The Calgary Guide to Understanding Disease @TheCalgaryGuide
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pathophysiology pediatrics 21hydroxylasedeficiency aids diagnosis endocrinology keratoconus ocular praderwilli retinoblastoma signs syndrome
Acquired Immunodeficiency Syndrome (AIDS): Summary of Causes and Ocular Manifestations • Molluscum lesions • Eyelid Kaposi
ophthalmicus • Cellulitis ... retinitis • HIV ... #AIDS #Ocular #Complications ... #ophthalmology ... #HIV
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
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... /Complications: ... PraderWilli #Syndrome #genetics ... pathophysiology #peds
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
'second hit' -> ... Retinoblastoma Signs / Symptoms ... / Complications ... pathophysiology #ophthalmology ... diagnosis #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Keratoconus Signs / Symptoms ... / Complications ... pathophysiology #ophthalmology
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