東京医科歯科大学小児科

東京医科歯科大学小児科は、日常的な小児医療から難病の治療まで、
患者様の立場に立った優しい医療を行っています。

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業績

2019年 業績集

東京医科歯科大学大学院医歯学総合研究科年報 2019年

研究業績（原著論文）
  1. Kei Takasawa, Atsumi Tsuji-Hosokawa, Shigeru Takishima, Yasunori Wada, Keisuke Nagasaki, Sumito Dateki, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio. Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene. J Diabetes. 2019.01; 11(1); 46-54
  2. Keiichi Iwanami, Tsubasa Okano, Osamu Ohara, Tomohiro Morio. Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema. Intern Med. 2019.01; 58(2); 213-216
  3. Mari Kubota-Tanaka, Tomoo Osumi, Shouko Miura, Hiroshi Tsujimoto, Toshihiko Imamura, Akira Nishimura, Kentaro Oki, Kozue Nakamura, Satoshi Miyamoto, Kento Inoue, Maiko Inoue, Takahiro Kamiya, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Takeshi Isoda, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Shinji Kounami, Mikiya Endo, Motohiro Kato, Masatoshi Takagi. B-lymphoblastic lymphoma with the TCF3-PBX1 fusion gene. Haematologica. 2019.01; 104(1); 35-37
  4. Egawa M, Imai K, Taketani Y, Morio T, Miyasaka N. Two Prenatal Cases of Hyper-IgE Syndrome. J. Clin. Immunol. 2019.01;39(1): 15-18
  5. Masatoshi Takagi, Chitose Ogawa, Yuki Aoki-Nogami, Tomoko Iehara, Eri Ishibashi, Minoru Imai, Tetsuro Kihara, Kiyoshi Nobori, Kazuhisa Hasebe, Shuki Mizutani, Toshimi Kimura, Masashi Nagata, Masato Yasuhara, Kenichi Yoshimura, Pariko Yorozu, Hajime Hosoi, Ryuji Koike. Phase I clinical study of oral olaparib in pediatric patients with refractory solid tumors: study protocol. BMC Pediatr. 2019.01; 19(1); 31
  6. 西村聡, 星野顕宏, 松本和明, 小野真太郎, 田中真理, 石渡泰芳, 安原眞人, 足洗美穂, 満生紀子, 樋口紘平, 井上雅美, 宮村能子, 橋井佳子, 柳町昌克, 磯田健志, 梶原道子, 高木正稔, 水谷修紀, 金兼弘和, 今井耕輔, 森尾友宏. X 連鎖高IgM 症候群に対するフルダラビン ブスルファンを用いた強度減弱前処置による造血細胞移植 日本造血細胞移植学会雑誌. 2019.01; 8(1); 43-49
  7. Ayako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, Hiroshi Shiraku, Kengo Moriyama, Tomonori Suzuki, Keisuke Nakajima, Tomoko Mizuno, Kohsuke Imai, Yuji Sugawara, Tomohiro Morio, Satoko Kumada, Masatoshi Takagi. Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. Brain Dev. 2019.02; 41(2); 150-157
  8. Kay Tanita, Akihiro Hoshino, Ken-Ichi Imadome, Takahiro Kamiya, Kento Inoue, Tsubasa Okano, Tzu- Wen Yeh, Masakatsu Yanagimachi, Akira Shiraishi, Masataka Ishimura, Tilmann Schober, Meino Rohlfs, Masatoshi Takagi, Kohsuke Imai, Hidetoshi Takada, Shouichi Ohga, Christoph Klein, Tomohiro Morio, Hirokazu Kanegane. Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation. Front Pediatr. 2019.02; 7; 15
  9. Nagatsuma Misako, Takasawa Kei, Yamauchi Takeru, Nakagawa Ryuichi, Mizuno Tomoko, Tanaka Eriko, Yamamoto Kouhei, Uemura Noriko, Kashimada Kenichi, Morio Tomohiro. 脂肪腫症、腎血管性高血圧および糖尿病を呈する Schimmelpenning 症候群患者における接合後の KRAS 変異 (A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus) Journal of Human Genetics. 2019.02; 64(2); 177-181
