• 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。

令和元年度業績

    ＜著書＞

  • 感染症に関連した小児の急性脳症. 前垣義弘. 今日の治療指針2019.　PP1480-1.　医学書院. 2019
  • ゴーシェ病診療ガイドライン2019　監修：厚生労働省難治性疾患等政策研究事業　ライソゾーム病（ファブリー病含む）に関する調査研究、編集：ゴーシェ病診療ガイライン作成委員会. 成田　綾. 診断と治療社. 2019

    ＜総説＞

  • 子どものけいれんの初期対応. 前垣義弘. 香川県小児科医会会誌 40：48-52. 2019
  • 人材養成に対する鳥取大学の取り組み. 前垣義弘, 玉崎章子. 小児保健研究 78: 14-18. 2019
  • Alpers症候群 (Alpers-Huttenlocker症候群). 斎藤義朗. 小児科診療82: 503-508, 2019
  • 頭痛.　斎藤義朗. 小児内科増刊号 小児の救急・搬送医療. 51:351-353. 2019
  • ライソゾーム病の診断 ライソゾーム病の診療ガイドライン. ゴーシェ病. 成田　綾. 日本臨床　特集 ライソゾーム病　-最新情報と将来展望-　77（8）:1306-1312. 2019
  • 【子どもの病気のホームケア】けいれん・意識がおかしい(解説/特集). 山田博之, 前垣義弘. チャイルド ヘルス 22: 16-20. 2019
  • 脆弱X症候群[指定難病206. 岡崎哲也, 難波栄二. 日本医師会雑誌 148: 309-310, 2019
  • 脆弱X症候群関連疾患[指定難病205. 岡崎哲也, 難波栄二. 日本医師会雑誌. 148:316. 2019
  • 【VIII てんかん】　薬物療法．金井創太郎、前垣義弘．精神科, 35 [Suppl.1]: 310-315. 2019.

    ＜原著論文＞

  • Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy. Itoh M, Dai H, Horike SI, Gonzalez J, Kitami Y, Meguro-Horike M, Kuki I, Shimakawa S, Yoshinaga H, Ota Y, Okazaki T, Maegaki Y, Nabatame S, Okazaki S, Kawawaki H, Ueno N, Goto YI, Kato Y. Brain. 142(3): 560-573. 2019
  • Long-term prognosis of epilepsy in patients with cerebral palsy. Tsubouchi Y, Tanabe A, Saito Y, Noma H, Maegaki Y. Dev Med Child Neurol. 61(9):1067-1073. 2019
  • Computed diffusion-weighted imaging for acute pediatric encephalitis/encephalopathy. Kamata Y, Shinohara Y, Kuya K, Tsubouchi Y, Saito Y, Maegaki Y, Fujii S, Ogawa T. Acta Radiol. 60(10):1341-1347. 2019
  • Developing a mouse model of acute encephalopathy using low-dose lipopolysaccharide injection and hyperthermia treatment. Kurata H, Saito K, Kawashima F, Ikenari T, Oguri M, Saito Y, Maegaki Y, Mori T. Exp Biol Med (Maywood). 244(9): 743-751. 2019
  • A Study on the Incidence and Comorbidities of Autism Spectrum Disorders Accompanied by Intellectual Disabilities in Yonago City, Japan. Nomura K, Yamaguchi M, Yokoyama M, Shiota M, Ohno K, Maegaki Y. Yonago Acta Med. 28;62(1): 8-13. 2019
  • Symmetry of ictal slow waves may predict the outcomes of corpus callosotomy for epileptic spasms. Kanai S, Oguri M, Okanishi T, Itamura S, Baba S, Nishimura M, Homma Y, Maegaki Y, Enoki H, Fujimoto A. Sci Rep. 24;9(1): 19733. doi: 10.1038/s41598-019-56303-3. 2019
  • Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Early Diagnosis Consensus (GED-C) Delphi initiative. Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato, F, Di Rocco M, Goker-Alpan O, Hughes D. A, Lukina E. A, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Perez-Lopez J, Ramaswami U, Schwartz I. V, Szer J, Weinreb N. J, and Zimran A. Intern Med J. 49(5): 578-59. 2019
  • Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann–Pick disease type C. Maekawa M, Narita A, Jinnoh I, Iida T, Marquardt T, Mengel E, Eto Y, Clayton P. T, Yamaguchi H and Mano N. Clinica Chimica Acta 494: 58-63. 2019
  • Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C. Maekawa M, Jinnoh I, Matsumoto Y, Narita A, Mashima R, Takahashi H, Iwahori A, Saigusa D, Fujii K, Abe A, Higaki K, Yamauchi S, Ozeki Y, Shimoda K, Tomioka Y, Okuyama T, Eto Y, Ohno K, Clayton P. T, Yamaguchi H and Mano N.. Int J Mol Sci. 10;20(20):5018. doi: 10.3390/ijms20205018. 2019
  • Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C. Maekawa M, Jinnoh I, Narita A, Iida T, Saigusa D, Iwahori A, Nittono H, Okuyama T, Eto Y, Ohno K, Clayton P. T, Yamaguchi H and Mano N. J Lipid Res. 60(12):2074-2081. doi: 10.1194/jlr.M093971. Epub 2019 Oct 4. 2019
  • Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders. Ebiki M, Okazaki T, Kai M, Adachi K, Nanba E. Yonago Acta Med. 62:244-252. 2019
  • Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y et al. J Med Genet. 56:396-407. 2019
  • Dyscalculiaのスクリーニングにおける数的基礎力検査の検討. 大羽沢子, 小枝達也, 前垣義弘. 小児の精神と神経 59: 199-206. 2019

