The Calgary Guide to Understanding Disease @TheCalgaryGuide
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pediatrics signs symptoms retinopathy 21hydroxylasedeficiency 21ohd chronic diabetes diabetic endocrinology hypertensive incontinence keratoconus mixed otitismedia praderwilli prematurity retinoblastoma syndrome urinary
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms/Complications ... 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
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Signs / Symptoms / Complications ... Retinoblastoma #pathophysiology ... #ophthalmology ... #diagnosis #signs
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Signs / Symptoms / Complications ... #Keratoconus #pathophysiology ... #ophthalmology
Diabetic Retinopathy: Pathogenesis and clinical findings Mild Non-proliferative DR • Outpouchings of the weakened capillary walls or
Retinopathy #Diabetes #ophthalmology ... #diagnosis #complications ... #pathophysiology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children) Upper Respiratory Tract Infection: - Bacterial: Streptococcus
resolve by 72 hours Complications ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings Ophthalmic Artery Hypertension Stage 1: Mild/vasoconstrictive • Acute and chronic vasospasm
#Retinopathy #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms #complications
Mixed Urinary Incontinence: Pathogenesis and Clinical Findings Urgency Urinary Incontinence (UUI) -> Urinary leakage preceded by a
Incr PVR if a complication ... Incontinence #Mixed #Pathophysiology ... Signs #Symptoms #Urology ... #Diagnosis
Retinopathy of Prematurity: Pathogenesis and clinical findings Increased metabolic demand of growing eye -> Excessive VEGF production ->
-> Neovascular complications ... #Prematurity #peds ... #pediatrics #pathophysiology ... #ophthalmology
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