177 results
diagnosis differential causes algorithm pathophysiology cardiology management clinical peds pediatrics pharmacology endocrinology table gastroenterology hematology signs syndrome cardiomyopathy nejm treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Complications: • Gonadal hypoplasia ... PraderWilli #Syndrome #genetics
Aplastic Anemia - Overview Who? • M = F • 3 peaks: 1) Childhood 2) 15-25 years 3) >60 years What? • Aplastic anemia
Syndromes: - Genetic ... Hypocellular/Hypoplastic ... Level ↑ • Marrow hypoplasia
Lingual Papillomas - He had macrocephaly (head circumference in the >97th percentile), as well as multiple
had a history of hyperplastic ... #Clinical #Genetics
Pancytopenia - Workup and Differential Diagnosis Algorithm Consumption Disorders 1. Autoimmune Mediated Pancytopenia 2. Splenic Sequestration Peripheral Destruction
Alcoholism Bone Marrow Hypoplasia ... Aplastic Anemia • Hypoplastic
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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 Pancytopenia - Workup and Differential Diagnosis Algorithm Consumption Disorders 1. Autoimmune Mediated Pancytopenia 2. Splenic Sequestration Peripheral Destruction
Alcoholism Bone Marrow Hypoplasia ... Aplastic Anemia • Hypoplastic
Hypoplastic Left Heart Syndrome (HLHS) • Introduction • Embryology • Anatomy • Physiology of HLHS •
Hypoplastic Left ... @crholton #Hypoplastic
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia Type I (FAMILIAL HYPERCHYLOMICRONEMIA) Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Posterior Fossa Abnormalities - Neuroradiology Differential Diagnosis - Mega Cisterna Magna - Pouch Cyst - Arachnoid
- Cerebellar Hypoplasia ... Pontocerebellar Hypoplasia
Abnormal Lipid Profiles - Differential Diagnosis Algorithm Increased Cholesterol and Triglycerides - Genetic Causes
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
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