6 results
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 #NICU
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... Pediatrics #Table #NICU ... #Genetics #IEM
Liver Function Tests (LFTs) - Normal Values and Interpretation

Alanine aminotransferase (ALT/SGPT) - Liver, cardiac & skeletal
Liver Function Tests ... (GGT) - Liver, biliary ... hepatocellular injury, genetic ... Interpretation #diagnosis ... #hepatology
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
the study) • Triggers ... ATRA treatment Pathophysiology ... initiation • Differential ... organ dysfuxtion, ICU ... #management #hematology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
(or triggers) is ... Familial) HLH: - Genetic ... Pathophysiology ... Impaired cytotoxic function ... #Management #Hematology
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
disease caused by genetic ... ryanodine receptor) & triggered ... anesthetics by Nick ... comparison #table #diagnosis ... #differential #