The Calgary Guide to Understanding Disease @TheCalgaryGuide
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diagnosis symptoms pediatrics peds temporal 21hydroxylasedeficiency 21ohd agammaglobulinemia complications cranialarteritis criteria disease erythematosus excess extraarticular gastrointestinal gh giantcell giantcellarteritis growthhormone
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
Cell (Temporal) Arteritis ... not proven) - Genetic ... yrs old; F>M Signs ... #Pathophysiology ... #Diagnosis #Signs
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... Arthralgia's (common), arthritis ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
Systemic Lupus Erythematosus: Gastrointestinal Manifestations - Thrombosis of vessels in the pancreas, Vasculitis -> Acute Pancreatitis
the pancreas, Vasculitis ... - Budd Chiari Syndrome ... 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 ... #PraderWilli #Syndrome ... #genetics #pathophysiology
Primary Sjogren’s Syndrome: Pathogenesis and Clinical Findings • Primary Sjögren's is a solitary process whereas secondary Sjögren's
Primary Sjogren’s Syndrome ... like rheumatoid arthritis ... erythematosus (SLE) Signs ... #Pathophysiology ... #Diagnosis #Signs
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... • Rizutti's Sign ... #Keratoconus #pathophysiology
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
Signs of immunodeficiency ... Genetic Predisposition ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology ... #immunology
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
Rheumatoid arthritis (RA): Extra-articular manifestations Skin: • Inflammation of skin (esp. over areas of stress) forms
Rheumatoid arthritis ... blood vessels (vasculitis ... RheumatoidArthritis #RA #pathophysiology ... #signs #symptoms
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