Progeria diagnostic study of choice: Difference between revisions

Jump to navigation Jump to search
Gunnam (talk | contribs)
Gunnam (talk | contribs)
 
(4 intermediate revisions by the same user not shown)
Line 3: Line 3:
{{CMG}}; {{AE}} {{VKG}}
{{CMG}}; {{AE}} {{VKG}}
== 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 ===
[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 [[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]).
* 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]).
Line 48: Line 20:
** Joint contractures
** Joint contractures
** Decreased range of motion in the joints  
** Decreased range of motion in the joints  
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

Progeria Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Progeria from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Progeria diagnostic study of choice On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Progeria diagnostic study of choice

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Progeria diagnostic study of choice

CDC on Progeria diagnostic study of choice

Progeria diagnostic study of choice in the news

Blogs on Progeria diagnostic study of choice

Directions to Hospitals Treating Psoriasis

Risk calculators and risk factors for Progeria diagnostic study of choice

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

Template:WH Template:WS