The Calgary Guide to Understanding Disease @TheCalgaryGuide
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21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
congenital adrenal hyperplasia ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD ... pathophysiology #genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... Complications: • Gonadal hypoplasia ... PraderWilli #Syndrome #genetics
Graves’ Disease: Pathogenesis and Clinical Findings
B & T lymphocyte mediated autoimmunity attack TSH receptor -> Continuous
Thyroid gland hyperplasia ... etiology Signs/Symptoms ... endocrinology #symptoms ... #signs #diagnosis
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... old; F>M Signs/Symptoms ... Pathophysiology #Diagnosis ... #Signs #Symptoms
Obsessive-Compulsive Disorder (OCD): Pathogenesis and clinical findings

Psychological Hypothesis
 • Cognitive behavioral model: Emotional disturbance arising from
regions suspected Genetics ... PersonalityDisorder #Diagnosis ... Psychiatry #Signs #Symptoms
Benign Prostatic Hyperplasia: Pathogenesis and Clinical Findings

Hormonal alterations (result of aging process)
    ->
Benign Prostatic Hyperplasia ... Benign #Prostatic #Hyperplasia ... Pathophysiology #Urology ... #Signs #Symptoms ... #Diagnosis
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... Pathophysiology #Diagnosis ... #Signs #Symptoms
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
40% of patients diagnosed ... Genetic Predisposition ... immunity Signs/Symptoms
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
Injury #Syndromes #diagnosis ... pathophysiology #signs #symptoms ... #orthopedics #neurology
Mixed Urinary Incontinence: Pathogenesis and Clinical Findings

Urgency Urinary Incontinence (UUI) -> Urinary leakage preceded by a
Pathophysiology #Signs #Symptoms ... #Urology #Diagnosis