The Calgary Guide to Understanding Disease @TheCalgaryGuide
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Account created for The Calgary Guide to Understanding Disease - Linking pathophysiology to clinical presentation - http://calgaryguide.ucalgary.ca/
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Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... / Complications ... AlzheimersDisease #Dementia ... #pathophysiology ... 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 ... #21HydroxylaseDeficiency #21OHD ... #pathophysiology ... #genetics #endocrinology
Fecal Incontinence - Pathogenesis and Complications
Continence mechanisms are impaired
 • Local neuronal damage
 • External and
Pathogenesis and Complications ... irritable bowel syndrome ... (e.g. stroke, dementia ... Incontinence #geriatrics #pathophysiology
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
- Budd Chiari Syndrome ... Gastrointestinal #Complications ... #pathophysiology ... #signs #symptoms
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
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs / Symptoms ... / Complications ... Retinoblastoma #pathophysiology ... #ophthalmology ... diagnosis #signs #symptoms
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... spine Signs / Symptoms ... / Complications ... #MSK #pathophysiology ... #diagnosis #symptoms
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Carpal Tunnel Syndrome ... diagnosis #signs #symptoms ... #endocrinology ... #pathophysiology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Ehlers-Danlos syndrome ... Keratoconus Signs / Symptoms ... / Complications ... #Keratoconus #pathophysiology ... #ophthalmology
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Signs / Symptoms ... / Complications ... #SideEffects #endocrinology ... mnemonic #GLFTAP #pathophysiology