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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Hamid Qazi, MD, BSc [2]

Overview

Historical Perspective

===Discovery===[1][2]

  • Peutz-Jeghers syndrome was first discovered by Dr. Connor, a British, in 1895 in identical twin sisters.
  • The association between gastrointestinal polyposis with distinctive pigmentation of the skin and Peutz-Jeghers syndrome was made in 1921 by Dr. Johannes Peutz of Holland.
  • In 1949, Dr. Harold Jeghers of United States was the first to discover the association between combination of intestinal polyposis and skin pigmentation, and the development of Peutz-Jeghers syndrome.
  • In 1954, A. Bruwer used the eponym Peutz-Jeghers syndrome
  • In 1998, serine/threonine-protein kinase 11 alias LKB1 (STK11/LKB1) gene mutations were first implicated in the pathogenesis of Peutz-Jeghers syndrome.

Classification

  • There is no established system for the classification of Peutz-Jeghers syndrome.

Pathophysiology

Pathogenesis

  • It is thought that Peutz-Jeghers syndrome is the result of deletion or partial deletion of STK11 (LBK1) gene, located on chromosome 19p13.3.[1]
  • STK11 protein plays an important role in second messenger signal transduction and is found to regulate cellular proliferation, controls cell polarity, and responds to low energy states.
  • In Mammalian studies, STK11 is shown in the inhibition of AMP-activated protein kinase (AMPK), and signals downstream to inhibit the mammalian target of rapamycin (mTOR).[1]
    • The mTOR pathway is dysregulated in Peutz-Jeghers syndrome.

Pathology

  • Peutz-Jeghers syndrome associated polyps have a unique smooth muscle core that arborizes throughout the polyp.[1]
    • These polyps can only be differentiated from other polyp types by histopathology.

Causes

  • Peutz-Jeghers syndrome is caused by STK11 gene mutation
  • Variable penetrance

Epidemiology and Demographics

Prevalence

  • The prevalence of Peutz-Jeghers syndrome is estimated to be 1 in 8300 to 250000
  • Most likely prevalence is 1 in 100000

Age

  • Peutz-Jeghers syndrome affects individuals between the ages of 10 to 30 years; average age of diagnosis is 23 years for males and 26 years for females.

Gender

  • Males and females are equally affected.

Risk Factors

  • There are no established risk factors for Peutz-Jeghers

Screening

  • According to the American College of Gastroenterology (ACG) and the National Comprehensive Cancer Network (NCCN), screening for Peutz-Jeghers syndrome by physical exam, complete blood work for iron deficiency anemia, and endoscopy are recommended every year among patients with Peutz-Jeghers Syndrome.

Natural History, Complications, and Prognosis

Natural History

  • The symptoms of Peutz-Jeghers syndrome usually develop in the first decade of life, and start with symptoms such as hyperpigmentation, abdominal pain, and rectal bleeding.
  • If left untreated, patients with Peutz-Jeghers syndrome may progress to develop colon cancer, breast cancer, and gastrointestinal cancers.
  • Extraintestinal manifestation include pancreatic, lung, breast, uterine, ovarian and testicular malignancies.

Complications

  • Common complications of Peutz-Jeghers syndrome include:
    • Intussusception
    • Gastric outlet obstruction
    • Extraintestinal polyps

Prognosis

  • Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
  • Depending on the extent of the [tumor/disease progression/etc.] at the time of diagnosis, the prognosis may vary. However, the prognosis is generally regarded as poor/good/excellent.
  • The presence of [characteristic of disease] is associated with a particularly [good/poor] prognosis among patients with [disease/malignancy].
  • [Subtype of disease/malignancy] is associated with the most favorable prognosis.
  • The prognosis varies with the [characteristic] of tumor; [subtype of disease/malignancy] have the most favorable prognosis.

===Preferred Table==="Peutz-Jeghers Syndrome - GeneReviews® - NCBI Bookshelf". |- style="background: #4479BA; color: #FFFFFF; text-align: center;" ! rowspan="2" |Diseases ! colspan="4" |History and Symptoms ! colspan="4" |Physical Examination ! colspan="4" |Laboratory Findings ! rowspan="2" |Other Findings |- style="background: #4479BA; color: #FFFFFF; text-align: center;" !Abdominal Pain !Rectal Bleeding !Hyperpigmentation !Fatigue !Abdominal Pain !Hyperpigmentation !Anemia !Physical Finding 4 !Gene(s) !Sertoli Cell Tumors !Gastrointestinal Tumors !Cancers |- | style="background: #DCDCDC; padding: 5px; text-align: center;" |Juvenile Polyposis Syndrome | style="background: #F5F5F5; padding: 5px;" |+ | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |+ | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |- | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" |SMAD4

