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 ... =>Prader-Willi Syndrome ... Signs/Symptoms ... pathophysiology #peds ... #pediatrics
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 ... endocrinology #peds ... #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs / Symptoms ... pathophysiology #geriatrics ... diagnosis #signs #symptoms
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
pathophysiology #diagnosis #symptoms ... #signs #peds #pediatrics
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Keratoconus Signs / Symptoms ... pathophysiology #ophthalmology
Childhood Immunization Schedule: Why we immunize
 • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
hemorrhagic rash; symptoms ... non-specific viral symptoms ... #Immunization #peds ... #pediatrics #pathophysiology
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings

Parasomnias - Micro-arousal episodes during SWS ->
Intense activation of
Pediatric Parasomnias ... Parasomnias #Nightmares #Pediatrics ... #Peds #pathophysiology ... #symptoms #pharmacology
Retinopathy of Prematurity: Pathogenesis and clinical findings
Increased metabolic demand of growing eye
-> Excessive VEGF production ->
#Prematurity #peds ... #pediatrics #pathophysiology ... #ophthalmology