Search for congenital metabolic disorders potentially associated with sudden infant death syndrome and establishment of a genetic counseling system.
| Project/Area Number |
18K10465
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 58070:Lifelong developmental nursing-related
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| Research Institution | Oita University |
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Principal Investigator |
SHIMADA Yumi 大分大学, 医学部, 医員 (50548146)
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| Co-Investigator(Kenkyū-buntansha) |
久我 修二 大分大学, 医学部, 客員研究員 (20773815)
井原 健二 大分大学, 医学部, 教授 (80294932)
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| Project Period (FY) |
2018-04-01 – 2023-03-31
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| Project Status |
Completed (Fiscal Year 2022)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2020: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 新生児マススクリーニング / タンデムマス法 / 乳幼児突然死症候群 / 先天代謝異常症 / 乾燥濾紙血 / タンデムマス分析 / 遺伝カウンセリング |
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| Outline of Final Research Achievements |
Newborn screening of IEM using tandem mass spectrometry has become a public health strategy in many developed countries.Prompt and effective intervention in screening-positive patients is particularly important in cases of IEM. Retrospective analyses using stored dried blood specimens have been limited, mainly due to a lack of biochemical information on the long-term stability of acylcarnitines and amino acids in stored specimens. We studied the characteristic profiles of the stability of amino acid, free carnitine, and acylcarnitines in dried blood specimens stored in a refrigerator after newborn screening. These data suggested that a part of metabolic parameters from refrigerator-stored dried blood specimens were applicable for the detection of inborn errors of metabolism.
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| Academic Significance and Societal Importance of the Research Achievements |
タンデムマス法は、乳幼児突然死症候群の中の先天代謝異常症を同定し死因の解明に繋がる場合がある。タンデムマス法による新生児マススクリーニング導入前に乳幼児突然死症候群で死亡した症例の保存濾紙血から、後方視的に未診断の先天代謝異常症を同定することができれば、発見された先天代謝異常症の死亡症例を通してその遺族の中の潜在的なニーズを把握し、家族に対して遺伝カウンセリングを行うことで正確な情報を提供することが可能になると考えられる。
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Report
(6 results)
Research Products
(4 results)
