{"created":"2021-03-01T06:20:45.729348+00:00","id":16189,"links":{},"metadata":{"_buckets":{"deposit":"76bf5176-8599-439a-8c56-055720a044f0"},"_deposit":{"id":"16189","owners":[],"pid":{"revision_id":0,"type":"depid","value":"16189"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00016189","sets":["453:456","471:537:538:1099"]},"item_7_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"1)The Progress and Issues of Genetic Testing in Neurological Diseases"}]},"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1999-02","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"86","bibliographicPageStart":"83","bibliographicVolumeNumber":"113","bibliographic_titles":[{"bibliographic_title":"新潟医学会雑誌"},{"bibliographic_title":"新潟医学会雑誌","bibliographic_titleLang":"en"}]}]},"item_7_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"We have performed many genetic testings for 14 familial neurological diseases （ALD, FSHD, SBMA, FALS, HD, DRPLA, SCA’1, SCA 2, MJD. , SCA 6, SCA 7, FRDA, MELAS and MERRF）. The genetic testings have many advantages over other diagnostic skills in final diagnosis, carrier detection, and use of noninvasive approach. Al though the genetig testing is a very powerful skill in the diagnosis of difficult cases, it includes many issues. We cannot perfectly exclude the possibility of false positive and/ or false negative results in genetic testings. The analysis using the genomic DNA extracted from peripheral lymphocytes has diagnostic limitations in diagnosis of some diseases. In the ethical, legal, and social issues （ELSI）, they include many problems about notification of diagnosis, protection of privacy, and genetic discrimination for health insurance and/or employment. Since the genetic testing is not a panacea, we have to understand the limitation and reliabilities. Although the genetic testings have the many“ advantages and ELSI at the moment, it is important that they don’t become double-bdged swords for clients. Therefore, now we should shape a social consensus for the genetic testings.","subitem_description_type":"Abstract"}]},"item_7_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"103287","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Tanaka, Hajime"}]}]},"item_7_publisher_7":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"新潟医学会"}]},"item_7_select_19":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_7_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00182415","subitem_source_identifier_type":"NCID"}]},"item_7_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00290440","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"田中, 一"}],"nameIdentifiers":[{"nameIdentifier":"103286","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-08-07"}],"displaytype":"detail","filename":"113(2)_83-86.pdf","filesize":[{"value":"645.8 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"113(2)_83-86.pdf","url":"https://niigata-u.repo.nii.ac.jp/record/16189/files/113(2)_83-86.pdf"},"version_id":"31788d79-0796-4cf2-9e6e-093155a478b2"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"genetic testing","subitem_subject_scheme":"Other"},{"subitem_subject":"ethics","subitem_subject_scheme":"Other"},{"subitem_subject":"informed consent","subitem_subject_scheme":"Other"},{"subitem_subject":"counseling","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子診断","subitem_subject_scheme":"Other"},{"subitem_subject":"倫理","subitem_subject_scheme":"Other"},{"subitem_subject":"インフォームドコンセント","subitem_subject_scheme":"Other"},{"subitem_subject":"カウンセリング","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"1）神経内科領域における遺伝子診断の進歩とその問題（シンポジウム 遺伝子診断の最近の進歩, 第541回新潟医学会 ）","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"1）神経内科領域における遺伝子診断の進歩とその問題（シンポジウム 遺伝子診断の最近の進歩, 第541回新潟医学会 ）"},{"subitem_title":"1）神経内科領域における遺伝子診断の進歩とその問題（シンポジウム 遺伝子診断の最近の進歩, 第541回新潟医学会 ）","subitem_title_language":"en"}]},"item_type_id":"7","owner":"1","path":["456","1099"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-02-17"},"publish_date":"2017-02-17","publish_status":"0","recid":"16189","relation_version_is_last":true,"title":["1）神経内科領域における遺伝子診断の進歩とその問題（シンポジウム 遺伝子診断の最近の進歩, 第541回新潟医学会 ）"],"weko_creator_id":"1","weko_shared_id":null},"updated":"2022-12-15T03:47:46.218188+00:00"}