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| {{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]]). |
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| == Diagnostic Study of Choice == | | == Diagnostic Study of Choice == |
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| === 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]. | |
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| | * 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 |
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| OR
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| [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
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| OR
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| The diagnostic study of choice for [disease name] is [name of the investigation].
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| OR
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| There is no single diagnostic study of choice for the diagnosis of [disease name].
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| OR
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| 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].
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| [Disease name] is primarily diagnosed based on the clinical presentation.
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| OR
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| Investigations:
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| * 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. | |
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| ==== The comparison of various diagnostic studies for [disease name] ====
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| {|
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| |- style="background: #4479BA; color: #FFFFFF; text-align: center;"
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| ! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
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| ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
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| ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
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| |-
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| ! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
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| | style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
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| | style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
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| |-
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| ! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
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| | style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
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| | style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
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| |}
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| <small> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
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| ===== Diagnostic results =====
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| The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
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| * [Finding 1] | |
| * [Finding 2] | |
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| ===== Sequence of Diagnostic Studies =====
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| The [name of investigation] must be performed when:
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| * 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. | |
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| OR
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| The various investigations must be performed in the following order:
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| * [Initial investigation] | |
| * [2nd investigation] | |
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| === Name of Diagnostic Criteria ===
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| '''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.'''
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| [Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
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| There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
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| OR
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| 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].
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| OR
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| The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
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| OR
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| [Disease name] may be diagnosed at any time if one or more of the following criteria are met:
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| * Criteria 1 | |
| * Criteria 2 | |
| * Criteria 3 | |
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| OR
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| '''IF there are clear, established diagnostic criteria'''
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| 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].
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| OR
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| The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
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| OR
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| The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
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| OR
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| '''IF there are no established diagnostic criteria'''
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| There are no established criteria for the diagnosis of [disease name].
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| ==References== | | ==References== |