{"created":"2023-06-19T11:20:32.539130+00:00","id":585,"links":{},"metadata":{"_buckets":{"deposit":"46cb3b33-53bf-42ca-bdb8-b130acae8455"},"_deposit":{"created_by":3,"id":"585","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"585"},"status":"published"},"_oai":{"id":"oai:asahikawa-med.repo.nii.ac.jp:00000585","sets":["7","7:23"]},"author_link":["1214","1215","1216","1217","1218","1219"],"item_5_biblio_info_21":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2004-01-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"増刊","bibliographicPageEnd":"143","bibliographicPageStart":"140","bibliographicVolumeNumber":"52","bibliographic_titles":[{"bibliographic_title":"ホルモンと臨床"}]}]},"item_5_description_33":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"1歳7ヵ月女児.生後2?3ヵ月頃までは,啼泣などの胸腔内圧上昇時に著明なチアノーゼを呈し,用手換気を必要とした.気管支鏡検査を施行したところ,啼泣時に気管および気管支の扁平化,狭小化を認めた.気管支造影検査でも同様の所見であった.成長とともに用手換気の回数は減少し,生後7ヵ月で人工呼吸器を離脱したが,その後も啼泣時に回復困難なチアノーゼを認めることがあり,緊急時への対応のため,1歳時に気管切開術を施行した.微量酸素送与のみで呼吸状態は安定したため,1歳5ヵ月時に退院し外来で経過観察中である.SOX9遺伝子の解析を行った結果,新規変異(887 ins C/296 ins C)を同定した.この変異によりSOX9蛋白のTA domainがすべて異常蛋白に変異すると予想され,このためSOX9蛋白の転写活性因子としての機能が失われ,本症を発症したと考えられた.本症例は長期生存例になる可能性がある","subitem_description_language":"ja","subitem_description_type":"Abstract"}]},"item_5_description_36":{"attribute_name":"注記","attribute_value_mlt":[{"subitem_description":"著者版","subitem_description_type":"Other"}]},"item_5_description_37":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_description":"text","subitem_description_type":"Other"}]},"item_5_description_41":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_5_source_id_22":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0045-7167","subitem_source_identifier_type":"PISSN"}]},"item_5_text_44":{"attribute_name":"ID(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"2005166448"}]},"item_5_text_54":{"attribute_name":"閲覧数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"2780"}]},"item_5_text_55":{"attribute_name":"ダウンロード数(XooNIps)","attribute_value_mlt":[{"subitem_text_value":"1857"}]},"item_5_text_7":{"attribute_name":"著者 ローマ字","attribute_value_mlt":[{"subitem_text_value":"Okamoto, Toshio"},{"subitem_text_language":"en","subitem_text_value":"Nagaya, Ken"},{"subitem_text_language":"en","subitem_text_value":"Takedazu, Genya"},{"subitem_text_language":"en","subitem_text_value":"Hayashi, Tokitsugi"},{"subitem_text_language":"en","subitem_text_value":"Mukai, Tokuo"},{"subitem_text_language":"en","subitem_text_value":"Fujieda, Kenji"},{"subitem_text_language":"en"}]},"item_5_version_type_38":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"岡本, 年男","creatorNameLang":"ja"},{"creatorName":"オカモト, トシオ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"1214","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"長屋, 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