• 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。

平成30年度業績

    ＜総説＞

  • 【小児の治療指針】神経・筋　脳性麻痺、重症心身障害(解説/特集). 斎藤義朗. 小児科診療81巻増: 869-871. 2018
  • 【私の処方2018】神経・筋疾患の処方　小児の頭痛(解説/特集). 斎藤義朗. 小児科臨床 71巻: 826-831. 2018
  • 【小児疾患の診断治療基準】(第2部)疾患　先天代謝異常症　Niemann-Pick病C型(解説/特集). 成田 綾. 小児内科50巻増刊: 184-185. 2018.
  • 【小児医療における診断・治療の進歩2018】治療技術　Niemann-Pick病C型(NP-C)に対するミグルスタットを用いた基質合成抑制療法(解説/特集). 成田 綾. 小児科59巻: 1793-1800. .2018

    ＜原書＞

  • Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis. Kurata H, Shirai K, Saito Y, Okazaki T, Ohno K, Oguri M, Adachi K, Nanba E, Maegaki Y. Brain Dev 40:36-41. 2018
  • Use of high b value diffusion-weighted magnetic resonance imaging in acute encephalopathy/encephalitis during childhood. Tsubouchi Y, Itamura S, Saito Y, Yamashita E, Shinohara Y, Okazaki T, Ohno K, Nishimura Y, Oguri M, Maegaki Y. Brain Dev. 40:116-125. 2018
  • Identification of sleep hypoventilation in young individuals with Becker muscular dystrophy: A pilot study. Nakamura Y, Saito Y, Kubota N, Matsumura W, Hosoda C, Tamasaki-Kondo A, Nishimura Y, Sunada Y, Fukada M, Ohno T, Maegaki Y, Matsuo M, Tokita Brain Dev. 40:537-543. 2018
  • Decreased Wave V Amplitude in Auditory Brainstem Responses of Children with Cerebellar Lesions. Matsuura Y, Oguri M, Saito Y, Aoe Y, Ogawa A, Akiyama S, Yasuda N, Sato K, Maegaki Y, Hirooka Y. Yonago Acta Med. 61:220-227. 2018
  • Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals. Mashima R, Maekawa M, Narita A, Okuyama T, Mano N. Mol Genet Metab Rep.15:90-95. 2018
  • 薬剤抵抗性の小児慢性片頭痛におけるtopiramate予防内服. 林田拓也、斎藤義朗、前垣義弘. 脳と発達50:269-75. 2018

    ＜症例報告＞

  • CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report. Hayashida T, Saito Y, Ishii A, Yamada H, Itakura A, Minato T, Fukuyama T, Maegaki Y, Hirose. Brain Dev. 40:130-133. 2018
  • Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report. Hayashida T, Saito Y, Ishii A, Hirose S, Hiraiwa R, Maegaki Y, Ohno K. Brain Dev. 40:576-581. 2018
  • Cytokine/chemokine elevation during the transition phase from HSV encephalitis to autoimmune anti-NMDA receptor encephalitis. Omae T, Saito Y, Tsuchie H, Ohno K, Maegaki Y, Sakuma H. Brain Dev.40:361-365. 2018
  • Cerebellar Ganglioglioma in Childhood: Histopathologic Implications for Management During Long-term Survival: A Case Report. Ohno K, Saito Y, Tamasaki-Kondo A, Kambe A, Horie Y, Kato S, Maegaki Y. Yonago Acta Med. 60:255-259. 2018
  • Pediatric Case of Li-Fraumeni Syndrome Complicated with Supratentorial Anaplastic Ependymoma. Hosoya T, Kambe A, Nishimura Y, Sakamoto M, Maegaki Y, Kurosaki M.Hosoya T, et al. Among authors: Maegaki Y. World Neurosurg. 120:125-128. 2018
  • Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations. Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y. Clin Genet. 94:391-392. 2018
  • Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report. Kawazoe T, Yamamoto T, Narita A, Ohno K, Adachi K, Nanba E, Noguchi A, Takahashi T, Maekawa M, Eto Y, Ogawa M, Murata M, Takahashi Y. BMC Neurol. 18:117. 2018
  • Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene. Ozono T, Kinoshita M, Narita A, Hirakiyama A, Kosuga M, Okuyama T, Fukada K. J Neurol Sci. 388:4-6. 2018
  • 横隔膜超音波検査によるUllrich型先天性筋ジストロフィーの呼吸筋評価. 大栗聖由, 斎藤義朗, 青江康貴, 小川絢女, 佐藤研吾, 大前登典, 西野一三, 廣岡保明, 前垣義弘. 臨床神経学46:147-52. 2018

    ＜講演・シンポジウム（全国学会）＞

  • 小児在宅医療　鳥取大学の取り組み　前垣義弘.　第65回日本小児保健協会学術集会　2018年6月16日　米子
  • 熱性けいれん・けいれん重積・急性脳症 診療ガイドラインの概説. 前垣義弘.　第48回小児神経学セミナー　2018年11月23日　大阪
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