942 results
diagnosis differential symptoms signs management cardiology pharmacology endocrinology causes nephrology syndrome algorithm hematology clinical hepatology infectiousdiseases peds treatment complications msk
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia Type I (FAMILIAL HYPERCHYLOMICRONEMIA) Type IIA
lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #lipoproteins #genetics
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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 A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... HLA-DR4 mutation ... Temporal #Arteritis #Pathophysiology
Congestive Heart Failure - Causes, Pathophysiology and Differential Diagnosis • Dilated Cardiomyopathy • Hypertrophic Cardiomyopathy
Failure - Causes, Pathophysiology ... Infiltrative • Genetic ... HeartFailure #Causes #Pathophysiology
Causes of Hypercalcemia due to increased Vitamin D levels • The BIG 3:
Paraffin-associated granuloma • Genetic ... elasticum, CYP24A1 mutation ... infantile), SLC34A1 mutation
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic
Melanoma Pathogenesis Environmental exposure (UV light) + genetic susceptibility (CDKN2A, CDK4, MC1R, BRAF, p16/ARF genes) → accumulation
exposure (UV light) + genetic ... accumulation of genetic ... #Pathophysiology
Autosomal Dominant Inheritance - Most common mode of Mendelian inheritance - Affected individual carries the
family history (new mutation ... #Inheritance #Genetics
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
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