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
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... Obesity -> Type 2 diabetes ... 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 ... a scrotum #21HydroxylaseDeficiency ... pathophysiology #genetics #endocrinology ... #peds #pediatrics
Fecal Incontinence - Pathogenesis and Complications
Continence mechanisms are impaired
 • Local neuronal damage
 • External and
irritable bowel syndrome ... Diabetes) • Altered ... #Incontinence #geriatrics
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
Diabetic Ketoacidosis ... Signs/Symptoms/Complications ... pathophysiology #endocrinology ... #diabetes
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... pathophysiology #geriatrics ... #diagnosis #signs
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Signs / Symptoms ... Hyperprolactinemia • Diabetes ... #SideEffects #endocrinology