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 ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
Central Retinal Vein Occlusion (CRVO): Pathogenesis and clinical findings

#CentralRetinalVein #Occlusion #CRVO #pathophysiology #ophthalmology #diagnosis #signs #symptoms
pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms
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
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... old; F>M Signs/Symptoms ... Pathophysiology #Diagnosis ... #Signs #Symptoms
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
pathophysiology #diagnosis ... #symptoms #signs ... #peds #pediatrics
Obsessive-Compulsive Disorder (OCD): Pathogenesis and clinical findings

Psychological Hypothesis
 • Cognitive behavioral model: Emotional disturbance arising from
regions suspected Genetics ... PersonalityDisorder #Diagnosis ... Psychiatry #Signs #Symptoms
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs / Symptoms ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
chromosome 21) Signs / Symptoms ... pathophysiology #geriatrics ... #diagnosis #signs ... #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Keratoconus Signs / Symptoms ... pathophysiology #ophthalmology
Xeropthalmia: Pathogenesis and Ocular Manifestations

Decr Visual pigment -> Keratinization, thickening & non-wetting of the conjunctiva
pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms