6 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... #Genetics #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... pulmonale #PraderWilli ... #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Total Anomalous Pulmonary ... Classification • Pathophysiology ... Classic “snowman sign ... management #cardiology #peds ... #pediatrics #summary
TRALI vs TACO - Transfusion Reactions
TRALI:
 • Epidemiology: 0.1% of transfused patientsl
 • Risk factors: Critical
blood donor • Pathophysiology ... fluid balance, and CXR ... with pulmonary ... Reactions #hematology #diagnosis ... #comparison #table
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... e.g. incidental CXR ... Pulmonary: dyspnea ... acute sarcoidosis Pulmonary ... #Management #Signs