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所属 |
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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職名 |
准教授 |
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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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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 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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Translated and culturally adapted internet-delivered cognitive therapy for social anxiety disorder in Japanese clinical settings: study protocol for a randomised controlled trial.
Yoshinaga N, Thew GR, Hayashi Y, Tanoue H, Nakai M, Clark DM
Trials 25 ( 1 ) 492 2024年7月
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Kimura M, Matoba T, Nakano Y, Katsuki S, Sakamoto K, Nishihara M, Nagata T, Tahara Y, Nagao K, Okura H, Ikeda T, Nakai M, Tsutsui H
Circulation Reports 6 ( 6 ) 191 - 200 2024年6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：一般社団法人 日本循環器学会
<b><i>Background:</i></b> Coronavirus disease 2019 (COVID-19) has impacted on cardiovascular disease. However, it remains unclear whether the COVID-19 pandemic has impacted on disease severity and patients’ prognosis of acute myocardial infarction (AMI) in Japan.<b><i>Methods and Results:</i></b> We retrospectively accumulated data from the Japanese Registry of All Cardiac and Vascular Diseases–Diagnosis Procedure Combination (JROAD-DPC) study (April 2019 to March 2021). Patients were divided into a before COVID-19 pandemic group or a during COVID-19 pandemic group. The proportion of patients who presented with cardiogenic shock (Killip class IV) was compared between groups, in association with 30-day mortality as the primary outcome. Killip class IV AMI significantly increased in the during COVID-19 pandemic group (15.7% vs. 14.5% in the before pandemic group, P<0.0001). The 30-day mortality was higher in the during COVID-19 pandemic group (9.6% vs. 9.2% in the before COVID-19 pandemic group, P=0.049). However, there was no significant difference in the adjusted 30-day mortality in each Killip class between the before and during COVID-19 pandemic groups.<b><i>Conclusions:</i></b> During the early stage of the COVID-19 pandemic in Japan, 30-day mortality of AMI increased, mainly because of the increase of Killip class IV AMI patients. However, irrespective of the COVID-19 pandemic, the adjusted 30-day mortality of each Killip classification group was unchanged.
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Koyanagi M., Hatano T., Nakai M., Ogura T., Minematsu K., Kobayashi S., Toyoda K.
Journal of the Neurological Sciences 460 123000 2024年5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：Journal of the Neurological Sciences
Introduction: Clinical trials have historically underrepresented patients with posterior circulation ischemic stroke (PCIS). This study aimed to comprehensively assess the clinical characteristics and outcomes of PCIS patients compared to those with anterior circulation ischemic stroke (ACIS). Methods: A retrospective analysis was conducted using data from the Japan Stroke Data Bank, encompassing 20 years across 130 stroke centers. The study focused on patients diagnosed with PCIS or ACIS. Results: Among 37,069 patients reviewed, 7425 had PCIS, whereas 29,644 had ACIS. PCIS patients were younger and had a lower female representation than ACIS patients. Notably, PCIS patients had more favorable outcomes: 71% achieved a modified Rankin Scale of 0–2 or showed no deterioration at discharge (17 days at the median after admission), compared to 60% for ACIS patients (p < 0.001). Factors associated with an unfavorable outcome in the PCIS subgroup were older age, female sex (assigned at birth), history of hypertension, and higher National Institute of Health Stroke Scale (NIHSS) scores at admission. In both sexes, older age and higher NIHSS scores were negatively associated with favorable outcomes. Conclusions: PCIS patients demonstrated a more favorable prognosis than ACIS patients. Factors like older age, female sex, and higher NIHSS scores at admission were identified as independent predictors of unfavorable outcomes in PCIS patients. Older age and higher NIHSS scores at admission were common independent negative factors for a favorable outcome regardless of sex.
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心臓サルコイドーシス患者の免疫抑制療法開始後における心筋トロポニン値経時的評価の予後的意義
數井 翔, 竹中 秀, 永井 利幸, 加藤 喜哉, 小森山 弘和, 小林 雄太, 高橋 昌寛, 神谷 究, 佐藤 琢真, 多田 篤司, 安井 悠太郎, 中井 陸運, 佐藤 隆博, 辻野 一三, 今野 哲, 安斉 俊久
日本サルコイドーシス/肉芽腫性疾患学会雑誌 43 ( サプリメント号 ) 64 - 64 2023年10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：日本サルコイドーシス
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心臓サルコイドーシス患者におけるガドリニウム遅延造影心臓MRIとFDG-PETを用いた複合的画像評価の予後的意義
數井 翔, 竹中 秀, 永井 利幸, 常田 慧徳, 加藤 喜哉, 小森山 弘和, 小林 雄太, 高橋 昌寛, 神谷 究, 天満 太郎, 佐藤 琢真, 多田 篤司, 安井 悠太郎, 中井 陸運, 佐藤 隆博, 辻野 一三, 工藤 與亮, 今野 哲, 安斉 俊久
日本サルコイドーシス/肉芽腫性疾患学会雑誌 43 ( サプリメント号 ) 65 - 65 2023年10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：日本サルコイドーシス
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糖尿病患者における虚血性脳卒中の機序,病巣と予後 日本脳卒中データバンク
江頭 柊平, 三輪 佳織, 和田 晋一, 吉村 壮平, 中井 陸運, 笹原 祐介, 高下 純平, 石上 晃子, 岩永 善高, 宮本 恵宏, 小林 祥泰, 峰松 一夫, 豊田 一則, 古賀 政利
臨床神経学 63 ( Suppl. ) S309 - S309 2023年9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)日本神経学会
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成人先天性心疾患患者の栄養評価(CONUTスコア)の意義
大内 秀雄, 森 有希, 黒嵜 健一, 白石 公, 中井 陸運
日本心臓病学会学術集会抄録 71回 O - 3 2023年9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)日本心臓病学会
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JROAD-DPCを用いた循環器疾患患者における前立腺疾患(肥大症・癌)の有病率に関する疫学的検討
兼田 浩平, 田中 敦史, 中井 陸運, 住田 陽子, 野出 孝一
日本抗加齢医学会総会プログラム・抄録集 23回 261 - 261 2023年6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)日本抗加齢医学会
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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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
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心血管病発症における血管壁ずり応力の意義の解明～新規内皮機能検査法を用いて
研究課題/領域番号：22K07463 2022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(C) 基盤研究(C)
大畑 洋子, 細田 公則, 冨田 努, 中井 陸運, 吉村 壮平, 斎藤 こずえ, 槇野 久士
担当区分：研究分担者