wikidoc - User contributions [en]

Gout electrocardiogram

2018-04-27T14:25:39Z

2018-04-27T11:09:05Z

2018-04-27T06:46:42Z

Vellayat Ali:

[[File:Tophaceous gout-Rt-great-toe.jpg|thumb|'''Tophaceous gout affecting the right great toe and finger interphalangeal joints'''. Note the asymmetrical swelling and yellow-white discolouration.<ref name="Roddy2011">{{cite journal|last1=Roddy|first1=Edward|title=Revisiting the pathogenesis of podagra: why does gout target the foot?|journal=Journal of Foot and Ankle Research|volume=4|issue=1|year=2011|issn=1757-1146|doi=10.1186/1757-1146-4-13}}</ref>]]
__NOTOC__

'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
{{Gout}}
{{CMG}}; {{AE}} {{CZ}}
{{SK}} Urate crystal arthropathy; uric acid crystal deposition in joint; gouty arthritis; podagra
== [[Gout overview|Overview]] ==

== [[Gout historical perspective|Historical Perspective]] ==

== [[Gout pathophysiology|Pathophysiology]]==

== [[Gout differential diagnosis|Differentiating Gout from other Diseases]] ==

== [[Gout epidemiology and demographics|Epidemiology and Demographics]] ==

== [[Gout risk factors|Risk Factors]] ==

== [[Gout screening|Screening]] ==

== [[Gout natural history, complications and prognosis|Natural History, Complications and Prognosis]] ==

==[[Diagnosis]]==

The diagnosis of gout is based upon the identification of intracellular monosodium urate (MSU) crystals in the synovial fluid aspirate of an affected joint, under polarizing light microscopy. But when this is not possible, a clinical diagnosis can be deduced with the help of classical clinical features, including the history and physical examination, laboratory findings, and various imaging studies.

=== Diagnosis of acute gout ===
* While the favored approach is to find MSU crystals in the synovial fluid aspirate of an affected joint, in clinical practice a crystal evaluation is routinely not done. 21288096 15014182.
* When a patient is presenting with classic symptoms of rapid onset (within 24 hours), podagra, swelling, and erythema, supported by the presence of hyperuricemia, a clinical diagnosis of gout can easily be concluded. 16707533 18299687 25789770
* When an arthrocentesis is done, synovial fluid should be examined readily under routine light and polarizing light microscopy and looked for negatively birefringent needle-shaped MSU crystals. 13773775
* In addition, testing for cell counts with differential, gram staining and culture should also be done on the aspirate.
* The sensitivity of this technique in demonstrating negatively birefringent intra- and extracellular crystals in patients with gout flares is at least 85 percent, and the specificity for gout is 100 percent. 856219 16462524. The sensitivity of can be further improved by examination of the sediment in a centrifuged specimen. 10803751

=== Diagnosis of intercritical and tophaceous gout ===
* In patients where a diagnosis of gout wasn’t ascertained during an acute flare, a synovial fluid analysis identifying urate crystals from the previously affected joints would allow a late establishment of the disease.
* Urate crystals are present in synovial fluid of all untreated gouty patients and in approximately 70 percent of those under urate-lowering therapy. 8624633 10577299 444319
* For tophaceous gout, demonstration of urate crystals in aspirates of tophi provides an easy way to confirm the diagnosis 10834006

=== Clinical diagnosis “rule” for acute gout ===
* In patients with acute gout where a diagnosis couldn’t be confirmed due to a negative synovial fluid analysis for MSU crystals, a clinical diagnostic approach can be implemented. 20625017
* This approach utilizes a set of clinical parameters with a scoring value. The parameters are derived from history, clinical presentation, and the laboratory findings. 25231179
* This approach has been shown to improve the accuracy of diagnosis without joint fluid analysis of a gout flare in primary care practice settings 20625017
* The model uses seven variables to calculate a total score to distinguish three levels of risk for gout. These are:
*# Male sex (2 points)
*# Previous patient-reported arthritis flare (2 points)
*# Onset within one day (0.5 points)
*# Joint redness (1 point)
*# First metatarsal phalangeal joint involvement (2.5 points)
*# Hypertension or at least one cardiovascular disease (1.5 points)
*# Serum urate level greater than 5.88 mg/dL (3.5 points)

* Based upon the total score, patients can be identified as having low (≤4 points), intermediate (>4 to <8 points), or high (≥8 points) probability of having acute gout.
* In patients with an intermediate score (>4 but <8 points), a preliminary diagnosis of gout may be made for the purpose of clinical management based upon a prevalent clinical features favoring gout.
* This diagnostic approach is not recommended for patients presenting with oligoarticular and polyarticular arthritis, as it was developed studying patients with monoarthritis seen by family physicians.

{| class="wikitable" align="center"
|+ Accuracy of diagnostic criteria for gout among patients who had [[synovial fluid]] analysis
<ref name="pmid19125136">{{cite journal| author=Malik A, Schumacher HR, Dinnella JE, Clayburne GM| title=Clinical diagnostic criteria for gout: comparison with the gold standard of synovial fluid crystal analysis. | journal=J Clin Rheumatol | year= 2009 | volume= 15 | issue= 1 | pages= 22-4 | pmid=19125136 | doi=10.1097/RHU.0b013e3181945b79 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19125136 }} </ref>
!  !! Criteria!!Sensitivity !! Specificity
|-
| ARA (ACR)||6 of 12 criteria|| align="center" | 70% || align="center" | 79%
|-
| Rome||2 of 4 criteria: • Painful joint swelling, abrupt onset, Clearing in 1-2 weeks initially • Serum uric acid: >7 in males; >6 in females • Presence of tophi • Urate crystals in synovial fluid or tissues|| align="center" | 70% || align="center" | 83%
|-
| New York||2 of 5 criteria: • 2 attacks of painful limb joint swelling • Abrupt onset and remission in 1—2 weeks initially • First MTP attack • Presence of a tophus • Response to colchicine-major reduction in inflammation within 48 h|| align="center" | 67% || align="center" | 89%
|}

{| class="wikitable" align="right"
|+ The serum uric acid level during an attack of gout<ref name="pmid20625017">{{cite journal| author=Janssens HJ, Fransen J, van de Lisdonk EH, van Riel PL, van Weel C, Janssen M| title=A diagnostic rule for acute gouty arthritis in primary care without joint fluid analysis. | journal=Arch Intern Med | year= 2010 | volume= 170 | issue= 13 | pages= 1120-6 | pmid=20625017 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20625017 | doi=10.1001/archinternmed.2010.196 }} </ref><ref name="pmid19369457">{{cite journal |author=Schlesinger N, Norquist JM, Watson DJ |title=Serum urate during acute gout |journal=J. Rheumatol. |volume=36 |issue=6 |pages=1287–9 |year=2009 |month=June |pmid=19369457 |doi=10.3899/jrheum.080938 |url=http://www.jrheum.org/cgi/pmidlookup?view=long&pmid=19369457 |issn=}}</ref>
!  !! Sensitivity !! Specificity
|-
| > 5.88 mg/dl<ref name="pmid20625017" />|| align="center" |95%|| align="center" |53%
|-
| ≥ 6 mg/dl<ref name="pmid19369457" />|| align="center" | 86% || align="center" | ?
|-
| ≥ 8 mg/dl<ref name="pmid19369457" />|| align="center" |68% || align="center" |?
|}

==[[Treatment]]==

==Case Studies==
:[[Gout case study one|Case #1]]

==Related Chapter==
* [[Pseudogout]]

==External Links==
* {{cite web | title=Answers and Questions on Gout| url=http://www.niams.nih.gov/Health_Info/Gout/default.asp | publisher= U.S. [[National Institutes of Health]]—[[National Institute of Arthritis and Musculoskeletal and Skin Diseases]] |date=September 28th, 2007 | accessdate=2007-08-28}}
* {{cite web | title=Coffee Consumption and Reduced Gout Risk | url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=17530645 | work= Drinking coffee reduces risk of gout in middle age men | publisher= U.S. [[National Institutes of Health]] | accessdate=2007-05-25}}

==References==
{{Reflist|2}}

{{Diseases of the musculoskeletal system and connective tissue}}

[[Category:Arthritis]]
[[Category:Rheumatology]]
[[Category:Disease]]
[[Category:Primary care]]

{{WH}}
{{WS}}

[[ar:نقرس]]
[[bg:Подагра]]
[[cs:Dna]]
[[da:Gigt]]
[[de:Gicht]]
[[es:Gota (enfermedad)]]
[[eo:Podagro]]
[[fa:نقرس]]
[[fr:Arthrite goutteuse]]
[[io:Kiragro]]
[[id:Gout]]
[[it:Gotta]]
[[he:שיגדון]]
[[lb:Giicht]]
[[ms:Gout]]
[[nl:Jicht]]
[[ja:痛風]]
[[no:Urinsyregikt]]
[[pl:Dna moczanowa]]
[[pt:Gota (doença)]]
[[ru:Подагра]]
[[sk:Dna]]
[[sr:Гихт]]
[[fi:Kihti]]
[[sv:Gikt]]
[[te:గౌటు]]
[[tr:Gut hastalığı]]
[[zh:痛风]]

Gout

2018-04-27T06:44:50Z

Vellayat Ali: /* Diagnosis */

[[File:Tophaceous gout-Rt-great-toe.jpg|thumb|'''Tophaceous gout affecting the right great toe and finger interphalangeal joints'''. Note the asymmetrical swelling and yellow-white discolouration.<ref name="Roddy2011">{{cite journal|last1=Roddy|first1=Edward|title=Revisiting the pathogenesis of podagra: why does gout target the foot?|journal=Journal of Foot and Ankle Research|volume=4|issue=1|year=2011|issn=1757-1146|doi=10.1186/1757-1146-4-13}}</ref>]]
__NOTOC__

'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
{{Gout}}
{{CMG}}; {{AE}} {{CZ}}
{{SK}} Urate crystal arthropathy; uric acid crystal deposition in joint; gouty arthritis; podagra
== [[Gout overview|Overview]] ==

== [[Gout historical perspective|Historical Perspective]] ==

== [[Gout pathophysiology|Pathophysiology]]==

== [[Gout differential diagnosis|Differentiating Gout from other Diseases]] ==

== [[Gout epidemiology and demographics|Epidemiology and Demographics]] ==

== [[Gout risk factors|Risk Factors]] ==

== [[Gout screening|Screening]] ==

== [[Gout natural history, complications and prognosis|Natural History, Complications and Prognosis]] ==

==[[Diagnosis]]==

The diagnosis of gout is based upon the identification of intracellular monosodium urate (MSU) crystals in the synovial fluid aspirate of an affected joint, under polarizing light microscopy. But when this is not possible, a clinical diagnosis can be deduced with the help of classical clinical features, including the history and physical examination, laboratory findings, and various imaging studies.

=== Diagnosis of acute gout ===
* While the favored approach is to find MSU crystals in the synovial fluid aspirate of an affected joint, in clinical practice a crystal evaluation is routinely not done. 21288096 15014182.
* When a patient is presenting with classic symptoms of rapid onset (within 24 hours), podagra, swelling, and erythema, supported by the presence of hyperuricemia, a clinical diagnosis of gout can easily be concluded. 16707533 18299687 25789770
* When an arthrocentesis is done, synovial fluid should be examined readily under routine light and polarizing light microscopy and looked for negatively birefringent needle-shaped MSU crystals. 13773775
* In addition, testing for cell counts with differential, gram staining and culture should also be done on the aspirate.
* The sensitivity of this technique in demonstrating negatively birefringent intra- and extracellular crystals in patients with gout flares is at least 85 percent, and the specificity for gout is 100 percent. 856219 16462524. The sensitivity of can be further improved by examination of the sediment in a centrifuged specimen. 10803751

=== Diagnosis of intercritical and tophaceous gout ===
* In patients where a diagnosis of gout wasn’t ascertained during an acute flare, a synovial fluid analysis identifying urate crystals from the previously affected joints would allow a late establishment of the disease.
* Urate crystals are present in synovial fluid of all untreated gouty patients and in approximately 70 percent of those under urate-lowering therapy. 8624633 10577299 444319
* For tophaceous gout, demonstration of urate crystals in aspirates of tophi provides an easy way to confirm the diagnosis 10834006

=== Clinical diagnosis “rule” for acute gout ===
* In patients with acute gout where a diagnosis couldn’t be confirmed due to a negative synovial fluid analysis for MSU crystals, a clinical diagnostic approach can be implemented. 20625017
* This approach utilizes a set of clinical parameters with a scoring value. The parameters are derived from history, clinical presentation, and the laboratory findings. 25231179
* This approach has been shown to improve the accuracy of diagnosis without joint fluid analysis of a gout flare in primary care practice settings 20625017
* The model uses seven variables to calculate a total score to distinguish three levels of risk for gout. These are:
*# Male sex (2 points)
*# Previous patient-reported arthritis flare (2 points)
*# Onset within one day (0.5 points)
*# Joint redness (1 point)
*# First metatarsal phalangeal joint involvement (2.5 points)
*# Hypertension or at least one cardiovascular disease (1.5 points)
*# Serum urate level greater than 5.88 mg/dL (3.5 points)

* Based upon the total score, patients can be identified as having low (≤4 points), intermediate (>4 to <8 points), or high (≥8 points) probability of having acute gout.
* In patients with an intermediate score (>4 but <8 points), a preliminary diagnosis of gout may be made for the purpose of clinical management based upon a prevalent clinical features favoring gout.
* This diagnostic approach is not recommended for patients presenting with oligoarticular and polyarticular arthritis, as it was developed studying patients with monoarthritis seen by family physicians.

