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== Overview ==
== Overview ==
There is no single [[diagnostic]] study of choice for the [[diagnosis]] of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]).


== Diagnostic Study of Choice ==
== Diagnostic Study of Choice ==


=== Study of choice ===
* There is no single [[diagnostic]] study of choice for the [[diagnosis]] of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]), but [[Hutchinson-Gilford progeria syndrome]] ([[Progeria|HGPS]]) can be [[Diagnosis|diagnosed]] based on [[clinical]] presentation and [[genetic testing]] of the gene ''[[LMNA]]'' gene (c.1824C>T[p.Gly608Gly]).
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].


OR
* 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
The following result of [gold standard test] is confirmatory of [disease name]:
** Very peculiar facial presentation which include:
* [Result 1]
*** Micrognathia(Jaw is undersized)
* [Result 2]
*** Prominent eyes(protruding eyes)
 
*** Circumoral cyanosis(blue discoloration around the mouth)
OR
** Alopecia
 
** Prominent scalp veins
[Name of the investigation] must be performed when:
** Sclerotic skin changes
* The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
** Joint contractures
* A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.
** Decreased range of motion in the joints
 
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] ====
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|}
<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==

Latest revision as of 17:42, 7 August 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

There is no single diagnostic study of choice for the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS).

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

References

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