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
Signs/Symptoms ... /Complications: ... Incr Skeletal fractures ... #genetics #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 ... #orthopedics
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
Bulimia Nervosa: Signs and Symptoms
Associated Psychological / Behavioural Features
 • Feelings of shame, guilt and embarrassment
Nervosa: Signs and Symptoms ... / Behavioural Features ... related to complications ... inducing vomiting #BulimiaNervosa ... #pathophysiology
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
Bulimia Nervosa: Complications ... • Boerhaave syndrome ... Cardiac Arrest #BulimiaNervosa ... #pathophysiology ... diagnosis #signs #symptoms