Details of the Researcher

PHOTO

Tomoko Kobayashi
Section
Tohoku Medical Megabank Organization
Job title
Professor
Degree
e-Rad No.
50436119
Researcher ID
DBC-2143-2022
Profile

1997年3月日本医科大学医学部医学科卒業後、日本医科大学附属病院にて小児科研修開始。1997年4月～2005年3月、日本医科大学小児科学教室からの派遣で、小児科全般医療、地域医療、新生児医療、重症心身障害児医療の臨床経験を積む。2005年4月～2013年10月、東北大学小児病態学分野からの派遣で、小児救急医療、小児神経医療、遺伝医療の臨床経験を積むのと併行して、2006年10月～2010年9月、東北大学大学院医学系研究科博士課程で分子遺伝学の研究経験を積む。2013年11月～2025年3月、東北大学東北メディカル・メガバンク機構（東北大学病院小児科兼務）で小児を対象とするゲノム医療の実現化推進に寄与する研究・教育・診療に携わる。2025年4月以降は、小児疾患に対する個別化医療・予防の実現化推進に向けて、東北大学では研究的側面、東北文化学園大学では臨床的側面からアプローチすることにより、日本の小児医療発展に貢献していく。

Research History 8

  • 2025/04 - Present
    Tohoku University

  • 2025/04 - Present
    Tohoku Bunka Gakuen University　Tohoku Bunka Gakuen University　Tohoku Bunka Gakuen University

  • 2019/04 - 2025/03
    Tohoku University　Tohoku Medical Megabank Organization

  • 2017/05 - 2019/03
    Tohoku University　Tohoku Medical Megabank Organization

  • 2013/11 - 2017/04
    Tohoku University　Tohoku Medical Megabank Organization

  • 2006/04 - 2013/10
    東北大学病院　小児科　医員

  • 2001/04 - 2005/03
    Nippon Medical School

  • 1997/05 - 1999/04
    Nippon Medical School

Show all Show first 5

Education 5

  • 日本人類遺伝学会　臨床遺伝専門医

    2010 - Present

  • 日本小児神経学会　小児神経専門医

    2007 - Present

  • 日本小児科学会　小児科専門医

    2005 - Present

  • 東北大学大学院　医学系研究科　博士(医学)課程 修了

    2010/09 -

  • Nippon Medical School　Medical School

    1997/03 -

Committee Memberships 5

  • 日本小児神経学会　評議員

    2021/05 - Present

  • 日本人類遺伝学会　広報委員会

    2017/09 - Present

  • 日本遺伝カウンセリング学会　情報ネットワーク委員会

    2021/04 - 2025/07

  • 日本遺伝カウンセリング学会　評議員

    2021/04 - 2025/07

  • 日本人類遺伝学会　評議員

    2017/09 - 2020/08

Professional Memberships 5

  • 日本遺伝カウンセリング学会

    2013/11 - Present

  • 日本てんかん学会

    2012/05 - Present

  • 日本人類遺伝学会

    2007/10 - Present

  • 日本小児神経学会

    2001/05 - Present

  • 日本小児科学会

    1997/05 - Present

Research Interests 4

  • 遺伝教育学

  • 小児科学

  • 臨床遺伝学

  • 小児神経学

Research Areas 2

  • Life sciences / Medical biochemistry /

  • Life sciences / Fetal medicine/Pediatrics /

Awards 4

  1. 第21回eラーニングアワード「学びの変革特別部門賞」

    2024/11　日本オンライン教育産業協会/ 産経新聞社（後援）総務省、文部科学省、厚生労働省、経済産業省　ゲノム・遺伝子解析研究に参加する小学校低学年向けe-Learningコンテンツ「モノクロゲノム®」

  2. 令和5年度 文部科学大臣表彰、科学技術賞（理解増進部門）

    2023/04　文部科学省　国民の未来型医療理解増進のためのゲノム医学普及啓発

  3. サイエンスアゴラ賞

    2017/11　国立研究開発法人科学技術振興機構　ドラマ「遺伝学的検査が家にやってくる！？」

  4. 第11回 成澤賞

    2010/11　東北大学小児科同窓会　ヌーナン症候群類縁疾患におけるRAF1遺伝子解析とその発症メカニズムの解析

Papers 83

  1. 中学生を対象としたゲノム医療をテーマとした課外授業の実践 Peer-reviewed

    西川洋史, 小林朋子

    理科教室　68　(10)　80-85　2025/10

  2. ゲノム解析研究参加の小学校高学年を対象とするインフォームド・アセント補助資材「モノクロゲノム®～未来編～」：開発と評価に関する研究 Invited Peer-reviewed

    小林朋子

    BIO Clinica　40　(9)　76-78　2025/09

  3. Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan. International-journal Peer-reviewed

    Kinuko Ohneda, Yoichi Suzuki, Yohei Hamanaka, Shu Tadaka, Muneaki Shimada, Junko Hasegawa-Minato, Masanobu Takahashi, Nobuo Fuse, Fuji Nagami, Hiroshi Kawame, Tomoko Kobayashi, Yumi Yamaguchi-Kabata, Kengo Kinoshita, Tomohiro Nakamura, Soichi Ogishima, Kazuki Kumada, Hisaaki Kudo, Shin-Ichi Kuriyama, Yoko Izumi, Ritsuko Shimizu, Mikako Tochigi, Tokiwa Motonari, Hideki Tokunaga, Atsuo Kikuchi, Atsushi Masamune, Yoko Aoki, Chikashi Ishioka, Takanori Ishida, Masayuki Yamamoto

    Journal of human genetics　2025/01/17

    DOI： 10.1038/s10038-024-01314-w 　

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    Large-scale population cohort studies that collect genomic information are tasked with returning an assessment of genetic risk for hereditary cancers to participants. While several studies have applied to return identified genetic risks to participants, comprehensive surveys of participants' understanding, feelings, and behaviors toward cancer risk remain to be conducted. Here, we report our experience and surveys of returning genetic risks to 100 carriers of pathogenic variants for hereditary cancers identified through whole genome sequencing of 50 000 individuals from the Tohoku Medical Megabank project, a population cohort study. The participants were carriers of pathogenic variants associated with either hereditary breast and ovarian cancer (n = 79, median age=41) or Lynch syndrome (n = 21, median age=62). Of these, 28% and 38% had a history of cancer, respectively. We provided information on cancer risk, heritability, and clinical actionability to the participants in person. The comprehension assessment revealed that the information was better understood by younger (under 60 years) females than by older males. Scores on the cancer worry scale were positively related to cancer experiences and general psychological distress. Seventy-one participants were followed up at Tohoku University Hospital; six females underwent risk-reducing surgery triggered by study participation and three were newly diagnosed with cancer during surveillance. Among first-degree relatives of hereditary breast and ovarian cancer carriers, participants most commonly shared the information with daughters. This study showed the benefits of returning genetic risks to the general population and will provide insights into returning genetic risks to asymptomatic pathogenic variant carriers in both clinical and research settings.

  4. Association Between Sodium- and Potassium-Related Urinary Markers and the Prevalence of Atrial Fibrillation. Peer-reviewed

    Sayuri Tokioka, Naoki Nakaya, Rieko Hatanaka, Kumi Nakaya, Mana Kogure, Ippei Chiba, Masato Takase, Kotaro Nochioka, Kai Susukita, Hirohito Metoki, Tomohiro Nakamura, Mami Ishikuro, Taku Obara, Yohei Hamanaka, Masatsugu Orui, Tomoko Kobayashi, Akira Uruno, Eiichi N Kodama, Satoshi Nagaie, Soichi Ogishima, Yoko Izumi, Nobuo Fuse, Shinichi Kuriyama, Satoshi Yasuda, Atsushi Hozawa

    Circulation journal : official journal of the Japanese Circulation Society　2025/01/11

    DOI： 10.1253/circj.CJ-24-0780 　

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    BACKGROUND: The primary prevention of atrial fibrillation (AF), which increases mortality through complications including stroke and heart failure, is important. Excessive salt intake and low potassium intake are risk factors for cardiovascular disease; however, their association with AF remains inconclusive. This study investigated the association between sodium- and potassium-related urinary markers and AF prevalence. METHODS AND RESULTS: Data from the Tohoku Medical Megabank Project Community-based Cohort Study were used in this cross-sectional study. The urinary sodium-to-potassium (Na/K) ratio and estimated 24-h sodium and potassium excretion were calculated using spot urine samples and categorized into quartiles (Q1-Q4). The prevalence of AF was the primary outcome. Of the 26,506 participants (mean age 64.8 years; 33.2% males) included in this study, 630 (2.4%) had AF. Using Q1 as the reference group, the odds ratios for AF prevalence in Q4 were 1.35 (95% confidence interval [CI] 1.07-1.73) and 1.59 (95% CI 1.20-2.12) for 24-h estimated urinary Na/K ratio and estimated 24-h sodium excretion, respectively. Estimated 24-h potassium excretion was not associated with AF prevalence. CONCLUSIONS: AF prevalence was positively associated with the urinary Na/K ratio and estimated 24-h urinary sodium excretion, but not with estimated 24-h urinary potassium excretion. Although further prospective studies are warranted, the findings of this study suggest that salt intake may be a modifiable risk factor for AF.

  5. Depressive symptoms as risk factors for the onset of home hypertension: a prospective cohort study. International-journal Peer-reviewed

    Sayuri Tokioka, Naoki Nakaya, Rieko Hatanaka, Kumi Nakaya, Mana Kogure, Ippei Chiba, Kotaro Nochioka, Hirohito Metoki, Takahisa Murakami, Michihiro Satoh, Tomohiro Nakamura, Mami Ishikuro, Taku Obara, Yohei Hamanaka, Masatsugu Orui, Tomoko Kobayashi, Akira Uruno, Eiichi N Kodama, Satoshi Nagaie, Soichi Ogishima, Yoko Izumi, Nobuo Fuse, Shinichi Kuriyama, Atsushi Hozawa

    Hypertension research : official journal of the Japanese Society of Hypertension　47　(11)　2989-3000　2024/11

    DOI： 10.1038/s41440-024-01790-9 　

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    Depression is comorbid with somatic diseases; however, the relationship between depressive symptoms and hypertension (HT), a risk factor for cardiovascular events, remains unclear. Home blood pressure (BP) is more reproducible and accurately predictive of cardiovascular diseases than office BP. Therefore, we focused on home BP and investigated whether depressive symptoms contributed to the future onset of home HT. This prospective cohort study used data from the Tohoku Medical Megabank Community-Cohort Study (conducted in the Miyagi Prefecture, Japan) and included participants with home normotension (systolic blood pressure (SBP) < 135 mmHg and diastolic blood pressure (DBP) < 85 mmHg). Depressive symptoms were evaluated using the Center for Epidemiologic Studies Depression Scale-Japanese version at the baseline survey. In the secondary survey, approximately 4 years later, the onset of home HT was evaluated (SBP ≥ 135 mmHg or DBP ≥ 85 mmHg) and was compared in participants with and without depressive symptoms. Of the 3 082 (mean age: 54.2 years; females: 80.9%) participants, 729 (23.7%) had depressive symptoms at the baseline survey. During the 3.5-year follow-up, 124 (17.0%) and 388 (16.5%) participants with and without depressive symptoms, respectively, developed home HT. Multivariable adjusted odds ratios were 1.37 (95% confidence interval (CI): 1.02-1.84), 1.18 (95% CI: 0.86-1.61), and 1.66 (95% CI: 1.17-2.36) for home, morning, and evening HT, respectively. This relationship was consistent in the subgroup analyses according to age, sex, BP pattern, and drinking habit. Depressive symptoms increased the risk of new-onset home HT, particularly evening HT, among individuals with home normotension. This prospective cohort study revealed that depressive symptoms are risk factors for new-onset home hypertension, particularly evening hypertension among individuals with home normotension. Assessing home blood pressure in individuals with depressive symptoms is important for the prevention of hypertension and concomitant cardiovascular diseases.

  6. Genetic Risk, Lifestyle Adherence, and Risk of Developing Hyperuricaemia in a Japanese Population Peer-reviewed

    Masato Takase, Naoki Nakaya, Tomohiro Nakamura, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Sayuri Tokioka, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Akira Narita, Taku Obara, Mami Ishikuro, Hisashi Ohseto, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Biobank Japan Project, Koichi Matsuda, Yoko Izumi, Kengo Kinoshita, Gen Tamiya, Atsushi Hozawa, Masayuki Yamamoto

    Rheumatology　2024/09/13

    Publisher: Oxford University Press (OUP)

    DOI： 10.1093/rheumatology/keae492 　

    ISSN： 1462-0324

    eISSN： 1462-0332

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    Abstract Objective To investigate the inter-relationships among genetic risk, healthy lifestyle adherence, and hyperuricaemia susceptibility. Methods This prospective cohort study was conducted with 7,241 hyperuricaemia-free individuals aged ≥ 20 years from the Tohoku Medical Megabank Community-based cohort study. A comprehensive lifestyle score included body mass index, smoking, drinking, and physical activity, and a polygenic risk score (PRS) was constructed based on uric acid loci from a previous genome-wide association study meta-analysis. A multiple logistic regression model was used to estimate the association between genetic risk, healthy lifestyle, and hyperuricaemia incidence and calculate the area under the receiver operating characteristic curve (AUROC). Hyperuricaemia was defined as a uric acid level ≥7.0 mg/dl or a self-reported history of hyperuricaemia. Results Of the 7,241 adults (80.7% females; mean [SD] age: 57.7 [12.6] years), 217 (3.0%) developed hyperuricaemia during 3.5 years of follow-up. Genetic risk correlated with hyperuricaemia development (P for interaction = 0.287), and lifestyle risks were independently associated. Those with a high genetic risk and poor lifestyle had the highest risk (odds ratio: 5.34; 95% confidence interval [CI]: 2.61–12.10). Although not statistically significant, incorporating the PRS in the model with lifestyle information improved predictive ability (AUROC = 0.771, 95% CI: 0.736–0.806 for lifestyle; AUROC = 0.785, 95% CI: 0.751–0.819 for lifestyle and PRS; p = 0.07). Conclusion : A healthy lifestyle to prevent hyperuricaemia, irrespective of genetic risk, may mitigate the genetic risk. Genetic risk may complement lifestyle factors in identifying individuals at a heightened hyperuricaemia risk.

  7. Informed assent supplementary materials for upper grade elementary school students participating in genome analysis research `Monochrome Genome: Earth Edition`: Research on development and evaluation Invited Peer-reviewed

    The CELL　56　(10)　66-67　2024/09

  8. The association of birth weight and current BMI on the risk of hypertension: the Tohoku medical megabank community-based cohort study. International-journal Peer-reviewed

    Hiromi Himuro, Mana Kogure, Naoki Nakaya, Tomohiro Nakamura, Rieko Hatanaka, Ippei Chiba, Kumi Nakaya, Naho Tsuchiya, Takumi Hirata, Masatsugu Orui, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Akira Uruno, Nobuo Fuse, Satoshi Nagaie, Soichi Ogishima, Mami Ishikuro, Taku Obara, Yoko Izumi, Masatoshi Saito, Shinichi Kuriyama, Atsushi Hozawa, Junichi Sugawara

    Hypertension research : official journal of the Japanese Society of Hypertension　2024/08/08

    DOI： 10.1038/s41440-024-01827-z 　

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    This study aimed to investigate the association of combination of birth weight and current body mass index (BMI) with the risk of hypertension in adulthood. This cross-sectional study used data from the Tohoku Medical Megabank Community-based Cohort Study conducted in Japan. A total of 10,688 subjects aged ≥20 years were eligible. We calculated the least square (LS) means of systolic blood pressure (SBP) and trend tests were performed to evaluate the linear relationships between birth weight categories and SBP. We also used a multivariate logistic regression analysis to assess the risk of hypertension associated with the combination of birth weight and current BMI. There was a statistically inverse association between birth weight and SBP in the 20-64 age group, but no significant association in the ≥65 age group. Low birth weight (LBW) with normal BMI group had a higher risk of hypertension than the normal or high birth weight groups with normal BMI. Furthermore, the group with LBW and BMI ≥25.0 kg/m2 was the highest risk for hypertension (adjusted odds ratio: 2.73; 95% CI, 2.04-3.65) compared to the reference group (birth weight 2500-3499 g and BMI 18.5-24.9 kg/m2). There was a significant association between LBW and subsequent risk of hypertension. In addition, participants with lower birth weights had a higher risk of hypertension than those with higher birth weights. However, even in participants with a lower birth weight, the risk of hypertension could be reduced when they maintained an optimal BMI.

  9. Associations of combined genetic and lifestyle risks with hypertension and home hypertension. International-journal Peer-reviewed

    Masato Takase, Takumi Hirata, Naoki Nakaya, Tomohiro Nakamura, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Akira Narita, Hirohito Metoki, Michihiro Satoh, Taku Obara, Mami Ishikuro, Hisashi Ohseto, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Gen Tamiya, Atsushi Hozawa, Masayuki Yamamoto

    Hypertension research : official journal of the Japanese Society of Hypertension　2024/06/24

    DOI： 10.1038/s41440-024-01705-8 　

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    No study, to our knowledge, has constructed a polygenic risk score based on clinical blood pressure and investigated the association of genetic and lifestyle risks with home hypertension. We examined the associations of combined genetic and lifestyle risks with hypertension and home hypertension. In a cross-sectional study of 7027 Japanese individuals aged ≥20 years, we developed a lifestyle score based on body mass index, alcohol consumption, physical activity, and sodium-to-potassium ratio, categorized into ideal, intermediate, and poor lifestyles. A polygenic risk score was constructed with the target data (n = 1405) using publicly available genome-wide association study summary statistics from BioBank Japan. Using the test data (n = 5622), we evaluated polygenic risk score performance and examined the associations of combined genetic and lifestyle risks with hypertension and home hypertension. Hypertension and home hypertension were defined as blood pressure measured at a community-support center ≥140/90 mmHg or at home ≥135/85 mmHg, respectively, or self-reported treatment for hypertension. In the test data, 2294 and 2322 participants had hypertension and home hypertension, respectively. Both polygenic risk and lifestyle scores were independently associated with hypertension and home hypertension. Compared with those of participants with low genetic risk and an ideal lifestyle, the odds ratios for hypertension and home hypertension in the low genetic risk and poor lifestyle group were 1.94 (95% confidence interval, 1.34-2.80) and 2.15 (1.60-2.90), respectively. In summary, lifestyle is important to prevent hypertension; nevertheless, participants with high genetic risk should carefully monitor their blood pressure despite a healthy lifestyle.

  10. Genetic Risk, Healthy Lifestyle Adherence, and Risk of Developing Diabetes in the Japanese Population. Peer-reviewed

    Masato Takase, Naoki Nakaya, Tomohiro Nakamura, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Akira Narita, Taku Obara, Mami Ishikuro, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Koichi Matsuda, Yoko Izumi, Kengo Kinoshita, Gen Tamiya, Atsushi Hozawa, Masayuki Yamamoto

    Journal of atherosclerosis and thrombosis　2024/06/22

    DOI： 10.5551/jat.64906 　

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    AIM: This study examined the relationship between genetic risk, healthy lifestyle, and risk of developing diabetes. METHODS: This prospective cohort study included 11,014 diabetes-free individuals ≥ 20 years old from the Tohoku Medical Megabank Community-based cohort study. Lifestyle scores, including the body mass index, smoking, physical activity, and gamma-glutamyl transferase (marker of alcohol consumption), were assigned, and participants were categorized into ideal, intermediate, and poor lifestyles. A polygenic risk score (PRS) was constructed based on the type 2 diabetes loci from the BioBank Japan study. A multiple logistic regression model was used to estimate the association between genetic risk, healthy lifestyle, and diabetes incidence and to calculate the area under the receiver operating characteristic curve (AUROC). RESULT: Of the 11,014 adults included (67.8% women; mean age [standard deviation], 59.1 [11.3] years old), 297 (2.7%) developed diabetes during a mean 4.3 (0.8) years of follow-up. Genetic and lifestyle score is independently associated with the development of diabetes. Compared with the low genetic risk and ideal lifestyle groups, the odds ratio was 3.31 for the low genetic risk and poor lifestyle group. When the PRS was integrated into a model including the lifestyle and family history, the AUROC significantly improved to 0.719 (95% confidence interval [95% CI]: 0.692-0.747) compared to a model including only the lifestyle and family history (0.703 [95% CI, 0.674-0.732]). CONCLUSION: Our findings indicate that adherence to a healthy lifestyle is important for preventing diabetes, regardless of genetic risk. In addition, genetic risk might provide information beyond lifestyle and family history to stratify individuals at high risk of developing diabetes.

  11. Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses Peer-reviewed

    Takafumi Ojima, Shinichi Namba, Ken Suzuki, Kenichi Yamamoto, Kyuto Sonehara, Akira Narita, he Tohoku Medical Megabank Projec, Study Group, he Biobank Japan Projec, Yoichiro Kamatani, Gen Tamiya, Masayuki Yamamoto, Toshimasa Yamauchi, Takashi Kadowaki, Yukinori Okada

    Nature Genetics　56　(6)　1100-1109　2024/06/11

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1038/s41588-024-01782-y 　

    ISSN： 1061-4036

    eISSN： 1546-1718

  12. Informed assent supplementary materials for lower grade elementary school students participating in genome analysis research `Monokuro-genome`: Research on development and evaluation Invited Peer-reviewed

    The CELL　56　(6)　48-49　2024/06

  13. Relationships of Fat Mass Index and Fat-Free Mass Index with Low-Density Lipoprotein Cholesterol Levels in the Tohoku Medical Megabank Community-Based Cohort Study. Peer-reviewed

    Masato Takase, Tomohiro Nakamura, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Taku Obara, Mami Ishikuro, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Yoko Izumi, Shinichi Kuriyama, Atsushi Hozawa

    Journal of atherosclerosis and thrombosis　31　(6)　979-1003　2024/06/01

    DOI： 10.5551/jat.64535 　

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    AIMS: Although fat mass (FM) and fat-free mass (FFM) have an impact on lipid metabolism, the relationship between different body composition phenotypes and lipid profiles is still unclear. By dividing the FM and FFM by the square of the height, respectively, the fat mass index (FMI) and fat-free mass index (FFMI) can be used to determine the variations in body composition. This study aimed to investigate the relationship of combined FMI and FFMI with low-density lipoprotein cholesterol (LDL-C) levels. METHODS: This cross-sectional study comprised 5,116 men and 13,630 women without cardiovascular disease and without treatment for hypertension, and diabetes. Following sex-specific quartile classification, FMI and FFMI were combined into 16 groups. Elevated LDL-C levels were defined as LDL-C ≥ 140 mg/dL and/or dyslipidemia treatment. Multivariable logistic regression models were used to examine the relationships between combined FMI and FFMI and elevated LDL-C levels. RESULTS: Overall, elevated LDL-C levels were found in 1,538 (30.1%) men and 5,434 (39.9%) women. In all FFMI subgroups, a higher FMI was associated with elevated LDL-C levels. Conversely, FFMI was inversely associated with elevated LDL-C levels in most FMI subgroups. Furthermore, the groups with the highest FMI and lowest FFMI had higher odds ratios for elevated LDL-C levels than those with the lowest FMI and highest FFMI. CONCLUSIONS: Regardless of FFMI, FMI was positively associated with elevated LDL-C levels. Conversely, in the majority of FMI subgroups, FFMI was inversely associated with elevated LDL-C levels.