    ＜症例報告＞

  • Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation. Okazaki T, SaitoY, Sugita K, Nosaka K, Ohno K, Hiraoka Y, Kasagi N, Ebiki M, Narai S, Kawashima Y, Takano S, Kai M, Adachi K, Yamamoto O, Nanba E, Maegaki Y. Yonago Acta Med. 62(1): 159-162. 2019
  • Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease. Charkhand B, Scantlebury MH, Narita A, Zimran A, and Al-Hertani W. Mol Genet Metab Rep. 20:100476. doi: 10.1016/j.ymgmr.2019.100476. eCollection 2019
  • A new heterozygous compound mutation in the CTSA gene in galactosialidosis. Nakajima H, Ueno M, Adachi K, Nanba E, Narita A, Tsukimoto J, Itoh K, and Kawakami A. Hum Genome Var. 2019 Apr 26;6:22. doi: 10.1038/s41439-019-0054-x. eCollection 2019.
  • A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. Kumagai T, Terashima H, Uchida H, Fukuda A, Kasahara M, Kosuga M, Okuyama T, Tsunoda T, Inui A, Fujisawa T, Narita A, Eto Y and Kubota M. Brain Dev 41(5): 460-464. 2019
  • Three Japanese patients with 3p13 microdeletions involving FOXP1. Yamamoto-Shimojima K, Okamoto N, Matsumura W, Okazaki T, Yamamoto T. Brain Dev. 41:257-262. 2019
  • Atypical symptoms in migraine-related Alice in wonderland syndrome: expansion of the phenotype and reflection on the pathomechanism. Matsuura K, Ishikura R, Oguri M, Saito Y. Yonago Acta Medica 62:163-5. 2019
  • 両側性の筋萎縮を呈した早期発症の平山病(若年性一側上肢筋萎縮症)の女児例. 渡辺圭介, 大栗聖由, 西村洋子, 前垣義弘. 鳥取医学雑誌 47: 27-30. 2019

