4 results
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
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... fractures • Short ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
-> Cotton-wool Spots ... #Retinopathy #pathophysiology ... #ophthalmology ... diagnosis #signs #symptoms ... #complications
Bulimia Nervosa: Signs and Symptoms
Associated Psychological / Behavioural Features
 • Feelings of shame, guilt and embarrassment
Nervosa: Signs and Symptoms ... related to complications ... Russell's Sign • Sores ... BulimiaNervosa #pathophysiology ... #psychiatry