172 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential
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
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
Causes of Unprovoked Pediatric Seizures -  Epilepsy Syndromes - Differential Diagnosis Algorithm 
Infantile:
 • Benign
of Unprovoked Pediatric ... - Differential ... • Dravet Syndrome ... Unprovoked #Seizures #Differential ... #Causes #Peds #Pediatrics
Carcinoid Syndrome - Pathophysiology, Signs and Symptoms
Symptoms: Flushing, diarrhea, palpitations, bronchospasm
Complications: Carcinoid heart, mesenteric fibrosis, pellagra,
Carcinoid Syndrome ... - Pathophysiology ... , Signs and Symptoms ... #Pathophysiology ... #Signs #Symptoms
Causes of Pediatric Diarrhea - Differential Diagnosis Algorithm
Infectious:
 • Viral
 • Bacterial
 • Parasitic
Malabsorption:
 • Lactase
Causes of Pediatric ... Diarrhea - Differential ... • Short Bowel Syndrome ... Irritable Bowel Syndrome ... #Causes #Peds #Pediatrics
Cubital Tunnel Syndrome: Pathogenesis and clinical findings

 • Paresthesia of 5th and medial half of 4th
Cubital Tunnel Syndrome ... test • + Tinel sign ... CubitalTunnel #Syndrome ... #Diagnosis #pathophysiology ... #signs #symptoms
Congestive Heart Failure - Causes, Pathophysiology and Differential Diagnosis
 • Dilated Cardiomyopathy 
 • Hypertrophic Cardiomyopathy
Failure - Causes, Pathophysiology ... and Differential ... Infiltrative • Genetic ... HeartFailure #Causes #Pathophysiology ... #Differential #
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 ... #Causes #Peds #Pediatrics