{| class="wikitable" align="center"
|+ Accuracy of diagnostic criteria for gout among patients who had [[synovial fluid]] analysis
<ref name="pmid19125136">{{cite journal| author=Malik A, Schumacher HR, Dinnella JE, Clayburne GM| title=Clinical diagnostic criteria for gout: comparison with the gold standard of synovial fluid crystal analysis. | journal=J Clin Rheumatol | year= 2009 | volume= 15 | issue= 1 | pages= 22-4 | pmid=19125136 | doi=10.1097/RHU.0b013e3181945b79 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19125136 }} </ref>
!  !! Criteria!!Sensitivity !! Specificity
|-
| ARA (ACR)||6 of 12 criteria|| align="center" | 70% || align="center" | 79%
|-
| Rome||2 of 4 criteria: • Painful joint swelling, abrupt onset, Clearing in 1-2 weeks initially • Serum uric acid: >7 in males; >6 in females • Presence of tophi • Urate crystals in synovial fluid or tissues|| align="center" | 70% || align="center" | 83%
|-
| New York||2 of 5 criteria: • 2 attacks of painful limb joint swelling • Abrupt onset and remission in 1—2 weeks initially • First MTP attack • Presence of a tophus • Response to colchicine-major reduction in inflammation within 48 h|| align="center" | 67% || align="center" | 89%
|}

Several sets of diagnostic criteria exit (see table).<ref name="pmid19125136">{{cite journal| author=Malik A, Schumacher HR, Dinnella JE, Clayburne GM| title=Clinical diagnostic criteria for gout: comparison with the gold standard of synovial fluid crystal analysis. | journal=J Clin Rheumatol | year= 2009 | volume= 15 | issue= 1 | pages= 22-4 | pmid=19125136 | doi=10.1097/RHU.0b013e3181945b79 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19125136 }} </ref>

{| class="wikitable" align="right"
|+ The serum uric acid level during an attack of gout<ref name="pmid20625017">{{cite journal| author=Janssens HJ, Fransen J, van de Lisdonk EH, van Riel PL, van Weel C, Janssen M| title=A diagnostic rule for acute gouty arthritis in primary care without joint fluid analysis. | journal=Arch Intern Med | year= 2010 | volume= 170 | issue= 13 | pages= 1120-6 | pmid=20625017 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20625017 | doi=10.1001/archinternmed.2010.196 }} </ref><ref name="pmid19369457">{{cite journal |author=Schlesinger N, Norquist JM, Watson DJ |title=Serum urate during acute gout |journal=J. Rheumatol. |volume=36 |issue=6 |pages=1287–9 |year=2009 |month=June |pmid=19369457 |doi=10.3899/jrheum.080938 |url=http://www.jrheum.org/cgi/pmidlookup?view=long&pmid=19369457 |issn=}}</ref>
!  !! Sensitivity !! Specificity
|-
| > 5.88 mg/dl<ref name="pmid20625017" />|| align="center" |95%|| align="center" |53%
|-
| ≥ 6 mg/dl<ref name="pmid19369457" />|| align="center" | 86% || align="center" | ?
|-
| ≥ 8 mg/dl<ref name="pmid19369457" />|| align="center" |68% || align="center" |?
|}

A [[clinical prediction rule]] (link to online version<ref name="pmid26926810">{{cite journal| author=Sylvester JE, Leggit JC| title=Diagnostic Tool for Gout Without Need for Joint Fluid Aspiration. | journal=Am Fam Physician | year= 2016 | volume= 93 | issue= 4 | pages= 256-8 | pmid=26926810 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26926810 }} </ref>) found that the following predicted urate crystals by aspiration:<ref name="pmid20625017">{{cite journal| author=Janssens HJ, Fransen J, van de Lisdonk EH, van Riel PL, van Weel C, Janssen M| title=A diagnostic rule for acute gouty arthritis in primary care without joint fluid analysis. | journal=Arch Intern Med | year= 2010 | volume= 170 | issue= 13 | pages= 1120-6 | pmid=20625017 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20625017 | doi=10.1001/archinternmed.2010.196 }} </ref>
* Male
* Onset within one day
* Joint redness
* First metatarsaophalangeal joint
* Previous arthritis attack per patient
* History of hypertension or 1 or more [[cardiovascular disease]]s
* Serum [[uric acid]] level > 5.88 mg/dl

However, among patients with high scores, 20% did not have crystals. Only one of 381 patients had bacterial arthritis.

==[[Treatment]]==

==Case Studies==
:[[Gout case study one|Case #1]]

==Related Chapter==
* [[Pseudogout]]

==External Links==
* {{cite web | title=Answers and Questions on Gout| url=http://www.niams.nih.gov/Health_Info/Gout/default.asp | publisher= U.S. [[National Institutes of Health]]—[[National Institute of Arthritis and Musculoskeletal and Skin Diseases]] |date=September 28th, 2007 | accessdate=2007-08-28}}
* {{cite web | title=Coffee Consumption and Reduced Gout Risk | url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=17530645 | work= Drinking coffee reduces risk of gout in middle age men | publisher= U.S. [[National Institutes of Health]] | accessdate=2007-05-25}}

==References==
{{Reflist|2}}

{{Diseases of the musculoskeletal system and connective tissue}}

[[Category:Arthritis]]
[[Category:Rheumatology]]
[[Category:Disease]]
[[Category:Primary care]]

{{WH}}
{{WS}}

[[ar:نقرس]]
[[bg:Подагра]]
[[cs:Dna]]
[[da:Gigt]]
[[de:Gicht]]
[[es:Gota (enfermedad)]]
[[eo:Podagro]]
[[fa:نقرس]]
[[fr:Arthrite goutteuse]]
[[io:Kiragro]]
[[id:Gout]]
[[it:Gotta]]
[[he:שיגדון]]
[[lb:Giicht]]
[[ms:Gout]]
[[nl:Jicht]]
[[ja:痛風]]
[[no:Urinsyregikt]]
[[pl:Dna moczanowa]]
[[pt:Gota (doença)]]
[[ru:Подагра]]
[[sk:Dna]]
[[sr:Гихт]]
[[fi:Kihti]]
[[sv:Gikt]]
[[te:గౌటు]]
[[tr:Gut hastalığı]]
[[zh:痛风]]

Gout diagnostic study of choice

2018-04-27T06:30:01Z

Vellayat Ali: /* Diagnostic Study of Choice */

__NOTOC__
{{Gout}}
{{CMG}}; {{AE}}
== Overview ==

== Diagnostic Study of Choice ==
* The diagnostic standard is synovial fluid or tophus aspiration with identification of monosodium urate crystals.
* Synovial fluid is aspirated off the inflamed joint by careful arthrocentesis.
* The sample is then analyzed for characteristic negatively birefringent monosodium urate crystals which appear needle-like structures of 1–20 μm in length under polarized microscopy. This is central to confirm the diagnosis of gout. 22303530 18299687

==References==
{{Reflist|2}}
{{WH}}
{{WS}}

Gout

2018-04-25T23:00:42Z

Vellayat Ali:

Gout

2018-04-25T22:58:28Z

Vellayat Ali:

2018-04-03T15:37:10Z

Vellayat Ali: /* X-ray */

__NOTOC__
{{Gout}}
{{CMG}}

Please help WikiDoc by adding more content here. It's easy! Click [[Help:How_to_Edit_a_Page|here]] to learn about editing.

==Overview==
An x-ray is done when gout is suspected to rule out other abnormalities of the bone that may be causing the pain. Most commonly in gout, the x-ray will show no abnormalities, or a small amount of soft tissue swelling.

==X-ray==
Plain film radiography may be used to evaluate gout; however, radiographic imaging findings generally do not appear until after at least 1 year of uncontrolled disease. The classic radiographic finding of gout late in disease is that of punched-out or rat-bite erosions with overhanging edges and sclerotic margins. [[null 11]]

Nuclear medicine studies can be used as a tool to measure the extent of gouty arthritis and to confirm clinically suspected disease. Characteristic findings include increased activity in the affected areas in all phases of a triple-phase bone scan.

Ultrasonography for the diagnosis of gout has advantages in that it is easily available and portable and doesn't require ionizing radiation. However, its limitation include being unable to image deep structures or joint and is highly operator dependent. [[null 11]] Findings include the double-contour sign (hyperechoic irregular enhancement over the surface of the hyaline cartilage) and can identify tophus deposition in and around joints, erosions, and tissue inflammation if power Doppler US is used. [[null 14], [null 15], [null 3], [null 13]] According to the Agency for Healthcare Research and Quality (AHRQ), 4 ultrasound studies on gout showed sensitivities that ranged from 37-100% and specificities that ranged from 68-97%. [[null 12]]

CT scanning can be used to study the effects of gout in areas that are hard to visualize with plain-film radiography. Many studies have been performed using dual-energy CT with good results, providing visualization, characterization, and quantification of monosodium urate crystals. [[null 16], [null 17], [null 18], [null 11], [null 19], [null 4]] DECT scanners are able to perform simultaneous acquisitions at 80 and 140 kVp using two separate sets of x‐ray tubes and detectors positioned 90 to 95 degrees apart, thereby differentiating materials based on their relative absorption of x‐rays at the different photon energy levels. [[null 11]] According to the AHRQ, DECT has shown good sensitivity and specificity for predicting gout compared with synovial fluid analysis for monosodium urate crystals, with 3 studies showing sensitivities that ranged from 85-100% and specificities that ranged from 83-92%.

The goal of joint X Ray is to rule out other diseases that affect the joint. The most common radiographic findings in patients with gout include soft-tissue swelling or an absence of abnormalities.

'''Patient #1'''
<gallery>
Image:

Gout-hand-001.jpg

Image:

Gout-hand-002.jpg

Image:

Gout-hand-003.jpg

Image:

Gout-hand-004.jpg

</gallery>

'''Patient #2'''
<gallery>
Image:

Gout-101.jpg

Image:

Gout-103.jpg

Image:

Gout-102.jpg

</gallery>
==Sources==
Copyleft images obtained courtesy of RadsWiki [http://www.radswiki.net]

==References==
{{Reflist|2}}

[[Category:Needs content]]
[[Category:Arthritis]]
[[Category:Rheumatology]]
[[Category:Disease]]
[[Category:Primary care]]

{{WH}}
{{WS}}

Sandbox:Vellayat

2018-03-09T18:24:18Z

Vellayat Ali:

Sandbox:Vellayat

2018-03-09T16:08:12Z

Vellayat Ali:

__NOTOC__

{{CMG}}; {{AE}} {{VA}}

{| class="wikitable"
|-
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Type of respiratory failure
! colspan="2" rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Causes/Etiology
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Onset
! colspan="5" style="background:#4479BA; color: #FFFFFF;" align="center" + |Clinical manifestations
! colspan="2" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Investigations
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Gold standard
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Other features
|-
! colspan="4" |Symptoms
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Physical exam
|-
!Dyspnea
!Cough
!Fever
!Others findings
!Imaging
!Labs
|-
| rowspan="7" |'''Hypoxic respiratory failure (Type 1 respiratory failure)'''
|[[Cardiogenic pulmonary edema|'''Cardiogenic pulmonary edema''']]
|[[Acute decompensated heart failure|'''Acute decompensated heart failure''']]'''<ref name="pmid20937981">{{cite journal |vauthors=Weintraub NL, Collins SP, Pang PS, Levy PD, Anderson AS, Arslanian-Engoren C, Gibler WB, McCord JK, Parshall MB, Francis GS, Gheorghiade M |title=Acute heart failure syndromes: emergency department presentation, treatment, and disposition: current approaches and future aims: a scientific statement from the American Heart Association |journal=Circulation |volume=122 |issue=19 |pages=1975–96 |year=2010 |pmid=20937981 |doi=10.1161/CIR.0b013e3181f9a223 |url=}}</ref><ref name="pmid15477431">{{cite journal |vauthors=Doust JA, Glasziou PP, Pietrzak E, Dobson AJ |title=A systematic review of the diagnostic accuracy of natriuretic peptides for heart failure |journal=Arch. Intern. Med. |volume=164 |issue=18 |pages=1978–84 |year=2004 |pmid=15477431 |doi=10.1001/archinte.164.18.1978 |url=}}</ref>''' <ref name="pmid28461259">{{cite journal |vauthors=Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE, Colvin MM, Drazner MH, Filippatos GS, Fonarow GC, Givertz MM, Hollenberg SM, Lindenfeld J, Masoudi FA, McBride PE, Peterson PN, Stevenson LW, Westlake C |title=2017 ACC/AHA/HFSA Focused Update of the 2013 ACCF/AHA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Failure Society of America |journal=J. Card. Fail. |volume=23 |issue=8 |pages=628–651 |date=August 2017 |pmid=28461259 |doi=10.1016/j.cardfail.2017.04.014 |url=}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>+</nowiki> with frothy expectoration
| +/-
|
* nausea and anorexia

