9 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... #IEM #NICU #InbornErrors
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 ... #NICU #Genetics ... #IEM #Laboratory
Congestive Heart Failure - Causes, Pathophysiology and Differential Diagnosis
 • Dilated Cardiomyopathy 
 • Hypertrophic Cardiomyopathy
, Pathophysiology ... and Differential ... Infiltrative • Genetic ... #Pathophysiology ... Diagnosis #cardiology
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... diagnosis #management #cardiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
immunodeficiency may appear 3-9 ... Genetic Predisposition ... to produce all classes ... IgA, IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
• Female:Male 9: ... 65 years PBC Pathophysiology ... intralobular bile ducts causes ... up to 70% • IgM ... bile ducts Differential
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Differential Diagnosis ... Genetic predisposition ... early post-partum 9. ... diagnosis #management #cardiology
Fetal and Post Transition Circulation

In the fetal circulatory system, oxygenated blood is delivered via the umbilical
oxygenated blood passes ... #Circulation #Pathophysiology ... #Cardiology #Anatomy ... #Peds #Pediatrics