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diagnosis differential causes algorithm cardiology cardiomyopathy screening spleen brca breast cancer cardiomyopathies classification disease diseases disorders enlarged genetic hematology hypertension
Ashkenazi Jewish Genetic Screening Algorithm • Bloom syndrome • Canavan disease • Familial dysautonomia • Fanconi
Ashkenazi Jewish ... anemia group C • Gaucher ... ARUPConsult @ARUPLabs #Ashkenazi
Gaucher Disease Pathophsiology • Lysosomal storage disorder • Deficiency of ß-glucocerebrosidase • Accumulation of glucosylceramide in macrophages Diagnosis
Gaucher Disease ... @YannNgyn #Gauchers
Who to test for BRCA 1/2? Female Breast Cancer: • ≤ 45-50 years at diagnosis • Triple
• Any age and Ashkenazi ... prostate cancer and: Ashkenazi ... assessment) • Ashkenazi
Lysosomal Storage Disorders Mucolipidoses • I-Cell Disease Mucopolysaccharidoses • Hurler • Hunter Sphingolipidoses • Tay Sachs • Fabry •
• Fabry • Gaucher
Etiology of Splenic Infarction: • Hypercoagulability: Factor V Leiden, Antiphospholipid syndrome, Malignancy • Embolic disease: Atrial
neoplasm, Lymphoma, Gaucher
Causes of Splenomegaly - Differential Diagnosis Algorithm Infectious • Bacterial • Viral (EBV) • Parasitic • Fungal Congestive
Amyloidosis • Gaucher's
Leptospirosis Pathogen: Leptospira (interrogans, kirschneri, noguchii) Risk Factors: • Occupational exposure - Farmers, ranchers, trappers, veterinarians • Recreational
exposure - Farmers, ranchers
Restrictive Cardiomyopathy - Diagnosis and Causes Clinical: Dyspnea, Exercise Intolerance, ↑ "Right Sided-Symptoms" (ascites, hepatomegaly, ↑↑peripheral edema) Physical
Danon Disease, Gaucher
Cardiomyopathies Manifestations of cardiomyopathy (CM) range from microscopic alterations in cardiac myocytes to fulminant Heart Failure
(Amyloidosis, Gaucher
Clinical Classification of Pulmonary Hypertension 1. Pulmonary arterial hypertension from pulmonary vasculopathy Idiopathic pulmonary arterial hypertension Heritable gene mutations
storage disease, Gaucher
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