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 ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Signs / Symptoms / Complications ... Retinoblastoma #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 ... symptoms #signs #peds
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 ... endocrinology #peds
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
#Retinopathy #pathophysiology ... #ophthalmology ... 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
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings
OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
Signs / Symptoms / Complications ... ClosedAngle #Glaucoma #pathophysiology ... #ophthalmology
Retinopathy of Prematurity: Pathogenesis and clinical findings
Increased metabolic demand of growing eye
-> Excessive VEGF production ->
-> Neovascular complications ... #Prematurity #peds ... #pediatrics #pathophysiology ... #ophthalmology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Signs / Symptoms / Complications ... #Keratoconus #pathophysiology ... #ophthalmology