  14. Relationship between traditional risk factors for hypertension and systolic blood pressure in the Tohoku Medical Megabank Community-based Cohort Study. International-journal Peer-reviewed

    Masato Takase, Naoki Nakaya, Kozo Tanno, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Tomohiro Nakamura, Takumi Hirata, Taku Obara, Mami Ishikuro, Yuka Kotozaki, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Hideki Ohmomo, Nobuo Fuse, Junichi Sugawara, Atsushi Shimizu, Yoko Izumi, Shinichi Kuriyama, Atsushi Hozawa

    Hypertension research : official journal of the Japanese Society of Hypertension　47　(6)　1533-1545　2024/06

    DOI： 10.1038/s41440-024-01582-1 　

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    Risk factors for hypertension have been emphasized in the Japanese Society of Hypertension Guidelines for the Management of Hypertension. However, large-scale studies on the association of smoking, potassium excretion, and gamma-glutamyl transferase level with BP in the Japanese population are limited. We conducted a cross-sectional study to examine the association between hypertension risk factors and systolic blood pressure in the Tohoku Medical Megabank Community-based Cohort Study (23,446 men and 38,921 women aged ≥20 years). A model adjusted for age, body mass index, smoking status, drinking status, estimated daily salt intake, potassium excretion, (or urinary sodium-to-potassium ratio), gamma-glutamyl transferase, physical activity, education level, status of damage to homes during the Great East Japan Earthquake, and residential areas was used. The average age and systolic blood pressure were 62.5 (10.3) years for men and 59.6 (11.3) years for women, 128.9 (16.7) mmHg for men and 124.7 (17.5) mmHg for women, respectively. Body mass index estimated daily salt intake, urinary sodium-to-potassium ratio and gamma-glutamyl transferase levels were positively associated with systolic blood pressure. Compared with never-drinkers, current drinkers who consumed 23-45 g/day and ≥46.0 g/day had significantly increased systolic blood pressure. Conversely, current smokers (1-10 cigarettes/day and 11-20 cigarettes/day) were inversely associated with systolic blood pressure compared to never-smokers. Overall, systolic blood pressure was associated with gamma-glutamyl transferase and hypertension risk factors, including body mass index, alcohol consumption, estimated daily salt intake, urinary sodium-to-potassium ratio, and potassium excretion. Our findings support the notion that lifestyle modifications should be attempted to prevent hypertension.

  15. Association of physiological factors with grip and leg extension strength: tohoku medical megabank community-based cohort study. International-journal Peer-reviewed

    Yoshiaki Noji, Rieko Hatanaka, Naoki Nakaya, Mana Kogure, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Tomohiro Nakamura, Naho Tsuchiya, Haruki Momma, Yohei Hamanaka, Masatsugu Orui, Tomoko Kobayashi, Akira Uruno, Eiichi N Kodama, Ryoichi Nagatomi, Nobuo Fuse, Shinichi Kuriyama, Atsushi Hozawa

    BMC public health　24　(1)　714-714　2024/03/05

    DOI： 10.1186/s12889-024-18244-z 　

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    BACKGROUND: Upper and lower extremity muscle strength can be used to predict health outcomes. However, the difference between the relation of upper extremity muscle and of lower extremity muscle with physiological factors is unclear. This study aimed to evaluate the association between physiological data and muscle strength, measured using grip and leg extension strength, among Japanese adults. METHODS: We conducted a cross-sectional study of 2,861 men and 6,717 women aged ≥ 20 years living in Miyagi Prefecture, Japan. Grip strength was measured using a dynamometer. Leg extension strength was measured using a hydraulic isokinetic leg press machine. Anthropometry and physiological data, including blood pressure, calcaneal ultrasound bone status, pulmonary function, carotid echography, and blood information, were assessed. We used a general linear model adjusted for age, body composition, and smoking status to evaluate the association between muscle strength and physiological factors. RESULTS: Grip and leg extension strength were positively associated with bone area ratio, vital capacity, forced vital capacity, forced expiratory volume in one second, and estimated glomerular filtration rate, and negatively associated with waist circumference and percentage body fat mass in both the sexes. Diastolic blood pressure was positively associated with grip strength in both the sexes and leg extension strength in men, but not women. High-density lipoprotein cholesterol and red blood cell counts were positively associated with grip and leg extension strength in women, but not men. In both the sexes, pulse rate, total cholesterol, and uric acid were consistently associated with only leg extension strength, but not grip strength. In women, glycated hemoglobin demonstrated negative and positive associations with grip and leg extension strength, respectively. CONCLUSIONS: Grip and leg extension strength demonstrated similar associations with anthropometry, pulmonary function, and estimated glomerular filtration rate, but the associations with the other factors were not always consistent.

  16. The Association of Urinary Sodium-to-Potassium Ratio and Estimated Urinary Sodium Excretion with Atrial Fibrillation among Participants without Hypertension(タイトル和訳中) Peer-reviewed

    時岡 紗由理, 中谷 直樹, 畑中 里衣子, 中谷 久美, 千葉 一平, 小暮 真奈, 後岡 広太郎, 大類 真嗣, 宇留野 晃, 小林 朋子, 児玉 栄一, 濱中 洋平, 布施 昇男, 寳澤 篤

    日本循環器学会学術集会抄録集　88回　PJ005-4　2024/03

    Publisher: (一社)日本循環器学会

  17. 【日本小児神経学会推薦総説】小児科医と学校教諭の連携による、小児を対象とするゲノム医学普及啓発活動 Peer-reviewed

    小林朋子

    日本小児科学会雑誌　128　(3)　453-460　2024/03

  18. Progress report of the Tohoku Medical Megabank Community-Based Cohort Study: Study profile of the repeated center-based survey during second period in Miyagi Prefecture. Peer-reviewed

    Atsushi Hozawa, Kumi Nakaya, Naoki Nakaya, Tomohiro Nakamura, Mana Kogure, Rieko Hatanaka, Ippei Chiba, Ikumi Kanno, Junichi Sugawara, Eiichi Kodama, Yohei Hamanaka, Tomoko Kobayashi, Akira Uruno, Naho Tsuchiya, Takumi Hirata, Akira Narita, Akito Tsuboi, Toru Tamahara, Akihito Otsuki, Maki Goto, Makiko Taira, Ritsuko Shimizu, Kichiya Suzuki, Taku Obara, Masahiro Kikuya, Hirohito Metoki, Mami Ishikuro, Inaho Danjoh, Soichi Ogishima, Satoshi Nagaie, Naoko Minegishi, Masahiro Hiratsuka, Kazuki Kumada, Ichiko Nishijima, Takahiro Nobukuni, Yumi Yamaguchi-Kabata, Fuji Nagami, Shigeo Kure, Nobuo Fuse, Kengo Kinoshita, Yoko Izumi, Shinichi Kuriyama, Masayuki Yamamoto

    Journal of epidemiology　2024/02/24

    DOI： 10.2188/jea.JE20230241 　

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    BACKGROUND: The purpose of this study was to report the basic profile of the Miyagi Prefecture part of a repeated center-based survey during the second period (2nd period survey) of the Tohoku Medical Megabank Community-Based Cohort Study (TMM CommCohort Study), as well as the participants' characteristics based on their participation type in the baseline survey. METHODS: The 2nd period survey, conducted from June 2017 to March 2021, included participants of the TMM CommCohort Study (May 2013 to March 2016). In addition to the questionnaire, blood, urine, and physiological function tests were performed during the 2nd period survey. There were three main ways of participation in the baseline survey: Type 1, Type 1 additional, or Type 2 survey. The 2nd period survey was conducted in the same manner as the Type 2 survey, which was based on the community support center (CSC). RESULTS: In Miyagi Prefecture, 29,383 (57.7%) of 50,967 participants participated in the 2nd period survey. The participation rate among individuals who had visited the CSC was approximately 80%. Although some factors differed depending on the participation type in the baseline survey, the 2nd period survey respondents in the Type 1 and Type 2 survey groups at baseline had similar traits. CONCLUSIONS: The 2nd period survey of the TMM CommCohort Study provided detailed follow-up information. Following up on the health conditions of the participants will clarify the long-term effects of disasters and contribute to personalized prevention.

  19. The association between depressive symptoms and masked hypertension in participants with normotension measured at research center. International-journal Peer-reviewed

    Sayuri Tokioka, Naoki Nakaya, Kumi Nakaya, Mana Kogure, Rieko Hatanaka, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Hirohito Metoki, Takahisa Murakami, Michihiro Satoh, Tomohiro Nakamura, Mami Ishikuro, Taku Obara, Yohei Hamanaka, Masatsugu Orui, Tomoko Kobayashi, Akira Uruno, Eiichi N Kodama, Satoshi Nagaie, Soichi Ogishima, Yoko Izumi, Nobuo Fuse, Shinichi Kuriyama, Atsushi Hozawa

    Hypertension research : official journal of the Japanese Society of Hypertension　2023/10/31

    DOI： 10.1038/s41440-023-01484-8 　

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    Masked hypertension is a risk factor for cardiovascular diseases. However, masked hypertension is sometimes overlooked owing to the requirement for home blood pressure measurements for diagnosing. Mental status influences blood pressure. To reduce undiagnosed masked hypertension, this study assessed the association between depressive symptoms and masked hypertension. This cross-sectional study used data from the Tohoku Medical Megabank Project Community-Based Cohort Study (conducted in Miyagi Prefecture, Japan, from 2013) and included participants with normotension measured at the research center (systolic blood pressure<140 mmHg and diastolic blood pressure <90 mmHg). Depressive symptoms were assessed using the Center for Epidemiologic Studies Depression Scale (Japanese version). Masked hypertension was defined as normotension measured at the research center and home hypertension (home systolic blood pressure ≥135 mmHg or home diastolic blood pressure ≥85 mmHg). The study comprised 6705 participants (mean age: 55.7 ± 13.7 years). Of these participants, 1106 (22.1%) without depressive symptoms and 393 (23.2%) with depressive symptoms were categorized to have masked hypertension. Sex-specific and age-adjusted least mean squares for home blood pressure, not for research blood pressure were significantly higher in the group with depressive symptoms in both sex categories. The multivariate odds ratio for masked hypertension in the patients with depressive symptoms was 1.72 (95% confidence interval: 1.26-2.34) in male participants and 1.30 (95% confidence interval: 1.06-1.59) in female ones. Depressive symptoms were associated with masked hypertension in individuals with normotension measured at the research center. Depressive symptoms may be one of the risk factors for masked hypertension. Depressive symptoms were associated with masked hypertension in individuals with normotension measured at research center.

  20. The risk of withdrawal from hypertension treatment in coastal areas after the Great East Japan Earthquake: the TMM CommCohort Study. International-journal Peer-reviewed

    Rieko Hatanaka, Naoki Nakaya, Mana Kogure, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Hideaki Hashimoto, Tomohiro Nakamura, Kotaro Nochioka, Taku Obara, Yohei Hamanaka, Junichi Sugawara, Tomoko Kobayashi, Akira Uruno, Eiichi N Kodama, Nobuo Fuse, Shinichi Kuriyama, Atsushi Hozawa

    Hypertension research : official journal of the Japanese Society of Hypertension　2023/10/13

    Publisher: Springer Science and Business Media LLC

    DOI： 10.1038/s41440-023-01454-0 　

    ISSN： 0916-9636

    eISSN： 1348-4214

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    Abstract This study aimed to examine whether risk of withdrawal from HTTx was higher in coastal areas that were severely damaged by tsunami than in inland areas. We conducted a cross-sectional study of 9218 participants aged ≥20 years in Miyagi, Japan. The odds ratios (ORs) and confidence interval (CI) for withdrawal from HTTx in coastal and inland groups were compared using multivariate logistic regression analysis, adjusting for potential confounders. In total, 194 of 5860 and 146 of 3358 participants in the inland and coastal groups, respectively, withdrew from HTTx treatment. OR (95%CI) of withdrawal from HTTx in the coastal group was 1.46 (1.14–1.86) compared to the inland group. According to housing damage, ORs (95% CI) in the no damage, partially destroyed, and more than half destroyed coastal groups compared with the no damage inland group were 1.62 (1.04–2.50), 1.69 (1.17–2.45), and 1.08 (0.71–1.65), respectively. In conclusion, the risk of HTTx withdrawal for participants whose homes in coastal areas were relatively less damaged was significantly higher compared with those in inland areas, while the risk of HTTx withdrawal for participants whose homes were more than half destroyed was not. Post-disaster administrative support for disaster victims is considered vital for continuation of their treatment.

  21. A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor Peer-reviewed

    Saki Uneoka, Tomoko Kobayashi, Yurika Numata-Uematsu, Yoshitsugu Oikawa, Yu Katata, Yukimune Okubo, Yu Abe, Atsuo Kikuchi, Jun Takayama, Gen Tamiya, Shigeo Kure, Kayoko Saito, Mitsugu Uematsu

    Pediatric Neurology　146　16-20　2023/09

    Publisher: Elsevier BV

    DOI： 10.1016/j.pediatrneurol.2023.06.002 　

    ISSN： 0887-8994

  22. Association of Central Blood Pressure and Carotid Intima Media Thickness with New-Onset Hypertension in People with High Normal Blood Pressure. Peer-reviewed

    Sayuri Tokioka, Naoki Nakaya, Kumi Nakaya, Masato Takase, Mana Kogure, Rieko Hatanaka, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Hirohito Metoki, Takahisa Murakami, Michihiro Satoh, Tomohiro Nakamura, Taku Obara, Yohei Hamanaka, Tomoko Kobayashi, Akira Uruno, Junichi Sugawara, Eiichi N Kodama, Soichi Ogishima, Yoko Izumi, Nobuo Fuse, Shinichi Kuriyama, Ichiro Tsuji, Atsushi Hozawa

    Journal of atherosclerosis and thrombosis　2023/07/05

    DOI： 10.5551/jat.64151 　

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    AIM: People with high normal blood pressure (BP) have a higher risk of cardiovascular events than those with normal BP; therefore, progression to hypertension (HT) should be prevented. We aimed to assess the HT risk using central BP and carotid intima media thickness (CIMT) in people with high normal BP. METHODS: This prospective cohort study used the Tohoku Medical Megabank Community-Based Project Cohort Study (conducted from 2013 in Miyagi Prefecture in Japan). The participants had a high normal BP, defined as a systolic BP of 120-139 mmHg and diastolic BP ＜90 mmHg using brachial BP measurement during the baseline survey. The outcome was new-onset HT during the secondary survey, conducted four years after the baseline survey. RESULTS: Overall, 4,021 participants with high normal BP during the baseline survey, with an average age of 58.7 years, were included; 1,030 (26%) were diagnosed with new-onset HT during the secondary survey, 3.5± 0.7 years after the baseline survey. The multivariable odds ratio (95% confidence interval) for HT in the highest versus lowest quartile of central BP was 1.7 (1.2-2.4, p=0.0030), and that of CIMT was 1.8 (1.4-2.4, p＜0.001). Subgroup analysis according to age (＜60 and ≥ 60 years) and sex revealed that the central BP was influential in groups with younger age and female individuals; CIMT was influential in all groups. CONCLUSIONS: Higher central BP and thicker CIMT at the baseline were correlated with new-onset HT in individuals with high normal BP, independent of brachial systolic BP and other cardiovascular risk factors.

  23. Tohoku Medical Megabank Brain Magnetic Resonance Imaging Study: Rationale, Design, and Background Peer-reviewed

    Makiko Taira, Shunji Mugikura, Naoko Mori, Atsushi Hozawa, Tomo Saito, Tomohiro Nakamura, Hideyasu Kiyomoto, Tadao Kobayashi, Soichi Ogishima, Fuji Nagami, Akira Uruno, Ritsuko Shimizu, Tomoko Kobayashi, Jun Yasuda, Shigeo Kure, Miyuki Sakurai, Ikuko N. Motoike, Kazuki Kumada, Naoki Nakaya, Taku Obara, Kentaro Oba, Atsushi Sekiguchi, Benjamin Thyreau, Tatsushi Mutoh, Yuji Takano, Mitsunari Abe, Norihide Maikusa, Yasuko Tatewaki, Yasuyuki Taki, Nobuo Yaegashi, Hiroaki Tomita, Kengo Kinoshita, Shinichi Kuriyama, Nobuo Fuse, Masayuki Yamamoto

    JMA Journal　6　(3)　246-264　2023/07

    Publisher: Japan Medical Association

    DOI： 10.31662/jmaj.2022-0220 　

    ISSN： 2433-328X

    eISSN： 2433-3298

  24. Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14). International-journal Peer-reviewed

    Tomoko Kobayashi, Fumiyoshi Fujishima, Kazuaki Tokodai, Chiaki Sato, Takashi Kamei, Noriko Miyake, Naomichi Matsumoto, Tomoki Kosho

    Genes　14　(5)　2023/05/14

    DOI： 10.3390/genes14051079 　

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    Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral, ocular, and gastrointestinal systems. It is caused by pathogenic variants in the carbohydrate sulfotransferase 14 gene (mcEDS-CHST14) or in the dermatan sulfate epimerase gene (mcEDS-DSE). As gastrointestinal complications of mcEDS-CHST14, diverticula in the colon, small intestine, or stomach have been reported, which may lead to gastrointestinal perforation, here, we describe sisters with mcEDS-CHST14, who developed colonic perforation with no evidence of diverticula and were successfully treated through surgery (a resection of perforation site and colostomy) and careful postoperative care. A pathological investigation did not show specific abnormalities of the colon at the perforation site. Patients with mcEDS-CHST14 aged from the teens to the 30s should undergo not only abdominal X-ray photography but also abdominal computed tomography when they experience abdominal pain.

  25. Combined fat mass and fat-free mass indices and lung function among Japanese population: The Tohoku Medical Megabank Community-based Cohort Study. Peer-reviewed

    Masato Takase, Mitsuhiro Yamada, Tomohiro Nakamura, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Yohei Hamanaka, Junichi Sugawara, Tomoko Kobayashi, Nobuo Fuse, Akira Uruno, Eiichi N Kodama, Shinichi Kuriyama, Ichiro Tsuji, Atsushi Hozawa

    Journal of epidemiology　2023/04/08

    DOI： 10.2188/jea.JE20220355 　

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    BACKGROUND: Although fat mass index (FMI) and fat-free mass index (FFMI) affect lung function, FMI and FFMI are not independent of each other since FMI and FFMI were calculated as fat mass and fat-free mass divided by height squared, respectively. We aimed to examine the association of combined FMI and FFMI with lung function. METHODS: In this cross-sectional study, lung function was evaluated using forced expiratory volume at 1 s and forced vital capacity was measured using spirometry. Both FMI and FFMI were classified into sex-specific quartiles (16 groups). Analysis of covariance was used to assess the associations of combined FMI and FFMI with lung function. The trend test was conducted by stratifying the FMI and FFMI, scoring the categories from 1-4 (lowest-highest), and entering the number as a continuous term in the regression model. RESULTS: This study included 3,736 men and 8,821 women aged ≥20 years living in Miyagi Prefecture, Japan. The mean FEV1 (standard deviation) was 3.0 (0.7) L for men and 2.3 (0.5) L for women. The mean FVC was 3.8 (0.7) L for men and 2.8 (0.5) L for women. The FMI was inversely associated with lung function among all FFMI subgroups in both sexes. Conversely, FFMI was positively associated with lung function in all FMI subgroups in both sexes. CONCLUSIONS: Higher FMI was associated with lower lung function independent of FFMI; higher FFMI was associated with higher lung function independent of FMI. Reducing FMI and maintaining FFMI might be important for respiratory health.

  26. Carotid Intima Media Thickness and Risk Factor for Atherosclerosis: Tohoku Medical Megabank Community-Based Cohort Study. Peer-reviewed

    Masato Takase, Naoki Nakaya, Tomohiro Nakamura, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Yohei Hamanaka, Junichi Sugawara, Tomoko Kobayashi, Nobuo Fuse, Akira Uruno, Eiichi N Kodama, Shinichi Kuriyama, Ichiro Tsuji, Atsushi Hozawa

    Journal of atherosclerosis and thrombosis　2023/02/11

    DOI： 10.5551/jat.64039 　

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    AIM: We examined the association between the carotid intima medica thickness (cIMT) and risk factors for atherosclerosis based on the Japan Atherosclerosis Society 2022 Atherosclerosis Prevention Guideline. METHODS: Using data from the Tohoku Medical Megabank Community-based Cohort Study, we performed a cross-sectional study that enrolled 13,366 participants (age ≥ 20 years) with an analysis of covariance to assess associations between cIMT and risk factors for atherosclerosis. The maximum common carotid artery was measured using high-resolution B-mode ultrasound. Analysis was conducted in the model adjusted for age, sex, smoking status, drinking status, body mass index (BMI), systolic blood pressure (SBP), glycated hemoglobin (HbA1c), high-density lipoprotein-cholesterol (HDL-C), non-high-density lipoprotein-cholesterol (non-HDL-C), and height. RESULTS: In this study cohort, the average age and cIMT were 57.3 (13.8) years and 0.61 (0.13) mm, respectively, which included 3,988 males (29.8%). Males had a higher cIMT than did the females. Age, height, BMI, SBP, HbA1c, and non-HDL-C were positively associated with cIMT. HDL-C was inversely associated with cIMT. Compared with never drinkers, current drinkers (≥ 46.0 g/day) had a significantly decreased cIMT. CONCLUSIONS: The cIMT was associated with atherosclerosis risk factors including age, sex, BMI, SBP, HbA1c, non-HDL-C, and HDL-C, and adequate control of risks in high-risk individuals might be required to prevent atherosclerotic cardiovascular diseases.

  27. Association between lung function and hypertension and home hypertension in a Japanese population: the Tohoku Medical Megabank Community-Based Cohort Study. International-journal Peer-reviewed

    Masato Takase, Mitsuhiro Yamada, Tomohiro Nakamura, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Yohei Hamanaka, Junichi Sugawara, Tomoko Kobayashi, Nobuo Fuse, Akira Uruno, Eiichi N Kodama, Shinichi Kuriyama, Ichiro Tsuji, Atsushi Hozawa

    Journal of hypertension　41　(3)　443-52　2023/01/04

    DOI： 10.1097/HJH.0000000000003356 　

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    BACKGROUND: Although several studies have shown an inverse association between lung function and hypertension, few studies have examined the association between lung function and hypertension among never-smokers, and no study has investigated the association between lung function and home hypertension. We investigated the associations between lung function and hypertension in a Japanese population. INDIVIDUALS AND METHODS: We conducted a cross-sectional study of 3728 men and 8795 women aged 20 years or older living in Miyagi Prefecture, Japan. Lung function was assessed using forced expiratory volume at 1 s (FEV1) and forced vital capacity (FVC), measured by spirometry. Hypertension was defined as a casual blood pressure at least 140/90 mmHg and/or self-reported treatment for hypertension. Home hypertension was defined as morning home blood pressure at least 135/85 mmHg and/or self-reported treatment for hypertension. Multivariate logistic regression models adjusted for potential confounders were used to assess the association between lung function and hypertension. RESULTS: The mean ages (±SD) of men and women were 60.1 (±14.0) years and 56.2 (±13.4) years, respectively, and 1994 (53.5%) men and 2992 (34.0%) women had hypertension. In the multivariable models, FEV1 and FVC were inversely associated with hypertension. Inverse associations between lung function and hypertension were observed even among never-smokers. Furthermore, reduced lung function was associated with higher prevalence of home hypertension in men and women. CONCLUSION: Reduced lung function was associated with higher prevalence of hypertension, independent of smoking status. Assessment of the lung function or blood pressure may be required in individuals with reduced lung function or hypertension.

  28. Influence of Diabetes Family History on the Associations of Combined Genetic and Lifestyle Risks with Diabetes in the Tohoku Medical Megabank Community-Based Cohort Study Peer-reviewed

    Masato Takase, Naoki Nakaya, Tomohiro Nakamura, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Akira Narita, Taku Obara, Mami Ishikuro, Akira Uruno, Tomoko Kobayashi, Eiichi N Kodama, Yohei Hamanaka, Masatsugu Orui, Soichi Ogishima, Satoshi Nagaie, Nobuo Fuse, Junichi Sugawara, Shinichi Kuriyama, Ichiro Tsuji, Gen Tamiya, Atsushi Hozawa, Masayuki Yamamoto

    Journal of Atherosclerosis and Thrombosis　2023

    Publisher: Japan Atherosclerosis Society

    DOI： 10.5551/jat.64425 　

    ISSN： 1340-3478

    eISSN： 1880-3873

  29. 5歳児の情緒・行動に関する疫学研究～不登校予防を目的とした早期介入プログラム策定のための予備調査～ Invited Peer-reviewed

    小林美佳, 小林朋子

    公衆衛生情報みやぎ　531　43-47　2022/12

  30. Design and Progress of Child Health Assessments at Community Support Centers in the Birth and Three-Generation Cohort Study of the Tohoku Medical Megabank Project. Peer-reviewed

    Tomoko Kobayashi, Mika Kobayashi, Naoko Minegishi, Masahiro Kikuya, Taku Obara, Mami Ishikuro, Chizuru Yamanaka, Tomomi Onuma, Keiko Murakami, Fumihiko Ueno, Aoi Noda, Akira Uruno, Junichi Sugawara, Kichiya Suzuki, Eiichi N Kodama, Yohei Hamanaka, Naho Tsuchiya, Mana Kogure, Naoki Nakaya, Makiko Taira, Mika Sakurai-Yageta, Toru Tamahara, Junko Kawashima, Maki Goto, Akihito Otsuki, Ritsuko Shimizu, Soichi Ogishima, Hiroaki Hashizume, Fuji Nagami, Tomohiro Nakamura, Atsushi Hozawa, Tadao Kobayashi, Nobuo Fuse, Shinichi Kuriyama, Shigeo Kure, Masayuki Yamamoto

    The Tohoku journal of experimental medicine　259　(2)　93-105　2022/12/01

    DOI： 10.1620/tjem.2022.J103 　

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    The Tohoku Medical Megabank Project (TMM) has been conducting a birth and three-generation cohort study (the BirThree Cohort Study). We recruited 73,529 pregnant women and their family members for this cohort study, which included 23,143 newborns and 9,459 of their siblings. We designed and are in the process of conducting three-step health assessments for each newborn at approximately ages of 5, 10 and 16. These health assessments are administered at seven community support centers. Trained genome medical research coordinators conduct physical examinations of and collect biological specimens from each participant. The Sendai Children's Health Square has been established as the headquarters for these child health assessments and is utilized to accumulate knowledge that can facilitate the proper practice of child health assessments. We designed all the relevant health assessments facilities to allow parents and their children to participate in the health assessments concomitantly. Our centers serve as places where child participants and their parents can feel at ease as a result of the implementation of safety measures and child hospitality measures. The TMM BirThree Cohort Study is in the process of conducting strategically detailed health assessments and genome analysis, which can facilitate studies concerning the gene-environment interactions relevant to noncommunicable diseases. Through these operations, our study allows for a significant depth of data to be collected in terms of the number of biospecimens under study and the comprehensiveness of both basic and clinical data alongside relevant family information.