  10. Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K. A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clinical and experimental nephrology. 2019.02; 23(2); 158−168
  11. 菅原祐之, 平田航, 金田朋也, 佐藤薫, 平石千佳, 佐藤健, 竹田清香, 松田希, 滝島茂, 石橋奈保子, 長谷川毅, 山内泰輔, 鈴木智典, 水野朋子, 森尾友宏. ヘルメット療法施行中に頭蓋内疾患が診断された 2 例 日本小児科学会雑誌. 2019.02; 123(2); 417
  12. 山内泰輔, 水野朋子, 山内建, 森山剣光, 鈴木智典, 鹿島田健一, 森尾友宏. 成長障害の精査過程で MERRF と診断した一例 日本小児科学会雑誌. 2019.02; 123(2); 472
  13. Yuichi Miyakawa, Kei Takasawa, Yohei Matsubara, Kenji Ihara, Yoshiaki Ohtsu, Hotaka Kamasaki, Kazuteru Kitsuda, Hironori Kobayashi, Mari Satoh, Sinichiro Sano, Sumito Dateki, Hiroshi Mochizuki, Ichiro Yokota, Yukihiro Hasegawa, Kenichi Kashimada. Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood. Endocr. J. 2019.03; 66(3); 215-221
  14. 牧浦亜紀子, 森山剣光, 横山はるな, 馬場信平, 森尾友宏. 幼児期より、自閉スペクトラム症としてフォローされていたグルコーストランスポーター 1 欠損症の 1 例 小児科臨床. 2019.03; 72(3); 287-292
  15. Keiichi Fukuda, Hiroshi Date, Shozaburo Doi, Yoshihiro Fukumoto, Norihide Fukushima, Masaru Hatano, Hiroshi Ito, Masataka Kuwana, Hiromi Matsubara, Shin-Ichi Momomura, Masaharu Nishimura, Hitoshi Ogino, Toru Satoh, Hiroaki Shimokawa, Keiko Yamauchi-Takihara, Koichiro Tatsumi, Hatsue Ishibashi- Ueda, Norikazu Yamada, Shunji Yoshida, Kohtaro Abe, Aiko Ogawa, Takeshi Ogo, Takatoshi Kasai, Masaharu Kataoka, Takashi Kawakami, Shigetoyo Kogaki, Mashio Nakamura, Tomotaka Nakayama, Mari Nishizaki, Koichiro Sugimura, Nobuhiro Tanabe, Ichizo Tsujino, Atsushi Yao, Takashi Akasaka, Motomi Ando, Takeshi Kimura, Takayuki Kuriyama, Norifumi Nakanishi, Toshio Nakanishi, Hiroyuki Tsutsui. Guidelines for the Treatment of Pulmonary Hypertension (JCS 2017/JPCPHS 2017). Circ. J. 2019.03; 83(4); 842-945
  16. Zeinab A El-Sayed, Irina Abramova, Juan Carlos Aldave, Waleed Al-Herz, Liliana Bezrodnik, Rachida Boukari, Ahmed Aziz Bousfiha, Caterina Cancrini, Antonio Condino-Neto, Ghassan Dbaibo, Beata Der- falvi, Figen Dogu, J David M Edgar, Brian Eley, Rasha Hasan El-Owaidy, Sara Elva Espinosa-Padilla, Nermeen Galal, Filomeen Haerynck, Rima Hanna-Wakim, Elham Hossny, Aydan Ikinciogullari, Ebtihal Kamal, Hirokazu Kanegane, Nadia Kechout, Yu Lung Lau, Tomohiro Morio, Viviana Moschese, Joao Farela Neves, Monia Ouederni, Roberto Paganelli, Kenneth Paris, Claudio Pignata, Alessandro Plebani, Farah Naz Qamar, Sonia Qureshi, Nita Radhakrishnan, Nima Rezaei, Nelson Rosario, John Routes, Berta Sanchez, Anna Sediva, Mikko Rj Seppanen, Edith Gonzalez Serrano, Anna Shcherbina, Surjit Singh, Sangeetha Siniah, Guiseppe Spadaro, Mimi Tang, Ana Maria Vinet, Alla Volokha, Kathleen E Sullivan. X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world. World Allergy Organ J. 2019.03; 12(3); 100018
  17. 山内泰輔, 水野朋子, 鈴木智典, 鹿島田彩子, 今井耕輔, 高木正稔, 叶内匡. SCN4A 遺伝子変異が同定されたNa チャネルミオトニアの 1 例 脳と発達. 2019.03; 51(2); 124
  18. 森雅亮, 土井庄三郎, 石井卓, 前田佳真, 柳町昌克. 川崎病の早期診断および治療不応例における新規川崎病識別タンパクの有用性 心臓. 2019.03; 51(3); 360-362
