| Project/Area Number |
24659503
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Fujita Health University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
KINEBUCHI Miyuki 藤田保健衛生大学, 医学部, 准教授 (30244346)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 放射光 / 銅 / 組織 / 病理診断 / 発症機序 / 遺伝子診断 / 蛍光Ｘ線 / 微量元素 |
|---|
| Research Abstract |
Wilson disease is an inherited disorder of copper overload that results in severe liver failure and neurological defects if untreated. Although effective treatments are available to prevent or reverse many manifestations, the diagnosis is often overlooked because of diverse symptoms and inevitable difficulties in laboratory tests; the failure of detecting disease-causing mutations in ATP7B genotyping and the failure or questionable biochemical tissue copper content using small needle biopsied specimens. To improve the diagnostic ability, we established a new element mapping technique by introducing a synchrotron-generated X-ray fluorescence into the pathological examination. The copper was readily detected in the tissue sections of WD livers which were negative for copper stainings. The sensitive and high-resolution copper visualization technique would provide a new tool for confirmative diagnosis and an insight into pathogenesis of tissue injury by copper.
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