    ＜学会発表（国際）＞

  • Developing mice model of acute encephalopathy using low-dose lipopolysaccharide injection and hyperthermia treatment: a simple and convenient method. Hirofumi Kurata, Kengo Saito, Fumiaki Kawashima, Takuya Ikenari, Masayoshi Oguri, Yoshiaki Saito, Yoshihiro Maegaki, Tetsuji Mori. The 20th Annual Meeting of Infantile Seizure Society. International Symposium on Neonatal Seizures: Deepening Insights into Developmental Brain Injury. Nagoya 2019.5
  • Early differentiation of acute encephalopathy with biphasic seizures and late reduced diffusion from febrile status epilepticus using EEG analysis. Shota Akiyama, Oguri Masayoshi, Nasashi Nishiyama, Yuka Matsuura, Yoshiaki Saito, Yohio Iwai, Yasuaki Hiroola, Yoshihiro Maegaki. The 20th Annual Meeting of Infantile Seizure Society. International Symposium on Neonatal Seizures: Deepening Insights into Developmental Brain Injury. Nagoya 2019.5
  • Utility of arterial spin labeling sequence for early diagnosis of acute　encephalopathy with biphasic seizures and late reduced diffusion. Hirokazu Tsuchie, Yasushi Utsunomiya, Yuuki Ichisaka, Katsuki Hirai, Tatsuharu Sato, Hiroyuki Yamada, Yoshihiro Maegaki. 15th Asian Oceanian Congress of Child Neurology. Kuala Lumpur. 2019.9
  • A case of venous sinus thrombosis with subdural brain abscess secondary to acute sinusitis. Toshiaki Tanaka, Masahiko Tanabe, Yoko Nishimura, Yoshihiro Maegaki, Hiroki Yoshioka, Yousuke Nakamura, Shigeki Nakamoto. 15th Asian Oceanian Congress of Child Neurology. Kuala Lumpur. 2019.9
  • High-frequency oscillation in flash visual evoked potentials in type 3 Gaucher disease. Masayoshi Oguri, Yoshiaki Saito, Shota Akiyama, Takuya Ikeguchi, Aya Narita, Yasuaki Hirooka, Yoshihiro Maegaki. 15th Asian Oceanian Congress of Child Neurology. Kuala Lumpur. 2019.9
  • Aggravated convulsions due to high-grade atrioventricular block following carbamazepine administration: a case report. Go Yoshino,Tomotsune Dohmoto, Akiko Tamura, Yasushi Utsunomiya, Yoshihiro Maegaki. 15th Asian Oceanian Congress of Child Neurology. Kuala Lumpur. 2019.9
  • A case of Pitt–Hopkins syndrome complicated by intractable epilepsy and breathing abnormalities . Hiroyuki Yamada, Akiko Tamasaki, Yoko Nishimura, Yoshiaki Saito, Yoshihiro Maegaki. 15th Asian Oceanian Congress of Child Neurology. Kuala Lumpur. 2019.9

    ＜特別講演・シンポジウム＞

  • 特別講演　診断推論　- 診断する努力を継続すること –　前垣義弘. 第65回日本小児神経学会近畿地方会. 和歌山2019.3
  • 鳥取県の脳性麻痺の発生率　前垣義弘、山田博之. 第61回日本小児神経学会学術集会　シンポジウム9　脳性麻痺児の実態把握に関する調査名古屋2019.5
  • 急性脳炎・脳症の勘どころ－初期対応と診断と初期治療後のフォローアップについて. 前垣義弘. 第４回小児神経学サテライトセミナー ～小児神経入門コース～ 高知2019.6.
  • ニーマン・ピック病C型の診断と治療. 成田　綾. 第61回　日本小児神経学会学術集会　薬事小委員会主催セミナー2　小児神経領域における新規薬剤の効能と注意点　Update. 名古屋2019年6月2日、
  • ～ライソゾーム病の診療を通して学んでいること～ 成田　綾. 第61回　日本先天代謝異常学会総会　シンポジウム2　先天代謝異常症患児の医療的ケア　神経変性代謝疾患と在宅医療、秋田2019年10月26日
  • てんかん性スパズムの発作時脳波解析による脳梁離断術の予後予測．金井創太郎. 第49回日本臨床神経生理学会学術大会　シンポジウム8　てんかんと脳梁離断、2019. 福島2019年11月28日
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