2025/04/02 更新

写真a

アキヤマ マリ
秋山 麻里
AKIYAMA Mari
所属
学術研究院医療開発領域 助教
職名
助教
外部リンク

学位

  • 医学博士 ( 岡山大学大学院 )

研究分野

  • ライフサイエンス / 神経内科学

所属学協会

  • 日本人類遺伝学会

    2021年8月 - 現在

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  • 日本てんかん学会

    2006年4月 - 現在

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  • 日本小児神経学会

    2006年4月 - 現在

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  • 日本小児科学会

    2000年5月 - 現在

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論文

  • A retrospective study on post-operative recovery of daily living activity after total corpus callosotomy. 査読 国際誌

    Hiroki Tsuchiya, Takashi Shibata, Tatsuya Sasaki, Mari Akiyama, Tomoyuki Akiyama, Katsuhiro Kobayashi

    Brain & development   2024年9月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    INTRODUCTION: Post-operative complications of corpus callosotomy (CC) in children, prolonged hospitalization due to inactivity as acute disconnection syndrome is occasionally experienced. We aimed to clarify this issue and its risk factors with a hypothesis that electroencephalogram (EEG) findings as measures of functional lateralization may be among prognostic factors for post-operative recovery. MATERIALS AND METHODS: Twenty-three patients with childhood-onset drug-resistant epilepsy who underwent total CC between April 2017 and December 2023 were included in the study and they were divided into two groups based on the duration of post-operative hospitalization as an indicator of recovery of daily living activity. We compared scalp EEG findings and the other factors including clinical characteristics between the two groups. RESULTS: Of 22 patients (14 males) without specific complications, post-operative hospitalization clustered in 9-14 days in 15 patients (Group A) with range 16-118 days in seven patients (Group B). The ratios of patients with non-lateralized spikes on pre-operative EEG and that of patients with symmetric background activity on post-operative EEG were significantly greater in Group B (7/7, 100 %; 6/7, 86 %, respectively) than in Group A (8/15, 53 %; 4/15, 27 %, respectively) (p = 0.038; p = 0.020, respectively, by Fisher's exact test), while other factors were not significantly different between the two groups. CONCLUSIONS: Delayed recovery of living activity should be anticipated, especially in patients with non-lateralized epileptic discharges on pre-operative EEG.

    DOI: 10.1016/j.braindev.2024.09.006

    PubMed

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  • 全前脳胞症を合併した13番染色体長腕部分トリソミーの一例

    大野 友香子, 吉本 順子, 秋山 麻里, 鷲尾 洋介, 岡村 朋香, 渡邉 宏和, 森本 大作, 佐藤 剛史, 塚原 宏一, 小林 勝弘

    日本周産期・新生児医学会雑誌   60 ( 2 )   287 - 291   2024年9月

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    記述言語:日本語   出版者・発行元:(一社)日本周産期・新生児医学会  

    13番染色体長腕部分トリソミー(以下,13q部分トリソミー)に全前脳胞症(holoprosencephaly:HPE)が合併した1例を経験した.小頭,眼間狭小,鼻中隔欠損,右唇顎口蓋裂など顔面正中部の低形成を認め,頭部単純MRI検査でlobar型のHPEと診断した.生後3ヵ月でWest症候群を発症し,急性呼吸不全のため4歳2ヵ月で死亡した.染色体核型は46,XX,rec(13)dup(13q)inv(13)(p12q14.1)matで,母の腕間逆位に由来していた.13q部分トリソミーの表現型は,13トリソミーに比べ軽症例が多く,生命予後も良好と考えられてきた.本症例は,これまでの報告例には共通しない表現型としてHPEを合併したために重篤な経過を示した.13q部分トリソミーの表現型と重複部位の関連を明らかにするためには,さらなる症例の集積が必要と考えられる.(著者抄録)

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    その他リンク: https://search.jamas.or.jp/default/link?pub_year=2024&ichushi_jid=J04116&link_issn=&doc_id=20240913470018&doc_link_id=10.34456%2Fjjspnm.60.2_287&url=https%3A%2F%2Fdoi.org%2F10.34456%2Fjjspnm.60.2_287&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

  • Modulation index predicts the effect of ethosuximide on developmental and epileptic encephalopathy with spike-and-wave activation in sleep. 査読 国際誌

    Takashi Shibata, Hiroki Tsuchiya, Mari Akiyama, Tomoyuki Akiyama, Katsuhiro Kobayashi

