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 ... #genetics #endocrinology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #PraderWilli #Syndrome ... #genetics #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Carpal Tunnel Syndrome ... diagnosis #signs #symptoms ... #endocrinology ... #pathophysiology
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Anterior Cord Syndrome ... • Central Cord Syndrome ... #diagnosis #pathophysiology ... #signs #symptoms ... #orthopedics #neurology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Keratoconus Signs / Symptoms ... #Keratoconus #pathophysiology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... Diagnosis #Signs #Symptoms