  31. The Association of Lung Function and Carotid Intima-Media Thickness in a Japanese Population: The Tohoku Medical Megabank Community-Based Cohort Study. Peer-reviewed

    Masato Takase, Mitsuhiro Yamada, Tomohiro Nakamura, Naoki Nakaya, Mana Kogure, Rieko Hatanaka, Kumi Nakaya, Ikumi Kanno, Kotaro Nochioka, Naho Tsuchiya, Takumi Hirata, Yohei Hamanaka, Junichi Sugawara, Tomoko Kobayashi, Nobuo Fuse, Akira Uruno, Eiichi N Kodama, Shinichi Kuriyama, Ichiro Tsuji, Atsushi Hozawa

    Journal of atherosclerosis and thrombosis　2022/11/04

    DOI： 10.5551/jat.63826 　

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    AIM: Impaired lung function is associated with atherosclerotic vascular events. Carotid intima-media thickness (cIMT) is a marker for subclinical atherosclerosis. However, few studies have examined the association between lung function and cIMT among never smokers or individuals stratified by age. We investigated the association between lung function and cIMT in the Japanese population. METHODS: We conducted a cross-sectional study of 3,716 men and 8,765 women aged 20 years or older living in Miyagi Prefecture, Japan. Lung function was evaluated using forced expiratory volume at 1 s (FEV1) and forced vital capacity (FVC) was measured using spirometry. The maximum common carotid artery was measured using high-resolution B-mode ultrasound. An analysis of covariance was used to assess associations between lung function and cIMT and adjusted for potential confounders. A linear trend test was conducted by scoring the categories from 1 (lowest) to 4 (highest) and entering the score as a continuous term in the regression model. RESULTS: After adjusting for potential confounders including passive smoking, lower FEV1 and FVC were associated with higher cIMT in both men and women (P＜0.001 for linear trend). This association was confirmed even when we restricted our study to never smokers. Furthermore, even when we stratified by age, an inverse association between lung function and cIMT was confirmed in middle-aged (40-64 years) and elderly participants (65-74 years). CONCLUSIONS: Lower lung function was associated with higher cIMT in the Japanese population independent of age and smoking. Assessment of atherosclerosis or lung function may be required for individuals with lower lung function or atherosclerosis.

  32. ゲノム医療実用化に係る知識・情報の新しい伝え方の開発と実践 Invited Peer-reviewed

    小林朋子

    BIO Clinica　37　(12)　78-79　2022/11

  33. Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy. International-journal Peer-reviewed

    Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu-Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-Ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Cinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto

    Genetics in medicine : official journal of the American College of Medical Genetics　24　(12)　2453-2463　2022/10/28

    DOI： 10.1016/j.gim.2022.08.007 　

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    PURPOSE: Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypoplasia and potentially improve their prognostic aspects. METHODS: Patients with CBHA in 176 families were genetically examined using exome sequencing. Patients with disease-causing variants were clinically evaluated. RESULTS: Disease-causing variants were identified in 96 of the 176 families (54.5%). After excluding 6 families, 48 patients from 42 families were categorized as having syndromic associations with CBHA, whereas the remaining 51 patients from 48 families had isolated CBHA. In 51 patients, 26 aberrant genes were identified, of which, 20 (76.9%) caused disease in 1 family each. The most prevalent genes were CACNA1A, ITPR1, and KIF1A. Of the 26 aberrant genes, 21 and 1 were functionally annotated to atrophy and hypoplasia, respectively. CBHA+S was more clinically severe than CBHA-S. Notably, ARG1 and FOLR1 variants were identified in 2 families, leading to medical treatments. CONCLUSION: A wide genetic and clinical diversity of CBHA was revealed through exome sequencing in this cohort, which highlights the importance of comprehensive genetic analyses. Furthermore, molecular-based treatment was available for 2 families.

  34. A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants. Peer-reviewed

    Kinuko Ohneda, Masahiro Hiratsuka, Hiroshi Kawame, Fuji Nagami, Yoichi Suzuki, Kichiya Suzuki, Akira Uruno, Mika Sakurai-Yageta, Yohei Hamanaka, Makiko Taira, Soichi Ogishima, Shinichi Kuriyama, Atsushi Hozawa, Hiroaki Tomita, Naoko Minegishi, Junichi Sugawara, Inaho Danjoh, Tomohiro Nakamura, Tomoko Kobayashi, Yumi Yamaguchi-Kabata, Shu Tadaka, Taku Obara, Eiji Hishimuma, Nariyasu Mano, Masaki Matsuura, Yuji Sato, Masateru Nakasone, Yohei Honkura, Jun Suzuki, Yukio Katori, Yoichi Kakuta, Atsushi Masamune, Yoko Aoki, Masaharu Nakayama, Shigeo Kure, Kengo Kinoshita, Nobuo Fuse, Masayuki Yamamoto

    JMA journal　5　(2)　177-189　2022/04/15

    DOI： 10.31662/jmaj.2021-0156 　

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    Introduction: Pharmacogenomic (PGx) testing results provide valuable information on drug selection and appropriate dosing, maximization of efficacy, and minimization of adverse effects. Although the number of large-scale, next-generation-sequencing-based PGx studies has recently increased, little is known about the risks and benefits of returning PGx results to ostensibly healthy individuals in research settings. Methods: Single-nucleotide variants of three actionable PGx genes, namely, MT-RNR1, CYP2C19, and NUDT15, were returned to 161 participants in a population-based Tohoku Medical Megabank project. Informed consent was obtained from the participants after a seminar on the outline of this study. The results were sent by mail alongside sealed information letter intended for clinicians. As an exception, genetic counseling was performed for the MT-RNR1 m.1555A > G variant carriers by a medical geneticist, and consultation with an otolaryngologist was encouraged. Questionnaire surveys (QSs) were conducted five times to evaluate the participants' understanding of the topic, psychological impact, and attitude toward the study. Results: Whereas the majority of participants were unfamiliar with the term PGx, and none had undergone PGx testing before the study, more than 80% of the participants felt that they could acquire basic PGx knowledge sufficient to understand their genomic results and were satisfied with their potential benefit and use in future prescriptions. On the other hand, some felt that the PGx concepts or terminology was difficult to fully understand and suggested that in-person return of the results was desirable. Conclusions: These results collectively suggest possible benefits of returning preemptive PGx information to ostensibly healthy cohort participants in a research setting.

  35. Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan International-journal Peer-reviewed

    Nobuo Fuse, Miyuki Sakurai, Ikuko N. Motoike, Kaname Kojima, Takako Takai-Igarashi, Naoki Nakaya, Naho Tsuchiya, Tomohiro Nakamura, Mami Ishikuro, Taku Obara, Akiko Miyazawa, Kei Homma, Keisuke Ido, Makiko Taira, Tomoko Kobayashi, Ritsuko Shimizu, Akira Uruno, Eiichi N. Kodama, Kichiya Suzuki, Yohei Hamanaka, Hiroaki Tomita, Junichi Sugawara, Yoichi Suzuki, Fuji Nagami, Soichi Ogishima, Fumiki Katsuoka, Naoko Minegishi, Atsushi Hozawa, Shinichi Kuriyama, Nobuo Yaegashi, Shigeo Kure, Kengo Kinoshita, Masayuki Yamamoto

    Ophthalmology Science　2　(1)　100113-100113　2022/03

    Publisher: Elsevier BV

    DOI： 10.1016/j.xops.2022.100113 　

    ISSN： 2666-9145

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    PURPOSE: To elucidate the differences in ocular biometric parameters by generation and gender and to identify axial length (AL)-associated genetic variants in Japanese individuals, we analyzed Tohoku Medical Megabank Organization (ToMMo) Eye Study data. DESIGN: We designed the ToMMo Eye Study, examined AL variations, and conducted genome-wide association studies (GWASs). PARTICIPANTS: In total, 33 483 participants aged > 18 years who were recruited into the community-based cohort (CommCohort) and the birth and three-generation cohort (BirThree Cohort) of the ToMMo Eye Study were examined. METHODS: Each participant was screened with an interview, ophthalmic examinations, and a microarray analysis. The GWASs were performed in 22 379 participants in the CommCohort (discovery stage) and 11 104 participants in the BirThree Cohort (replication stage). We evaluated the associations of single nucleotide polymorphisms (SNPs) with AL using a genome-wide significance threshold (5 × 10-8) in each stage of the study and in the subsequent meta-analysis. MAIN OUTCOME MEASURES: We identified the association of SNPs with AL and distributions of AL in right and left eyes and individuals of different sexes and ages. RESULTS: In the discovery stage, the mean AL of the right eye (23.99 mm) was significantly greater than that of the left eye (23.95 mm). This difference was reproducible across sexes and ages. The GWASs revealed 703 and 215 AL-associated SNPs with genome-wide significance in the discovery and validation stages, respectively, and many of the SNPs in the discovery stage were replicated in the validation stage. Validated SNPs and their associated loci were meta-analyzed for statistical significance (P < 5 × 10-8). This study identified 1478 SNPs spread over 31 loci. Of the 31 loci, 5 are known AL loci, 15 are known refractive-error loci, 4 are known corneal-curvature loci, and 7 loci are newly identified loci that are not known to be associated with AL. Of note, some of them shared functional relationships with previously identified loci. CONCLUSIONS: Our large-scale GWASs exploiting ToMMo Eye Study data identified 31 loci linked to variations in AL, 7 of which are newly reported in this article. The results revealed genetic heterogeneity and similarity in SNPs related to ethnic variations in AL.

  36. dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project. International-journal Peer-reviewed

    Soichi Ogishima, Satoshi Nagaie, Satoshi Mizuno, Ryosuke Ishiwata, Keita Iida, Kazuro Shimokawa, Takako Takai-Igarashi, Naoki Nakamura, Sachiko Nagase, Tomohiro Nakamura, Naho Tsuchiya, Naoki Nakaya, Keiko Murakami, Fumihiko Ueno, Tomomi Onuma, Mami Ishikuro, Taku Obara, Shunji Mugikura, Hiroaki Tomita, Akira Uruno, Tomoko Kobayashi, Akito Tsuboi, Shu Tadaka, Fumiki Katsuoka, Akira Narita, Mika Sakurai, Satoshi Makino, Gen Tamiya, Yuichi Aoki, Ritsuko Shimizu, Ikuko N Motoike, Seizo Koshiba, Naoko Minegishi, Kazuki Kumada, Takahiro Nobukuni, Kichiya Suzuki, Inaho Danjoh, Fuji Nagami, Kozo Tanno, Hideki Ohmomo, Koichi Asahi, Atsushi Shimizu, Atsushi Hozawa, Shinichi Kuriyama, Nobuo Fuse, Teiji Tominaga, Shigeo Kure, Nobuo Yaegashi, Kengo Kinoshita, Makoto Sasaki, Hiroshi Tanaka, Masayuki Yamamoto

    Human genome variation　8　(1)　44-44　2021/12/10

    DOI： 10.1038/s41439-021-00175-5 　

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    To reveal gene-environment interactions underlying common diseases and estimate the risk for common diseases, the Tohoku Medical Megabank (TMM) project has conducted prospective cohort studies and genomic and multiomics analyses. To establish an integrated biobank, we developed an integrated database called "dbTMM" that incorporates both the individual cohort/clinical data and the genome/multiomics data of 157,191 participants in the Tohoku Medical Megabank project. To our knowledge, dbTMM is the first database to store individual whole-genome data on a variant-by-variant basis as well as cohort/clinical data for over one hundred thousand participants in a prospective cohort study. dbTMM enables us to stratify our cohort by both genome-wide genetic factors and environmental factors, and it provides a research and development platform that enables prospective analysis of large-scale data from genome cohorts.

  37. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). International-journal Peer-reviewed

    Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas R Janecke, Anne Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, Klaas J Wierenga, Parul Jayakar, William A Gahl, Cynthia J Tifft, Luis E Figuera, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Ken Ishikawa, Tomoko Kobayashi, Yoko Aoki, Toshihiro Ohura, Hiroshi Kawame, Michihiro Kono, Kosuke Mochida, Chiho Tokorodani, Kiyoshi Kikkawa, Takayuki Morisaki, Tetsuyuki Kobayashi, Takaya Nakane, Akiharu Kubo, Judith D Ranells, Ohsuke Migita, Glenda Sobey, Anupriya Kaur, Masumi Ishikawa, Tomomi Yamaguchi, Naomichi Matsumoto, Fransiska Malfait, Noriko Miyake, Tomoki Kosho

    Journal of medical genetics　59　(9)　865-877　2021/11/23

    DOI： 10.1136/jmedgenet-2020-107623 　

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    BACKGROUND: Musculocontractural Ehlers-Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic variants, accurate prevalence of various manifestations and detailed natural history have not been systematically investigated. METHODS: We collected detailed and comprehensive clinical and molecular information regarding previously reported and newly identified patients with mcEDS-CHST14 through international collaborations. RESULTS: Sixty-six patients in 48 families (33 males/females; 0-59 years), including 18 newly reported patients, were evaluated. Japanese was the predominant ethnicity (27 families), associated with three recurrent variants. No apparent genotype-phenotype correlation was noted. Specific craniofacial (large fontanelle with delayed closure, downslanting palpebral fissures and hypertelorism), skeletal (characteristic finger morphologies, joint hypermobility, multiple congenital contractures, progressive talipes deformities and recurrent joint dislocation), cutaneous (hyperextensibility, fine/acrogeria-like/wrinkling palmar creases and bruisability) and ocular (refractive errors) features were observed in most patients (>90%). Large subcutaneous haematomas, constipation, cryptorchidism, hypotonia and motor developmental delay were also common (>80%). Median ages at the initial episode of dislocation or large subcutaneous haematoma were both 6 years. Nine patients died; their median age was 12 years. Several features, including joint and skin characteristics (hypermobility/extensibility and fragility), were significantly more frequent in patients with mcEDS-CHST14 than in eight reported patients with mcEDS-DSE. CONCLUSION: This first international collaborative study of mcEDS-CHST14 demonstrated that the subtype represents a multisystem disorder with unique set of clinical phenotypes consisting of multiple malformations and progressive fragility-related manifestations; these require lifelong, multidisciplinary healthcare approaches.

  38. Development of human genetics education tool for elementary school students Invited Peer-reviewed

    47　(11)　34-35　2021/11

  39. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. International-journal Peer-reviewed

    Hiroshi Kawame, Akimune Fukushima, Nobuo Fuse, Fuji Nagami, Yoichi Suzuki, Mika Sakurai-Yageta, Jun Yasuda, Yumi Yamaguchi-Kabata, Kengo Kinoshita, Soichi Ogishima, Takako Takai, Shinichi Kuriyama, Atsushi Hozawa, Naoki Nakaya, Tomohiro Nakamura, Naoko Minegishi, Junichi Sugawara, Kichiya Suzuki, Hiroaki Tomita, Akira Uruno, Tomoko Kobayashi, Yayoi Aizawa, Tomoharu Tokutomi, Kayono Yamamoto, Kinuko Ohneda, Shigeo Kure, Yoko Aoki, Hideki Katagiri, Yasushi Ishigaki, Shojiro Sawada, Makoto Sasaki, Masayuki Yamamoto

    Journal of human genetics　67　(1)　9-17　2021/07/08

    DOI： 10.1038/s10038-021-00952-8 　

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    Certain large genome cohort studies attempt to return the individual genomic results to the participants; however, the implementation process and psychosocial impacts remain largely unknown. The Tohoku Medical Megabank Project has conducted large genome cohort studies of general residents. To implement the disclosure of individual genomic results, we extracted the potential challenges and obstacles. Major challenges include the determination of genes/disorders based on the current medical system in Japan, the storage of results, prevention of misunderstanding, and collaboration of medical professionals. To overcome these challenges, we plan to conduct multilayer pilot studies, which deal with different disorders/genes. We finally chose familial hypercholesterolemia (FH) as a target disease for the first pilot study. Of the 665 eligible candidates, 33.5% were interested in the pilot study and provided consent after an educational "genetics workshop" on the basic genetics and medical facts of FH. The genetics professionals disclosed the results to the participants. All positive participants were referred to medical care, and a serial questionnaire revealed no significant psychosocial distress after the disclosure. Return of genomic results to research participants was implemented using a well-prepared protocol. To further elucidate the impact of different disorders, we will perform multilayer pilot studies with different disorders, including actionable pharmacogenomics and hereditary tumor syndromes.

  40. 臨床遺伝専門医テキスト① 臨床遺伝学総論 9. 遺伝医療とコミュニケーション B 医療者間コミュニケーション Invited

    小林 朋子

    診断と治療社　162-164　2021/07

  41. 臨床遺伝専門医テキスト① 臨床遺伝学総論 9. 遺伝医療とコミュニケーション A 遺伝医療に必要なコミュニケーションスキル Invited

    小林 朋子

    診断と治療社　159-161　2021/07

  42. 宮城県初の5歳児発達健診 ―東北メディカル・メガバンク計画 三世代コホート調査参加児対象の予備的調査― Invited Peer-reviewed

    小林 朋子

    発達支援学研究　1　(2)　57-61　2021/01

  43. Maternal Baseline Characteristics and Perinatal Outcomes: the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. Peer-reviewed

    Junichi Sugawara, Mami Ishikuro, Taku Obara, Tomomi Onuma, Keiko Murakami, Masahiro Kikuya, Fumihiko Ueno, Aoi Noda, Satoshi Mizuno, Tomoko Kobayashi, Yohei Hamanaka, Kichiya Suzuki, Eiichi Kodama, Naho Tsuchiya, Akira Uruno, Yoichi Suzuki, Osamu Tanabe, Hideyasu Kiyomoto, Akito Tsuboi, Atsushi Shimizu, Seizo Koshiba, Naoko Minegishi, Soichi Ogishima, Gen Tamiya, Hirohito Metoki, Atsushi Hozawa, Nobuo Fuse, Kengo Kinoshita, Shigeo Kure, Nobuo Yaegashi, Shinichi Kuriyama, Masayuki Yamamoto

    Journal of epidemiology　32　(2)　69-79　2020/10/10

    DOI： 10.2188/jea.JE20200338 　

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    BACKGROUND: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study was launched in 2013 to evaluate the complex interactions of genetic and environmental factors in multifactorial diseases. The present study describes the maternal baseline profile and perinatal data of participating mothers and infants. METHODS: Expectant mothers living in Miyagi prefecture were recruited from obstetric facilities or affiliated centers between 2013 and 2017. Three sets of self-administered questionnaires were collected, and the medical records were reviewed to obtain precise information about each antenatal visit and each delivery. Biospecimens, including blood, urine, umbilical cord blood, and breast milk, were collected for the study biobank. The baseline maternal sociodemographic characteristics, results of screening tests, and obstetric outcomes were analyzed according to the maternal age group. RESULTS: A total of 23 406 pregnancies involving 23 730 fetuses resulted in 23 143 live births. Younger maternal participants had a tendency toward a higher incidence of threatened abortion and threatened premature labor, while older age groups exhibited a significantly higher rate of low lying placenta, placenta previa, gestational diabetes and hypertensive disorders of pregnancy. CONCLUSIONS: The present study clearly shows the distribution of maternal baseline characteristics and the range of perinatal outcomes according to maternal age group. This cohort study can provide strategic information for creating breakthroughs in the pathophysiology of perinatal, developmental, and noncommunicable diseases by collaborative data visiting or sharing.

  44. Clustering by phenotype and genome-wide association study in autism. International-journal Peer-reviewed

    Akira Narita, Masato Nagai, Satoshi Mizuno, Soichi Ogishima, Gen Tamiya, Masao Ueki, Rieko Sakurai, Satoshi Makino, Taku Obara, Mami Ishikuro, Chizuru Yamanaka, Hiroko Matsubara, Yasutaka Kuniyoshi, Keiko Murakami, Fumihiko Ueno, Aoi Noda, Tomoko Kobayashi, Mika Kobayashi, Takuma Usuzaki, Hisashi Ohseto, Atsushi Hozawa, Masahiro Kikuya, Hirohito Metoki, Shigeo Kure, Shinichi Kuriyama

    Translational psychiatry　10　(1)　290-290　2020/08/17

    DOI： 10.1038/s41398-020-00951-x 　

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    Autism spectrum disorder (ASD) has phenotypically and genetically heterogeneous characteristics. A simulation study demonstrated that attempts to categorize patients with a complex disease into more homogeneous subgroups could have more power to elucidate hidden heritability. We conducted cluster analyses using the k-means algorithm with a cluster number of 15 based on phenotypic variables from the Simons Simplex Collection (SSC). As a preliminary study, we conducted a conventional genome-wide association study (GWAS) with a data set of 597 ASD cases and 370 controls. In the second step, we divided cases based on the clustering results and conducted GWAS in each of the subgroups vs controls (cluster-based GWAS). We also conducted cluster-based GWAS on another SSC data set of 712 probands and 354 controls in the replication stage. In the preliminary study, which was conducted in conventional GWAS design, we observed no significant associations. In the second step of cluster-based GWASs, we identified 65 chromosomal loci, which included 30 intragenic loci located in 21 genes and 35 intergenic loci that satisfied the threshold of P < 5.0 × 10-8. Some of these loci were located within or near previously reported candidate genes for ASD: CDH5, CNTN5, CNTNAP5, DNAH17, DPP10, DSCAM, FOXK1, GABBR2, GRIN2A5, ITPR1, NTM, SDK1, SNCA, and SRRM4. Of these 65 significant chromosomal loci, rs11064685 located within the SRRM4 gene had a significantly different distribution in the cases vs controls in the replication cohort. These findings suggest that clustering may successfully identify subgroups with relatively homogeneous disease etiologies. Further cluster validation and replication studies are warranted in larger cohorts.

  45. Behavioral problems and family distress in tuberous sclerosis complex. International-journal Peer-reviewed

    Mitsugu Uematsu, Yurika Numata-Uematsu, Yu Aihara, Tomoko Kobayashi, Mayu Fujikawa, Noriko Togashi, Takashi Shiihara, Kei Ohashi, Ayako Hattori, Shinji Saitoh, Shigeo Kure

    Epilepsy & behavior : E&B　111　107321-107321　2020/07/19

    DOI： 10.1016/j.yebeh.2020.107321 　

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    BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have a large impact on patients and their families. Improving intellectual ability outcomes using preventive vigabatrin (VGB) treatment has recently been reported. AIM: The aim of this study was to investigate the severity of behavioral problems and degree of distress among families of patients with TSC with and without a history of VGB treatment. METHOD: The study enrolled 21 children and adolescents who were patients with TSC from four hospitals: 14 in the VGB group and 7 in the no-VGB group. To evaluate patients' psychiatric and neurological symptoms, we used the TAND Checklist, Aberrant Behavior Checklist (ABC), Social Communication Questionnaire (SCQ), and Social Responsive Scale-2nd edition (SRS-2). RESULTS: All VGB-group patients were administered VGB after the onset of epileptic seizures. No obvious differences were observed between the VGB and no-VGB groups in behavioral problem scores on the TAND Checklist, or on the ABC, SCQ, and SRS-2 total scores. Behavioral problem scores were lower in patients with normal intelligence than in those with mild intellectual disability (ID; P = 0.042). Degrees of family distress assessed with the TAND Checklist were not correlated with the intelligence quotient/developmental quotient (IQ/DQ) or seizure frequency but were correlated with the total SRS-2 scores (P = 0.022). For several patients, there were large discrepancies between familial and physician ratings of the TAND impact score. CONCLUSION: Children and adolescents with TSC may present with significant behavioral difficulties and family distress, regardless of whether they were treated with VGB or not after the onset of seizures. Difficulties in social communication may have the strongest "TAND impact" on families.

