71 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
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
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... • Genetic Disorder ... #Diagnosis #Algorithm ... #Causes #Peds #
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
Causes of Unprovoked Pediatric Seizures -  Epilepsy Syndromes - Differential Diagnosis Algorithm 
Infantile:
 • Benign
- Differential ... Diagnosis Algorithm ... Unprovoked #Seizures #Differential ... #Diagnosis #Algorithm ... #Causes #Peds #
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... management #cardiology #peds
Algorithm for the diagnostic evaluation of dizziness. (HINTS = head-impulse, nystagmus, test of skew.)
Questions regarding the
Algorithm for the ... dizziness) and triggers ... Timing of the symptom ... provoke the symptom ... #Differential #
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Lipid Profiles - Differential ... Diagnosis Algorithm ... • Nephrotic Syndrome ... • Nephrotic Syndrome ... #Diagnosis #Algorithm
Isolated Hyperbilirubinemia - Differential Diagnosis Algorithm
Direct Hyperbilirubinemia: Dubin-Johnson Syndrome, Rotor Syndrome
Indirect Hyperbilirubinemia: 
 - Trauma, Hematoma,
Hyperbilirubinemia - Differential ... Diagnosis Algorithm ... , Crigler-Najjar ... Hyperbilirubinemia #Isolated #Differential ... #Diagnosis #Algorithm
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
environmental triggers ... not proven) - Genetic ... old; F>M Signs/Symptoms ... Temporal #Arteritis #Pathophysiology ... Diagnosis #Signs #Symptoms