9 results
Jaundice - Pathophysiology and Causes

- Amy Chung, MD, MSc @AmyChung 

#Jaundice #Pathophysiology #Differential #Unconjugated #Causes #Diagnosis
Jaundice - Pathophysiology ... @AmyChung #Jaundice ... #Pathophysiology ... #Differential #Unconjugated
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology
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
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... cardiology #peds #pediatrics
Inherited forms of Hyperbilirubinemia
Major pathways involved in bilirubin production, conjugation, and excretion. Notes: Both the UB
for transporting unconjugated ... Decreased MRP2 - Conjugated ... Decreased OATP1B - Conjugated ... Hyperbilirubinemia #pathophysiology ... congenital #hepatology #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
#21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Childhood Immunization Schedule: Why we immunize
 • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
anorexia, nausea, jaundice ... Immunization #peds #pediatrics ... #pathophysiology
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
paediatrician or geneticist ... Jaundice within ... Examination #Peds #Pediatrics