  46. Defining the phenotype of FHF1 developmental and epileptic encephalopathy. International-journal Peer-reviewed

    Marina Trivisano, Alessandro Ferretti, Elizabeth Bebin, Linda Huh, Gaetan Lesca, Aleksandra Siekierska, Ryo Takeguchi, Maryline Carneiro, Luca De Palma, Ilaria Guella, Kazuhiro Haginoya, Ruo Ming Shi, Atsuo Kikuchi, Tomoko Kobayashi, Julien Jung, Lieven Lagae, Mathieu Milh, Marie L Mathieu, Berge A Minassian, Antonio Novelli, Nicola Pietrafusa, Eri Takeshita, Marco Tartaglia, Alessandra Terracciano, Michelle L Thompson, Gregory M Cooper, Federico Vigevano, Laurent Villard, Nathalie Villeneuve, Gunnar M Buyse, Michelle Demos, Ingrid E Scheffer, Nicola Specchio

    Epilepsia　61　(7)　e71-e78　2020/07/09

    DOI： 10.1111/epi.16582 　

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    Fibroblast growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates neuronal sodium channel gating. We aim to refine the electroclinical phenotypic spectrum of patients with pathogenic FHF1 variants. We retrospectively collected clinical, genetic, neurophysiologic, and neuroimaging data of 17 patients with FHF1-DEE. Sixteen patients had recurrent heterozygous FHF1 missense variants: 14 had the recurrent p.Arg114His variant and two had a novel likely pathogenic variant p.Gly112Ser. The p.Arg114His variant is associated with an earlier onset and more severe phenotype. One patient carried a chromosomal microduplication involving FHF1. Twelve patients carried a de novo variant, five (29.5%) inherited from parents with gonadic or somatic mosaicism. Seizure onset was between 1 day and 41 months; in 76.5% it was within 30 days. Tonic seizures were the most frequent seizure type. Twelve patients (70.6%) had drug-resistant epilepsy, 14 (82.3%) intellectual disability, and 11 (64.7%) behavioral disturbances. Brain magnetic resonance imaging (MRI) showed mild cerebral and/or cerebellar atrophy in nine patients (52.9%). Overall, our findings expand and refine the clinical, EEG, and imaging phenotype of patients with FHF1-DEE, which is characterized by early onset epilepsy with tonic seizures, associated with moderate to severe ID and psychiatric features.

  47. Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective. International-journal Peer-reviewed

    Shinichi Kuriyama, Hirohito Metoki, Masahiro Kikuya, Taku Obara, Mami Ishikuro, Chizuru Yamanaka, Masato Nagai, Hiroko Matsubara, Tomoko Kobayashi, Junichi Sugawara, Gen Tamiya, Atsushi Hozawa, Naoki Nakaya, Naho Tsuchiya, Tomohiro Nakamura, Akira Narita, Mana Kogure, Takumi Hirata, Ichiro Tsuji, Fuji Nagami, Nobuo Fuse, Tomohiko Arai, Yoshio Kawaguchi, Shinichi Higuchi, Masaki Sakaida, Yoichi Suzuki, Noriko Osumi, Keiko Nakayama, Kiyoshi Ito, Shinichi Egawa, Koichi Chida, Eiichi Kodama, Hideyasu Kiyomoto, Tadashi Ishii, Akito Tsuboi, Hiroaki Tomita, Yasuyuki Taki, Hiroshi Kawame, Kichiya Suzuki, Naoto Ishii, Soichi Ogishima, Satoshi Mizuno, Takako Takai-Igarashi, Naoko Minegishi, Jun Yasuda, Kazuhiko Igarashi, Ritsuko Shimizu, Masao Nagasaki, Osamu Tanabe, Seizo Koshiba, Hiroaki Hashizume, Hozumi Motohashi, Teiji Tominaga, Sadayoshi Ito, Kozo Tanno, Kiyomi Sakata, Atsushi Shimizu, Jiro Hitomi, Makoto Sasaki, Kengo Kinoshita, Hiroshi Tanaka, Tadao Kobayashi, Shigeo Kure, Nobuo Yaegashi, Masayuki Yamamoto

    International journal of epidemiology　49　(1)　18-19　2020/02/01

    DOI： 10.1093/ije/dyz169 　

    ISSN： 0300-5771

  48. Study profile of The Tohoku Medical Megabank Community-Based Cohort Study. Peer-reviewed

    Atsushi Hozawa, Kozo Tanno, Naoki Nakaya, Tomohiro Nakamura, Naho Tsuchiya, Takumi Hirata, Akira Narita, Mana Kogure, Kotaro Nochioka, Ryohei Sasaki, Nobuyuki Takanashi, Kotaro Otsuka, Kiyomi Sakata, Shinichi Kuriyama, Masahiro Kikuya, Osamu Tanabe, Junichi Sugawara, Kichiya Suzuki, Yoichi Suzuki, Eiichi N Kodama, Nobuo Fuse, Hideyasu Kiyomoto, Hiroaki Tomita, Akira Uruno, Yohei Hamanaka, Hirohito Metoki, Mami Ishikuro, Taku Obara, Tomoko Kobayashi, Kazuyuki Kitatani, Takako Takai-Igarashi, Soichi Ogishima, Mamoru Satoh, Hideki Ohmomo, Akito Tsuboi, Shinichi Egawa, Tadashi Ishii, Kiyoshi Ito, Sadayoshi Ito, Yasuyuki Taki, Naoko Minegishi, Naoto Ishii, Masao Nagasaki, Kazuhiko Igarashi, Seizo Koshiba, Ritsuko Shimizu, Gen Tamiya, Keiko Nakayama, Hozumi Motohashi, Jun Yasuda, Atsushi Shimizu, Tsuyoshi Hachiya, Yuh Shiwa, Teiji Tominaga, Hiroshi Tanaka, Kotaro Oyama, Ryoichi Tanaka, Hiroshi Kawame, Akimune Fukushima, Yasushi Ishigaki, Tomoharu Tokutomi, Noriko Osumi, Tadao Kobayashi, Fuji Nagami, Hiroaki Hashizume, Tomohiro Arai, Yoshio Kawaguchi, Shinichi Higuchi, Masaki Sakaida, Ryujin Endo, Satoshi Nishizuka, Ichiro Tsuji, Jiro Hitomi, Motoyuki Nakamura, Kuniaki Ogasawara, Nobuo Yaegashi, Kengo Kinoshita, Shigeo Kure, Akio Sakai, Seiichiro Kobayashi, Kenji Sobue, Makoto Sasaki, Masayuki Yamamoto

    Journal of epidemiology　31　(1)　65-76　2020/01/11

    DOI： 10.2188/jea.JE20190271 　

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    BackgroundWe established a community-based cohort study to assess the long-term impact of the Great East Japan Earthquake on disaster victims and gene-environmental interactions on the incidence of major diseases such as cancer and cardiovascular diseases.MethodsWe asked participants to join our cohort in the health check-up settings and assessment center based settings. Inclusion criteria was aged 20 years or over and living in Miyagi or Iwate Prefecture. We obtained information on lifestyle, effect of disaster, blood, and urine information (Type 1 survey), and some detailed measurements (Type 2 survey), for example, carotid echography, calcaneal ultrasound bone mineral density, and so on. All participants agreed to measure genome information and to distribute their information widely.ResultsAs a result, 87,865 gave their informed consent to join our study. Participation rate at health check-up site was about 70%. The participants with Type 1 survey were more likely to have psychological distress than those of Type 2 survey, and women were more likely to have psychological distress than men. Additionally, coastal residents were more likely to have higher degrees of psychological distress than inland residents regardless of sex.ConclusionThis cohort comprised large sample size and it contains information on disaster, genome information, and metabolome information. This cohort also had several detailed measurements. Using this cohort enabled us to clarify the long-term effect of disaster and also to establish personalized prevention based on genome, metabolome, and other omics information.

  49. 症例でわかる小児神経疾患の遺伝学的アプローチ 各論33 複数の複数の細胞遺伝学的検査の併用により診断が確定したマーカー染色体を有する成長障害と軽度知的障害を示す4歳男児 Invited Peer-reviewed

    菊池敦生, 小林 朋子

    診断と治療社　166-168　2019/12

  50. A training and education program for genome medical research coordinators in the genome cohort study of the Tohoku Medical Megabank Organization. International-journal Peer-reviewed

    Mika Sakurai-Yageta, Hiroshi Kawame, Shinichi Kuriyama, Atsushi Hozawa, Naoki Nakaya, Fuji Nagami, Naoko Minegishi, Soichi Ogishima, Takako Takai-Igarashi, Inaho Danjoh, Taku Obara, Mami Ishikuro, Tomoko Kobayashi, Yayoi Aizawa, Rino Ishihara, Masayuki Yamamoto, Yoichi Suzuki

    BMC medical education　19　(1)　297-297　2019/08/02

    DOI： 10.1186/s12909-019-1725-5 　

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    BACKGROUND: Genome cohort studies are used to analyze interactions between genetic and environmental factors, providing valuable information for personalized healthcare. Large-scale and long-term cohort studies require a number of specially trained personnel, of whom those involved in obtaining informed consent play a vital role, especially during the initial phase of such studies. The Japanese Society of Human Genetics (JSHG) previously established a certification system for genome medical research coordinators (GMRCs) responsible for obtaining written consent via face-to-face explanation. Meanwhile, in the Tohoku Medical Megabank Organization (ToMMo), GMRCs are expected to play important roles not only in obtaining informed consent and conducting various assessments, but also in communicating with participants throughout the long-term follow-up. Based on the JSHG program, we therefore developed a specific education and training program for ToMMo GMRCs consisting of 17 lectures, one practical training session on the informed consent procedure, and written and interview examinations. Re-education workshops aimed at self-improvement are also carried out following certification. In this study, we evaluated the education and training program in terms of overall understanding, usefulness, and satisfaction using an anonymous questionnaire. METHODS: An anonymous questionnaire addressing each aspect of the education and training program (understanding, usefulness, and satisfaction) was distributed among 152 qualified ToMMo GMRCs. Responses were received from 94 participants (61.8%). RESULTS: There was a significant association between the level of overall understanding of lectures and medical qualification (nurse or clinical laboratory technologist), but not with age or educational background. The level of understanding and overall usefulness were lower in sessions related to genetics and epidemiology than those dealing with ToMMo practices. In the re-education workshops, GMRCs showed a preference for and hoped to learn more about both background knowledge and research progress in the ToMMo. CONCLUSIONS: The results of our questionnaire suggest that not all ToMMo GMRCs are able to understand everything during the initial education and training program, especially in terms of genomic medicine. Continuous re-education is therefore vital in improving knowledge, skills and motivation, and preparing GMRCs for a specialist role in community-based personalized healthcare.

  51. Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods. International-journal Peer-reviewed

    Taku Obara, Mami Ishikuro, Gen Tamiya, Masao Ueki, Chizuru Yamanaka, Satoshi Mizuno, Masahiro Kikuya, Hirohito Metoki, Hiroko Matsubara, Masato Nagai, Tomoko Kobayashi, Machiko Kamiyama, Mikako Watanabe, Kazuhiko Kakuta, Minami Ouchi, Aki Kurihara, Naru Fukuchi, Akihiro Yasuhara, Masumi Inagaki, Makiko Kaga, Shigeo Kure, Shinichi Kuriyama

    Scientific reports　8　(1)　14840-14840　2018/10/04

    DOI： 10.1038/s41598-018-33110-w 　

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    We investigated whether machine learning methods could potentially identify a subgroup of persons with autism spectrum disorder (ASD) who show vitamin B6 responsiveness by selected phenotype variables. We analyzed the existing data from our intervention study with 17 persons. First, we focused on signs and biomarkers that have been identified as candidates for vitamin B6 responsiveness indicators. Second, we conducted hypothesis testing among these selected variables and their combinations. Finally, we further investigated the results by conducting cluster analyses with two different algorithms, affinity propagation and k-medoids. Statistically significant variables for vitamin B6 responsiveness, including combination of hypersensitivity to sound and clumsiness, and plasma glutamine level, were included. As an a priori variable, the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) scores was also included. The affinity propagation analysis showed good classification of three potential vitamin B6-responsive persons with ASD. The k-medoids analysis also showed good classification. To our knowledge, this is the first study to attempt to identify subgroup of persons with ASD who show specific treatment responsiveness using selected phenotype variables. We applied machine learning methods to further investigate these variables' ability to identify this subgroup of ASD, even when only a small sample size was available.

  52. Development and Practice of new method to expert knowledge and information to convey on the practical application of genome medicine Peer-reviewed

    KOBAYASHI Tomoko, KANO Kei, KAWAKAMI Masahiro, NAGAMI Fuji

    Proceedings of the Annual Meeting of Japan Society for Science Education　42　(0)　309-310　2018

    Publisher: Japan Society for Science Education

    DOI： 10.14935/jssep.42.0_309 　

    ISSN： 2186-3628

  53. Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation. International-journal Peer-reviewed

    Naomi Hino-Fukuyo, Atsuo Kikuchi, Masaki Iwasaki, Yuko Sato, Yuki Kubota, Tomoko Kobayashi, Tojo Nakayama, Kazuhiro Haginoya, Natsuko Arai-Ichinoi, Tetsuya Niihori, Ryo Sato, Tasuku Suzuki, Hiroki Kudo, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure

    Brain & development　39　(4)　337-340　2017/04

    DOI： 10.1016/j.braindev.2016.11.006 　

    ISSN： 0387-7604

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    We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. Following a presurgical evaluation for epilepsy, she underwent a functional hemispherectomy. She has been seizure free with no intracranial hemorrhage or other perioperative complications. Patients with a COL4A1 mutation have an increased risk for intracranial hemorrhage because of disrupted integrity in the vascular basement membrane due to the mutation. After weighing the risks and benefits to these patients, epilepsy surgery may not be absolutely contraindicated. Furthermore, pediatric neurologists should be aware of an undiagnosed COL4A1 mutation when a patient presents with an unexplained neurological phenotype, such as mild hemiparesis, even in the absence of porencephaly.

  54. Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving FGF12. Peer-reviewed

    Shi RM, Kobayashi T, Kikuchi A, Sato R, Uematsu M, An K, Kure S

    Neurology. Genetics　3　(1)　e133　2017/02

    DOI： 10.1212/NXG.0000000000000133 　

  55. Efficacy of vigabatrin therapy for tuberous sclerosis with infantile spasms. Peer-reviewed

    Suzuki-Muromoto,S, Uematsu M, Sato H, Numata-Uematsu Y, Nakayama T, Kiluchi A, Kobayashi T, Hino-Fukuyo N, Kure S

    No to hattatsu = Brain and development　48　(6)　413-419　2016/11

    ISSN： 0029-0831

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    Objective: To evaluate the effects and tolerability of vigabatrin (VGB) in children with tuberous sclerosis (TS) with infantile spasms or tonic seizures. Methods: We examined the impact of VGB on a series of 17 children with TS visiting Tohoku University Hospital in Japan during April 2010 and May 2015. To minimize potential adverse effects, VGB was given to the patients for limited 6 months with titration from 30 mg/kg/day as an initial dose. Results: Main seizure types were classified into spasms (n=10) or tonic seizures (n=7). Seizure reduction was positively associated with seizure type of infantile spasms, lower maximum dosage, younger age on VGB administration, and earlier VGB treatment after the diagnosis. Seizure type of infantile spasm was an independent favorable predictor and also associated with long-term seizure reduction. Major adverse events included psychiatric symptoms (n=7) and electroretinogram (ERG) abnormalities (n=2). All symptoms were recovered by reducing the dosage of VGB. Conclusion: VGB is effective and well tolerated as first-line treatment for TS children with infantile spasms. Our “low dosage and limited period” protocol is efficient for improving seizure control as well as minimizing the potential risks of VGB.

  56. Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus Peer-reviewed

    Yuko Sato, Yurika Numata-Uematsu, Mitsugu Uematsu, Atsuo Kikuchi, Tojo Nakayama, Yosuke Kakisaka, Tomoko Kobayashi, Naomi Hino-Fukuyo, Hiroyoshi Suzuki, Yukitoshi Takahashi, Yoshiaki Saito, Naoyuki Tanuma, Masaharu Hayashi, Masaki Iwasaki, Kazuhiro Haginoya, Shigeo Kure

    BRAIN & DEVELOPMENT　38　(8)　772-776　2016/09

    DOI： 10.1016/j.braindev.2016.02.006 　

    ISSN： 0387-7604

    eISSN： 1872-7131

  57. Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan Peer-reviewed

    Yu Katata, Mitsugu Uematsu, Hiroki Sato, Sato Suzuki, Tojo Nakayama, Yuki Kubota, Tomoko Kobayashi, Naomi Hino-Fukuyo, Hirotomo Saitsu, Shigeo Kure

    BRAIN & DEVELOPMENT　38　(3)　341-345　2016/03

    DOI： 10.1016/j.braindev.2015.09.008 　

    ISSN： 0387-7604

    eISSN： 1872-7131

  58. FDG-PET study of patients with Leigh syndrome Peer-reviewed

    Kauzhiro Haginoya, Tomohiro Kaneta, Noriko Togashi, Naomi Hino-Fukuyo, Tomoko Kobayashi, Mitsugu Uematsu, Taro Kitamura, Takehiko Inui, Yukimune Okubo, Yusuke Takezawa, Mai Anzai, Wakaba Endo, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto, Shigeo Kure

    JOURNAL OF THE NEUROLOGICAL SCIENCES　362　309-313　2016/03

    DOI： 10.1016/j.jns.2016.02.008 　

    ISSN： 0022-510X

    eISSN： 1878-5883

  59. Clinical features and long-term outcome of a group of Japanese children with inflammatory central nervous system disorders and seropositivity to myelin-oligodendrocyte glycoprotein antibodies Peer-reviewed

    Naomi Hino-Fukuyo, Kazuhiro Haginoya, Ichiro Nakashima, Douglas Kazutoshi Sato, Toshiyuki Takahashi, Tatsuro Misu, Kazuo Fujihara, Mieko Hirose, Yosuke Kakisaka, Mitsugu Uematsu, Tomoko Kobayashi, Shigeo Kure

    BRAIN & DEVELOPMENT　37　(9)　849-852　2015/10

    DOI： 10.1016/j.braindev.2015.02.006 　

    ISSN： 0387-7604

    eISSN： 1872-7131

  60. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. International-journal Peer-reviewed

    Naomi Hino-Fukuyo, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Tetsuya Niihori, Ryo Sato, Tasuku Suzuki, Hiroki Kudo, Yuko Sato, Tojo Nakayama, Yosuke Kakisaka, Yuki Kubota, Tomoko Kobayashi, Ryo Funayama, Keiko Nakayama, Mitsugu Uematsu, Yoko Aoki, Kazuhiro Haginoya, Shigeo Kure

    Human genetics　134　(6)　649-58　2015/06

    DOI： 10.1007/s00439-015-1553-6 　

    ISSN： 0340-6717

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    West syndrome, which is narrowly defined as infantile spasms that occur in clusters and hypsarrhythmia on EEG, is the most common early-onset epileptic encephalopathy (EOEE). Patients with West syndrome may have clear etiologies, including perinatal events, infections, gross chromosomal abnormalities, or cases followed by other EOEEs. However, the genetic etiology of most cases of West syndrome remains unexplained. DNA from 18 patients with unexplained West syndrome was subjected to microarray-based comparative genomic hybridization (array CGH), followed by trio-based whole-exome sequencing in 14 unsolved families. We identified candidate pathogenic variants in 50% of the patients (n = 9/18). The array CGH revealed candidate pathogenic copy number variations in four cases (22%, 4/18), including an Xq28 duplication, a 16p11.2 deletion, a 16p13.1 deletion and a 19p13.2 deletion disrupting CACNA1A. Whole-exome sequencing identified candidate mutations in known epilepsy genes in five cases (36%, 5/14). Three candidate de novo mutations were identified in three cases, with two mutations occurring in two new candidate genes (NR2F1 and CACNA2D1) (21%, 3/14). Hemizygous candidate mutations in ALG13 and BRWD3 were identified in the other two cases (14%, 2/14). Evaluating a panel of 67 known EOEE genes failed to identify significant mutations. Despite the heterogeneity of unexplained West syndrome, the combination of array CGH and whole-exome sequencing is an effective means of evaluating the genetic background in unexplained West syndrome. We provide additional evidence for NR2F1 as a causative gene and for CACNA2D1 and BRWD3 as candidate genes for West syndrome.

