4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... fractures • Short ... 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
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
lipolysis Signs/Symptoms ... deficiency: - Short ... #FeedbackLoop #endocrinology ... #pathophysiology
Childhood Immunization Schedule: Why we immunize
 • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
Tetanus Toxin -> Spores ... hemorrhagic rash; symptoms ... lymph -> Koplik's spots ... Immunization #peds #pediatrics ... #pathophysiology