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Universal screening for familial hypercholesterolemia in children in Kagawa, Japan
https://kagawa-u.repo.nii.ac.jp/records/9565
https://kagawa-u.repo.nii.ac.jp/records/9565cd458932-d35e-419b-bff9-379be9afff65
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
本文 (661.2 kB)
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内容の要旨 (87.7 kB)
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審査の結果の要旨 (104.7 kB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 公開日 | 2022-04-26 | |||||||||||
| タイトル | ||||||||||||
| タイトル | Universal screening for familial hypercholesterolemia in children in Kagawa, Japan | |||||||||||
| 言語 | en | |||||||||||
| 言語 | ||||||||||||
| 言語 | eng | |||||||||||
| 資源タイプ | ||||||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||||||||
| 資源タイプ | doctoral thesis | |||||||||||
| その他（別言語等）のタイトル | ||||||||||||
| その他のタイトル | 日本における小児家族性高コレステロール血症のユニバーサルスクリーニング〜香川県の取り組みから〜 | |||||||||||
| 言語 | ja | |||||||||||
| アクセス権 | ||||||||||||
| アクセス権 | open access | |||||||||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||||||||
| 著者 |
松永, 圭司
× 松永, 圭司
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| 抄録 | ||||||||||||
| 内容記述タイプ | Abstract | |||||||||||
| 内容記述 | Aim: Familial hypercholesterolemia (FH) is an underdiagnosed autosomal dominant genetic disorder characterized by high levels of plasma low-density lipoprotein cholesterol (LDL-C) from birth. This study aimed to assess the genetic identification of FH in children with high LDL-C levels who are identified in a universal pediatric FH screening in Kagawa, Japan. | |||||||||||
| 言語 | en | |||||||||||
| 抄録 | ||||||||||||
| 内容記述タイプ | Abstract | |||||||||||
| 内容記述 | Method: In 2018 and 2019, 15,665 children aged 9 or 10 years underwent the universal lipid screening as part of the annual health checkups for the prevention of lifestyle-related diseases in the Kagawa prefecture. After excluding secondary hyper-LDL cholesterolemia at the local medical institutions, 67 children with LDL-C levels of ≥ 140 mg/dL underwent genetic testing to detect FH causative mutations at four designated hospitals. | |||||||||||
| 言語 | en | |||||||||||
| 抄録 | ||||||||||||
| 内容記述タイプ | Abstract | |||||||||||
| 内容記述 | Results: The LDL-C levels of 140 and 180 mg/dL in 15,665 children corresponded to the 96.3 and 99.7 percentile values, respectively. Among 67 children who underwent genetic testing, 41 had FH causative mutations (36 in the LDL-receptor, 4 in proprotein convertase subtilisin/kexin type 9, and 1 in apolipoprotein B). The area under the curve of receiver operating characteristic curve predicting the presence of FH causative mutation by LDL-C level was 0.705, and FH causative mutations were found in all children with LDL-C levels of ≥ 250 mg/dL. | |||||||||||
| 言語 | en | |||||||||||
| 抄録 | ||||||||||||
| 内容記述タイプ | Abstract | |||||||||||
| 内容記述 | Conclusion: FH causative mutations were confirmed in almost 60% of the referred children, who were identified through the combination of the lipid universal screening as a part of the health checkup system and the exclusion of secondary hyper-LDL cholesterolemia at the local medical institutions. | |||||||||||
| 言語 | en | |||||||||||
| 学位名 | ||||||||||||
| 言語 | ja | |||||||||||
| 学位名 | 博士（医学） | |||||||||||
| 学位授与機関 | ||||||||||||
| 識別子Scheme | kakenhi | |||||||||||
| 識別子 | 16201 | |||||||||||
| 言語 | ja | |||||||||||
| 機関名 | 香川大学 | |||||||||||
| 言語 | en | |||||||||||
| 機関名 | Kagawa University | |||||||||||
| 学位授与年月日 | ||||||||||||
| 学位授与年月日 | 2022-01-19 | |||||||||||
| 学位授与番号 | ||||||||||||
| 学位授与番号 | 乙第296号 | |||||||||||
| 権利 | ||||||||||||
| 言語 | en | |||||||||||
| 権利情報 | Copyright ©2021 Japan Atherosclerosis Society | |||||||||||
| 権利 | ||||||||||||
| 言語 | en | |||||||||||
| 権利情報Resource | https://creativecommons.org/licenses/by-nc-nd/4.0/ | |||||||||||
| 権利情報 | This article is distributed under the terms of the latest version of CC BY-NC-SA defined by the Creative Commons Attribution License. | |||||||||||
| 論文ID（NAID） | ||||||||||||
| 識別子タイプ | NAID | |||||||||||
| 関連識別子 | 130008057433 | |||||||||||
| PubMed番号 | ||||||||||||
| 識別子タイプ | PMID | |||||||||||
| 関連識別子 | 34176852 | |||||||||||
| 関連サイト | ||||||||||||
| 関連タイプ | isVersionOf | |||||||||||
| 識別子タイプ | DOI | |||||||||||
| 関連識別子 | https://doi.org/10.5551/jat.62780 | |||||||||||
| 著者版フラグ | ||||||||||||
| 出版タイプ | P | |||||||||||
| 出版タイプResource | http://purl.org/coar/version/c_fa2ee174bc00049f | |||||||||||
| キーワード | ||||||||||||
| 言語 | en | |||||||||||
| 主題Scheme | Other | |||||||||||
| 主題 | Children | |||||||||||
| キーワード | ||||||||||||
| 言語 | en | |||||||||||
| 主題Scheme | Other | |||||||||||
| 主題 | Familial hypercholesterolemia | |||||||||||
| キーワード | ||||||||||||
| 言語 | en | |||||||||||
| 主題Scheme | Other | |||||||||||
| 主題 | Genetic testing | |||||||||||
| キーワード | ||||||||||||
| 言語 | en | |||||||||||
| 主題Scheme | Other | |||||||||||
| 主題 | Low-density lipoprotein cholesterol | |||||||||||