  61. Efficacy of long term weekly ACTH therapy for intractable epilepsy Peer-reviewed

    Takehiko Inui, Tomoko Kobayashi, Satoru Kobayashi, Ryo Sato, Wakaba Endo, Atsuo Kikuchi, Tojo Nakayama, Mitsugu Uematsu, Masaru Takayanagi, Mitsuhiro Kato, Hirotomo Saitsu, Naomichi Matsumoto, Shigeo Kure, Kazuhiro Haginoya

    BRAIN & DEVELOPMENT　37　(4)　449-454　2015/04

    DOI： 10.1016/j.braindev.2014.07.004 　

    ISSN： 0387-7604

    eISSN： 1872-7131

  62. RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy Peer-reviewed

    Tojo Nakayama, Hirotomo Saitsu, Wakaba Endo, Atsuo Kikuchi, Mitsugu Uematsu, Kazuhiro Haginoya, Naomi Hino-fukuyo, Tomoko Kobayashi, Masaki Iwasaki, Teiji Tominaga, Shigeo Kure, Naomichi Matsumoto

    BRAIN & DEVELOPMENT　36　(6)　532-536　2014/06

    DOI： 10.1016/j.braindev.2013.07.009 　

    ISSN： 0387-7604

    eISSN： 1872-7131

  63. A Case of Infant Botulism Infection due to Consumption of Untreated Well-Water Peer-reviewed

    Tomoko Kobayashi, Kazuhiro Haginoya, Tetsuji Morimoto, Takashi Hatakeyama, Shigeru Tsuchiya

    JOURNAL OF PEDIATRICS　164　(4)　931-933　2014/04

    DOI： 10.1016/j.jpeds.2013.11.044 　

    ISSN： 0022-3476

    eISSN： 1097-6833

  64. Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation Peer-reviewed

    Hiroki Sato, Mitsugu Uematsu, Wakaba Endo, Tojo Nakayama, Tomoko Kobayashi, Naomi Hino-Fukuyo, Osamu Sakamoto, Haruo Shintaku, Shigeo Kure

    BRAIN & DEVELOPMENT　36　(3)　268-271　2014/03

    DOI： 10.1016/j.braindev.2013.04.003 　

    ISSN： 0387-7604

    eISSN： 1872-7131

  65. Periodic eye movements and epileptic spasms in west syndrome Peer-reviewed

    Yosuke Kakisaka, Tomoko Kobayashi, Naomi Hino-Fukuyo, Mitsugu Uematsu, Yurika Numata, Masato Mori, Shigeo Kure

    Journal of Child Neurology　28　(11)　1483-1484　2013/11

    DOI： 10.1177/0883073813489169 　

    ISSN： 0883-0738 1708-8283

    eISSN： 1708-8283

  66. The usefulness of subtraction ictal SPECT and ictal near-infrared spectroscopic topography in patients with West syndrome Peer-reviewed

    Kazuhiro Haginoya, Mitsugu Uematsu, Mitsutoshi Munakata, Yosuke Kakisaka, Atsuo Kikuchi, Tojo Nakayama, Naomi Hino-Fukuyo, Rie Tsuburaya, Taro Kitamura, Ikuko Sato-Shirai, Yu Abe, Yoko Matsumoto, Keisuke Wakusawa, Tomoko Kobayashi, Mamiko Ishitobi, Noriko Togashi, Masaki Iwasaki, Nobukazu Nakasato, Kazuie Iinuma

    BRAIN & DEVELOPMENT　35　(10)　887-893　2013/11

    DOI： 10.1016/j.braindev.2013.08.011 　

    ISSN： 0387-7604

    eISSN： 1872-7131

  67. Parental satisfaction and seizure outcome after corpus callosotomy in patients with infantile or early childhood onset epilepsy Peer-reviewed

    Masaki Iwasaki, Mitsugu Uematsu, Tojo Nakayama, Naomi Hino-Fukuyo, Yuko Sato, Tomoko Kobayashi, Kazuhiro Haginoya, Shin-ichiro Osawa, Kazutaka Jin, Nobukazu Nakasato, Teiji Tominaga

    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY　22　(4)　303-305　2013/05

    DOI： 10.1016/j.seizure.2013.01.005 　

    ISSN： 1059-1311

  68. Extremely low-dose vigabatrin for West syndrome with tuberous sclerosis Peer-reviewed

    Naomi Hino-Fukuyo, Yuko Sato, Yosuke Kakisaka, Wakaba Endo, Yuki Kubota, Atsuo Kikuchi, Tomoko Kobayashi, Kazuhiro Haginoya, Mitsugu Uematsu, Yurika Numata, Hiroshi Doi, Masato Mori, Hitoshi Osaka, Shigeo Kure

    Journal of Pediatric Epilepsy　2　(4)　255-258　2013

    DOI： 10.3233/PEP-14064 　

    ISSN： 2146-4588 2146-457X

  69. Utility of Thallium-201 Scintigraphy in Tolosa-Hunt Syndrome Peer-reviewed

    Yosuke Kakisaka, Tomoko Kobayashi, Mitsugu Uematsu, Yurika Numata, Mieko Hirose, Naomi Hino-Fukuyo, Shigeru Tsuchiya, Hiroshi Doi, Hiroshi Fukuda, Shigeo Kure

    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE　229　(1)　83-86　2013/01

    DOI： 10.1620/tjem.229.83 　

    ISSN： 0040-8727

    eISSN： 1349-3329

  70. Hallucinations associated with cerebrospinal fluid leakage after a lumbar puncture. Peer-reviewed

    Kakisaka Y, Hino-Fukuyo N, Kobayashi T, Kubota Y, Kikuchi A, Endo W, Sato Y, Kawashima S, Kure S

    British journal of anaesthesia　109　(3)　465-6; author reply 466　2012/09

    DOI： 10.1093/bja/aes290 　

    ISSN： 0007-0912

  71. Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome Peer-reviewed

    Mitsugu Uematsu, Kazuhiro Haginoya, Atsuo Kikuchi, Tojo Nakayama, Yousuke Kakisaka, Yurika Numata, Tomoko Kobayashi, Naomi Hino-Fukuyo, Ikuma Fujiwara, Shigeo Kure

    JOURNAL OF THE NEUROLOGICAL SCIENCES　315　(1-2)　77-81　2012/04

    DOI： 10.1016/j.jns.2011.11.025 　

    ISSN： 0022-510X

  72. 咽頭筋麻痺を認めない咽頭頸部上腕型Guillain-Barre症候群の1例 Peer-reviewed

    沼田 有里佳, 植松 貢, 福與 なおみ, 柿坂 庸介, 小林 朋子, 廣瀬 三恵子, 萩野谷 和裕, 土屋 滋

    脳と発達　43　(6)　482-485　2011/11

    Publisher: (一社)日本小児神経学会

    DOI： 10.11251/ojjscn.43.482 　

    ISSN： 0029-0831

    eISSN： 1884-7668

  73. Implications of Prenatal Diagnosis of the Fetus With Both Interstitial Deletion and a Small Marker Ring Originating From Chromosome 5 Peer-reviewed

    Hiroyasu Ohashi, Kaoru Suzumori, Yasushi Chisaka, Shinichi Sonta, Tomoko Kobayashi, Yoko Aoki, Yoichi Matsubara, Michiko Sone, Lisa G. Shaffer

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A　155A　(1)　192-196　2011/01

    DOI： 10.1002/ajmg.a.33764 　

    ISSN： 1552-4825

  74. Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly Peer-reviewed

    Mitsugu Uematsu, Kazuhiro Haginoya, Noriko Togashi, Naomi Hino-Fukuyo, Tojo Nakayama, Atsuo Kikuchi, Yu Abe, Keisuke Wakusawa, Yoko Matsumoto, Yosuke Kakisaka, Tomoko Kobayashi, Mieko Hirose, Hiroyuki Yokoyama, Kazuie Iinuma, Masaki Iwasaki, Nobukazu Nakasato, Tomohiro Kaneta, Manami Akasaka, Atsushi Kamei, Shigeru Tsuchiya

    EPILEPSY RESEARCH　92　(2-3)　201-208　2010/12

    DOI： 10.1016/j.eplepsyres.2010.09.010 　

    ISSN： 0920-1211

    eISSN： 1872-6844

  75. NKX2.1遺伝子に新規遺伝子変異を認めたbrain-lung-thyroid syndromeの2症例について

    植松 貢, 萩野谷 和裕, 菊池 敦生, 廣瀬 三恵子, 小林 朋子, 福與 なおみ, 柿坂 庸介, 沼田 有里佳, 土屋 滋

    脳と発達　42　(Suppl.)　S220-S220　2010/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  76. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. International-journal Peer-reviewed

    Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, Hélène Cavé, Alain Verloes, Nobuhiko Okamoto, Hiroshi Kawame, Ikuma Fujiwara, Fumio Takada, Takako Ohata, Satoru Sakazume, Tatsuya Ando, Noriko Nakagawa, Pablo Lapunzina, Antonio G Meneses, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Kenji Kurosawa, Seiji Mizuno, Hirofumi Ohashi, Albert David, Nicole Philip, Afag Guliyeva, Yoko Narumi, Shigeo Kure, Shigeru Tsuchiya, Yoichi Matsubara

    Human mutation　31　(3)　284-94　2010/03

    DOI： 10.1002/humu.21187 　

    ISSN： 1059-7794

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    Noonan syndrome (NS) and related disorders are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. The dysregulation of the RAS/MAPK pathway appears to be a common molecular pathogenesis of these disorders: mutations in PTPN11, KRAS, and SOS1 have been identified in patients with NS, those in KRAS, BRAF, MAP2K1, and MAP2K2 in patients with CFC syndrome, and those in HRAS mutations in Costello syndrome patients. Recently, mutations in RAF1 have been also identified in patients with NS and two patients with LEOPARD (multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome. In the current study, we identified eight RAF1 mutations in 18 of 119 patients with NS and related conditions without mutations in known genes. We summarized clinical manifestations in patients with RAF1 mutations as well as those in NS patients withPTPN11, SOS1, or KRAS mutations previously reported. Hypertrophic cardiomyopathy and short stature were found to be more frequently observed in patients with RAF1 mutations. Mutations in RAF1 were clustered in the conserved region 2 (CR2) domain, which carries an inhibitory phosphorylation site (serine at position 259; S259). Functional studies revealed that the RAF1 mutants located in the CR2 domain resulted in the decreased phosphorylation of S259, and that mutant RAF1 then dissociated from 14-3-3, leading to a partial ERK activation. Our results suggest that the dephosphorylation of S259 is the primary pathogenic mechanism in the activation of RAF1 mutants located in the CR2 domain as well as of downstream ERK.

  77. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. International-journal Peer-reviewed

    Yoko Narumi, Yoko Aoki, Tetsuya Niihori, Masahiro Sakurai, Hélène Cavé, Alain Verloes, Kimio Nishio, Hirofumi Ohashi, Kenji Kurosawa, Nobuhiko Okamoto, Hiroshi Kawame, Seiji Mizuno, Tatsuro Kondoh, Marie-Claude Addor, Anne Coeslier-Dieux, Catherine Vincent-Delorme, Koichi Tabayashi, Masashi Aoki, Tomoko Kobayashi, Afag Guliyeva, Shigeo Kure, Yoichi Matsubara

    Journal of human genetics　53　(9)　834-41　2008

    DOI： 10.1007/s10038-008-0320-0 　

    ISSN： 1434-5161

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    Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and mental retardation. There is a significant clinical overlap between NS and CFC syndrome, but ectodermal abnormalities and mental retardation are more frequent in CFC syndrome. Mutations in PTPN11 and KRAS have been identified in patients with NS and those in KRAS, BRAF and MAP2K1/2 have been identified in patients with CFC syndrome, establishing a new role of the RAS/MAPK pathway in human development. Recently, mutations in the son of sevenless gene (SOS1) have also been identified in patients with NS. To clarify the clinical spectrum of patients with SOS1 mutations, we analyzed 24 patients with NS, including 3 patients in a three-generation family, and 30 patients with CFC syndrome without PTPN11, KRAS, HRAS, BRAF, and MAP2K1/2 (MEK1/2) mutations. We identified two SOS1 mutations in four NS patients, including three patients in the above-mentioned three-generation family. In the patients with a CFC phenotype, three mutations, including a novel three amino-acid insertion, were identified in one CFC patient and two patients with both NS and CFC phenotypes. These three patients exhibited ectodermal abnormalities, such as curly hair, sparse eyebrows, and dry skin, and two of them showed mental retardation. Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome.

  78. 無熱性けいれんを主訴に来院した水中毒の2症例 乳幼児の水分補給指導の重要性 Peer-reviewed

    小林 朋子, 桑原 健太郎, 上砂 光裕, 今井 大洋, 藤野 修, 福永 慶隆

    小児保健研究　65　(4)　577-584　2006/07

    Publisher: (公社)日本小児保健協会

    ISSN： 0037-4113

    eISSN： 2433-2046

  79. アミトリプチリン(トリプタノール)経口投与が著効した周期性ACTH・ADH放出症候群の1例 Peer-reviewed

    小林 朋子, 木村 武司, 鈴木 力生, 圓谷 理恵, 佐藤 美佳, 佐古 恩, 早坂 薫, 箕浦 貴則, 近岡 秀二, 高柳 勝, 山本 克哉, 大竹 正俊

    仙台市立病院医学雑誌　26　55-59　2006/06

    Publisher: 仙台市立病院

    ISSN： 0388-8878

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    2歳1ヵ月の女児。患者は数日間持続する嘔吐発作を主訴に入退院を繰り返していた。嘔吐発作中には血圧上昇、乏尿、傾眠傾向を認め、嘔吐抑制目的でドンペリドン坐薬やジアゼパム坐薬、ヒドロキシジン静注など使用した。しかし、いずれも効果がなく、自然軽快した。嘔吐発作出現時のACTH、ADH、コルチゾールを測定した結果、発作出現直後にいずれも異常高値を示した。また、嘔吐発作中はADH分泌不適切症候群類似の病態を示したが、全身検索では異常所見はみられなかった。以上より、本症例は周期性ACTH・ADH放出症候群と診断し、アミトリプチリンの経口投与が著効した。

  80. Two Cases of Adult Down Syndrome Treated with Selective Serotonin Re-Uptake Inhibitor for Behavior Disorders Peer-reviewed

    Hirayama Tsunenori, Kobayashi Tomoko, Fujita Takehisa, Fujino Osamu

    NO TO HATTATSU　36　(5)　391-394　2004

    Publisher: The Japanese Society of Child Neurology

    DOI： 10.11251/ojjscn1969.36.391 　

    ISSN： 1884-7668

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    Adult patients with Down syndrome show psychological symptoms and early senility. Improving their environment and dealing with their complaints and stress should first address their behavioral problems, such as self-injury, depression, aggression and outbursts. Pharmacological treatment may also be tried for behavioral disorders. Individuals with Down syndrome demonstrate neurotransmitter changes such as the loss of acetylcholine, norepinephrine, and serotonin (5-HT) with increasing age. Selective serotonin re-uptake inhibitor (SSRI) is effective for depression and panic disorders.<BR>We report here the effect of SSRI in two adult male patients with Down syndrome, 35 and 47 years of age. Selfinjury in one case and aggression and outbursts in another improved after 1 week of fluvoxamine treatment, suggesting the effects of SSRI for behavioral disorders of adult Down syndrome.

  81. 極低出生体重児における左室壁応力・心筋短縮速度の経時的変化と肺出血・脳室内出血・脳室周囲白質軟化症の関連性について

    豊島 勝昭, 川滝 元良, 渡辺 達也, 佐藤 義朗, 難波 由喜子, 小林 朋子, 松井 潔, 星野 陸夫, 大山 牧子, 猪谷 泰史, 後藤 彰子, 康井 制洋, 中澤 誠

    日本未熟児新生児学会雑誌　15　(3)　355-356　2003/11

    Publisher: (公社)日本新生児成育医学会

    ISSN： 1347-8540

  82. Correlation between neopterin, biopterin and nitrite/nitrate in cerebrospinal fluid in child patients with neurological diseases Peer-reviewed

    Yasuhiko Kawakami, Mayuko Sakamoto, Ken-ichi Shimada, Eiji Noguchi, Kentaro Kuwabara, Tomoko Fukui-Kobayashi, Kazuhiko Shirota, Ko-ichi Ogawa, Takehisa Fujita, Osamu Fujino, Shuji Kojima, Yoshitaka Fukunaga

    Pteridines　14　(1)　5-8　2003

    Publisher: International Society of Pteridinology

    DOI： 10.1515/pteridines.2003.14.1.5 　

    ISSN： 0933-4807

  83. 麻疹合併妊娠による双胎一児胎内死亡 Peer-reviewed

    福井 朋子, 星野 陸夫, 大山 牧子, 佐藤 義朗, 難波 由喜子, 豊島 勝昭, 松井 潔, 川滝 元良, 猪谷 泰史, 加藤 啓輔

    こども医療センター医学誌　30　(1)　39-42　2001/01

    Publisher: 神奈川県立こども医療センター

    ISSN： 0301-2654

Show all ︎Show first 5

Misc. 177

  1. 自然科学（主に生物学）への論理的思考力や創造性を育むための「ICTを活用した小学生向けヒト遺伝学教育用教材パッケージ」開発 Peer-reviewed

    小林朋子, 赤江里香, 小室安子, 椎名慶, 清岡佳江, 阿部英徳

    日本生物教育学会 第109回全国大会　2025/03/16

  2. A study of practical application of Instrument to Assess Children's Assent (IACA): Explanation support ICT materials and other factors related to assent of children participating in genome analysis research Peer-reviewed

    Izumi Ishiyama, Tomoko Kobayashi

    ASHG（American Society of Human Genetics）　2024/11

  3. Effectiveness and usability of 'Ninshiru.jp', a website about pregnancy, childbirth, and prenatal testing

    諸隈史香, 江川真希子, 西垣昌和, 浜之上はるか, 増崎英明, 三浦清徳, 小林朋子, 吉田雅幸

    日本人類遺伝学会第69回大会　2024/10

  4. ゲノム医療をテーマにした課外授業の展開

    西川洋史, 小林朋子

    日本生物教育会（ＪＡＢＥ）第78回全国大会　2024/08

  5. ゲノム解析研究のためのインフォームド・アセント補助資材「モノクロゲノム」：開発と評価に関する研究 Peer-reviewed

    小林朋子, 酒井聡, 澤口俊輔, 石山 ゐづ美, 工藤与志文, 浅井篤

    日本遺伝カウンセリング学会誌　45　(2)　161　2024/08

  6. A combined genetic and clinical risk scores for the prevalence of atrial fibrillation

    時岡 紗由理, 髙瀬 雅仁, 畑中 里衣子, 中谷 直樹, 中谷 久美, 千葉 一平, 小暮 真奈, 後岡 広太郎, 薄田 海, 大類 正嗣, 宇留野 晃, 小林 朋子, 児玉 栄一, 濱中 洋平, 布施 昇男, 寳澤 篤

    第70回 日本不整脈心電学会学術集会　2024/07

  7. 全ゲノム解析研究のためのインフォームド・アセント補助資材：モノクロゲノム®開発 Peer-reviewed

    小林朋子, 酒井聡, 澤口俊輔, 石山 ゐづ美, 工藤与志文, 浅井篤

    脳と発達　56　S261　2024/05

  8. The association of urinary sodium potassium ratio and estimated urinary sodium excretion with atrial fibrillation among participants without hypertension treatment

    Sayuri Tokioka, Naoki Nakaya, Rieko Hatanaka, Kumi Nakaya, Ippei Chiba, Mana Kogure, Kotaro Nochioka, Masatsugu Orui, Akira Uruno, Tomoko Kobayashi, Eiichi Kodama, Yohei Hamanaka, Nobuo Fuse, Atsushi Hozawa

    日本循環器学会学術集会　2024/03

  9. 尿中ナトリウム/カリウム比と心房細動の関連の検討

    時岡紗由理, 中谷直樹, 畑中里衣子, 中谷久美, 千葉一平, 小暮真奈, 大類正嗣, 宇留野晃, 小林朋子, 児玉栄一, 濱中洋平, 布施昇男, 寳澤篤

    日本疫学会誌　2024/02

  10. Returning individual genomic results to population-based cohort study participants with pathogenic variants in hereditary cancer syndrome

    Kinuko Ohneda, Yoichi Suzuki, Yohei Hamanaka, Hiroshi Kawame, Nobuo Fuse, Fuji Nagami, Tomoko Kobayashi, Masanobu Takahashi, Muneaki Shimada, Masayuki Yamamoto

    日本人類遺伝学会第68回大会・Human Genetics Asia 2023合同開催　2023/10

  11. Needs survey for materials to obtain informed assents from children participating in whole-genome analysis research Peer-reviewed

    2023/10

  12. 出生前検査を含む妊娠・出産に関する情報提供サイト「妊知る.jp」の有効性・使用感調査 Peer-reviewed

    諸隈史香, 江川真希子, 西垣昌和, 浜之上はるか, 増崎英明, 三浦清徳, 小林朋子, 吉田雅幸

    日本遺伝カウンセリング学会誌　44　(2)　110　2023/06

  13. 「ゲノム・遺伝子解析研究」ってどんな研究？ 連載コラム その２ ～ゲノム・遺伝子解析研究の意義～ Invited

    小林朋子

    mucだより　19　5-6　2023/05

  14. 「ゲノム・遺伝子解析研究」ってどんな研究？ 連載コラム その１ ～ゲノム・遺伝子とは？～ Invited

    小林朋子

    mucだより　18　5-6　2022/12

  15. 小児科医と小学校教諭で開発した,ヒト遺伝学教育に基づく「健康と命の大切さを育む」教材

    小林 朋子, 多田 博茂, 工藤 良幸, 仙台市小学校教育研究会理科研究部会

    日本小児科学会雑誌　126　(2)　311-311　2022/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  16. 宮城県初の5歳児発達健診 東北メディカル・メガバンク計画における三世代コホート調査参加児を対象とする予備的調査

    小林 朋子, 小林 美佳, 栗山 進一, 呉 繁夫

    脳と発達　52　(Suppl.)　S297-S297　2020/08

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  17. 幼児〜小学校低学年とその家族を対象とするヒト遺伝学教育ツールの開発

    小林 朋子, 川目 裕, 鈴木 洋一

    日本小児科学会雑誌　124　(2)　462-462　2020/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  18. 発達障害研究 東北メディカル・メガバンク計画における三世代コホート調査参加児に対する試み

    小林 朋子, 小林 美佳, 呉 繁夫

    脳と発達　52　(1)　55-55　2020/01

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  19. 東北メディカル・メガバンク機構三世代コホート調査実施から開発された遺伝教育ツール

    小林 朋子, 山中 千鶴, 永井 雅人, 菊谷 昌浩, 栗山 進一

    日本公衆衛生学会総会抄録集　78回　365-365　2019/10

    Publisher: 日本公衆衛生学会

    ISSN： 1347-8060

  20. 三世代コホート調査参加児に対する発達評価方法の検討

    小林美佳, 小林朋子, 小林朋子, 山中千鶴, 峯岸直子, 栗山進一, 呉繁夫

    日本小児科学会雑誌　123　(8)　1330-1330　2019/08/01

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  21. 三世代コホート調査参加児に対する発達評価方法の検討

    小林 美佳, 小林 朋子, 山中 千鶴, 峯岸 直子, 栗山 進一, 呉 繁夫

    日本小児科学会雑誌　123　(8)　1330-1330　2019/08

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  22. ゲノム医療実用化に係る専門的知識・情報の新しい伝え方の開発と実践 ドラマ「知ること、知らないこと」普及活動を通して

    小林 朋子, 安田 有理, 平沢 晃, 吉田 晶子, 加納 圭, 飯野 均, 川上 雅弘, 長神 風二

    日本遺伝カウンセリング学会誌　40　(2)　77-77　2019/07

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  23. 自閉スペクトラム症研究 東北メディカル・メガバンク計画における三世代コホート調査参加児に対する試み

    小林 朋子, 小林 美佳, 山中 千鶴, 栗山 進一, 呉 繁夫

    脳と発達　51　(Suppl.)　S249-S249　2019/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  24. 子どもコホート調査参加児の来所センターと住所との関連

    小林 朋子, 栗山 進一

    東北公衆衛生学会誌　(67)　32-32　2018/07

    Publisher: 東北公衆衛生学会

    ISSN： 0915-549X

  25. 神経線維腫症1型に高血圧を合併した2症例

    山口 祐樹, 木村 正人, 川野 研悟, 大田 千晴, 呉 繁夫, 大浦 敏博, 小林 朋子, 高瀬 圭

    日本小児科学会雑誌　122　(6)　1106-1106　2018/06

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  26. 神経線維腫症1型に高血圧を合併した2症例

    山口 祐樹, 木村 正人, 川野 研悟, 大田 千晴, 呉 繁夫, 大浦 敏博, 小林 朋子, 高瀬 圭

    日本小児科学会雑誌　122　(6)　1106-1106　2018/06

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  27. FGF12を含んだ縦列重複を伴うフェニトイン反応性てんかん性脳症

    菊池 敦生, 小林 朋子, 史 瑞明, 佐藤 亮, 植松 貢, 安 久美子, 呉 繁夫

    脳と発達　50　(Suppl.)　S422-S422　2018/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  28. 小児神経科医が知っておくべき遺伝学的検査シリーズ 複数の細胞遺伝学的検査の併用により診断が確定したマーカー染色体を有する成長障害と軽度知的障害を示す4歳男児

    菊池 敦生, 小林 朋子

    脳と発達　50　(2)　87-88　2018/03

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  29. FGF12を含むタンデム重複を伴うフェニトイン反応性てんかん性脳症

    菊池 敦生, 小林 朋子, 佐藤 亮, 植松 貢, 呉 繁夫

    日本小児科学会雑誌　122　(2)　456-456　2018/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  30. 住民コホート研究における個人への遺伝情報回付(返却) 東北メディカル・メガバンク計画の試み

    川目 裕, 福島 明宗, 長神 風二, 鈴木 洋一, 川口 悦生, 布施 昇男, 徳富 智明, 山本 佳世乃, 沼田 早苗, 小林 朋子, 相澤 弥生, 佐々木 真理, 山本 雅之

    日本遺伝カウンセリング学会誌　38　(2)　95-95　2017/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  31. ゲノムコホート研究における個人への遺伝情報の結果返却に関する遺伝カウンセリング記録の運用についての取り組みと今後の課題

    相澤 弥生, 高井 貴子, 沼田 早苗, 山本 佳世乃, 徳富 智明, 福島 明宗, 小林 朋子, 長神 風二, 鈴木 洋一, 川口 悦生, 布施 昇男, 川目 裕, 佐々木 真理, 山本 雅之

    日本遺伝カウンセリング学会誌　38　(2)　95-95　2017/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  32. マイクロアレイ染色体検査のピットホール 5q35重複症候群の診断経験から

    小林 朋子, 川目 裕

    脳と発達　49　(Suppl.)　S311-S311　2017/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  33. 「遺伝の仕組み」と「多様性」を学ぶための小児を対象とした遺伝教育ツール開発の取り組み

    小林 朋子, 菅原 美智子, 石原 利乃, 本郷 一夫, 相澤 弥生, 山口 由美, 齋藤 さかえ, 田中 由佳里, 栗木 美穂, 長神 風二, 安田 純, 栗山 進一, 川目 裕, 山本 雅之, 鈴木 洋一

    日本遺伝カウンセリング学会誌　38　(2)　89-89　2017/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  34. 一般集団への家族性高コレステロール血症(FH)の遺伝情報回付パイロット研究における事前アンケートについて

    沼田 早苗, 相澤 弥生, 山本 佳世乃, 徳富 智明, 石垣 泰, 遠藤 龍人, 丹野 高三, 佐藤 衛, 小林 朋子, 清水 厚志, 川目 裕, 福島 明宗, 山本 雅之, 佐々木 真理

    日本遺伝カウンセリング学会誌　38　(2)　97-97　2017/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  35. 遺伝と遺伝性疾患に関する講習会 ゲノムコホート研究における個人への遺伝情報の回付に関するパイロット研究参加者への試み

