• 研究・業績紹介
  • 脳神経小児科の研究・業績を紹介いたします。

令和2年度業績

    ＜著書＞

  • 第１０章　神経疾患　19その他の重要な小児領域の疾患 ５その他. 小児の急性脳症.　急性小脳失調症.　急性小児片麻痺. 前垣義弘. 新臨床内科学　第10版　矢崎義雄　監修. 医学書院. PP1527-1529. 2020
  • 23小児疾患　小児の急性脳症.　前垣義弘. 今日の診断指針　第8版　永井良三　総編集. 医学書院. Pp1864-8. 2020
  • 6.先天代謝異常　Niemann-Pick病．今日の小児治療指針　第17版.　成田綾.　医学書院 PP200, 2020
  • ママ＆パパにつたえたい　こどもの病気ホームケアガイド：第5版.　日本外来小児科学会　編著. 牟田広実,　児玉和彦,　木村学,　井上佳也,　一ノ瀬英史,　上荷裕広,　江田明日香,　金弘子,　小橋孝介,　小柳富彦,　佐藤潤一郎,　斎藤祥子,　島田翔,　田中祥一郎,　武石大輔,　張慶哲,　鉄原健一,　中村裕子,　古野憲司,　古家信介,　茂木恒俊,　柳忠宏,　吉田伸.　医歯薬出版株式会社. 2020

    ＜総説＞

  • The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan. Tanaka M, Natsume J, Hamano SI, Iyoda K, Kanemura H, Kubota M, Mimaki M, Niijima SI, Tanabe T, Yoshinaga H, Kojimahara N, Komaki H, Sugai K, Fukuda T, Maegaki Y, Sugie H. Brain Dev. 42(1):28-34. 2020
  • 【小児神経学-現在から未来へ】各論　最新の治療　けいれん重積型(二相性)急性脳症の診断と初期対応. 前垣義弘. 小児内科 52巻3号;409-412. 2020
  • 【診断・治療可能な遺伝性疾患を見逃さないために】先天代謝異常症　Gaucher病．成田綾．小児科臨床,　73巻5号: 701∼704. 2020.
  • 【これではアカンで!こどもの診療-ハマりがちな11のピットフォール】ピットフォール　脱!「様子をみましょう」こどもの「健診」、基本のキ．中村 裕子．　総合診療,30(3)；315-319.　2020
  • 遺伝子関連検査を知る ACMGガイドライン. 岡崎哲也, 難波栄二. 遺伝子医学. 10(3): 101-105. 2020.

    ＜原著論文＞

  • Insufficient efficacy of corpus callosotomy for epileptic spasms with biphasic muscular contractions. Kanai S, Okanishi T, Nishimura M, Oguri M, Enoki H, Maegaki Y, Fujimoto A. Front Neurol. 2020 Apr 2;11:232. doi: 10.3389/fneur.2020.00232. eCollection 2020.
  • Phase Lag Analyses on Ictal Scalp Electroencephalography May Predict Outcomes of Corpus Callosotomy for Epileptic Spasms. Oguri M, Okanishi T, Kanai S, Baba S, Nishimura M, Ogo K, Himoto T, Okanari K, Maegaki Y, Enoki H, Fujimoto A. Front Neurol. 2020 Dec 15;11:576087. doi: 10.3389/fneur.2020.576087. eCollection 2020.
  • Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. Yoshida M, Nakashima M, Okanishi T, Kanai S, Fujimoto A, Itomi K, Morimoto M, Saitsu H, Kato M, Matsumoto N, Chiyonobu T. Clin Genet 93(2):368-73. 2020
  • Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study. Yamada H, Ohno K, Shiota M, Togawa M, Utsunomiya Y, Akaboshi S, Tsuchie H, Okada T, Oguri M, Higami S, Noma H, Maegaki Y. Brain Dev. 42(10):747-755. 2020
  • Clinical and genetic characteristics of patients with Doose syndrome. Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M. Epilepsia Open. 23;5(3):442-450. 2020
  • Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014-2017. Kasai M, Shibata A, Hoshino A, Maegaki Y, Yamanouchi H, Takanashi JI, Yamagata T, Sakuma H, Okumura A, Nagase H, Ishii A, Goto T, Oka A, Mizuguchi M. Brain Dev. 42(7):508-514. 2020
  • Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy. Komaki H, Maegaki Y, Matsumura T, Shiraishi K, Awano H, Nakamura A, Kinoshita S, Ogata K, Ishigaki K, Saitoh S, Funato M, Kuru S, Nakayama T, Iwata Y, Yajima H, Takeda S.Ann Clin Transl Neurol. 2020 Feb;7(2):181-190. doi: 10.1002/acn3.50978. Epub 2020 Jan 20.
  • Atypical gamma functional connectivity pattern during light sleep in children with attention deficit hyperactivity disorder. Ueda R, Takeichi H, Kaga Y, Oguri M, Saito Y, Nakagawa E, Maegaki Y, Inagaki M. Brain Dev. 42(2):129-139. 2020
  • High-frequency component in flash visual evoked potentials in type 3 Gaucher disease. Oguri M, Saito Y, Okanishi T, Matuura Y, Akiyama S, Ikeguchi T, Narita A, Hirooka Y, Maegaki Y. Brain Dev. 42(1):19-27. 2020
  • Developmental changes in attention to social information from childhood to adolescence in autism spectrum disorders: a comparative study. Fujioka T, Tsuchiya KJ, Saito M, Hirano Y, Matsuo M, Kikuchi M, Maegaki Y, Choi D, Kato S, Yoshida T, Yoshimura Y, Ooba S, Mizuno Y, Takiguchi S, Matsuzaki H, Tomoda A, Shudo K, Ninomiya M, Katayama T, Kosaka H. Mol Autism. 2020 Apr 9;11(1):24. doi: 10.1186/s13229-020-00321-w.
  • The definition of neuronopathic Gaucher disease. Schiffmann R, Sevigny J, Rolfs A, Davies EH, Goker-Alpan O, Abdelwahab M, Vellodi A, Mengel E, Lukina E, Yoo H-W, Collin-Histed T, Narita A, Dinur T, Revel-Vilk S, Arkadir D, Szer J, Wajnrajch M, Ramaswami U, Sidransky E, Donald A, Zimran A. J Inherit Metab Dis. 43(5):1056-1059. 2020
  • Development of a diagnostic screening strategy for Niemann-Pick diseases based on simultaneous liquid chromatography-tandem mass spectrometry analyses of N-Palmitoyl-O-phosphocholine-serine and sphingosylphosphorylcholine. Iwahori A, Maekawa M, Narita A, Kato A, Sato T, Ogura J, Sato Y, Kikuchi M, Noguchi A, Higaki K, Okuyama T, Takahashi T, Eto Y, Mano N. Biol Pharm Bull. 1;43(9):1398-1406. 2020
  • Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu L-H, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano S, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Human mutation 42(1) 50-65. 2020
  • 鳥取県における発達障がい児童の二次障がいと関連要因に関する研究. 前垣義弘, 板倉文子. 疾病構造の地域特性対策専門委員会報告 34巻 Page1-5, 2020

    ＜症例報告＞

  • Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome. Yamada H, Tamasaki A, Oguri M, Hori I, Saitoh S, Maegaki Y. Epileptic Disord. 2020 Oct 1;22(5):673-677. doi: 10.1684/epd.2020.1212.
  • Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis. Tani　N, Yamada　N, Okazaki T, Horie T, Nakano H, Sawamura D, Yamamoto O. Acta dermato-venereologica. 100(17): adv00285. 2020.
  • Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants. Okazaki T, Matsuura K, Kasagi N, Adachi K, Kai M, Okubo M, Nishino I, Nanba E, Maegaki Y. Human genome variation. 7. 2020
  • ASLが診断に有用であった片麻痺性片頭痛の1例. 津田正喜, 加藤亜結美, 渡辺圭介, 前垣義弘, 藤井進也. 臨床放射線65巻10号;1143-1148. 2020
  • 小児欠神てんかん寛解後に不思議の国のアリス症候群を発症しgiant VEPを認めた一例. 秋山翔太, 大栗聖由, 山田博之, 斎藤義朗, 池口拓哉, 佐藤研吾, 廣岡保明, 小河佳織, 樋本尚志, 前垣義弘. 臨床神経生理学48巻3号;121-126. 2020

    ＜講演・シンポジウム（全国学会）＞

  • Epilepsy surgery for Children with Medically Intractable Epilepsy. Tohru Okanishi, Symposium 11: Epilepsy, Sunshine 2021, April 11, 2021, Surakarta, Indonesia
  • 教育講演7　脳や所見の取り方. 前垣義弘. 第62回小児神経学会学術集会　新潟　2020.8
  • 小児てんかんのエッセンス. 岡西 徹. 実践教育セミナー1. 初めて小児神経学を学ぶ人のための実践教育セミナー. 第62回日本小児神経学術集会. 2020.8.17.　
  • MRI, 脳磁図, 核医学検査を用いたてんかん焦点の検索. シンポジウム5. 小児期のてんかん外科施行令の実際. 小児神経科医が貢献できること. 岡西 徹.　第62回日本小児神経学術集会. 2020.8.18
  • てんかん性スパズムに対する脳梁離断術の予後因子となる術前頭皮脳波の特徴：左右対称性と位相差について. 岡西 徹. 大栗聖由. 金井創太郎. 藤本礼尚. 関連学会合同シンポジウム7. 小児脳波・脳磁図研究の最前線. 第57回日本臨床神経生理学会学術大会. 2020.11.27.

    ＜学会発表（国際）＞

  • Longitudinal clinical features of three children with COL4A1 mutation. Yuko Nakamura, Hiroyuki Yamada, Tetsuya Okazaki, Tohru Okanishi, Yoshihiro Maegaki. 16th International Child Neurology Congress 2020.
  • Enhancing interhemispheric functional connectivity about slow oscillations in patients with acute encephalopathy with biphasic seizures and late reduced diffusion in acute phase. Oguri M, Nishiyama M, Iwai Y, Maegaki Y. 16th International Child Neurology Congress 2020.
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