The Calgary Guide to Understanding Disease @TheCalgaryGuide
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21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD ... pathophysiology #genetics ... endocrinology #peds #pediatrics
Childhood Immunization Schedule: Why we immunize
 • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
Tetanus Toxin -> Spores ... hemorrhagic rash; symptoms ... lymph -> Koplik's spots ... non-specific viral symptoms ... Immunization #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... fractures • Short ... PraderWilli #Syndrome #genetics ... pathophysiology #peds #pediatrics