  19. Eri Kumaki, Keisuke Tanaka, Kohsuke Imai, Yuki Aoki-Nogami, Akira Ishiguro, Satoshi Okada, Hirokazu Kanegane, Fumihiko Ishikawa, Tomohiro Morio. Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. Int J Hematol. 2019.04; 109(4); 382-389
  20. Risa Nomura, Kenichi Kashimada, Hitomi Suzuki, Liang Zhao, Atsumi Tsuji-Hosokawa, Hideo Yagita, Masatoshi Takagi, Yoshiakira Kanai, Josephine Bowles, Peter Koopman, Masami Kanai-Azuma, Tomohiro Morio. Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling. J. Cell. Sci. 2019.04; 132(8); jcs223768
  21. 末永祐太, 吉本優里, 大熊喜彰, 兼重昌夫, 田中瑞恵, 瓜生英子, 山中純子, 水上愛弓, 五石圭司, 佐藤典子, 今井耕輔, 金兼弘和, 七野浩之. 血便を初発症状とし、若年性骨髄単球性白血病様所見を呈した Wiskott-Aldrich 症候群 小児科. 2019.04; 60(4); 417-421
  22. H Sasaki, A Takamura, K Kawahata, T Takashima, K Imai, T Morio, H Kohsaka. Peripheral blood lymphocyte subset repertoires are biased and reflect clinical features in patients with dermatomyositis. Scand J Rheumatol. 2019.05; 48(3); 225-229
  23. Motoi Yamashita, Ryosuke Wakatsuki, Tamaki Kato, Tsubasa Okano, Shingo Yamanishi, Nobuko Mayumi, Mayuri Tanaka, Yumi Ogura, Hirokazu Kanegane, Shigeaki Nonoyama, Kohsuke Imai, Tomohiro Morio. A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency. Int. J. Hemato. 2019.05; 109(5); 603-611
  24. 水野朋子, 山内泰輔, 鈴木智典, 鹿島田彩子, 岡野翼, 今井耕輔, 高木正稔, 野村莉紗, 渡辺章充. KBG 症候群は Dandy-Walker variant を合併する 脳と発達. 2019.05; 51(Suppl.); S362
  25. Matsuura Yuko, Daimon Masao, Notomi Yuuichi, Miyasaka Naoyuki, Yamaguchi Yohei, Doi Shozaburo. Feasibility and Reproducibility of Fetal Left Ventricular Twist Using Two-Dimensional Speckle-Tracking Analysis in a Japanese Population International Heart Journal. 2019.05; 60(3); 671-678
  26. 岡本健太郎, 伊藤佳史, 水野裕貴, 四手井綱則, 勝屋恭子, 青木龍, 森丘千夏子, 滝敦子, 森尾友宏, 宮坂尚幸. 新生児期発症の胃食道逆流症に対する漢方薬の使用経験 産婦人科漢方研究のあゆみ. 2019.05; 36; 39-43
  27. Sawada H, Mitani Y, Nakayama T, Fukushima H, Kogaki S, Igarashi T, Ichida F, Ono Y, Nakanishi T, Doi S, Ishikawa S, Matsushima M, Yamada O, Saji T. Detection of Pediatric Pulmonary Arterial Hypertension by School Electrocardiography Mass Screening. American journal of respiratory and critical care medicine. 2019.06; 199(11); 1397-1406
  28. Hoshino A, Kanegane H, Nishi M, Tsuge I, Tokuda K, Kobayashi I, Imai K, Morio T, Takagi M. Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome. Clin. Immunol. 2019.06; 203; 9-13
  29. Takashi Okumura, Yumi Horie, Chen-Yi Lai, Huan-Ting Lin, Hirofumi Shoda, Bunki Natsumoto, Keishi Fujio, Eri Kumaki, Tsubasa Okano, Shintaro Ono, Kay Tanita, Tomohiro Morio, Hirokazu Kanegane, Hisanori Hasegawa, Fumitaka Mizoguchi, Kimito Kawahata, Hitoshi Kohsaka, Hiroshi Moritake, Hiroyuki Nunoi, Hironori Waki, Shin-Ichi Tamaru, Takayoshi Sasako, Toshimasa Yamauchi, Takashi Kadowaki, Hiroyuki Tanaka, Sachiko Kitanaka, Ken Nishimura, Manami Ohtaka, Mahito Nakanishi, Makoto Otsu. Robust and highly efficient hiPSC generation from patient non-mobilized peripheral blood-derived CD34+ cells using the auto-erasable Sendai virus vector. Stem Cell Res Ther. 2019.06; 10(1); 185
