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
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... #genetics #pathophysiology ... #peds #pediatrics
Giant Cell (Temporal) Arteritis: Clinical findings and Complications
Signs/Symptoms: 
 - Headache (usually constant, superimposed by waves
Cell (Temporal) Arteritis ... Clinical findings and Complications ... Signs/Symptoms ... #Complications ... #Signs #Symptoms
Falls: Pathogenesis and Complications
Poly-pharmacy
Disorders affecting movement and balance
 - Sensory deficits
 - Neuromuscular degeneration/Cerebrovascular disease
 -
Pathogenesis and Complications ... Parkinson's Disease - Arthritis ... Lifestyle #Geriatrics ... pathophysiology #complications
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
Cell (Temporal) Arteritis ... not proven) - Genetic ... yrs old; F>M Signs ... GiantCell #Temporal #Arteritis ... Pathophysiology #Diagnosis #Signs
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... / Symptoms / Complications ... • Rizutti's Sign
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... / Symptoms / Complications ... pathophysiology #geriatrics ... #diagnosis #signs
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
- Budd Chiari Syndrome ... Gastrointestinal #Complications ... pathophysiology #signs
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations

 • Immune Complex Deposition
    - Arthralgia, Arthritis
- Arthralgia, Arthritis ... Musculoskeletal #Complications ... pathophysiology #signs
Femoral Head Fracture: Pathogenesis and clinical findings
 • Posterior hip dislocation -> Impaction force from femoral
onto lateral hip Signs ... /Symptoms/Complications ... weight-bear • Arthritic ... pathophysiology #signs
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds #pediatrics