5780 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... in macrophages Diagnosis ... @YannNgyn #Gauchers ... #Disease #Diagnosis
Lysosomal Storage Disorders

Mucolipidoses
 • I-Cell Disease

Mucopolysaccharidoses
 • Hurler
 • Hunter

Sphingolipidoses
 • Tay Sachs
 • Fabry
 •
• Fabry • Gaucher ... pathophysiology #diagnosis
Etiology of Splenic Infarction:
 • Hypercoagulability: Factor V Leiden, Antiphospholipid syndrome, Malignancy
 • Embolic disease: Atrial
neoplasm, Lymphoma, Gaucher ... #differential #diagnosis
Causes of Splenomegaly - Differential Diagnosis Algorithm
Infectious
 • Bacterial
 • Viral (EBV)
 • Parasitic
 • Fungal
Congestive
- Differential Diagnosis ... Amyloidosis • Gaucher's ... #Differential #Diagnosis
Ashkenazi Jewish Genetic Screening Algorithm
 • Bloom syndrome
 • Canavan disease
 • Familial dysautonomia
 • Fanconi
anemia group C • Gaucher ... Screening #Algorithm #diagnosis
Restrictive Cardiomyopathy - Diagnosis and Causes
Clinical: Dyspnea, Exercise Intolerance, ↑ "Right Sided-Symptoms" (ascites, hepatomegaly, ↑↑peripheral edema)
Physical
Cardiomyopathy - Diagnosis ... Danon Disease, Gaucher ... Cardiomyopathy #Diagnosis
Cardiomyopathies 

Manifestations of cardiomyopathy (CM) range from microscopic alterations in cardiac myocytes to fulminant Heart Failure
(Amyloidosis, Gaucher ... Cardiomyopathies #cardiology #diagnosis
Clinical Classification of Pulmonary Hypertension

1. Pulmonary arterial hypertension from pulmonary vasculopathy
Idiopathic pulmonary arterial hypertension
Heritable gene mutations
storage disease, Gaucher ... Classification #Diagnosis
Leptospirosis
Pathogen: Leptospira (interrogans, kirschneri, noguchii)
Risk Factors:
 • Occupational exposure - Farmers, ranchers, trappers, veterinarians
 • Recreational
exposure - Farmers, ranchers ... disease ARDS Diagnosis ... #microbiology #diagnosis
Abdominal Pain - Differential Diagnosis According to Localization of Abdominal Pain 

Abdominal pain can originate from
- Differential Diagnosis ... your differential diagnoses ... When diagnosing ... the differential diagnoses ... #Diagnosis #Differential