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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diagnosis endocrinology peds 21hydroxylasedeficiency 21ohd acute agammaglobulinemia alzheimersdisease ankylosingspondylitis centralretinalartery closedangle complications crao dementia excess geriatrics gh glaucoma growthhormone henochscholeinpurpura
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... rubbing • Atopic diseases ... / Symptoms / Complications ... #Keratoconus #pathophysiology ... #ophthalmology
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Alzheimer’s Disease ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Primary Sjogren’s Syndrome: Pathogenesis and Clinical Findings • Primary Sjögren's is a solitary process whereas secondary Sjögren's
other autoimmune diseases ... / Symptoms: - ... #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Rheumatoid arthritis (RA): Extra-articular manifestations Skin: • Inflammation of skin (esp. over areas of stress) forms
interstitial lung disease ... RheumatoidArthritis #RA #pathophysiology ... #signs #symptoms ... #diagnosis #ExtraArticular
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
Carpal Tunnel Syndrome ... Cardiovascular disease ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #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 ... #peds #pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
epidemiology of this disease ... history of the disease ... Genetic Predisposition ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Central Retinal Artery Occlusion: Pathogenesis and clinical findings • Inflammatory Disease: (i.e. GCA, SLE, GPA) ->
• Inflammatory Disease ... Occlusion #CRAO #pathophysiology ... #ophthalmology ... #diagnosis #signs ... #symptoms
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