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 ... fractures • Short ... #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer's (99% of cases ... mutations - Down syndrome ... Signs / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... Causes: • Large ... Signs / Symptoms / Complications ... #MSK #pathophysiology ... #diagnosis #symptoms
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations

 • Immune Complex Deposition
    - Arthralgia, Arthritis
Myopathy (Also caused ... Erythematosus #SLE #MSK ... Musculoskeletal #Complications ... #pathophysiology ... signs #symptoms #diagnosis
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
-> Cotton-wool Spots ... -> Elschnig's Spots ... #Retinopathy #pathophysiology ... ophthalmology #diagnosis ... signs #symptoms #complications
Diabetic Retinopathy: Pathogenesis and clinical findings

Mild Non-proliferative DR
 • Outpouchings of the weakened capillary walls or
-> Cotton-wool spots ... retinal ischemia causes ... ophthalmology #diagnosis ... #complications ... #pathophysiology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... periumbilical region), nausea ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
Chronic Exertional Compartment Syndrome (CECS)
 • Diagnosis Of CECS requires patient to undergo the same exertional
Exertional Compartment Syndrome ... (CECS) • Diagnosis ... activity that causes ... CompartmentSyndrome #CECS #pathophysiology ... #symptoms #msk
Paget’s Disease: Complications
Abnormal Osteoclasts cause excessive bone turnover -> Incr bone resorption, Incr (abnormal) bone formation

MSK
Paget’s Disease: Complications ... bone formation MSK ... PagetsDisease #pathophysiology ... #diagnosis #signs ... #symptoms #complications