100 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Differential #
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
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #lipoproteins #genetics
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Diagnosis Algorithm ... Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
Congestive Heart Failure - Causes, Pathophysiology and Differential Diagnosis
 • Dilated Cardiomyopathy 
 • Hypertrophic Cardiomyopathy
Failure - Causes, Pathophysiology ... and Differential ... Infiltrative • Genetic ... HeartFailure #Causes #Pathophysiology ... #Differential #
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
Insufficiency - Differential ... Diagnosis Workup Algorithm ... Adrenoleukodystrophy, genetic ... Insufficiency #Differential ... Diagnosis #Workup #Algorithm
Melanoma Pathogenesis

Environmental exposure (UV light) + genetic susceptibility (CDKN2A, CDK4, MC1R, BRAF, p16/ARF genes) → accumulation
exposure (UV light) + genetic ... accumulation of genetic ... #Pathophysiology
Primary and Secondary Causes of Cardiomyopathy
(a) Primary cardiomyopathies 
 - Genetic 
 - Mixed (genetic/acquired)
cardiomyopathies - Genetic ... - Mixed (genetic ... Cardiomyopathy #Differential
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... Sulfamethoxazole - Genetic ... Hypoaldosteronism #Differential