12 results
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
IgA Vasculitis – ... predisposition - Various genetic ... (GD-IgA1). ... vasculitis (100%) - Gastrointestinal ... HenochScholeinPurpura #Pathophysiology
Diagnosis of IgA Vasculitis (Henoch-Schönlein Purpura) - French Vasculitis Study Group 

1) Suggestive clinical manifestations
Diagnosis of IgA ... patients - Gastrointestinal ... Elevated serum IgA ... - Dominant IgA ... #Rheumatology #Peds
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... HYPERCHYLOMICRONEMIA) Type IIA ... hypercholesterolemia #pathophysiology ... #lipoproteins #genetics
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 ... #Neonatology #Peds
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Genetic Predisposition ... undetectable levels of IgA ... , IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
d-Transposition of the Great Arteries
 • Anatomy
 • Epidemiology
 • Associated Lesions
 • Pathophysiology/Presentation
 • Classic
Associated Lesions • Pathophysiology ... , MD #dTGA #TGA ... Great #Arteries #peds
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
pathway (GI = gastrointestinal ... Reye syndrome (Peds ... deficiency #Ammonia #Pathophysiology