The Calgary Guide to Understanding Disease @TheCalgaryGuide
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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 ... /Complications: ... #genetics #pathophysiology
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
- Budd Chiari Syndrome ... Gastrointestinal #Complications ... pathophysiology #signs #symptoms
Femoral Head Fracture: Pathogenesis and clinical findings
 • Posterior hip dislocation -> Impaction force from femoral
lateral hip Signs/Symptoms ... /Complications: ... pathophysiology #signs #symptoms ... #orthopedics
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Anterior Cord Syndrome ... • Central Cord Syndrome ... Posterior Cord Syndrome ... pathophysiology #signs #symptoms ... #msk #orthopedics
Achilles Tendon Rupture - Pathogenesis and clinical findings
 • The Achilles tendon is 15cm long in
etiology Signs/Symptoms ... /Complications: ... diagnosis #signs #symptoms ... pathophysiology #msk #orthopedics
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 ... / Complications
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... spine Signs / Symptoms ... / Complications ... #CaudaEquina #Syndrome ... pathophysiology #diagnosis #symptoms
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 ... / Complications ... diagnosis #signs #symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... pathophysiology #genetics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

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