6 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... nephrotic/nephritic syndrome ... #Diagnosis #Signs ... #Symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... Ehlers-Danlos syndrome ... / Symptoms / Complications ... #Keratoconus #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... vomiting • Late (shock ... #genetics #endocrinology ... #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 ... Self-limiting, chronic but stable ... Diagnosis #Management #Signs ... #Symptoms
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
brain PRES Clinical ... Infection/Sepsis/Shock ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs