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diagnosis genetics inbornerrors metabolism neonatology nicu syndrome table 21hydroxylasedeficiency 21ohd algorithm apml biliary cardiology childhood cholangitis cirrhosis differentiation endocrinology forms
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 ... #Pediatrics #Table ... NICU #Genetics #IEM
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... #Pediatrics #Table ... #IEM #NICU #InbornErrors
Congenital Long QT Syndrome: Illness Script Who? - Kids or young adults, usually < 30 - high
Congenital Long ... live births Symptoms ... arrest/death - Symptoms ... term monitor** Triggers ... variable penetrance (ie
Inherited forms of Hyperbilirubinemia Major pathways involved in bilirubin production, conjugation, and excretion. Notes: Both the UB
Unconjugated Crigler-Najjar ... Hyperbilirubinemia #pathophysiology ... #congenital #hepatology ... #pediatrics #peds
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
also known as "congenital ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
Differentiation Syndrome in APML Epidemiology: • Incidence: common in APL (2-48% depending on the study) • Triggers:
the study) • Triggers ... ATRA treatment Pathophysiology ... Diagnosis: >3 symptoms ... initiation • Differential ... diagnosis #management #hematology
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
65 years PBC Pathophysiology ... PBC Signs and Symptoms ... up to 70% • IgM ... bile ducts Differential ... diagnosis #workup #hepatology
Childhood Immunization Schedule: Why we immunize • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
hemorrhagic rash; symptoms ... organ ischemia -> Congenital ... non-specific viral symptoms ... #Immunization #peds ... #pediatrics #pathophysiology
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