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 ... a scrotum #21HydroxylaseDeficiency ... #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Periorbital Cellulitis: Pathogenesis and Clinical Findings
Definitions:
a. Dacryoadenitis: infection of the lacrimal glands
b. Conjunctivitis: inflammation of the
Periorbital Cellulitis ... #Periorbital #Cellulitis ... #pathophysiology ... #ophthalmology ... #diagnosis #signs
Orbital Cellulitis: Pathogenesis and Clinical Findings
Definitions:
a. Chemosis: Edema of the bulbar conjunctiva
b. Panopthalmitis: inflammation of all
Orbital Cellulitis ... Blindness #Orbital #Cellulitis ... #pathophysiology ... #ophthalmology ... #diagnosis #signs
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... • Rizutti's Sign ... #Keratoconus #pathophysiology ... #ophthalmology