155 results
diagnosis differential causes algorithm pathophysiology management cardiology clinical genetics pharmacology peds treatment pediatrics cardiomyopathy endocrinology table signs syndrome hepatology nejm
Ashkenazi Jewish Genetic Screening Algorithm • Bloom syndrome • Canavan disease • Familial dysautonomia • Fanconi
Ashkenazi Jewish ... Genetic Screening ... ARUPConsult @ARUPLabs #Ashkenazi ... #Jewish #Genetic
Harlequin Ichthyosis Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
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 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
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia Type I (FAMILIAL HYPERCHYLOMICRONEMIA) Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Abnormal Lipid Profiles - Differential Diagnosis Algorithm Increased Cholesterol and Triglycerides - Genetic Causes
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
Primary and Secondary Causes of Cardiomyopathy (a) Primary cardiomyopathies - Genetic - Mixed (genetic/acquired)
cardiomyopathies - Genetic ... - Mixed (genetic
Etiologies of Hypoaldosteronism Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone) - Diabetic Nephropathy - NSAIDs Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... Sulfamethoxazole - Genetic
Some of the techniques used for Antenatal Diagnosis Amniocentesis - Chromosome/micro-array and DNA analysis -
Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic
Melanoma Pathogenesis Environmental exposure (UV light) + genetic susceptibility (CDKN2A, CDK4, MC1R, BRAF, p16/ARF genes) → accumulation
exposure (UV light) + genetic ... accumulation of genetic
Etiologies of hypertrophic cardiomyopathy - Genetic - Storage diseases - Neuromuscular and mitochondrial disorders
cardiomyopathy - Genetic
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