  30. 大川哲平, 森尾友宏. 【Down 症候群の医療管理】医療管理 易感染性の管理 小児内科. 2019.06; 51(6); 828-832
  31. 齋藤洋子, 宮井健太郎, 高澤啓, 鹿島田健一. Carbamazepine 内服中に自然寛解したBasedow 病の 1 例 小児科臨床. 2019.07; 72(7); 845-848
  32. 亀井宏一, 佐藤舞, 小椋雅夫, 金森透, 奥津美夏, 石和翔, 西健太朗, 小椋雅夫, 澤井俊宏, 奥田雄介, 義岡孝子, 緒方謙太郎, 石倉健司. 半月体形成性腎炎を呈したC3腎炎の4歳女児 日本小児腎不全学会雑誌. 2019.07; 39; 119-122
  33. Katsutsugu Umeda, Hiromasa Yabe, Koji Kato, Kohsuke Imai, Masao Kobayashi, Yoshiyuki Takahashi, Nao Yoshida, Maho Sato, Yoji Sasahara, Keisuke Kato, Souichi Adachi, Yuhki Koga, Keiko Okada, Masami Inoue, Yoshiko Hashii, Yoshiko Atsuta, Tomohiro Morio. Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning. Bone Marrow Transplant. 2019.08; 54(8); 1227-1236
  34. Tomoko Mizuno, Ayako Kashimada, Toshihiro Nomura, Kengo Moriyama, Haruna Yokoyama, Setsuko Hasegawa, Masatoshi Takagi, Shuki Mizutani. Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. Brain Dev. 2019.08; 41(7); 630-633
  35. Ishiwa S, Sato M, Morisada N, Nishi K, Kanamori T, Okutsu M, Ogura M, Sako M, Kosuga M, Kamei K, Ito S, Nozu K, Iijima K, Ishikura K. Association Between the Clinical Presentation of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) and Gene Mutations: An Analysis of 66 Patients at a Single Institution. Pediatr Nephrol. 2019.08; 34(8); 1457-1464
  36. 小宅桃子, 山内泰輔, 我有茉希, 鈴木智典, 高澤啓, 水野朋子, 鹿島田健一, 森尾友宏. 糖尿病性ケトアシドーシスを発症した MERRF の 1 例 日本小児科学会雑誌. 2019.08; 123(8); 1317
  37. Hayase T, Ikeda T, Yoshimoto T, Imai K, Morimoto A. Fatal idiopathic pneumonia syndrome in Artemis deficiency. Pediatr Int. 2019.09; 61(9); 929-931
  38. Makiko Egawa, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio, Naoyuki Miyasaka. Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy. J. Matern. Fetal. Neonatal. Med. 2019.09; 32(18); 3092-3096
  39. Akihiro Iguchi, Yuko Cho, Hiromasa Yabe, Shunichi Kato, Koji Kato, Junichi Hara, Katsuyoshi Koh, Junko Takita, Takashi Ishihara, Masami Inoue, Kohsuke Imai, Hideki Nakayama, Yoshiko Hashii, Akira Morimoto, Yoshiko Atsuta, Tomohiro Morio. Long-term outcome and chimerism in patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation: a retrospective nationwide survey. Int. J. Hematol. 2019.09; 110(3); 364-369
  40. Atsushi Watanabe, Takeshi Inukai, Keiko Kagami, Masako Abe, Masatoshi Takagi, Takashi Fukushima, Hiroko Fukushima, Toru Nanmoku, Kiminori Terui, Tatsuya Ito, Tsutomu Toki, Etsuro Ito, Junya Fujimura, Hiroaki Goto, Mikiya Endo, Thomas Look, Mark Kamps, Masayoshi Minegishi, Junko Takita, Toshiya Inaba, Hiroyuki Takahashi, Akira Ohara, Daisuke Harama, Tamao Shinohara, Shinpei Somazu, Hiroko Oshiro, Koshi Akahane, Kumiko Goi, Kanji Sugita. Resistance of t(17;19)-acute lymphoblastic leukemia cell lines to multiagents in induction therapy. Cancer Med. 2019.09; 8(11); 5274-5288
  41. Yusuke Tozawa, Shimaa Said Mohamed Ali Abdrabou, Natsuko Nogawa-Chida, Ritsuo Nishiuchi, Toshiaki Ishida, Yuichi Suzuki, Hideki Sano, Ryoji Kobayashi, Kenji Kishimoto, Osamu Ohara, Kohsuke Imai, Takuya Naruto, Kunihiko Kobayashi, Tadashi Ariga, Masafumi Yamada. A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM). Clin. Immunol. 2019.09; 108256
  42. Minako Mori, Asuka Hira, Kenichi Yoshida, Hideki Muramatsu, Yusuke Okuno, Yuichi Shiraishi, Michiko Anmae, Jun Yasuda, Shu Tadaka, Kengo Kinoshita, Tomoo Osumi, Yasushi Noguchi, Souichi Adachi, Ryoji Kobayashi, Hiroshi Kawabata, Kohsuke Imai, Tomohiro Morio, Kazuo Tamura, Akifumi Takaori- Kondo, Masayuki Yamamoto, Satoru Miyano, Seiji Kojima, Etsuro Ito, Seishi Ogawa, Keitaro Matsuo, Hiromasa Yabe, Miharu Yabe, Minoru Takata. Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. Haematologica. 2019.10; 104(10); 1962-1973
  43. Maeda Y, Takasawa K, Ishii T, Nagashima A, Mouri M, Kunieda J, Morisaki H, Ito T, Mori M, Kashimada K, Doi S, Morio T. A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality. Cardiology. 2019.10; 1-7
  44. Sutani A, Miyakawa Y, Tsuji-Hosokawa A, Nomura R, Nakagawa R, Nakajima K, Maru M, Aoki Y, Takasawa K, Takagi M, Imai K, Kashimada K, Morio T. Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2019.10; 28(4); 105-112
  45. Ibusuki A, Nishikawa T, Hiraki T, Okano T, Imai K, Kanegane H, Ohnishi H, Kato Z, Fujii K, Tanimoto A, Kawano Y, Kanekura T. Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene. J. Dermatol. 2019.11; 46(11); 1019-1023
  46. Setsuko Hasegawa, Satoko Kumada, Naoyuki Tanuma, Atsumi Tsuji-Hosokawa, Ayako Kashimada, Tomoko Mizuno, Kengo Moriyama, Yuji Sugawara, Ikuko Shirai, Yohane Miyata, Hiroya Nishida, Hideaki Mashimo, Takeshi Hasegawa, Takatoshi Hosokawa, Hiroaki Hisakawa, Mitsugu Uematsu, Akio Fujine, Rie Miyata, Hiroshi Sakuma, Kenichi Kashimada, Kohsuke Imai, Tomohiro Morio, Masaharu Hayashi, Shuki Mizutani, Masatoshi Takagi. Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia. Pediatr Neurol. 2019.11; 100; 60-66
  47. Takeru Yamauchi, Kei Takasawa, Takahiro Kamiya, Shizuka Kirino, Maki Gau, Kento Inoue, Akihiro Hoshino, Kenichi Kashimada, Hirokazu Kanegane, Tomohiro Morio. Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome. Pediatr Diabetes. 2019.11; 20(7); 1035-1040
  48. Hosokawa Y, Higuchi S, Kawakita R, Hata I, Urakami T, Isojima T, Takasawa K, Matsubara Y, Mizuno H, Maruo Y, Matsui K, Aizu K, Jinno K, Araki S, Fujisawa Y, Osugi K, Tono C, Takeshima Y, Yorifuji T. Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young. Journal of Diabetes Investigation. 2019.11; 10(6); 1586-1589
  49. 野村知弘, 石井卓, 山口洋平, 櫻井牧人, 前田佳真, 西口康介, 古谷智子, 近藤雅楽子, 大郷恵子, 土井庄三郎. 低出生体重、先天性心疾患と肺高血圧を有した Down 症候群の 1 部検例 月刊「心臓」. 2019.11; 51(11); 1167-1173
  50. Tomohiro Morio, Gautam Baheti, Michael A Tortorici, Jutta Hofmann, Mikhail A Rojavin. Pharmacokinetic properties of Privigen® in Japanese patients with primary immunodeficiency. Immunol Med. 2019.12; 42(4); 162-168
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