, but researchers believe that it may act as a tumor suppressor. Tumor suppressors normally prevent cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the ''FLCN'' gene may interfere with the ability of folliculin to restrain cell growth and division, leading to the formation of noncancerous and cancerous tumors.

Researchers believe that two copies (instead of one copy) of the ''FLCN'' gene must be altered for a person to develop the kidney tumors often seen in Birt-Hogg-Dubé syndrome. People with this condition are born with one mutated copy of the FLCN gene in each cell. Then, during their lifetime, the other copy of the gene is mutated in kidney cells. These genetic changes result in no functional copies of the FLCN gene in these cells, allowing the cells to divide uncontrollably and form tumors.

==CLINICAL MANIFESTATION==
Fibrofolliculomas, or cutaneous lesions, are usually the first and most common sign of BHD syndrome. About 90% of patients experience the onset of these lesions in their third decade of life. They manifest as spherical, white-gray papules that range in size from 1 to 4 mm, with some displaying a central dell that corresponds to the follicular opening. There may also be cystic or comedonal lesions, as well as lesions up to 8 mm in size.<ref name="PMID:25970555.">{{cite journal |vauthors=Aivaz O |title= Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. |PMID=25970555.|url=}}</ref> Together with fibrofolliculomas, other skin lesions that were first identified in BHD syndrome cases were trichodiscomas and acrochordons. Trichodiscomas can be a histologic variation of the same tumor and are clinically indistinguishable from fibrofolliculomas.Angiofibromas, sometimes referred to as fibrous papules, are widespread in the general population but are also occasionally observed in the context of BHD syndrome.<ref name="PMID:27274535.">{{cite journal |vauthors=DiCicco B |title= WM. Koenen's tumor and facial angiofibromas in a case of Birt-Hogg-Dubé syndrome: A cutaneous contribution to growing evidence of a relationship with tuberous sclerosis complex |PMID=27274535.|url=}}</ref>

lung manifestations: In 70–80% of afflicted family members with BHD syndrome, multiple, bilateral lung cysts form; these cysts may be the only sign of the illness.<ref name="PMID:217496196.">{{cite journal |vauthors=Gunji Y |title= Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax |PMID=17496196.|url=}}</ref> Thin-walled, irregularly shaped pulmonary cysts are common on high-resolution chest computed tomography (HRCT) images; the majority of these cysts are less than one centimeter in size.

kidney tumors: Around the age of 50 (range: 30 to 70 years), 12 to 34 percent of individuals will develop renal cancer, the most dangerous symptom of BHD condition. Unlike other hereditary renal cancer syndromes, which are often linked to a specific histologic tumor type, BHD syndrome is linked to a variety of tumor histologies, with chromophobe tumors and hybrid chromophobe/oncocytic tumors being the most prevalent. Rarely, papillary carcinoma, mixed-type carcinoma, and clear cell carcinoma may be seen. <ref name="PMID:18234728.">{{cite journal |vauthors=Toro JR |title= BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. |PMID=18234728.|url=}}</ref> <ref name="PMID:15852235.">{{cite journal |vauthors=Schmidt LS|title= Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome |PMID=15852235.|url=}}</ref> <ref name="PMID:15821464.">{{cite journal |vauthors=Pavlovich CP|title= Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. |PMID=15821464.|url=}}</ref> <ref name="PMID: 12459621.">{{cite journal |vauthors=Pavlovich CP|title=Renal tumors in the Birt-Hogg-Dubé syndrome |PMID= 12459621.|url=}}</ref>

==DIAGNOSIS==
Skin biopsy: When a patient presents with many face papules that are thought to be fibrofolliculomas, a skin biopsy is recommended. Because a punch biopsy makes the whole tumor and related hair follicle visible, it is recommended above a shave biopsy.

Imaging studies:Patients who may have BHD syndrome should have serial baseline imaging of the chest and abdomen. High-resolution chest computed tomography (HRCT) can detect occult pneumothoraces or lung cysts.

Genetic testing: By sequencing the full coding area of the folliculin (FLCN), germline pathogenic mutations in FLCN may be found, which validates the diagnosis of BHD syndrome. Sequence analysis of all 14 exons in the National Cancer Institute BHD syndrome cohort revealed disease mutations in the FLCN gene in 88% of the families.

Diagnostic criteria: The existence of one or more of the following suggested criteria is used to make the diagnosis of BHD syndrome<ref name="PMID: 26334087.">{{cite journal |vauthors=Schmidt LS|title=Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome |PMID= 26334087.|url=}}</ref>

- >2 skin lesions that are clinically suggestive of fibrofolliculoma and/or trichodiscoma, and >1 fibrofolliculoma that has been histologically verified

- Many bilateral pulmonary cysts mostly in the lung's basilar areas, with or without a history of spontaneous pneumothorax before to age 40, particularly if connected to a family history of comparable pulmonary symptoms

- Hybrid oncocytic tumors or bilateral, multifocal chromophobe renal carcinomas, particularly in patients with a family history of renal tumors at <50 years of age

- A combination of these pulmonary, renal, or cutaneous manifestations presenting in the patient or family members

- Deoxyribonucleic acid (DNA) sequencing identification of a germline pathogenic variant in FLCN

==Management==
Skin lesions: Trichodiscomas and fibrofolliculomas are benign lesions that often don't need to be treated. Nonetheless, some individuals may seek therapy for cosmetic reasons if they have a large number of facial abnormalities. While recurrence is common, some individuals have had favorable success via destructive procedures such as shave removal, electrodesication with or without curettage, and carbon dioxide (CO2) or erbium-doped yttrium aluminum garnet (Er:YAG) laser ablation. <ref name="PMID:11220238">{{cite journal |vauthors=Kahle B|title=Erfolgreiche Therapie mit dem CO2-laser [Multiple mantleomas in Birt-Hogg-Dubé syndrome: successful therapy with CO2 laser] |PMID= 11220238.|url=}}</ref> <ref name="PMID:11050594.">{{cite journal |vauthorsGambichler T|title= Treatment of Birt-Hogg-Dubé syndrome with erbium:YAG laser. |PMID= 11050594.|url=}}</ref> <ref name="PMID: 11220238.">{{cite journal |vauthors Kahle B|title= Multiple Mantelome bei Birt-Hogg-Dubé-Syndrom. Erfolgreiche Therapie mit dem CO2-laser [Multiple mantleomas in Birt-Hogg-Dubé syndrome: successful therapy with CO2 laser]. |PMID= 11220238.|url=}}</ref>

Pneumothorax : Treatment of pneumothorax in patients with Birt-Hogg-Dubé (BHD) syndrome is the same as in patients with secondary pneumothorax

Renal tumors: The only available therapy for renal tumors linked to the BHD condition is surgery. Chromophobe and hybrid oncocytic tumors, the most prevalent types of BHD syndrome tumors, are often indolent. Experts advise nephron-sparing surgery for tumors larger than 3 cm in diameter and active surveillance if the dominant lesion is less than 3 cm in diameter. They also advise removing any intraoperatively discovered lesions.<ref name="PMID: 23703644.">{{cite journal |vauthors Stamatakis L|title= Diagnosis and management of BHD-associated kidney cancer. Fam Cancer. |PMID= 23703644|url=}}</ref>

==References==
<references/>

''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]''

[[it:Sindrome di Birt-Hogg-Dubé]]

[[Category:Genetic disorders]]
[[Category:Genetic Disease]]

{{WikiDoc Help Menu}}
{{WS}}

User:Rithish Nimmagadda

2024-07-06T10:15:19Z

Rithish Nimmagadda: /* Pages Authored */

<nowiki>
__NOTOC__
==Your Name==
''' Rithish Nimmagadda,MBBS

Research scholar
 Contact:945-278-1660 
Email: rithishnvs@gmail.com [mailto:rithishnvs@gmail.com] 

==Current Position==
* research scholar (list chapters here) 

==Education==
Medical Degree from Kamineni Academy of Medical sciences and research centre , Hyderabad , India

==Pages Authored==

<div style="-moz-column-count:8; column-count:2;">

#[[Epcoritamab-bysp]]
#[[Elfabrio]]
#[[Mirikizumab-mrkz]]
#[[Bimekizumab]]
#[[Lotilaner]]
#[[Quizartinib]]
#[[Ritlecitinib]]
#[[Tofersen]]
#[[Retifanlimab-dlwr]]
#[[Velmanase alfa-tycv]]
#[[Elacestrant]]
#[[Pirtobrutinib]]
#[[vonoprazan, amoxicillin, and clarithromycin]]
#[[Iptacopa]]
#[[GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME]]
#[[Rumination disorder]]
#[[Birt-Hogg-Dubé syndrome]]

==Pages Co-authored/Collaborated==

#[[Eosinophilic esophagitis medical therapy]]
#[[Migraine]]
#[[Cardiac amyloidosis]]
#[[Aspergillosis]]

User:Rithish Nimmagadda

2024-07-06T10:15:01Z

Rithish Nimmagadda: /* Pages Authored */

<nowiki>
__NOTOC__
==Your Name==
''' Rithish Nimmagadda,MBBS

Research scholar
 Contact:945-278-1660 
Email: rithishnvs@gmail.com [mailto:rithishnvs@gmail.com] 

==Current Position==
* research scholar (list chapters here) 

==Education==
Medical Degree from Kamineni Academy of Medical sciences and research centre , Hyderabad , India

==Pages Authored==

<div style="-moz-column-count:8; column-count:2;">

#[[Epcoritamab-bysp]]
#[[Elfabrio]]
#[[Mirikizumab-mrkz]]
#[[Bimekizumab]]
#[[Lotilaner]]
#[[Quizartinib]]
#[[Ritlecitinib]]
#[[Tofersen]]
#[[Retifanlimab-dlwr]]
#[[Velmanase alfa-tycv]]
#[[Elacestrant]]
#[[Pirtobrutinib]]
#[[vonoprazan, amoxicillin, and clarithromycin]]
#[[Iptacopa]]
#[[GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME]]
#[[Rumination disorder]]
#[[Birt-Hogg-Dubé syndrome]

==Pages Co-authored/Collaborated==

#[[Eosinophilic esophagitis medical therapy]]
#[[Migraine]]
#[[Cardiac amyloidosis]]
#[[Aspergillosis]]

Birt-Hogg-Dubé syndrome

2024-07-06T10:14:20Z

Rithish Nimmagadda:

{{Infobox_Disease |
Name = {{PAGENAME}} |
Image = |
Caption = |
DiseasesDB = 33274 |
ICD10 = |
ICD9 = |
ICDO = |
OMIM = 135150 |
MedlinePlus = |
eMedicineSubj = derm |
eMedicineTopic = 622 |
MeshID = |
}}
{{SI}}

{{CMG}}; Associate Editor(s)-in-Chief: {{VSRN}}

'''Birt-Hogg-Dubé syndrome''' (BHD) is a rare human [[genetic disorder]]. The disorder has been reported in more than 200 families, and it is [[heredity|inherited]] in an [[autosomal dominant]] pattern.

==History==
The syndrome was first described in 1977. <ref>Birt, A. R., Hogg, G. R., and Dubé, W. J. 1977. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. ''Arch. Derm.'' 113: 1674-1677. PMID 596896 </ref>

==Presentation==
Birt-Hogg-Dubé syndrome is a rare disorder that affects the [[skin]] and increases the risk of certain types of [[tumor]]s. The condition is characterized by multiple noncancerous tumors of the [[hair follicle]]s, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties. People with Birt-Hogg-Dubé syndrome also have an increased risk of developing [[cancer]]ous or noncancerous [[kidney]] tumors and possibly tumors in other organs and tissues. Additionally, affected individuals have a higher chance of developing [[cyst]]s in the [[lung]]s and an abnormal collection of air in the chest cavity ([[pneumothorax]]) that may result in the collapse of a lung.

==Genetics==
Mutations in the ''FLCN'' gene located on chromosome 17p11.2 cause Birt-Hogg-Dubé syndrome.These variants include small insertion/deletions, splice-site, and nonsense variants, which lead, in most cases, to premature truncation and loss of function of the folliculin protein <ref name="PMID:19802896.">{{cite journal |vauthors=Lim DH |title= A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. |PMID=19802896.|url=}}</ref> <ref>Nickerson, M. L. et al. 2002. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. ''Cancer Cell'' 2: 157-164. PMID 12204536 </ref> The ''FLCN'' gene makes a protein called [[folliculin]]. The normal function of this protein is unknown, but researchers believe that it may act as a tumor suppressor. Tumor suppressors normally prevent cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the ''FLCN'' gene may interfere with the ability of folliculin to restrain cell growth and division, leading to the formation of noncancerous and cancerous tumors.

Researchers believe that two copies (instead of one copy) of the ''FLCN'' gene must be altered for a person to develop the kidney tumors often seen in Birt-Hogg-Dubé syndrome. People with this condition are born with one mutated copy of the FLCN gene in each cell. Then, during their lifetime, the other copy of the gene is mutated in kidney cells. These genetic changes result in no functional copies of the FLCN gene in these cells, allowing the cells to divide uncontrollably and form tumors.

==CLINICAL MANIFESTATION==
Fibrofolliculomas, or cutaneous lesions, are usually the first and most common sign of BHD syndrome. About 90% of patients experience the onset of these lesions in their third decade of life. They manifest as spherical, white-gray papules that range in size from 1 to 4 mm, with some displaying a central dell that corresponds to the follicular opening. There may also be cystic or comedonal lesions, as well as lesions up to 8 mm in size.<ref name="PMID:25970555.">{{cite journal |vauthors=Aivaz O |title= Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome. |PMID=25970555.|url=}}</ref> Together with fibrofolliculomas, other skin lesions that were first identified in BHD syndrome cases were trichodiscomas and acrochordons. Trichodiscomas can be a histologic variation of the same tumor and are clinically indistinguishable from fibrofolliculomas.Angiofibromas, sometimes referred to as fibrous papules, are widespread in the general population but are also occasionally observed in the context of BHD syndrome.<ref name="PMID:27274535.">{{cite journal |vauthors=DiCicco B |title= WM. Koenen's tumor and facial angiofibromas in a case of Birt-Hogg-Dubé syndrome: A cutaneous contribution to growing evidence of a relationship with tuberous sclerosis complex |PMID=27274535.|url=}}</ref>

lung manifestations: In 70–80% of afflicted family members with BHD syndrome, multiple, bilateral lung cysts form; these cysts may be the only sign of the illness.<ref name="PMID:217496196.">{{cite journal |vauthors=Gunji Y |title= Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax |PMID=17496196.|url=}}</ref> Thin-walled, irregularly shaped pulmonary cysts are common on high-resolution chest computed tomography (HRCT) images; the majority of these cysts are less than one centimeter in size.

kidney tumors: Around the age of 50 (range: 30 to 70 years), 12 to 34 percent of individuals will develop renal cancer, the most dangerous symptom of BHD condition. Unlike other hereditary renal cancer syndromes, which are often linked to a specific histologic tumor type, BHD syndrome is linked to a variety of tumor histologies, with chromophobe tumors and hybrid chromophobe/oncocytic tumors being the most prevalent. Rarely, papillary carcinoma, mixed-type carcinoma, and clear cell carcinoma may be seen. <ref name="PMID:18234728.">{{cite journal |vauthors=Toro JR |title= BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. |PMID=18234728.|url=}}</ref> <ref name="PMID:15852235.">{{cite journal |vauthors=Schmidt LS|title= Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome |PMID=15852235.|url=}}</ref> <ref name="PMID:15821464.">{{cite journal |vauthors=Pavlovich CP|title= Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. |PMID=15821464.|url=}}</ref> <ref name="PMID: 12459621.">{{cite journal |vauthors=Pavlovich CP|title=Renal tumors in the Birt-Hogg-Dubé syndrome |PMID= 12459621.|url=}}</ref>

==DIAGNOSIS==
Skin biopsy: When a patient presents with many face papules that are thought to be fibrofolliculomas, a skin biopsy is recommended. Because a punch biopsy makes the whole tumor and related hair follicle visible, it is recommended above a shave biopsy.

Imaging studies:Patients who may have BHD syndrome should have serial baseline imaging of the chest and abdomen. High-resolution chest computed tomography (HRCT) can detect occult pneumothoraces or lung cysts.

Genetic testing: By sequencing the full coding area of the folliculin (FLCN), germline pathogenic mutations in FLCN may be found, which validates the diagnosis of BHD syndrome. Sequence analysis of all 14 exons in the National Cancer Institute BHD syndrome cohort revealed disease mutations in the FLCN gene in 88% of the families.

Diagnostic criteria: The existence of one or more of the following suggested criteria is used to make the diagnosis of BHD syndrome:

- >2 skin lesions that are clinically suggestive of fibrofolliculoma and/or trichodiscoma, and >1 fibrofolliculoma that has been histologically verified

- Many bilateral pulmonary cysts mostly in the lung's basilar areas, with or without a history of spontaneous pneumothorax before to age 40, particularly if connected to a family history of comparable pulmonary symptoms

- Hybrid oncocytic tumors or bilateral, multifocal chromophobe renal carcinomas, particularly in patients with a family history of renal tumors at <50 years of age

- A combination of these pulmonary, renal, or cutaneous manifestations presenting in the patient or family members

- Deoxyribonucleic acid (DNA) sequencing identification of a germline pathogenic variant in FLCN

<ref name="PMID: 26334087.">{{cite journal |vauthors=Schmidt LS|title=Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome |PMID= 26334087.|url=}}</ref>

==Management==
Skin lesions: Trichodiscomas and fibrofolliculomas are benign lesions that often don't need to be treated. Nonetheless, some individuals may seek therapy for cosmetic reasons if they have a large number of facial abnormalities. While recurrence is common, some individuals have had favorable success via destructive procedures such as shave removal, electrodesication with or without curettage, and carbon dioxide (CO2) or erbium-doped yttrium aluminum garnet (Er:YAG) laser ablation. <ref name="PMID:11220238">{{cite journal |vauthors=Kahle B|title=Erfolgreiche Therapie mit dem CO2-laser [Multiple mantleomas in Birt-Hogg-Dubé syndrome: successful therapy with CO2 laser] |PMID= 11220238.|url=}}</ref> <ref name="PMID:11050594.">{{cite journal |vauthorsGambichler T|title= Treatment of Birt-Hogg-Dubé syndrome with erbium:YAG laser. |PMID= 11050594.|url=}}</ref> <ref name="PMID: 11220238.">{{cite journal |vauthors Kahle B|title= Multiple Mantelome bei Birt-Hogg-Dubé-Syndrom. Erfolgreiche Therapie mit dem CO2-laser [Multiple mantleomas in Birt-Hogg-Dubé syndrome: successful therapy with CO2 laser]. |PMID= 11220238.|url=}}</ref>

Pneumothorax : Treatment of pneumothorax in patients with Birt-Hogg-Dubé (BHD) syndrome is the same as in patients with secondary pneumothorax

Renal tumors: The only available therapy for renal tumors linked to the BHD condition is surgery. Chromophobe and hybrid oncocytic tumors, the most prevalent types of BHD syndrome tumors, are often indolent. Experts advise nephron-sparing surgery for tumors larger than 3 cm in diameter and active surveillance if the dominant lesion is less than 3 cm in diameter. They also advise removing any intraoperatively discovered lesions.<ref name="PMID: 23703644.">{{cite journal |vauthors Stamatakis L|title= Diagnosis and management of BHD-associated kidney cancer. Fam Cancer. |PMID= 23703644|url=}}</ref>

==References==
<references/>

''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]''

[[it:Sindrome di Birt-Hogg-Dubé]]

[[Category:Genetic disorders]]
[[Category:Genetic Disease]]

{{WikiDoc Help Menu}}
{{WS}}

User:Rithish Nimmagadda

2024-06-26T23:55:02Z

Rithish Nimmagadda: /* Pages Authored */

<nowiki>
__NOTOC__
==Your Name==
''' Rithish Nimmagadda,MBBS

Research scholar
 Contact:945-278-1660 
Email: rithishnvs@gmail.com [mailto:rithishnvs@gmail.com] 

==Current Position==
* research scholar (list chapters here) 

==Education==
Medical Degree from Kamineni Academy of Medical sciences and research centre , Hyderabad , India

==Pages Authored==

<div style="-moz-column-count:8; column-count:2;">

#[[Epcoritamab-bysp]]
#[[Elfabrio]]
#[[Mirikizumab-mrkz]]
#[[Bimekizumab]]
#[[Lotilaner]]
#[[Quizartinib]]
#[[Ritlecitinib]]
#[[Tofersen]]
#[[Retifanlimab-dlwr]]
#[[Velmanase alfa-tycv]]
#[[Elacestrant]]
#[[Pirtobrutinib]]
#[[vonoprazan, amoxicillin, and clarithromycin]]
#[[Iptacopa]]
#[[GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME]]
#[[Rumination disorder]]

==Pages Co-authored/Collaborated==

#[[Eosinophilic esophagitis medical therapy]]
#[[Migraine]]
#[[Cardiac amyloidosis]]
#[[Aspergillosis]]

Rumination disorder

2024-06-26T23:53:57Z

Rithish Nimmagadda:

__NOTOC__
{{SI}}

{{CMG}} ; {{AE}} Mark Warren, M.D., M.P.H.; Fellow, Academy of Eating Disorders [mailto:mwarren@eatingdisorderscleveland.org]; {{VSRN}}; {{KS}}

{{SK}} Childhood rumination disorder; merycism, rumination syndrome

==Overview==
Rumination is an [[eating disorder]] characterized by having the contents of the [[stomach]] drawn back up into the [[mouth]], chewed for a second time, and [[swallowing|swallowed]] again. In some animals, known as [[ruminant]]s, this is a natural and healthy part of [[digestion]] and is not considered an eating disorder. However, in other species (including humans), such behavior is atypical and potentially dangerous as the [[esophagus]] can be damaged by frequent exposure to [[stomach]] acids. Rumination is also associated with eating disorders such as anorexia nervosa, and can be the result of one's apprehension and nervousness after eating a normal meal. For those with purging behaviors, rumination can take place when the option of getting rid of a meal via throwing up is not available (thus, one might feel worried and visibly upset). Rumination has also been reported in developmentally normal children and adults who experience regurgitation of previously swallowed food, without disgust, nausea or an acidic taste. The food is either chewed and reswallowed or spat out. Remission of these episodes is seen in some cases while others persist. Many claim this as a pleasurable habit.