    徳富 智明, 清水 厚志, 福島 明宗, 山本 佳世乃, 石垣 泰, 川目 裕, 長神 風二, 小林 朋子, 相澤 弥生, 沼田 早苗, 鈴木 洋一, 布施 昇男, 菅原 敦子, 中山 文予, 山本 雅之, 佐々木 真理

    日本遺伝カウンセリング学会誌　38　(2)　144-144　2017/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  36. 結節性硬化症17例のスパズム及び強直発作に対するvigabatrinの効果と副作用

    植松 貢, 鈴木 智, 佐藤 寛記, 佐藤 優子, 植松 有里佳, 小林 朋子, 福與 なおみ, 呉 繁夫

    日本小児科学会雑誌　121　(5)　919-920　2017/05

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  37. 機能的半球離断が奏功した、COL4A1遺伝子異常を持つてんかん性脳症の1例(A case with epileptic encephalopathy and COL4A1 mutation, medicated by functional hemispherectomy)

    福與 なおみ, 菊池 敦生, 岩崎 真樹, 佐藤 優子, 久保田 由紀, 小林 朋子, 中山 東城, 萩野谷 和裕, 新堀 哲也, 青木 洋子, 呉 繁夫

    脳と発達　49　(Suppl.)　S301-S301　2017/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  38. 当科で経験したオプソクローヌス・ミオクローヌス症候群の3例

    阿部 裕, 相原 悠, 佐々木 和人, 大内 勇児, 鈴木 智, 及川 善嗣, 佐藤 寛記, 大久保 宗幸, 植松 有里佳, 小林 朋子, 植松 貢, 呉 繁夫

    脳と発達　49　(2)　145-145　2017/03

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  39. 「遺伝の仕組み」と「多様性」を学ぶための小児を対象とした遺伝教育ツール開発の取り組み

    小林朋子, 小林朋子, 菅原美智子, 石原利乃, 本郷一夫, 相澤弥生, 山口由美, 齋藤さかえ, 田中由佳里, 栗木美穂, 長神風二, 安田純, 櫻井美佳, 栗山進一, 川目裕, 鈴木吉也, 山本雅之, 鈴木洋一, 鈴木洋一

    日本人類遺伝学会大会プログラム・抄録集　62nd　324　2017

  40. 結節性硬化症17例のスパズム及び強直発作に対するvigabatrinの効果と副作用

    鈴木 智, 植松 貢, 佐藤 寛記, 佐藤 優子, 植松 有里佳, 中山 東城, 菊池 敦生, 小林 朋子, 福與 なおみ, 呉 繁夫

    脳と発達　48　(6)　413-419　2016/11

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  41. 網羅的ゲノム解析における偶発的所見を含む遺伝情報の結果の返却に関する我が国の現状と課題の検討 米国臨床遺伝・ゲノム学会(ACMG)の偶発的所見取り扱いに関する推奨からの考察

    相澤 弥生, 小林 朋子, 川目 裕

    日本遺伝カウンセリング学会誌　37　(3)　105-126　2016/10

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  42. 結節性硬化症17例のスパズム及び強直発作に対するvigabatrinの効果と副作用

    植松 貢, 鈴木 智, 佐藤 寛記, 佐藤 優子, 植松 有里佳, 中山 東城, 菊池 敦生, 小林 朋子, 福與 なおみ, 呉 繁夫

    てんかん研究　34　(2)　419-419　2016/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  43. ゲノムコホート研究における遺伝を専門とする看護師の役割 遺伝情報の結果返却に関連して

    相澤 弥生, 小林 朋子, 川口 悦生, 長神 風二, 安田 純, 布施 昇男, 鈴木 洋一, 川目 裕

    日本遺伝看護学会誌　15　(1)　33-33　2016/08

    Publisher: 日本遺伝看護学会

    ISSN： 1881-3267

  44. 進行性の心伝導障害に対して予防的にペースメーカー植込みを施行したカーンズ・セイヤー症候群の13歳例

    木村 正人, 大田 千晴, 川合 英一郎, 矢尾板 久雄, 山村 菜絵子, 呉 繁夫, 小林 朋子, 近藤 正輝

    日本小児科学会雑誌　120　(5)　916-917　2016/05

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  45. ミトコンドリア病におけるバイオマーカーとしてのGDF-15の有用性について

    植松 貢, 松橋 徹郎, 植松 有里佳, 小林 朋子, 小坂 仁, 呉 繁夫, 阿部 高明

    脳と発達　48　(Suppl.)　S277-S277　2016/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  46. Education tools to teach children about genetics, variation, and evolution Peer-reviewed

    Tomoko Kobayashi, Aizawa Yayoi, Sugawara Michiko, Sakurai-Yageta Mika, Danjoh Inaho, Yamaguchi-Kabata Yumi, Kuriki Miho, Kuriyama Shinichi, Nagami Fuji, Yasuda Jun, Kawame Hiroshi, Yamamoto Masayuki, Suzuki Yoichi

    2016/04

  47. Kabuki症候群の表現型を呈しCGHアレイにより、KDM6Aを含む欠失を認めた環状X染色体Turner症候群の女児例

    菅野 潤子, 川嶋 明香, 曽木 千純, 佐藤 亮, 上村 美季, 菊池 敦生, 中山 真紀子, 小林 朋子, 川目 裕, 藤原 幾磨, 呉 繁夫

    日本内分泌学会雑誌　92　(1)　259-259　2016/04

    Publisher: (一社)日本内分泌学会

    ISSN： 0029-0661

    eISSN： 2186-506X

  48. Kabuki症候群の表現型を呈したKDM6A欠失ring X Turner症候群

    菅野 潤子, 川嶋 明香, 曽木 千純, 佐藤 亮, 上村 美季, 菊池 敦生, 中山 真紀子, 小林 朋子, 川目 裕, 藤原 幾磨, 呉 繁夫

    日本内分泌学会雑誌　91　(3)　795-795　2015/10

    Publisher: (一社)日本内分泌学会

    ISSN： 0029-0661

    eISSN： 2186-506X

  49. 網羅的ゲノム解析によって候補遺伝子が明らかになった潜因性West症候群

    福與 なおみ, 菊池 敦生, 市野井 那津子, 新堀 哲也, 佐藤 亮, 工藤 宏紀, 佐藤 優子, 中山 東城, 柿坂 庸介, 久保田 由紀, 小林 朋子, 植松 貢, 青木 洋子, 萩野谷 和裕, 呉 繁夫

    てんかん研究　33　(2)　512-512　2015/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  50. 臨床におけるエクソーム解析/全ゲノム解析における偶発的所見の報告に関する遺伝の専門家の認識 系統的レビュー

    相澤 弥生, 小林 朋子, 川目 裕

    日本遺伝カウンセリング学会誌　36　(2)　64-64　2015/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  51. 研究における個人への遺伝情報の返却 欧米のガイドラインの状況

    川目 裕, 小林 朋子, 相澤 弥生

    日本遺伝カウンセリング学会誌　36　(2)　65-65　2015/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  52. マイクロアレイ染色体検査がもたらす心理社会的影響 系統的レビュー

    小林 朋子, 相澤 弥生, 川目 裕

    日本遺伝カウンセリング学会誌　36　(2)　66-66　2015/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  53. 出生前診断における男女の気持ちの相違点 系統的レビュー

    津幡 真理, 小林 朋子, 川目 裕

    日本遺伝カウンセリング学会誌　36　(2)　104-104　2015/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  54. ダウン症のある子への家族の想い 系統的レビュー

    仲間 美奈, 小林 朋子, 川目 裕

    日本遺伝カウンセリング学会誌　36　(2)　109-109　2015/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  55. 胎児期より小頭を呈し、出生後に大脳萎縮が進行したASNS遺伝子変異を認める先天性小頭症の一例

    遠藤 若葉, 乾 健彦, 大久保 幸宗, 小林 朋子, 才津 浩智, 松本 直通, 萩野谷 和裕

    脳と発達　47　(Suppl.)　S237-S237　2015/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  56. マイクロアレイ染色体検査がもたらす心理社会的影響 症例報告

    小林 朋子, 菊池 敦生, 市野井 那津子, 佐藤 亮, 呉 繁夫, 川目 裕

    日本遺伝カウンセリング学会誌　36　(2)　66-66　2015/05

    Publisher: 日本遺伝カウンセリング学会

    ISSN： 1347-9628

  57. 症状の再燃を繰り返した自己免疫性小脳失調症に対しrituximabが有効であった1例

    佐藤 寛記, 堅田 有宇, 鈴木 智, 久保田 由紀, 福與 なおみ, 小林 朋子, 植松 貢, 呉 繁夫

    脳と発達　47　(Suppl.)　S265-S265　2015/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  58. 結節性硬化症を基礎疾患とする難治性てんかんに対してVigabatrin投与を行った17例の検討

    鈴木 智, 佐藤 寛記, 佐藤 優子, 植松 有里佳, 中山 東城, 久保田 由紀, 福與 なおみ, 小林 朋子, 植松 貢, 呉 繁夫

    脳と発達　47　(Suppl.)　S309-S309　2015/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  59. 本邦で初めてCLN8のホモ接合性変異により神経セロイドリポフスチン症(NCL)の診断に至った6歳男児例

    堅田 有宇, 植松 貢, 佐藤 寛記, 鈴木 智, 中山 東城, 久保田 由紀, 小林 朋子, 福與 なおみ, 才津 浩智, 呉 繁夫

    脳と発達　47　(Suppl.)　S334-S334　2015/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  60. 潜因性West症候群に対する網羅的ゲノム解析による遺伝学的診断の有用性

    菊池 敦生, 福與 なおみ, 市野井 那津子, 新堀 哲也, 佐藤 亮, 工藤 宏紀, 佐藤 優子, 中山 東城, 柿坂 庸介, 久保田 由紀, 小林 朋子, 植松 貢, 青木 洋子, 萩野谷 和裕, 呉 繁夫

    脳と発達　47　(Suppl.)　S339-S339　2015/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  61. 潜因性West症候群の網羅的ゲノム解析―18症例中9例で候補変異を同定―

    菊池敦生, 福與なおみ, 福與なおみ, 市野井那津子, 新堀哲也, 佐藤亮, 鈴木資, 工藤宏紀, 佐藤優子, 中山東城, 柿坂庸介, 柿坂庸介, 久保田由紀, 小林朋子, 小林朋子, 舟山亮, 中山啓子, 植松貢, 青木洋子, 萩野谷和裕, 呉繁夫

    日本人類遺伝学会大会プログラム・抄録集　60th　248　2015

  62. COL4A1遺伝子変異が原因と考えられるてんかん性脳症の1例

    福與なおみ, 福與なおみ, 菊池敦生, 佐藤優子, 柿坂庸介, 久保田由紀, 遠藤若葉, 小林朋子, 植松貢, 佐藤亮, 市野井那津子, 萩野谷和裕, 新堀哲也, 新堀哲也, 青木洋子, 青木洋子, 呉繁夫

    日本人類遺伝学会大会プログラム・抄録集　60th　260　2015

  63. 積極的なてんかん外科手術により良好な経過をえた女児例

    福與なおみ, 岩崎真樹, 柿坂庸介, 柿坂庸介, 菊池敦生, 久保田由紀, 遠藤若葉, 佐藤優子, 小林朋子, 冨樫紀子, 中里信和, 呉繁夫

    日本てんかん外科学会プログラム・抄録集　38th　97　2015/01

  64. 本邦で初めてCLN8のホモ接合性変異により神経セロイドリポフスチン症(neuronal ceroid lipofuscinosis)の診断に至った6歳男児例

    堅田 有宇, 植松 貢, 佐藤 寛記, 鈴木 智, 中山 東城, 久保田 由紀, 小林 朋子, 福與 なおみ, 才津 浩智, 呉 繁夫

    脳と発達　47　(1)　64-64　2015/01

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  65. 【神経症候群(第2版)-その他の神経疾患を含めて-】先天異常/先天奇形 染色体異常・先天奇形症候群 Roberts症候群/SCアザラシ肢症候群

    小林朋子, 川目裕

    日本臨床　別冊　(神経症候群IV)　658-660　2014/09

    Publisher: (株)日本臨床社

    ISSN： 0047-1852

  66. 【神経症候群(第2版)-その他の神経疾患を含めて-】先天異常/先天奇形 染色体異常・先天奇形症候群 Robinow症候群

    小林 朋子, 川目 裕

    日本臨床　別冊　(神経症候群IV)　661-662　2014/09

    Publisher: (株)日本臨床社

    ISSN： 0047-1852

  67. 少量のビガバトリンにて結節性硬化症によるWest症候群の治療が可能であった一例(Extremely low-dose Vigabatrin for West syndrome with tuberous sclerosis)

    佐藤 優子, 福與 なおみ, 柿坂 庸介, 遠藤 若葉, 久保田 由紀, 菊池 敦生, 小林 朋子, 沼田 有里佳, 植松 貢, 萩野谷 和裕, 森 雅人, 小坂 仁, 呉 繁夫

    てんかん研究　32　(2)　430-430　2014/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  68. シリーズ形成スパズム発作に対してACTH療法が有効だったPallister-Killian症候群の2例

    小林 朋子, 植松 貢, 中山 東城, 菊池 敦生, 遠藤 若葉, 佐藤 寛記, 佐藤 優子, 鈴木 智, 福與 なおみ, 久保田 由紀, 川目 裕, 呉 繁夫

    てんかん研究　32　(2)　464-464　2014/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  69. ビガバトリンを第一選択に用いた結節性硬化症に伴うウエスト症候群後の1例

    佐藤 優子, 福與 なおみ, 菊池 敦生, 中山 東城, 柿坂 庸介, 久保田 由紀, 遠藤 若葉, 小林 朋子, 萩野谷 和裕, 植松 貢, 沼田 有里佳, 土井 洋, 呉 繁夫

    小児科臨床　67　(6)　1047-1050　2014/06

    Publisher: (株)日本小児医事出版社

    ISSN： 0021-518X

  70. Infantile spasmsを呈したPallister-Killian症候群の2例

    小林 朋子, 植松 貢, 中山 東城, 菊池 敦生, 遠藤 若葉, 佐藤 寛記, 佐藤 優子, 福與 なおみ, 久保田 由紀, 川目 裕, 呉 繁夫

    脳と発達　46　(Suppl.)　S264-S264　2014/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  71. 臍帯血移植を施行した副腎白質ジストロフィーの兄弟例

    沼田 有里佳, 小林 朋子, 植松 貢, 坂本 修, 廣瀬 三恵子, 福與 なおみ, 中山 東城, 佐藤 優子, 呉 繁夫

    脳と発達　46　(Suppl.)　S324-S324　2014/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  72. タクロリムスが痙攣コントロールに有効である難治頻回部分発作重積型急性脳炎の一例

    佐藤 優子, 植松 貢, 沼田 有里佳, 菊池 敦生, 中山 東城, 柿坂 庸介, 小林 朋子, 福與 なおみ, 萩野谷 和裕, 呉 繁夫

    脳と発達　46　(Suppl.)　S365-S365　2014/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  73. 眼科的精査が診断確定に有用であった大動脈縮窄症を合併した神経線維腫症1型の女児例

    木村 正人, 小林 朋子, 川野 研悟, 鈴木 大, 矢尾板 久雄, 呉 繁夫

    日本小児科学会雑誌　118　(4)　730-730　2014/04

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  74. 胎児期より小頭を指摘され出生後に大脳萎縮が進行したMSG(Microcephaly with simplified gyri)の一例

    遠藤 若葉, 佐藤 亮, 乾 健彦, 田中 総一郎, 小林 朋子, 才津 浩智, 萩野谷 和裕

    脳と発達　46　(1)　57-57　2014/01

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  75. DYNC1H1新規変異を同定した大脳皮質形成異常と両下肢筋萎縮を認める一例~明らかになってきたDYNC1H1変異型と表現型との関連~

    小林朋子, 萩野谷和裕, 宮武聡子, 才津浩智, 植松貢, 中山東城, 福與なおみ, 川目裕, 呉繁夫, 松本直通

    日本遺伝子診療学会大会プログラム・抄録集　21st　281　2014

  76. 脳波上hypsarrhythmiaの出現前にspasmが6週間先行したWest症候群の1例

    相原 悠, 福與 なおみ, 柿坂 庸介, 菊池 敦生, 川嶋 明香, 佐藤 優子, 遠藤 若葉, 久保田 由紀, 小林 朋子, 富樫 紀子, 呉 繁夫

    小児科臨床　66　(9)　1899-1903　2013/09

    Publisher: (株)日本小児医事出版社

    ISSN： 0021-518X

  77. Dravet症候群におけるStiripentolの治療効果の検討

    小林 朋子, 中山 東城, 植松 貢, 福與 なおみ, 佐藤 優子, 菊池 敦生, 呉 繁夫

    てんかん研究　31　(2)　336-336　2013/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  78. SLC2A1遺伝子変異を同定した古典型GLUT1欠損症候群の1例

    小林 朋子, 植松 貢, 中山 東城, 福與 なおみ, 菊池 敦夫, 佐藤 優子, 守屋 充司, 佐藤 亮, 柿坂 庸介, 呉 繁夫

    脳と発達　45　(Suppl.)　S321-S321　2013/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  79. 大田原症候群の核医学検査(SPECT、PET)所見について 早期ミオクロニー脳症との比較

    植松 貢, 廣瀬 三恵子, 中山 東城, 菊池 敦生, 佐藤 優子, 小林 朋子, 福與 なおみ, 萩野谷 和裕, 呉 繁夫

    脳と発達　45　(Suppl.)　S379-S379　2013/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  80. SLC2A1遺伝子同一変異でも表現型は多様であることが示唆されたグルコーストランスポーター1欠損症候群の1例

    小林朋子, 植松貢, 中山東城, 福與なおみ, 菊池敦生, 守谷充司, 呉繁夫

    日本人類遺伝学会大会プログラム・抄録集　58th　188　2013

  81. RBPJ遺伝子異常を認めたてんかんを伴う近位4p欠失症候群の一例

    中山東城, 才津浩智, 遠藤若葉, 菊池敦生, 植松貢, 萩野谷和裕, 福與なおみ, 小林朋子, 岩崎真樹, 冨永悌二, 呉繁夫, 松本直通

    日本人類遺伝学会大会プログラム・抄録集　58th　188　2013

  82. RSウイルス感染後にパリビズマブを投与し良好に経過したミトコンドリア病の1例

    川嶋明香, 遠藤若葉, 佐藤優子, 菊池敦生, 久保田由紀, 柿坂庸介, 小林朋子, 福與なおみ

    日本小児科学会雑誌　116　(12)　1939-1940　2012/12

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  83. RSウイルス感染後にパリビズマブを投与し良好に経過したミトコンドリア病の1例

    川嶋明香, 遠藤若葉, 佐藤優子, 菊池敦生, 久保田由紀, 柿坂庸介, 小林朋子, 福與なおみ

    日本小児科学会雑誌　116　(10)　1625-1625　2012/10

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  84. 結節性硬化症に伴った難治性てんかんに対するビガバトリンの効果

    小林 朋子, 植松 貢, 福與 なおみ, 柿坂 庸介, 中山 東城, 菊池 敦生, 鈴木 理恵, 遠藤 若葉, 佐藤 優子, 佐藤 亮, 久保田 由紀, 沼田 有里佳, 岩崎 真樹, 呉 繁夫

    てんかん研究　30　(2)　319-319　2012/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  85. ACTH療法前のビガバトリン投与を試みた、結節性硬化症に伴うウエスト症候群の1例

    福與 なおみ, 佐藤 亮, 佐藤 優子, 柿坂 庸介, 菊池 敦生, 小林 朋子, 久保田 由紀, 遠藤 若葉, 沼田 有里佳, 植松 貢, 萩野谷 和裕, 呉 繁夫

    てんかん研究　30　(2)　438-438　2012/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  86. 小児てんかん外科 早期手術患者の発見と利点 小児難治てんかんに対する脳梁離断術 長期発作寛解例の特徴

    岩崎 真樹, 植松 貢, 佐藤 優子, 中山 東城, 小林 朋子, 福與 なおみ, 萩野谷 和裕, 神 一敬, 大沢 伸一郎, 板橋 尚, 中里 信和, 冨永 悌二

    脳と発達　44　(Suppl.)　S129-S129　2012/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  87. ジストニア、髄鞘化障害、甲状腺ホルモン異常から診断したMCT8遺伝子異常症の1例

    植松 貢, 中山 東城, 矢尾板 全子, 小林 朋子, 福與 なおみ, 呉 繁夫

    日本小児科学会雑誌　116　(5)　887-888　2012/05

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  88. 新生児マススクリーニングを契機に診断された本邦初のGTPCH欠損症の臨床経過

    遠藤 若葉, 植松 貢, 小林 朋子, 中山 東城, 坂本 修, 呉 繁夫

    脳と発達　44　(Suppl.)　S317-S317　2012/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  89. オリゴアレイCGHによる小児神経領域患者のスクリーニングの試み

    菊池 敦生, 鈴木 理恵, 中山 東城, 久保田 由紀, 廣瀬 三恵子, 小林 朋子, 福與 なおみ, 植松 貢, 萩野谷 和裕, 呉 繁夫

    脳と発達　44　(Suppl.)　S328-S328　2012/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  90. スパズム発作を有する結節性硬化症を伴った難治性てんかんに対するビガバトリンの効果

    小林 朋子, 植松 貢, 中山 東城, 鈴木 理恵, 遠藤 若葉, 佐藤 亮, 福與 なおみ, 沼田 有里佳, 呉 繁夫

    脳と発達　44　(Suppl.)　S348-S348　2012/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  91. 小児型ポンペ病兄弟例に対する酵素補充療法 小児型における治療効果評価の検討

    中山 東城, 坂本 修, 守谷 充司, 小林 朋子, 遠藤 若葉, 福與 なおみ, 植松 貢, 呉 繁夫, 萩野谷 和裕

    日本小児科学会雑誌　116　(3)　612-612　2012/03

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  92. 新生児マススクリーニングをきっかけに診断された本邦初のGTPCH欠損症の1例

    佐藤 寛記, 植松 貢, 遠藤 若葉, 小林 朋子, 中山 東城, 坂本 修, 新宅 治夫, 呉 繁夫

    日本小児科学会雑誌　116　(2)　268-268　2012/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  93. 乳幼児期に呼吸不全へ至った進行性骨化性線維異形成症の一例

    佐藤 亮, 遠藤 若葉, 鈴木 理恵, 中山 東城, 小林 朋子, 植松 貢, 藤原 幾磨, 萩野谷 和裕, 呉 繁夫

    日本小児科学会雑誌　116　(2)　442-442　2012/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  94. 脳梁離断術後の発作消失

    岩崎 真樹, 植松 貢, 佐藤 優子, 中山 東城, 小林 朋子, 福與 なおみ, 萩野谷 和裕, 神 一敬, 大沢 伸一郎, 板橋 尚, 中里 信和, 冨永 悌二

    てんかん研究　29　(2)　353-353　2011/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  95. 発作が急激に増加し早期に外科的治療を行った片側巨脳症の1例

    梅木郁美, 中山東城, 遠藤若葉, 佐藤優子, 小林朋子, 矢尾板全子, 守谷充司, 久保田由紀, 福與なおみ, 植松貢

    日本小児科学会雑誌　115　(9)　1477-1477　2011/09

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  96. 側方注視で誘発される難治性の反射けいれんに対する脳梁離断術

    中山 東城, 高橋 剛夫, 岩崎 真樹, 佐藤 優子, 守谷 充司, 小林 朋子, 加藤 朝子, 植松 貢, 中里 信和, 呉 繁夫

    てんかん研究　29　(2)　370-370　2011/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  97. Smith-Magenis症候群に合併したウエスト症候群後の難治てんかん 脳梁離断術後の経過

    福與 なおみ, 萩野谷 和裕, 岩崎 真樹, 佐藤 優子, 植松 貢, 小林 朋子, 柿坂 庸介, 沼田 有里佳, 呉 繁夫

    てんかん研究　29　(2)　407-407　2011/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  98. 塩化タリウムシンチが診断に有用と考えられたTolosa-Hunt症候群の1例

    小林 朋子, 植松 貢, 沼田 有里佳, 柿坂 庸介, 土屋 滋

    脳と発達　43　(Suppl.)　S297-S297　2011/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  99. 幼児型ポンペ病の兄弟例に対する酵素補充療法の経過について