    Epilepsy research   202   107359 - 107359   2024年5月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    PURPOSE: In developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS), the thalamocortical network is suggested to play an important role in the pathophysiology of the progression from focal epilepsy to DEE-SWAS. Ethosuximide (ESM) exerts effects by blocking T-type calcium channels in thalamic neurons. With the thalamocortical network in mind, we studied the prediction of ESM effectiveness in DEE-SWAS treatment using phase-amplitude coupling (PAC) analysis. METHODS: We retrospectively enrolled children with DEE-SWAS who had an electroencephalogram (EEG) recorded between January 2009 and September 2022 and were prescribed ESM at Okayama University Hospital. Only patients whose EEG showed continuous spike-and-wave during sleep were included. We extracted 5-min non-rapid eye movement sleep stage N2 segments from EEG recorded before starting ESM. We calculated the modulation index (MI) as the measure of PAC in pair combination comprising one of two fast oscillation types (gamma, 40-80 Hz; ripples, 80-150 Hz) and one of five slow-wave bands (delta, 0.5-1, 1-2, 2-3, and 3-4 Hz; theta, 4-8 Hz), and compared it between ESM responders and non-responders. RESULTS: We identified 20 children with a diagnosis of DEE-SWAS who took ESM. Fifteen were ESM responders. Regarding gamma oscillations, significant differences were seen only in MI with 0.5-1 Hz slow waves in the frontal pole and occipital regions. Regarding ripples, ESM responders had significantly higher MI in coupling with all slow waves in the frontal pole region, 0.5-1, 3-4, and 4-8 Hz slow waves in the frontal region, 3-4 Hz slow waves in the parietal region, 0.5-1, 2-3, 3-4, and 4-8 Hz slow waves in the occipital region, and 3-4 Hz slow waves in the anterior-temporal region. SIGNIFICANCE: High MI in a wider area of the brain may represent the epileptic network mediated by the thalamus in DEE-SWAS and may be a predictor of ESM effectiveness.

    DOI: 10.1016/j.eplepsyres.2024.107359

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  • Exploration of urine metabolic biomarkers for new-onset, untreated pediatric epilepsy: A gas and liquid chromatography mass spectrometry-based metabolomics study. 査読 国際誌

    Tomoyuki Akiyama, Daisuke Saigusa, Takushi Inoue, Chiho Tokorodani, Mari Akiyama, Rie Michiue, Atsushi Mori, Eiji Hishinuma, Naomi Matsukawa, Takashi Shibata, Hiroki Tsuchiya, Katsuhiro Kobayashi

    Brain & development   2024年1月

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    記述言語:英語   掲載種別:研究論文(学術雑誌)  

    OBJECTIVE: The discovery of objective indicators for recent epileptic seizures will help confirm the diagnosis of epilepsy and evaluate therapeutic effects. Past studies had shortcomings such as the inclusion of patients under treatment and those with various etiologies that could confound the analysis results significantly. We aimed to minimize such confounding effects and to explore the small molecule biomarkers associated with the recent occurrence of epileptic seizures using urine metabolomics. METHODS: This is a multicenter prospective study. Subjects included pediatric patients aged 2 to 12 years old with new-onset, untreated epilepsy, who had had the last seizure within 1 month before urine collection. Controls included healthy children aged 2 to 12 years old. Those with underlying or chronic diseases, acute illnesses, or recent administration of medications or supplements were excluded. Targeted metabolome analysis of spot urine samples was conducted using gas chromatography (GC)- and liquid chromatography (LC)-tandem mass spectrometry (MS/MS). RESULTS: We enrolled 17 patients and 21 controls. Among 172 metabolites measured by GC/MS/MS and 41 metabolites measured by LC/MS/MS, only taurine was consistently reduced in the epilepsy group. This finding was subsequently confirmed by the absolute quantification of amino acids. No other metabolites were consistently altered between the two groups. CONCLUSIONS: Urine metabolome analysis, which covers a larger number of metabolites than conventional biochemistry analyses, found no consistently altered small molecule metabolites except for reduced taurine in epilepsy patients compared to healthy controls. Further studies with larger samples, subjects with different ages, expanded target metabolites, and the investigation of plasma samples are required.

    DOI: 10.1016/j.braindev.2023.12.004

    PubMed

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  • A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation. 査読 国際誌

    Mari Akiyama, Tomoyuki Akiyama, Hirotomo Saitsu, Yukie Tokioka, Rie Tsukahara, Hiroki Tsuchiya, Takashi Shibata, Katsuhiro Kobayashi

