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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Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... /Complications: ... pulmonale #PraderWilli ... #Syndrome #genetics ... pathophysiology #peds #pediatrics
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 ... AlzheimersDisease #Dementia ... pathophysiology #geriatrics
Fecal Incontinence - Pathogenesis and Complications
Continence mechanisms are impaired
 • Local neuronal damage
 • External and
Pathogenesis and Complications ... irritable bowel syndrome ... (e.g. stroke, dementia ... #Incontinence #geriatrics
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