* confusion
* headaches
|
* [[Wheezing]]
* Increased [[pulse rate]]
* [[Crackles]]
* Pedal edema
* Elevated [[Jugular venous pressure|JVP]]
* [[Obtundation]]
* Enlarged liver
|
* [[Cardiomegaly]] and [[interstitial edema]] in [[Chest X-ray|chest radiograph]]
* Echocardiography
|
* Pulse oximetry
* Assays for BNP (B-type natriuretic peptide) and NT-proBNP (N-terminal pro-B-type natriuretic peptide)
* Cardiac troponin levels
* [[ST]] and [[T wave|T waves]] abnormalities in [[ECG]]
|
* Clinical diagnosis
|
* History of heart disease, hypertension
|-
| rowspan="4" |'''Non cardiogenic [[pulmonary edema]]'''
|'''[[Acute respiratory distress syndrome|Adult respiratory distress syndrome]] ([[ARDS]]) <ref name="pmid22797452">{{cite journal |vauthors=Ranieri VM, Rubenfeld GD, Thompson BT, Ferguson ND, Caldwell E, Fan E, Camporota L, Slutsky AS |title=Acute respiratory distress syndrome: the Berlin Definition |journal=JAMA |volume=307 |issue=23 |pages=2526–33 |year=2012 |pmid=22797452 |doi=10.1001/jama.2012.5669 |url=}}</ref>'''
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>+/-</nowiki>
|<nowiki>+/-</nowiki>
|
* [[Cyanosis]]
|
* [[Tachypnea]]
* [[Tachycardia]]
* Diffuse [[crackles]]
|
* Diffuse, bilateral, alveolar infiltrates without [[cardiomegaly]] in chest radiograph
* Bilateral opacities in [[Computed tomography|CT]]
|
* [[Hypoxemia]] with acute [[respiratory alkalosis]] in [[Arterial blood gas|arterial blood gases]]
|
* Clinical diagnosis with supportive test
|
According to Berlin definition:
* One week of new or worse respiratory symptoms or clinical insult
* Symptoms can not be explained by [[Heart|cardiac]] disease
* Bilateral opacities in [[Chest X-ray|chest X-Ray]] or [[Computed tomography|CT]]
* Compromised [[oxygenation]]
|-
|'''High-Altitude Pulmonary edema ([[HAPE]])''' <ref name="Ma2013">{{cite journal|last1=Ma|first1=Qing|title=Acute respiratory distress syndrome secondary to High-altitude pulmonary edema: A diagnostic study|journal=Journal of Medical Laboratory and Diagnosis|volume=4|issue=1|year=2013|pages=1–7|issn=2141-2618|doi=10.5897/JMLD12.007}}</ref>
|
* Acute
|<nowiki>+</nowiki>
| + with frothy expectoration
| +
|
* [[Chest tightness]]
* Decreased exercise performance
|
* [[Wheeze|Wheezing]]
|
* Chest X-ray may show patchy [[alveolar]] infiltrates, predominantly in the right central hemithorax, which become more confluent and bilateral as the illness progresses
|
* High levels of [[white blood cell count]]
* Decreased of [[oxygen saturation]]
|
* Clinical diagnosis with supportive test
|
* Occurrs over 2500 m
* Descent is mandatory in >4000 m
|-
|'''Neurogenic pulmonary edema <ref name="pmid22429697">{{cite journal |vauthors=Davison DL, Terek M, Chawla LS |title=Neurogenic pulmonary edema |journal=Crit Care |volume=16 |issue=2 |pages=212 |year=2012 |pmid=22429697 |pmc=3681357 |doi=10.1186/cc11226 |url=}}</ref>''' <ref name="DavisonTerek2012">{{cite journal|last1=Davison|first1=Danielle L|last2=Terek|first2=Megan|last3=Chawla|first3=Lakhmir S|title=Neurogenic pulmonary edema|journal=Critical Care|volume=16|issue=2|year=2012|pages=212|issn=1364-8535|doi=10.1186/cc11226}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>+/- with frothy expectoration</nowiki>
|<nowiki>+/-</nowiki>
|
* [[Hemoptysis]]
|
* [[Rales]]
* Bilateral [[crackles]]
|
* Bilateral hyperdense infiltration in [[Chest X-ray|chest X-Ray]]
|
* CBC may show [[Leukocytosis]]
* Bilateral hyperdense infiltrations on [[Chest X-ray|chest X-Ray]]
|
* Diagnosis of exclusion
* A proposed criteria is as follows
** Bilateral infiltrates
** PaO2/FiO2 ratio < 200
** No evidence of left atrial hypertension
** Presence of CNS injury
** Absence of other common causes of acute respiratory distress or ARDS
|
* Major causes of NPE are [[Epileptic seizure|epileptic]] [[Seizure|seizures]], [[Brain|cerebral]] [[Bleeding|hemorrhages]] and [[Brain damage|brain injury]]
|-
|[[Pulmonary embolism|'''Pulmonary embolism''']] <ref name="pmid8549223">{{cite journal |vauthors=Stein PD, Goldhaber SZ, Henry JW, Miller AC |title=Arterial blood gas analysis in the assessment of suspected acute pulmonary embolism |journal=Chest |volume=109 |issue=1 |pages=78–81 |year=1996 |pmid=8549223 |doi= |url=}}</ref> <ref name="pmid17848685">{{cite journal |vauthors=Remy-Jardin M, Pistolesi M, Goodman LR, Gefter WB, Gottschalk A, Mayo JR, Sostman HD |title=Management of suspected acute pulmonary embolism in the era of CT angiography: a statement from the Fleischner Society |journal=Radiology |volume=245 |issue=2 |pages=315–29 |year=2007 |pmid=17848685 |doi=10.1148/radiol.2452070397 |url=}}</ref>
|
* Acute
* Sub-acute
* Chronic
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|<nowiki>+/-</nowiki>
|
* [[Chest pain]]
* [[Orthopnea]]
|
* [[Wheeze|Wheezing]]
* [[Tachypnea]]
* [[Edema]]
* Decreased [[Breathing|breath]] sounds
* [[Tachycardia]]
|
* Hamptom and Westermark sign may be seen in [[Chest X-ray|chest X-Ra]]<nowiki/>y
|
* [[Leukocytosis]], elevated [[Erythrocyte sedimentation rate|erythrocyte sedimentation]] and [[lactic acid]] in [[complete blood count]]
* [[Hypoxemia]] in [[arterial blood gas]]
* [[D-dimer]] to rule out other diseases
* [[Tachycardia]] and abnormalities in [[ST-segment]] and [[T wave|T waves]] are observed in [[The electrocardiogram|ECG]]
* VQ scan
|
* Computed tomography pulmonary angiogram [[CT pulmonary angiogram|(CTPA)]] or catheter based [[pulmonary angiography]]
|
* [[Venous thromboembolism]] ([[VTE]])
|-
| colspan="2" |'''[[Pneumonia]]<ref name="pmid16912951">{{cite journal |vauthors=Bauer TT, Ewig S, Rodloff AC, Müller EE |title=Acute respiratory distress syndrome and pneumonia: a comprehensive review of clinical data |journal=Clin. Infect. Dis. |volume=43 |issue=6 |pages=748–56 |year=2006 |pmid=16912951 |doi=10.1086/506430 |url=}}</ref>''' <ref name="pmid172780832">{{cite journal |vauthors=Mandell LA, Wunderink RG, Anzueto A, Bartlett JG, Campbell GD, Dean NC, Dowell SF, File TM, Musher DM, Niederman MS, Torres A, Whitney CG |title=Infectious Diseases Society of America/American Thoracic Society consensus guidelines on the management of community-acquired pneumonia in adults |journal=Clin. Infect. Dis. |volume=44 Suppl 2 |issue= |pages=S27–72 |year=2007 |pmid=17278083 |doi=10.1086/511159 |url=}}</ref>
|
* Acute
| +
| + with sputum production
|<nowiki>+</nowiki>
|
* Pleuritic chest pain
|
* [[Egophony]]
* [[Crackles]]
* [[Tactile fremitus]]
* Bronchial breath sounds
|
* Infiltration in [[Chest X-ray|chest X-Ray]]
|
* [[Leukocytosis]]
* [[Sputum cultures|Sputum culture]] & sensitivity
|
* Clinical manifestations and infiltration [[Chest X-ray|chest X-Ray]] with or without microbiological test
|
* [[Community-acquired pneumonia]]
* [[Hospital-acquired pneumonia]]
* [[Healthcare-associated pneumonia]]
* [[Ventilator-associated pneumonia]]
* [[Aspiration pneumonia]]
|-
| colspan="2" |'''Idiopatic chronic lung fibrosis<ref name="pmid18757459">{{cite journal |vauthors=Bradley B, Branley HM, Egan JJ, Greaves MS, Hansell DM, Harrison NK, Hirani N, Hubbard R, Lake F, Millar AB, Wallace WA, Wells AU, Whyte MK, Wilsher ML |title=Interstitial lung disease guideline: the British Thoracic Society in collaboration with the Thoracic Society of Australia and New Zealand and the Irish Thoracic Society |journal=Thorax |volume=63 Suppl 5 |issue= |pages=v1–58 |year=2008 |pmid=18757459 |doi=10.1136/thx.2008.101691 |url=}}</ref>''' <ref name="pmid19304475">{{cite journal |vauthors=Mittoo S, Gelber AC, Christopher-Stine L, Horton MR, Lechtzin N, Danoff SK |title=Ascertainment of collagen vascular disease in patients presenting with interstitial lung disease |journal=Respir Med |volume=103 |issue=8 |pages=1152–8 |date=August 2009 |pmid=19304475 |doi=10.1016/j.rmed.2009.02.009 |url=}}</ref> <ref name="pmid21471066">{{cite journal |vauthors=Raghu G, Collard HR, Egan JJ, Martinez FJ, Behr J, Brown KK, Colby TV, Cordier JF, Flaherty KR, Lasky JA, Lynch DA, Ryu JH, Swigris JJ, Wells AU, Ancochea J, Bouros D, Carvalho C, Costabel U, Ebina M, Hansell DM, Johkoh T, Kim DS, King TE, Kondoh Y, Myers J, Müller NL, Nicholson AG, Richeldi L, Selman M, Dudden RF, Griss BS, Protzko SL, Schünemann HJ |title=An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management |journal=Am. J. Respir. Crit. Care Med. |volume=183 |issue=6 |pages=788–824 |date=March 2011 |pmid=21471066 |pmc=5450933 |doi=10.1164/rccm.2009-040GL |url=}}</ref> <ref name="ShawCollins2015">{{cite journal|last1=Shaw|first1=Megan|last2=Collins|first2=Bridget F.|last3=Ho|first3=Lawrence A.|last4=Raghu|first4=Ganesh|title=Rheumatoid arthritis-associated lung disease|journal=European Respiratory Review|volume=24|issue=135|year=2015|pages=1–16|issn=0905-9180|doi=10.1183/09059180.00008014}}</ref>
|
* Chronic
|<nowiki>+</nowiki>
| + '''without''' any sputum production
| +/-
|
* symptoms suggestive of [[Rheumatic disease|rheumatic]] diseases may be present
|
* [[Clubbing]] of the digits
* Bibasilar [[Crackles]]
|
* [[Reticular|Reticula]]<nowiki/>r or nodular pattern in chest X-Ray
* [[High Resolution CT|HRCT]] may show reticular opacities, including honeycomb changes and traction [[bronchiectasis]]
|
* Serological tests e.g. [[Antinuclear antibodies|ANA]], [[RF]] for underlying rheumatological diseases

* Reduced [[FEV1/FVC ratio|FEV1]] and [[Vital capacity|FVC]] on spirometry
|
* Clinical presentation in combinations with HRCT findings
* Lung [[biopsy]] when lab, imaging and PFT do not yield enough evidence
|
* History of cigarette smoking
|-
| rowspan="5" |'''Hypercapnic respiratory failure (Type 2 respiratory failure)'''
| colspan="2" |[[Chronic obstructive pulmonary disease|COPD]] <ref name="pmid18453367">{{cite journal |vauthors=MacIntyre N, Huang YC |title=Acute exacerbations and respiratory failure in chronic obstructive pulmonary disease |journal=Proc Am Thorac Soc |volume=5 |issue=4 |pages=530–5 |date=May 2008 |pmid=18453367 |pmc=2645331 |doi=10.1513/pats.200707-088ET |url=}}</ref> <ref name="Calverley2003">{{cite journal|last1=Calverley|first1=P.M.A.|title=Respiratory failure in chronic obstructive pulmonary disease|journal=European Respiratory Journal|volume=22|issue=Supplement 47|year=2003|pages=26s–30s|issn=0903-1936|doi=10.1183/09031936.03.00030103}}</ref>
|
* Acute

* Chronic

* Acute-on-chronic
|<nowiki>+</nowiki>
| +
|<nowiki>+/-</nowiki>
|
* Exercise intolerance

* Acute exacerbation may affect [[CNS]], ranging from irritability to decreased responsiveness
|
* [[Clubbing]]
* [[Tachypnea]]
* Barrel shaped chest
* Decreased breath sounds with prolonged expiration
* [[Rhonchi]] and [[Wheeze]]
* Use of accessory respiratory muscles
* Increased [[Jugular venous pressure|JVP]], peripheral [[edema]] may manifest with right [[Ventricular|ventricula]]<nowiki/>r overload during an acute exacerbation
|
* Chest X-ray may show hyperinflation, flattened [[diaphragm]], rapid tapering of vascular markings
* CT scan helps to correlate with COPD prognosis
|
* PFTs: (FEV1/FVC) <70% of predicted

* ABGs: Mild to moderate [[hypoxemia]], hypercapnia with progression of disease, pH is around normal, < 7.3 points to [[respiratory acidosis]]
|
* Clinical diagnosis with supportive test
|
* CNS symptoms may be the only manifestation in elderly with baseline [[hypercapnia]]
|-
| colspan="2" |[[Status asthmaticus|Severe Asthma/Status Asthmaticus]] <ref name="urlGuidelines for the Diagnosis and Management of Asthma (EPR-3) | National Heart, Lung, and Blood Institute (NHLBI)">{{cite web |url=https://www.nhlbi.nih.gov/health-topics/guidelines-for-diagnosis-management-of-asthma |title=Guidelines for the Diagnosis and Management of Asthma (EPR-3) | National Heart, Lung, and Blood Institute (NHLBI) |format= |work= |accessdate=}}</ref> <ref name="ThomsonChaudhuri2013">{{cite journal|last1=Thomson|first1=Neil C.|last2=Chaudhuri|first2=Rekha|last3=Messow|first3=C. Martina|last4=Spears|first4=Mark|last5=MacNee|first5=William|last6=Connell|first6=Martin|last7=Murchison|first7=John T.|last8=Sproule|first8=Michael|last9=McSharry|first9=Charles|title=Chronic cough and sputum production are associated with worse clinical outcomes in stable asthma|journal=Respiratory Medicine|volume=107|issue=10|year=2013|pages=1501–1508|issn=09546111|doi=10.1016/j.rmed.2013.07.017}}</ref>
|
* Acute
|<nowiki>+</nowiki>
| +
|<nowiki>-</nowiki>
|
* Chest tightness
* Audible wheeze
|
* [[Tachypnea]]
* [[Tachycardia]]
* Wheezing
* Use of accessory respiratory muscles
* Unable to speak full sentences
* [[Orthopnea]]
* [[Pulsus paradoxus]]
|
* Chest X-ray not required in acute conditions, may show hyperinflation
|
* PEF <40 percent predicted or personal best

* [[Pulse oximetry]]
* [[Arterial blood gas|ABGs]]
|
* Clinical diagnosis
|
* History of [[bronchial asthma]]
|-
| colspan="2" |Drug Overdose (opioid toxicity) <ref name="pmid7629986">{{cite journal |vauthors=Hoffman RS, Goldfrank LR |title=The poisoned patient with altered consciousness. Controversies in the use of a 'coma cocktail' |journal=JAMA |volume=274 |issue=7 |pages=562–9 |date=August 1995 |pmid=7629986 |doi= |url=}}</ref> <ref name="WilsonSaukkonen2016">{{cite journal|last1=Wilson|first1=Kevin C.|last2=Saukkonen|first2=Jussi J.|title=Acute Respiratory Failure from Abused Substances|journal=Journal of Intensive Care Medicine|volume=19|issue=4|year=2016|pages=183–193|issn=0885-0666|doi=10.1177/0885066604263918}}</ref> <ref name="Boyer2012">{{cite journal|last1=Boyer|first1=Edward W.|title=Management of Opioid Analgesic Overdose|journal=New England Journal of Medicine|volume=367|issue=2|year=2012|pages=146–155|issn=0028-4793|doi=10.1056/NEJMra1202561}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|
* Nausea and vomiting

