1762 results
Gaucher Disease 

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

Mucolipidoses
 • I-Cell Disease

Mucopolysaccharidoses
 • Hurler
 • Hunter

Sphingolipidoses
 • Tay Sachs
 • Fabry
 •
Mucolipidoses • I-Cell Disease ... • Fabry • Gaucher ... Storage #Disorders #Diseases
Etiology of Splenic Infarction:
 • Hypercoagulability: Factor V Leiden, Antiphospholipid syndrome, Malignancy
 • Embolic disease: Atrial
Malignancy • Embolic disease ... neoplasm, Lymphoma, Gaucher ... disease • Hemoglobinopathy ... : Sickle cell disease
Causes of Splenomegaly - Differential Diagnosis Algorithm
Infectious
 • Bacterial
 • Viral (EBV)
 • Parasitic
 • Fungal
Congestive
Amyloidosis • Gaucher's ... Disease • Glycogen ... Storage Disease ... Sickness Hemolytic Disease ... • Sickle Cell Disease
Ashkenazi Jewish Genetic Screening Algorithm
 • Bloom syndrome
 • Canavan disease
 • Familial dysautonomia
 • Fanconi
syndrome • Canavan disease ... anemia group C • Gaucher ... disease • Mucolipidosis ... • Niemann-Pick disease ... A • Tay-Sachs disease
Clinical Classification of Pulmonary Hypertension

1. Pulmonary arterial hypertension from pulmonary vasculopathy
Idiopathic pulmonary arterial hypertension
Heritable gene mutations
Connective tissue diseases ... Congenital heart disease ... veno-occlusive disease ... to left heart disease ... , Gaucher disease
Restrictive Cardiomyopathy - Diagnosis and Causes
Clinical: Dyspnea, Exercise Intolerance, ↑ "Right Sided-Symptoms" (ascites, hepatomegaly, ↑↑peripheral edema)
Physical
, Nieman-Pick Disease ... , Danon Disease, ... Gaucher Disease ... Glycogen Storage Disease ... Carcinoid Heart Disease
Cardiomyopathies 

Manifestations of cardiomyopathy (CM) range from microscopic alterations in cardiac myocytes to fulminant Heart Failure
(Amyloidosis, Gaucher ... Hemochromatosis, Fabry's disease
Leptospirosis
Pathogen: Leptospira (interrogans, kirschneri, noguchii)
Risk Factors:
 • Occupational exposure - Farmers, ranchers, trappers, veterinarians
 • Recreational
exposure - Farmers, ranchers ... Presentation: • Mild disease ... Meningitis • Weil's Disease ... Severe pulmonary disease
General overview of lung diseases. 

#diagnosis #causes #lung #disease #restrictive #obstructive #pulmonary #respiratory #pearls #ddxof
overview of lung diseases ... #causes #lung #disease