    守谷 充司, 萩野谷 和裕, 佐藤 優子, 中山 東城, 久保田 由紀, 小林 朋子, 植松 貢, 坂本 修, 土屋 滋

    脳と発達　43　(Suppl.)　S361-S361　2011/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  100. 5番染色体短腕部分欠失にマーカー染色体を伴う染色体異常が検出された一例

    小林 朋子, 青木 洋子, 松田 直, 新堀 哲也, 土屋 滋, 松原 洋一

    日本小児科学会雑誌　115　(2)　384-384　2011/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  101. 右方凝視で誘発される反射性てんかん発作を呈する難治性てんかんの1例

    中山 東城, 高橋 剛夫, 佐藤 優子, 守谷 充司, 小林 朋子, 植松 貢, 加藤 朝子, 土屋 滋

    てんかん研究　28　(3)　501-501　2011/01

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  102. 結節性硬化症に合併したWEST症候群に対するビガバトリンの使用プロトコール

    植松貢, 福與なおみ, 中山東城, 沼田有里佳, 小林朋子, 柿坂庸介, 萩野谷和裕, 土屋滋

    てんかん研究　28　(2)　239-239　2010/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  103. ABPEにおけるECD‐SPECTによる脳血流の解析

    萩野谷和裕, 植松貢, 福與なおみ, 広瀬三恵子, 松本葉子, 涌澤圭介, 柿坂庸介, 小林朋子, 土屋滋

    てんかん研究　28　(2)　337-337　2010/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  104. Noonan症候群類縁疾患におけるRAF1遺伝子解析とその発症メカニズムの解析

    小林 朋子, 青木 洋子, 新堀 哲也, 鳴海 洋子, 小松崎 匠子, 土屋 滋, 呉 繁夫, 松原 洋一

    日本小児科学会雑誌　114　(2)　190-190　2010/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  105. West症候群におけるictal subtraction SPECTを用いた発作時脳血流変化の解析

    植松貢, 福與なおみ, 菊池敦生, 中山東城, 小林朋子, 涌澤圭介, 圓谷理恵, 柿坂庸介, 萩野谷和裕, 土屋滋

    てんかん研究　27　(2)　308-308　2009/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  106. 便秘で発症し、急速に呼吸不全を呈した1例

    吉川 秀人, 小林 朋子

    小児神経学の進歩　38　94-106　2009/05

    Publisher: (株)診断と治療社

  107. 当科で経験したファブリー病の2家系の遺伝カウンセリング

    小松崎 匠子, 小林 朋子, 新堀 哲也, 青木 洋子, 呉 繁夫, 松原 洋一

    日本小児科学会雑誌　112　(9)　1428-1428　2008/09

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  108. デュシェンヌ型筋ジストロフィ家系の女性において保因者診断を行った1例

    新堀 哲也, 小林 朋子, 小松崎 匠子, 青木 洋子, 呉 繁夫, 松原 洋一

    日本小児科学会雑誌　112　(9)　1428-1429　2008/09

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  109. 多彩なMRI画像所見を呈し、慢性進行性に経過しているLeigh脳症の8歳男児例

    菊池 敦生, 植松 貢, 中山 東城, 松本 葉子, 小林 朋子, 萩野谷 和裕, 土屋 滋

    脳と発達　40　(3)　261-261　2008/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  110. 入院時に全身の著明な筋力低下を認めたにもかかわらず深部腱反射が正常であった乳児ボツリヌス症の1例

    小林 朋子, 柳田 紀之, 菅原 伸, 斎藤 明子, 森本 哲司, 萩野谷 和裕, 土屋 滋

    脳と発達　40　(3)　262-262　2008/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  111. 【小児の頭痛 診断・治療の進歩】頭痛の鑑別診断 急性頭痛

    小林 朋子

    小児内科　40　(5)　796-800　2008/05

    Publisher: (株)東京医学社

    ISSN： 0385-6305

  112. 先天性高乳酸血症における難治性てんかんに対するケトン食療法の試み

    菊池 敦生, 植松 貢, 小林 朋子, 松本 葉子, 涌澤 圭介, 中山 東条, 福與 なおみ, 萩野谷 和裕, 土屋 滋

    脳と発達　40　(Suppl.)　S391-S391　2008/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  113. West症候群を合併したSmith-Magenis症候群の1女児例

    福與 なおみ, 植松 貢, 中山 東城, 菊池 敦生, 呉 繁夫, 鎌田 文顕, 冨樫 紀子, 小林 朋子, 大沼 晃, 萩野谷 和裕, 土屋 滋

    脳と発達　40　(3)　261-261　2008/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  114. 腎機能低下が遷延した溶連菌感染後急性糸球体腎炎の1例

    菅原 典子, 森本 哲司, 熊谷 直憲, 小林 朋子, 柳田 紀之, 斎藤 由佳, 土屋 滋, 根東 義明

    日本小児科学会雑誌　112　(3)　531-531　2008/03

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  115. 【薬に関する素朴な疑問】小児の頭痛にはどのような薬剤を使用すればよいですか

    小林 朋子

    小児内科　40　(2)　437-438　2008/02

    Publisher: (株)東京医学社

    ISSN： 0385-6305

  116. 原発性腸リンパ管拡張症による蛋白漏出性胃腸症に対するヘパリン療法

    小林 朋子, 森本 哲司, 柳田 紀之, 菅原 伸, 斎藤 明子, 加藤 晴一, 萩野谷 和裕, 土屋 滋, 新井 勝大, 清水 俊明

    日本小児科学会雑誌　112　(2)　259-259　2008/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  117. Noonan症候群類縁疾患におけるSOS1遺伝子解析と臨床像の検討

    鳴海 洋子, 青木 洋子, 新堀 哲也, 小林 朋子, 西尾 公男, 大橋 博文, 黒澤 健司, 川目 裕, 呉 繁夫, 松原 洋一

    日本小児科学会雑誌　112　(2)　226-226　2008/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  118. O2-74 Clinical and neuroimaging stidues of patients with malignant rolandicsylvian epilepsy in children(The 41^<th> Congress of the Japan Epilepsy Society)

    萩野谷 和裕, 中里 信和, 植松 貢, 松本 葉子, 小林 朋子, 福與 なおみ, 北村 太郎, 土屋 滋

    Journal of the Japan Epilepsy Society　25　(3)　323-323　2007/09/30

    Publisher: Japan Epilepsy Society

    ISSN： 0912-0890

  119. 腎性低尿酸血症における急性腎不全の1例

    菅原 典子, 森本 哲司, 熊谷 直憲, 小林 朋子, 斎藤 明子, 柳田 紀之, 菅原 伸, 土屋 滋, 根東 義明

    日本小児科学会雑誌　111　(9)　1215-1215　2007/09

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  120. 井戸水で感染した世界初の乳児ボツリヌス症

    小林 朋子, 柳田 紀之, 菅原 伸, 斎藤 明子, 森本 哲司, 萩野谷 和裕, 土屋 滋

    日本小児科学会雑誌　111　(9)　1216-1216　2007/09

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  121. Malignant rolandic-sylvian epilepsy in childrenの臨床・画像・MEG

    萩野谷 和裕, 中里 信和, 植松 貢, 松本 葉子, 小林 朋子, 福與 なおみ, 北村 太郎, 土屋 滋

    てんかん研究　25　(3)　323-323　2007/09

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  122. Malignant rolandic-sylvian epilepsy in children(MRSE)におけるIMZ SPECT

    北村 太郎, 萩野谷 和裕, 柿坂 庸介, 植松 貢, 福與 なおみ, 冨樫 紀子, 横山 浩之, 奈良 千恵子, 宗形 光敏, 廣瀬 三恵子, 涌澤 圭介, 佐藤 育子, 小林 朋子, 松本 葉子, 飯沼 一宇

    脳と発達　39　(Suppl.)　S326-S326　2007/06

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  123. 頭痛を主訴に救命救急センター外来を受診した小児例の臨床的検討

    小林朋子, 山本克哉, 高柳勝, 土屋滋

    脳と発達　39　(Suppl.)　S332-S332　2007/06

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  124. Leigh脳症とその関連ミトコンドリア脳症のFDG-PETによる脳代謝異常の検討

    萩野谷和裕, 植松貢, 小林朋子, 松本葉子, 福與なおみ, 北村太郎, 冨樫紀子, 山本克哉, 高柳勝, 宮林重明, 金田朋洋, 土屋滋

    脳と発達　39　(Suppl.)　S257-S257　2007/06

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  125. 片側巨脳症7例の核医学画像所見と臨床像について

    植松貢, 萩野谷和裕, 富樫紀子, 松本葉子, 小林朋子, 福與なおみ, 横山浩之, 社本博, 土屋滋

    脳と発達　39　(Suppl.)　S254-S254　2007/06

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  126. West症候群に対するACTH治療の当施設における長期予後とその予後因子

    松本葉子, 萩野谷和裕, 石飛真美子, 福與なおみ, 植松貢, 小林朋子, 北村太郎, 冨樫紀子, 横山浩之, 飯沼一宇, 土屋滋

    脳と発達　39　(Suppl.)　S141-S141　2007/06

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  127. 蛋白漏出性胃腸症からcentral pontine myelinolysis(CPM)を発症した1乳児例

    小林 朋子, 松本 葉子, 福與 なおみ, 北村 太郎, 植松 貢, 萩野谷 和裕

    脳と発達　39　(3)　229-229　2007/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  128. 弛緩性運動麻痺を呈した悪性腫瘍中枢神経再発の2例

    松本葉子, 力石健, 坂本修, 小林朋子, 植松貢, 萩野谷和裕, 久間木悟, 土屋滋

    脳と発達　39　(3)　229-229　2007/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  129. 感染経路が明らかとなったA型毒素産生乳児ボツリヌス症の1例

    小林朋子, 柳田紀之, 菅原伸, 斎藤明子, 森本哲司, 萩野谷和裕, 土屋滋

    日本小児科学会雑誌　111　(2)　192-192　2007/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  130. 限局性強皮症の1例

    柳田 紀之, 小林 朋子, 森本 哲司, 土屋 滋, 齋藤 牧子, 中川 聡

    日本小児科学会雑誌　111　(1)　81-81　2007/01

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  131. けいれん重積症の治療 リドカインの局所投与によって痙攣重積を生じた2例

    円谷 理恵, 山本 克哉, 佐藤 美佳, 鈴木 力生, 早坂 薫, 佐古 恩, 小林 朋子, 箕浦 貴則, 近岡 秀二, 高柳 勝, 大竹 正俊

    日本小児救急医学会雑誌　5　(1)　65-65　2006/06

    Publisher: (一社)日本小児救急医学会

    ISSN： 1346-8162

  132. 仙台市立病院救命救急センターにおける小児けいれん性疾患の検討

    山本 克哉, 村田 祐二, 高柳 勝, 近岡 秀二, 小林 朋子, 箕浦 貴則, 佐古 恩, 早坂 薫, 鈴木 力生, 圓谷 理恵, 佐藤 美香, 阿部 裕, 森谷 邦彦, 木村 武司, 大竹 正俊

    仙台市立病院医学雑誌　26　9-13　2006/06

    Publisher: 仙台市立病院

    ISSN： 0388-8878

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    平成15年に著者らの救命救急センターで経験した小児けいれん性疾患579例について検討した。疾患別内訳は、有熱性が7割、無熱性が3割であった。年齢は3歳以下が全体の2/3を占め、1歳にピークがみられた。男女比は4:3と男児に多く、受診時刻は18〜21時の4時間で全体の3割を占め、8割が救急車での来院であった。各種神経学的検査では、頭部CTは熱性けいれん複合型で7割、単純型で1割、初発の無熱性けいれんで7割の例で施行され、腰椎穿刺施行は11例のみであった。標準的治療により全例で発作は抑制され、入院治療は4割であった。けいれん自体による重篤な後遺症や死亡はなく、予後良好であった。

  133. 医師臨床研修必修化における当院での小児科研修の現状

    大竹 正俊, 佐藤 美佳, 圓谷 理恵, 鈴木 力生, 佐古 恩, 早坂 薫, 箕浦 貴則, 小林 朋子, 近岡 秀二, 高柳 勝, 山本 克哉, 村田 祐二

    仙台市立病院医学雑誌　26　31-38　2006/06

    Publisher: 仙台市立病院

    ISSN： 0388-8878

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    初期臨床研修医14名および小児科常務医師6名を対象に、医師臨床研修必修化が1年経過した時点での小児科研修に関するアンケート調査を行った。その結果、小児科3ヵ月研修における経験症例数は一人あたり平均142.5例であり、疾患の内訳もプライマリ・ケアの研修に適切な内容と考えられた。基本的手技として、静脈血採血は生後1ヵ月時より、血管確保は生後3ヵ月時より可能となったことから、小児科以外の科を志望する医師が将来、小児救急に参画できる可能性が示唆された。しかし、小児科3ヵ月研修を実施している施設は20%と少なく、患者数や指導医数にも関連するが、今後、小児科3ヵ月研修を実施する施設の増加が期待される。

  134. Etoposideによる二次性白血病をきたしたEBウイルス関連血球貪食症候群の1例

    鈴木 力生, 大竹 正俊, 佐藤 美佳, 圓谷 理恵, 佐古 恩, 早坂 薫, 箕浦 貴則, 小林 朋子, 近岡 秀二, 高柳 勝, 山本 克哉, 村田 祐二

    仙台市立病院医学雑誌　26　61-68　2006/06

    Publisher: 仙台市立病院

    ISSN： 0388-8878

    More details Close

    2歳男児。患者は発熱、頸部リンパ節腫脹、眼瞼浮腫、嘔吐、下痢を主訴とした。入院時、汎血球数減少、FDPの上昇を認め、胸部X線では左上肺野と右中肺野に浸潤陰影が認められた。精査の結果、EBウイルス関連血球貪食症候群と診断し、プレドニゾロンおよびシクロスポリンAの投与に加え、etoposide(VP-16)投与を開始した。しかし、開始14ヵ月目にVP-16関連二次性白血病を発症し、AML99プロトコールの準じた寛解導入療法を行い、本症例は完全寛解が得られた。以後、HLA一致の妹をドナーとして同種骨髄移植を行った結果、良好な経過となった。

  135. 単純ヘルペス脳炎の1乳児例

    小林 朋子, 鈴木 力生, 早坂 薫, 高柳 勝, 山本 克哉, 大竹 正俊

    脳と発達　38　(3)　227-227　2006/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  136. 発作後にいざりで回転移動を行う驚愕てんかんの1例

    平山 恒憲, 小林 朋子, 藤野 修, 藤田 武久

    脳と発達　38　(3)　230-230　2006/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  137. 当科にて精査を行った反復性頭痛例の国際頭痛分類第2版を用いた検討

    小林 朋子, 高柳 勝, 山本 克哉

    脳と発達　38　(Suppl.)　S282-S282　2006/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  138. 当科で平成16年度に施行した排尿時膀胱尿道造影16例の検討

    近岡 秀二, 鈴木 力生, 圓谷 理恵, 佐藤 美佳, 佐古 恩, 早坂 薫, 箕浦 貴則, 小林 朋子, 高柳 勝, 山本 克哉, 村田 祐二, 大竹 正俊

    日本小児科学会雑誌　109　(10)　1265-1265　2005/10

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  139. 臨床研修必修化における当院での小児科研修の現状

    大竹 正俊, 佐藤 美佳, 圓谷 理恵, 鈴木 力生, 佐古 恩, 早坂 薫, 箕浦 貴則, 小林 朋子, 近岡 秀二, 高柳 勝, 山本 克哉, 村田 祐二

    日本小児科学会雑誌　109　(10)　1266-1266　2005/10

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  140. 重症心身障害児(者)におけるインフルエンザワクチン接種による抗体価の変動

    小林 朋子, 平山 恒憲, 藤野 修, 福永 慶隆

    脳と発達　37　(Suppl.)　S283-S283　2005/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  141. 初回無熱性発作の臨床的検討 初回発作後の治療の影響について(第2報)

    藤野 修, 藤田 武久, 高石 康子, 桑原 健太郎, 羽鳥 誉之, 藤松 真理子, 岡田 一芳, 川上 康彦, 平山 恒憲, 小林 朋子, 橋本 清

    てんかん研究　23　(1)　54-54　2005/02

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  142. 成人Down症候群2症例における自傷行為,興奮に対する選択的セロトニン再取り込み阻害剤(SSRI)の効果

    平山 恒憲, 小林 朋子, 藤田 武久, 藤野 修

    脳と発達　36　(5)　391-394　2004/09

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

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    症例1:35歳男.生後3ヵ月時にDown症候群と診断され,4歳時に重症心身障害児病棟へ入院した.数年後白内障に罹患した頃より自分の額や眼をたたく自傷行為が出現し,徐々に両側矮小眼球となり失明に至った.音や周りの環境に敏感となり,常にイライラして問題行動を起こし,phenobarbitalなどの内服薬は無効であった.fluvoxamine 50mgのみに変更したところ,1週間で問題行動は激減し,100mg投与で経過観察中である.症例2:47歳男.新生児仮死,哺乳困難などがあったが,医療機関の受診は殆どなかった.13歳時に重症心身障害児病棟に入院し,成人期に易興奮性,暴行などの問題行動が出現した.Diazepam使用や環境変化などの対応では症状に変化はなく,fluvoxamine 50mgに変更したところ,1週間後で興奮は減少した.100mg投与で問題行動は消失し,診察にも従順となった

  143. 胃瘻増設術後の腹水貯留に対して腹水濾過濃縮再静注法を施行した1症例

    小林 朋子, 平山 恒憲

    日本重症心身障害学会誌　29　(2)　152-152　2004/08

    Publisher: 日本重症心身障害学会

    ISSN： 1343-1439

  144. 原因不明の脳梗塞と考えられていた基底核原発胚細胞腫の1男児例

    小林 朋子, 羽鳥 誉之, 藤松 真理子, 桑原 健太郎, 藤田 武久, 高石 康子, 藤野 修, 松谷 雅生

    脳と発達　36　(Suppl.)　S323-S323　2004/06

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  145. 重度精神遅滞,両側眼裂狭小,眼瞼下垂,小眼球,小頭,性腺機能低下,低身長を伴う1女児例 Ohdo眼裂狭小症候群との異同

    平山 恒憲, 小林 朋子, 藤田 武久, 藤野 修

    脳と発達　36　(3)　253-257　2004/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

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    13歳女児.重度精神遅滞,両眼裂狭小,眼瞼下垂,小眼球,小頭,低身長を呈する症例について報告した.患児は歯の形成や先天性心疾患,指の奇形を伴わず,内眼角贅皮の逆転もないことから,Ohdo眼裂狭小症候群や眼裂狭小症候群とはそれぞれ異なる表現系を呈していた.このような奇形症候群は鑑別診断を要する疾患が多いものの,症候の重複が多く,診断が困難で,単一遺伝子の疾患概念では説明が困難であるものが多いが,本症例に最も近いと思われるOhdo眼裂狭小症候群を中心にその異動について検討した

  146. 無熱性けいれんを主訴に来院した水中毒の2例

    小林 朋子, 羽鳥 誉之, 藤松 真理子, 桑原 健太郎, 藤田 武久, 高石 康子, 藤野 修

    脳と発達　36　(2)　166-166　2004/03

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  147. 初回無熱性発作 てんかん発作と考えられれば直ちに治療を必要とするか

    藤野 修, 藤田 武久, 高石 康子, 桑原 健太郎, 藤松 真理子, 羽鳥 誉之, 小林 朋子, 岡田 一芳, 橋本 清, 福永 慶隆

    日本小児科学会雑誌　108　(2)　309-309　2004/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  148. 初回無熱性発作の臨床的検討 初回てんかん発作後直ちに治療を必要とするか?

    藤野 修, 藤田 武久, 高石 康子, 桑原 健太郎, 岡田 一芳, 藤松 真理子, 川上 康彦, 平山 恒憲, 羽鳥 誉之, 小林 朋子, 橋本 清

    てんかん研究　22　(1)　41-41　2004/02

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  149. 成人期になってからFISH法にて診断しえた,けいれん歴のないAngelman症候群の1例

    平山 恒憲, 小林 朋子, 仁保 幸次

    医療　57　(増刊)　49-49　2003/10

    Publisher: (一社)国立医療学会

    ISSN： 0021-1699

  150. 当院における重症心身障害児の短期入所長期・頻回利用者の背景及び医療的ケアについて

    平山 恒憲, 小林 朋子, 仁保 幸次, 高橋 昇治, 橋本 憲夫, 三浦 宗隆

    医療　57　(増刊)　52-52　2003/10

    Publisher: (一社)国立医療学会

    ISSN： 0021-1699

  151. 目で見る小児科 感冒を契機に発見された縦隔腫瘍の1例

    中島 瑞恵, 上砂 光裕, 今井 大洋, 小林 朋子, 桑原 健太郎, 土屋 正己, 藤野 修, 小泉 潔

    小児科　44　(10)　1461-1462　2003/09

    Publisher: 金原出版(株)

    ISSN： 0037-4121

  152. 成人ダウン症候群の自傷行為,興奮に対してのSSRI(選択的セロトニントランスポーター再取り込み阻害剤)の効果

    平山 恒憲, 小林 朋子, 仁保 幸次, 藤田 武久, 藤野 修

    日本重症心身障害学会誌　28　(2)　77-77　2003/08

    Publisher: 日本重症心身障害学会

    ISSN： 1343-1439

  153. 診断に苦慮した周期性ACTH-ADH放出症候群の1例

    小林 朋子, 桑原 健太郎, 上砂 光裕, 今井 大洋, 浅野 健, 藤野 修

    日本小児科学会雑誌　107　(7)　1052-1052　2003/07

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  154. 片側性小脳炎の9歳女子例

    小林 朋子, 桑原 健太郎, 藤松 真理子, 藤田 武久, 高石 康子, 藤野 修

    脳と発達　35　(3)　271-271　2003/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  155. 先天性無眼球症・小眼球症を伴った重度精神遅滞・脳性麻痺の3例

    小林 朋子, 平山 恒憲, 藤野 修, 藤田 武久

    脳と発達　35　(Suppl.)　S269-S269　2003/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  156. ひきこもりを呈したてんかん症例について

    高石 康子, 藤野 修, 桑原 健太郎, 岡田 一芳, 藤田 武久, 藤松 真理子, 小林 朋子, 橋本 清

    脳と発達　35　(Suppl.)　S300-S300　2003/05

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  157. 初回の無熱性のけいれん・非けいれん性発作で受診した症例の検討

    藤野 修, 藤田 武久, 高石 康子, 桑原 健太郎, 岡田 一芳, 藤松 真理子, 羽鳥 誉之, 小林 朋子, 橋本 清, 福永 慶隆

    日本小児科学会雑誌　107　(2)　305-305　2003/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  158. てんかんの疑いで小児神経外来を受診した症例の検討:初回発作例について

    藤野 修, 藤田 武久, 高石 康子, 桑原 健太郎, 岡田 一芳, 藤松 真理子, 川上 康彦, 平山 恒憲, 羽鳥 誉之, 小林 朋子, 橋本 清

    てんかん研究　21　(1)　62-63　2003/02

    Publisher: (一社)日本てんかん学会

    ISSN： 0912-0890

    eISSN： 1347-5509

  159. インフルエンザ,麻疹罹患時に部分発作重積をきたした若年ミオクロニーてんかん女子

    羽鳥 誉之, 桑原 健太郎, 馬場 千晶, 小林 朋子, 上砂 光裕, 今井 大洋, 土屋 正己, 藤野 修

    日本小児科学会雑誌　106　(10)　1502-1503　2002/10

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  160. 偶然発見された縦隔腫瘍の1例

    折本 瑞恵, 上砂 光裕, 今井 大洋, 小林 朋子, 桑原 健太郎, 土屋 正己, 藤野 修, 小泉 潔

    日本小児科学会雑誌　106　(10)　1506-1506　2002/10

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  161. 非チフス性サルモネラ感染症による急性脳症の1例

    馬場 千晶, 上砂 光裕, 小林 朋子, 桑原 健太郎, 今井 大洋, 土屋 正己, 藤野 修

    日本小児科学会雑誌　106　(10)　1510-1510　2002/10

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  162. 夏型過敏性肺臓炎の1例

    藤村 樹里, 折本 瑞恵, 福井 朋子, 桑原 健太郎, 上砂 光裕, 今井 大洋, 土屋 正己, 藤野 修

    日本小児科学会雑誌　106　(9)　1314-1314　2002/09

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  163. 難治てんかんにプリン代謝異常を併発したと考えられた1例