==[[ Rumination disorderhistorical perspective|Historical Perspective , Epidemiology and Demographics]]==

prevalence: Both adults and children are susceptible to rumination syndrome. Out of the 2163 children and adolescents questioned for this study, 110 (5%) met the clinical criteria for rumination syndrome. In one research conducted in the United States, the prevalence of rumination was 5.8 percent <ref name="PMID:34774539.">{{cite journal |vauthors=Josefsson A|title= Global Prevalence and Impact of Rumination Syndrome Eur J Brain Pathol. Neurology. |PMID= 34774539.|url=}}</ref>
; in another, almost 50,000 individuals were questioned in 26 nations. Rumination syndrome may affect as many as 7 to 8 percent of people with fibromyalgia or eating problems.<ref name="PMID:19138763.">{{cite journal |vauthors=Almansa C|title= Prevalence of functional gastrointestinal disorders in patients with fibromyalgia and the role of psychologic distress Eur J Brain Pathol. Neurology. |PMID= 19138763.|url=}}</ref> Related disorders: Constipation from a rectal evacuation disorder, anxiety, depression, adjustment disorder, obsessive compulsive disorder, post-traumatic stress disorder, and attention deficit-hyperactivity disorder have all been linked to rumination syndrome. While some research indicates that adults and adolescents with developmental delays are more likely to experience rumination syndrome

==[[ Rumination disorderpathophysiology|Pathophysiology]]==

Although the exact cause of rumination syndrome is unknown, one important pathogenetic characteristic that seems to be present is unperceived abdominal wall activity throughout the postprandial interval. Although the precise cause of this activation of the abdominal wall is unknown, given the similarities between rumination syndrome and functional dyspepsia, it is plausible that postprandial dyspeptic symptoms are the trigger for rumination episodes.<ref name="PMID:34626489.">{{cite journal |vauthors=Zand Irani M|title= Prevalence, symptoms and risk factor profile of rumination syndrome and functional dyspepsia: a population-based study Eur J Brain Pathol. Neurology. |PMID= 34626489.|url=}}</ref>

In individuals with rumination syndrome, a permissive esophagogastric gradient is created by a combination of elevated intra-abdominal pressure and negative intrathoracic pressure, which causes the retrograde flow of eaten gastric material into the mouth. Rumination occurs after stomach pressurizations surpassing 30 mmHg on postprandial esophageal high resolution impedance manometry. This is linked to lower and upper esophageal relaxation during the gastric pressurization. This suggests that malfunctioning of the upper and lower esophageal sphincters is probably involved in rumination and that elevated intra-abdominal pressure alone is not sufficient to explain it.<ref name="PMID:26661735.">{{cite journal |vauthors=Halland M|title= Diaphragmatic breathing for rumination syndrome: efficacy and mechanisms of action. Neurogastroenterol Motil Eur J Brain Pathol. Neurology. |PMID= 26661735.|url=}}</ref>

It is believed that the activation of the muscles in the abdominal wall is what causes this surge in intraluminal pressure. During electromyography recordings, postprandial abdominal wall activity has also been noted; this activation is correlated with bouts of regurgitation. <ref name="PMID:27185077..">{{cite journal |vauthors=Barba E|title= Randomized, Placebo-Controlled Trial of Biofeedback for the Treatment of Rumination Eur J Brain Pathol. Neurology. |PMID= 27185077.|url=}}</ref> <ref name="PMID:24768808">{{cite journal |vauthors=Barba E|title= Biofeedback-guided control of abdominothoracic muscular activity reduces regurgitation episodes in patients with rumination. |PMID= 24768808|url=}}</ref>

==[[ Rumination disordercauses|Clinical features]]==

The hallmark of rumination syndrome is fast regurgitation, typically starting within ten minutes of meal completion. Episodes often last for one to two hours following the meal, and the regurgitant is made up of partly digested food that tastes similar to what was really swallowed. Easy to perform, regurgitation is frequently caused by an abdominal ache, pressure, or burning feeling that has to be eased.

Retching is not typically seen before an episode. Consciously, the content is regurgitated or reabsorbed. Regurgitation happens usually, if not always, after eating. In order to make up for this, patients frequently modify their eating habits and may stop eating in public.

Patients often express nausea and dyspepsia symptoms such as burning or fullness in the stomach, and there is almost a four-fold increased likelihood of overlap between rumination syndrome and functional dyspepsia than would be predicted by chance. It is unusual to have overt discomfort. About 20 to 40 percent of patients have shown signs of weight reduction. In the absence of a co-occurring eating problem, significant weight loss, electrolyte imbalances, tooth erosions, and malnutrition are uncommon. <ref name="PMID:27185077">{{cite journal |vauthors=Barba E|title= Randomized, Placebo-Controlled Trial of Biofeedback for the Treatment of Rumination. |PMID= 27185077.|url=}}</ref> <ref name="PMID:26661735.">{{cite journal |vauthors=Halland M|title= Diaphragmatic breathing for rumination syndrome: efficacy and mechanisms of action. Neurogastroenterol Motil. |PMID= 26661735.|url=}}</ref> <ref name="PMID:23173868.">{{cite journal |vauthors=Tucker E|title= Rumination variations: aetiology and classification of abnormal behavioural responses to digestive symptoms based on high-resolution manometry studies. |PMID= 23173868.|url=}}</ref>

==[[ Rumination disorderdifferential diagnosis|Differentiating Rumination disorderfrom other Diseases]]==

Rumination syndrome should be differentiated from other diseases that cause chronic [[nausea and vomiting]]. The differentials include the following:<ref name="pmid25667023">{{cite journal |vauthors=Parkman HP |title=Idiopathic gastroparesis |journal=Gastroenterol. Clin. North Am. |volume=44 |issue=1 |pages=59–68 |year=2015 |pmid=25667023 |pmc=4324534 |doi=10.1016/j.gtc.2014.11.015 |url=}}</ref><ref name="pmid17015559">{{cite journal |vauthors=Werlin SL, Fish DL |title=The spectrum of valproic acid-associated pancreatitis |journal=Pediatrics |volume=118 |issue=4 |pages=1660–3 |year=2006 |pmid=17015559 |doi=10.1542/peds.2006-1182 |url=}}</ref><ref name="pmid16369243">{{cite journal |vauthors=Noddin L, Callahan M, Lacy BE |title=Irritable bowel syndrome and functional dyspepsia: different diseases or a single disorder with different manifestations? |journal=MedGenMed |volume=7 |issue=3 |pages=17 |year=2005 |pmid=16369243 |pmc=1681633 |doi= |url=}}</ref><ref name="pmid23226859">{{cite journal |vauthors=Gupta R, Kalla M, Gupta JB |title=Adult rumination syndrome: Differentiation from psychogenic intractable vomiting |journal=Indian J Psychiatry |volume=54 |issue=3 |pages=283–5 |year=2012 |pmid=23226859 |pmc=3512372 |doi=10.4103/0019-5545.102434 |url=}}</ref><ref name="urlBody weight in bulimia nervosa | SpringerLink">{{cite web |url=https://link.springer.com/article/10.1007/BF03339730 |title=Body weight in bulimia nervosa | SpringerLink |format= |work= |accessdate=}}</ref><ref name="pmid25904280">{{cite journal |vauthors=Sağlam F, Sivrikoz E, Alemdar A, Kamalı S, Arslan U, Güven H |title=Bouveret syndrome: A fatal diagnostic dilemma of gastric outlet obstruction |journal=Ulus Travma Acil Cerrahi Derg |volume=21 |issue=2 |pages=157–9 |year=2015 |pmid=25904280 |doi= |url=}}</ref><ref name="pmid21475419">{{cite journal |vauthors=Talley NJ |title=Rumination syndrome |journal=Gastroenterol Hepatol (N Y) |volume=7 |issue=2 |pages=117–8 |year=2011 |pmid=21475419 |pmc=3061016 |doi= |url=}}</ref><ref name="pmid15067630">{{cite journal |vauthors=Tutuian R, Castell DO |title=Rumination documented by using combined multichannel intraluminal impedance and manometry |journal=Clin. Gastroenterol. Hepatol. |volume=2 |issue=4 |pages=340–3 |year=2004 |pmid=15067630 |doi= |url=}}</ref><ref name="pmid24921208">{{cite journal |vauthors=Kessing BF, Smout AJ, Bredenoord AJ |title=Current diagnosis and management of the rumination syndrome |journal=J. Clin. Gastroenterol. |volume=48 |issue=6 |pages=478–83 |year=2014 |pmid=24921208 |doi=10.1097/MCG.0000000000000142 |url=}}</ref><ref name="pmid19232280">{{cite journal |vauthors=Parkman HP |title=Assessment of gastric emptying and small-bowel motility: scintigraphy, breath tests, manometry, and SmartPill |journal=Gastrointest. Endosc. Clin. N. Am. |volume=19 |issue=1 |pages=49–55, vi |year=2009 |pmid=19232280 |doi=10.1016/j.giec.2008.12.003 |url=}}</ref><ref name="pmid19115465">{{cite journal |vauthors=Waseem S, Moshiree B, Draganov PV |title=Gastroparesis: current diagnostic challenges and management considerations |journal=World J. Gastroenterol. |volume=15 |issue=1 |pages=25–37 |year=2009 |pmid=19115465 |pmc=2653292 |doi= |url=}}</ref><ref name="pmid3699409">{{cite journal |vauthors=Mearin F, Camilleri M, Malagelada JR |title=Pyloric dysfunction in diabetics with recurrent nausea and vomiting |journal=Gastroenterology |volume=90 |issue=6 |pages=1919–25 |year=1986 |pmid=3699409 |doi= |url=}}</ref><ref name="pmid18028513">{{cite journal |vauthors=Abell TL, Camilleri M, Donohoe K, Hasler WL, Lin HC, Maurer AH, McCallum RW, Nowak T, Nusynowitz ML, Parkman HP, Shreve P, Szarka LA, Snape WJ, Ziessman HA |title=Consensus recommendations for gastric emptying scintigraphy: a joint report of the American Neurogastroenterology and Motility Society and the Society of Nuclear Medicine |journal=Am. J. Gastroenterol. |volume=103 |issue=3 |pages=753–63 |year=2008 |pmid=18028513 |doi=10.1111/j.1572-0241.2007.01636.x |url=}}</ref><ref name="pmid12014357">{{cite journal |vauthors=Jiang CF, Ng KW, Tan SW, Wu CS, Chen HC, Liang CT, Chen YH |title=Serum level of amylase and lipase in various stages of chronic renal insufficiency |journal=Zhonghua Yi Xue Za Zhi (Taipei) |volume=65 |issue=2 |pages=49–54 |year=2002 |pmid=12014357 |doi= |url=}}</ref><ref name="SzmuklerYoung1990">{{cite journal|last1=Szmukler|first1=G. I.|last2=Young|first2=G. P.|last3=Lichtenstein|first3=M.|last4=Andrews|first4=J. T.|title=A serial study of gastric emptying in anorexia nervosa and bulimia|journal=Australian and New Zealand Journal of Medicine|volume=20|issue=3|year=1990|pages=220–225|issn=00048291|doi=10.1111/j.1445-5994.1990.tb01023.x}}</ref><ref name="pmid12827003">{{cite journal |vauthors=Diamanti A, Bracci F, Gambarara M, Ciofetta GC, Sabbi T, Ponticelli A, Montecchi F, Marinucci S, Bianco G, Castro M |title=Gastric electric activity assessed by electrogastrography and gastric emptying scintigraphy in adolescents with eating disorders |journal=J. Pediatr. Gastroenterol. Nutr. |volume=37 |issue=1 |pages=35–41 |year=2003 |pmid=12827003 |doi= |url=}}</ref><ref name="pmid981449">{{cite journal |vauthors=Ferholt J, Provence S |title=Diagnosis and treatment of an infant with psychophysiological vomiting |journal=Psychoanal Study Child |volume=31 |issue= |pages=439–59 |year=1976 |pmid=981449 |doi= |url=}}</ref><ref name="pmid17914944">{{cite journal |vauthors=Lee H, Rhee PL, Park EH, Kim JH, Son HJ, Kim JJ, Rhee JC |title=Clinical outcome of rumination syndrome in adults without psychiatric illness: a prospective study |journal=J. Gastroenterol. Hepatol. |volume=22 |issue=11 |pages=1741–7 |year=2007 |pmid=17914944 |doi=10.1111/j.1440-1746.2006.04617.x |url=}}</ref><ref name="pmid9635600">{{cite journal |vauthors=Koskenpato J, Kairemo K, Korppi-Tommola T, Färkkilä M |title=Role of gastric emptying in functional dyspepsia: a scintigraphic study of 94 subjects |journal=Dig. Dis. Sci. |volume=43 |issue=6 |pages=1154–8 |year=1998 |pmid=9635600 |doi= |url=}}</ref><ref name="pmid7658213">{{cite journal |vauthors=Urbain JL, Vekemans MC, Parkman H, Van Cauteren J, Mayeur SM, Van den Maegdenbergh V, Charkes ND, Fisher RS, Malmud LS, De Roo M |title=Dynamic antral scintigraphy to characterize gastric antral motility in functional dyspepsia |journal=J. Nucl. Med. |volume=36 |issue=9 |pages=1579–86 |year=1995 |pmid=7658213 |doi= |url=}}</ref><ref name="pmid20723071">{{cite journal |vauthors=Hejazi RA, Lavenbarg TH, McCallum RW |title=Spectrum of gastric emptying patterns in adult patients with cyclic vomiting syndrome |journal=Neurogastroenterol. Motil. |volume=22 |issue=12 |pages=1298–302, e338 |year=2010 |pmid=20723071 |doi=10.1111/j.1365-2982.2010.01584.x |url=}}</ref><ref name="urlGastric outlet obstruction - an overview | ScienceDirect Topics">{{cite web |url=https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/gastric-outlet-obstruction |title=Gastric outlet obstruction - an overview | ScienceDirect Topics |format= |work= |accessdate=}}</ref><ref name="pmid6370777">{{cite journal |vauthors=Minami H, McCallum RW |title=The physiology and pathophysiology of gastric emptying in humans |journal=Gastroenterology |volume=86 |issue=6 |pages=1592–610 |year=1984 |pmid=6370777 |doi= |url=}}</ref><ref name="pmid2431640">{{cite journal |vauthors=Humphries LL, Adams LJ, Eckfeldt JH, Levitt MD, McClain CJ |title=Hyperamylasemia in patients with eating disorders |journal=Ann. Intern. Med. |volume=106 |issue=1 |pages=50–2 |year=1987 |pmid=2431640 |doi= |url=}}</ref><ref name="pmid2480214">{{cite journal |vauthors=Hempen I, Lehnert P, Fichter M, Teufel J |title=[Hyperamylasemia in anorexia nervosa and bulimia nervosa. Indication of a pancreatic disease?] |language=German |journal=Dtsch. Med. Wochenschr. |volume=114 |issue=49 |pages=1913–6 |year=1989 |pmid=2480214 |doi=10.1055/s-2008-1066848 |url=}}</ref><ref name="pmid19204432">{{cite journal |vauthors=Okada R, Okada A, Okada T, Okada T, Hamajima N |title=Elevated serum lipase levels in patients with dyspepsia of unknown cause in general practice |journal=Med Princ Pract |volume=18 |issue=2 |pages=130–6 |year=2009 |pmid=19204432 |doi=10.1159/000189811 |url=}}</ref><ref name="pmid23198276">{{cite journal |vauthors=Sansone RA, Sansone LA |title=Hoarseness: a sign of self-induced vomiting? |journal=Innov Clin Neurosci |volume=9 |issue=10 |pages=37–41 |year=2012 |pmid=23198276 |pmc=3508961 |doi= |url=}}</ref><ref name="pmid15972301">{{cite journal |vauthors=Tack J, Caenepeel P, Arts J, Lee KJ, Sifrim D, Janssens J |title=Prevalence of acid reflux in functional dyspepsia and its association with symptom profile |journal=Gut |volume=54 |issue=10 |pages=1370–6 |year=2005 |pmid=15972301 |pmc=1774686 |doi=10.1136/gut.2004.053355 |url=}}</ref><ref name="urlgut.bmj.com">{{cite web |url=http://gut.bmj.com/content/gutjnl/early/2005/06/21/gut.2004.053355.full.pdf |title=gut.bmj.com |format= |work= |accessdate=}}</ref><ref name="pmid10490048">{{cite journal |vauthors=Boles RG, Williams JC |title=Mitochondrial disease and cyclic vomiting syndrome |journal=Dig. Dis. Sci. |volume=44 |issue=8 Suppl |pages=103S–107S |year=1999 |pmid=10490048 |doi= |url=}}</ref><ref name="pmid24112485">{{cite journal |vauthors=Ranasinghe WK, Smith M |title=Gastric outlet obstruction with an elevated serum pancreatic lipase secondary to an infraumbilical hernia |journal=Ann R Coll Surg Engl |volume=95 |issue=7 |pages=122–4 |year=2013 |pmid=24112485 |doi=10.1308/003588413X13629960047795 |url=}}</ref><ref name="UiShibusawa2015">{{cite journal|last1=Ui|first1=Takashi|last2=Shibusawa|first2=Hiroyuki|last3=Tsukui|first3=Hidenori|last4=Sakuma|first4=Kazuya|last5=Takahashi|first5=Shuhei|last6=Lefor|first6=Alan K.|last7=Hosoya|first7=Yoshinori|last8=Sata|first8=Naohiro|last9=Yasuda|first9=Yoshikazu|title=Pretreatment of gastric outlet obstruction with pancrelipase: Report of a case|journal=International Journal of Surgery Case Reports|volume=12|year=2015|pages=87–89|issn=22102612|doi=10.1016/j.ijscr.2015.05.023}}</ref>

==[[ Rumination disorder Diagnosis and Evaluation]]==

The Rome IV diagnostic criteria for rumination syndrome are as follows. The following requirements must be satisfied in order for the Rome IV criteria to be satisfied: both adults and kids

●Repeatedly or persistently vomiting previously consumed food into the mouth, followed by swallowing, spitting, or remastication
●Retching does not occur before regurgitation
Additional clinical characteristics that are helpful in supporting the diagnosis of rumination syndrome but are not necessary include:

Rumination stops when the regurgitated material turns acidic. ●Effortless regurgitation episodes often do not include nausea. ●Regurgitant contains identifiable food that may taste good.
The diagnostic criteria for rumination in children are identical, with the exception that it cannot happen when the kid is sleeping or react to conventional reflux medication.

Assessment

History and physical examination: The goal of the history should be to determine if the postprandial symptoms are regurgitation or vomiting, as this is what patients frequently describe. Unlike vomiting, regurgitation is painless, doesn't always cause nausea, and doesn't include heaving or retching beforehand. In people with rumination syndrome, vomiting is not something that can be willingly held in the mouth or re-ingested, in contrast to regurgitate. Before the beginning of rumination symptoms, patients with rumination syndrome frequently recall a triggering event.<ref name="PMID:27144632">{{cite journal |vauthors=Hyams JS|title= Functional Disorders: Children and Adolescents. Gastroenterology. |PMID= 27144632.|url=}}</ref>

Based on their medical history, children and adolescents who exhibit symptoms suggestive of rumination syndrome should have eating disorders ruled out.
Rule out mechanical obstruction: Using upper gastrointestinal endoscopy and, if in doubt, CT/MR enterography, we rule out mechanical obstruction in patients who are suspected of having rumination syndrome.

Rule out mechanical obstruction: Using upper gastrointestinal endoscopy and, if in doubt, CT/MR enterography, we rule out mechanical obstruction in patients who are suspected of having rumination syndrome. In most cases, upper endoscopy results for rumination syndrome patients are normal. Patients may occasionally show signs of esophagitis. To rule out other conditions, such as H. pylori infection, celiac disease, and eosinophilic gastroenteritis, we do biopsies.

High resolution impedance pH manometry: Reflux episodes that extend to the proximal esophagus and are strongly linked to an increase in stomach pressure to >30 mm Hg are diagnostic findings of rumination syndrome on postprandial high resolution impedance manometry.<ref name="PMID:24366235">{{cite journal |vauthors=Kessing BF |title= Objective manometric criteria for the rumination syndrome. |PMID= 24366235.|url=}}</ref> There are no defined normative norms for traditional manometry.

Based on the high resolution manometry pressure pattern, three rumination variations may be identified:

●First rumination: Retrograde flow occurs before a rise in abdominal pressure.
▏Secondary rumination: When a reflux event starts, there's an instant rise in abdominal pressure. ●Supragastric belch-induced rumination: When a supragastric belch occurs, it's immediately followed by a ruminating episode.
Rumination tendencies in children seem to be comparable to those in adults, despite the paucity of research in this area. A diagnostic threshold for retrograde bolus flow into the proximal esophagus, linked to a stomach pressure rise of more than 25 mmHg, has been suggested as the threshold for rumination syndrome in children.
<ref name="PMID:28078818">{{cite journal |vauthors=Singendonk MMJ |title= Objectively diagnosing rumination syndrome in children using esophageal pH-impedance and manometry. Neurogastroenterol Motil |PMID= 28078818.|url=}}</ref> <ref name="PMID:38385686.">{{cite journal |vauthors=Puoti MG |title= he role of high-resolution impedance manometry to identify rumination syndrome in children with unexplained foregut symptoms. Neurogastroenterol Motil |PMID= 38385686.|url=}}</ref>

==[[ Rumination disorder Management]]==

first-hand supervision

Education and treatment of linked mood disorders: Reassurance and education are crucial parts of the first steps in managing rumination syndrome. Enhancing the patient's comprehension of their illness and motivating them to actively participate in their care are the two main goals of education. Gastroenterologists and psychologists must work together in a multidisciplinary manner, particularly when treating patients who have underlying anxiety disorders, depression, or refractory symptoms.

Diaphragmatic (abdominal) breathing: This technique is the cornerstone of treatment for rumination syndrome (figure 2). The gastroesophageal pressure gradient is restored by diaphragmatic breathing, which lowers postprandial intragastric pressure and raises esophagogastric junction zone pressure. By using this method, patients stretch their abdomen and compress their diaphragm to inhale. <ref name="PMID:20763087.">{{cite journal |vauthors=Brockbank EM |title= MERYCISM OR RUMINATION IN MAN. Neurogastroenterol Motil|PMID= 20763087.|url=}}</ref>

Refractory signs and symptoms

Gamma-aminobutyric acid receptor agonist: Baclofen is only used in people whose symptoms don't respond to first-line treatment. A gamma-aminobutyric acid agonist called Baclofen increases the tone of the lower esophageal sphincter and inhibits brief relaxations of it. The effect of baclofen on regurgitation in rumination syndrome has only been assessed in two trials. For a week, baclofen (10 mg three times daily) was administered to sixteen adult patients with clinically suspected rumination syndrome as part of an open-label experiment. Treatment with baclofen was linked to a substantial decrease in the frequency of postprandial flow episodes and symptoms in 12 individuals who finished the research as compared to baseline.<ref name="PMID:22079512.">{{cite journal |vauthors=Blondeau K |title= Baclofen improves symptoms and reduces postprandial flow events in patients with rumination and supragastric belching. Neurogastroenterol Motil |PMID= 22079512.|url=}}</ref>. However, long-term data on efficacy and tolerability are lacking. Baclofen crosses the blood-brain barrier and causes a variety of central nervous system-related side effects. Side-effects primarily include somnolence, confusion, dizziness, lightheadedness, drowsiness, weakness, and trembling. We usually begin by giving 5 to 10 mg at bedtime, which can be increased slowly to 10 mg three times daily while carefully monitoring for side effects.

{| class="wikitable"
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disorder
! colspan="12" align="center" style="background:#4479BA; color: #FFFFFF;" + |Clinical features
! colspan="5" align="center" style="background:#4479BA; color: #FFFFFF;" + |Laboratory findings
|-
|
|'''Chronic nausea'''
|'''Vomiting'''
|'''Diarrhea'''
|'''Retching'''
|'''Lethargy'''
|'''Social withdrawal'''
|'''Photophobia'''
|'''Epigastric pain/burning'''
|'''Lanugo hair'''
|'''Hypogonadism'''
|'''Russel's sign'''
|'''Body mass index (normal range: 18.5 to 24.9)'''
|'''Complete blood count (CBC)'''
|'''Electrolyte imabalance'''
|'''Lipase and amylase levels'''
|'''Gastric scintigraphy'''
|'''Ambulatory esophageal pH and impedance testing'''
|-
|'''Gastroparesis'''
|✔
|✔ (within 1 hour of eating)
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* [[Anemia]]
|✔
|
* Normal (maybe elevated if chronic renal failure is the cause of gastroparesis- usually less than threefold)
|
* '''Periodic measurement of radiolabeled solid meal:'''
** Grade 1 (mild), 11%-20% retention at 4 h
** Grade 2 (moderate), 21%-35% retention at 4 h
** Grade 3 (severe), 36%-50% retention at 4 h
** Grade 4 (very severe), > 50% retention at 4 h
|
* '''Impedance testing (antroduodenal manometery):''' Loss of normal fasting migratory motor complexes (MMCs) and reduced postprandial [[Antrum|antral]] contractions and, in some cases pylorospasm
|-
|'''[[Anorexia nervosa]]'''
|✔
|✔
|✔
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|↓
|
* [[Leukocytosis]], [[anemia]]
|✔
|
*Increased
|
* [[Delayed gastric emptying|Gastric emptying may be delayed]] but may become normal as feeding recommences (short lived)
|
* '''Esophageal pH:''' May be decreased if patient develops [[gastroesophageal reflux disease]]
|-
|'''[[Bulimia nervosa]]'''
|✔
|✔
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|✔
|Normal
|
* [[Leukocytosis]], [[anemia]]
|✔
|
* Increased
|
* [[Delayed gastric emptying|Gastric emptying delayed]] for a longer duration as compared to [[anorexia nervosa]]
|
* '''Esophageal pH:''' May be decreased if patient develops [[gastroesophageal reflux disease]]
|-
|'''[[Rumination syndrome]]'''
|✔
|✔ ([[Regurgitation]] more common- within minutes of meal intake)
|✔
|<nowiki>-</nowiki>
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* Normal
|✔
|
* Normal
|
* [[Delayed gastric emptying]]
|
* '''Esophageal pH:''' Fall in [[esophageal]] pH immediately after reguritation (occurs while patient is awake and erect; this is in contrast to [[Gastroesophageal reflux disease|GERD]], where [[Gastroesophageal reflux disease|reflux]] occurs diurnally and [[supine]] position)

* '''Impedance testing:'''Increased intra-[[abdominal]] pressure leading to [[regurgitation]] of [[gastric]] contents (Tall R waves)
|-
|'''[[Functional dyspepsia]]'''
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|Normal
|
* Normal
|✔
|
* Increased (especially [[lipase]])
|
* [[Delayed gastric emptying]]
|
* '''Esophageal pH:''' May be decreased if patient develops [[Reflux esophagitis|reflux]]
|-
|'''[[Cyclic vomiting syndrome]]'''
|✔
|✔
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* [[Leukocytosis]], [[anemia]]
|✔
|
* Increased (alongwith increased [[lactic acid]] - in cases of concomitant [[mitochondrial disease]])
|
* Rapid or normal
|
* '''Esophageal pH:''' Decreased
|-
|'''[[Pancreatitis]]'''
|✔
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|Normal
|
* [[Leukocytosis]]
|✔
|
* Increased
|
* Not indicated
|
* '''Esophageal pH:''' Normal
|-
|'''[[Gastric outlet obstruction]]'''
|✔
|✔ (within 1 hour of eating)
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* [[Leukocytosis]]
|✔
|
* Increased (in cases of [[pancreatic]] disease)
|
* [[Delayed gastric emptying]]
|
* '''Esophageal pH:''' Increased
* '''Esophageal manometery:''' High manoraetric score
|}

==Other differntials==
Other differentials of rumination disorder include the following:
* [[Gastroesophageal reflux]]
* [[Hiatal hernia]]
* [[Pyloric stenosis]]
* [[Sandifer syndrome]]<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>

==Epidemiology and Demographics==
===Prevalence===
*The prevalence of rumination syndrome is higher among subjects with [[intellectual disability]] compared to the overall population.<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>

==Risk Factors==
* Lack of stimulation
* Neglect
* Problems in the parent-child relationship
* Stressful life situations<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>

==Natural History, Complications and Prognosis==
Rumination disorder typically occurs within the first 3-12 months of age and can lead to the child becoming [[malnourished]].

While rumination disorder may begin in childhood or infancy, adults may also have this chronic disorder, for which there is presently no known cure nor cause. While those diagnosed with this condition in childhood may 'grow out of it', it is by no means a medical fact that they are bound to do so by adolescence or adulthood.

Remission of these episodes is seen in some cases while others persist.

==Diagnostic Criteria==
===DSM-V Diagnostic Criteria for Rumination Disorder<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>===
{{cquote|

*A. Repeated regurgitation of food over a period of at least 1 month. Regurgitated food may be re-chewed, re-swallowed, or spit out.

'''''AND'''''

*B. The repeated regurgitation is not attributable to an associated gastrointestinal or other medical condition (e.g., [[gastroesophageal reflux]], [[pyloric stenosis]]).

'''''AND'''''

*C. The eating disturbance does not occur exclusively during the course of [[anorexia nervosa]],[[bulimia nervosa]], binge-eating disorder, or avoidant/restrictive food intake disorder.

'''''AND'''''

D. If the symptoms occur in the context of another mental disorder (e.g., intellectual disability, [[Intellectual developmental disorder]] or another neuro developmental disorder),they are sufficiently severe to warrant additional clinical attention.

Specify if:

*In remission: After full criteria for rumination disorder were previously met, the criteria have not been met for a sustained period of time.
}}

==References==
{{reflist|2}}

[[Category:Disease]]

Rumination disorder

2024-06-26T23:52:46Z

Rithish Nimmagadda:

__NOTOC__
{{SI}}
{{CMG} ; {{AE}} Mark Warren, M.D., M.P.H.; Fellow, Academy of Eating Disorders [mailto:mwarren@eatingdisorderscleveland.org];{{VSRN}}; {{KS}}

{{SK}} Childhood rumination disorder; merycism, rumination syndrome

==Overview==
Rumination is an [[eating disorder]] characterized by having the contents of the [[stomach]] drawn back up into the [[mouth]], chewed for a second time, and [[swallowing|swallowed]] again. In some animals, known as [[ruminant]]s, this is a natural and healthy part of [[digestion]] and is not considered an eating disorder. However, in other species (including humans), such behavior is atypical and potentially dangerous as the [[esophagus]] can be damaged by frequent exposure to [[stomach]] acids. Rumination is also associated with eating disorders such as anorexia nervosa, and can be the result of one's apprehension and nervousness after eating a normal meal. For those with purging behaviors, rumination can take place when the option of getting rid of a meal via throwing up is not available (thus, one might feel worried and visibly upset). Rumination has also been reported in developmentally normal children and adults who experience regurgitation of previously swallowed food, without disgust, nausea or an acidic taste. The food is either chewed and reswallowed or spat out. Remission of these episodes is seen in some cases while others persist. Many claim this as a pleasurable habit.

==[[ Rumination disorderhistorical perspective|Historical Perspective , Epidemiology and Demographics]]==

prevalence: Both adults and children are susceptible to rumination syndrome. Out of the 2163 children and adolescents questioned for this study, 110 (5%) met the clinical criteria for rumination syndrome. In one research conducted in the United States, the prevalence of rumination was 5.8 percent <ref name="PMID:34774539.">{{cite journal |vauthors=Josefsson A|title= Global Prevalence and Impact of Rumination Syndrome Eur J Brain Pathol. Neurology. |PMID= 34774539.|url=}}</ref>
; in another, almost 50,000 individuals were questioned in 26 nations. Rumination syndrome may affect as many as 7 to 8 percent of people with fibromyalgia or eating problems.<ref name="PMID:19138763.">{{cite journal |vauthors=Almansa C|title= Prevalence of functional gastrointestinal disorders in patients with fibromyalgia and the role of psychologic distress Eur J Brain Pathol. Neurology. |PMID= 19138763.|url=}}</ref> Related disorders: Constipation from a rectal evacuation disorder, anxiety, depression, adjustment disorder, obsessive compulsive disorder, post-traumatic stress disorder, and attention deficit-hyperactivity disorder have all been linked to rumination syndrome. While some research indicates that adults and adolescents with developmental delays are more likely to experience rumination syndrome

==[[ Rumination disorderpathophysiology|Pathophysiology]]==

Although the exact cause of rumination syndrome is unknown, one important pathogenetic characteristic that seems to be present is unperceived abdominal wall activity throughout the postprandial interval. Although the precise cause of this activation of the abdominal wall is unknown, given the similarities between rumination syndrome and functional dyspepsia, it is plausible that postprandial dyspeptic symptoms are the trigger for rumination episodes.<ref name="PMID:34626489.">{{cite journal |vauthors=Zand Irani M|title= Prevalence, symptoms and risk factor profile of rumination syndrome and functional dyspepsia: a population-based study Eur J Brain Pathol. Neurology. |PMID= 34626489.|url=}}</ref>

In individuals with rumination syndrome, a permissive esophagogastric gradient is created by a combination of elevated intra-abdominal pressure and negative intrathoracic pressure, which causes the retrograde flow of eaten gastric material into the mouth. Rumination occurs after stomach pressurizations surpassing 30 mmHg on postprandial esophageal high resolution impedance manometry. This is linked to lower and upper esophageal relaxation during the gastric pressurization. This suggests that malfunctioning of the upper and lower esophageal sphincters is probably involved in rumination and that elevated intra-abdominal pressure alone is not sufficient to explain it.<ref name="PMID:26661735.">{{cite journal |vauthors=Halland M|title= Diaphragmatic breathing for rumination syndrome: efficacy and mechanisms of action. Neurogastroenterol Motil Eur J Brain Pathol. Neurology. |PMID= 26661735.|url=}}</ref>

It is believed that the activation of the muscles in the abdominal wall is what causes this surge in intraluminal pressure. During electromyography recordings, postprandial abdominal wall activity has also been noted; this activation is correlated with bouts of regurgitation. <ref name="PMID:27185077..">{{cite journal |vauthors=Barba E|title= Randomized, Placebo-Controlled Trial of Biofeedback for the Treatment of Rumination Eur J Brain Pathol. Neurology. |PMID= 27185077.|url=}}</ref> <ref name="PMID:24768808">{{cite journal |vauthors=Barba E|title= Biofeedback-guided control of abdominothoracic muscular activity reduces regurgitation episodes in patients with rumination. |PMID= 24768808|url=}}</ref>

==[[ Rumination disordercauses|Clinical features]]==

The hallmark of rumination syndrome is fast regurgitation, typically starting within ten minutes of meal completion. Episodes often last for one to two hours following the meal, and the regurgitant is made up of partly digested food that tastes similar to what was really swallowed. Easy to perform, regurgitation is frequently caused by an abdominal ache, pressure, or burning feeling that has to be eased.

Retching is not typically seen before an episode. Consciously, the content is regurgitated or reabsorbed. Regurgitation happens usually, if not always, after eating. In order to make up for this, patients frequently modify their eating habits and may stop eating in public.

