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 ... #genetics #pathophysiology ... #peds #pediatrics
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 #pathophysiology ... #ophthalmology
Cubital Tunnel Syndrome: Pathogenesis and clinical findings

 • Paresthesia of 5th and medial half of 4th
Cubital Tunnel Syndrome ... test • + Tinel sign ... CubitalTunnel #Syndrome ... #Diagnosis #pathophysiology ... #signs #symptoms
Central Retinal Vein Occlusion (CRVO): Pathogenesis and clinical findings

#CentralRetinalVein #Occlusion #CRVO #pathophysiology #ophthalmology #diagnosis #signs #symptoms
Occlusion #CRVO #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
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
Selective Serotonin Reuptake Inhibitors: Mechanisms and Side Effects
 • Serotonin Syndrome:
   - Autonomic Hyperactivity:
• Serotonin Syndrome ... SSRI Withdrawal Syndrome ... Serotonin #Inhibitors #Pathophysiology ... Psychiatry #Diagnosis #Signs
Patellofemoral Syndrome - Pathogenesis and clinical findings
 • Anterior Knee Pain with possible symptoms of 'catching'
Patellofemoral Syndrome ... Patellofemoral #Syndrome ... #pathophysiology ... #diagnosis #signs
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
- Budd Chiari Syndrome ... Complications #pathophysiology ... #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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics