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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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
Central Retinal Vein Occlusion (CRVO): Pathogenesis and clinical findings

#CentralRetinalVein #Occlusion #CRVO #pathophysiology #ophthalmology #diagnosis #signs #symptoms
Occlusion #CRVO #pathophysiology ... #ophthalmology ... #diagnosis #signs
Graves’ Disease: Pathogenesis and Clinical Findings
B & T lymphocyte mediated autoimmunity attack TSH receptor -> Continuous
the etiology Signs ... GravesDisease #pathophysiology ... #endocin #endocrinology ... #symptoms #signs
Primary Hyperthyroidism - Pathogenesis and Clinical Findings

Note: Although rare, gestational diseases can lead to thyrotoxicosis due
Signs/Symptoms: ... Hyperthyroidism #endocrinology ... #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs ... Retinoblastoma #pathophysiology ... #ophthalmology ... #diagnosis #signs
Feedback Loop: Growth Hormone (GH)
Growth Hormone:
 • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... #FeedbackLoop #endocrinology ... #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Xeropthalmia: Pathogenesis and Ocular Manifestations

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