4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... /Complications: ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
Pancreatitis - Elevated Liver ... - Budd Chiari Syndrome ... Gastrointestinal #Complications ... #pathophysiology ... #signs #symptoms
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
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 ... endocrinology #peds #pediatrics