* Constipation

* Seizures
|
* Classic triad suggesting opioid toxicity consist of respiratory depression, pinpoint pupils, and altered mental state
* [[Conjunctiva|Conjunctival]] injection,
* Decreased [[bowel]] sounds
* [[Euphoria]]
|
* Chest X-ray usually not required, may show signs of [[acute lung injury]]
|
* Urine toxicology screen: may reveal polysubstance abuse
|
* Clinical diagnosis with supportive test
|
* Toxicity from [[antipsychotics]], [[anticonvulsants]], [[ethanol]], and [[sedatives]] can result in [[miosis]] and altered mentation, but respiratory depression is usually absent
|-
| colspan="2" |[[Myasthenic crisis]] <ref name="pmid2382251">{{cite journal |vauthors=Mier A, Laroche C, Green M |title=Unsuspected myasthenia gravis presenting as respiratory failure |journal=Thorax |volume=45 |issue=5 |pages=422–3 |date=May 1990 |pmid=2382251 |pmc=462503 |doi= |url=}}</ref> <ref name="pmid20195411">{{cite journal |vauthors=Kim WH, Kim JH, Kim EK, Yun SP, Kim KK, Kim WC, Jeong HC |title=Myasthenia gravis presenting as isolated respiratory failure: a case report |journal=Korean J. Intern. Med. |volume=25 |issue=1 |pages=101–4 |date=March 2010 |pmid=20195411 |pmc=2829406 |doi=10.3904/kjim.2010.25.1.101 |url=}}</ref> <ref name="pmid9153452">{{cite journal |vauthors=Thomas CE, Mayer SA, Gungor Y, Swarup R, Webster EA, Chang I, Brannagan TH, Fink ME, Rowland LP |title=Myasthenic crisis: clinical features, mortality, complications, and risk factors for prolonged intubation |journal=Neurology |volume=48 |issue=5 |pages=1253–60 |date=May 1997 |pmid=9153452 |doi= |url=}}</ref> <ref name="pmid12870111">{{cite journal |vauthors=Rabinstein AA, Wijdicks EF |title=Warning signs of imminent respiratory failure in neurological patients |journal=Semin Neurol |volume=23 |issue=1 |pages=97–104 |date=March 2003 |pmid=12870111 |doi=10.1055/s-2003-40757 |url=}}</ref> <ref name="pmid23983833">{{cite journal |vauthors=Wendell LC, Levine JM |title=Myasthenic crisis |journal=Neurohospitalist |volume=1 |issue=1 |pages=16–22 |date=January 2011 |pmid=23983833 |pmc=3726100 |doi=10.1177/1941875210382918 |url=}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>+/-</nowiki>
|<nowiki>+/-</nowiki>
|
* Inability to cough
* [[Bulbar dysfunction|Bulbar weakness]]: [[dysphagia]], nasal regurgitation, a nasal quality to speech, staccato speech, jaw weakness, bi-facial [[paresis]], and tongue weakness
|
* Expressionless face with droopy eyelids and mouth
* Use of accessory muscles of respiration i.e. [[external intercostal muscles]], [[Sternocleidomastoid muscle|sternocleidomastoid]], [[scalene muscles]]
* Rapid and shallow breathing
|
* Chest X-ray findings depicting bacterial [[pneumonia]] and/or [[aspiration]] may be observed
|
* [[Pulse oximetry|Pulse Oximetry]]
* [[Arterial blood gas|ABGs]]
* [[Complete blood count|CBC]]: Infective cause precipitating the crisis may be observed
* Tensilon (edorphonium) test
|
* Clinical diagnosis with supportive test
|
* Known case of [[Myasthenia gravis|Myasthenia Gravis]]
* In some cases, [[respiratory failure]] may be the presenting symptom
|-
| colspan="2" |[[Guillain-Barré syndrome]] <ref name="pmid9443451">{{cite journal |vauthors=Wijdicks EF, Borel CO |title=Respiratory management in acute neurologic illness |journal=Neurology |volume=50 |issue=1 |pages=11–20 |date=January 1998 |pmid=9443451 |doi= |url=}}</ref> <ref name="pmid16934165">{{cite journal |vauthors=Mehta S |title=Neuromuscular disease causing acute respiratory failure |journal=Respir Care |volume=51 |issue=9 |pages=1016–21; discussion 1021–3 |date=September 2006 |pmid=16934165 |doi= |url=}}</ref> <ref name="pmid11405806">{{cite journal |vauthors=Gordon PH, Wilbourn AJ |title=Early electrodiagnostic findings in Guillain-Barré syndrome |journal=Arch. Neurol. |volume=58 |issue=6 |pages=913–7 |date=June 2001 |pmid=11405806 |doi= |url=}}</ref> <ref name="pmid677829">{{cite journal |vauthors= |title=Criteria for diagnosis of Guillain-Barré syndrome |journal=Ann. Neurol. |volume=3 |issue=6 |pages=565–6 |date=June 1978 |pmid=677829 |doi=10.1002/ana.410030628 |url=}}</ref> <ref name="ByunPark1998">{{cite journal|last1=Byun|first1=W M|last2=Park|first2=W K|last3=Park|first3=B H|last4=Ahn|first4=S H|last5=Hwang|first5=M S|last6=Chang|first6=J C|title=Guillain-Barré syndrome: MR imaging findings of the spine in eight patients.|journal=Radiology|volume=208|issue=1|year=1998|pages=137–141|issn=0033-8419|doi=10.1148/radiology.208.1.9646804}}</ref> <ref name="IwataUtsumi1997">{{cite journal|last1=Iwata|first1=F.|last2=Utsumi|first2=Y.|title=MR imaging in Guillain-Barré syndrome|journal=Pediatric Radiology|volume=27|issue=1|year=1997|pages=36–38|issn=0301-0449|doi=10.1007/s002470050059}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|<nowiki>+/-</nowiki>
|
* Difficulty walking (ascending symmetric muscular weakness)

* [[Paresthesias]] in hands and feet

* Back pain
* Pain in extremities
|
* [[Dysautonomia]] (tachycardia/bradycardia, hypertension/hypotension, [[urinary retention]])

* Diminished or absent deep tendon reflexes

* Limb weakness (first lower then upper limbs)
* [[Facial droop]] (Facial nerve palsy)
* [[Ophthalmoparesis]] (3rd & 6th nerve palsies)
* Decreased breath sounds
* Decreased bowel sounds
|
* MRI Spine: thickening of [[intrathecal]] [[Spinal cord|spinal]] [[Nerve root|nerve roots]] and [[cauda equina]]
|
* CSF analysis: Albuminocytologic dissociation
* Nerve conduction studies may show conduction block, slowed motor conduction velocities and delayed latencies
* [[PFTs]]: [[Vital Capacity]], maximum inspiratory pressure (PImax) and maximum expiratory pressure (PEmax) should be followed to determine appropriate timing of intubation and [[mechanical ventilation]]
|
* Clinical diagnosis with supportive test
|
* Signs depicting [[respiratory failure]] occur late, early manifestations are [[tachypnea]], tachycardia, air hunger, broken sentences, and a need to pause between sentences
* Use of the accessory respiratory muscles, paradoxical breathing, and [[orthopnea]] indicate severe [[Diaphragm|diaphragmatic]] weakness
|-
|'''Perioperative respiratory failure (Type 3 respiratory failure)'''
| colspan="2" |'''Post-operative [[atelectasis]] <ref name="pmid8820021">{{cite journal |vauthors=Woodring JH, Reed JC |title=Types and mechanisms of pulmonary atelectasis |journal=J Thorac Imaging |volume=11 |issue=2 |pages=92–108 |year=1996 |pmid=8820021 |doi= |url=}}</ref>''' <ref name="urlAtelectasis | National Heart, Lung, and Blood Institute (NHLBI)">{{cite web |url=https://www.nhlbi.nih.gov/health-topics/atelectasis |title=Atelectasis | National Heart, Lung, and Blood Institute (NHLBI) |format= |work= |accessdate=}}</ref> <ref name="RayBodenham2014">{{cite journal|last1=Ray|first1=Komal|last2=Bodenham|first2=Andrew|last3=Paramasivam|first3=Elankumaran|title=Pulmonary atelectasis in anaesthesia and critical care|journal=Continuing Education in Anaesthesia Critical Care & Pain|volume=14|issue=5|year=2014|pages=236–245|issn=17431816|doi=10.1093/bjaceaccp/mkt064}}</ref> <ref name="SachdevNapolitano2012">{{cite journal|last1=Sachdev|first1=Gaurav|last2=Napolitano|first2=Lena M.|title=Postoperative Pulmonary Complications: Pneumonia and Acute Respiratory Failure|journal=Surgical Clinics of North America|volume=92|issue=2|year=2012|pages=321–344|issn=00396109|doi=10.1016/j.suc.2012.01.013}}</ref> <ref name="pmid9742334">{{cite journal |vauthors=Massard G, Wihlm JM |title=Postoperative atelectasis |journal=Chest Surg. Clin. N. Am. |volume=8 |issue=3 |pages=503–28, viii |date=August 1998 |pmid=9742334 |doi= |url=}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>+/-</nowiki>
|<nowiki>+/-</nowiki>
|
* Asyptomatic or increase work of [[breathing]]
|
* [[Tachypnea]]
* [[Tachycardia]]
* Decreased movement in the affected lung area
* Dullness percussion note
* Absent breath sounds Tracheal deviation to affected side
|
* Chest X-ray may show increased density and reduced volume

* CT chest accurately shows the involved segment
|
* Pulse oximetry
* ABGs
|
* Clinical diagnosis with support of radiographic findings
|
*History of abdominal or thoracic surgery
|-
|'''Type 4 respiratory failure'''
| colspan="2" |'''[[Shock]]<ref name="pmid24171518">{{cite journal |vauthors=Vincent JL, De Backer D |title=Circulatory shock |journal=N. Engl. J. Med. |volume=369 |issue=18 |pages=1726–34 |year=2013 |pmid=24171518 |doi=10.1056/NEJMra1208943 |url=}}</ref>''' <ref name="pmid10985707">{{cite journal |vauthors=Menon V, White H, LeJemtel T, Webb JG, Sleeper LA, Hochman JS |title=The clinical profile of patients with suspected cardiogenic shock due to predominant left ventricular failure: a report from the SHOCK Trial Registry. SHould we emergently revascularize Occluded Coronaries in cardiogenic shocK? |journal=J. Am. Coll. Cardiol. |volume=36 |issue=3 Suppl A |pages=1071–6 |year=2000 |pmid=10985707 |doi= |url=}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|<nowiki>+/-</nowiki>
|
* [[Oliguria]]
* Abnormal [[mental status]]
* [[Cool extremities|Clammy skin]]
* Cool extremities
|
* [[Hypotension]]
* [[Tachycardia]]
* [[Tachypnea]]
* [[Rales]]
* Gallop rythm
|
* Visible [[congestion]] in [[Chest X-ray|chest X-Ray]]
|
* [[EKG|Electrocardigogram]]
* Increased levels of [[lactic acid]]
* Low levels of [[Bicarbonate]]
* [[Echocardiography]] to identify any cardiac dysfunction
|
* Clinical diagnosis with supportive test
|
* [[Cardiac index]] decreased
* [[Troponin]] leves, chemestry screen, [[complete blood count]]
* [[Cardiogenic shock]]
* [[Septic shock]]
* [[Hypovolemic shock]]
|}
==Overview==

{| class="wikitable"
!underlying condition
!Onset of respiratory failure
!Physical examination
!Symptoms
!Labs and imaging
!others
|-
|COPD
|
* Acute
* Chronic
* Acute on chronic
|
* Clubbing
* Tachypnea
* Barrel shaped chest
* Decreased breath sounds with prolonged expiration
* Rhonchi and Wheeze
* Use of accessory respiratory muscles
* Increased JVP, peripheral edema may manifest with right ventricular overload during an acute exacerbation.1
|
* Dyspnea
* Cough with/without sputum
* Exercise intolerance
* Acute exacerbations may affect CNS, ranging from irritability to decreased responsiveness.
* CNS symptoms may be the only manifestation in elderly with baseline hypercapnia.2
|
* Chest X-ray: hyperinflation, flattened diaphragm, rapid tapering of vascular markings
* PFTs: (FEV1/FVC) <70% of predicted
* ABGs: Mild to moderate hypoxemia, hypercapnia with progression of disease, pH is around normal, below 7.3 points to respiratory acidosis
|History of smoking, cough and sputum production
|-
|Severe Asthma/Status Asthmaticus
|Acute
|Tachypnea

Tachycardia

Use of accessory respiratory muscles

Unable to speak full sentences Orthopnea
Pulsus paradoxus
|Dyspnea

Wheezing

Cough

Chest tightness
|PEF <40 percent predicted or personal best

Pulse oximetry

Chest X-ray: not required in acute conditions, may show hyperinflation
|Hx of Bronchial asthma

Presence of

Drowsiness3 and silent chest is a useful predictor of impending respiratory failure
|-
|
|
|
|
|
|
|}
: We, therefore, propose the following diagnostic criteria for this subset of NPE: 1)
: ''Acute'' hypercapnic respiratory failure: the patient will have no, or minor, evidence of preexisting respiratory disease, and arterial blood gas tensions will show a high Paco2, low pH, and normal bicarbonate.
:
; ▪
: ''Chronic'' hypercapnic respiratory failure: evidence of chronic respiratory disease, high Paco2, near normal pH, high bicarbonate.
; ▪
: ''Acute-on-chronic'' hypercapnic respiratory failure: an acute deterioration in an individual with significant preexisting hypercapnic respiratory failure, high Paco2, low pH, high bicarbonate.

