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 21hydroxylasedeficiency 21ohd endocrinology glaucoma keratoconus openangle praderwilli prematurity retinopathy secondary syndrome
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
#21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... #Keratoconus #pathophysiology ... #ophthalmology
Retinopathy of Prematurity: Pathogenesis and clinical findings Increased metabolic demand of growing eye -> Excessive VEGF production ->
#Prematurity #peds ... #pediatrics #pathophysiology ... #ophthalmology
Primary Open-Angle Glaucoma: Pathogenesis and Clinical Findings • Risk factors -> Incr IOP, Incr age, African-American
vascular disease • Genetic ... OpenAngle #Glaucoma #pathophysiology ... #ophthalmology
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