701 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
#21HydroxylaseDeficiency #21OHD ... pathophysiology #genetics
Common Etiologies of Cirrhosis

Inflammation

 - Hepatitis B (15 percent)

 - Hepatitis C (47 percent)

 - Schistosomiasis
Methotrexate Genetic ... #Differential #Hepatology
Elevated Liver Function Tests (LFTs) - Differential Diagnosis Framework
Mild (<100-500): 
 • NAFLD
 • Cirrhosis
 •
500-1000): • Genetic ... Differential #Diagnosis #hepatology
Patterns of Liver Injury
Transaminase Levels:
  > 50x normal - Ischemic Hepatitis
  > 20x normal
Hemolysis, NASH, Genetic ... Liver #Injury #hepatology
Primary Biliary Cirrhosis - Pathophysiology
Environmental Risk Factors: Geographic location, Smoking, Microbial triggers, Xenobiotics, Nail polish
Epigentics Risk
DNA methylation Genetic ... Pathophysiology #hepatology
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
Treatment of Thrombotic Thrombocytopenic Purpura (TTP)
Diagnosis of TTP:
 • Rare and severe, ADAMTS13 deficiency
 • Autoimmune
Autoimmune >> genetic ... #rheumatology #hematology