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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signs symptoms pediatrics peds 21hydroxylasedeficiency 21ohd agammaglobulinemia alzheimersdisease dementia excess gh growthhormone henochscholeinpurpura hsp iga overproduction praderwilli vasculitis xlinked
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... #PraderWilli #Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
#21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Growth Hormone Excess - Pathogenesis and clinical findings • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Carpal Tunnel Syndrome ... Overproduction #diagnosis ... signs #symptoms #endocrinology ... #pathophysiology
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 ... Agammaglobulinemia #XLinked #pathophysiology ... #immunology
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
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