{"created":"2023-06-20T15:49:06.804836+00:00","id":3668,"links":{},"metadata":{"_buckets":{"deposit":"bd95ca5b-dd09-45dd-9752-a95a9f9145ed"},"_deposit":{"created_by":4,"id":"3668","owners":[4],"pid":{"revision_id":0,"type":"depid","value":"3668"},"status":"published"},"_oai":{"id":"oai:hama-med.repo.nii.ac.jp:00003668","sets":["1:75:76"]},"author_link":["10841","10842","10843","10844"],"item_3_biblio_info_5":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2021-03-15","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"41","bibliographicPageStart":"36","bibliographicVolumeNumber":"1","bibliographic_titles":[{"bibliographic_title":"浜松医科大学小児科学雑誌","bibliographic_titleLang":"ja"},{"bibliographic_title":"Hamamatsu Journal of Pediatrics","bibliographic_titleLang":"en"}]}]},"item_3_description_9":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"肺動脈性肺高血圧症(PAH)は進行性の肺動脈圧上昇をもたらす疾患であり、先天性心疾患に合併する場合は高肺血流を伴っていることや染色体異常を合併していることが多い。今回我々は小短絡の筋性部心室中隔欠損症で経過観察中の女児に肺高血圧症を合併し、全エクソーム解析を行った結果、SOX17遺伝子変異を同定し遺伝性肺高血圧症と診断した症例を経験した。先天性心疾患を合併するものの左右短絡では説明のできないPAHを認めた症例では、診断および予後の推定に遺伝子解析が有用となる場合があることが示された。","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_3_publisher_6":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"浜松医科大学小児科学雑誌編集部","subitem_publisher_language":"ja"}]},"item_3_relation_27":{"attribute_name":"医中誌論文ID","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"2021237782","subitem_relation_type_select":"ICHUSHI"}}]},"item_3_source_id_20":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"2436-2433","subitem_source_identifier_type":"EISSN"}]},"item_3_version_type_32":{"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":"中村, 由梨","creatorNameLang":"ja"},{"creatorName":"NAKAMURA, Yuri","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"10841","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"内山, 弘基","creatorNameLang":"ja"},{"creatorName":"UCHIYAMA, Hiroki","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"10842","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"増永, 陽平","creatorNameLang":"ja"},{"creatorName":"MASUNAGA, Yohei","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"10843","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"石川, 貴充","creatorNameLang":"ja"},{"creatorName":"ISHIKAWA, Takamichi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"10844","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":"2021-03-15"}],"displaytype":"detail","filename":"hjop_1_1_36.pdf","filesize":[{"value":"520.2 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"hjop_1_1_36","objectType":"fulltext","url":"https://hama-med.repo.nii.ac.jp/record/3668/files/hjop_1_1_36.pdf"},"version_id":"491a1706-5301-453c-ae6c-4d4776003eae"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"心室中隔欠損症","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝性肺動脈性肺高血圧症","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"SOX17遺伝子変異","subitem_subject_language":"ja","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"SOX17遺伝子変異による遺伝性肺動脈性肺高血圧症を発症したKlippel-Feil症候群の1例","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"SOX17遺伝子変異による遺伝性肺動脈性肺高血圧症を発症したKlippel-Feil症候群の1例","subitem_title_language":"ja"},{"subitem_title":"A Case of SOX17-Related Heritable Pulmonary Arterial Hypertension with Klippel-Feil Syndrome","subitem_title_language":"en"}]},"item_type_id":"3","owner":"4","path":["76"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2021-03-15"},"publish_date":"2021-03-15","publish_status":"0","recid":"3668","relation_version_is_last":true,"title":["SOX17遺伝子変異による遺伝性肺動脈性肺高血圧症を発症したKlippel-Feil症候群の1例"],"weko_creator_id":"4","weko_shared_id":-1},"updated":"2024-03-22T03:01:27.124438+00:00"}