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 chondrocalcinosis glaucoma peds pseudogout 21hydroxylasedeficiency 21ohd acute agammaglobulinemia alzheimersdisease centralretinalartery closedangle crao dementia endocrinology geriatrics immunology keratoconus occlusion
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... rubbing • Atopic diseases ... • Rizutti's Sign ... #Keratoconus #pathophysiology ... #ophthalmology
Pseudogout: pathogenesis and clinical findings - Idiopathic (vast majority of cases) -> Mechanism unknown - Familial
pyrophosphate dihydrate (CPPD ... and/or x-ray - CPPD ... Chondrocalcinosis #Pseudogout #CPPD ... #Disease #Signs ... #Symptoms #Pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Alzheimer’s Disease ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #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 ... #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
epidemiology of this disease ... history of the disease ... Signs of immunodeficiency ... Genetic Predisposition ... Agammaglobulinemia #XLinked #pathophysiology
Central Retinal Artery Occlusion: Pathogenesis and clinical findings • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
• Inflammatory Disease ... • Hematologic Disease ... Occlusion #CRAO #pathophysiology ... #ophthalmology ... #diagnosis #signs
Chondrocalcinosis: Calcium Pyrophosphate Dihydrate (CPPD) Deposition Disease - Acute CPPD precipitation into the joint space ->
Pyrophosphate Dihydrate (CPPD ... ) Deposition Disease ... - Acute CPPD ... #Disease #Signs ... #Symptoms #Pathophysiology
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
• The disease ... damage & blindness Signs ... ClosedAngle #Glaucoma #pathophysiology ... #ophthalmology
Primary Open-Angle Glaucoma: Pathogenesis and Clinical Findings • Risk factors -> Incr IOP, Incr age, African-American
myopia, vascular disease ... • Genetic predisposition ... OpenAngle #Glaucoma #pathophysiology ... #ophthalmology
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