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__NOTOC__
__NOTOC__
{{Wiskott-Aldrich syndrome}}


{{CMG}}; {{AE}} {{CK}}
{{CMG}}; {{AE}} {{CK}}
==Overview==
==Overview==
==Historical Perspective==
[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].
The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].
There have been several outbreaks of [disease name], including -----.
In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].
==Classification==
There is no established system for the classification of [disease name].
OR
[Disease name] may be classified according to [classification method] into [number] subtypes/groups: [group1], [group2], [group3], and [group4].
OR
[Disease name] may be classified into [large number > 6] subtypes based on [classification method 1], [classification method 2], and [classification method 3].
[Disease name] may be classified into several subtypes based on [classification method 1], [classification method 2], and [classification method 3].
OR
Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.
OR
If the staging system involves specific and characteristic findings and features:
According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].
OR
The staging of [malignancy name] is based on the [staging system].
OR
There is no established system for the staging of [malignancy name].
==Pathophysiology==
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
==Causes==
Disease name] may be caused by [cause1], [cause2], or [cause3].
Disease name] may be caused by [cause1], [cause2], or [cause3].


Line 17: Line 93:
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click [[Pericarditis causes#Overview|here]].
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click [[Pericarditis causes#Overview|here]].


==Causes==
==Differentiating ((Page name)) from Other Diseases==
===Life-threatening Causes===
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
*Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of [[disease name]], however complications resulting from untreated [[disease name]] is common.
 
*Life-threatening causes of [symptom/manifestation] include [cause1], [cause2], and [cause3].
OR
*[Cause] is a life-threatening cause of [disease].
 
[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].
 
==Epidemiology and Demographics==
The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
 
OR
 
In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
 
OR
 
In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.
 
 
 
Patients of all age groups may develop [disease name].
 
OR
 
The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
 
OR
 
[Disease name] commonly affects individuals younger than/older than [number of years] years of age.
 
OR
 
[Chronic disease name] is usually first diagnosed among [age group].
 
OR
 
[Acute disease name] commonly affects [age group].
 
 
 
There is no racial predilection to [disease name].
 
OR
 
[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
 
 
 
[Disease name] affects men and women equally.
 
OR
 
[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
 
 
 
The majority of [disease name] cases are reported in [geographical region].
 
OR
 
[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
 
==Risk Factors==
There are no established risk factors for [disease name].
 
OR
 
The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].
 
OR
 
Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
 
OR
 
Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.
 
==Screening==
There is insufficient evidence to recommend routine screening for [disease/malignancy].
 
OR
 
According to the [guideline name], screening for [disease name] is not recommended.
 
OR
 
According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].
 
==Natural History, Complications, and Prognosis==
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
 
OR
 
Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
 
OR
 
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
 
==Diagnosis==
===Diagnostic Study of Choice===
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
 
There are no established criteria for the diagnosis of [disease name].
 
===History and Symptoms===
The majority of patients with [disease name] are asymptomatic.
 
OR
 
The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
 
===Physical Examination===
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
 
OR
 
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
 
OR
 
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
 
===Laboratory Findings===
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
 
OR
 
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
 
OR
 
[Test] is usually normal among patients with [disease name].
 
OR
 
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
 
OR
 
There are no diagnostic laboratory findings associated with [disease name].
 
===Electrocardiogram===
There are no ECG findings associated with [disease name].
 
OR
 
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
===X-ray===
There are no x-ray findings associated with [disease name].
 
OR
 
An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
 
===Echocardiography or Ultrasound===
There are no echocardiography/ultrasound  findings associated with [disease name].
 
OR
 
Echocardiography/ultrasound  may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no echocardiography/ultrasound  findings associated with [disease name]. However, an echocardiography/ultrasound  may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
 
===CT scan===
There are no CT scan findings associated with [disease name].
 
OR
 
[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
 
===MRI===
There are no MRI findings associated with [disease name].
 
OR
 
[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
 
===Other Imaging Findings===
There are no other imaging findings associated with [disease name].
 
OR
 
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
===Other Diagnostic Studies===
There are no other diagnostic studies associated with [disease name].
 
OR
 
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].
 
==Treatment==
===Medical Therapy===
There is no treatment for [disease name]; the mainstay of therapy is supportive care.
 
OR
 
Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
 
OR
 
The majority of cases of [disease name] are self-limited and require only supportive care.
 
OR
 
[Disease name] is a medical emergency and requires prompt treatment.
 
OR
 
The mainstay of treatment for [disease name] is [therapy].
 
OR
 
The optimal therapy for [malignancy name] depends on the stage at diagnosis.
 
OR
 
[Therapy] is recommended among all patients who develop [disease name].
 
OR
 
Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
 
OR
 
Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
 
OR
 
Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
 
OR
 
Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].
 
