5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... heart (2-5%), liver ... (pain/abnormal ... #Signs #Symptoms
Pemberton’s Sign in a Patient with a Goiter- Physical examination revealed an enlarged thyroid with no
Pemberton’s Sign ... was 0.2 mIU per liter ... thyroxine was normal ... superior vena cava syndrome ... #clinical #photo
Terry's Nails

Patient of about 70 years, HIV positive, transplanted kidney donor cadaver in the previous 6
in addition to signs ... studied) with liver ... explained by an abnormal ... #PhysicalExam #Clinical ... #Photo
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... Clinical Presentation ... • Common Signs ... - Elevated liver ... Pathophysiology