Patients often express nausea and dyspepsia symptoms such as burning or fullness in the stomach, and there is almost a four-fold increased likelihood of overlap between rumination syndrome and functional dyspepsia than would be predicted by chance. It is unusual to have overt discomfort. About 20 to 40 percent of patients have shown signs of weight reduction. In the absence of a co-occurring eating problem, significant weight loss, electrolyte imbalances, tooth erosions, and malnutrition are uncommon. <ref name="PMID:27185077">{{cite journal |vauthors=Barba E|title= Randomized, Placebo-Controlled Trial of Biofeedback for the Treatment of Rumination. |PMID= 27185077.|url=}}</ref> <ref name="PMID:26661735.">{{cite journal |vauthors=Halland M|title= Diaphragmatic breathing for rumination syndrome: efficacy and mechanisms of action. Neurogastroenterol Motil. |PMID= 26661735.|url=}}</ref> <ref name="PMID:23173868.">{{cite journal |vauthors=Tucker E|title= Rumination variations: aetiology and classification of abnormal behavioural responses to digestive symptoms based on high-resolution manometry studies. |PMID= 23173868.|url=}}</ref>

==[[ Rumination disorderdifferential diagnosis|Differentiating Rumination disorderfrom other Diseases]]==

Rumination syndrome should be differentiated from other diseases that cause chronic [[nausea and vomiting]]. The differentials include the following:<ref name="pmid25667023">{{cite journal |vauthors=Parkman HP |title=Idiopathic gastroparesis |journal=Gastroenterol. Clin. North Am. |volume=44 |issue=1 |pages=59–68 |year=2015 |pmid=25667023 |pmc=4324534 |doi=10.1016/j.gtc.2014.11.015 |url=}}</ref><ref name="pmid17015559">{{cite journal |vauthors=Werlin SL, Fish DL |title=The spectrum of valproic acid-associated pancreatitis |journal=Pediatrics |volume=118 |issue=4 |pages=1660–3 |year=2006 |pmid=17015559 |doi=10.1542/peds.2006-1182 |url=}}</ref><ref name="pmid16369243">{{cite journal |vauthors=Noddin L, Callahan M, Lacy BE |title=Irritable bowel syndrome and functional dyspepsia: different diseases or a single disorder with different manifestations? |journal=MedGenMed |volume=7 |issue=3 |pages=17 |year=2005 |pmid=16369243 |pmc=1681633 |doi= |url=}}</ref><ref name="pmid23226859">{{cite journal |vauthors=Gupta R, Kalla M, Gupta JB |title=Adult rumination syndrome: Differentiation from psychogenic intractable vomiting |journal=Indian J Psychiatry |volume=54 |issue=3 |pages=283–5 |year=2012 |pmid=23226859 |pmc=3512372 |doi=10.4103/0019-5545.102434 |url=}}</ref><ref name="urlBody weight in bulimia nervosa | SpringerLink">{{cite web |url=https://link.springer.com/article/10.1007/BF03339730 |title=Body weight in bulimia nervosa | SpringerLink |format= |work= |accessdate=}}</ref><ref name="pmid25904280">{{cite journal |vauthors=Sağlam F, Sivrikoz E, Alemdar A, Kamalı S, Arslan U, Güven H |title=Bouveret syndrome: A fatal diagnostic dilemma of gastric outlet obstruction |journal=Ulus Travma Acil Cerrahi Derg |volume=21 |issue=2 |pages=157–9 |year=2015 |pmid=25904280 |doi= |url=}}</ref><ref name="pmid21475419">{{cite journal |vauthors=Talley NJ |title=Rumination syndrome |journal=Gastroenterol Hepatol (N Y) |volume=7 |issue=2 |pages=117–8 |year=2011 |pmid=21475419 |pmc=3061016 |doi= |url=}}</ref><ref name="pmid15067630">{{cite journal |vauthors=Tutuian R, Castell DO |title=Rumination documented by using combined multichannel intraluminal impedance and manometry |journal=Clin. Gastroenterol. Hepatol. |volume=2 |issue=4 |pages=340–3 |year=2004 |pmid=15067630 |doi= |url=}}</ref><ref name="pmid24921208">{{cite journal |vauthors=Kessing BF, Smout AJ, Bredenoord AJ |title=Current diagnosis and management of the rumination syndrome |journal=J. Clin. Gastroenterol. |volume=48 |issue=6 |pages=478–83 |year=2014 |pmid=24921208 |doi=10.1097/MCG.0000000000000142 |url=}}</ref><ref name="pmid19232280">{{cite journal |vauthors=Parkman HP |title=Assessment of gastric emptying and small-bowel motility: scintigraphy, breath tests, manometry, and SmartPill |journal=Gastrointest. Endosc. Clin. N. Am. |volume=19 |issue=1 |pages=49–55, vi |year=2009 |pmid=19232280 |doi=10.1016/j.giec.2008.12.003 |url=}}</ref><ref name="pmid19115465">{{cite journal |vauthors=Waseem S, Moshiree B, Draganov PV |title=Gastroparesis: current diagnostic challenges and management considerations |journal=World J. Gastroenterol. |volume=15 |issue=1 |pages=25–37 |year=2009 |pmid=19115465 |pmc=2653292 |doi= |url=}}</ref><ref name="pmid3699409">{{cite journal |vauthors=Mearin F, Camilleri M, Malagelada JR |title=Pyloric dysfunction in diabetics with recurrent nausea and vomiting |journal=Gastroenterology |volume=90 |issue=6 |pages=1919–25 |year=1986 |pmid=3699409 |doi= |url=}}</ref><ref name="pmid18028513">{{cite journal |vauthors=Abell TL, Camilleri M, Donohoe K, Hasler WL, Lin HC, Maurer AH, McCallum RW, Nowak T, Nusynowitz ML, Parkman HP, Shreve P, Szarka LA, Snape WJ, Ziessman HA |title=Consensus recommendations for gastric emptying scintigraphy: a joint report of the American Neurogastroenterology and Motility Society and the Society of Nuclear Medicine |journal=Am. J. Gastroenterol. |volume=103 |issue=3 |pages=753–63 |year=2008 |pmid=18028513 |doi=10.1111/j.1572-0241.2007.01636.x |url=}}</ref><ref name="pmid12014357">{{cite journal |vauthors=Jiang CF, Ng KW, Tan SW, Wu CS, Chen HC, Liang CT, Chen YH |title=Serum level of amylase and lipase in various stages of chronic renal insufficiency |journal=Zhonghua Yi Xue Za Zhi (Taipei) |volume=65 |issue=2 |pages=49–54 |year=2002 |pmid=12014357 |doi= |url=}}</ref><ref name="SzmuklerYoung1990">{{cite journal|last1=Szmukler|first1=G. I.|last2=Young|first2=G. P.|last3=Lichtenstein|first3=M.|last4=Andrews|first4=J. T.|title=A serial study of gastric emptying in anorexia nervosa and bulimia|journal=Australian and New Zealand Journal of Medicine|volume=20|issue=3|year=1990|pages=220–225|issn=00048291|doi=10.1111/j.1445-5994.1990.tb01023.x}}</ref><ref name="pmid12827003">{{cite journal |vauthors=Diamanti A, Bracci F, Gambarara M, Ciofetta GC, Sabbi T, Ponticelli A, Montecchi F, Marinucci S, Bianco G, Castro M |title=Gastric electric activity assessed by electrogastrography and gastric emptying scintigraphy in adolescents with eating disorders |journal=J. Pediatr. Gastroenterol. Nutr. |volume=37 |issue=1 |pages=35–41 |year=2003 |pmid=12827003 |doi= |url=}}</ref><ref name="pmid981449">{{cite journal |vauthors=Ferholt J, Provence S |title=Diagnosis and treatment of an infant with psychophysiological vomiting |journal=Psychoanal Study Child |volume=31 |issue= |pages=439–59 |year=1976 |pmid=981449 |doi= |url=}}</ref><ref name="pmid17914944">{{cite journal |vauthors=Lee H, Rhee PL, Park EH, Kim JH, Son HJ, Kim JJ, Rhee JC |title=Clinical outcome of rumination syndrome in adults without psychiatric illness: a prospective study |journal=J. Gastroenterol. Hepatol. |volume=22 |issue=11 |pages=1741–7 |year=2007 |pmid=17914944 |doi=10.1111/j.1440-1746.2006.04617.x |url=}}</ref><ref name="pmid9635600">{{cite journal |vauthors=Koskenpato J, Kairemo K, Korppi-Tommola T, Färkkilä M |title=Role of gastric emptying in functional dyspepsia: a scintigraphic study of 94 subjects |journal=Dig. Dis. Sci. |volume=43 |issue=6 |pages=1154–8 |year=1998 |pmid=9635600 |doi= |url=}}</ref><ref name="pmid7658213">{{cite journal |vauthors=Urbain JL, Vekemans MC, Parkman H, Van Cauteren J, Mayeur SM, Van den Maegdenbergh V, Charkes ND, Fisher RS, Malmud LS, De Roo M |title=Dynamic antral scintigraphy to characterize gastric antral motility in functional dyspepsia |journal=J. Nucl. Med. |volume=36 |issue=9 |pages=1579–86 |year=1995 |pmid=7658213 |doi= |url=}}</ref><ref name="pmid20723071">{{cite journal |vauthors=Hejazi RA, Lavenbarg TH, McCallum RW |title=Spectrum of gastric emptying patterns in adult patients with cyclic vomiting syndrome |journal=Neurogastroenterol. Motil. |volume=22 |issue=12 |pages=1298–302, e338 |year=2010 |pmid=20723071 |doi=10.1111/j.1365-2982.2010.01584.x |url=}}</ref><ref name="urlGastric outlet obstruction - an overview | ScienceDirect Topics">{{cite web |url=https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/gastric-outlet-obstruction |title=Gastric outlet obstruction - an overview | ScienceDirect Topics |format= |work= |accessdate=}}</ref><ref name="pmid6370777">{{cite journal |vauthors=Minami H, McCallum RW |title=The physiology and pathophysiology of gastric emptying in humans |journal=Gastroenterology |volume=86 |issue=6 |pages=1592–610 |year=1984 |pmid=6370777 |doi= |url=}}</ref><ref name="pmid2431640">{{cite journal |vauthors=Humphries LL, Adams LJ, Eckfeldt JH, Levitt MD, McClain CJ |title=Hyperamylasemia in patients with eating disorders |journal=Ann. Intern. Med. |volume=106 |issue=1 |pages=50–2 |year=1987 |pmid=2431640 |doi= |url=}}</ref><ref name="pmid2480214">{{cite journal |vauthors=Hempen I, Lehnert P, Fichter M, Teufel J |title=[Hyperamylasemia in anorexia nervosa and bulimia nervosa. Indication of a pancreatic disease?] |language=German |journal=Dtsch. Med. Wochenschr. |volume=114 |issue=49 |pages=1913–6 |year=1989 |pmid=2480214 |doi=10.1055/s-2008-1066848 |url=}}</ref><ref name="pmid19204432">{{cite journal |vauthors=Okada R, Okada A, Okada T, Okada T, Hamajima N |title=Elevated serum lipase levels in patients with dyspepsia of unknown cause in general practice |journal=Med Princ Pract |volume=18 |issue=2 |pages=130–6 |year=2009 |pmid=19204432 |doi=10.1159/000189811 |url=}}</ref><ref name="pmid23198276">{{cite journal |vauthors=Sansone RA, Sansone LA |title=Hoarseness: a sign of self-induced vomiting? |journal=Innov Clin Neurosci |volume=9 |issue=10 |pages=37–41 |year=2012 |pmid=23198276 |pmc=3508961 |doi= |url=}}</ref><ref name="pmid15972301">{{cite journal |vauthors=Tack J, Caenepeel P, Arts J, Lee KJ, Sifrim D, Janssens J |title=Prevalence of acid reflux in functional dyspepsia and its association with symptom profile |journal=Gut |volume=54 |issue=10 |pages=1370–6 |year=2005 |pmid=15972301 |pmc=1774686 |doi=10.1136/gut.2004.053355 |url=}}</ref><ref name="urlgut.bmj.com">{{cite web |url=http://gut.bmj.com/content/gutjnl/early/2005/06/21/gut.2004.053355.full.pdf |title=gut.bmj.com |format= |work= |accessdate=}}</ref><ref name="pmid10490048">{{cite journal |vauthors=Boles RG, Williams JC |title=Mitochondrial disease and cyclic vomiting syndrome |journal=Dig. Dis. Sci. |volume=44 |issue=8 Suppl |pages=103S–107S |year=1999 |pmid=10490048 |doi= |url=}}</ref><ref name="pmid24112485">{{cite journal |vauthors=Ranasinghe WK, Smith M |title=Gastric outlet obstruction with an elevated serum pancreatic lipase secondary to an infraumbilical hernia |journal=Ann R Coll Surg Engl |volume=95 |issue=7 |pages=122–4 |year=2013 |pmid=24112485 |doi=10.1308/003588413X13629960047795 |url=}}</ref><ref name="UiShibusawa2015">{{cite journal|last1=Ui|first1=Takashi|last2=Shibusawa|first2=Hiroyuki|last3=Tsukui|first3=Hidenori|last4=Sakuma|first4=Kazuya|last5=Takahashi|first5=Shuhei|last6=Lefor|first6=Alan K.|last7=Hosoya|first7=Yoshinori|last8=Sata|first8=Naohiro|last9=Yasuda|first9=Yoshikazu|title=Pretreatment of gastric outlet obstruction with pancrelipase: Report of a case|journal=International Journal of Surgery Case Reports|volume=12|year=2015|pages=87–89|issn=22102612|doi=10.1016/j.ijscr.2015.05.023}}</ref>

==[[ Rumination disorder Diagnosis and Evaluation]]==

The Rome IV diagnostic criteria for rumination syndrome are as follows. The following requirements must be satisfied in order for the Rome IV criteria to be satisfied: both adults and kids

●Repeatedly or persistently vomiting previously consumed food into the mouth, followed by swallowing, spitting, or remastication
●Retching does not occur before regurgitation
Additional clinical characteristics that are helpful in supporting the diagnosis of rumination syndrome but are not necessary include:

Rumination stops when the regurgitated material turns acidic. ●Effortless regurgitation episodes often do not include nausea. ●Regurgitant contains identifiable food that may taste good.
The diagnostic criteria for rumination in children are identical, with the exception that it cannot happen when the kid is sleeping or react to conventional reflux medication.

Assessment

History and physical examination: The goal of the history should be to determine if the postprandial symptoms are regurgitation or vomiting, as this is what patients frequently describe. Unlike vomiting, regurgitation is painless, doesn't always cause nausea, and doesn't include heaving or retching beforehand. In people with rumination syndrome, vomiting is not something that can be willingly held in the mouth or re-ingested, in contrast to regurgitate. Before the beginning of rumination symptoms, patients with rumination syndrome frequently recall a triggering event.<ref name="PMID:27144632">{{cite journal |vauthors=Hyams JS|title= Functional Disorders: Children and Adolescents. Gastroenterology. |PMID= 27144632.|url=}}</ref>

Based on their medical history, children and adolescents who exhibit symptoms suggestive of rumination syndrome should have eating disorders ruled out.
Rule out mechanical obstruction: Using upper gastrointestinal endoscopy and, if in doubt, CT/MR enterography, we rule out mechanical obstruction in patients who are suspected of having rumination syndrome.

Rule out mechanical obstruction: Using upper gastrointestinal endoscopy and, if in doubt, CT/MR enterography, we rule out mechanical obstruction in patients who are suspected of having rumination syndrome. In most cases, upper endoscopy results for rumination syndrome patients are normal. Patients may occasionally show signs of esophagitis. To rule out other conditions, such as H. pylori infection, celiac disease, and eosinophilic gastroenteritis, we do biopsies.

High resolution impedance pH manometry: Reflux episodes that extend to the proximal esophagus and are strongly linked to an increase in stomach pressure to >30 mm Hg are diagnostic findings of rumination syndrome on postprandial high resolution impedance manometry.<ref name="PMID:24366235">{{cite journal |vauthors=Kessing BF |title= Objective manometric criteria for the rumination syndrome. |PMID= 24366235.|url=}}</ref> There are no defined normative norms for traditional manometry.

Based on the high resolution manometry pressure pattern, three rumination variations may be identified:

●First rumination: Retrograde flow occurs before a rise in abdominal pressure.
▏Secondary rumination: When a reflux event starts, there's an instant rise in abdominal pressure. ●Supragastric belch-induced rumination: When a supragastric belch occurs, it's immediately followed by a ruminating episode.
Rumination tendencies in children seem to be comparable to those in adults, despite the paucity of research in this area. A diagnostic threshold for retrograde bolus flow into the proximal esophagus, linked to a stomach pressure rise of more than 25 mmHg, has been suggested as the threshold for rumination syndrome in children.
<ref name="PMID:28078818">{{cite journal |vauthors=Singendonk MMJ |title= Objectively diagnosing rumination syndrome in children using esophageal pH-impedance and manometry. Neurogastroenterol Motil |PMID= 28078818.|url=}}</ref> <ref name="PMID:38385686.">{{cite journal |vauthors=Puoti MG |title= he role of high-resolution impedance manometry to identify rumination syndrome in children with unexplained foregut symptoms. Neurogastroenterol Motil |PMID= 38385686.|url=}}</ref>

==[[ Rumination disorder Management]]==

first-hand supervision

Education and treatment of linked mood disorders: Reassurance and education are crucial parts of the first steps in managing rumination syndrome. Enhancing the patient's comprehension of their illness and motivating them to actively participate in their care are the two main goals of education. Gastroenterologists and psychologists must work together in a multidisciplinary manner, particularly when treating patients who have underlying anxiety disorders, depression, or refractory symptoms.

Diaphragmatic (abdominal) breathing: This technique is the cornerstone of treatment for rumination syndrome (figure 2). The gastroesophageal pressure gradient is restored by diaphragmatic breathing, which lowers postprandial intragastric pressure and raises esophagogastric junction zone pressure. By using this method, patients stretch their abdomen and compress their diaphragm to inhale. <ref name="PMID:20763087.">{{cite journal |vauthors=Brockbank EM |title= MERYCISM OR RUMINATION IN MAN. Neurogastroenterol Motil|PMID= 20763087.|url=}}</ref>

Refractory signs and symptoms

Gamma-aminobutyric acid receptor agonist: Baclofen is only used in people whose symptoms don't respond to first-line treatment. A gamma-aminobutyric acid agonist called Baclofen increases the tone of the lower esophageal sphincter and inhibits brief relaxations of it. The effect of baclofen on regurgitation in rumination syndrome has only been assessed in two trials. For a week, baclofen (10 mg three times daily) was administered to sixteen adult patients with clinically suspected rumination syndrome as part of an open-label experiment. Treatment with baclofen was linked to a substantial decrease in the frequency of postprandial flow episodes and symptoms in 12 individuals who finished the research as compared to baseline.<ref name="PMID:22079512.">{{cite journal |vauthors=Blondeau K |title= Baclofen improves symptoms and reduces postprandial flow events in patients with rumination and supragastric belching. Neurogastroenterol Motil |PMID= 22079512.|url=}}</ref>. However, long-term data on efficacy and tolerability are lacking. Baclofen crosses the blood-brain barrier and causes a variety of central nervous system-related side effects. Side-effects primarily include somnolence, confusion, dizziness, lightheadedness, drowsiness, weakness, and trembling. We usually begin by giving 5 to 10 mg at bedtime, which can be increased slowly to 10 mg three times daily while carefully monitoring for side effects.

