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 ... Signs/Symptoms ... /Complications: ... pathophysiology #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 / Complications ... #diagnosis #signs ... #symptoms
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... Causes: • Large ... / Symptoms / Complications ... #MSK #pathophysiology ... #signs
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations

 • Immune Complex Deposition
    - Arthralgia, Arthritis
Myopathy (Also caused ... Erythematosus #SLE #MSK ... Musculoskeletal #Complications ... pathophysiology #signs ... #symptoms #diagnosis
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... / Symptoms / Complications ... • Rizutti's Sign ... pathophysiology #ophthalmology
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 ... endocrinology #peds ... #pediatrics
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
resolve by 72 hours Complications ... pathophysiology #diagnosis #symptoms ... #signs #peds #pediatrics
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
hyalinization causes ... BRB breakdown causes ... pathophysiology #ophthalmology ... #diagnosis #signs ... #symptoms #complications
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings
OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
• Significant cause ... most frequent cause ... damage & blindness Signs ... / Symptoms / Complications ... pathophysiology #ophthalmology
Chronic Exertional Compartment Syndrome (CECS)
 • Diagnosis Of CECS requires patient to undergo the same exertional
Exertional Compartment Syndrome ... activity that causes ... pathophysiology #diagnosis #signs ... #symptoms #msk