The Calgary Guide to Understanding Disease @TheCalgaryGuide
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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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... pathophysiology #genetics ... #endocrinology ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs / Symptoms ... / Complications ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
Chronic Hypertensive ... • Acute and chronic ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms #complications
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Keratoconus Signs / Symptoms ... / Complications ... pathophysiology #ophthalmology
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
resolve by 72 hours Complications ... pathophysiology #diagnosis ... #symptoms #signs ... #peds #pediatrics
Bulimia Nervosa: Signs and Symptoms
Associated Psychological / Behavioural Features
 • Feelings of shame, guilt and embarrassment
Nervosa: Signs and Symptoms ... gum disease from chronic ... indication of chronic ... related to complications ... pathophysiology #diagnosis
Cholesteatoma (of middle ear): Pathogenesis and clinical findings
 • Congenital trapping of keratinizing epithelium in middle
middle ear Signs / Symptoms ... / Complications ... Mastoiditis • Chronic ... #signs #diagnosis ... #complications
Alcohol Withdrawal: Clinical Findings and Complications
The onset of alcohol withdrawal generally begins 6-24 hours after the
Clinical Findings and Complications ... last drink with symptoms ... Symptoms typically ... Generalized Tonic-Clonic ... Pathophysiology #Diagnosis