38 results
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 ... #Genetics #Pathophysiology ... Neonatology #Peds #Pediatrics
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)

#PIMSTS #Pediatrics #Inflammatory #Multisystem #Syndrome #Peds #Signs
Pediatric Inflammatory ... Multisystem Syndrome ... PIMS-TS) #PIMSTS #Pediatrics ... #Multisystem #Syndrome ... #Peds #Signs #Symptoms
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
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 Provoked Pediatric Seizures - Differential Diagnosis Algorithm - "DIMS" Mnemonic
Drugs:
 • Drug overdose
 •
Causes of Provoked Pediatric ... Encephalitis Metabolic ... • Sturge-Weber Syndrome ... #Causes #Peds #Pediatrics
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)
Clinical features
all: fever > 101.3 F
most: oxygen
Pediatric Inflammatory ... Multisystem Syndrome ... neck swelling #Pediatrics ... #Inflammatory #Syndrome ... diagnosis #Signs #Symptoms
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay: • Syndromic ... • Genetic Disorder ... Landau-Kleffner Syndrome ... #Causes #Peds #Pediatrics
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Myocarditis Metabolic ... Inborn Errors of Metabolism ... • Reye's Syndrome ... #Causes #Peds #Pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms