{"created":"2023-07-25T10:22:48.633278+00:00","id":2300,"links":{},"metadata":{"_buckets":{"deposit":"48cc77fb-1b1e-4a78-8633-42352d8bd061"},"_deposit":{"created_by":3,"id":"2300","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"2300"},"status":"published"},"_oai":{"id":"oai:air.repo.nii.ac.jp:00002300","sets":["611:968:969:970"]},"author_link":["8640","8639"],"item_10006_alternative_title_32":{"attribute_name":"別タイトル","attribute_value_mlt":[{"subitem_alternative_title":"Identification of novel genetic mutations in Japanese patients with severe congenital hypothyroidism"}]},"item_10006_biblio_info_34":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2014-06-01","bibliographicIssueDateType":"Issued"},"bibliographic_titles":[{}]}]},"item_10006_date_granted_41":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2013-09-25"}]},"item_10006_degree_grantor_40":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_name":"秋田大学"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"11401","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_10006_degree_name_39":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士（医学）"}]},"item_10006_description_27":{"attribute_name":"内容記述（抄録）","attribute_value_mlt":[{"subitem_description":"Objective: The prevalence of genetic mutations in congenital hypothyroidism (CH) remains undetermined. The objective of this study was to determine the prevalence of mutations in DUOX2, TSHR, TG, PAX8, and TPO among severe permanent primary CH. Methods: Between April 1999 and March 2011, 114,733 newborns were screened for CH in Akita Prefecture, Japan. Among them, 330 were suspected of having CH and were referred to pediatricians. We recruited 40 patients who were referred to our institute. Among them, we identified 9 permanent primary CH patients who were severel y affected with an initial TSH .20 mU/l upon newborn screening and performed direct sequencing of the 5 candidate genes. Results: 3 of 9 patients (33%) had mutations in PAX8, TPO, and TSHR. Among the severely affected subjects, 60% had thyroid dysgenesis (TD), while for patients with initial TSH upon screening <20 mU/l only 12% had TD. Conclusions: Despite the high frequency of TD, the detection rate of mutations among severe permanent primary CH was higher than expected. This study suggests that the genetic analysis of 5 genes, namely, DUOX2, TSHR, TG, PAX8, and TPO, is useful for the diagnosis of CH, and that the actual prevalence of genetic mutations among CH might be higher than as previously estimated.","subitem_description_type":"Other"}]},"item_10006_dissertation_number_42":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲第1062号"}]},"item_10006_relation_30":{"attribute_name":"関連リンク","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"http://hdl.handle.net/10295/2337"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"http://hdl.handle.net/10295/2337","subitem_relation_type_select":"HDL"}}]},"item_10006_text_36":{"attribute_name":"備考","attribute_value_mlt":[{"subitem_text_value":"秋田大学審査学位論文（秋田医学,40(2),p71-p78掲載論文の著者最終稿）"}]},"item_10006_version_type_35":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"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":"安達, 裕行"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Adachi, Hiroyuki","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":"2017-02-16"}],"displaytype":"detail","filename":"ihakukou1062.pdf","filesize":[{"value":"669.7 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"本文","url":"https://air.repo.nii.ac.jp/record/2300/files/ihakukou1062.pdf"},"version_id":"dd4633a7-5df1-4f71-b8c5-98aa472a95a4"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"congenital hypothyroidism","subitem_subject_scheme":"Other"},{"subitem_subject":"genes","subitem_subject_scheme":"Other"},{"subitem_subject":"mutation","subitem_subject_scheme":"Other"},{"subitem_subject":"prevalence","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":"日本人重症先天性甲状腺機能低下症患者における新規遺伝子異変の同定","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"日本人重症先天性甲状腺機能低下症患者における新規遺伝子異変の同定"}]},"item_type_id":"10006","owner":"3","path":["970"],"pubdate":{"attribute_name":"公開日","attribute_value":"2014-06-24"},"publish_date":"2014-06-24","publish_status":"0","recid":"2300","relation_version_is_last":true,"title":["日本人重症先天性甲状腺機能低下症患者における新規遺伝子異変の同定"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-07-25T11:32:58.533683+00:00"}