39 results
Simplified Diagnosis of Metabolic Disorders
#Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Simplified Diagnosis of Metabolic ... Disorders #Diagnosis #Peds ... #Metabolic #Diseases ... Disorders #Ketones #Ammonia ... #Differential #
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... 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
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
and decreased metabolism ... rare): - Reye syndrome ... (Peds) - Primary ... #Pathophysiology ... Hyperammonemia #Differential
Non-cirrhotic Hyperammonemia - Differential Diagnosis Framework

Hematologic & Vascular:
 • Multiple myeloma & Acute leukemia (plasma cells
Hyperammonemia - Differential ... Y t amino acid metabolism ... Hyperammonemia #ammonia ... #Differential # ... Diagnosis #Pathophysiology
Causes of Rhabdomyolysis - Differential Diagnosis
 • Drugs & Toxins (Statins, alcohol, cocaine)
 • Direct Muscle
Rhabdomyolysis - Differential ... malignant neuroleptic syndrome ... (myositis) • Metabolic ... hypothyroidism) • Genetic ... enzymes or lipid metabolism
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 ... management #cardiology #peds
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 ... Algorithm #Causes #Peds
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Event (ALTE) - Differential ... Myocarditis Metabolic ... Inborn Errors of Metabolism ... • Reye's Syndrome ... Algorithm #Causes #Peds