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
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Central Retinal Vein Occlusion (CRVO): Pathogenesis and clinical findings

#CentralRetinalVein #Occlusion #CRVO #pathophysiology #ophthalmology #diagnosis #signs #symptoms
Occlusion #CRVO #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... /Symptoms: - Fever ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
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
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #pathophysiology ... #ophthalmology
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs ... Retinoblastoma #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 / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
#OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Xeropthalmia: Pathogenesis and Ocular Manifestations

Decr Visual pigment -> Keratinization, thickening & non-wetting of the conjunctiva
#Xeropthalmia #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... humoral immunity Signs ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology