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医学部 医学科 社会医学講座データマネジメント分野 |
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The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
Watanabe K., Nishio S.Y., Usami S.I., Kumai T., Katada A., Ogasawara N., Shintani T., Morita S.Y., Takeichi N., Goto S.I., Nanba A., Sasaki A., Kobayashi Y., Honkura Y., Adachi M., Takai S., Oda K., Sato T., Yamada T., Shiina K., Ito T., Shinkawa C., Amano A., Kikuchi D., Ogawa H., Wada T., Hirose Y., Noguchi E., Moriyama N., Ohtsuka K., Shirai K., Sadayasu R., Shimada M., Suzumura H., Tono T., Motegi M., Mitoh I., Tada H., Nagai K., Sakata H., Ishikawa K., Yoshida N., Mizutari K., Suzuki Y., Ikezono T., Matsuda H., Noguchi Y., Takeda H., Kobayashi M., Sakurai Y., Hirabayashi G., Tajima S., Nishiyama N., Shirai K., Kawaguchi S., Iwasaki S., Takahashi M., Furutate S., Oka S.I., Yoshihashi H., Futagawa H., Ohishi N., Hosoya M., Kawashima Y., Ito T., Maruyama A., Kumakawa K., Matsunobu T., Sakuma N., Takahashi K., Kashio A., Monobe H., Miyoshi Y., Yabuki K., Seto Y., Sano H., Araki N., Arai Y., Okami M., Wasano K., Hatakeyama H., Isono Y., Ohira S., Komori M., Izumi S., Fujisaka M., Watanabe A., Okamoto M., Ito Y., Takahashi M., Miyagawa M., Takumi Y., Yoshimura H., Shinagawa J., Moteki H., Tsukamoto K., Ichinose A., Obara N., Kuza B., Takada N.
Scientific Reports 14 ( 1 ) 2024年12月
掲載種別:研究論文(学術雑誌) 出版者・発行元:Scientific Reports
The MYO7A gene is known to be responsible for both syndromic hearing loss (Usher syndrome type1B:USH1B) and non-syndromic hearing loss including autosomal dominant and autosomal recessive inheritance (DFNA11, DFNB2). However, the prevalence and detailed clinical features of MYO7A-associated hearing loss across a large population remain unclear. In this study, we conducted next-generation sequencing analysis for a large cohort of 10,042 Japanese hearing loss patients. As a result, 137 patients were identified with MYO7A-associated hearing loss so that the prevalence among Japanese hearing loss patients was 1.36%. We identified 70 disease-causing candidate variants in this study, with 36 of them being novel variants. All variants identified in autosomal dominant cases were missense or in-frame deletion variants. Among the autosomal recessive cases, all patients had at least one missense variant. On the other hand, in patients with Usher syndrome, almost half of the patients carried biallelic null variants (nonsense, splicing, and frameshift variants). Most of the autosomal dominant cases showed late-onset progressive hearing loss. On the other hand, cases with autosomal recessive inheritance or Usher syndrome showed congenital or early-onset hearing loss. The visual symptoms in the Usher syndrome cases developed between age 5–15, and the condition was diagnosed at about 6–15 years of age.
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Yamaguchi F., Yoshinaga N., Kuroki M., Nakasone R., Kenmotsu H., Ueno T., Yada Y., Nakai M., Arimura Y.
Contemporary Clinical Trials Communications 41 101342 - 101342 2024年10月
掲載種別:研究論文(学術雑誌) 出版者・発行元:Contemporary Clinical Trials Communications
Introduction: The essential oil of Shikuwasa (Citrus depressa Hayata) primarily contains limonene and γ-terpinene, which have potential applications in stress management and relaxation. However, the psychological or physiological relaxation effects of Shikuwasa essential oil on humans are still unknown. This study aims to investigate the short-term relaxation effects of Shikuwasa essential oil, one of the less-studied varieties, compared to inhaling odour-free air in young female adults. Methods: and analysis: This study is a two-arm, parallel-group, open-label, randomised controlled superiority trial. Forty young female adults will be assigned with a 1:1 allocation ratio to either the Shikuwasa essential oil inhalation group or the odour-free air inhalation group. The primary outcome measure will be subjective tense arousal (subscale of the Japanese version of the University of Wales Institute of Science and Technology Mood Adjective Checklist). Secondary outcomes include objective measures: miosis rate and peripheral skin temperature for evaluating autonomic nervous activity, and cerebral blood flow (assessed using near-infrared spectroscopy) for evaluating central nervous activity. Since these objective outcome measures cannot be performed at the same time, we divide our experiment into three phases and participants will inhale sample vials for 2 min in each experiment. We will also evaluate individual preferences/impressions regarding inhaled samples and any adverse events. Ethics and dissemination: The study protocol has been reviewed and approved by the Research Ethics Committee of the Faculty of Medicine, University of Miyazaki (reference no: I-0074). The findings of this study will be disseminated to academic and professional audiences via publications in peer-reviewed journals and presentations at academic conferences, and to the broader public via public talks and media/press releases. All study findings, whether negative or positive, will be reported. Trial registration: UMIN Clinical Trials Registry (UMIN-CTR), UMIN000053914. Prospectively registered on March 20, 2024.
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Fujino M., Aikawa H., Nakao K., Takagi K., Otsuka F., Kataoka Y., Asaumi Y., Sumita Y., Nakai M., Kanaoka K., Miyamoto Y., Nicholls S.J., Noguchi T.
International Journal of Cardiology 411 132329 - 132329 2024年9月
記述言語:英語 掲載種別:研究論文(学術雑誌) 出版者・発行元:International Journal of Cardiology
Background: Left ventricular (LV) thrombus is not common but poses significant risks of embolic stroke or systemic embolism. However, the distinction in embolic risk between nonischemic cardiomyopathy (NICM) and ischemic cardiomyopathy (ICM) remains unclear. Methods and results: In total, 2738 LV thrombus patients from the JROAD-DPC (Japanese Registry of All Cardiac and Vascular Diseases Diagnosis Procedure Combination) database were included. Among these patients, 1037 patients were analyzed, with 826 (79.7%) having ICM and 211 with NICM (20.3%). Within the NICM group, the distribution was as follows: dilated cardiomyopathy (DCM; 41.2%), takotsubo cardiomyopathy (27.0%), hypertrophic cardiomyopathy (18.0%), and other causes (13.8%). The primary outcome was a composite of embolic stroke or systemic embolism (SSE) during hospitalization. The ICM and NICM groups showed no significant difference in the primary outcome (5.8% vs. 7.6%, p = 0.34). Among NICM, SSE occurred in 12.6% of patients with DCM, 7.0% with takotsubo cardiomyopathy, and 2.6% with hypertrophic cardiomyopathy. Multivariate logistic regression analysis for SSE revealed an odds ratio of 1.4 (95% confidence interval [CI], 0.7–2.7, p = 0.37) for NICM compared to ICM. However, DCM exhibited a higher adjusted odds ratio for SSE compared to ICM (2.6, 95% CI 1.2–6.0, p = 0.022). Conclusions: This nationwide shows comparable rates of embolic events between ICM and NICM in LV thrombus patients, with DCM posing a greater risk of SSE than ICM. The findings emphasize the importance of assessing the specific cause of heart disease in NICM, within LV thrombus management strategies.
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Yoshinaga N, Thew GR, Hayashi Y, Tanoue H, Nakai M, Clark DM
Trials 25 ( 1 ) 492 - 492 2024年7月
記述言語:英語 掲載種別:研究論文(学術雑誌) 出版者・発行元:Trials
Background: Cognitive therapy for social anxiety disorder (CT-SAD) has extensive empirical support and is recommended in several national guidelines. However, ensuring access to evidence-based psychological therapies such as CT-SAD remains a global challenge. An internet-delivered version of this treatment protocol (iCT-SAD) has recently been developed in the UK as a way to overcome this challenge, demonstrating comparable outcomes to face-to-face CT-SAD whilst requiring less therapist time per client. Initial findings also suggest its cross-cultural transferability, but the previous studies in other cultural settings used the English language programme and only included English-fluent participants as a second language. It is not yet known what outcomes can be achieved once the programme has been translated and adapted for a different cultural context. Therefore, this trial aims to evaluate the clinical efficacy of Japanese iCT-SAD when combined with treatment as usual (TAU) in clients with SAD. Methods: This two-arm, parallel-group, superiority randomised controlled trial will recruit 60 Japanese participants with SAD, randomly assigning them to either Japanese iCT-SAD + TAU or TAU alone at a ratio of 1:1. The primary outcome measure is the self-report Liebowitz Social Anxiety Scale, and secondary.outcomes include other measures of social anxiety symptoms and processes, general mood and functioning, and response to treatment. We will also assess treatment acceptability and gather participant feedback. Assessments will take place at baseline (week 0), mid-treatment (week 8), and post-treatment (week 15), with a further 3-month follow-up (week 27) for the iCT-SAD + TAU arm. The primary analyses will be conducted on an intent-to-treat basis, comparing the primary and secondary outcome measures between groups using linear mixed-effect models, along with additional mediation analysis. Discussion: Investigating the efficacy of translated and culturally adapted iCT-SAD in different cultural contexts is an important step in evaluating the global reach of internet interventions. This trial will provide valuable insights into the effects of iCT-SAD combined with usual care, and how this treatment could be delivered in routine clinical settings in Japan. Trial registration: International Standard Randomized Controlled Trials (ISRCTN), ISRCTN82859645, registered on January 19, 2024. UMIN Clinical Trials Registry (UMIN-CTR), UMIN000052702, registered on November 6, 2023.
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Yoshinaga N., Obara Y., Kawano N., Kondo K., Hayashi Y., Nakai M., Takeda R., Tanoue H.
Behavioral Sciences 14 ( 7 ) 604 - 604 2024年7月
記述言語:英語 掲載種別:研究論文(学術雑誌) 出版者・発行元:Behavioral Sciences
The importance of nurses integrating effective psychological techniques into their clinical practice is widely recognized. Nevertheless, further evidence from real-world settings is needed to establish nurse-led cognitive behavioural therapy (CBT) as an effective approach in clinical practice. This study aimed to examine the clinical effectiveness and predictors of individual CBT for mental disorders delivered by nurses in various routine clinical settings. This pragmatic retrospective cohort study collected data from participants who received nurse-led individual CBT at four institutions from different prefectures in Japan between April 2015 and March 2023. During the study period, 280 clients were referred to nurses for CBT, 240 of whom received nurse-led individual CBT of at least one session. The common primary diagnoses among participants were major depressive disorder (33.8%), social phobia (12.9%), and obsessive–compulsive disorder (10.0%). Of these, 23 participants were ongoing cases at the end of the observation period, and 217 who had completed the course of therapy or discontinued/dropped out from the therapy were included in the analysis (173 completed and 44 discontinued/dropped out (i.e., dropout rate = 20.3%)). Based on the clinical significance definition (primary outcome), 62.4% of the participants who completed the therapy were judged to demonstrate positive clinical significance (recovered or improved), with only a few participants (6.9%) demonstrating deterioration. Significant improvements were observed before and after nurse-led individual CBT across all secondary outcomes, including depression and anxiety symptoms, health-related quality of life, and functional disability (all ps ≤ 0.001). Univariate logistic regression revealed that clients with higher baseline severity of depression and anxiety symptoms were less likely to achieve positive clinical significance following nurse-led individual CBT. The real-world evidence gained through this study will encourage frontline nurses and motivate institutional/organizational leaders and policymakers to employ nurse-led individual CBT, especially for depression and anxiety-related disorders.
DOI: 10.3390/bs14070604
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経皮的冠動脈インターベンションを受けた急性心筋梗塞の高齢患者に対するガイドラインに従った薬物療法【JST機械翻訳】|||
西平賢作, 中井陸運, 栗山根廣, 海北幸一, 柴田剛徳
日本循環器学会学術集会(Web) 88回 PJ087 - 2 2024年3月
記述言語:英語 掲載種別:速報,短報,研究ノート等(学術雑誌) 出版者・発行元:(一社)日本循環器学会
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日本人非弁膜症性心房細動患者における虚血性脳卒中とMajor出血の新規リスク層別化スキーム:J-RISK AF研究【JST機械翻訳】|||
富田泰史, 奧村謙, 奧村謙, 赤尾昌治, 中井陸運, 小谷英太郎, 鈴木信也, 林研至, 澤野充明, 合屋雅彦, 山下武志, 福田恵一, 津田豊暢, 磯部光章, 磯部光章, 豊田一則, 宮本恵宏, 宮本恵宏, 岡村智教, 笹原祐介
日本循環器学会学術集会(Web) 88回 SY08 - 3 2024年3月
記述言語:英語 掲載種別:速報,短報,研究ノート等(学術雑誌) 出版者・発行元:(一社)日本循環器学会
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Fontan循環/病態の重症度を評価する フォンタン術後遠隔の総死亡予測因子は何が最良か?
大内 秀雄, 森 有希, 加藤 愛章, 伊藤 裕貴, 藤本 一途, 岩朝 透, 坂口 平馬, 黒嵜 健一, 中井 陸運
日本成人先天性心疾患学会雑誌 13 ( 1 ) 74 - 74 2024年1月
記述言語:日本語 掲載種別:速報,短報,研究ノート等(学術雑誌) 出版者・発行元:(一社)日本成人先天性心疾患学会
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JROAD-DPCデータからみる成人先天性心疾患における感染性心内膜炎の現状
町野 智子, 大澤 匠, 住田 陽子, 中井 陸運, 川松 直人, 石踊 巧, 野崎 良寛, 村上 卓, 石津 智子
日本成人先天性心疾患学会雑誌 13 ( 1 ) 147 - 147 2024年1月
記述言語:日本語 掲載種別:速報,短報,研究ノート等(学術雑誌) 出版者・発行元:(一社)日本成人先天性心疾患学会
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フォンタン循環患者での急速容量負荷試験
大内 秀雄, 森 有希, 加藤 愛章, 伊藤 裕貴, 藤本 一途, 岩朝 透, 坂口 平馬, 黒嵜 健一, 中井 陸運
日本成人先天性心疾患学会雑誌 13 ( 1 ) 160 - 160 2024年1月
記述言語:日本語 掲載種別:速報,短報,研究ノート等(学術雑誌) 出版者・発行元:(一社)日本成人先天性心疾患学会
科研費(文科省・学振・厚労省)獲得実績 【 表示 / 非表示 】
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抗血栓薬新時代の脳卒中診療リスクベネフィット:複数大規模データベースを用いた解析
研究課題/領域番号:23K27522 2024年04月 - 2027年03月
日本学術振興会 科学研究費助成事業 基盤研究(B)
豊田 一則, 宮本 恵宏, 古賀 政利, 中井 陸運, 吉村 壮平, 三輪 佳織
担当区分:研究代表者
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ビッグデータ・機械学習を用いたアブレーション治療の有効性・安全性予測モデルの作成
研究課題/領域番号:23K24623 2024年04月 - 2025年03月
日本学術振興会 科学研究費助成事業 基盤研究(B)
草野 研吾, 山根 禎一, 清水 渉, 中井 陸運, 岩永 善高
担当区分:研究代表者
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抗血栓薬新時代の脳卒中診療リスクベネフィット:複数大規模データベースを用いた解析
研究課題/領域番号:23H02831 2023年04月 - 2027年03月
日本学術振興会 科学研究費助成事業 基盤研究(B)
豊田 一則, 宮本 恵宏, 古賀 政利, 中井 陸運, 吉村 壮平, 三輪 佳織, 田中 寛大
担当区分:研究分担者
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成人先天性心疾患診療体制の患者アウトカムへの影響:DPCデータを用いた検討
研究課題/領域番号:23K10089 2023年04月 - 2027年03月
日本学術振興会 科学研究費助成事業 基盤研究(C)
落合 亮太, 石津 智子, 中井 陸運, 仁田 学
担当区分:研究分担者
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先天性心疾患を主体とする小児期発症の心血管難治性疾患の救命率の向上と生涯にわたる QOL 改善のための総合的研究
研究課題/領域番号:21FC1014 2023年04月 - 2024年03月
厚生労働省 科学研究費補助金 難治性疾患政策研究事業
担当区分:研究分担者