16 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
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Elevated Liver Function Tests (LFTs) - Differential Diagnosis Framework
Mild (<100-500): 
 • NAFLD
 • Cirrhosis
 •
Function Tests (LFTs ... ) - Differential ... 500-1000): • Genetic ... #Differential # ... Diagnosis #hepatology
Bleeding disorders in children

#Bleeding #Disorders #Differential #Hematology #Pediatrics #Peds
Bleeding #Disorders #Differential ... #Hematology #Pediatrics ... #Peds
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds ... #pediatrics #treatment
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
Liver Function Tests (LFTs) - Normal Values and Interpretation

Alanine aminotransferase (ALT/SGPT) - Liver, cardiac & skeletal
Function Tests (LFTs ... hepatocellular injury, genetic ... conjugation (Gillbert, Crigler-Najjar ... Function #Tests #LFTs ... Interpretation #diagnosis #hepatology
Patterns of Liver Injury
Transaminase Levels:
  > 50x normal - Ischemic Hepatitis
  > 20x normal
Hemolysis, NASH, Genetic ... Liver #Injury #hepatology ... #LFTs #transaminitis ... #differential #
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Syndromic • Genetic ... DevelopmentalDelay #Differential ... Algorithm #Causes #Peds ... #Pediatrics