== '''Glycogen Storage Disease Type IV''' ==
'''Synonyms: GSD IV, Andersen Disease, Brancher deficiency; Amylopectinosis'''; '''Glycogen Branching Enzyme Deficiency, Glycogenosis IV'''

''' '''

'''Overview:'''

''' '''

'''Historical Perspective:'''

- In 1952, B Illingworth and GT Cori observed accumulation of an abnormal glycogen (resembling amylopectin) in the liver of a patient with von Gierke’s Disease. They postulated this finding to a different type of enzymatic deficiency, and thus to a different type of glycogen storage disease.[1]

- In 1956, DH Andersen, an American pathologist and pediatrician, reported the first clinical case of the disease as "familial cirrhosis of the liver with storage of abnormal glycogen".[2]

- In 1966, BI Brown and DH Brown clearly demonstrated the deficiency of glycogen branching enzyme (alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase) in a case of Type IV glycogenosis.[3]

''' '''

'''Classification'''

There is no established system for the classification of GSD Type IV. The deficiency of GBE affecting the liver, the brain, the heart, and skeletal muscles leads to variable clinical presentations. Based on organ/tissue involvement, age of onset and clinical features, Andersen disease can be segregated into various forms [16] as below:<ref name="pmid15669676">{{cite journal |vauthors=Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F |title=Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings |journal=J. Inherit. Metab. Dis. |volume=27 |issue=5 |pages=609–19 |year=2004 |pmid=15669676 |doi= |url=}}</ref>

{| class="wikitable"
|'''Form of Presentation'''
|''' Age of'''

''' Onset'''
|'''Clinical Features'''

''' '''
|-
|''' '''

Classic Hepatic Form

''' '''

''' '''

Neuromuscular form

''' '''

A'''-'''Perinatal

B-Congenital

C-Late childhood form

D-Adult form

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''
|''' '''

0-18 Mo

''' '''

''' '''

''' '''

''' '''

In utero

''' '''

At birth

''' '''

''' '''

''' '''

''' '''

0-18 yrs

>18-21 yrs (any age in adulthood)
|Infants present with failure to thrive, and hepatosplenomegaly. Progresses to portal hypertension, ascites, and liver failure, leading to death by 5 years of age.[17]

''' '''

''' '''

Prenatal symptoms include, polyhydramnios, hydrops fetalis, and decreased fetal movement; at birth severe hypotonia is observed requiring mechanical ventilation for respiratory support. [18][19] Cardiac findings like progressive cardiomyopathy may also be present.[19]

Newborns may have severe hypotonia, hyporeflexia, cardiomyopathy, depressed respiration and neuronal involvement, leading to death in early infancy. [21]

''' '''

''' '''

Presents in childhood at any age with myopathy as exercise intolerance, and cardiopathy as exertional dyspnea; and congestive heart failure in progressed cases. [21].

''' '''

May present as isolated myopathy [23] or as Adult Polyglucosan Body Disease (APBD) [22]
|}

'''Adult polyglucosan body disesase (APBD)'''

''' '''

- Adult polyglucosan body disease is one of the neuromuscular variant of GSD Type IV.

- Typically, the first clinical manifestation is of urinary incontinence (secondary to neurogenic bladder), followed by gait disturbance (due to spastic paraplegia) and lower limb paresthesias (due to axonal neuropathy). [15]

'''Pathophysiology:'''

'''Pathogenesis:'''

- Glycogen storage disease type IV is an autosomal recessive genetic disorder which results due to deficiency of glycogen branching enzyme (GBE).[4]

- During Glycogenesis, the branching enzyme introduces branches to growing glycogen chains by transferring α-1,4-linked glucose monomers from the outer end of a chain into an α-1,6 position of the same or neighboring glycogen chain. [6]

- Deficiency of GBE affects the branching process, yielding a polysaccharide which has fewer branching points and longer outer chains, thus resembling amylopectin. This new amylopectin-like structure is also known as polyglucosan. [7]

- The enzyme deficiency affects all the bodily tissues; but liver, heart, skeletal muscles, and the nervous system are mostly affected.

- The abnormally branched glycogen accumulates as intracytoplasmic non membrane-bound inclusions in hepatocytes, myocytes, and neuromuscular system; where it increases osmotic pressure within cells, causing cellular swelling and death.[8][9]

- The altered structure also renders glycogen to become less soluble, and this is thought to lead into a foreign body reaction causing fibrosis, and finally culminating in liver failure. [10][11]

- In skeletal muscle, accumulation leads to muscle weakness, fatigue, exercise intolerance, and muscular atrophy. [12]

- Regarding the heart, a wide spectrum of cardiomyopathy from dilated to hypertrophic and from asymptomatic to decompensated heart failure may occur. [13]

- Although exact mechanism is not known, glycogen deposition in the myocardium is thought to initiate signaling pathways which cause sarcomeric hypertrophy, resulting in hypertrophic cardiomyopathy.[14]

''' '''

'''Molecular Genetics:'''

 • Glycogen branching enzyme is a 702 amino acid protein encoded by GBE1 gene mapped to chromosome 3p12.2 and is transmitted as an autosomal recessive trait. [21][5] HUGO Gene Nomenclature Committee <nowiki>https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4180</nowiki> The Universal Protein Resource (UniProt) <nowiki>http://www.uniprot.org/uniprot/Q04446</nowiki>

 • Mutations in the GBE1 are responsible for enzymatic deficiency, and so far 40 pathogenic variants have been identified in individuals with GSD IV or adult-onset polyglucosan body disease (APBD).PMID: 23285490

'''CAUSES:'''

The cause of GSD type IV is variable deficiency of glycogen branching enzyme. The deficiency is due to various mutations of GBE1 gene encoding the single polypeptide protein.

'''Differential Diagnosis:'''

Comparisons may be useful for a differential diagnosis as a number of other disease conditions with clinical features may present similar to those associated with GSD Type IV.

Presenting as hepatomegaly in infancy, the following glycogen metabolism disorders should be differentiated from GSD Type IV;

-GSD Type I

-GSD Type III

-GSD Type VI

-Hepatic Phosphorylase b Kinase Deficiency

Metabolic disorders presenting with muscle weakness/myopathy during infancy should also be considered;

Muscle glycogen synthase deficiency (GSD0b)

Lysosomal acid maltase deficiency (GSD II)

Glycogen debrancher deficiency (GSD III)

Muscle phosphorylase deficiency (GSD V)

Aldolase A deficiency (GSD XII)

Glycogenin-1 deficiency (GSD XV)

''' '''

'''EPIDEMIOLOGY:'''

'''FREQUENCY-''' The frequency of all glycogen storage diseases is estimated to be 1 in 20,000 to 25,000 live births, while GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals worldwide. NORD GHR <nowiki>https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv#statistics</nowiki>

'''SEX-''' Males and females appear to be affected in relatively equal numbers [NORD] because the deficiency of glycogen-branching enzyme activity is inherited as an autosomal-recessive trait.

'''RACE-''' Familial aggregation is observed in about 30% of adult polyglucosan body disease cases especially among Ashkenazi Jewish populations. NORD

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

'''References'''

''' '''

1.Structure of glycogens and amylopectins. III. Normal and abnormal human glycogen.

ILLINGWORTH B, CORI GT.

J Biol Chem. 1952 Dec;199(2):653-60

2. Familial cirrhosis of the liver with storage of abnormal glycogen.

''ANDERSEN DH''

''Lab Invest. 1956 Jan-Feb; 5(1):11-20.''

3. Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.

Brown BI, Brown DH.

Proc Natl Acad Sci U S A. 1966 Aug;56(2):725-9.

4. Hum Mol Genet. 2011 Feb 1;20(3):455-65. doi: 10.1093/hmg/ddq492. Epub 2010 Nov 12.

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. Lee YC1, Chang CJ, Bali D, Chen YT, Yan YT.

'''5'''. Acta Myol. 2011 Oct; 30(2): 96–102.

PMCID: PMC3235878 Progress and problems in muscle glycogenoses

S. Di Mauro and R. Spiegel1

'''6'''. Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21.

'''7'''. PubMed: 15019703

Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004;14:253–60.

8. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast.

''Thon VJ, Khalil M, Cannon JF''

''J Biol Chem. 1993 Apr 5; 268(10):7509-13.''

9. Hum Pathol. 2012 Jun;43(6):943-51. doi: 10.1016/j.humpath.2011.10.001. Epub 2012 Feb 2.

10. DOI: 10.1056/NEJM199101033240111

11. '''Severe cardiopathy enzyme deficiency in branching'''

Serenella Servidei, M.D., Roger E. Riepe, M.D., Claire Langston, M.D.,Lloyd Y: Tani, M.D., J. Timothy Bricker, M.D., Naoma Crisp-Lindgren, M.D.,Henry Travers, M.D., Dawna Armstrong, M.D., and

Salvatore DiMauro, M.D.

12. National Organization for Rare Disorders (NORD): rarediseases.org/rare-diseases/andersen-disease-gsd-iv/

13. <nowiki>http://dx.doi.org/10.1155/2012/764286</nowiki>

14. DOI: 10.1056/NEJMra0902923

15. Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Mochel F1, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A.

16. American Journal of Medical Genetics 139A:118–122 (2005)

17. Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J. Clin. Invest. 97: 941-948, 1996.

18. Neonatal presentation of lethal neuromuscular glycogen storage disease type IV L F Escobar, S Wagner, M Tucker & J Wareham ''Journal of Perinatology'' '''32''', 810–813 (2012) doi:10.1038/jp.2011.178

19. Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1 Andreas R.Janecke MD Susanne Dertinger MD Uwe-Peter Ketelsen MD Lothar Bereuter MD Burkhard Simma MD Thomas Müller MD Wolfgang Vogel MD Felix A. Offner MD

<nowiki>https://doi.org/10.1016/j.jpeds.2004.07.024</nowiki>

20. Magoulas PL, El-Hattab AW. Glycogen Storage Disease Type IV. 2013 Jan 3. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: <nowiki>https://www.ncbi.nlm.nih.gov/books/NBK115333/</nowiki>

21. World J Gastroenterol. 2007 May 14; 13(18): 2541–2553.

Published online 2007 May 14. doi: 10.3748/wjg.v13.i18.2541 PMCID: PMC4146814 Glycogen storage diseases: New perspectives Hasan Özen

22. Glycogen branching enzyme deficiency in adult polyglucosan body disease.

Bruno C, Servidei S, Shanske S, Karpati G, Carpenter S, McKee D, Barohn RJ, Hirano M, Rifai Z, DiMauro S

Ann Neurol. 1993;33(1):88.

23. Adult polyglucosan body myopathy.

Goebel HH, Shin YS, Gullotta F, Yokota T, Alroy J, Voit T, Haller P, Schulz A

J Neuropathol Exp Neurol. 1992 Jan; 51(1):24-35.

24. Ann Neurol. Author manuscript; available in PMC 2015 Feb 16.

Ann Neurol. 2012 Sep; 72(3): 433–441. doi: 10.1002/ana.23598 PMCID: PMC4329926 NIHMSID: NIHMS415710

Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings

Fanny Mochel, MD, PhD,1,2,3,4 Raphael Schiffmann, MD,5 Marjan E. Steenweg, MD,6 Hasan O. Akman, PhD,7 Mary Wallace, RD,5 Frédéric Sedel, MD, PhD,1,3,8 Pascal Laforêt, MD,3,9 Richard Levy, MD, PhD,4,10,11 J. Michael Powers, MD,12 Sophie Demeret, MD,8 Thierry Maisonobe, MD,13 Roseline Froissart, PhD,14 Bruno Barcelos Da Nobrega, MD,15 Brent L. Fogel, MD, PhD,16 Marvin R. Natowicz, MD, PhD,17 Catherine Lubetzki, MD, PhD,1,4,8 Alexandra Durr, MD, PhD,12 Alexis Brice, MD,1,2,4,8 Hanna Rosenmann, PhD,18 Varda Barash, PhD,19 Or Kakhlon, PhD,18 J. Moshe Gomori, MD,20 Marjo S. van der Knaap, MD, PhD,6 and Alexander Lossos, MD18

25. <nowiki>PMID 8274116</nowiki>

= Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. =
Lee YC1, Chang CJ, Bali D, Chen YT, Yan YT.

'''5'''. Acta Myol. 2011 Oct; 30(2): 96–102.

PMCID: PMC3235878 Progress and problems in muscle glycogenoses

S. DiMauro and R. Spiegel1

'''6'''. Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21.

