The Calgary Guide to Understanding Disease @TheCalgaryGuide
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Account created for The Calgary Guide to Understanding Disease - Linking pathophysiology to clinical presentation - http://calgaryguide.ucalgary.ca/
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Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... Incr Skeletal fractures ... #pathophysiology ... #peds #pediatrics
Femoral Head Fracture: Pathogenesis and clinical findings
 • Posterior hip dislocation -> Impaction force from femoral
lateral hip Signs/Symptoms ... /Complications: ... #msk #diagnosis ... #pathophysiology ... #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 ... #genetics #endocrinology ... #peds #pediatrics
Anorexia Nervosa: Complications
CARDIAC ABNORMALITIES
 - Functional: Low BP, Sinus bradycardia, prolonged QT interval
 - Structural: Reduced
Anorexia Nervosa: Complications ... increased risk of fracture ... binge-purge subtype #AnorexiaNervosa ... #pathophysiology ... diagnosis #signs #symptoms
Bulimia Nervosa: Signs and Symptoms
Associated Psychological / Behavioural Features
 • Feelings of shame, guilt and embarrassment
Nervosa: Signs and Symptoms ... / Behavioural Features ... related to complications ... Russell's Sign • Sores ... BulimiaNervosa #pathophysiology
Paget’s Disease: Complications
Abnormal Osteoclasts cause excessive bone turnover -> Incr bone resorption, Incr (abnormal) bone formation

MSK
Paget’s Disease: Complications ... bone formation MSK ... -> Pathologic fractures ... PagetsDisease #pathophysiology ... diagnosis #signs #symptoms