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: ... PraderWilli #Syndrome #genetics ... #pathophysiology
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations

 • Immune Complex Deposition
    - Arthralgia, Arthritis
Erythematosus #SLE #MSK ... Musculoskeletal #Complications ... #pathophysiology ... #signs #symptoms
Femoral Head Fracture: Pathogenesis and clinical findings
 • Posterior hip dislocation -> Impaction force from femoral
lateral hip Signs/Symptoms ... /Complications: ... FemoralHead #Fractures #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
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs / Symptoms ... / Complications ... Retinoblastoma #pathophysiology ... #ophthalmology ... diagnosis #signs #symptoms
Achilles Tendon Rupture - Pathogenesis and clinical findings
 • The Achilles tendon is 15cm long in
etiology Signs/Symptoms ... /Complications: ... diagnosis #signs #symptoms ... #pathophysiology ... #msk #orthopedics
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
spine Signs / Symptoms ... / Complications ... CaudaEquina #Syndrome #MSK ... #pathophysiology ... #diagnosis #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Keratoconus Signs / Symptoms ... / Complications ... #Keratoconus #pathophysiology ... #ophthalmology
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Signs / Symptoms ... / Complications ... #SideEffects #endocrinology ... mnemonic #GLFTAP #pathophysiology
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings
OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
lights are a key symptom ... blindness Signs / Symptoms ... / Complications ... ClosedAngle #Glaucoma #pathophysiology ... #ophthalmology