Cowden syndrome diagnostic study of choice: Difference between revisions

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There are no established criteria for the diagnosis of [disease name].
There are no established criteria for the diagnosis of [disease name].
==Diagnosis==
===Diagnostic Criteria===
* The [[diagnostic criteria]] of [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is based on the [[Cowden syndrome]]/PHTS criteria, which include:
'''Pilarski et al diagnostic criteria''':
* Pilarski et al [[diagnostic criteria]] is proposed by [[National Comprehensive Cancer Network]] (NCCN) which include<ref name="pmid203016612">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref>
* [[Diagnosis]] require
** Any two major positive [[criteria]] [[symptoms]] or
** One major and two minor positive [[criteria]] [[symptoms]]  or
** Three minor positive [[criteria]] [[symptoms]]
{| class="wikitable"
!
'''Major criteria'''<ref name="pmid203016613">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref>
!'''Minor criteria'''<ref name="pmid203016614">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Eng C |title= |journal= |volume= |issue= |pages= |date= |pmid=20301661 |doi= |url=}}</ref>
|-
|
* [[Macrocephaly]] ([[occipital]] frontal circumference ≥97th percentile)
* [[Breast cancer]]
* [[Thyroid cancer]]
* [[Endometrial carcinoma]]
* [[Gastrointestinal]] [[hamartomas]]
* [[Penis|Penile]] [[pigmentation]]
|
* [[Autism spectrum disorder|Autism spectrum disorders]]
** [[Intellectual disability]] (IQ ≤75)
* [[Colon cancer]]
* [[Fibroma|Fibromas]]
* [[Uterine]] [[fibroids]]
* [[Genitourinary]] [[tumors]]
* [[Genitourinary]] [[malformation]]
* [[Glycogenic acanthosis]] of the [[esophagus]]
* [[Testicular]] [[lipomatosis]]
|}


==References==
==References==

Revision as of 18:05, 1 March 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

Diagnostic Study of Choice

Study of choice

[Name of the investigation] is the gold standard test for the diagnosis of [disease name].

OR

The following result of [gold standard test] is confirmatory of [disease name]:

  • [Result 1]
  • [Result 2]

OR

[Name of the investigation] must be performed when:

  • The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
  • A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.

OR

[Name of the investigation] is the gold standard test for the diagnosis of [disease name].

OR

The diagnostic study of choice for [disease name] is [name of the investigation].

OR

There is no single diagnostic study of choice for the diagnosis of [disease name].

OR

There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].

OR

[Disease name] is primarily diagnosed based on the clinical presentation.

OR

Investigations:

  • Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
  • Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
  • Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.

The comparison of various diagnostic studies for [disease name]

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

[Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity

Diagnostic results

The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:

  • [Finding 1]
  • [Finding 2]
Sequence of Diagnostic Studies

The [name of investigation] must 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.

OR

The various investigations must be performed in the following order:

  • [Initial investigation]
  • [2nd investigation]

Name of Diagnostic Criteria

It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.

[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].

OR

There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].

OR

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].

OR

The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].

OR

[Disease name] may be diagnosed at any time if one or more of the following criteria are met:

  • Criteria 1
  • Criteria 2
  • Criteria 3

OR

IF there are clear, established diagnostic criteria

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].

OR

The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].

OR

The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].

OR

IF there are no established diagnostic criteria

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

Diagnosis

Diagnostic Criteria

Pilarski et al diagnostic criteria:

Major criteria[2]

Minor criteria[3]

References

  1. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
  2. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
  3. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)

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