Progeria diagnostic study of choice: Difference between revisions

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Latest revision as of 17:42, 7 August 2019

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

There is no single diagnostic study of choice for the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS), but Hutchinson-Gilford progeria syndrome (HGPS) can be diagnosed based on clinical presentation and genetic testing of the gene LMNA gene (c.1824C>T[p.Gly608Gly]).

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

Template:WH Template:WS

@@ Line 1: / Line 1: @@
 __NOTOC__
-{{}}
+{{Progeria}}
-{{CMG}}; {{AE}}
+{{CMG}}; {{AE}} {{VKG}}
 == Overview ==
+There is no single [[diagnostic]] study of choice for the [[diagnosis]] of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]).
 == 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==

Progeria diagnostic study of choice: Difference between revisions

Latest revision as of 17:42, 7 August 2019

Overview

Diagnostic Study of Choice

References

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