17 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Fallot #diagnosis #management ... #cardiology #peds ... #pediatrics #treatment
Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Introduction & Pathophysiology ... Epidemiology • Clinical ... Pre-operative Management ... AorticValve #cardiology #peds ... #pediatrics
Infantile Spasms 
Associated with Tuberous Sclerosis 
1) Flexor spasms: Sudden flexion of neck, trunk, arms, and
Infantile Spasms ... of the legs Clinical ... EEG pattern Management ... #Spasms #Peds # ... Pediatrics #Diagnosis
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Erythematosus (SLE) Clinical ... Demyelinating Syndrome ... Disease, PRES Pathophysiology ... CNS #neurology #rheumatology ... cerebritis #diagnosis #management
Common Variable Immunodeficiency (CVID)

What?
CVID: Immunodeficiency disorder with hypogammaglobulinemia -> increased infection risk secondary to impaired B-cell
to 8 years Clinical ... disease • Liver ... : • Nephrotic syndrome ... (Epstein-Barr syndrome ... #diagnosis #management
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Diagnosis and Management ... GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... Beckwith Wiedemann syndrome
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
brain PRES Clinical ... PRES-Associated Clinical ... Etiology: • Pathophysiology ... Seizures: Treat with AEDs ... #diagnosis #management
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... renal failure Clinical ... heart (2-5%), liver ... Sarcoidosis #Diagnosis #Management
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... lymph node, or liver ... Lymphohistiocytosis #diagnosis #management ... #treatment #hematology