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__NOTOC__
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{{Wiskott-Aldrich syndrome}}


{{CMG}}; {{AE}} {{CK}}
{{CMG}}; {{AE}} {{CK}}
==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==
==Causes==
[[Cyanosis]] can be caused by the following mechanisms, systemic arterial oxygen desaturation and increased oxygen extraction by the tissues. Based on these mechanisms, Cyanosis can be either Central or Peripheral. Certain conditions present with bluish purple discoloration of skin or mucous membranes, can mimic cyanosis, are not associated with [[hypoxemia]] or peripheral vasoconstriction and is called Pseudocyanosis.
Disease name] may be caused by [cause1], [cause2], or [cause3].
===Common Causes===
 
====Central Cyanosis:====
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 [[Pericarditis causes#Overview|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


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


===Life Threatening Causes===
[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].
Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.
{{MultiCol|80%}}
*[[Carbon monoxide poisoning]]
*[[Cardiac tamponade]]
*[[Cyanide poisoning]]
*[[Disseminated intravascular coagulation]]
*[[Epiglottitis]]
*[[Ethylene glycol]]
*[[Foreign body aspiration]]
*[[Hemothorax]]
*[[Malathion]]
*[[Myocardial infarction]]
*[[Parathion]]
*[[Pulmonary embolism]]
*[[Tension pneumothorax]]  


===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==
{{reflist|2}}


<references />
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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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