    川上 康彦, 藤田 武久, 橋本 清, 小林 朋子, 桑原 健太郎, 高石 康子, 藤野 修, 近藤 雅雄

    脳と発達　34　(5)　449-450　2002/09

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  164. サプレッション・バーストを伴う早期乳児てんかん性脳症(EIEE)の1例

    桑原 健太郎, 黒田 奈緒, 小林 朋子, 上砂 光裕, 今井 大洋, 土屋 正己, 藤野 修, 馬場 千晶, 浅野 ありさ, 福永 慶隆

    Journal of Nippon Medical School　69　(4)　399-399　2002/08

    Publisher: 日本医科大学医学会

    ISSN： 1345-4676

    eISSN： 1347-3409

  165. Clobazamが発作抑制に有効であったEIEE(suppression burstを伴う早期乳児てんかん性脳症)の1症例

    桑原 健太郎, 小林 朋子, 川上 康彦, 藤田 武久, 高石 康子, 藤野 修

    脳と発達　34　(4)　367-367　2002/07

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  166. TicとTourette症候群

    桑原 健太郎, 小林 朋子

    小児科　43　(7)　922-927　2002/07

    Publisher: 金原出版(株)

    ISSN： 0037-4121

    More details Close

    Tourette症候群(TS)の疾患概念は修正されてきており,チック症はDSM-IV(1994年)では4種類に,ICD-10分類(1992年)では5つの亜型に分類される.TSの診断には合併する行動異常が参考とされ,最近では問題行動と注意欠陥多動障害,強迫性障害,チック症を合併するものをTSとする考え方もある.チック症の病態としてドーパミンを中心とした脳内神経伝達物質の異常が想定されている.治療は自然軽快を待つことが多いが,社会生活に支障をきたす場合は薬物治療を行う.TS小児の85%は思春期を過ぎると症状が軽減,消失する.TSの知見は今後多くの神経学的障害,行動障害の理解の助けとなると考えられる

  167. 乳児期早期難治性てんかんに対するクロバザムの使用経験

    桑原 健太郎, 小林 朋子, 川上 康彦, 藤田 武久, 岡田 一芳, 高石 康子, 藤野 修

    脳と発達　34　(Suppl.)　S225-S225　2002/06

    Publisher: (一社)日本小児神経学会

    ISSN： 0029-0831

    eISSN： 1884-7668

  168. 急死したてんかん症例の検討

    桑原 健太郎, 小林 朋子, 川上 康彦, 今井 大洋, 高石 康子, 岡田 一芳, 藤田 武久, 藤野 修, 福永 慶隆

    日本小児科学会雑誌　106　(2)　263-263　2002/02

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  169. I F10 Children referred to pediatric neurology clinics eith a first nonfebrile seizure

    Fujino Osamu, Fujita Takehisa, Takaishi Yasuko, Kuwabara Kentarou, Okada Kazuyoshi, Fujimatsu Mariko, Kawakami Yasuhiko, Hirayama Tsunenori, Hatori Takayuki, Kobayashi Tomoko, Hashimoto Kiyoshi

    (36)　150-150　2002

    Publisher: 日本てんかん学会

  170. 極低出生体重児の経時的左心機能評価と周産期合併症との関連性について

    豊島 勝昭, 川滝 元良, 松井 潔, 佐藤 義朗, 難波 由喜子, 福井 朋子, 星野 陸夫, 大山 牧子, 猪谷 泰史, 中澤 誠

    日本新生児学会雑誌　37　(2)　180-180　2001/06

    Publisher: (一社)日本周産期・新生児医学会

    ISSN： 0029-0386

  171. NICUにおける新生児聴覚スクリーニングの検討

    松井 潔, 難波 由喜子, 佐藤 義朗, 福井 朋子, 豊島 勝昭, 星野 陸夫, 川滝 元良, 大山 牧子, 猪谷 泰史, 後藤 彰子

    日本小児科学会雑誌　105　(3)　345-345　2001/03

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  172. 麻疹合併妊娠による双胎一児胎内死亡の1例

    福井 朋子, 星野 陸夫, 大山 牧子, 猪谷 泰史, 加藤 啓輔, 田中 祐吉

    日本小児科学会雑誌　105　(3)　342-342　2001/03

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  173. インフルエンザ及びインフルエンザ様疾患に対するマクロライド系抗生剤の有用性

    福井 朋子, 松平 登志子, 松岡 和彦, 二宮 恵子, 松井 玄代

    日本小児科学会雑誌　104　(10)　1040-1040　2000/10

    Publisher: (公社)日本小児科学会

    ISSN： 0001-6543

  174. A Case of Incontinentia Pigmenti and A review of Extracutaneous Complications in Japanese Literature

    KIKUCHI Izumi, KANEKO Katsumi, HATA Mieko, FUKUI Tomoko, TATSUMA Noriko, YAMAMOTO Masao, NAKAHARA Michiko, IBARAGI Nobuhiro, KAWANA Seiji

    18　(2)　107-110　1999/11/25

    ISSN： 0286-9608

  175. 色素失調症の1例と本邦報告例の皮膚外合併症について

    菊地 伊豆実, 金子 勝美, 畑 三恵子, 福井 朋子, 立麻 典子, 山本 正生, 中原 美和子, 茨木 信博, 川名 誠司

    日本小児皮膚科学会雑誌　18　(2)　161-164　1999/11

    Publisher: 日本小児皮膚科学会

    ISSN： 0286-9608

  176. 1998年秋に流行した麻疹患者の検討 とくに0歳児麻疹について

    西澤 善樹, 池上 英, 小川 耕一, 福井 朋子, 藤松 真理子, 平山 恒憲, 川上 康彦, 小松崎 英樹, 勝部 康弘, 岸 恵

    神奈川医学会雑誌　26　(2)　316-316　1999/07

    Publisher: 神奈川県医師会

    ISSN： 0285-0680

  177. 色素失調症の1例

    菊地 伊豆実, 金子 勝美, 畑 三恵子, 川名 誠司, 福井 朋子, 立麻 典子, 山本 正生, 中原 美和子, 茨木 信博

    日本皮膚科学会雑誌　109　(1)　59-59　1999/01

    Publisher: (公社)日本皮膚科学会

    ISSN： 0021-499X

    eISSN： 1346-8146

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Books and Other Publications 2

  1. ヒト遺伝学アプリを活用した小学校授業 実践事例集 ～自然科学への論理的思考力や創造性を育むための小学生向けヒト遺伝学教材～

    発行者 小林朋子, 赤江里香, 小室安子, 椎名慶, 清岡佳江, 阿部英徳, 多田博茂, 工藤与志文

    東京書籍株式会社 東北支社　2024/06

  2. 家族であそぼ！！遺伝子るんるん学び本

    発行者 小林朋子, 菅原美智子, 鈴木洋一, 長神風二ら, 東北大学東北メディカル, メガバンク機構

    丸善プラネット,丸善出版 (発売)　2019/01

    ISBN: 9784863453906

Presentations 19

  1. 大学研究「モノクロゲノム」への中学生参加ワークショップ Invited

    小林朋子, 酒井聡, 澤口俊輔, 福永義行, 塩飽修身

    岡山県立岡山操山中学校 課外授業　2024/08/27

  2. 国民の未来型医療理解増進のためのゲノム医学普及啓発 ～東北メディカル・メガバンク機構でのゲノム医療の実現化への取り組み～ Invited

    小林朋子

    宮城県仙台向山高等学校 アカデミック・インターンシップ　2024/07/30

  3. 5歳児健診：「東北メディカル・メガバンク計画2020での取組み」から「全国での現状」まで Invited

    小林朋子

    超早産児神経発達症研究会 第1回学術集会　2024/06/09

  4. 国民の未来型医療理解増進のためのゲノム医学普及啓発 ～東北メディカル・メガバンク機構でのゲノム医療の実現化への取り組み～ Invited

    小林朋子

    大阪府立天王寺高等学校 SSH（スーパーサイエンスハイスクール）事業　2024/01/16

  5. 宮城県初の5歳児発達健診：東北メディカル・メガバンク計画における三世代コホート調査参加児を対象とする予備的調査 Invited

    小林 朋子

    日本発達支援学会 第2回大会　2020/10/31

  6. 遺伝学的検査を受けることの意義を市民に伝えるドラマ「知ること、知らないこと」の制作/普及活動

    第8回日本HBOCコンソーシアム学術総会　2020/01/26

  7. 「気になる」子どもの発達特性の把握と支援のために Invited

    小林朋子

    宮城県国公立幼稚園・こども園協議会 園長会　2019/12/13

  8. 親子で学ぼう!! 遺伝子ってなんだろう?～ドクターすにっぷが自由研究のお手伝い!～ Invited

    小林朋子

    臨床遺伝2019 in Sapporo(第43回日本遺伝カウンセリング学会・第26回日本遺伝子診療学会合同学術集会)　2019/08/04

  9. 遺伝子診断を考える（臨床の現場からの報告）:短編ドラマ「知ること、知らないこと」上映と解説 Invited

    小林朋子

    秋田県立秋田高等学校 進路講演会　2019/03/08

  10. ゲノム医療実用化に係る専門的知識・情報の新しい伝え方の開発と実践：ドラマ「知ること、知らないこと－遺伝子を調べることで生じることとは？－」を活用した対話を組み入れた生物授業プログラムの研究開発の取組

    小林朋子, 金子敦, 加納圭, 川上雅弘, 長神風二

    日本生物教育学会第103回全国大会　2019/01/13

  11. バイオバンクにおけるコホート研究参加者への遺伝情報開示を検討する中で開発されたゲノム医学普及啓発コンテンツ Invited

    小林朋子

    第4回日本産科婦人科遺伝診療学会学術講演会　2018/12/14

  12. 遺伝診断を考える（臨床の現場からの報告） Invited

    小林朋子

    早稲田大学系属早稲田実業学校;生物特論　2018/11/24

  13. ドラマ「知ること、知らないこと－遺伝子を調べることで生じることとは？－」上映 Invited

    小林朋子

    一般社団法人日本遺伝性乳癌卵巣癌総合診療制度機構（JOHBOC）主催：第5回HBOC教育セミナー　2018/11/03

  14. ドラマ「知ること、知らないこと－遺伝子を調べることで生じることとは？－」上映 Invited

    小林 朋子

    第70回日本産科婦人科学会学術講演会　2018/05/11

  15. 病原菌と感染源が特定できた乳児ボツリヌス症

    小林朋子, 土屋滋

    第42回日本小児感染症学会総会・学術集会　2010/11/27

  16. (C.C.)便秘で発症し、急速に呼吸不全を呈した1例 Invited

    小林 朋子

    第38回小児神経学セミナー　2008/11/23

  17. 東北大学東北メディカル・メガバンク計画における5歳児発達調査 ～発達特性の把握と発達支援に関する研究～ Invited

    小林朋子

    第12回東北発達障害研究会　2020/02/15

  18. ゲノム医療実用化の観点から「細胞を創る」を教える Invited

    小林朋子

    「細胞を創る」研究会 11.0　2018/10/19

  19. 原因不明の精神運動発達遅滞とてんかんで受診し確定診断に至った6歳児～マイクロアレイ染色体検査の有用性～ Invited

    小林朋子

    宮城県小児科医会学術講演会　2014/01/09

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Industrial Property Rights 1

  1. モノクロゲノム

    登録商標第6702080号

    Property Type:

    Holder: 国立大学法人東北大学

Research Projects 16

  1. 視線とゲノムのAI解析による読字障害制御法の創発

    小林朋子

    Offer Organization: 科学技術振興機構（JST）

    System: 創発的研究支援事業

    Category: 第5期

    2025/10 - 2029/03

  2. 日本における熱性けいれんの遺伝的背景と発症機序解明への挑戦

    小林朋子, 元池育子, 植松 貢

    Offer Organization: 公益財団法人てんかん治療研究振興財団

    System: 2025年度研究助成（臨床）

    Institution: 東北大学 東北メディカル・メガバンク機構

    2025/04 - 2028/03

  3. 読字障害特性を評価・診断し、それに応じた支援・療育が可能な一般医療機器の開発

    小林朋子,他

    Offer Organization: 日本医療研究開発機構（AMED）

    System: 橋渡し研究プログラム シーズA

    Institution: 東北大学 東北メディカル・メガバンク機構

    2025/04 - 2026/03

  4. 出生前検査に関する情報提供体制、遺伝カウンセリング体制、支援体制の 構築のための研究

    三宅秀彦, 他

    Offer Organization: こども家庭庁

    System: こども家庭科学研究費補助金

    Institution: 成育疾患克服等次世代育成基盤研究事業

    2023/04 - 2026/03

  5. ゲノムコホート研究でのインフォームド・アセント用ＩＣＴ資材開発と評価に関する研究

    小林朋子, 浅井篤, 工藤与志文, 石山ゐづ美

    Offer Organization: 日本学術振興会

    System: 科学研究費助成事業 基盤研究(Ｂ)

    Category: 基盤研究(Ｂ)

    Institution: 東北大学

    2021/04 - 2026/03

  6. 視線計測による読みの困難さの評価および日常的な読みの支援のための教育デバイスの社会実装に向けた予備的調査

    Offer Organization: 東北大学

    System: スタートアップ創出支援 ビジネス・インキュベーション・プログラム（BIP）Pre-BIP

    Institution: 東北大学 東北メディカル・メガバンク機構

    2024/06 - 2025/03

  7. 児童における日本語の読みの困難さの病態解明

    小林朋子、小林美佳、小池敏英

    Offer Organization: 公益財団法人川野小児医学奨学財団

    System: 第35回研究助成

    Institution: 東北大学 東北メディカル・メガバンク機構

    2024/04 - 2025/03

  8. 日本語の読書中の視線パターンは、児童の発達特性の評価指標になり得るか？

    小林朋子, 高橋立子

    Offer Organization: 博報堂教育財団

    System: 児童教育実践についての研究助成

    Institution: 東北大学 東北メディカル・メガバンク機構

    2023/04 - 2025/03

  9. 自然科学（主に生物学）への倫理的思考力や創造性を育むための「ICTを活用した小学生向けヒト遺伝学教育用教材パッケージ」開発

    小林朋子, 工藤良幸, 赤江里香, 小室安子, 椎名慶, 清岡佳江

    Offer Organization: 公益財団法人 中谷医工計測技術振興財団

    System: 科学教育振興助成

    Category: 意欲的な小学校の先生方を支援するプログラム

    Institution: 東北大学

    2022/04 - 2025/03

  10. 出生前診断の提供等に係る体制の構築に関する研究

    小西郁生, 他

    Offer Organization: 厚生労働行政推進調査事業費

    System: 成育疾患克服等次世代育成基盤研究事業

    Institution: 京都大学：第3期小西班

    2020/04 - 2024/06

  11. Developmet of Medical Education Program for Understanding about Genetic Medicine

    Tomoko Kobayashi

    Offer Organization: Japan Medical Education Foundation

    2020/04 - 2022/03

  12. Developing and evaluating educational tools to teach elementary school student human genetics by ICT

    Kobayashi Tomoko

    Offer Organization: Japan Society for the Promotion of Science

    System: Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)

    Category: Grant-in-Aid for Scientific Research (C)

    Institution: Tohoku University

    2017/04 - 2021/03

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    As a "human genetics education tool for elementary school students", we produced paper and electronic media products. As a paper medium, we produced a booklet "Play with Parents and Children !! Gene Runrun Learning Book" and a book "Play with Family !! Gene Runrun Learning Book". As an electronic medium, we have created three types of applications that can be used as supplementary materials for elementary school lessons (second grade class activities, third grade morals, and fifth grade science) in accordance with the elementary school guidance guidelines.

  13. 一般市民の遺伝リテラシ―向上を目的とした制作物の現状把握と遺伝情報の特徴の理解に向けた短編映像の制作

    小林朋子

    Offer Organization: 国立研究開発法人日本医療研究開発機構 委託研究開発費

    System: 若手研究者による研究倫理の国民への伝え方に関する研究事業（ゲノム医療実用化に係るELSI分野）

    Institution: 東北大学 東北メディカル・メガバンク機構

    2018/04 - 2019/03

  14. 出生前診断実施時の遺伝カウンセリング体制の構築に関する研究

    小西郁生, 他

    Offer Organization: 厚生労働科学研究費

    System: 成育疾患克服等次世代育成基盤研究事業

    Institution: 京都大学：第2期小西班

    2017/04 - 2019/03

  15. 一般市民の遺伝リテラシ―向上を目的とした制作物の現状把握と遺伝情報の特徴の理解に向けた短編映像の制作

    小林朋子

    Offer Organization: 国立研究開発法人日本医療研究開発機構 委託研究開発費

    System: 研究倫理に関する情報共有と国民理解の推進事業（ゲノム医療実用化に係るELSI分野）

    Institution: 東北大学東北メディカル・メガバンク機構

    2016/12 - 2018/03

  16. Understanding the pathogenic mechanism for Noonan syndrome with RAF1 mutation

    KOBAYASHI Tomoko, KURE Shigeo, KAWAME Hiroshi, MATSUBARA Yoichi

    Offer Organization: Japan Society for the Promotion of Science

    System: Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)

    Category: Grant-in-Aid for Scientific Research (C)

    Institution: Tohoku University

    2012/04 - 2016/03

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    （1） To collect detailed symptomes of 9 Noonan syndrome patients with RAF1 mutation has revealed longer-term natural history such as 4 cases died before school age and 4 patients in 5 cases go to a resource room. （２) We build the system needed that patient with multiple malformations such as Noonan syndrome is genetically diagnosed. Concretely speaking, we innovated chromosomal microarray analysis. Additionally, systematic review has revealed psychosocial impact of chromosomal microarray analysis for patient's family. In the result, we make a recommendation about existence of genetic counceling before and after chromosomal microarray analysis.

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Teaching Experience 5

  1. 行動科学「臨床医学・医学研究紹介」　東北大学 医学部 医学科 1年生

  2. 腫瘍学演習　福島県立医科大学 医学部 医学科 2年生

  3. ゲノム・染色体・遺伝子　信州大学 医学部 医学科 1年生

  4. 看護技術論IV　東北大学 医学部 保健学科 3年生

  5. 代謝と遺伝　金沢医科大学 医学部 医学科 1年生

Works 8

  1. https://www.gemeed.megabank.tohoku.ac.jp/mono2025/index.html

    2025/03 - Present

    Type: Educational material

  2. Monochrome Genome: Earth Edition

    2024/03 - Present

    Type: Educational material

  3. Monochrome Genome

    2023/03 - Present

    Type: Educational material

  4. 「遺伝医療・ゲノム医療」理解促進のための医学教育プラグラム

    小林朋子

    2022/03 - Present

    Type: Educational material

  5. アプリケーション 「ICTを活用した小学生向けヒト遺伝学教育ツール」

    小林朋子, 赤江里香, 清岡佳江, 小室安子, 椎名慶, 飯野正義, 多田博茂, 工藤与志文

    2021/03 - Present

    Type: Educational material

  6. 市民の方々に遺伝子・ゲノムについて知って頂くための資料をご案内するカタログサイト

    小林朋子, 長神風二

    2019/02 - Present

    Type: Database

  7. ドラマ「知ること、知らないこと－遺伝子を調べることで生じることとは？－」

    小林朋子

    2019/01 - Present

    Type: Educational material

  8. 市民公開講座DVD「ゲノムを学ぶ がんと遺伝」

    小林朋子, 新堀哲也, 川村真亜子

    2023/03 -

    Type: Educational material

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Social Activities 23

  1. 遺伝学的検査が家にやってくる！？（オンライン版）

    サイエンスアゴラ 2020

    2020/11/15 - 2020/11/22

  2. 家族で学ぼう！！遺伝子ってなんだろう？

    夏休み2019 宿題★自由研究 大作戦

    2019/08/09 - 2019/08/10

  3. 遺伝子診断を考える（臨床の現場からの報告）:短編ドラマ「知ること、知らないこと」上映と解説

    進路講演会

    2019/03/08 - 2019/03/08

  4. 親子で学ぼ！！遺伝子ってなんだろう？

    夏休み2018 宿題★自由研究 大作戦

    2018/08/09 - 2018/08/10

  5. ToMMo 特別展示「未来の医療をつくる」ドラマ「知ること、知らないこと－遺伝子を調べることで生じることとは？－」上映会

    東北大学オープンキャンパス

    2018/07/31 - 2018/08/01

  6. ドラマ「遺伝学的検査が家にやってくる!?」

    サイエンスアゴラ

    2017/11/24 - 2017/11/26

  7. 国民の未来型医療理解増進のための ゲノム医学普及啓発 ～東北メディカル・メガバンク機構での ゲノム医療の実現化への取り組み～

    アカデミック・インターンシップ

    2024/07/30 -

  8. 病気回復期の援助と特性のあるこどもの理解

    2024/07/23 -

  9. 子どもの感染症と緊急時の対応

    2024/02/20 -

  10. 国民の未来型医療理解増進のためのゲノム医学普及啓発

    SSH（スーパーサイエンスハイスクール）事業

    2024/01/16 -

  11. 赤ちゃん・子どもの病気 ～急患センターに行くときはどんなとき？！～

    仙台すくすくサポート事業 会員研修会

    2019/12/04 -

  12. ゲノム医療と未来のデザイン映像で知るゲノム医療と遺伝カウンセリング

    未来社会のデザインを考えるシリーズ

    2019/02/23 -

  13. 遺伝診断を考える（臨床の現場からの報告）

    生物特論

    2018/11/24 -

  14. ドラマ「知ること、知らないこと－遺伝子を調べることで生じることとは？－」上映

    第5回HBOC教育セミナー

    2018/11/03 -

  15. 赤ちゃん・子どもの病気～急患センターに行くのはどんな時！？～

    つながる子育て講座

    2018/09/04 -

  16. 事故と夏の感染症

    仙台すくすくサポート事業 会員研修会

    2017/07/25 -

  17. 冬の感染症のホームケア―

    仙台すくすくサポート事業 会員研修会

    2016/12/01 -

  18. 冬の感染症のホームケア―

    仙台すくすくサポート事業 会員研修会

    2015/12/02 -

  19. 病気時の援助で留意すること

    仙台すくすくサポート事業 会員研修会

    2014/06/05 -

  20. 病気時の援助で留意すること

    仙台すくすくサポート事業 会員研修会

    2013/12/03 -

  21. 乳幼児の病気と事故

    仙台すくすくサポート事業 会員研修会

    2012/06/06 -

  22. 抗てんかん薬～最近、本邦でも使用可能となった薬剤を含めて～

    「科学的根拠に基づくファーマシューティカルケアの実践を目指してシリーズ2」

    2012/03/18 -

  23. 乳幼児の病気と事故

    仙台すくすくサポート事業 会員研修会

    2011/06/07 -

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Media Coverage 9

  1. 遺伝子やゲノムを楽しく学べる！ e-Learningコンテンツ「モノクロゲノム(R)」とは？

    株式会社QLife（キューライフ）　遺伝性疾患プラス　https://genetics.qlife.jp/articles/life-tips/20250707support11

    2025/07

    Type: Internet

  2. 人の遺伝学びを深めて 東北大 アプリ活用の事例集作製 Myself

    河北新報　朝刊 13面

    2024/11/07

    Type: Newspaper, magazine

  3. 「最新ゲノム医療」を解説 Myself

    河北新報　朝刊 4面

    2023/03/14

    Type: Newspaper, magazine

  4. 東北大が小学生向けアプリ Myself

    河北新報　朝刊 19面

    2022/05/28

    Type: Newspaper, magazine

  5. 孫へ贈りたい！ 子どもも大人も勉強になる遊びながら遺伝子を学べる本

    仙台経済界　2019.7-8月号 ｐ71

    2019/06/25

    Type: Newspaper, magazine

  6. 遊ぼう学ぼう 遺伝子の世界 子ども向け書籍出版

    河北新報社　朝刊 16面 社会

    2019/01/31

    Type: Newspaper, magazine

  7. 遺伝子ってなあに？ー易しく解説 親子向け教材冊子を作成

    河北新報社　朝刊 16版 社会

    2017/04/24

    Type: Newspaper, magazine

  8. 子どもの未来を考えたメディアとの関わり方／言語能力の発達に影響

    河北新報　リレーエッセイ 医進伝心 第31回

    2015/06/03

    Type: Newspaper, magazine

  9. 子供の低身長はどうすればいいでしょうか？

    三陸新報　元気な街づくりは健康から 49

    2015/04/28

    Type: Newspaper, magazine

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Other 2

  1. 仙台市主催 遺伝カウンセリング（遺伝相談）

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    担当医師

  2. 仙台市主催 仙台すくすくサポート事業

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    小児科学普及啓発担当