54 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... inborn errors of metabolism ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
Metabolism of plasma ... lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #metabolism #lipoproteins ... #genetics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds ... #pediatrics #treatment
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
diagnosis #comparison #treatment ... #Peds #Endocrinology ... #Adrenal #pathophysiology
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Fetal infection serology ... inborn error of metabolism ... Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic
Status Epilepticus - Management
Seizure > 5 mins or two seizures without complete recovery between them
PEDS
Benzo Dose
between them PEDS ... seizures #management #treatment ... #algorithm #peds ... #pediatrics #neurology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Myocarditis Metabolic ... Inborn Errors of Metabolism ... Disturbances Neurologic ... Algorithm #Causes #Peds
Migraine Treatment Overview

 • What is a Migraine?
 • Pathophysiology
 • Common Migraine Triggers
 • Diagnosis
Migraine Treatment ... • Pathophysiology ... Prophylactic Treatment ... Bulbital-containing meds ... #prophylaxis #neurology