{| class="wikitable"
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disorder
! colspan="12" align="center" style="background:#4479BA; color: #FFFFFF;" + |Clinical features
! colspan="5" align="center" style="background:#4479BA; color: #FFFFFF;" + |Laboratory findings
|-
|
|'''Chronic nausea'''
|'''Vomiting'''
|'''Diarrhea'''
|'''Retching'''
|'''Lethargy'''
|'''Social withdrawal'''
|'''Photophobia'''
|'''Epigastric pain/burning'''
|'''Lanugo hair'''
|'''Hypogonadism'''
|'''Russel's sign'''
|'''Body mass index (normal range: 18.5 to 24.9)'''
|'''Complete blood count (CBC)'''
|'''Electrolyte imabalance'''
|'''Lipase and amylase levels'''
|'''Gastric scintigraphy'''
|'''Ambulatory esophageal pH and impedance testing'''
|-
|'''Gastroparesis'''
|✔
|✔ (within 1 hour of eating)
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* [[Anemia]]
|✔
|
* Normal (maybe elevated if chronic renal failure is the cause of gastroparesis- usually less than threefold)
|
* '''Periodic measurement of radiolabeled solid meal:'''
** Grade 1 (mild), 11%-20% retention at 4 h
** Grade 2 (moderate), 21%-35% retention at 4 h
** Grade 3 (severe), 36%-50% retention at 4 h
** Grade 4 (very severe), > 50% retention at 4 h
|
* '''Impedance testing (antroduodenal manometery):''' Loss of normal fasting migratory motor complexes (MMCs) and reduced postprandial [[Antrum|antral]] contractions and, in some cases pylorospasm
|-
|'''[[Anorexia nervosa]]'''
|✔
|✔
|✔
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|↓
|
* [[Leukocytosis]], [[anemia]]
|✔
|
*Increased
|
* [[Delayed gastric emptying|Gastric emptying may be delayed]] but may become normal as feeding recommences (short lived)
|
* '''Esophageal pH:''' May be decreased if patient develops [[gastroesophageal reflux disease]]
|-
|'''[[Bulimia nervosa]]'''
|✔
|✔
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|✔
|Normal
|
* [[Leukocytosis]], [[anemia]]
|✔
|
* Increased
|
* [[Delayed gastric emptying|Gastric emptying delayed]] for a longer duration as compared to [[anorexia nervosa]]
|
* '''Esophageal pH:''' May be decreased if patient develops [[gastroesophageal reflux disease]]
|-
|'''[[Rumination syndrome]]'''
|✔
|✔ ([[Regurgitation]] more common- within minutes of meal intake)
|✔
|<nowiki>-</nowiki>
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* Normal
|✔
|
* Normal
|
* [[Delayed gastric emptying]]
|
* '''Esophageal pH:''' Fall in [[esophageal]] pH immediately after reguritation (occurs while patient is awake and erect; this is in contrast to [[Gastroesophageal reflux disease|GERD]], where [[Gastroesophageal reflux disease|reflux]] occurs diurnally and [[supine]] position)

* '''Impedance testing:'''Increased intra-[[abdominal]] pressure leading to [[regurgitation]] of [[gastric]] contents (Tall R waves)
|-
|'''[[Functional dyspepsia]]'''
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|Normal
|
* Normal
|✔
|
* Increased (especially [[lipase]])
|
* [[Delayed gastric emptying]]
|
* '''Esophageal pH:''' May be decreased if patient develops [[Reflux esophagitis|reflux]]
|-
|'''[[Cyclic vomiting syndrome]]'''
|✔
|✔
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* [[Leukocytosis]], [[anemia]]
|✔
|
* Increased (alongwith increased [[lactic acid]] - in cases of concomitant [[mitochondrial disease]])
|
* Rapid or normal
|
* '''Esophageal pH:''' Decreased
|-
|'''[[Pancreatitis]]'''
|✔
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|Normal
|
* [[Leukocytosis]]
|✔
|
* Increased
|
* Not indicated
|
* '''Esophageal pH:''' Normal
|-
|'''[[Gastric outlet obstruction]]'''
|✔
|✔ (within 1 hour of eating)
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* [[Leukocytosis]]
|✔
|
* Increased (in cases of [[pancreatic]] disease)
|
* [[Delayed gastric emptying]]
|
* '''Esophageal pH:''' Increased
* '''Esophageal manometery:''' High manoraetric score
|}

==Other differntials==
Other differentials of rumination disorder include the following:
* [[Gastroesophageal reflux]]
* [[Hiatal hernia]]
* [[Pyloric stenosis]]
* [[Sandifer syndrome]]<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>

==Epidemiology and Demographics==
===Prevalence===
*The prevalence of rumination syndrome is higher among subjects with [[intellectual disability]] compared to the overall population.<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>

==Risk Factors==
* Lack of stimulation
* Neglect
* Problems in the parent-child relationship
* Stressful life situations<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>

==Natural History, Complications and Prognosis==
Rumination disorder typically occurs within the first 3-12 months of age and can lead to the child becoming [[malnourished]].

While rumination disorder may begin in childhood or infancy, adults may also have this chronic disorder, for which there is presently no known cure nor cause. While those diagnosed with this condition in childhood may 'grow out of it', it is by no means a medical fact that they are bound to do so by adolescence or adulthood.

Remission of these episodes is seen in some cases while others persist.

==Diagnostic Criteria==
===DSM-V Diagnostic Criteria for Rumination Disorder<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>===
{{cquote|

*A. Repeated regurgitation of food over a period of at least 1 month. Regurgitated food may be re-chewed, re-swallowed, or spit out.

'''''AND'''''

*B. The repeated regurgitation is not attributable to an associated gastrointestinal or other medical condition (e.g., [[gastroesophageal reflux]], [[pyloric stenosis]]).

'''''AND'''''

*C. The eating disturbance does not occur exclusively during the course of [[anorexia nervosa]],[[bulimia nervosa]], binge-eating disorder, or avoidant/restrictive food intake disorder.

'''''AND'''''

D. If the symptoms occur in the context of another mental disorder (e.g., intellectual disability, [[Intellectual developmental disorder]] or another neuro developmental disorder),they are sufficiently severe to warrant additional clinical attention.

Specify if:

*In remission: After full criteria for rumination disorder were previously met, the criteria have not been met for a sustained period of time.
}}

==References==
{{reflist|2}}

[[Category:Disease]]

Rumination disorder

2024-06-26T23:50:56Z

Rithish Nimmagadda:

__NOTOC__
{{SI}}
{{CMG}}; {{AE}} Mark Warren, M.D., M.P.H.; Fellow, Academy of Eating Disorders [mailto:mwarren@eatingdisorderscleveland.org]; {{KS}} ; {{VSRN}}

{{SK}} Childhood rumination disorder; merycism, rumination syndrome

==Overview==
Rumination is an [[eating disorder]] characterized by having the contents of the [[stomach]] drawn back up into the [[mouth]], chewed for a second time, and [[swallowing|swallowed]] again. In some animals, known as [[ruminant]]s, this is a natural and healthy part of [[digestion]] and is not considered an eating disorder. However, in other species (including humans), such behavior is atypical and potentially dangerous as the [[esophagus]] can be damaged by frequent exposure to [[stomach]] acids. Rumination is also associated with eating disorders such as anorexia nervosa, and can be the result of one's apprehension and nervousness after eating a normal meal. For those with purging behaviors, rumination can take place when the option of getting rid of a meal via throwing up is not available (thus, one might feel worried and visibly upset). Rumination has also been reported in developmentally normal children and adults who experience regurgitation of previously swallowed food, without disgust, nausea or an acidic taste. The food is either chewed and reswallowed or spat out. Remission of these episodes is seen in some cases while others persist. Many claim this as a pleasurable habit.

==Differential Diagnosis==
Rumination syndrome should be differentiated from other diseases that cause chronic [[nausea and vomiting]]. The differentials include the following:<ref name="pmid25667023">{{cite journal |vauthors=Parkman HP |title=Idiopathic gastroparesis |journal=Gastroenterol. Clin. North Am. |volume=44 |issue=1 |pages=59–68 |year=2015 |pmid=25667023 |pmc=4324534 |doi=10.1016/j.gtc.2014.11.015 |url=}}</ref><ref name="pmid17015559">{{cite journal |vauthors=Werlin SL, Fish DL |title=The spectrum of valproic acid-associated pancreatitis |journal=Pediatrics |volume=118 |issue=4 |pages=1660–3 |year=2006 |pmid=17015559 |doi=10.1542/peds.2006-1182 |url=}}</ref><ref name="pmid16369243">{{cite journal |vauthors=Noddin L, Callahan M, Lacy BE |title=Irritable bowel syndrome and functional dyspepsia: different diseases or a single disorder with different manifestations? |journal=MedGenMed |volume=7 |issue=3 |pages=17 |year=2005 |pmid=16369243 |pmc=1681633 |doi= |url=}}</ref><ref name="pmid23226859">{{cite journal |vauthors=Gupta R, Kalla M, Gupta JB |title=Adult rumination syndrome: Differentiation from psychogenic intractable vomiting |journal=Indian J Psychiatry |volume=54 |issue=3 |pages=283–5 |year=2012 |pmid=23226859 |pmc=3512372 |doi=10.4103/0019-5545.102434 |url=}}</ref><ref name="urlBody weight in bulimia nervosa | SpringerLink">{{cite web |url=https://link.springer.com/article/10.1007/BF03339730 |title=Body weight in bulimia nervosa | SpringerLink |format= |work= |accessdate=}}</ref><ref name="pmid25904280">{{cite journal |vauthors=Sağlam F, Sivrikoz E, Alemdar A, Kamalı S, Arslan U, Güven H |title=Bouveret syndrome: A fatal diagnostic dilemma of gastric outlet obstruction |journal=Ulus Travma Acil Cerrahi Derg |volume=21 |issue=2 |pages=157–9 |year=2015 |pmid=25904280 |doi= |url=}}</ref><ref name="pmid21475419">{{cite journal |vauthors=Talley NJ |title=Rumination syndrome |journal=Gastroenterol Hepatol (N Y) |volume=7 |issue=2 |pages=117–8 |year=2011 |pmid=21475419 |pmc=3061016 |doi= |url=}}</ref><ref name="pmid15067630">{{cite journal |vauthors=Tutuian R, Castell DO |title=Rumination documented by using combined multichannel intraluminal impedance and manometry |journal=Clin. Gastroenterol. Hepatol. |volume=2 |issue=4 |pages=340–3 |year=2004 |pmid=15067630 |doi= |url=}}</ref><ref name="pmid24921208">{{cite journal |vauthors=Kessing BF, Smout AJ, Bredenoord AJ |title=Current diagnosis and management of the rumination syndrome |journal=J. Clin. Gastroenterol. |volume=48 |issue=6 |pages=478–83 |year=2014 |pmid=24921208 |doi=10.1097/MCG.0000000000000142 |url=}}</ref><ref name="pmid19232280">{{cite journal |vauthors=Parkman HP |title=Assessment of gastric emptying and small-bowel motility: scintigraphy, breath tests, manometry, and SmartPill |journal=Gastrointest. Endosc. Clin. N. Am. |volume=19 |issue=1 |pages=49–55, vi |year=2009 |pmid=19232280 |doi=10.1016/j.giec.2008.12.003 |url=}}</ref><ref name="pmid19115465">{{cite journal |vauthors=Waseem S, Moshiree B, Draganov PV |title=Gastroparesis: current diagnostic challenges and management considerations |journal=World J. Gastroenterol. |volume=15 |issue=1 |pages=25–37 |year=2009 |pmid=19115465 |pmc=2653292 |doi= |url=}}</ref><ref name="pmid3699409">{{cite journal |vauthors=Mearin F, Camilleri M, Malagelada JR |title=Pyloric dysfunction in diabetics with recurrent nausea and vomiting |journal=Gastroenterology |volume=90 |issue=6 |pages=1919–25 |year=1986 |pmid=3699409 |doi= |url=}}</ref><ref name="pmid18028513">{{cite journal |vauthors=Abell TL, Camilleri M, Donohoe K, Hasler WL, Lin HC, Maurer AH, McCallum RW, Nowak T, Nusynowitz ML, Parkman HP, Shreve P, Szarka LA, Snape WJ, Ziessman HA |title=Consensus recommendations for gastric emptying scintigraphy: a joint report of the American Neurogastroenterology and Motility Society and the Society of Nuclear Medicine |journal=Am. J. Gastroenterol. |volume=103 |issue=3 |pages=753–63 |year=2008 |pmid=18028513 |doi=10.1111/j.1572-0241.2007.01636.x |url=}}</ref><ref name="pmid12014357">{{cite journal |vauthors=Jiang CF, Ng KW, Tan SW, Wu CS, Chen HC, Liang CT, Chen YH |title=Serum level of amylase and lipase in various stages of chronic renal insufficiency |journal=Zhonghua Yi Xue Za Zhi (Taipei) |volume=65 |issue=2 |pages=49–54 |year=2002 |pmid=12014357 |doi= |url=}}</ref><ref name="SzmuklerYoung1990">{{cite journal|last1=Szmukler|first1=G. I.|last2=Young|first2=G. P.|last3=Lichtenstein|first3=M.|last4=Andrews|first4=J. T.|title=A serial study of gastric emptying in anorexia nervosa and bulimia|journal=Australian and New Zealand Journal of Medicine|volume=20|issue=3|year=1990|pages=220–225|issn=00048291|doi=10.1111/j.1445-5994.1990.tb01023.x}}</ref><ref name="pmid12827003">{{cite journal |vauthors=Diamanti A, Bracci F, Gambarara M, Ciofetta GC, Sabbi T, Ponticelli A, Montecchi F, Marinucci S, Bianco G, Castro M |title=Gastric electric activity assessed by electrogastrography and gastric emptying scintigraphy in adolescents with eating disorders |journal=J. Pediatr. Gastroenterol. Nutr. |volume=37 |issue=1 |pages=35–41 |year=2003 |pmid=12827003 |doi= |url=}}</ref><ref name="pmid981449">{{cite journal |vauthors=Ferholt J, Provence S |title=Diagnosis and treatment of an infant with psychophysiological vomiting |journal=Psychoanal Study Child |volume=31 |issue= |pages=439–59 |year=1976 |pmid=981449 |doi= |url=}}</ref><ref name="pmid17914944">{{cite journal |vauthors=Lee H, Rhee PL, Park EH, Kim JH, Son HJ, Kim JJ, Rhee JC |title=Clinical outcome of rumination syndrome in adults without psychiatric illness: a prospective study |journal=J. Gastroenterol. Hepatol. |volume=22 |issue=11 |pages=1741–7 |year=2007 |pmid=17914944 |doi=10.1111/j.1440-1746.2006.04617.x |url=}}</ref><ref name="pmid9635600">{{cite journal |vauthors=Koskenpato J, Kairemo K, Korppi-Tommola T, Färkkilä M |title=Role of gastric emptying in functional dyspepsia: a scintigraphic study of 94 subjects |journal=Dig. Dis. Sci. |volume=43 |issue=6 |pages=1154–8 |year=1998 |pmid=9635600 |doi= |url=}}</ref><ref name="pmid7658213">{{cite journal |vauthors=Urbain JL, Vekemans MC, Parkman H, Van Cauteren J, Mayeur SM, Van den Maegdenbergh V, Charkes ND, Fisher RS, Malmud LS, De Roo M |title=Dynamic antral scintigraphy to characterize gastric antral motility in functional dyspepsia |journal=J. Nucl. Med. |volume=36 |issue=9 |pages=1579–86 |year=1995 |pmid=7658213 |doi= |url=}}</ref><ref name="pmid20723071">{{cite journal |vauthors=Hejazi RA, Lavenbarg TH, McCallum RW |title=Spectrum of gastric emptying patterns in adult patients with cyclic vomiting syndrome |journal=Neurogastroenterol. Motil. |volume=22 |issue=12 |pages=1298–302, e338 |year=2010 |pmid=20723071 |doi=10.1111/j.1365-2982.2010.01584.x |url=}}</ref><ref name="urlGastric outlet obstruction - an overview | ScienceDirect Topics">{{cite web |url=https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/gastric-outlet-obstruction |title=Gastric outlet obstruction - an overview | ScienceDirect Topics |format= |work= |accessdate=}}</ref><ref name="pmid6370777">{{cite journal |vauthors=Minami H, McCallum RW |title=The physiology and pathophysiology of gastric emptying in humans |journal=Gastroenterology |volume=86 |issue=6 |pages=1592–610 |year=1984 |pmid=6370777 |doi= |url=}}</ref><ref name="pmid2431640">{{cite journal |vauthors=Humphries LL, Adams LJ, Eckfeldt JH, Levitt MD, McClain CJ |title=Hyperamylasemia in patients with eating disorders |journal=Ann. Intern. Med. |volume=106 |issue=1 |pages=50–2 |year=1987 |pmid=2431640 |doi= |url=}}</ref><ref name="pmid2480214">{{cite journal |vauthors=Hempen I, Lehnert P, Fichter M, Teufel J |title=[Hyperamylasemia in anorexia nervosa and bulimia nervosa. Indication of a pancreatic disease?] |language=German |journal=Dtsch. Med. Wochenschr. |volume=114 |issue=49 |pages=1913–6 |year=1989 |pmid=2480214 |doi=10.1055/s-2008-1066848 |url=}}</ref><ref name="pmid19204432">{{cite journal |vauthors=Okada R, Okada A, Okada T, Okada T, Hamajima N |title=Elevated serum lipase levels in patients with dyspepsia of unknown cause in general practice |journal=Med Princ Pract |volume=18 |issue=2 |pages=130–6 |year=2009 |pmid=19204432 |doi=10.1159/000189811 |url=}}</ref><ref name="pmid23198276">{{cite journal |vauthors=Sansone RA, Sansone LA |title=Hoarseness: a sign of self-induced vomiting? |journal=Innov Clin Neurosci |volume=9 |issue=10 |pages=37–41 |year=2012 |pmid=23198276 |pmc=3508961 |doi= |url=}}</ref><ref name="pmid15972301">{{cite journal |vauthors=Tack J, Caenepeel P, Arts J, Lee KJ, Sifrim D, Janssens J |title=Prevalence of acid reflux in functional dyspepsia and its association with symptom profile |journal=Gut |volume=54 |issue=10 |pages=1370–6 |year=2005 |pmid=15972301 |pmc=1774686 |doi=10.1136/gut.2004.053355 |url=}}</ref><ref name="urlgut.bmj.com">{{cite web |url=http://gut.bmj.com/content/gutjnl/early/2005/06/21/gut.2004.053355.full.pdf |title=gut.bmj.com |format= |work= |accessdate=}}</ref><ref name="pmid10490048">{{cite journal |vauthors=Boles RG, Williams JC |title=Mitochondrial disease and cyclic vomiting syndrome |journal=Dig. Dis. Sci. |volume=44 |issue=8 Suppl |pages=103S–107S |year=1999 |pmid=10490048 |doi= |url=}}</ref><ref name="pmid24112485">{{cite journal |vauthors=Ranasinghe WK, Smith M |title=Gastric outlet obstruction with an elevated serum pancreatic lipase secondary to an infraumbilical hernia |journal=Ann R Coll Surg Engl |volume=95 |issue=7 |pages=122–4 |year=2013 |pmid=24112485 |doi=10.1308/003588413X13629960047795 |url=}}</ref><ref name="UiShibusawa2015">{{cite journal|last1=Ui|first1=Takashi|last2=Shibusawa|first2=Hiroyuki|last3=Tsukui|first3=Hidenori|last4=Sakuma|first4=Kazuya|last5=Takahashi|first5=Shuhei|last6=Lefor|first6=Alan K.|last7=Hosoya|first7=Yoshinori|last8=Sata|first8=Naohiro|last9=Yasuda|first9=Yoshikazu|title=Pretreatment of gastric outlet obstruction with pancrelipase: Report of a case|journal=International Journal of Surgery Case Reports|volume=12|year=2015|pages=87–89|issn=22102612|doi=10.1016/j.ijscr.2015.05.023}}</ref>

