8 results
Primary Biliary Cirrhosis - Pathophysiology
Environmental Risk Factors: Geographic location, Smoking, Microbial triggers, Xenobiotics, Nail polish
Epigentics Risk
Smoking, Microbial triggers ... DNA methylation Genetic ... relative with PBC ... Cholestasis #PBC ... #hepatology
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds ... #IEM #NICU #InbornErrors
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
Primary Biliary ... Pathophysiology ... up to 70% • IgM ... bile ducts Differential ... #workup #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 ... Diagnosis: Infection ... #management #hematology
Paraproteinemias

Entities That Can Feature A Monoclonal Protein/M Component:
• MM
• WM
• MGUS
• MGCS
• MGRS
• Splenic Marginal Zone
+Organomegaly+↑RBC ... anticoagulant • IgM ... Paraproteinemias #Hematology ... #Monoclonal #Differential ... #Diagnosis #Oncology
Hyperthermic Toxidromes
Five toxidromes may present with overlapping features: hyperthermia, rhabdomyolysis, altered mental status/seizures.
 • Sympathomimetic -
serotoninergic meds ... disease caused by genetic ... ryanodine receptor) & triggered ... Toxidromes #comparison #table ... #diagnosis #differential
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... DIFFERENTIAL DIAGNOSIS ... both diseases are triggered ... neutropenia (CyN) This genetic ... Serial CBC counts