75 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Causes of Rhabdomyolysis - Differential Diagnosis
 • Drugs & Toxins (Statins, alcohol, cocaine)
 • Direct Muscle
Causes of Rhabdomyolysis ... malignant neuroleptic syndrome ... (myositis) • Metabolic ... hypothyroidism) • Genetic ... enzymes or lipid metabolism
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... management #cardiology #peds
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... • Genetic Disorder ... Landau-Kleffner Syndrome ... Diagnosis #Algorithm #Causes ... #Peds #Pediatrics
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Causes of Apparent ... Myocarditis Metabolic ... Inborn Errors of Metabolism ... • Reye's Syndrome ... #Peds #Pediatrics
Causes of Diffuse Lung Disease. 
Collagen vascular 
 - Scleroderma 
 - Rheumatoid arthritis 
 -
Causes of Diffuse ... Churg-Strauss syndrome ... Chronic mycoses Genetic ... sclerosis - Metabolic ... #Differential #Causes
Common Etiologies of Cirrhosis

Inflammation

 - Hepatitis B (15 percent)

 - Hepatitis C (47 percent)

 - Schistosomiasis
Methotrexate Genetic ... disease (Budd-Chiari syndrome ... #Differential #Hepatology ... #Cirrhosis #Causes
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
although hepatic causes ... and decreased metabolism ... rare): - Reye syndrome ... (Peds) - Primary ... deficiency #Ammonia #Pathophysiology