    Brain & development   45 ( 10 )   597 - 602   2023年8月

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    担当区分:筆頭著者   記述言語:英語  

    BACKGROUND: MECP2 is a well-known causative gene for Rett syndrome but other phenotypes have also been reported. Here, we report a case of a female patient with adolescent-onset progressive myoclonus epilepsy (PME) carrying a novel truncating mutation in the MECP2 gene. CASE REPORT: The patient was a 29-year-old woman with infantile-onset intellectual disability of unspecified cause. She had demonstrated slow but steady development with moderate intellectual disability until the age of 16, when she started having epileptic seizures. Her epilepsy progressed intractably with multiple seizure types accompanied by myoclonus, tremor, and gradual regression. She is currently apathetic and requires extensive assistance in all aspects of life. After an extensive work-up for underlying diseases for PME turned out negative, whole-exome sequencing revealed a de novo 113-bp deletion and 3-bp insertion in MECP2, a variant of NM_004992.4:c.1099_1211delinsGGG, p.(His367Glyfs*32). CONCLUSIONS: The clinical presentation of this case was inconsistent with Rett syndrome, and the rapid regression in the patient's twenties was considered characteristic. Mutations of MECP2 may result in variable neurodevelopmental phenotypes and may also be considered a causative gene for adolescent-onset PME.

    DOI: 10.1016/j.braindev.2023.07.006

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書籍等出版物

  • 新版 どう読む?こう読む! てんかんの発作間欠期・発作時脳波

    ( 担当: 分担執筆 ,  範囲: 97-101)

    株式会社 診断と治療社  2024年9月  ( ISBN:9784787826480

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  • 研究年報 第33集2022

    公益財団法人てんかん治療研究振興財団( 担当: 分担執筆 ,  範囲: 41-48)

    公益財団法人てんかん治療研究振興財団  2022年9月  ( ISBN:9784902673333

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  • フローチャートでわかる小児てんかん診療ガイド

    小林, 勝弘, 大塚, 頌子( 担当: 分担執筆 ,  範囲: 44-46, 78-79)

    診断と治療社  2022年6月  ( ISBN:9784787825216

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    総ページ数:xiv, 293p   記述言語:日本語

    CiNii Books

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MISC

  • 脳腫瘍摘出術後に発作の完全抑制を得られた乳児てんかん性スパズム症候群の男児例

    塚原 理恵, 土屋 弘樹, 秋山 麻里, 佐々木 達也, 秋山 倫之, 小林 勝弘

    てんかん研究   42 ( 1 )   77 - 77   2024年6月

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    記述言語:日本語   出版者・発行元:(一社)日本てんかん学会  

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  • 広範な脳形成異常に伴う新生児期発症難治てんかんに対して緩和的半球離断術を施行した1乳児例

    兵頭 勇紀, 松田 奈央子, 金 聖泰, 秋山 麻里, 佐々木 達也, 秋山 倫之, 小林 勝弘

    てんかん研究   42 ( 1 )   58 - 58   2024年6月

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    記述言語:日本語   出版者・発行元:(一社)日本てんかん学会  

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  • 8歳MRI陰性側頭葉てんかんの一手術例

    佐々木 達也, 井本 良二, 松田 奈央子, 柴田 敬, 秋山 麻里, 亀田 雅博, 安原 隆雄, 秋山 倫之, 小林 勝弘, 伊達 勲

    てんかん研究   42 ( 1 )   58 - 59   2024年6月

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    記述言語:日本語   出版者・発行元:(一社)日本てんかん学会  

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  • 尿中メタボローム解析を用いた未治療てんかんのバイオマーカー探索

    秋山 倫之, 三枝 大輔, 秋山 麻里, 柴田 敬, 土屋 弘樹, 道上 理絵, 小林 勝弘

    脳と発達   56 ( 1 )   71 - 71   2024年1月

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    記述言語:日本語   出版者・発行元:(一社)日本小児神経学会  

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  • West症候群に対するVGBの6年間の使用経験

    道上 理絵, 土屋 弘樹, 柴田 敬, 秋山 麻里, 秋山 倫之, 小林 勝弘

    てんかん研究   41 ( 2 )   403 - 403   2023年9月

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    記述言語:日本語   出版者・発行元:(一社)日本てんかん学会  

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受賞

  • JUHN AND MARY WADA奨励賞

    2011年10月   日本てんかん学会  

    秋山 麻里

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  • 岡山医学会賞(新見賞)

    2010年   岡山医学会  

    秋山 麻里

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共同研究・競争的資金等の研究

  • ケトン食による代謝変化の網羅的検討:新たな創薬ターゲットを目指して

    2019年04月 - 2022年03月

    公益財団法人 てんかん治療研究振興財団  2019年度研究助成 

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    担当区分:研究代表者 

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担当授業科目

  • 脳神経系(臓器・系別統合講義) (2024年度) 特別  - その他

  • 臨床検査総論 (2024年度) 特別  - その他

  • 脳神経系(臓器・系別統合講義) (2023年度) 特別  - その他

  • 臨床検査総論 (2023年度) 特別  - その他

  • 脳神経系(臓器・系別統合講義) (2022年度) 特別  - その他