'''7'''. Neuromusc. Disord. 14: 253-260, 2004. [PubMed: 15019703

==References==
{{Reflist|2}}

Sandbox:Vellayat

2018-03-09T03:21:20Z

Vellayat Ali:

__NOTOC__

{{CMG}}; {{AE}} {{VA}}

{| class="wikitable"
|-
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Type of respiratory failure
! colspan="2" rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Causes/Etiology
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Onset
! colspan="5" style="background:#4479BA; color: #FFFFFF;" align="center" + |Clinical manifestations
! colspan="2" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Investigations
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Gold standard
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Other features
|-
! colspan="4" |Symptoms
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Physical exam
|-
!Dyspnea
!Cough
!Fever
!Others findings
!Imaging
!Labs
|-
| rowspan="7" |'''Hypoxic respiratory failure (Type 1 respiratory failure)'''
|[[Cardiogenic pulmonary edema|'''Cardiogenic pulmonary edema''']]
|[[Acute decompensated heart failure|'''Acute decompensated heart failure''']]'''<ref name="pmid20937981">{{cite journal |vauthors=Weintraub NL, Collins SP, Pang PS, Levy PD, Anderson AS, Arslanian-Engoren C, Gibler WB, McCord JK, Parshall MB, Francis GS, Gheorghiade M |title=Acute heart failure syndromes: emergency department presentation, treatment, and disposition: current approaches and future aims: a scientific statement from the American Heart Association |journal=Circulation |volume=122 |issue=19 |pages=1975–96 |year=2010 |pmid=20937981 |doi=10.1161/CIR.0b013e3181f9a223 |url=}}</ref><ref name="pmid15477431">{{cite journal |vauthors=Doust JA, Glasziou PP, Pietrzak E, Dobson AJ |title=A systematic review of the diagnostic accuracy of natriuretic peptides for heart failure |journal=Arch. Intern. Med. |volume=164 |issue=18 |pages=1978–84 |year=2004 |pmid=15477431 |doi=10.1001/archinte.164.18.1978 |url=}}</ref>''' <ref name="pmid28461259">{{cite journal |vauthors=Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE, Colvin MM, Drazner MH, Filippatos GS, Fonarow GC, Givertz MM, Hollenberg SM, Lindenfeld J, Masoudi FA, McBride PE, Peterson PN, Stevenson LW, Westlake C |title=2017 ACC/AHA/HFSA Focused Update of the 2013 ACCF/AHA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Failure Society of America |journal=J. Card. Fail. |volume=23 |issue=8 |pages=628–651 |date=August 2017 |pmid=28461259 |doi=10.1016/j.cardfail.2017.04.014 |url=}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>+</nowiki> with frothy expectoration
| +/-
|
* nausea and anorexia

* confusion
* headaches
|
* [[Wheezing]]
* Increased [[pulse rate]]
* [[Crackles]]
* Pedal edema
* Elevated [[Jugular venous pressure|JVP]]
* [[Obtundation]]
* Enlarged liver
|
* [[Cardiomegaly]] and [[interstitial edema]] in [[Chest X-ray|chest radiograph]]
* Echocardiography
|
* Pulse oximetry
* Assays for BNP (B-type natriuretic peptide) and NT-proBNP (N-terminal pro-B-type natriuretic peptide)
* Cardiac troponin levels
* [[ST]] and [[T wave|T waves]] abnormalities in [[ECG]]
|
* Clinical diagnosis
|
* History of heart disease, hypertension
|-
| rowspan="4" |'''Non cardiogenic [[pulmonary edema]]'''
|'''[[Acute respiratory distress syndrome|Adult respiratory distress syndrome]] ([[ARDS]]) <ref name="pmid22797452">{{cite journal |vauthors=Ranieri VM, Rubenfeld GD, Thompson BT, Ferguson ND, Caldwell E, Fan E, Camporota L, Slutsky AS |title=Acute respiratory distress syndrome: the Berlin Definition |journal=JAMA |volume=307 |issue=23 |pages=2526–33 |year=2012 |pmid=22797452 |doi=10.1001/jama.2012.5669 |url=}}</ref>'''
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>+/-</nowiki>
|<nowiki>+/-</nowiki>
|
* [[Cyanosis]]
|
* [[Tachypnea]]
* [[Tachycardia]]
* Diffuse [[crackles]]
|
* Diffuse, bilateral, alveolar infiltrates without [[cardiomegaly]] in chest radiograph
* Bilateral opacities in [[Computed tomography|CT]]
|
* [[Hypoxemia]] with acute [[respiratory alkalosis]] in [[Arterial blood gas|arterial blood gases]]
|
* Clinical diagnosis with supportive test
|
According to Berlin definition:
* One week of new or worse respiratory symptoms or clinical insult
* Symptoms can not be explained by [[Heart|cardiac]] disease
* Bilateral opacities in [[Chest X-ray|chest X-Ray]] or [[Computed tomography|CT]]
* Compromised [[oxygenation]]
|-
|'''High-Altitude Pulmonary edema ([[HAPE]])''' <ref name="Ma2013">{{cite journal|last1=Ma|first1=Qing|title=Acute respiratory distress syndrome secondary to High-altitude pulmonary edema: A diagnostic study|journal=Journal of Medical Laboratory and Diagnosis|volume=4|issue=1|year=2013|pages=1–7|issn=2141-2618|doi=10.5897/JMLD12.007}}</ref>
|
* Acute
|<nowiki>+</nowiki>
| + with frothy expectoration
| +
|
* [[Chest tightness]]
* Decreased exercise performance
|
* [[Wheeze|Wheezing]]
|
* Chest X-ray may show patchy [[alveolar]] infiltrates, predominantly in the right central hemithorax, which become more confluent and bilateral as the illness progresses
|
* High levels of [[white blood cell count]]
* Decreased of [[oxygen saturation]]
|
* Clinical diagnosis with supportive test
|
* Occurrs over 2500 m
* Descent is mandatory in >4000 m
|-
|'''Neurogenic pulmonary edema <ref name="pmid22429697">{{cite journal |vauthors=Davison DL, Terek M, Chawla LS |title=Neurogenic pulmonary edema |journal=Crit Care |volume=16 |issue=2 |pages=212 |year=2012 |pmid=22429697 |pmc=3681357 |doi=10.1186/cc11226 |url=}}</ref>'''
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>+/- with frothy expectoration</nowiki>
|<nowiki>+/-</nowiki>
|
* [[Hemoptysis]]
|
* [[Rales]]
* Bilateral [[crackles]]
|
* Bilateral hyperdense infiltration in [[Chest X-ray|chest X-Ray]]
|
* [[Leukocytosis]]
* Bilateral hyperdense infiltration in [[Chest X-ray|chest X-Ray]]
|
* No [[Left atrium|left atrial]] [[Hypertension, systemic|hypertension]]
* [[CNS]] injury
* No evidence of other causes of [[Acute respiratory distress syndrome|ARDS]]
|
* Major causes of NPE are [[Epileptic seizure|epileptic]] [[Seizure|seizures]], [[Brain|cerebral]] [[Bleeding|hemorrhages]] and [[Brain damage|brain injury]]
|-
|[[Pulmonary embolism|'''Pulmonary embolism''']] <ref name="pmid8549223">{{cite journal |vauthors=Stein PD, Goldhaber SZ, Henry JW, Miller AC |title=Arterial blood gas analysis in the assessment of suspected acute pulmonary embolism |journal=Chest |volume=109 |issue=1 |pages=78–81 |year=1996 |pmid=8549223 |doi= |url=}}</ref> <ref name="pmid17848685">{{cite journal |vauthors=Remy-Jardin M, Pistolesi M, Goodman LR, Gefter WB, Gottschalk A, Mayo JR, Sostman HD |title=Management of suspected acute pulmonary embolism in the era of CT angiography: a statement from the Fleischner Society |journal=Radiology |volume=245 |issue=2 |pages=315–29 |year=2007 |pmid=17848685 |doi=10.1148/radiol.2452070397 |url=}}</ref>
|
* Acute
* Sub-acute
* Chronic
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|<nowiki>+/-</nowiki>
|
* [[Chest pain]]
* [[Orthopnea]]
|
* [[Wheeze|Wheezing]]
* [[Tachypnea]]
* [[Edema]]
* Decreased [[Breathing|breath]] sounds
* [[Tachycardia]]
|
* Hamptom and Westermark sign may be seen in [[Chest X-ray|chest X-Ra]]<nowiki/>y
|
* [[Leukocytosis]], elevated [[Erythrocyte sedimentation rate|erythrocyte sedimentation]] and [[lactic acid]] in [[complete blood count]]
* [[Hypoxemia]] in [[arterial blood gas]]
* [[D-dimer]] to rule out other diseases
* [[Tachycardia]] and abnormalities in [[ST-segment]] and [[T wave|T waves]] are observed in [[The electrocardiogram|ECG]]
* VQ scan
|
* Computed tomography pulmonary angiogram [[CT pulmonary angiogram|(CTPA)]] or catheter based [[pulmonary angiography]]
|
* [[Venous thromboembolism]] ([[VTE]])
|-
| colspan="2" |'''[[Pneumonia]]<ref name="pmid16912951">{{cite journal |vauthors=Bauer TT, Ewig S, Rodloff AC, Müller EE |title=Acute respiratory distress syndrome and pneumonia: a comprehensive review of clinical data |journal=Clin. Infect. Dis. |volume=43 |issue=6 |pages=748–56 |year=2006 |pmid=16912951 |doi=10.1086/506430 |url=}}</ref>''' <ref name="pmid172780832">{{cite journal |vauthors=Mandell LA, Wunderink RG, Anzueto A, Bartlett JG, Campbell GD, Dean NC, Dowell SF, File TM, Musher DM, Niederman MS, Torres A, Whitney CG |title=Infectious Diseases Society of America/American Thoracic Society consensus guidelines on the management of community-acquired pneumonia in adults |journal=Clin. Infect. Dis. |volume=44 Suppl 2 |issue= |pages=S27–72 |year=2007 |pmid=17278083 |doi=10.1086/511159 |url=}}</ref>
|
* Acute
| +
| + with sputum production
|<nowiki>+</nowiki>
|
* Pleuritic chest pain
|
* [[Egophony]]
* [[Crackles]]
* [[Tactile fremitus]]
* Bronchial breath sounds
|
* Infiltration in [[Chest X-ray|chest X-Ray]]
|
* [[Leukocytosis]]
* [[Sputum cultures|Sputum culture]] & sensitivity
|
* Clinical manifestations and infiltration [[Chest X-ray|chest X-Ray]] with or without microbiological test
|
* [[Community-acquired pneumonia]]
* [[Hospital-acquired pneumonia]]
* [[Healthcare-associated pneumonia]]
* [[Ventilator-associated pneumonia]]
* [[Aspiration pneumonia]]
|-
| colspan="2" |'''Idiopatic chronic lung fibrosis<ref name="pmid18757459">{{cite journal |vauthors=Bradley B, Branley HM, Egan JJ, Greaves MS, Hansell DM, Harrison NK, Hirani N, Hubbard R, Lake F, Millar AB, Wallace WA, Wells AU, Whyte MK, Wilsher ML |title=Interstitial lung disease guideline: the British Thoracic Society in collaboration with the Thoracic Society of Australia and New Zealand and the Irish Thoracic Society |journal=Thorax |volume=63 Suppl 5 |issue= |pages=v1–58 |year=2008 |pmid=18757459 |doi=10.1136/thx.2008.101691 |url=}}</ref>''' <ref name="pmid19304475">{{cite journal |vauthors=Mittoo S, Gelber AC, Christopher-Stine L, Horton MR, Lechtzin N, Danoff SK |title=Ascertainment of collagen vascular disease in patients presenting with interstitial lung disease |journal=Respir Med |volume=103 |issue=8 |pages=1152–8 |date=August 2009 |pmid=19304475 |doi=10.1016/j.rmed.2009.02.009 |url=}}</ref> <ref name="pmid21471066">{{cite journal |vauthors=Raghu G, Collard HR, Egan JJ, Martinez FJ, Behr J, Brown KK, Colby TV, Cordier JF, Flaherty KR, Lasky JA, Lynch DA, Ryu JH, Swigris JJ, Wells AU, Ancochea J, Bouros D, Carvalho C, Costabel U, Ebina M, Hansell DM, Johkoh T, Kim DS, King TE, Kondoh Y, Myers J, Müller NL, Nicholson AG, Richeldi L, Selman M, Dudden RF, Griss BS, Protzko SL, Schünemann HJ |title=An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management |journal=Am. J. Respir. Crit. Care Med. |volume=183 |issue=6 |pages=788–824 |date=March 2011 |pmid=21471066 |pmc=5450933 |doi=10.1164/rccm.2009-040GL |url=}}</ref> <ref name="ShawCollins2015">{{cite journal|last1=Shaw|first1=Megan|last2=Collins|first2=Bridget F.|last3=Ho|first3=Lawrence A.|last4=Raghu|first4=Ganesh|title=Rheumatoid arthritis-associated lung disease|journal=European Respiratory Review|volume=24|issue=135|year=2015|pages=1–16|issn=0905-9180|doi=10.1183/09059180.00008014}}</ref>
|
* Chronic
|<nowiki>+</nowiki>
| + '''without''' any sputum production
| +/-
|
* symptoms suggestive of [[Rheumatic disease|rheumatic]] diseases may be present
|
* [[Clubbing]] of the digits
* Bibasilar [[Crackles]]
|
* [[Reticular|Reticula]]<nowiki/>r or nodular pattern in chest X-Ray
* [[High Resolution CT|HRCT]] may show reticular opacities, including honeycomb changes and traction [[bronchiectasis]]
|
* Serological tests e.g. [[Antinuclear antibodies|ANA]], [[RF]] for underlying rheumatological diseases

* Reduced [[FEV1/FVC ratio|FEV1]] and [[Vital capacity|FVC]] on spirometry
|
* Clinical presentation in combinations with HRCT findings
* Lung [[biopsy]] when lab, imaging and PFT do not yield enough evidence
|
* History of cigarette smoking
|-
| rowspan="5" |'''Hypercapnic respiratory failure (Type 2 respiratory failure)'''
| colspan="2" |[[Chronic obstructive pulmonary disease|COPD]] <ref name="pmid18453367">{{cite journal |vauthors=MacIntyre N, Huang YC |title=Acute exacerbations and respiratory failure in chronic obstructive pulmonary disease |journal=Proc Am Thorac Soc |volume=5 |issue=4 |pages=530–5 |date=May 2008 |pmid=18453367 |pmc=2645331 |doi=10.1513/pats.200707-088ET |url=}}</ref> <ref name="Calverley2003">{{cite journal|last1=Calverley|first1=P.M.A.|title=Respiratory failure in chronic obstructive pulmonary disease|journal=European Respiratory Journal|volume=22|issue=Supplement 47|year=2003|pages=26s–30s|issn=0903-1936|doi=10.1183/09031936.03.00030103}}</ref>
|
* Acute

* Chronic

* Acute-on-chronic
|<nowiki>+</nowiki>
| +
|<nowiki>+/-</nowiki>
|
* Exercise intolerance

* Acute exacerbation may affect [[CNS]], ranging from irritability to decreased responsiveness
|
* [[Clubbing]]
* [[Tachypnea]]
* Barrel shaped chest
* Decreased breath sounds with prolonged expiration
* [[Rhonchi]] and [[Wheeze]]
* Use of accessory respiratory muscles
* Increased [[Jugular venous pressure|JVP]], peripheral [[edema]] may manifest with right [[Ventricular|ventricula]]<nowiki/>r overload during an acute exacerbation
|
* Chest X-ray may show hyperinflation, flattened [[diaphragm]], rapid tapering of vascular markings
* CT scan helps to correlate with COPD prognosis
|
* PFTs: (FEV1/FVC) <70% of predicted

