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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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
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... / Symptoms / Complications ... #Keratoconus #pathophysiology
Systemic Lupus Erythematosus: Gastrointestinal Manifestations
 - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
- Budd Chiari Syndrome ... Gastrointestinal #Complications ... #pathophysiology ... #signs #symptoms
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 ... AlzheimersDisease #Dementia #pathophysiology ... geriatrics #diagnosis #signs
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... lumbar spine Signs ... / Symptoms / Complications ... #CaudaEquina #Syndrome ... #MSK #pathophysiology
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
Bulimia Nervosa: Signs and Symptoms
Associated Psychological / Behavioural Features
 • Feelings of shame, guilt and embarrassment
Bulimia Nervosa: Signs ... Symptoms related to complications ... inducing vomiting #BulimiaNervosa ... #pathophysiology ... #diagnosis #signs
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
Bulimia Nervosa: Complications ... • Boerhaave syndrome ... Cardiac Arrest #BulimiaNervosa ... #pathophysiology ... #diagnosis #signs
Bulimia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: Some
Gender: F > M • Genetics ... over mistakes #BulimiaNervosa ... #pathophysiology ... #diagnosis #signs