{"created":"2023-05-15T16:50:06.909772+00:00","id":27841,"links":{},"metadata":{"_buckets":{"deposit":"d57382cf-6e07-4548-b83d-5b9d488c6752"},"_deposit":{"created_by":6,"id":"27841","owners":[6],"pid":{"revision_id":0,"type":"depid","value":"27841"},"status":"published"},"_oai":{"id":"oai:nagasaki-u.repo.nii.ac.jp:00027841","sets":["8:9"]},"author_link":["124014","124028","124018","124016","124017","124024","124020","124021","124027","124023","124013","124015","124026","124012","124025","124019","124022"],"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2022-12-31","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageStart":"317","bibliographicVolumeNumber":"12","bibliographic_titles":[{"bibliographic_title":"Journal of Clinical Medicine"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Primary ciliary dyskinesia (PCD) is a genetic and congenital disease associated with an abnormal ciliary ultrastructure and function and is estimated to affect 1 in 15,000–20,000 individuals. A PCD diagnosis can be achieved by genotyping. Here, we performed whole-exome analysis for the diagnosis of PCD and described the detailed clinical characteristics of the case. A 39-year-old Japanese woman with sinusitis and bronchiectasis without situs inversus had had upper and lower respiratory symptoms since childhood and had received long-term macrolide therapy without an accurate diagnosis. A moderate deterioration of cilia function was observed by high-speed video microscopy analysis; additionally, the number of cells with moving cilia was fewer than that in patients without PCD. Electron microscopy revealed no apparent structural abnormalities. We performed\nwhole-exome analysis and identified novel biallelic variants of SPEF2 in the homozygous state (c.1860_1861insCT).We confirmed the absence of SPEF2 protein expression in the cilia of the nasal mucosa using fluorescent immunostaining. Accordingly, she was diagnosed as having PCD with the SPEF2 variant. The present case suggests that the deterioration of cilia function is moderate, the number of respiratory cells with moving cilia might be reduced, and the respiratory condition could be severe in patients with PCD with the SPEF2 variant.","subitem_description_type":"Abstract"}]},"item_2_description_63":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"Journal of Clinical Medicine, 12(1), art. no. 317; 2022　","subitem_description_type":"Other"}]},"item_2_publisher_33":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"MDPI"}]},"item_2_relation_12":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.3390/jcm12010317","subitem_relation_type_select":"DOI"}}]},"item_2_rights_13":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/)."}]},"item_2_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"2077-0383","subitem_source_identifier_type":"ISSN"}]},"item_2_version_type_16":{"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_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Mori, Mayako"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kido, Takashi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sakamoto, Noriho"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ozasa, Mutsumi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kido, Kumiko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Noguchi, Yasuko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tokito, Takatomo"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Okuno, Daisuke"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yura, Hirokazu"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Hara, Atsuko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ishimoto, Hiroshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Suematsu, Takashi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Obase, Yasushi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tanaka, Yoshimasa"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Izumikawa, Koichi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takeuchi, Kazuhiko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Mukae, Hiroshi"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2023-01-19"}],"displaytype":"detail","filename":"JCM12_317.pdf","filesize":[{"value":"4.3 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"JCM12_317.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/27841/files/JCM12_317.pdf"},"version_id":"4e12adef-4e20-4d85-a07c-23040c66faec"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"ciliary beat frequency","subitem_subject_scheme":"Other"},{"subitem_subject":"ciliary beat amplitude","subitem_subject_scheme":"Other"},{"subitem_subject":"high-speed video microscopy analysis","subitem_subject_scheme":"Other"},{"subitem_subject":"primary ciliary dyskinesia","subitem_subject_scheme":"Other"},{"subitem_subject":"SPEF2","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review"}]},"item_type_id":"2","owner":"6","path":["9"],"pubdate":{"attribute_name":"公開日","attribute_value":"2023-01-19"},"publish_date":"2023-01-19","publish_status":"0","recid":"27841","relation_version_is_last":true,"title":["Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review"],"weko_creator_id":"6","weko_shared_id":-1},"updated":"2023-05-15T18:16:29.963089+00:00"}