The Calgary Guide to Understanding Disease @TheCalgaryGuide
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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 ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
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 ... #Pathophysiology ... #Diagnosis #Signs
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 ... Geriatrics #Falls #pathophysiology ... #complications
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations

 • Immune Complex Deposition
    - Arthralgia, Arthritis
- Arthralgia, Arthritis ... Musculoskeletal #Complications ... #pathophysiology ... #signs #symptoms
Femoral Head Fracture: Pathogenesis and clinical findings
 • Posterior hip dislocation -> Impaction force from femoral
onto lateral hip Signs ... /Symptoms/Complications ... weight-bear • Arthritic ... msk #diagnosis #pathophysiology ... #signs #symptoms
Complications of Measles: Pathogenesis and Clinical Findings
 • ADEM -> Fever, headache, neck stiffness, BBD, mental
Complications of ... infections #Measles #Complications ... #diagnosis #signs ... #symptoms #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
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
Gastrointestinal #Complications ... #pathophysiology ... #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... > Keratoconus Signs ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #pathophysiology