{"created":"2023-05-15T09:47:28.520846+00:00","id":9565,"links":{},"metadata":{"_buckets":{"deposit":"59899ea1-0eb8-4e7a-b0b3-ba780e02c607"},"_deposit":{"created_by":11,"id":"9565","owners":[11],"pid":{"revision_id":0,"type":"depid","value":"9565"},"status":"published"},"_oai":{"id":"oai:kagawa-u.repo.nii.ac.jp:00009565","sets":["13:40"]},"author_link":["3474"],"item_10006_alternative_title_1":{"attribute_name":"その他（別言語等）のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"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〜","subitem_alternative_title_language":"ja"}]},"item_10006_date_granted_11":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2022-01-19"}]},"item_10006_degree_grantor_9":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"香川大学"},{"subitem_degreegrantor_language":"en","subitem_degreegrantor_name":"Kagawa University"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"16201","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_10006_degree_name_8":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士（医学）","subitem_degreename_language":"ja"}]},"item_10006_description_7":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"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.","subitem_description_language":"en","subitem_description_type":"Abstract"},{"subitem_description":"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.","subitem_description_language":"en","subitem_description_type":"Abstract"},{"subitem_description":"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.","subitem_description_language":"en","subitem_description_type":"Abstract"},{"subitem_description":"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.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10006_dissertation_number_12":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"乙第296号"}]},"item_10006_relation_15":{"attribute_name":"関連サイト","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.5551/jat.62780","subitem_relation_type_select":"DOI"}}]},"item_10006_relation_22":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"34176852","subitem_relation_type_select":"PMID"}}]},"item_10006_relation_28":{"attribute_name":"論文ID（NAID）","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"130008057433","subitem_relation_type_select":"NAID"}}]},"item_10006_rights_13":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright ©2021 Japan Atherosclerosis Society","subitem_rights_language":"en"},{"subitem_rights":"This article is distributed under the terms of the latest version of CC BY-NC-SA defined by the Creative Commons Attribution License.","subitem_rights_language":"en"}]},"item_10006_version_type_18":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_fa2ee174bc00049f","subitem_version_type":"P"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"松永, 圭司","creatorNameLang":"ja"},{"creatorName":"マツナガ, ケイジ","creatorNameLang":"ja-Kana"},{"creatorName":"Matsunaga, Keiji","creatorNameLang":"en"}],"nameIdentifiers":[{},{},{},{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2022-04-26"}],"displaytype":"detail","filename":"Med_B296.pdf","filesize":[{"value":"661.2 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"本文","objectType":"fulltext","url":"https://kagawa-u.repo.nii.ac.jp/record/9565/files/Med_B296.pdf"},"version_id":"6ba9eb91-0180-4161-8198-1862b3987434"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2022-04-26"}],"displaytype":"detail","filename":"Med_B296_abstract.pdf","filesize":[{"value":"87.7 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"内容の要旨","objectType":"abstract","url":"https://kagawa-u.repo.nii.ac.jp/record/9565/files/Med_B296_abstract.pdf"},"version_id":"510a9323-d914-4e6f-8b72-00cf8ae66369"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2022-04-26"}],"displaytype":"detail","filename":"Med_B296_result.pdf","filesize":[{"value":"104.7 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"審査の結果の要旨","objectType":"other","url":"https://kagawa-u.repo.nii.ac.jp/record/9565/files/Med_B296_result.pdf"},"version_id":"fbd181c1-0afd-469a-b46f-c5bc124bca3c"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Children","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Familial hypercholesterolemia","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Genetic testing","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Low-density lipoprotein cholesterol","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"doctoral thesis","resourceuri":"http://purl.org/coar/resource_type/c_db06"}]},"item_title":"Universal screening for familial hypercholesterolemia in children in Kagawa, Japan","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Universal screening for familial hypercholesterolemia in children in Kagawa, Japan","subitem_title_language":"en"}]},"item_type_id":"10006","owner":"11","path":["40"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2022-04-26"},"publish_date":"2022-04-26","publish_status":"0","recid":"9565","relation_version_is_last":true,"title":["Universal screening for familial hypercholesterolemia in children in Kagawa, Japan"],"weko_creator_id":"11","weko_shared_id":-1},"updated":"2023-10-16T02:32:06.383839+00:00"}