* ABGs: Mild to moderate [[hypoxemia]], hypercapnia with progression of disease, pH is around normal, < 7.3 points to [[respiratory acidosis]]
|
* Clinical diagnosis with supportive test
|
* CNS symptoms may be the only manifestation in elderly with baseline [[hypercapnia]]
|-
| colspan="2" |[[Status asthmaticus|Severe Asthma/Status Asthmaticus]] <ref name="urlGuidelines for the Diagnosis and Management of Asthma (EPR-3) | National Heart, Lung, and Blood Institute (NHLBI)">{{cite web |url=https://www.nhlbi.nih.gov/health-topics/guidelines-for-diagnosis-management-of-asthma |title=Guidelines for the Diagnosis and Management of Asthma (EPR-3) | National Heart, Lung, and Blood Institute (NHLBI) |format= |work= |accessdate=}}</ref> <ref name="ThomsonChaudhuri2013">{{cite journal|last1=Thomson|first1=Neil C.|last2=Chaudhuri|first2=Rekha|last3=Messow|first3=C. Martina|last4=Spears|first4=Mark|last5=MacNee|first5=William|last6=Connell|first6=Martin|last7=Murchison|first7=John T.|last8=Sproule|first8=Michael|last9=McSharry|first9=Charles|title=Chronic cough and sputum production are associated with worse clinical outcomes in stable asthma|journal=Respiratory Medicine|volume=107|issue=10|year=2013|pages=1501–1508|issn=09546111|doi=10.1016/j.rmed.2013.07.017}}</ref>
|
* Acute
|<nowiki>+</nowiki>
| +
|<nowiki>-</nowiki>
|
* Chest tightness
* Audible wheeze
|
* [[Tachypnea]]
* [[Tachycardia]]
* Wheezing
* Use of accessory respiratory muscles
* Unable to speak full sentences
* [[Orthopnea]]
* [[Pulsus paradoxus]]
|
* Chest X-ray not required in acute conditions, may show hyperinflation
|
* PEF <40 percent predicted or personal best

* [[Pulse oximetry]]
* [[Arterial blood gas|ABGs]]
|
* Clinical diagnosis
|
* History of [[bronchial asthma]]
|-
| colspan="2" |Drug Overdose (opioid toxicity) <ref name="pmid7629986">{{cite journal |vauthors=Hoffman RS, Goldfrank LR |title=The poisoned patient with altered consciousness. Controversies in the use of a 'coma cocktail' |journal=JAMA |volume=274 |issue=7 |pages=562–9 |date=August 1995 |pmid=7629986 |doi= |url=}}</ref> <ref name="WilsonSaukkonen2016">{{cite journal|last1=Wilson|first1=Kevin C.|last2=Saukkonen|first2=Jussi J.|title=Acute Respiratory Failure from Abused Substances|journal=Journal of Intensive Care Medicine|volume=19|issue=4|year=2016|pages=183–193|issn=0885-0666|doi=10.1177/0885066604263918}}</ref> <ref name="Boyer2012">{{cite journal|last1=Boyer|first1=Edward W.|title=Management of Opioid Analgesic Overdose|journal=New England Journal of Medicine|volume=367|issue=2|year=2012|pages=146–155|issn=0028-4793|doi=10.1056/NEJMra1202561}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|
* Nausea and vomiting

* Constipation

* Seizures
|
* Classic triad suggesting opioid toxicity consist of respiratory depression, pinpoint pupils, and altered mental state
* [[Conjunctiva|Conjunctival]] injection,
* Decreased [[bowel]] sounds
* [[Euphoria]]
|
* Chest X-ray usually not required, may show signs of [[acute lung injury]]
|
* Urine toxicology screen: may reveal polysubstance abuse
|
* Clinical diagnosis with supportive test
|
* Toxicity from [[antipsychotics]], [[anticonvulsants]], [[ethanol]], and [[sedatives]] can result in [[miosis]] and altered mentation, but respiratory depression is usually absent
|-
| colspan="2" |[[Myasthenic crisis]] <ref name="pmid2382251">{{cite journal |vauthors=Mier A, Laroche C, Green M |title=Unsuspected myasthenia gravis presenting as respiratory failure |journal=Thorax |volume=45 |issue=5 |pages=422–3 |date=May 1990 |pmid=2382251 |pmc=462503 |doi= |url=}}</ref> <ref name="pmid20195411">{{cite journal |vauthors=Kim WH, Kim JH, Kim EK, Yun SP, Kim KK, Kim WC, Jeong HC |title=Myasthenia gravis presenting as isolated respiratory failure: a case report |journal=Korean J. Intern. Med. |volume=25 |issue=1 |pages=101–4 |date=March 2010 |pmid=20195411 |pmc=2829406 |doi=10.3904/kjim.2010.25.1.101 |url=}}</ref> <ref name="pmid9153452">{{cite journal |vauthors=Thomas CE, Mayer SA, Gungor Y, Swarup R, Webster EA, Chang I, Brannagan TH, Fink ME, Rowland LP |title=Myasthenic crisis: clinical features, mortality, complications, and risk factors for prolonged intubation |journal=Neurology |volume=48 |issue=5 |pages=1253–60 |date=May 1997 |pmid=9153452 |doi= |url=}}</ref> <ref name="pmid12870111">{{cite journal |vauthors=Rabinstein AA, Wijdicks EF |title=Warning signs of imminent respiratory failure in neurological patients |journal=Semin Neurol |volume=23 |issue=1 |pages=97–104 |date=March 2003 |pmid=12870111 |doi=10.1055/s-2003-40757 |url=}}</ref> <ref name="pmid23983833">{{cite journal |vauthors=Wendell LC, Levine JM |title=Myasthenic crisis |journal=Neurohospitalist |volume=1 |issue=1 |pages=16–22 |date=January 2011 |pmid=23983833 |pmc=3726100 |doi=10.1177/1941875210382918 |url=}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>+/-</nowiki>
|<nowiki>+/-</nowiki>
|
* Inability to cough
* [[Bulbar dysfunction|Bulbar weakness]]: [[dysphagia]], nasal regurgitation, a nasal quality to speech, staccato speech, jaw weakness, bi-facial [[paresis]], and tongue weakness
|
* Expressionless face with droopy eyelids and mouth
* Use of accessory muscles of respiration i.e. [[external intercostal muscles]], [[Sternocleidomastoid muscle|sternocleidomastoid]], [[scalene muscles]]
* Rapid and shallow breathing
|
* Chest X-ray findings depicting bacterial [[pneumonia]] and/or [[aspiration]] may be observed
|
* [[Pulse oximetry|Pulse Oximetry]]
* [[Arterial blood gas|ABGs]]
* [[Complete blood count|CBC]]: Infective cause precipitating the crisis may be observed
* Tensilon (edorphonium) test
|
* Clinical diagnosis with supportive test
|
* Known case of [[Myasthenia gravis|Myasthenia Gravis]]
* In some cases, [[respiratory failure]] may be the presenting symptom
|-
| colspan="2" |[[Guillain-Barré syndrome]] <ref name="pmid9443451">{{cite journal |vauthors=Wijdicks EF, Borel CO |title=Respiratory management in acute neurologic illness |journal=Neurology |volume=50 |issue=1 |pages=11–20 |date=January 1998 |pmid=9443451 |doi= |url=}}</ref> <ref name="pmid16934165">{{cite journal |vauthors=Mehta S |title=Neuromuscular disease causing acute respiratory failure |journal=Respir Care |volume=51 |issue=9 |pages=1016–21; discussion 1021–3 |date=September 2006 |pmid=16934165 |doi= |url=}}</ref> <ref name="pmid11405806">{{cite journal |vauthors=Gordon PH, Wilbourn AJ |title=Early electrodiagnostic findings in Guillain-Barré syndrome |journal=Arch. Neurol. |volume=58 |issue=6 |pages=913–7 |date=June 2001 |pmid=11405806 |doi= |url=}}</ref> <ref name="pmid677829">{{cite journal |vauthors= |title=Criteria for diagnosis of Guillain-Barré syndrome |journal=Ann. Neurol. |volume=3 |issue=6 |pages=565–6 |date=June 1978 |pmid=677829 |doi=10.1002/ana.410030628 |url=}}</ref> <ref name="ByunPark1998">{{cite journal|last1=Byun|first1=W M|last2=Park|first2=W K|last3=Park|first3=B H|last4=Ahn|first4=S H|last5=Hwang|first5=M S|last6=Chang|first6=J C|title=Guillain-Barré syndrome: MR imaging findings of the spine in eight patients.|journal=Radiology|volume=208|issue=1|year=1998|pages=137–141|issn=0033-8419|doi=10.1148/radiology.208.1.9646804}}</ref> <ref name="IwataUtsumi1997">{{cite journal|last1=Iwata|first1=F.|last2=Utsumi|first2=Y.|title=MR imaging in Guillain-Barré syndrome|journal=Pediatric Radiology|volume=27|issue=1|year=1997|pages=36–38|issn=0301-0449|doi=10.1007/s002470050059}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|<nowiki>+/-</nowiki>
|
* Difficulty walking (ascending symmetric muscular weakness)

* [[Paresthesias]] in hands and feet

* Back pain
* Pain in extremities
|
* [[Dysautonomia]] (tachycardia/bradycardia, hypertension/hypotension, [[urinary retention]])

* Diminished or absent deep tendon reflexes

* Limb weakness (first lower then upper limbs)
* [[Facial droop]] (Facial nerve palsy)
* [[Ophthalmoparesis]] (3rd & 6th nerve palsies)
* Decreased breath sounds
* Decreased bowel sounds
|
* MRI Spine: thickening of [[intrathecal]] [[Spinal cord|spinal]] [[Nerve root|nerve roots]] and [[cauda equina]]
|
* CSF analysis: Albuminocytologic dissociation
* Nerve conduction studies may show conduction block, slowed motor conduction velocities and delayed latencies
* [[PFTs]]: [[Vital Capacity]], maximum inspiratory pressure (PImax) and maximum expiratory pressure (PEmax) should be followed to determine appropriate timing of intubation and [[mechanical ventilation]]
|
* Clinical diagnosis with supportive test
|
* Signs depicting [[respiratory failure]] occur late, early manifestations are [[tachypnea]], tachycardia, air hunger, broken sentences, and a need to pause between sentences
* Use of the accessory respiratory muscles, paradoxical breathing, and [[orthopnea]] indicate severe [[Diaphragm|diaphragmatic]] weakness
|-
|'''Perioperative respiratory failure (Type 3 respiratory failure)'''
| colspan="2" |'''Post-operative [[atelectasis]] <ref name="pmid8820021">{{cite journal |vauthors=Woodring JH, Reed JC |title=Types and mechanisms of pulmonary atelectasis |journal=J Thorac Imaging |volume=11 |issue=2 |pages=92–108 |year=1996 |pmid=8820021 |doi= |url=}}</ref>''' <ref name="urlAtelectasis | National Heart, Lung, and Blood Institute (NHLBI)">{{cite web |url=https://www.nhlbi.nih.gov/health-topics/atelectasis |title=Atelectasis | National Heart, Lung, and Blood Institute (NHLBI) |format= |work= |accessdate=}}</ref> <ref name="RayBodenham2014">{{cite journal|last1=Ray|first1=Komal|last2=Bodenham|first2=Andrew|last3=Paramasivam|first3=Elankumaran|title=Pulmonary atelectasis in anaesthesia and critical care|journal=Continuing Education in Anaesthesia Critical Care & Pain|volume=14|issue=5|year=2014|pages=236–245|issn=17431816|doi=10.1093/bjaceaccp/mkt064}}</ref> <ref name="SachdevNapolitano2012">{{cite journal|last1=Sachdev|first1=Gaurav|last2=Napolitano|first2=Lena M.|title=Postoperative Pulmonary Complications: Pneumonia and Acute Respiratory Failure|journal=Surgical Clinics of North America|volume=92|issue=2|year=2012|pages=321–344|issn=00396109|doi=10.1016/j.suc.2012.01.013}}</ref> <ref name="pmid9742334">{{cite journal |vauthors=Massard G, Wihlm JM |title=Postoperative atelectasis |journal=Chest Surg. Clin. N. Am. |volume=8 |issue=3 |pages=503–28, viii |date=August 1998 |pmid=9742334 |doi= |url=}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>+/-</nowiki>
|<nowiki>+/-</nowiki>
|
* Asyptomatic or increase work of [[breathing]]
|
* [[Tachypnea]]
* [[Tachycardia]]
* Decreased movement in the affected lung area
* Dullness percussion note
* Absent breath sounds Tracheal deviation to affected side
|
* Chest X-ray may show increased density and reduced volume

* CT chest accurately shows the involved segment
|
* Pulse oximetry
* ABGs
|
* Clinical diagnosis with support of radiographic findings
|
*History of abdominal or thoracic surgery
|-
|'''Type 4 respiratory failure'''
| colspan="2" |'''[[Shock]]<ref name="pmid24171518">{{cite journal |vauthors=Vincent JL, De Backer D |title=Circulatory shock |journal=N. Engl. J. Med. |volume=369 |issue=18 |pages=1726–34 |year=2013 |pmid=24171518 |doi=10.1056/NEJMra1208943 |url=}}</ref>''' <ref name="pmid10985707">{{cite journal |vauthors=Menon V, White H, LeJemtel T, Webb JG, Sleeper LA, Hochman JS |title=The clinical profile of patients with suspected cardiogenic shock due to predominant left ventricular failure: a report from the SHOCK Trial Registry. SHould we emergently revascularize Occluded Coronaries in cardiogenic shocK? |journal=J. Am. Coll. Cardiol. |volume=36 |issue=3 Suppl A |pages=1071–6 |year=2000 |pmid=10985707 |doi= |url=}}</ref>
|
* Acute
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|<nowiki>+/-</nowiki>
|
* [[Oliguria]]
* Abnormal [[mental status]]
* [[Cool extremities|Clammy skin]]
* Cool extremities
|
* [[Hypotension]]
* [[Tachycardia]]
* [[Tachypnea]]
* [[Rales]]
* Gallop rythm
|
* Visible [[congestion]] in [[Chest X-ray|chest X-Ray]]
|
* [[EKG|Electrocardigogram]]
* Increased levels of [[lactic acid]]
* Low levels of [[Bicarbonate]]
* [[Echocardiography]] to identify any cardiac dysfunction
|
* Clinical diagnosis with supportive test
|
* [[Cardiac index]] decreased
* [[Troponin]] leves, chemestry screen, [[complete blood count]]
* [[Cardiogenic shock]]
* [[Septic shock]]
* [[Hypovolemic shock]]
|}
==Overview==

{| class="wikitable"
!underlying condition
!Onset of respiratory failure
!Physical examination
!Symptoms
!Labs and imaging
!others
|-
|COPD
|
* Acute
* Chronic
* Acute on chronic
|
* Clubbing
* Tachypnea
* Barrel shaped chest
* Decreased breath sounds with prolonged expiration
* Rhonchi and Wheeze
* Use of accessory respiratory muscles
* Increased JVP, peripheral edema may manifest with right ventricular overload during an acute exacerbation.1
|
* Dyspnea
* Cough with/without sputum
* Exercise intolerance
* Acute exacerbations may affect CNS, ranging from irritability to decreased responsiveness.
* CNS symptoms may be the only manifestation in elderly with baseline hypercapnia.2
|
* Chest X-ray: hyperinflation, flattened diaphragm, rapid tapering of vascular markings
* PFTs: (FEV1/FVC) <70% of predicted
* ABGs: Mild to moderate hypoxemia, hypercapnia with progression of disease, pH is around normal, below 7.3 points to respiratory acidosis
|History of smoking, cough and sputum production
|-
|Severe Asthma/Status Asthmaticus
|Acute
|Tachypnea

Tachycardia

Use of accessory respiratory muscles

Unable to speak full sentences Orthopnea
Pulsus paradoxus
|Dyspnea

Wheezing

Cough

Chest tightness
|PEF <40 percent predicted or personal best

Pulse oximetry

Chest X-ray: not required in acute conditions, may show hyperinflation
|Hx of Bronchial asthma

Presence of

Drowsiness3 and silent chest is a useful predictor of impending respiratory failure
|-
|
|
|
|
|
|
|}
: ''Acute'' hypercapnic respiratory failure: the patient will have no, or minor, evidence of preexisting respiratory disease, and arterial blood gas tensions will show a high Paco2, low pH, and normal bicarbonate.
; ▪
: ''Chronic'' hypercapnic respiratory failure: evidence of chronic respiratory disease, high Paco2, near normal pH, high bicarbonate.
; ▪
: ''Acute-on-chronic'' hypercapnic respiratory failure: an acute deterioration in an individual with significant preexisting hypercapnic respiratory failure, high Paco2, low pH, high bicarbonate.