BMPR1A | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |Adenoma+ 

Hamartoma+++ | style="background: #F5F5F5; padding: 5px;" |Colon | style="background: #F5F5F5; padding: 5px;" | |- | style="background: #DCDCDC; padding: 5px; text-align: center;" |Cowden Syndrome | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |- | style="background: #F5F5F5; padding: 5px;" |Axillary+

Inguinal+

Facial+ | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" |Axillary+

Inguinal+

Facial+ | style="background: #F5F5F5; padding: 5px;" |- | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" |PTEN | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |Adenoma+ 

Hamartoma+++ | style="background: #F5F5F5; padding: 5px;" |Breast, Thyroid, Endometrium | style="background: #F5F5F5; padding: 5px;" |Trichilemmoma, skin hamartoma, hyperplastic polyps, macrocephaly, breast fibrosis |- | style="background: #DCDCDC; padding: 5px; text-align: center;" |Carney Syndrome | style="background: #F5F5F5; padding: 5px;" |- | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |Facial+

Mucosal+ | style="background: #F5F5F5; padding: 5px;" |- | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" |Facial+

Mucosal+ | style="background: #F5F5F5; padding: 5px;" |- | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" |PRKAR1A | style="background: #F5F5F5; padding: 5px;" | ++ | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" |Thyroid | style="background: #F5F5F5; padding: 5px;" |Myxomas of skin and heart |- | style="background: #DCDCDC; padding: 5px; text-align: center;" |Familial Adenomatous Polyposis | style="background: #F5F5F5; padding: 5px;" |+ | style="background: #F5F5F5; padding: 5px;" |+ | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |+ | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |+ | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" |APC | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |Adenoma+++ | style="background: #F5F5F5; padding: 5px;" |Colon, brain | style="background: #F5F5F5; padding: 5px;" |Desmoid tumors, osteomas |- | style="background: #DCDCDC; padding: 5px; text-align: center;" |Hereditary Non-Polyposis Colon Cancer | style="background: #F5F5F5; padding: 5px;" |- | style="background: #F5F5F5; padding: 5px;" |+ | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |+ | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |+ | style="background: #F5F5F5; padding: 5px;" | | style="background: #F5F5F5; padding: 5px;" |MLH1

MSH2

MSH3

MSH6

PMS1

PMS2 | style="background: #F5F5F5; padding: 5px;" | - | style="background: #F5F5F5; padding: 5px;" |Adenoma+ | style="background: #F5F5F5; padding: 5px;" |Endometrial, gastric, renal pelvis, ureter, and ovarian | style="background: #F5F5F5; padding: 5px;" |Sebaceous adenoma |}

Use if the above table can not be made

Differential Diagnosis Similar Features Differentiating Features
Juvenile Polyposis Syndrome
  • On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].
  • On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Cowden Syndrome
  • On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].
  • On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Carney Syndrome
  • On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].
  • On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Familial Adenomatous Polyposis
  • On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].
  • On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].
Hereditary Non-Polyposis Colon Cancer
  • On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] also observed in [disease name].
  • On [physical exam; history; diagnostic test; imaging], [Differential 1] {has; demonstrates} [feature 1], [feature 2], [feature 3] that distinguish it from [disease name].

References

  1. 1.0 1.1 1.2 1.3 Kopacova, Marcela; Tacheci, Ilja; Rejchrt, Stanislav; Bures, Jan (2009). "Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach". World Journal of Gastroenterology. 15 (43): 5397. doi:10.3748/wjg.15.5397. ISSN 1007-9327.
  2. Giardiello, F; Trimbath, J (2006). "Peutz-Jeghers Syndrome and Management Recommendations". Clinical Gastroenterology and Hepatology. 4 (4): 408–415. doi:10.1016/j.cgh.2005.11.005. ISSN 1542-3565.

Overview

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Diagnostic Study of Choice

Template statements

Gold standard/Study of choice:

  • [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
  • The following result of [gold standard test] is confirmatory of [disease name]:
    • Result 1
    • Result 2
  • The [name of investigation] should be performed when:
    • The patient presented with symptoms/signs 1. 2, 3.
    • A positive [test] is detected in the patient.
  • [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
  • The diagnostic study of choice for [disease name] is [name of investigation].
  • There is no single diagnostic study of choice for the diagnosis of [disease name].
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The comparison table for diagnostic studies of choice for [disease name]

Sensitivity Specificity
Test 1 ...%
Test 2 ...%

✔= The best test based on the feature

Diagnostic results

The following result of [investigation name] is confirmatory of [disease name]:

  • Result 1
  • Result 2
Sequence of Diagnostic Studies

The [name of investigation] should be performed when:

  • The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
  • A positive [test] is detected in the patient, to confirm the diagnosis.

Diagnostic Criteria

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  • [Disease name] is mainly diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
  • There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
  • The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
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IF there are no established diagnostic criteria: 

  • There are no established criteria for the diagnosis of [disease name].


References

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor(s)-in-Chief:

Overview

The majority of patients with [disease name] are asymptomatic.

OR

The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].

History and Symptoms

  • Symptoms of Peutz-Jegher syndrome include abnormal pigmentation of the oral mucosa, abdominal pain, blood in stool, and extrusion of anal polyp. 

History

Patients with Peutz-Jegher syndrome may have a positive history of:

  • Intussesception at a young age

References

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [4]; Associate Editor(s)-in-Chief:

Overview

Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].

OR

Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

The presence of [finding(s)] on physical examination is diagnostic of [disease name].

OR

The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

Physical Examination

  • Physical examination of patients with [disease name] is usually remarkable for:[finding 1], [finding 2], and [finding 3].
  • The presence of [finding(s)] on physical examination is diagnostic of [disease name].
  • The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

Appearance of the Patient

  • Patients with [disease name] usually appear [general appearance].

Vital Signs

  • High-grade / low-grade fever
  • Hypothermia / hyperthermia may be present
  • Tachycardia with regular pulse or (ir)regularly irregular pulse
  • Bradycardia with regular pulse or (ir)regularly irregular pulse
  • Tachypnea / bradypnea
  • Kussmal respirations may be present in _____ (advanced disease state)
  • Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
  • High/low blood pressure with normal pulse pressure / wide pulse pressure / narrow pulse pressure

Skin

HEENT

  • Abnormalities of the head/hair may include ___
  • Evidence of trauma
  • Icteric sclera
  • Nystagmus
  • Extra-ocular movements may be abnormal
  • Pupils non-reactive to light / non-reactive to accomodation / non-reactive to neither light nor accomodation
  • Ophthalmoscopic exam may be abnormal with findings of ___
  • Hearing acuity may be reduced
  • Weber test may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
  • Rinne test may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
  • Exudate from the ear canal
  • Tenderness upon palpation of the ear pinnae / tragus (anterior to ear canal)
  • Inflamed nares / congested nares
  • Purulent exudate from the nares
  • Facial tenderness
  • Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae

Neck

Lungs

  • Asymmetric chest expansion / Decreased chest expansion
  • Lungs are hypo/hyperresonant
  • Fine/coarse crackles upon auscultation of the lung bases/apices unilaterally/bilaterally
  • Rhonchi
  • Vesicular breath sounds / Distant breath sounds
  • Expiratory/inspiratory wheezing with normal / delayed expiratory phase
  • Wheezing may be present
  • Egophony present/absent
  • Bronchophony present/absent
  • Normal/reduced tactile fremitus

Heart

  • Chest tenderness upon palpation
  • PMI within 2 cm of the sternum (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
  • Heave / thrill
  • Friction rub
  • S1
  • S2
  • S3
  • S4
  • Gallops
  • A high/low grade early/late systolic murmur / diastolic murmur best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the otoscope

Abdomen

Back

  • Point tenderness over __ vertebrae (e.g. L3-L4)
  • Sacral edema
  • Costovertebral angle tenderness bilaterally/unilaterally
  • Buffalo hump

Genitourinary

  • A pelvic/adnexal mass may be palpated
  • Inflamed mucosa
  • Clear/(color), foul-smelling/odorless penile/vaginal discharge

Neuromuscular

  • Patient is usually oriented to persons, place, and time
  • Altered mental status
  • Glasgow coma scale is ___ / 15
  • Clonus may be present
  • Hyperreflexia / hyporeflexia / areflexia
  • Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
  • Muscle rigidity
  • Proximal/distal muscle weakness unilaterally/bilaterally
  • ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
  • Unilateral/bilateral upper/lower extremity weakness
  • Unilateral/bilateral sensory loss in the upper/lower extremity
  • Positive straight leg raise test
  • Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
  • Positive/negative Trendelenburg sign
  • Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
  • Normal finger-to-nose test / Dysmetria
  • Absent/present dysdiadochokinesia (palm tapping test)

Extremities

  • Clubbing
  • Cyanosis
  • Pitting/non-pitting edema of the upper/lower extremities
  • Muscle atrophy
  • Fasciculations in the upper/lower extremity

References

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [5]; Associate Editor(s)-in-Chief:

Overview

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal among patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

Laboratory Findings

  • There are no diagnostic laboratory findings associated with [disease name].

OR

  • An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
  • [Test] is usually normal among patients with [disease name].
  • Laboratory findings consistent with the diagnosis of [disease name] include:
    • [Abnormal test 1]
    • [Abnormal test 2]
    • [Abnormal test 3]
  • Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

References

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [6]; Associate Editor(s)-in-Chief:

Overview

There are no ECG findings associated with [disease name].

OR

An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

Electrocardiogram

  • There are no ECG findings associated with [disease name].

OR

  • An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include
    • [Finding 1]
    • [Finding 2]
    • [Finding 3]

References

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