22 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 ... #Neonatology #Peds
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... management #cardiology #peds
Isolated Hyperbilirubinemia - Differential Diagnosis Algorithm
Direct Hyperbilirubinemia: Dubin-Johnson Syndrome, Rotor Syndrome
Indirect Hyperbilirubinemia: 
 - Trauma, Hematoma,
Hyperbilirubinemia - Differential ... , Rotor Syndrome ... , Crigler-Najjar ... Hyperbilirubinemia #Isolated #Differential ... Diagnosis #Algorithm #hepatology
Primary Biliary Cirrhosis - Pathophysiology
Environmental Risk Factors: Geographic location, Smoking, Microbial triggers, Xenobiotics, Nail polish
Epigentics Risk
Biliary Cirrhosis - Pathophysiology ... Smoking, Microbial triggers ... DNA methylation Genetic ... relative with PBC Pathophysiology ... #hepatology
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
Jaundice - Differential Diagnosis Algorithm
Pre-Hepatic - Unconjugated Hyperbilirubinemia
Increased Production
 • Hemolysis
 • Ineffective Erythropoiesis
 • Hematoma
Decreased
Jaundice - Differential ... • Gilbert's Syndrome ... • Crigler-Najjar ... Syndromes (l and ... Algorithm #Causes #Hepatology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... #PraderWilli #Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
Common Etiologies of Cirrhosis

Inflammation

 - Hepatitis B (15 percent)

 - Hepatitis C (47 percent)

 - Schistosomiasis
Methotrexate Genetic ... disease (Budd-Chiari syndrome ... #Diagnosis #Differential ... #Hepatology #Cirrhosis
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Developmental Delay: • Syndromic ... • Genetic Disorder ... Landau-Kleffner Syndrome ... Algorithm #Causes #Peds
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... • Triggers: Diuretics ... : • Pathophysiology ... into serum • Triggers ... diagnosis #management #hematology