31 results
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 ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds ... Pediatrics #Table #IEM
Status Epilepticus - Management
Seizure > 5 mins or two seizures without complete recovery between them
PEDS
Benzo Dose
Status Epilepticus ... between them PEDS ... seizures #management #treatment ... #algorithm #peds ... #pediatrics #neurology
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds ... #pediatrics #treatment
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Fetal infection serology ... inborn error of metabolism ... Preimplantation genetic ... Non-invasive genetic ... gender and rhesus status
Complications of CKD
 - Patients with stages 1-3 ([GFR] >30 mL/min) of CKD are generally asymptomatic;
Patients with stages ... imbalances or endocrine/metabolic ... clinically in CKD stages ... #Pathophysiology ... #Nephrology #CKD
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
fractures • Short stature ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
PocketPEM - Inborn Errors of Metabolism #Diagnosis #Peds #EM #Genetics #Inborn #Errors #Metabolism #OTC #GAT1 #Aciduria
Inborn Errors of Metabolism ... #Diagnosis #Peds ... #EM #Genetics # ... Inborn #Errors #Metabolism
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
may precede the neurologic ... Etiology: • Pathophysiology ... Drug toxicity, Metabolic ... epilepticus Treatment ... underlying cause • Treatment
Migraine Treatment Overview

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