7 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... IEM #Laboratory #Patterns
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds
Patterns of Liver Injury
Transaminase Levels:
  > 50x normal - Ischemic Hepatitis
  > 20x normal
CMV), Alcoholic cirrhosis ... Hemolysis, NASH, Genetic ... / Metabolic. ... Liver #Injury #hepatology ... transaminitis #differential
Primary Biliary Cirrhosis - Pathophysiology
Environmental Risk Factors: Geographic location, Smoking, Microbial triggers, Xenobiotics, Nail polish
Epigentics Risk
Primary Biliary Cirrhosis ... Smoking, Microbial triggers ... DNA methylation Genetic ... Primary #Biliary #Cirrhosis ... #hepatology
Elevated Liver Function Tests (LFTs) - Differential Diagnosis Framework
Mild (<100-500): 
 • NAFLD
 • Cirrhosis
 •
Tests (LFTs) - Differential ... • NAFLD • Cirrhosis ... 500-1000): • Genetic ... /Metabolic Hepatopathy ... #Diagnosis #hepatology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Etiology: • Pathophysiology ... Imaging Patterns ... Reversible course Differential ... Drug toxicity, Metabolic ... Seizures: Treat with AEDs
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 ... dominant inheritance pattern