{"created":"2023-06-20T15:49:30.650556+00:00","id":4098,"links":{},"metadata":{"_buckets":{"deposit":"4e05c6b2-6d36-49a0-931a-caa26fe82787"},"_deposit":{"created_by":4,"id":"4098","owners":[4],"pid":{"revision_id":0,"type":"depid","value":"4098"},"status":"published"},"_oai":{"id":"oai:hama-med.repo.nii.ac.jp:00004098","sets":["2:15:17"]},"author_link":["12714"],"item_5_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"左室肥大患者におけるPlasma globotriaosylsphingosineを使ったファブリー病の一次スクリーニング","subitem_alternative_title_language":"ja"}]},"item_5_biblio_info_5":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2019-08-23","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"9","bibliographicPageEnd":"1907","bibliographicPageStart":"1901","bibliographicVolumeNumber":"83","bibliographic_titles":[{"bibliographic_title":"Circulation Journal","bibliographic_titleLang":"en"}]}]},"item_5_date_granted_17":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2022-03-14"}]},"item_5_degree_grantor_15":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"浜松医科大学"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"13802","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_5_degree_name_12":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士（医学）","subitem_degreename_language":"ja"}]},"item_5_description_13":{"attribute_name":"学位の区分","attribute_value_mlt":[{"subitem_description":"doctoral","subitem_description_language":"en","subitem_description_type":"Other"}]},"item_5_description_14":{"attribute_name":"学位の分野","attribute_value_mlt":[{"subitem_description":"医学系研究科","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_5_description_9":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Background: Although previous studies have suggested a certain prevalence of Fabry disease (FD) in left ventricular hypertrophy (LVH) patients, the screening of FD is difficult because of its wide-ranging clinical phenotypes. We aimed to clarify the utility of combined measurement of plasma globotriaosylsphingosine (lyso-Gb3) concentration and α-galactosidase A activity (α-GAL) as a primary screening of FD in unexplained LVH patients.\nMethods and Results: Between 2014 and 2016, both lyso-Gb3 and α-GAL were measured in 277 consecutive patients (male 215, female 62, age 25?79 years) with left ventricular wall thickness >12 mm on echocardiogram: 5 patients (1.8%) screened positive (2 (0.7%) showed high lyso-Gb3 and 4 (1.4%) had low α-GAL levels). Finally, 2 patients (0.7%) were diagnosed with clinically significant FD. In 1 case, a female heterozygote with normal α-GAL levels had genetic variants of unknown significance and was diagnosed as FD by endomyocardial biopsy. The other case was a male chronic renal failure patient requiring hemodialysis, and he had a p.R112H mutation. In both cases there were high lyso-Gb3 levels.\nConclusions: The serum lyso-Gb3 level can be relevant for clinically significant FD, and combined measurement of lyso-Gb3 and α-GAL can provide better screening of FD in unexplained LVH patients.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_5_dissertation_number_18":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲第907号"}]},"item_5_publisher_6":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"日本循環器学会","subitem_publisher_language":"ja"},{"subitem_publisher":"The Japanese Circulation Society","subitem_publisher_language":"en"}]},"item_5_relation_26":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"31308318","subitem_relation_type_select":"PMID"}}]},"item_5_relation_27":{"attribute_name":"医中誌論文ID","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"2020109846","subitem_relation_type_select":"ICHUSHI"}}]},"item_5_relation_28":{"attribute_name":"出版社DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1253/circj.CJ-19-0110","subitem_relation_type_select":"DOI"}}]},"item_5_rights_7":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright 2019 THE JAPANESE CIRCULATION SOCIETY","subitem_rights_language":"en"},{"subitem_rights":"This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives (CC BY-NC-ND) License (https://creativecommons.org/licenses/by-nc-nd/4.0/).","subitem_rights_language":"en"}]},"item_5_source_id_19":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1346-9843","subitem_source_identifier_type":"PISSN"}]},"item_5_source_id_20":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"1347-4820","subitem_source_identifier_type":"EISSN"}]},"item_5_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":"山下, 哲史","creatorNameLang":"ja"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2022-12-01"}],"displaytype":"detail","filename":"DT_907ronbun.pdf","filesize":[{"value":"508.1 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"論文本文","objectType":"fulltext","url":"https://hama-med.repo.nii.ac.jp/record/4098/files/DT_907ronbun.pdf"},"version_id":"525686d8-2280-459d-bee6-a5ecf24b7dd8"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"α-galactosidase A","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Fabry disease","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Left ventricular hypertrophy","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Lyso-Gb3","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Primary screening","subitem_subject_language":"en","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":"Plasma globotriaosylsphingosine level as a primary screening target for Fabry disease in patients with left ventricular hypertrophy","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Plasma globotriaosylsphingosine level as a primary screening target for Fabry disease in patients with left ventricular hypertrophy","subitem_title_language":"en"}]},"item_type_id":"5","owner":"4","path":["17"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2022-12-01"},"publish_date":"2022-12-01","publish_status":"0","recid":"4098","relation_version_is_last":true,"title":["Plasma globotriaosylsphingosine level as a primary screening target for Fabry disease in patients with left ventricular hypertrophy"],"weko_creator_id":"4","weko_shared_id":-1},"updated":"2023-10-30T07:41:26.491896+00:00"}