6 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds ... Pediatrics #Table #IEM
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
the study) • Triggers ... ATRA treatment Pathophysiology ... initiation • Differential ... Diagnosis: Infection ... #management #hematology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... Familial) HLH: - Genetic ... Pathophysiology ... Impaired cytotoxic function ... #Management #Hematology
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... Genetic predisposition ... studies show no ↓ LV function ... teratogenic GDMT meds ... Cardiomyopathy #diagnosis
Peripartum Cardiomyopathy (PPCM)

What is PPCM?
• A form of acute systolic heart failure that develops late in
🧬 Hormonal Triggers ... and damage heart function ... Susceptibility • Genetic ... , selenium) Differential ... recognition and management