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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symptoms erythematosus genetics lupus msk psychiatry retinopathy sle systemic 21hydroxylasedeficiency 21ohd alzheimersdisease anorexianervosa bulimianervosa caudaequina chronic dementia endocrinology gastrointestinal geriatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... /Complications: ... mineral density and osteoporosis ... #genetics #pathophysiology ... #peds #pediatrics
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations • Immune Complex Deposition - Arthralgia, Arthritis
Normal CK • Osteoporosis ... Musculoskeletal #Complications ... #pathophysiology ... #signs #symptoms ... #diagnosis
Systemic Lupus Erythematosus: Gastrointestinal Manifestations - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
- Budd Chiari Syndrome ... Gastrointestinal #Complications ... #pathophysiology ... #signs #symptoms ... #diagnosis
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
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... / Symptoms / Complications ... #Keratoconus #pathophysiology ... #ophthalmology
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs ... / Symptoms / Complications ... Retinoblastoma #pathophysiology ... #ophthalmology ... #diagnosis #signs
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children) Upper Respiratory Tract Infection: - Bacterial: Streptococcus
resolve by 72 hours Complications ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Cauda Equina Syndrome Causes: • Large lumbar degenerative disc herniation (central) • Severe lumbar spondylosis • Neoplasm
Cauda Equina Syndrome ... / Symptoms / Complications ... #MSK #pathophysiology ... #diagnosis #symptoms ... #signs
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 ... endocrinology #peds ... #pediatrics
Retinopathy of Prematurity: Pathogenesis and clinical findings Increased metabolic demand of growing eye -> Excessive VEGF production ->
-> Neovascular complications ... #Prematurity #peds ... #pediatrics #pathophysiology ... #ophthalmology
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