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 ... mineral density and osteoporosis ... #genetics #pathophysiology ... #peds #pediatrics
Osteoporosis: Pathogenesis and risk factors

 • Age > 30 (post-peak bone mass)
 • Post-menopausal women ->
Osteoporosis: Pathogenesis ... Hyperthyroid #Osteoporosis ... #pathophysiology ... #signs #symptoms ... #diagnosis
Cubital Tunnel Syndrome: Pathogenesis and clinical findings

 • Paresthesia of 5th and medial half of 4th
Cubital Tunnel Syndrome ... test • + Tinel sign ... CubitalTunnel #Syndrome ... #Diagnosis #pathophysiology ... #signs #symptoms
Glucocorticoid-Induced Osteoporosis: Pathogenesis and Clinical Findings

 • Negative feedback on hypothalamus/pituitary, Decreasing ACTH -> Decr Sex
Glucocorticoid-Induced Osteoporosis ... Glucocorticoids #steroids #Osteoporosis ... #pathophysiology ... #signs #symptoms ... #diagnosis
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations

 • Immune Complex Deposition
    - Arthralgia, Arthritis
Normal CK • Osteoporosis ... Complications #pathophysiology ... #signs #symptoms ... #diagnosis
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
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... • Rizutti's Sign ... #Keratoconus #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings

Parasomnias - Micro-arousal episodes during SWS ->
Intense activation of
Pediatric Parasomnias ... Parasomnias #Nightmares #Pediatrics ... #Peds #pathophysiology ... #pharmacology #diagnosis