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A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... 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
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... Pediatrics #Table #NICU ... #Genetics #IEM
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
#21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Bandemia Overview

Normal: < 1%
Clinically significant: > 10%

Band neutrophils are slightly less mature than segmented neutrophils and
Left Shift: • ... Metamyelocyte (Left Shift ... Neutrophil (Normal) Differential ... #Bandemia #differential ... #pathophysiology
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... Diagnosis #Management #Endocrinology ... #Treatment #Pathophysiology
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
ATRA treatment Pathophysiology ... initiation • Differential ... organ dysfuxtion, ICU ... diagnosis #management #hematology
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
serotoninergic meds ... disease caused by genetic ... anesthetics by Nick ... table #diagnosis #differential