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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pediatrics peds 21hydroxylasedeficiency alzheimersdisease dementia diagnosis endocrinology fecal incontinence keratoconus ophthalmology praderwilli signs stool 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/Complications ... #genetics #pathophysiology ... #peds #pediatrics
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
Fecal Incontinence - Pathogenesis and Complications Continence mechanisms are impaired • Local neuronal damage • External and
Pathogenesis and Complications ... irritable bowel syndrome ... #Incontinence #geriatrics ... #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... Signs / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Signs / Symptoms / Complications ... #Keratoconus #pathophysiology
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