{| class="wikitable"
! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disorder
! colspan="12" align="center" style="background:#4479BA; color: #FFFFFF;" + |Clinical features
! colspan="5" align="center" style="background:#4479BA; color: #FFFFFF;" + |Laboratory findings
|-
|
|'''Chronic nausea'''
|'''Vomiting'''
|'''Diarrhea'''
|'''Retching'''
|'''Lethargy'''
|'''Social withdrawal'''
|'''Photophobia'''
|'''Epigastric pain/burning'''
|'''Lanugo hair'''
|'''Hypogonadism'''
|'''Russel's sign'''
|'''Body mass index (normal range: 18.5 to 24.9)'''
|'''Complete blood count (CBC)'''
|'''Electrolyte imabalance'''
|'''Lipase and amylase levels'''
|'''Gastric scintigraphy'''
|'''Ambulatory esophageal pH and impedance testing'''
|-
|'''Gastroparesis'''
|✔
|✔ (within 1 hour of eating)
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* [[Anemia]]
|✔
|
* Normal (maybe elevated if chronic renal failure is the cause of gastroparesis- usually less than threefold)
|
* '''Periodic measurement of radiolabeled solid meal:'''
** Grade 1 (mild), 11%-20% retention at 4 h
** Grade 2 (moderate), 21%-35% retention at 4 h
** Grade 3 (severe), 36%-50% retention at 4 h
** Grade 4 (very severe), > 50% retention at 4 h
|
* '''Impedance testing (antroduodenal manometery):''' Loss of normal fasting migratory motor complexes (MMCs) and reduced postprandial [[Antrum|antral]] contractions and, in some cases pylorospasm
|-
|'''[[Anorexia nervosa]]'''
|✔
|✔
|✔
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|↓
|
* [[Leukocytosis]], [[anemia]]
|✔
|
*Increased
|
* [[Delayed gastric emptying|Gastric emptying may be delayed]] but may become normal as feeding recommences (short lived)
|
* '''Esophageal pH:''' May be decreased if patient develops [[gastroesophageal reflux disease]]
|-
|'''[[Bulimia nervosa]]'''
|✔
|✔
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|✔
|Normal
|
* [[Leukocytosis]], [[anemia]]
|✔
|
* Increased
|
* [[Delayed gastric emptying|Gastric emptying delayed]] for a longer duration as compared to [[anorexia nervosa]]
|
* '''Esophageal pH:''' May be decreased if patient develops [[gastroesophageal reflux disease]]
|-
|'''[[Rumination syndrome]]'''
|✔
|✔ ([[Regurgitation]] more common- within minutes of meal intake)
|✔
|<nowiki>-</nowiki>
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* Normal
|✔
|
* Normal
|
* [[Delayed gastric emptying]]
|
* '''Esophageal pH:''' Fall in [[esophageal]] pH immediately after reguritation (occurs while patient is awake and erect; this is in contrast to [[Gastroesophageal reflux disease|GERD]], where [[Gastroesophageal reflux disease|reflux]] occurs diurnally and [[supine]] position)

* '''Impedance testing:'''Increased intra-[[abdominal]] pressure leading to [[regurgitation]] of [[gastric]] contents (Tall R waves)
|-
|'''[[Functional dyspepsia]]'''
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|Normal
|
* Normal
|✔
|
* Increased (especially [[lipase]])
|
* [[Delayed gastric emptying]]
|
* '''Esophageal pH:''' May be decreased if patient develops [[Reflux esophagitis|reflux]]
|-
|'''[[Cyclic vomiting syndrome]]'''
|✔
|✔
|<nowiki>-</nowiki>
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* [[Leukocytosis]], [[anemia]]
|✔
|
* Increased (alongwith increased [[lactic acid]] - in cases of concomitant [[mitochondrial disease]])
|
* Rapid or normal
|
* '''Esophageal pH:''' Decreased
|-
|'''[[Pancreatitis]]'''
|✔
|✔
|✔
|✔
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|Normal
|
* [[Leukocytosis]]
|✔
|
* Increased
|
* Not indicated
|
* '''Esophageal pH:''' Normal
|-
|'''[[Gastric outlet obstruction]]'''
|✔
|✔ (within 1 hour of eating)
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|✔
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|↓
|
* [[Leukocytosis]]
|✔
|
* Increased (in cases of [[pancreatic]] disease)
|
* [[Delayed gastric emptying]]
|
* '''Esophageal pH:''' Increased
* '''Esophageal manometery:''' High manoraetric score
|}

==Other differntials==
Other differentials of rumination disorder include the following:
* [[Gastroesophageal reflux]]
* [[Hiatal hernia]]
* [[Pyloric stenosis]]
* [[Sandifer syndrome]]<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>

==Epidemiology and Demographics==
===Prevalence===
*The prevalence of rumination syndrome is higher among subjects with [[intellectual disability]] compared to the overall population.<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>

==Risk Factors==
* Lack of stimulation
* Neglect
* Problems in the parent-child relationship
* Stressful life situations<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>

==Natural History, Complications and Prognosis==
Rumination disorder typically occurs within the first 3-12 months of age and can lead to the child becoming [[malnourished]].

While rumination disorder may begin in childhood or infancy, adults may also have this chronic disorder, for which there is presently no known cure nor cause. While those diagnosed with this condition in childhood may 'grow out of it', it is by no means a medical fact that they are bound to do so by adolescence or adulthood.

Remission of these episodes is seen in some cases while others persist.

==Diagnostic Criteria==
===DSM-V Diagnostic Criteria for Rumination Disorder<ref name=DSMV>{{cite book | title = Diagnostic and statistical manual of mental disorders : DSM-5 | publisher = American Psychiatric Association | location = Washington, D.C | year = 2013 | isbn = 0890425558 }}</ref>===
{{cquote|

*A. Repeated regurgitation of food over a period of at least 1 month. Regurgitated food may be re-chewed, re-swallowed, or spit out.

'''''AND'''''

*B. The repeated regurgitation is not attributable to an associated gastrointestinal or other medical condition (e.g., [[gastroesophageal reflux]], [[pyloric stenosis]]).

'''''AND'''''

*C. The eating disturbance does not occur exclusively during the course of [[anorexia nervosa]],[[bulimia nervosa]], binge-eating disorder, or avoidant/restrictive food intake disorder.

'''''AND'''''

D. If the symptoms occur in the context of another mental disorder (e.g., intellectual disability, [[Intellectual developmental disorder]] or another neuro developmental disorder),they are sufficiently severe to warrant additional clinical attention.

Specify if:

*In remission: After full criteria for rumination disorder were previously met, the criteria have not been met for a sustained period of time.
}}

==References==
{{reflist|2}}

[[Category:Disease]]

GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME

2024-06-25T22:31:34Z

Rithish Nimmagadda:

__NOTOC__
{{Gerstmann-Sträussler-Scheinker syndrome}}

{{CMG}} '''Associate Editor(s)-in-Chief''':{{VSRN}}
==[[Gerstmann-Sträussler-Scheinker syndromeoverview|Epidemiology]]==

A rare inherited human prion illness called Gerstmann-Sträussler-Scheinker syndrome (GSS) affects 1 to 10 people out of every 100 million people annually.

The high penetrance autosomal-dominant pattern of GSS is inherited by a combination of insertion mutations in the octapeptide repeat and several point mutations. Around the world, at least 24 distinct kindreds have been recognized. P102L is the most prevalent mutation.<ref name="PMID: 2564168">{{cite journal |vauthors=Hsiao K,|title= Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome . |PMID=2564168 |url=}}</ref><ref name="PMID: 1348851.">{{cite journal |vauthors=Kretzschmar HA,|title= Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. |PMID=1348851. |url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndromepathophysiology|Pathophysiology]]==

Multicentric amyloid plaques in the brain's cerebral cortex, basal ganglia, cerebellum, and other areas are indicative of glioblastoma-related syndromes (GSS). While prevalent, speziform degeneration is not always evident. Brains from various kinds have been shown to have neurofibrillary tangles and neuropil threads, which are the same as those observed in Alzheimer's disease. Protease-resistant C- and N-terminally truncated fragments are a hallmark of Creutzfeldt-Jakob disease (CJD), although the biochemical characteristics of prion protein (PrP) are different.<ref name="PMID: 8059606.">{{cite journal |vauthors=Guiroy DC,|title= elationship of microglia and scrapie amyloid-immunoreactive plaques in kuru, Creutzfeldt-Jakob disease and Gerstmann-Sträussler syndrome. |PMID=8059606. |url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndromecauses|Clinical features]]==

Although the development of symptoms in older individuals has been documented, the clinical characteristic is progressive cerebellar degeneration and/or parkinsonism accompanied by variable degrees of dementia in patients nearing midlife (mean age 43 to 48 years).

Incoordination, ataxia of the gait, and clumsiness are examples of cerebellar symptoms. Other early symptoms include proximal weakness in the legs, hyporeflexia, and dysesthesia. In GSS, myoclonus usually doesn't happen or happens later in the disease. The onset and severity of dementia differs among impacted families and members of the same family.<ref name="PMID: 1672447.">{{cite journal |vauthors=Brown P,|title= Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome. Neurology. |PMID=1672447. |url=}}</ref> <ref name="PMID: 7767492.">{{cite journal |vauthors=Ghetti B |title= Gerstmann-Sträussler-Scheinker disease and the Indiana kindred. Brain Pathol. Neurology. |PMID=7767492.|url=}}</ref> <ref name="PMID: 9869672.">{{cite journal |vauthors=Johnson RT |title= Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. Brain Pathol. Neurology. |PMID=9869672.|url=}}</ref>

Incoordination, ataxia of the gait, and clumsiness are examples of cerebellar symptoms. Other early symptoms include proximal weakness in the legs, hyporeflexia, and dysesthesia. In GSS, myoclonus usually doesn't happen or happens later in the disease. The onset and severity of dementia differs among impacted families and members of the same family. <ref name="PMID:16769939.">{{cite journal |vauthors=Arata H |title= Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu). Brain Pathol. Neurology. |PMID=16769939..|url=}}</ref>

Variations in the underlying PRNP mutation are partly responsible for the illness's diversity in expression. Patients with A117V, Y145STOP, and F198S mutations may have dementia predominating, whereas patients with GSS who carry the P102L mutation exhibit more significant cerebellar symptoms <ref name="PMID: 1348851.">{{cite journal |vauthors=Kretzschmar HA |title= Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. Brain Pathol. Neurology. |PMID= 1348851.|url=}}</ref>. For GSS individuals who have the P102L mutation, polymorphism at codon 129 could potentially have a moderating effect. But given that affected families with similar gene mutations exhibit different clinical manifestations of various illnesses, it is likely that additional unknown variables play a role.<ref name="PMID: 18757886.">{{cite journal |vauthors=Webb TE |title= Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. Brain Pathol. Neurology. |PMID= 18757886.|url=}}</ref> <ref name="PMID: 8797472.">{{cite journal |vauthors=Barbanti P |title= Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease. Brain Pathol. Neurology. |PMID= 8797472.|url=}}</ref>

Usually, the sickness progresses for around five years until it finally results in death.<ref name="PMID: 22411239.">{{cite journal |vauthors=Barbanti P |title= Gerstmann-Sträussler-Scheinker disease. Brain Pathol. Neurology. |PMID= 22411239.|url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndrome diagnosis]]==

Given that PRNP gene mutations have been identified in every patient with confirmed GSS, demonstrating these mutations provides a sensitive and specific method of diagnosing GSS. One lady with a family history of GSS was able to undergo preimplantation genetic testing before in vitro fertilization with success.<ref name="PMID: 24493558.">{{cite journal |vauthors=Uflacker A |title= Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene. Brain Pathol. Neurology. |PMID= 24493558.|url=}}</ref>

Biopsy- A curable illness should only be included in the clinical differential diagnosis before considering brain biopsy.

RT-QuIC-Compared to sporadic CJD (sCJD), laboratory and imaging investigations are less useful in the diagnosis of GSS. Normal cerebrospinal fluid (CSF) 14-3-3 and tau findings are seen in most GSS patients. Real-time quaking-induced conversion (RT-QuIC) testing in GSS is less sensitive than sCJD, even if certain instances show positive results.The electroencephalogram (EEG) may show slowing but does not typically show the periodic sharp wave complexes characteristic of sCJD.<ref name="PMID: 28878311.">{{cite journal |vauthors=Franceschini A |title= High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions. Brain Pathol. Neurology. |PMID= 28878311.|url=}}</ref>

MRI- Although the results of brain magnetic resonance imaging (MRI) are neither sensitive or specific, they can reveal regions of reduced T2 signal in the midbrain and striatum in some individuals, as well as nonspecific cerebellar and/or cortical atrophy on structural neuroimaging [154]. Patients with GSS seldom show hyperintensity on diffusion-weighted imaging (DWI) and/or fluid-attenuated inversion recovery (FLAIR) sequences in the cortical ribbon and/or basal ganglia, which is a typical finding in sCJD. <ref name="PMID: 8454765.">{{cite journal |vauthors=Wimberger D |title= Gerstmann-Sträussler-Scheinker syndrome: MR findings.. Brain Pathol. Neurology. |PMID= 8454765.|url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndrome management]]==

There isn't a particular GSS therapy that has been demonstrated to enhance results. In general, management is encouraging.

Two GSS patients who participated in an observational research utilizing intraventricular pentosan polysulfate may have had longer survival; however, this finding may not have therapeutic importance because prolonged longevity has also been noted in individuals who are not receiving treatment.<ref name="PMID:18355301.">{{cite journal |vauthors=Bone I |title= Intraventricular pentosan polysulphate in human prion diseases: an observational study in the UK. Eur J Brain Pathol. Neurology. |PMID= 18355301.|url=}}</ref>

==[[ References]]==

User:Rithish Nimmagadda

2024-06-25T22:09:15Z

Rithish Nimmagadda:

<nowiki>
__NOTOC__
==Your Name==
''' Rithish Nimmagadda,MBBS

Research scholar
 Contact:945-278-1660 
Email: rithishnvs@gmail.com [mailto:rithishnvs@gmail.com] 

==Current Position==
* research scholar (list chapters here) 

==Education==
Medical Degree from Kamineni Academy of Medical sciences and research centre , Hyderabad , India

==Pages Authored==

<div style="-moz-column-count:8; column-count:2;">

#[[Epcoritamab-bysp]]
#[[Elfabrio]]
#[[Mirikizumab-mrkz]]
#[[Bimekizumab]]
#[[Lotilaner]]
#[[Quizartinib]]
#[[Ritlecitinib]]
#[[Tofersen]]
#[[Retifanlimab-dlwr]]
#[[Velmanase alfa-tycv]]
#[[Elacestrant]]
#[[Pirtobrutinib]]
#[[vonoprazan, amoxicillin, and clarithromycin]]
#[[Iptacopa]]
#[[GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME]]

==Pages Co-authored/Collaborated==

#[[Eosinophilic esophagitis medical therapy]]
#[[Migraine]]
#[[Cardiac amyloidosis]]
#[[Aspergillosis]]

GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME

2024-06-25T22:08:41Z

Rithish Nimmagadda: made Associate Editor(s)-in-Chief in bold

GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME

2024-06-25T22:08:14Z

Rithish Nimmagadda:

__NOTOC__
{{Gerstmann-Sträussler-Scheinker syndrome}}

{{CMG}} Associate Editor(s)-in-Chief:{{VSRN}}
==[[Gerstmann-Sträussler-Scheinker syndromeoverview|Epidemiology]]==

A rare inherited human prion illness called Gerstmann-Sträussler-Scheinker syndrome (GSS) affects 1 to 10 people out of every 100 million people annually.

The high penetrance autosomal-dominant pattern of GSS is inherited by a combination of insertion mutations in the octapeptide repeat and several point mutations. Around the world, at least 24 distinct kindreds have been recognized. P102L is the most prevalent mutation.<ref name="PMID: 2564168">{{cite journal |vauthors=Hsiao K,|title= Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome . |PMID=2564168 |url=}}</ref><ref name="PMID: 1348851.">{{cite journal |vauthors=Kretzschmar HA,|title= Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. |PMID=1348851. |url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndromepathophysiology|Pathophysiology]]==

Multicentric amyloid plaques in the brain's cerebral cortex, basal ganglia, cerebellum, and other areas are indicative of glioblastoma-related syndromes (GSS). While prevalent, speziform degeneration is not always evident. Brains from various kinds have been shown to have neurofibrillary tangles and neuropil threads, which are the same as those observed in Alzheimer's disease. Protease-resistant C- and N-terminally truncated fragments are a hallmark of Creutzfeldt-Jakob disease (CJD), although the biochemical characteristics of prion protein (PrP) are different.<ref name="PMID: 8059606.">{{cite journal |vauthors=Guiroy DC,|title= elationship of microglia and scrapie amyloid-immunoreactive plaques in kuru, Creutzfeldt-Jakob disease and Gerstmann-Sträussler syndrome. |PMID=8059606. |url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndromecauses|Clinical features]]==

Although the development of symptoms in older individuals has been documented, the clinical characteristic is progressive cerebellar degeneration and/or parkinsonism accompanied by variable degrees of dementia in patients nearing midlife (mean age 43 to 48 years).

Incoordination, ataxia of the gait, and clumsiness are examples of cerebellar symptoms. Other early symptoms include proximal weakness in the legs, hyporeflexia, and dysesthesia. In GSS, myoclonus usually doesn't happen or happens later in the disease. The onset and severity of dementia differs among impacted families and members of the same family.<ref name="PMID: 1672447.">{{cite journal |vauthors=Brown P,|title= Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome. Neurology. |PMID=1672447. |url=}}</ref> <ref name="PMID: 7767492.">{{cite journal |vauthors=Ghetti B |title= Gerstmann-Sträussler-Scheinker disease and the Indiana kindred. Brain Pathol. Neurology. |PMID=7767492.|url=}}</ref> <ref name="PMID: 9869672.">{{cite journal |vauthors=Johnson RT |title= Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. Brain Pathol. Neurology. |PMID=9869672.|url=}}</ref>

Incoordination, ataxia of the gait, and clumsiness are examples of cerebellar symptoms. Other early symptoms include proximal weakness in the legs, hyporeflexia, and dysesthesia. In GSS, myoclonus usually doesn't happen or happens later in the disease. The onset and severity of dementia differs among impacted families and members of the same family. <ref name="PMID:16769939.">{{cite journal |vauthors=Arata H |title= Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu). Brain Pathol. Neurology. |PMID=16769939..|url=}}</ref>

Variations in the underlying PRNP mutation are partly responsible for the illness's diversity in expression. Patients with A117V, Y145STOP, and F198S mutations may have dementia predominating, whereas patients with GSS who carry the P102L mutation exhibit more significant cerebellar symptoms <ref name="PMID: 1348851.">{{cite journal |vauthors=Kretzschmar HA |title= Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. Brain Pathol. Neurology. |PMID= 1348851.|url=}}</ref>. For GSS individuals who have the P102L mutation, polymorphism at codon 129 could potentially have a moderating effect. But given that affected families with similar gene mutations exhibit different clinical manifestations of various illnesses, it is likely that additional unknown variables play a role.<ref name="PMID: 18757886.">{{cite journal |vauthors=Webb TE |title= Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. Brain Pathol. Neurology. |PMID= 18757886.|url=}}</ref> <ref name="PMID: 8797472.">{{cite journal |vauthors=Barbanti P |title= Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease. Brain Pathol. Neurology. |PMID= 8797472.|url=}}</ref>

Usually, the sickness progresses for around five years until it finally results in death.<ref name="PMID: 22411239.">{{cite journal |vauthors=Barbanti P |title= Gerstmann-Sträussler-Scheinker disease. Brain Pathol. Neurology. |PMID= 22411239.|url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndrome diagnosis]]==

Given that PRNP gene mutations have been identified in every patient with confirmed GSS, demonstrating these mutations provides a sensitive and specific method of diagnosing GSS. One lady with a family history of GSS was able to undergo preimplantation genetic testing before in vitro fertilization with success.<ref name="PMID: 24493558.">{{cite journal |vauthors=Uflacker A |title= Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene. Brain Pathol. Neurology. |PMID= 24493558.|url=}}</ref>

Biopsy- A curable illness should only be included in the clinical differential diagnosis before considering brain biopsy.

