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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diagnosis symptoms pediatrics peds 21hydroxylasedeficiency 21ohd acute agammaglobulinemia anaphylaxis chronic closedangle endocrinology glaucoma hypersensitivityreaction hypertensive keratoconus praderwilli retinoblastoma retinopathy syndrome
Type I Hypersensitivity: Pathogenesis and clinical findings Definition: Production of lgE Antibodies that bind to harmless allergens
leading to an allergic ... Sensitization" to Allergen ... Initial exposure to allergen ... cells recruited Complications ... #Immunology #pathophysiology
Anaphylaxis: Signs and Symptoms Anaphylaxis: when any egg of three conditions is met: 1. Acute onset of skin/mucosal
exposure to a likely allergen ... exposure to known allergen ... / Symptoms / Complications ... #Anaphylaxis #pathophysiology ... #immunology #diagnosis
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #pathophysiology ... #ophthalmology
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
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs ... / Symptoms / Complications ... Retinoblastoma #pathophysiology ... #ophthalmology ... #diagnosis #signs
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
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
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings Ophthalmic Artery Hypertension Stage 1: Mild/vasoconstrictive • Acute and chronic vasospasm
#Retinopathy #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms #complications
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
damage & blindness Signs ... / Symptoms / Complications ... ClosedAngle #Glaucoma #pathophysiology ... #ophthalmology
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