===Surgery===
Surgical intervention is not recommended for the management of [disease name].
 
OR
 
Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]
 
OR
 
The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].
 
OR


===Common Causes===
The feasibility of surgery depends on the stage of [malignancy] at diagnosis.
====Central Cyanosis====
There following are some of the Common causes of Central Cyanosis:<ref name="pmid1523025">{{cite journal |vauthors=DiMaio AM, Singh J |title=The infant with cyanosis in the emergency room |journal=Pediatr. Clin. North Am. |volume=39 |issue=5 |pages=987–1006 |date=October 1992 |pmid=1523025 |doi= |url= |author=}}</ref> <ref name="pmid2407997">{{cite journal |vauthors=Driscoll DJ |title=Evaluation of the cyanotic newborn |journal=Pediatr. Clin. North Am. |volume=37 |issue=1 |pages=1–23 |date=February 1990 |pmid=2407997 |doi= |url= |author=}}</ref> <ref name="pmid25604592">{{cite journal |vauthors=Frank DB, Hanna BD |title=Pulmonary arterial hypertension associated with congenital heart disease and Eisenmenger syndrome: current practice in pediatrics |journal=Minerva Pediatr. |volume=67 |issue=2 |pages=169–85 |date=April 2015 |pmid=25604592 |pmc=4382100 |doi= |url= |author=}}</ref> <ref name="pmid22482063">{{cite journal |vauthors=Izraelit A, Ten V, Krishnamurthy G, Ratner V |title=Neonatal cyanosis: diagnostic and management challenges |journal=ISRN Pediatr |volume=2011 |issue= |pages=175931 |date= 2011 |pmid=22482063 |pmc=3317242 |doi=10.5402/2011/175931 |url= |author=}}</ref> <ref name="pmid21462449">{{cite journal |vauthors=Serino G, Giacomazzi F |title=[Pulmonary arterial hypertension in adult patients with congenital heart disease] |language=Italian |journal=Pediatr Med Chir |volume=32 |issue=6 |pages=274–9 |date= 2010 |pmid=21462449 |doi= |url= |author=}}</ref> <ref name="pmid7073040">{{cite journal |vauthors=Curry S |title=Methemoglobinemia |journal=Ann Emerg Med |volume=11 |issue=4 |pages=214–21 |date=April 1982 |pmid=7073040 |doi= |url= |author=}}</ref> <ref name="pmid15342970">{{cite journal |vauthors=Ash-Bernal R, Wise R, Wright SM |title=Acquired methemoglobinemia: a retrospective series of 138 cases at 2 teaching hospitals |journal=Medicine (Baltimore) |volume=83 |issue=5 |pages=265–73 |date=September 2004 |pmid=15342970 |doi= |url= |author=}}</ref> <ref name="pmid28722923">{{cite journal |vauthors=Kondamudi NP, Dulebohn SC |title= |journal= |volume= |issue= |pages= |date= |pmid=28722923 |doi= |url= |author=}}</ref>
*'''Conditions associated with decreased concentration of inspired oxygen (FiO2):'''
**[[Smoke inhalation]] most commonly from house fires
**[[Carbon monoxide poisoning]]
**Hydrogen [[cyanide poisoning]]
**Intentional or unintensional exposure to asphyxiating gases (eg, [[Propane]], [[methane]], [[Butane|butane,]] [[Hydrogen sulfide|hydrogen sulphide]])
*'''Decresed atmospheric pressure: [[Altitude sickness|High altitude]]'''
*'''Disorders associated with impairment of chest wall or lung expansion:'''
**External compression
**[[Pneumothorax]]
**[[Hemothorax]]
**[[Flail chest]]
*'''Hypoventilation:'''
**'''Upper airway obstruction:'''
***[[Foreign body aspiration]]
***[[Pertussis]] / [[Croup]]
***[[Epiglottitis]]
***[[Tracheitis]] mostly bacterial
***Traumatic disruption (burns, fractures)
***Congenital airway abnormalities:
****[[Choanal atresia]]
****[[Laryngotracheomalacia]]
****[[Macroglossia]]
****[[Micrognathia]] or [[Retrognathism|retrognathia]] (eg, Pierre-Robin syndrome)
**'''Neurologic abnormalities:'''
***[[CNS depression]]
***Severe head trauma
***[[Apnea of prematurity]]
***Infections (eg, [[meningitis]], [[encephalitis]])
***[[Intraventricular hemorrhage]]
***[[Seizure|Seizures]]
***Cyanotic breath holding spells
***[[Coma]]
**'''Neuromuscular disorders:'''
*** [[Myasthenia gravis]]
***Injury to the phrenic nerve
***Type 1 spinal muscular dystrophy (Wernig-Hoffman disease)
**'''Metabolic disorders:'''
***Severe [[hypoglycemia]]
***In born errors of metabolism
*'''Ventilation/perfusion mismatch:'''
**[[Asthma]]
**[[Pulmonary embolism]]
**[[Atelectasis]]
**[[Alveolar capillary dysplasia]]
**[[emphysema]] or [[Chronic obstructive pulmonary disease|COPD]]
**[[Pulmonary edema]]
**Pulmonary hypoplasia
**[[Pulmonary hemorrhage]]
**[[Acute respiratory distress syndrome|Respiratory distress syndrome]] (Hyaline membrane disease)
**[[Transient tachypnea of the newborn]]
*'''Conditions causing impaired oxygen diffusion:'''
**[[Pulmonary fibrosis]]
**[[Pulmonary edema]]
*[[Pneumonia]]
*[[Bronchiolitis]]
*[[Bronchopulmonary dysplasia]]
*[[Cystic fibrosis]]
*[[Empyema]]
*'''Circulatory causes:'''
**'''Cyanotic congenital heart diseases (Right to left shunts):'''
***'''Decreased pulmonary flow:'''
****[[Tetralogy of Fallot|Tetralogy of fallot]]
****Tricuspid valve anomalies:
*****[[Tricuspid atresia]]
*****[[Tricuspid stenosis]]
*****[[Ebstein's anomaly of the tricuspid valve|Ebstein's anomaly]]
****[[Pulmonary valve stenosis|Pulmonary stenosis]] (critical valvular)
****[[Pulmonary atresia]] with intact ventricular septum
***'''Increased pulmonary flow:'''
****[[TGA]] (Transposition of great arteries, most common dextro type)
****[[Truncus arteriosus]]
****[[Total anomalous pulmonary venous connection|TAPVC]] (Total anamalous pulmonary venous connection)
***'''Heart failure:'''  Condition that present with cyanosis and  severe heart failure include:
****Left sided obstructive lesion ([[Hypoplastic left heart syndrome|HLHS]])
****[[Aortic coarctation|Coarctation of aorta]]
****Critical valvular [[aortic stenosis]]
**'''[[Eisenmenger's syndrome|Eisenmenger syndrome]]'''
**'''Pulmonary causes:'''
***[[Pulmonary hypertension]]
***[[Pulmonary edema]]
***[[Pulmonary hemorrhage]]
***[[Pulmonary embolism]]
***Pulmonary arterio venous malformations
***Multiple small intrapulmonary shunts
**'''[[Shock]]'''
**'''[[Sepsis]]'''
**'''[[Acute chest syndrome]]'''
*'''Hematologic abnormalities:'''
**[[Methemoglobinemia]] (congenital or acquired)
**[[Sulfhemoglobinemia]] (acquired)
**Hemoglobin mutations with low oxygen affinity: Hb Kansas,  Hb Beth israel, Hb Saint Mande, Hb Bruxells
**[[Polycythemia]]
*Brief resolved unexplained events (BRUE)