RT-QuIC-Compared to sporadic CJD (sCJD), laboratory and imaging investigations are less useful in the diagnosis of GSS. Normal cerebrospinal fluid (CSF) 14-3-3 and tau findings are seen in most GSS patients. Real-time quaking-induced conversion (RT-QuIC) testing in GSS is less sensitive than sCJD, even if certain instances show positive results.The electroencephalogram (EEG) may show slowing but does not typically show the periodic sharp wave complexes characteristic of sCJD.<ref name="PMID: 28878311.">{{cite journal |vauthors=Franceschini A |title= High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions. Brain Pathol. Neurology. |PMID= 28878311.|url=}}</ref>

MRI- Although the results of brain magnetic resonance imaging (MRI) are neither sensitive or specific, they can reveal regions of reduced T2 signal in the midbrain and striatum in some individuals, as well as nonspecific cerebellar and/or cortical atrophy on structural neuroimaging [154]. Patients with GSS seldom show hyperintensity on diffusion-weighted imaging (DWI) and/or fluid-attenuated inversion recovery (FLAIR) sequences in the cortical ribbon and/or basal ganglia, which is a typical finding in sCJD. <ref name="PMID: 8454765.">{{cite journal |vauthors=Wimberger D |title= Gerstmann-Sträussler-Scheinker syndrome: MR findings.. Brain Pathol. Neurology. |PMID= 8454765.|url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndrome management]]==

There isn't a particular GSS therapy that has been demonstrated to enhance results. In general, management is encouraging.

Two GSS patients who participated in an observational research utilizing intraventricular pentosan polysulfate may have had longer survival; however, this finding may not have therapeutic importance because prolonged longevity has also been noted in individuals who are not receiving treatment.<ref name="PMID:18355301.">{{cite journal |vauthors=Bone I |title= Intraventricular pentosan polysulphate in human prion diseases: an observational study in the UK. Eur J Brain Pathol. Neurology. |PMID= 18355301.|url=}}</ref>

GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME

2024-06-25T22:06:01Z

Rithish Nimmagadda:

__NOTOC__
{{Gerstmann-Sträussler-Scheinker syndrome}}

{{CMG}} Associate Editor in chief - {{VSRN}}
==[[Gerstmann-Sträussler-Scheinker syndromeoverview|Epidemiology]]==

A rare inherited human prion illness called Gerstmann-Sträussler-Scheinker syndrome (GSS) affects 1 to 10 people out of every 100 million people annually.

The high penetrance autosomal-dominant pattern of GSS is inherited by a combination of insertion mutations in the octapeptide repeat and several point mutations. Around the world, at least 24 distinct kindreds have been recognized. P102L is the most prevalent mutation.<ref name="PMID: 2564168">{{cite journal |vauthors=Hsiao K,|title= Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome . |PMID=2564168 |url=}}</ref><ref name="PMID: 1348851.">{{cite journal |vauthors=Kretzschmar HA,|title= Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. |PMID=1348851. |url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndromepathophysiology|Pathophysiology]]==

Multicentric amyloid plaques in the brain's cerebral cortex, basal ganglia, cerebellum, and other areas are indicative of glioblastoma-related syndromes (GSS). While prevalent, speziform degeneration is not always evident. Brains from various kinds have been shown to have neurofibrillary tangles and neuropil threads, which are the same as those observed in Alzheimer's disease. Protease-resistant C- and N-terminally truncated fragments are a hallmark of Creutzfeldt-Jakob disease (CJD), although the biochemical characteristics of prion protein (PrP) are different.<ref name="PMID: 8059606.">{{cite journal |vauthors=Guiroy DC,|title= elationship of microglia and scrapie amyloid-immunoreactive plaques in kuru, Creutzfeldt-Jakob disease and Gerstmann-Sträussler syndrome. |PMID=8059606. |url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndromecauses|Clinical features]]==

Although the development of symptoms in older individuals has been documented, the clinical characteristic is progressive cerebellar degeneration and/or parkinsonism accompanied by variable degrees of dementia in patients nearing midlife (mean age 43 to 48 years).

Incoordination, ataxia of the gait, and clumsiness are examples of cerebellar symptoms. Other early symptoms include proximal weakness in the legs, hyporeflexia, and dysesthesia. In GSS, myoclonus usually doesn't happen or happens later in the disease. The onset and severity of dementia differs among impacted families and members of the same family.<ref name="PMID: 1672447.">{{cite journal |vauthors=Brown P,|title= Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome. Neurology. |PMID=1672447. |url=}}</ref> <ref name="PMID: 7767492.">{{cite journal |vauthors=Ghetti B |title= Gerstmann-Sträussler-Scheinker disease and the Indiana kindred. Brain Pathol. Neurology. |PMID=7767492.|url=}}</ref> <ref name="PMID: 9869672.">{{cite journal |vauthors=Johnson RT |title= Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. Brain Pathol. Neurology. |PMID=9869672.|url=}}</ref>

Incoordination, ataxia of the gait, and clumsiness are examples of cerebellar symptoms. Other early symptoms include proximal weakness in the legs, hyporeflexia, and dysesthesia. In GSS, myoclonus usually doesn't happen or happens later in the disease. The onset and severity of dementia differs among impacted families and members of the same family. <ref name="PMID:16769939.">{{cite journal |vauthors=Arata H |title= Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu). Brain Pathol. Neurology. |PMID=16769939..|url=}}</ref>

Variations in the underlying PRNP mutation are partly responsible for the illness's diversity in expression. Patients with A117V, Y145STOP, and F198S mutations may have dementia predominating, whereas patients with GSS who carry the P102L mutation exhibit more significant cerebellar symptoms <ref name="PMID: 1348851.">{{cite journal |vauthors=Kretzschmar HA |title= Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. Brain Pathol. Neurology. |PMID= 1348851.|url=}}</ref>. For GSS individuals who have the P102L mutation, polymorphism at codon 129 could potentially have a moderating effect. But given that affected families with similar gene mutations exhibit different clinical manifestations of various illnesses, it is likely that additional unknown variables play a role.<ref name="PMID: 18757886.">{{cite journal |vauthors=Webb TE |title= Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. Brain Pathol. Neurology. |PMID= 18757886.|url=}}</ref> <ref name="PMID: 8797472.">{{cite journal |vauthors=Barbanti P |title= Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease. Brain Pathol. Neurology. |PMID= 8797472.|url=}}</ref>

Usually, the sickness progresses for around five years until it finally results in death.<ref name="PMID: 22411239.">{{cite journal |vauthors=Barbanti P |title= Gerstmann-Sträussler-Scheinker disease. Brain Pathol. Neurology. |PMID= 22411239.|url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndrome diagnosis]]==

Given that PRNP gene mutations have been identified in every patient with confirmed GSS, demonstrating these mutations provides a sensitive and specific method of diagnosing GSS. One lady with a family history of GSS was able to undergo preimplantation genetic testing before in vitro fertilization with success.<ref name="PMID: 24493558.">{{cite journal |vauthors=Uflacker A |title= Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene. Brain Pathol. Neurology. |PMID= 24493558.|url=}}</ref>

Biopsy- A curable illness should only be included in the clinical differential diagnosis before considering brain biopsy.

RT-QuIC-Compared to sporadic CJD (sCJD), laboratory and imaging investigations are less useful in the diagnosis of GSS. Normal cerebrospinal fluid (CSF) 14-3-3 and tau findings are seen in most GSS patients. Real-time quaking-induced conversion (RT-QuIC) testing in GSS is less sensitive than sCJD, even if certain instances show positive results.The electroencephalogram (EEG) may show slowing but does not typically show the periodic sharp wave complexes characteristic of sCJD.<ref name="PMID: 28878311.">{{cite journal |vauthors=Franceschini A |title= High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions. Brain Pathol. Neurology. |PMID= 28878311.|url=}}</ref>

MRI- Although the results of brain magnetic resonance imaging (MRI) are neither sensitive or specific, they can reveal regions of reduced T2 signal in the midbrain and striatum in some individuals, as well as nonspecific cerebellar and/or cortical atrophy on structural neuroimaging [154]. Patients with GSS seldom show hyperintensity on diffusion-weighted imaging (DWI) and/or fluid-attenuated inversion recovery (FLAIR) sequences in the cortical ribbon and/or basal ganglia, which is a typical finding in sCJD. <ref name="PMID: 8454765.">{{cite journal |vauthors=Wimberger D |title= Gerstmann-Sträussler-Scheinker syndrome: MR findings.. Brain Pathol. Neurology. |PMID= 8454765.|url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndrome management]]==

There isn't a particular GSS therapy that has been demonstrated to enhance results. In general, management is encouraging.

Two GSS patients who participated in an observational research utilizing intraventricular pentosan polysulfate may have had longer survival; however, this finding may not have therapeutic importance because prolonged longevity has also been noted in individuals who are not receiving treatment.<ref name="PMID:18355301.">{{cite journal |vauthors=Bone I |title= Intraventricular pentosan polysulphate in human prion diseases: an observational study in the UK. Eur J Brain Pathol. Neurology. |PMID= 18355301.|url=}}</ref>

GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME

2024-06-25T22:02:28Z

Rithish Nimmagadda:

__NOTOC__
{{Gerstmann-Sträussler-Scheinker syndrome}}

{{CMG}}; {{VSRN}}
==[[Gerstmann-Sträussler-Scheinker syndromeoverview|Epidemiology]]==

A rare inherited human prion illness called Gerstmann-Sträussler-Scheinker syndrome (GSS) affects 1 to 10 people out of every 100 million people annually.

The high penetrance autosomal-dominant pattern of GSS is inherited by a combination of insertion mutations in the octapeptide repeat and several point mutations. Around the world, at least 24 distinct kindreds have been recognized. P102L is the most prevalent mutation.<ref name="PMID: 2564168">{{cite journal |vauthors=Hsiao K,|title= Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome . |PMID=2564168 |url=}}</ref><ref name="PMID: 1348851.">{{cite journal |vauthors=Kretzschmar HA,|title= Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. |PMID=1348851. |url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndromepathophysiology|Pathophysiology]]==

Multicentric amyloid plaques in the brain's cerebral cortex, basal ganglia, cerebellum, and other areas are indicative of glioblastoma-related syndromes (GSS). While prevalent, speziform degeneration is not always evident. Brains from various kinds have been shown to have neurofibrillary tangles and neuropil threads, which are the same as those observed in Alzheimer's disease. Protease-resistant C- and N-terminally truncated fragments are a hallmark of Creutzfeldt-Jakob disease (CJD), although the biochemical characteristics of prion protein (PrP) are different.<ref name="PMID: 8059606.">{{cite journal |vauthors=Guiroy DC,|title= elationship of microglia and scrapie amyloid-immunoreactive plaques in kuru, Creutzfeldt-Jakob disease and Gerstmann-Sträussler syndrome. |PMID=8059606. |url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndromecauses|Clinical features]]==

Although the development of symptoms in older individuals has been documented, the clinical characteristic is progressive cerebellar degeneration and/or parkinsonism accompanied by variable degrees of dementia in patients nearing midlife (mean age 43 to 48 years).

Incoordination, ataxia of the gait, and clumsiness are examples of cerebellar symptoms. Other early symptoms include proximal weakness in the legs, hyporeflexia, and dysesthesia. In GSS, myoclonus usually doesn't happen or happens later in the disease. The onset and severity of dementia differs among impacted families and members of the same family.<ref name="PMID: 1672447.">{{cite journal |vauthors=Brown P,|title= Clinical and molecular genetic study of a large German kindred with Gerstmann-Sträussler-Scheinker syndrome. Neurology. |PMID=1672447. |url=}}</ref> <ref name="PMID: 7767492.">{{cite journal |vauthors=Ghetti B |title= Gerstmann-Sträussler-Scheinker disease and the Indiana kindred. Brain Pathol. Neurology. |PMID=7767492.|url=}}</ref> <ref name="PMID: 9869672.">{{cite journal |vauthors=Johnson RT |title= Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. Brain Pathol. Neurology. |PMID=9869672.|url=}}</ref>

Incoordination, ataxia of the gait, and clumsiness are examples of cerebellar symptoms. Other early symptoms include proximal weakness in the legs, hyporeflexia, and dysesthesia. In GSS, myoclonus usually doesn't happen or happens later in the disease. The onset and severity of dementia differs among impacted families and members of the same family. <ref name="PMID:16769939.">{{cite journal |vauthors=Arata H |title= Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu). Brain Pathol. Neurology. |PMID=16769939..|url=}}</ref>

Variations in the underlying PRNP mutation are partly responsible for the illness's diversity in expression. Patients with A117V, Y145STOP, and F198S mutations may have dementia predominating, whereas patients with GSS who carry the P102L mutation exhibit more significant cerebellar symptoms <ref name="PMID: 1348851.">{{cite journal |vauthors=Kretzschmar HA |title= Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. Brain Pathol. Neurology. |PMID= 1348851.|url=}}</ref>. For GSS individuals who have the P102L mutation, polymorphism at codon 129 could potentially have a moderating effect. But given that affected families with similar gene mutations exhibit different clinical manifestations of various illnesses, it is likely that additional unknown variables play a role.<ref name="PMID: 18757886.">{{cite journal |vauthors=Webb TE |title= Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. Brain Pathol. Neurology. |PMID= 18757886.|url=}}</ref> <ref name="PMID: 8797472.">{{cite journal |vauthors=Barbanti P |title= Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease. Brain Pathol. Neurology. |PMID= 8797472.|url=}}</ref>

Usually, the sickness progresses for around five years until it finally results in death.<ref name="PMID: 22411239.">{{cite journal |vauthors=Barbanti P |title= Gerstmann-Sträussler-Scheinker disease. Brain Pathol. Neurology. |PMID= 22411239.|url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndrome diagnosis]]==

Given that PRNP gene mutations have been identified in every patient with confirmed GSS, demonstrating these mutations provides a sensitive and specific method of diagnosing GSS. One lady with a family history of GSS was able to undergo preimplantation genetic testing before in vitro fertilization with success.<ref name="PMID: 24493558.">{{cite journal |vauthors=Uflacker A |title= Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene. Brain Pathol. Neurology. |PMID= 24493558.|url=}}</ref>

Biopsy- A curable illness should only be included in the clinical differential diagnosis before considering brain biopsy.

RT-QuIC-Compared to sporadic CJD (sCJD), laboratory and imaging investigations are less useful in the diagnosis of GSS. Normal cerebrospinal fluid (CSF) 14-3-3 and tau findings are seen in most GSS patients. Real-time quaking-induced conversion (RT-QuIC) testing in GSS is less sensitive than sCJD, even if certain instances show positive results.The electroencephalogram (EEG) may show slowing but does not typically show the periodic sharp wave complexes characteristic of sCJD.<ref name="PMID: 28878311.">{{cite journal |vauthors=Franceschini A |title= High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions. Brain Pathol. Neurology. |PMID= 28878311.|url=}}</ref>

MRI- Although the results of brain magnetic resonance imaging (MRI) are neither sensitive or specific, they can reveal regions of reduced T2 signal in the midbrain and striatum in some individuals, as well as nonspecific cerebellar and/or cortical atrophy on structural neuroimaging [154]. Patients with GSS seldom show hyperintensity on diffusion-weighted imaging (DWI) and/or fluid-attenuated inversion recovery (FLAIR) sequences in the cortical ribbon and/or basal ganglia, which is a typical finding in sCJD. <ref name="PMID: 8454765.">{{cite journal |vauthors=Wimberger D |title= Gerstmann-Sträussler-Scheinker syndrome: MR findings.. Brain Pathol. Neurology. |PMID= 8454765.|url=}}</ref>

==[[Gerstmann-Sträussler-Scheinker syndrome management]]==

There isn't a particular GSS therapy that has been demonstrated to enhance results. In general, management is encouraging.

Two GSS patients who participated in an observational research utilizing intraventricular pentosan polysulfate may have had longer survival; however, this finding may not have therapeutic importance because prolonged longevity has also been noted in individuals who are not receiving treatment.<ref name="PMID:18355301.">{{cite journal |vauthors=Bone I |title= Intraventricular pentosan polysulphate in human prion diseases: an observational study in the UK. Eur J Brain Pathol. Neurology. |PMID= 18355301.|url=}}</ref>

GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME

2024-06-25T21:29:48Z

Rithish Nimmagadda: /* Pathophysiology */

GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME

2024-06-25T21:12:32Z

Rithish Nimmagadda:

GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME

2024-06-25T21:11:36Z

Rithish Nimmagadda: /* Overview */

GERSTMANN-STRÄUSSLER-SCHEINKER SYNDROME

2024-06-25T21:01:29Z

Rithish Nimmagadda: Created page with "__NOTOC__ {{Gerstmann-Sträussler-Scheinker syndrome}} {{CMG}}; {{VSRN}} ==Overview== ==Historical Perspective== ==Classification== ==Pathophysiology== ==Causes== ==Gerstmann-S..."

