Progeria diagnostic study of choice: Difference between revisions

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<small> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
 
===== 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].


==References==
==References==

Revision as of 16:39, 27 July 2019

Progeria Microchapters

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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

  • The diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) is based on the clinical presentation, which include the following:
    • Failure to thrive in the first year of life
    • Very peculiar facial presentation which include:
      • Micrognathia(Jaw is undersized)
      • Prominent eyes(protruding eyes)
      • Circumoral cyanosis(blue discoloration around the mouth)
    • Alopecia
    • Prominent scalp veins
    • Sclerotic skin changes
    • Joint contractures
    • Decreased range of motion in the joints
Test Sensitivity Specificity
Test 1 ...% ...%
Test 2 ...% ...%

References

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