====Peripheral Cyanosis====
OR
There following are some of the Common causes of Peripheral Cyanosis: <ref name="pmid27899893">{{cite journal |vauthors=Fardoun MM, Nassif J, Issa K, Baydoun E, Eid AH |title=Raynaud's Phenomenon: A Brief Review of the Underlying Mechanisms |journal=Front Pharmacol |volume=7 |issue= |pages=438 |date= 2016 |pmid=27899893 |pmc=5110514 |doi=10.3389/fphar.2016.00438 |url= |author=}}</ref> <ref name="pmid24249890">{{cite journal |vauthors=Das S, Maiti A |title=Acrocyanosis: an overview |journal=Indian J Dermatol |volume=58 |issue=6 |pages=417–20 |date=November 2013 |pmid=24249890 |pmc=3827510 |doi=10.4103/0019-5154.119946 |url= |author=}}</ref>
*Various conditions that cause central cyanosis can also cause peripheral cyanosis.
*[[Hypothermia|Cold exposure]]
*Decreased cardiac output ([[Congestive heart failure|Left sided heart failure]], [[shock]] or [[hypovolemia]])
*[[Acrocyanosis]]
*[[Raynaud's phenomenon]]
*Arterial obstruction [[Peripheral arterial disease|(Peripheral vascular disease]])
*Venous obstruction ([[Thromboembolism]])
*Redistribution of blood flow from extremities


Surgery is the mainstay of treatment for [disease or malignancy].


===Primary Prevention===
There are no established measures for the primary prevention of [disease name].


OR


There are no available vaccines against [disease name].


[Disease name] may be caused by:
OR
*[Cause1]
*[Cause2]
*[Cause3]


Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].


