15 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 ... #Genetics #Pathophysiology ... #Neonatology #Peds ... #Pediatrics #Table
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
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
algorithm #causes #pediatrics ... comparison #treatment #Peds ... #Endocrinology ... #Adrenal #pathophysiology
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds ... #pediatrics #treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... 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
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings

Parasomnias - Micro-arousal episodes during SWS ->
Intense activation of
Pediatric Parasomnias ... Parasomnias #Nightmares #Pediatrics ... #Peds #pathophysiology ... #symptoms #pharmacology
Hypothyroid Myopathy
Very common (up to 80% ) in patients with hypothyroidism
Pathophysiology:
 • T4 deficiency leads to
hypothyroidism Pathophysiology ... mitochondrial oxidative metabolism ... Hypothyroid #Myopathy #pathophysiology ... #signs #symptoms ... #endocrinology
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
lipolysis Signs/Symptoms ... thickness) - metabolic ... #FeedbackLoop #endocrinology ... #pathophysiology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
#OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics