6 results
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
Systemic Lupus Erythematosus ... - Budd Chiari Syndrome ... Gastrointestinal #Complications ... #pathophysiology ... #signs #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... #genetics #pathophysiology ... #peds #pediatrics
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
Other brainstem syndromes ... pain • Extra-CNS complications ... disorders (Systemic lupus ... Manifestations #diagnosis #neurology ... #symptoms #signs
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Keratoconus Signs / Symptoms ... / Complications ... #Keratoconus #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Encephalopathy Syndrome ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs ... diagnosis #management #neurology