11 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... infiltration) Differential ... Liver #Pregnancy #hepatology ... diagnosis #management #pathophysiology
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Lymphoproliferative Disorders - Differential ... pattern of spread, B symptoms ... Classification #pathophysiology ... #Hematology #Diagnosis ... #NonHodgkin #differential
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on 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 ... bile ducts Differential ... diagnosis #workup #hepatology
Childhood Immunization Schedule: Why we immunize
 • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
invade URT & via hematologic ... hemorrhagic rash; symptoms ... causes CNS and hematologic ... Immunization #peds #pediatrics ... #pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
or triggers) is crucial ... Familial) HLH: - Genetic ... Common Signs and Symptoms ... Pathophysiology ... Diagnosis #Management #Hematology