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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pathophysiology genetics peds 21hydroxylasedeficiency 21ohd acute alzheimersdisease dementia diagnosis geriatrics glaucoma keratoconus praderwilli signs
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... pathophysiology #peds #pediatrics
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 ... Photophobia #Acute #ClosedAngle ... pathophysiology #ophthalmology
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... / Complications ... 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 ... pathophysiology #genetics #endocrinology ... #peds #pediatrics
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Keratoconus Signs / Symptoms ... / Complications ... pathophysiology #ophthalmology
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