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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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 ... #Symptoms #Vasculitis
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... and ankles) #HSP ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
the pancreas, Vasculitis ... - Budd Chiari Syndrome ... Complications #pathophysiology ... #signs #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #PraderWilli #Syndrome ... #genetics #pathophysiology
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
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology ... #immunology
Rheumatoid arthritis (RA): Extra-articular manifestations
Skin: 
 • Inflammation of skin (esp. over areas of stress) forms
Inflammation of skin (esp ... blood vessels (vasculitis ... blood to limbs (esp ... RheumatoidArthritis #RA #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
Dermatomyositis (DM) and Polymyositis (PM): Pathogenesis and clinical findings
Elevated Antinuclear Antibodies: Anti-Jo-1, Anti-OJ, Anti-Mi2, Anti-SRP, Anti-EJ,
primarily deltoids and hip ... PM #Diagnosis #Pathophysiology ... #Signs #Symptoms ... #Vasculitis