202 results
diagnosis differential causes management algorithm pathophysiology clinical cardiology hematology pharmacology endocrinology treatment peds table pediatrics signs syndrome disease nejm neurology
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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 Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia Type I (FAMILIAL HYPERCHYLOMICRONEMIA) Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Causes of Hypercalcemia due to increased Vitamin D levels • The BIG 3:
Paraffin-associated granuloma • Genetic ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation
Autosomal Dominant Inheritance - Most common mode of Mendelian inheritance - Affected individual carries the
family history (new mutation ... #Inheritance #Genetics
Acute Limb Ischemia - Diagnosis and Management #Diagnosis #Management #Algorithm #Limb #Ischemia #Ischemic #Amputation
Ischemia #Ischemic #Amputation
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... HLA-DR4 mutation
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm • Polycythemia vera → Blood JAK2 mutation screening
vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
Abnormal Lipid Profiles - Differential Diagnosis Algorithm Increased Cholesterol and Triglycerides - Genetic Causes
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
Leigh Syndrome History: 19-month-old girl with hypotonia, developmental delay, failure to thrive, and bilateral optic disc
biochemical & genetic ... deficiency with MTND mutation
Diabetic foot infections (DFIs) is a common complication of longstanding diabetes, and it is associated with
lower extremity amputation ... on to require amputation ... lower extremity amputation ... lower extremity amputation
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