16 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Tetralogy #Fallot #diagnosis ... #management #cardiology ... #peds #pediatrics
Atrioventricular Septal Defect
aka AV canal defect aka endocardial cushion defect
 • Epidemiology and Associations
 • Embryology
Physical Exam • Pathophysiology ... • Long Term Follow ... endocardial #cushion #diagnosis ... #management #peds ... #pediatrics #cardiology
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... PVO Present • Diagnosis ... Classic “snowman sign ... #management #cardiology ... #peds #pediatrics
Fat Embolism Syndrome
Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
Fat Embolism Syndrome ... Trauma to the long ... Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Congenital Long QT Syndrome: Illness Script

Who?
 - Kids or young adults, usually < 30
 - high
QT Syndrome: Illness ... live births Symptoms ... arrest/death - Symptoms ... Congenital #LongQT #Syndrome ... #Diagnosis #Cardiology
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... WBC >100k, + lab signs ... : • Pathophysiology ... #TLS #diagnosis ... #management #hematology
Heart failure with Reduced Ejection Fraction (HFrEF)
Clinical Presentation
1. Typical symptoms: dyspnea, orthopnea paroxysmal noctumal dyspnea, fatigue,
Typical symptoms ... Less Typical Symptoms ... : weight gain, lung ... HFrEF may lack lung ... #management #cardiology
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Sarcoidosis - Diagnosis ... and Management ... survival is 93-95% Pathophysiology ... granulomas within the lungs ... #Management #Signs
Supracondylar Elbow Fracture
• Most common elbow fracture in children, peak age 5-7 
• When looking at
anterior sail sign ... ), compartment syndrome ... • ED Management ... Splint: Posterior long ... #XRay #Diagnosis