== '''Glycogen Storage Disease Type IV''' ==
'''Synonyms: GSD IV, Andersen Disease, Brancher deficiency; Amylopectinosis'''; '''Glycogen Branching Enzyme Deficiency, Glycogenosis IV'''

''' '''

'''Overview:'''

''' '''

'''Historical Perspective:'''

- In 1952, B Illingworth and GT Cori observed accumulation of an abnormal glycogen (resembling amylopectin) in the liver of a patient with von Gierke’s Disease. They postulated this finding to a different type of enzymatic deficiency, and thus to a different type of glycogen storage disease.[1]

- In 1956, DH Andersen, an American pathologist and pediatrician, reported the first clinical case of the disease as "familial cirrhosis of the liver with storage of abnormal glycogen".[2]

- In 1966, BI Brown and DH Brown clearly demonstrated the deficiency of glycogen branching enzyme (alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase) in a case of Type IV glycogenosis.[3]

''' '''

'''Classification'''

There is no established system for the classification of GSD Type IV. The deficiency of GBE affecting the liver, the brain, the heart, and skeletal muscles leads to variable clinical presentations. Based on organ/tissue involvement, age of onset and clinical features, Andersen disease can be segregated into various forms [16] as below:<ref name="pmid15669676">{{cite journal |vauthors=Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F |title=Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings |journal=J. Inherit. Metab. Dis. |volume=27 |issue=5 |pages=609–19 |year=2004 |pmid=15669676 |doi= |url=}}</ref>

{| class="wikitable"
|'''Form of Presentation'''
|''' Age of'''

''' Onset'''
|'''Clinical Features'''

''' '''
|-
|''' '''

Classic Hepatic Form

''' '''

''' '''

Neuromuscular form

''' '''

A'''-'''Perinatal

B-Congenital

C-Late childhood form

D-Adult form

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''

''' '''
|''' '''

0-18 Mo

''' '''

''' '''

''' '''

''' '''

In utero

''' '''

At birth

''' '''

''' '''

''' '''

''' '''

0-18 yrs

>18-21 yrs (any age in adulthood)
|Infants present with failure to thrive, and hepatosplenomegaly. Progresses to portal hypertension, ascites, and liver failure, leading to death by 5 years of age.[17]

''' '''

''' '''

Prenatal symptoms include, polyhydramnios, hydrops fetalis, and decreased fetal movement; at birth severe hypotonia is observed requiring mechanical ventilation for respiratory support. [18][19] Cardiac findings like progressive cardiomyopathy may also be present.[19]

Newborns may have severe hypotonia, hyporeflexia, cardiomyopathy, depressed respiration and neuronal involvement, leading to death in early infancy. [21]

''' '''

''' '''

Presents in childhood at any age with myopathy as exercise intolerance, and cardiopathy as exertional dyspnea; and congestive heart failure in progressed cases. [21].

''' '''

May present as isolated myopathy [23] or as Adult Polyglucosan Body Disease (APBD) [22]
|}

'''Adult polyglucosan body disesase (APBD)'''

''' '''

- Adult polyglucosan body disease is one of the neuromuscular variant of GSD Type IV.

- Typically, the first clinical manifestation is of urinary incontinence (secondary to neurogenic bladder), followed by gait disturbance (due to spastic paraplegia) and lower limb paresthesias (due to axonal neuropathy). [15]

'''Pathophysiology:'''

'''Pathogenesis:'''

- Glycogen storage disease type IV is an autosomal recessive genetic disorder which results due to deficiency of glycogen branching enzyme (GBE).[4]

- During Glycogenesis, the branching enzyme introduces branches to growing glycogen chains by transferring α-1,4-linked glucose monomers from the outer end of a chain into an α-1,6 position of the same or neighboring glycogen chain. [6]

- Deficiency of GBE affects the branching process, yielding a polysaccharide which has fewer branching points and longer outer chains, thus resembling amylopectin. This new amylopectin-like structure is also known as polyglucosan. [7]

- The enzyme deficiency affects all the bodily tissues; but liver, heart, skeletal muscles, and the nervous system are mostly affected.

- The abnormally branched glycogen accumulates as intracytoplasmic non membrane-bound inclusions in hepatocytes, myocytes, and neuromuscular system; where it increases osmotic pressure within cells, causing cellular swelling and death.[8][9]

- The altered structure also renders glycogen to become less soluble, and this is thought to lead into a foreign body reaction causing fibrosis, and finally culminating in liver failure. [10][11]

- In skeletal muscle, accumulation leads to muscle weakness, fatigue, exercise intolerance, and muscular atrophy. [12]

- Regarding the heart, a wide spectrum of cardiomyopathy from dilated to hypertrophic and from asymptomatic to decompensated heart failure may occur. [13]

- Although exact mechanism is not known, glycogen deposition in the myocardium is thought to initiate signaling pathways which cause sarcomeric hypertrophy, resulting in hypertrophic cardiomyopathy.[14]

''' '''

'''Molecular Genetics:'''

 • Glycogen branching enzyme is a 702 amino acid protein encoded by GBE1 gene mapped to chromosome 3p12.2 and is transmitted as an autosomal recessive trait. [21][5] HUGO Gene Nomenclature Committee <nowiki>https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4180</nowiki> The Universal Protein Resource (UniProt) <nowiki>http://www.uniprot.org/uniprot/Q04446</nowiki>

 • Mutations in the GBE1 are responsible for enzymatic deficiency, and so far 40 pathogenic variants have been identified in individuals with GSD IV or adult-onset polyglucosan body disease (APBD).PMID: 23285490

'''CAUSES:'''

The cause of GSD type IV is variable deficiency of glycogen branching enzyme. The deficiency is due to various mutations of GBE1 gene encoding the single polypeptide protein.

'''Differential Diagnosis:'''

Comparisons may be useful for a differential diagnosis as a number of other disease conditions with clinical features may present similar to those associated with GSD Type IV.

Presenting as hepatomegaly in infancy, the following glycogen metabolism disorders should be differentiated from GSD Type IV;

-GSD Type I

-GSD Type III

-GSD Type VI

-Hepatic Phosphorylase b Kinase Deficiency

Metabolic disorders presenting with muscle weakness/myopathy during infancy should also be considered;

Muscle glycogen synthase deficiency (GSD0b)

Lysosomal acid maltase deficiency (GSD II)

Glycogen debrancher deficiency (GSD III)

Muscle phosphorylase deficiency (GSD V)

Aldolase A deficiency (GSD XII)

Glycogenin-1 deficiency (GSD XV)

''' '''

'''EPIDEMIOLOGY:'''

'''FREQUENCY-''' The frequency of all glycogen storage diseases is estimated to be 1 in 20,000 to 25,000 live births, while GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals worldwide. NORD GHR <nowiki>https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv#statistics</nowiki>

'''SEX-''' Males and females appear to be affected in relatively equal numbers [NORD] because the deficiency of glycogen-branching enzyme activity is inherited as an autosomal-recessive trait.

'''RACE-''' Familial aggregation is observed in about 30% of adult polyglucosan body disease cases especially among Ashkenazi Jewish populations. NORD

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'''References'''

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ILLINGWORTH B, CORI GT.

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2. Familial cirrhosis of the liver with storage of abnormal glycogen.

''ANDERSEN DH''

''Lab Invest. 1956 Jan-Feb; 5(1):11-20.''

3. Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.

Brown BI, Brown DH.

Proc Natl Acad Sci U S A. 1966 Aug;56(2):725-9.

4. Hum Mol Genet. 2011 Feb 1;20(3):455-65. doi: 10.1093/hmg/ddq492. Epub 2010 Nov 12.

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. Lee YC1, Chang CJ, Bali D, Chen YT, Yan YT.

'''5'''. Acta Myol. 2011 Oct; 30(2): 96–102.

PMCID: PMC3235878 Progress and problems in muscle glycogenoses

S. Di Mauro and R. Spiegel1

'''6'''. Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21.

'''7'''. PubMed: 15019703

Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004;14:253–60.

8. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast.

''Thon VJ, Khalil M, Cannon JF''

''J Biol Chem. 1993 Apr 5; 268(10):7509-13.''

9. Hum Pathol. 2012 Jun;43(6):943-51. doi: 10.1016/j.humpath.2011.10.001. Epub 2012 Feb 2.

10. DOI: 10.1056/NEJM199101033240111

11. '''Severe cardiopathy enzyme deficiency in branching'''

Serenella Servidei, M.D., Roger E. Riepe, M.D., Claire Langston, M.D.,Lloyd Y: Tani, M.D., J. Timothy Bricker, M.D., Naoma Crisp-Lindgren, M.D.,Henry Travers, M.D., Dawna Armstrong, M.D., and

Salvatore DiMauro, M.D.

12. National Organization for Rare Disorders (NORD): rarediseases.org/rare-diseases/andersen-disease-gsd-iv/

13. <nowiki>http://dx.doi.org/10.1155/2012/764286</nowiki>

14. DOI: 10.1056/NEJMra0902923

15. Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Mochel F1, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A.

16. American Journal of Medical Genetics 139A:118–122 (2005)

17. Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J. Clin. Invest. 97: 941-948, 1996.

18. Neonatal presentation of lethal neuromuscular glycogen storage disease type IV L F Escobar, S Wagner, M Tucker & J Wareham ''Journal of Perinatology'' '''32''', 810–813 (2012) doi:10.1038/jp.2011.178

19. Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1 Andreas R.Janecke MD Susanne Dertinger MD Uwe-Peter Ketelsen MD Lothar Bereuter MD Burkhard Simma MD Thomas Müller MD Wolfgang Vogel MD Felix A. Offner MD

<nowiki>https://doi.org/10.1016/j.jpeds.2004.07.024</nowiki>

20. Magoulas PL, El-Hattab AW. Glycogen Storage Disease Type IV. 2013 Jan 3. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: <nowiki>https://www.ncbi.nlm.nih.gov/books/NBK115333/</nowiki>

21. World J Gastroenterol. 2007 May 14; 13(18): 2541–2553.

Published online 2007 May 14. doi: 10.3748/wjg.v13.i18.2541 PMCID: PMC4146814 Glycogen storage diseases: New perspectives Hasan Özen

22. Glycogen branching enzyme deficiency in adult polyglucosan body disease.

Bruno C, Servidei S, Shanske S, Karpati G, Carpenter S, McKee D, Barohn RJ, Hirano M, Rifai Z, DiMauro S

Ann Neurol. 1993;33(1):88.

23. Adult polyglucosan body myopathy.

Goebel HH, Shin YS, Gullotta F, Yokota T, Alroy J, Voit T, Haller P, Schulz A

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24. Ann Neurol. Author manuscript; available in PMC 2015 Feb 16.

Ann Neurol. 2012 Sep; 72(3): 433–441. doi: 10.1002/ana.23598 PMCID: PMC4329926 NIHMSID: NIHMS415710

Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings

Fanny Mochel, MD, PhD,1,2,3,4 Raphael Schiffmann, MD,5 Marjan E. Steenweg, MD,6 Hasan O. Akman, PhD,7 Mary Wallace, RD,5 Frédéric Sedel, MD, PhD,1,3,8 Pascal Laforêt, MD,3,9 Richard Levy, MD, PhD,4,10,11 J. Michael Powers, MD,12 Sophie Demeret, MD,8 Thierry Maisonobe, MD,13 Roseline Froissart, PhD,14 Bruno Barcelos Da Nobrega, MD,15 Brent L. Fogel, MD, PhD,16 Marvin R. Natowicz, MD, PhD,17 Catherine Lubetzki, MD, PhD,1,4,8 Alexandra Durr, MD, PhD,12 Alexis Brice, MD,1,2,4,8 Hanna Rosenmann, PhD,18 Varda Barash, PhD,19 Or Kakhlon, PhD,18 J. Moshe Gomori, MD,20 Marjo S. van der Knaap, MD, PhD,6 and Alexander Lossos, MD18

25. <nowiki>PMID 8274116</nowiki>

= Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. =
Lee YC1, Chang CJ, Bali D, Chen YT, Yan YT.

'''5'''. Acta Myol. 2011 Oct; 30(2): 96–102.

PMCID: PMC3235878 Progress and problems in muscle glycogenoses

S. DiMauro and R. Spiegel1

'''6'''. Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21.

'''7'''. Neuromusc. Disord. 14: 253-260, 2004. [PubMed: 15019703

==References==
{{Reflist|2}}