OR
OR


[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].
===Secondary Prevention===
There are no established measures for the secondary prevention of [disease name].
OR


*[Disease name] is caused by an infection with [pathogen name].
Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].
*[Pathogen name] is caused by [pathogen name].


===Less Common Causes===
==References==
Less common causes of [[disease name]] include:
{{reflist|2}}
*[Cause1]
*[Cause2]
*[Cause3]


===Genetic Causes===
{{WikiDoc Help Menu}}
*[Disease name] is caused by a mutation in the [gene name] gene.
{{WikiDoc Sources}}
<references />

Latest revision as of 14:46, 6 August 2018


Template:Wiskott-Aldrich syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Chandrakala Yannam, MD [2]


Overview

Historical Perspective

[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].

The association between [important risk factor/cause] and [disease name] was made in/during [year/event].

In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].

In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].

There have been several outbreaks of [disease name], including -----.

In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].

Classification

There is no established system for the classification of [disease name].

OR

[Disease name] may be classified according to [classification method] into [number] subtypes/groups: [group1], [group2], [group3], and [group4].

OR

[Disease name] may be classified into [large number > 6] subtypes based on [classification method 1], [classification method 2], and [classification method 3]. [Disease name] may be classified into several subtypes based on [classification method 1], [classification method 2], and [classification method 3].

OR

Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.

OR

If the staging system involves specific and characteristic findings and features: According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].

OR

The staging of [malignancy name] is based on the [staging system].

OR

There is no established system for the staging of [malignancy name].

Pathophysiology

The exact pathogenesis of [disease name] is not fully understood.

OR

It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].

OR

[Pathogen name] is usually transmitted via the [transmission route] route to the human host.

OR

Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.

OR


[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].

OR

The progression to [disease name] usually involves the [molecular pathway].

OR

The pathophysiology of [disease/malignancy] depends on the histological subtype.

Causes

Disease name] may be caused by [cause1], [cause2], or [cause3].

OR

Common causes of [disease] include [cause1], [cause2], and [cause3].

OR

The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.

Differentiating ((Page name)) from Other Diseases

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

OR

[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

Epidemiology and Demographics

The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.

OR

In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.

OR

In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.


Patients of all age groups may develop [disease name].

OR

The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.

OR

[Disease name] commonly affects individuals younger than/older than [number of years] years of age.

OR

[Chronic disease name] is usually first diagnosed among [age group].

OR

[Acute disease name] commonly affects [age group].


There is no racial predilection to [disease name].

OR

[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].


[Disease name] affects men and women equally.

OR

[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.


The majority of [disease name] cases are reported in [geographical region].

OR

[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].

Risk Factors

There are no established risk factors for [disease name].

OR

The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.

Screening

There is insufficient evidence to recommend routine screening for [disease/malignancy].

OR

According to the [guideline name], screening for [disease name] is not recommended.

OR

According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].

Natural History, Complications, and Prognosis

If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].

OR

Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].

OR

Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.

Diagnosis

Diagnostic Study of Choice

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

There are no established criteria for the diagnosis of [disease name].

History and Symptoms

The majority of patients with [disease name] are asymptomatic.

OR

The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].

Physical Examination

Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].

OR

Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

The presence of [finding(s)] on physical examination is diagnostic of [disease name].

OR

The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

Laboratory Findings

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal among patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

Electrocardiogram

There are no ECG findings associated with [disease name].

OR

An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

X-ray

There are no x-ray findings associated with [disease name].

OR

An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Echocardiography or Ultrasound

There are no echocardiography/ultrasound findings associated with [disease name].

OR

Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

CT scan

There are no CT scan findings associated with [disease name].

OR

[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

MRI

There are no MRI findings associated with [disease name].

OR

[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Other Imaging Findings

There are no other imaging findings associated with [disease name].

OR

[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

There are no other diagnostic studies associated with [disease name].

OR

[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

There is no treatment for [disease name]; the mainstay of therapy is supportive care.

OR

Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].

OR

The majority of cases of [disease name] are self-limited and require only supportive care.

OR

[Disease name] is a medical emergency and requires prompt treatment.

OR

The mainstay of treatment for [disease name] is [therapy].

OR   The optimal therapy for [malignancy name] depends on the stage at diagnosis.

OR

[Therapy] is recommended among all patients who develop [disease name].

OR

Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].

OR

Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].

OR

Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].

OR

Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].

Surgery

Surgical intervention is not recommended for the management of [disease name].

OR

Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]

OR

The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].

OR

The feasibility of surgery depends on the stage of [malignancy] at diagnosis.

OR

Surgery is the mainstay of treatment for [disease or malignancy].

Primary Prevention

There are no established measures for the primary prevention of [disease name].

OR

There are no available vaccines against [disease name].

OR

Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].

OR

[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].

Secondary Prevention

There are no established measures for the secondary prevention of [disease name].

OR

Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].

References


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