__NOTOC__
{{Gerstmann-Sträussler-Scheinker syndrome}}

{{CMG}}; {{VSRN}}
==[[Gerstmann-Sträussler-Scheinker syndromeoverview|Overview]]==

==[[Gerstmann-Sträussler-Scheinker syndromehistorical perspective|Historical Perspective]]==

==[[Gerstmann-Sträussler-Scheinker syndromeclassification|Classification]]==

==[[Gerstmann-Sträussler-Scheinker syndromepathophysiology|Pathophysiology]]==

==[[Gerstmann-Sträussler-Scheinker syndromecauses|Causes]]==

==[[Gerstmann-Sträussler-Scheinker syndromedifferential diagnosis|Differentiating Gerstmann-Sträussler-Scheinker syndromefrom other Diseases]]==

==[[Gerstmann-Sträussler-Scheinker syndromeepidemiology and demographics|Epidemiology and Demographics]]==

==[[Gerstmann-Sträussler-Scheinker syndromerisk factors|Risk Factors]]==

==[[Gerstmann-Sträussler-Scheinker syndromescreening|Screening]]==

==[[Gerstmann-Sträussler-Scheinker syndromenatural history, complications and prognosis|Natural History, Complications and Prognosis]]==

User:Rithish Nimmagadda

2024-06-24T01:19:05Z

Rithish Nimmagadda: /* Pages Co-authored/Collaborated */

<nowiki>
__NOTOC__
==Your Name==
''' Rithish Nimmagadda,MBBS

Research scholar
 Contact:945-278-1660 
Email: rithishnvs@gmail.com [mailto:rithishnvs@gmail.com] 

==Current Position==
* research scholar (list chapters here) 

==Education==
Medical Degree from Kamineni Academy of Medical sciences and research centre , Hyderabad , India

==Pages Authored==

<div style="-moz-column-count:8; column-count:2;">

#[[Epcoritamab-bysp]]
#[[Elfabrio]]
#[[Mirikizumab-mrkz]]
#[[Bimekizumab]]
#[[Lotilaner]]
#[[Quizartinib]]
#[[Ritlecitinib]]
#[[Tofersen]]
#[[Retifanlimab-dlwr]]
#[[Velmanase alfa-tycv]]
#[[Elacestrant]]
#[[Pirtobrutinib]]
#[[vonoprazan, amoxicillin, and clarithromycin]]
#[[Iptacopa]]

==Pages Co-authored/Collaborated==

#[[Eosinophilic esophagitis medical therapy]]
#[[Migraine]]
#[[Cardiac amyloidosis]]
#[[Aspergillosis]]

Aspergillosis

2024-06-24T01:18:41Z

Rithish Nimmagadda:

__NOTOC__
{{About1|Aspergillus}}
'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
{{Aspergillosis}}
{{CMG}} {{AE}} {{HL}}; {{YD}}; {{VSRN}}; {{SSK}} 
{{SK}} Aspergillus infection; Allergic bronchopulmonary aspergillosis; ABPA; Allergic ''Aspergillus'' sinusitis; Allergic ''Aspergillus'' rhinosinusitis; Aspergilloma; Fungus ball; Chronic pulmonary aspergillosis, Chronic cavitary pulmonary aspergillosis; CCPA; Chronic fibrosing pulmonary aspergillosis; CCFA; Chronic necrotizing pulmonary aspergillosis; CNPA; Invasive aspergillosis; Cutaneous aspergillosis; Aspergillose; Pseudotuberculosis; Brooder pneumonia; Asper mycosis; Mycotic pneumonia


==[[Aspergillosis overview|Overview]]==

==[[Aspergillosis historical perspective|Historical Perspective]]==

==[[Aspergillosis classification|Classification]]==

==[[Aspergillosis pathophysiology|Pathophysiology]]==

==[[Aspergillosis causes|Causes]]==

==[[Aspergillosis differential diagnosis|Differentiating Aspergillosis from other Diseases]]==

==[[Aspergillosis epidemiology and demographics|Epidemiology and Demographics]]==

==[[Aspergillosis risk factors|Risk Factors]]==

==[[Aspergillosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]==

==Diagnosis==
[[Aspergillosis diagnostic criteria|Diagnostic Criteria]] | [[Aspergillosis history and symptoms|History and Symptoms]] | [[Aspergillosis physical examination|Physical Examination]] | [[Aspergillosis laboratory findings|Laboratory Findings]] | [[Aspergillosis chest x ray|Chest X Ray]] | [[Aspergillosis CT|CT]] | [[Aspergillosis other diagnostic studies|Other Diagnostic Studies]]

==Treatment==
[[Aspergillosis medical therapy|Medical Therapy]] | [[Aspergillosis surgery|Surgery]] | [[Aspergillosis primary prevention|Primary Prevention]] | [[Aspergillosis future or investigational therapies|Future or Investigational Therapies]]

==Case Studies==
[[Aspergillosis case study one|Case #1]]

[[Category:Fungal diseases]]

Aspergillosis

2024-06-24T01:18:28Z

Rithish Nimmagadda:

__NOTOC__
{{About1|Aspergillus}}
'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
{{Aspergillosis}}
{{CMG}} {{AE}} {{HL}}; {{YD}};{{VSRN}}; {{SSK}} 
{{SK}} Aspergillus infection; Allergic bronchopulmonary aspergillosis; ABPA; Allergic ''Aspergillus'' sinusitis; Allergic ''Aspergillus'' rhinosinusitis; Aspergilloma; Fungus ball; Chronic pulmonary aspergillosis, Chronic cavitary pulmonary aspergillosis; CCPA; Chronic fibrosing pulmonary aspergillosis; CCFA; Chronic necrotizing pulmonary aspergillosis; CNPA; Invasive aspergillosis; Cutaneous aspergillosis; Aspergillose; Pseudotuberculosis; Brooder pneumonia; Asper mycosis; Mycotic pneumonia


==[[Aspergillosis overview|Overview]]==

==[[Aspergillosis historical perspective|Historical Perspective]]==

==[[Aspergillosis classification|Classification]]==

==[[Aspergillosis pathophysiology|Pathophysiology]]==

==[[Aspergillosis causes|Causes]]==

==[[Aspergillosis differential diagnosis|Differentiating Aspergillosis from other Diseases]]==

==[[Aspergillosis epidemiology and demographics|Epidemiology and Demographics]]==

==[[Aspergillosis risk factors|Risk Factors]]==

==[[Aspergillosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]==

==Diagnosis==
[[Aspergillosis diagnostic criteria|Diagnostic Criteria]] | [[Aspergillosis history and symptoms|History and Symptoms]] | [[Aspergillosis physical examination|Physical Examination]] | [[Aspergillosis laboratory findings|Laboratory Findings]] | [[Aspergillosis chest x ray|Chest X Ray]] | [[Aspergillosis CT|CT]] | [[Aspergillosis other diagnostic studies|Other Diagnostic Studies]]

==Treatment==
[[Aspergillosis medical therapy|Medical Therapy]] | [[Aspergillosis surgery|Surgery]] | [[Aspergillosis primary prevention|Primary Prevention]] | [[Aspergillosis future or investigational therapies|Future or Investigational Therapies]]

==Case Studies==
[[Aspergillosis case study one|Case #1]]

[[Category:Fungal diseases]]

Aspergillosis surgery

2024-06-24T01:17:52Z

Rithish Nimmagadda:

{{Aspergillosis}}
{{CMG}} {{HL}}; {{YD}}; {{SSK}} ; {{VSRN}}
==Overview==
Surgery is required for the treatment of an aspergilloma fungus ball. [[Endocarditis]] caused by ''Aspergillus'' is treated by surgical repair of the heart valve.
==Surgery==
Surgery is required for the treatment of an aspergilloma fungus ball. Emergent debridement of Aspergillus rhinosinusitis can limit extension to the orbit and brain and can be lifesaving <ref name="PMID: 27365388">{{cite journal |vauthors=Patterson TF I |title=Practice Guidelines for the Diagnosis and Management of Aspergillosis: 2016 Update by the Infectious Diseases Society of America.|PMID=27365388. |url=}}</ref>

Radical surgical debridement is required in some cases to achieve cure and sometimes requires multiple surgeries. The need for surgery may depend on the degree of fungal bone invasion at diagnosis and anticipated risks in the setting of severe thrombocytopenia; we have treated some patients successfully with medical therapy alone

Primary cutaneous infection – Debridement is recommended for primary cutaneous infection associated with burns or massive soft tissue wounds

Pulmonary infection – Surgical excision of a pulmonary cavity has been performed in patients with a single pulmonary lesion and recurrent hemoptysis or bacterial superinfection<ref name="PMID: 16088462.">{{cite journal |vauthors=Herbrecht R |title= Invasive pulmonary aspergillosis. Semin Respir Crit Care Med. 2004. |PMID=16088462.. |url=}}</ref>. Surgery may be helpful for patients who have lesions near the pericardium or great arteries and are at high risk of bleeding into them, for patients who bleed uncontrolled, or for patients who have pleural space or chest wall invasion.Patients with a single pulmonary lesion before intense chemotherapy or HCT, as well as those with localized pulmonary disease that is resistant to antifungal therapy, may be candidates for it; however, there are significant risks involved, and its usefulness is unclear given that the availability of current antifungals by itself may be sufficient.Persistent pneumothorax and the release of viable fungus into the pleural cavity are risks. We advise starting pulmonary aspergillosis treatment with medication and then following up to see if surgery is required, unless there is an imminent risk of significant bleeding. Surgery is not usually necessary for individuals with invasive pulmonary aspergillosis. In one retrospective analysis, 41 patients with hematologic illness that was worse by invasive pulmonary aspergillosis and neutropenia were assessed.

endocarditis- In an effort to avoid embolic consequences and valvular decompensation, individuals with Aspergillus endocarditis should have early valve replacement surgery.

central nervous system- Although some small studies have indicated a mortality advantage to surgery combined with voriconazole antifungal medication for the treatment of cerebral lesions <ref name="PMID: 15998833.">{{cite journal |vauthors=Schwartz S,|title= Improved outcome in central nervous system aspergillosis, using voriconazole treatment . |PMID=15998833. |url=}}</ref>

[[Endocarditis]] caused by ''Aspergillus'' is treated by surgical repair of the heart valve.

==References==
{{reflist|2}}
[[Category:Fungal diseases]]

Aspergillosis surgery

2024-06-24T01:17:29Z

Rithish Nimmagadda: /* Surgery */

{{Aspergillosis}}
{{CMG}} {{HL}}; {{YD}}; {{SSK}}
==Overview==
Surgery is required for the treatment of an aspergilloma fungus ball. [[Endocarditis]] caused by ''Aspergillus'' is treated by surgical repair of the heart valve.
==Surgery==
Surgery is required for the treatment of an aspergilloma fungus ball. Emergent debridement of Aspergillus rhinosinusitis can limit extension to the orbit and brain and can be lifesaving <ref name="PMID: 27365388">{{cite journal |vauthors=Patterson TF I |title=Practice Guidelines for the Diagnosis and Management of Aspergillosis: 2016 Update by the Infectious Diseases Society of America.|PMID=27365388. |url=}}</ref>

Radical surgical debridement is required in some cases to achieve cure and sometimes requires multiple surgeries. The need for surgery may depend on the degree of fungal bone invasion at diagnosis and anticipated risks in the setting of severe thrombocytopenia; we have treated some patients successfully with medical therapy alone

Primary cutaneous infection – Debridement is recommended for primary cutaneous infection associated with burns or massive soft tissue wounds

Pulmonary infection – Surgical excision of a pulmonary cavity has been performed in patients with a single pulmonary lesion and recurrent hemoptysis or bacterial superinfection<ref name="PMID: 16088462.">{{cite journal |vauthors=Herbrecht R |title= Invasive pulmonary aspergillosis. Semin Respir Crit Care Med. 2004. |PMID=16088462.. |url=}}</ref>. Surgery may be helpful for patients who have lesions near the pericardium or great arteries and are at high risk of bleeding into them, for patients who bleed uncontrolled, or for patients who have pleural space or chest wall invasion.Patients with a single pulmonary lesion before intense chemotherapy or HCT, as well as those with localized pulmonary disease that is resistant to antifungal therapy, may be candidates for it; however, there are significant risks involved, and its usefulness is unclear given that the availability of current antifungals by itself may be sufficient.Persistent pneumothorax and the release of viable fungus into the pleural cavity are risks. We advise starting pulmonary aspergillosis treatment with medication and then following up to see if surgery is required, unless there is an imminent risk of significant bleeding. Surgery is not usually necessary for individuals with invasive pulmonary aspergillosis. In one retrospective analysis, 41 patients with hematologic illness that was worse by invasive pulmonary aspergillosis and neutropenia were assessed.

endocarditis- In an effort to avoid embolic consequences and valvular decompensation, individuals with Aspergillus endocarditis should have early valve replacement surgery.

central nervous system- Although some small studies have indicated a mortality advantage to surgery combined with voriconazole antifungal medication for the treatment of cerebral lesions <ref name="PMID: 15998833.">{{cite journal |vauthors=Schwartz S,|title= Improved outcome in central nervous system aspergillosis, using voriconazole treatment . |PMID=15998833. |url=}}</ref>

[[Endocarditis]] caused by ''Aspergillus'' is treated by surgical repair of the heart valve.

==References==
{{reflist|2}}
[[Category:Fungal diseases]]

Aspergillosis diagnostic criteria

2024-06-24T00:46:27Z

Rithish Nimmagadda: /* Allergic Bronchopulmonary Aspergillosis */

__NOTOC__
{{Aspergillosis}}
{{CMG}} {{AE}} {{HL}}; {{YD}}; {{SSK}}
==Overview==
Diagnostic criteria are available for allergic bronchopulmonary aspergillosis and for allergic fungal rhinosinusitis. Major and minor diagnostic criteria are based on clinical, laboratory, and radiological findings.
==Diagnostic Criteria==
===Allergic Bronchopulmonary Aspergillosis===
The following table shows the diagnostic criteria for allergic bronchopulmonary aspergillosis:
{| {{table}} cellpadding="4" cellspacing="0" style="border:#c9c9c9 1px solid; margin: 1em 1em 1em 0; border-collapse: collapse;"
| align="center" style="background:#f0f0f0;" |'''Major'''
| align="center" style="background:#f0f0f0;" |'''Minor'''
|-
|
*[[Asthma]]
|
*Presence of Aspergillus in [[sputum]]
|-
|
*[[Roentgenographic fleeting pulmonary opacities]]
|
*Expectoration of brownish black [[mucus]] plugs
|-
|
*[[Skin]] test positive for [[Aspergillus]]
|
*Delayed [[skin]] reaction to [[Aspergillus]] [[antigen]]
|-
|
*[[Eosinophilia]]
|
|-
|
*[[IgE]] in s[[e]]rum elevated (> 500 IU/mL)- revised 2024 criteria
|
|-
|
*Central [[bronchiectasis]]
|
|-
|
*Serums A fumigatus-specific [[IgG]] and [[IgE]]
|
|-
|
*Precipitating [[antibodies]] (IgG) in serum
|

|}

===Allergic Fungal Rhinosinusitis===
The following table shows the 1994 Bent and Kuhn diagnostic criteria for allergic fungal rhinosinusitis:

{| {{table}} cellpadding="4" cellspacing="0" style="border:#c9c9c9 1px solid; margin: 1em 1em 1em 0; border-collapse: collapse;"
| align="center" style="background:#f0f0f0;" |'''Major'''
| align="center" style="background:#f0f0f0;" |'''Minor'''
|-
|
*[[Type I hypersensitivity]]
|
*[[Asthma]]
|-
|
*[[Nasal polyposis]]
|
*Unilateral disease
|-
|
*Characteristic CT findings (see [[Aspergillosis CT|here]])
|
*Bone erosion
|-
|
*Eosinophilic mucin without invasion
|
*Fungal cultures
|-
|
*Positive fungal stain
|
*[[Charcot-Leyden crystals]]
|-
|
|
*Serum [[eosinophilia]]
|}
Table adapted from Bent JP 3rd, Kuhn FA. Diagnosis of allergic fungal sinusitis. Otolaryngol Head Neck Surg.1994 111(5):580-8<ref name="pmid7970796">{{cite journal| author=Bent JP, Kuhn FA| title=Diagnosis of allergic fungal sinusitis. | journal=Otolaryngol Head Neck Surg | year= 1994 | volume= 111 | issue= 5 | pages= 580-8 | pmid=7970796 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7970796 }} </ref>
 
*To make the diagnosis of allergic fungal rhinosinusitis, patients must meet '''ALL''' the major criteria.
*Minor criteria may support the diagnosis, but they are not considered diagnostic.

==References==
{{Reflist|2}}

User:Rithish Nimmagadda

2024-06-24T00:40:48Z

Rithish Nimmagadda:

<nowiki>
__NOTOC__
==Your Name==
''' Rithish Nimmagadda,MBBS

Research scholar
 Contact:945-278-1660 
Email: rithishnvs@gmail.com [mailto:rithishnvs@gmail.com] 

==Current Position==
* research scholar (list chapters here) 

==Education==
Medical Degree from Kamineni Academy of Medical sciences and research centre , Hyderabad , India

==Pages Authored==

<div style="-moz-column-count:8; column-count:2;">

#[[Epcoritamab-bysp]]
#[[Elfabrio]]
#[[Mirikizumab-mrkz]]
#[[Bimekizumab]]
#[[Lotilaner]]
#[[Quizartinib]]
#[[Ritlecitinib]]
#[[Tofersen]]
#[[Retifanlimab-dlwr]]
#[[Velmanase alfa-tycv]]
#[[Elacestrant]]
#[[Pirtobrutinib]]
#[[vonoprazan, amoxicillin, and clarithromycin]]
#[[Iptacopa]]

==Pages Co-authored/Collaborated==

#[[Eosinophilic esophagitis medical therapy]]
#[[Migraine]]
#[[Cardiac amyloidosis]]

User:Rithish Nimmagadda

2024-06-24T00:40:22Z

Rithish Nimmagadda: /* Pages Co-authored/Collaborated */

<nowiki>
__NOTOC__
==Your Name==
''' Rithish Nimmagadda,MBBS

Research scholar
 Contact:945-278-1660 
Email: rithishnvs@gmail.com [mailto:rithishnvs@gmail.com] 

==Current Position==
* research scholar (list chapters here) 

==Education==
Medical Degree from Kamineni Academy of Medical sciences and research centre , Hyderabad , India

==Pages Authored==

<div style="-moz-column-count:8; column-count:2;">

#[[Epcoritamab-bysp]]
#[[Elfabrio]]
#[[Mirikizumab-mrkz]]
#[[Bimekizumab]]
#[[Lotilaner]]
#[[Quizartinib]]
#[[Ritlecitinib]]
#[[Tofersen]]
#[[Retifanlimab-dlwr]]
#[[Velmanase alfa-tycv]]
#[[Elacestrant]]
#[[Pirtobrutinib]]
#[[vonoprazan, amoxicillin, and clarithromycin]]
#[[Iptacopa]]

==Pages Co-authored/Collaborated==

#[[Eosinophilic esophagitis medical therapy]]
#[[Migraine]]
#[[Cardiac Amyloidosis]]

Cardiac amyloidosis

2024-06-24T00:39:37Z

Rithish Nimmagadda:

__NOTOC__
{{Infobox_Disease |
Name = {{PAGENAME}} |
Image = LA Amyloid.jpg|
Caption = Amyloidosis Lesion In Left Atrium: Gross natural color view of a diagnostic lesion [http://www.peir.net Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology] |
}}
'''For patient information click [[{{PAGENAME}} (patient information)|here.]]''' 
'''To go back to the Amyloidosis landing page, click [[Amyloidosis|here]].''' 
{{Cardiac amyloidosis}}
{{CMG}}; {{AE}} {{AN}} {{RT}}; {{CZ}}; {{LG}}, {{Sab}} ;{{VSRN}}

{{SK}} Cardiac amyloid; amyloid cardiac; amyloid cardiomyopathy; stiff heart syndrome; senile cardiac amyloidosis; AS transthyretin amyloidosis; amyloid heart muscle disease; amyloid heart disease; amyloid heart; CA

==[[Cardiac amyloidosis overview|Overview]]==

==[[Cardiac amyloidosis historical perspective|Historical Perspective]]==

==[[Cardiac amyloidosis classification|Classification]]==

==[[Cardiac amyloidosis pathophysiology|Pathophysiology]]==

==[[Cardiac amyloidosis causes|Causes]]==

==[[Cardiac amyloidosis differential diagnosis|Differentiating Cardiac amyloidosis from other Diseases]]==

==[[Cardiac amyloidosis epidemiology and demographics|Epidemiology and Demographics]]==

==[[Cardiac amyloidosis risk factors|Risk Factors]]==

==[[Cardiac amyloidosis screening|Screening]]==

==[[Cardiac amyloidosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]==

==Diagnosis==
[[Cardiac amyloidosis diagnostic study of choice|Diagnostic study of choice]] | [[Cardiac amyloidosis history and symptoms|History and Symptoms]] | [[Cardiac amyloidosis physical examination|Physical Examination]] | [[Cardiac amyloidosis laboratory findings|Laboratory Findings]] | [[Cardiac amyloidosis electrocardiogram|Electrocardiogram]] | [[Cardiac amyloidosis x ray|X-Ray Findings]] | [[Cardiac amyloidosis echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Cardiac amyloidosis CT scan|CT-Scan Findings]] | [[Cardiac amyloidosis MRI|MRI Findings]] | [[Cardiac amyloidosis other imaging findings|Other Imaging Findings]] | [[Cardiac amyloidosis other diagnostic studies|Other Diagnostic Studies]]

==Treatment==
[[Cardiac amyloidosis medical therapy|Medical Therapy]] | [[Cardiac amyloidosis surgery|Surgery]] | [[Cardiac amyloidosis primary prevention|Primary Prevention]] | [[Cardiac amyloidosis secondary prevention|Secondary Prevention]] | [[Cardiac amyloidosis cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Cardiac amyloidosis future or investigational therapies|Future or Investigational Therapies]]

==Case Studies==
[[Cardiac amyloidosis case study one|Case #1]]

{{Circulatory system pathology}}
{{Amyloidosis}}

{{WikiDoc Help Menu}}
{{WikiDoc Sources}}
[[CME Category::Cardiology]]

[[Category:Disease]]
[[Category:Cardiology]]
[[Category:Rheumatology]]