研究者詳細 - 秋山　倫之

論文 - 秋山　倫之

分割表示 172 件中 21 - 40 件目／全件表示 >>

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 2023年8月

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

PubMed

researchmap

Epilepsy in Children With Congenital Heart Disease: Risk Factors and Characteristic Presentations. 査読国際誌

Takashi Shibata, Maiko Kondo, Yosuke Fukushima, Mari Akiyama, Tomoyuki Akiyama, Teruko Morooka, Kenji Baba, Shinichi Ohtsuki, Hirokazu Tsukahara, Shingo Kasahara, Katsuhiro Kobayashi

Pediatric neurology 147 28 - 35 2023年7月

記述言語：英語掲載種別：研究論文（学術雑誌）

BACKGROUND: Children with a congenital heart disease (CHD) are at a higher risk of developing epilepsy than the general population, but detailed characteristics of CHD-associated epilepsy have not been clarified. The purposes of this study were to determine the risk factors for developing epilepsy associated with CHD and to elucidate the characteristics of such epilepsy. METHODS: We performed a retrospective cohort study based on medical records of pediatric patients with CHD who were born between January 2006 and December 2016, underwent cardiac surgery at Okayama University Hospital, and were followed up until at least age three years. Multivariate logistic regression analysis was used to determine factors particularly associated with epilepsy occurrence. In patients who developed epilepsy, clinical data on seizure characteristics were further investigated. RESULTS: We collected data from 1024 patients, and 41 (4.0%) developed epilepsy. The presence of underlying disease (odds ratio [OR]: 2.413; 95% confidence interval [CI]: 1.150 to 4.883) and the Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery score category 2 (OR: 4.373; 95% CI: 1.090 to 29.150) and category 5 (OR: 10.385; 95% CI: 1.717 to 89.016) were significantly related to epilepsy occurrence. Of the 41 patients with epilepsy, 15 (including nine with hypoplastic left heart syndrome) had focal impaired awareness seizures specified as autonomic seizures with vomiting, which tends to escape detection. CONCLUSIONS: We clarified the risk factors for developing epilepsy in children with CHD. We also found that autonomic seizure with vomiting is an important symptom in these children.

DOI： 10.1016/j.pediatrneurol.2023.07.004

PubMed

researchmap

脳梁離断術後の活動性低下,食思不振が長期化しうる要因とは

土屋弘樹, 大野友香子, 道上理絵, 柴田敬, 秋山麻里, 佐々木達也, 伊達勲, 秋山倫之, 小林勝弘

脳と発達 55 ( Suppl. ) S281 - S281 2023年5月

一次運動野付近にてんかん原性領域を疑われ,術式選択に苦慮したWest症候群の1例

時岡礼恵, 土屋弘樹, 秋山倫之, 佐々木達也, 伊達勲, 小林勝弘

脳と発達 55 ( Suppl. ) S281 - S281 2023年5月

結節性硬化症を背景とした焦点てんかんの生後2ヵ月児に対する早期てんかん外科治療の1例

竹中暁, 品川穣, 秋山麻里, 柴田敬, 土屋弘樹, 秋山倫之, 佐々木達也, 伊達勲, 小林勝弘

脳と発達 55 ( Suppl. ) S423 - S423 2023年5月

マイクロアレイ染色体検査にてCharcot-Marie-Tooth病責任領域の重複が認められたMiller-Dieker症候群の遺伝カウンセリング

十川麗美, 秋山倫之, 衛藤英理子, 二川摩周, 加藤芙美乃, 山本英喜, 平沢晃, 大守伊織, 小林勝弘

脳と発達 55 ( Suppl. ) S302 - S302 2023年5月

一次運動野付近にてんかん原性領域を疑われ,術式選択に苦慮したWest症候群の1例

時岡礼恵, 土屋弘樹, 秋山倫之, 佐々木達也, 伊達勲, 小林勝弘

脳と発達 55 ( Suppl. ) S281 - S281 2023年5月

脳梁離断術後の活動性低下,食思不振が長期化しうる要因とは

土屋弘樹, 大野友香子, 道上理絵, 柴田敬, 秋山麻里, 佐々木達也, 伊達勲, 秋山倫之, 小林勝弘

脳と発達 55 ( Suppl. ) S281 - S281 2023年5月

結節性硬化症を背景とした焦点てんかんの生後2ヵ月児に対する早期てんかん外科治療の1例

竹中暁, 品川穣, 秋山麻里, 柴田敬, 土屋弘樹, 秋山倫之, 佐々木達也, 伊達勲, 小林勝弘

脳と発達 55 ( Suppl. ) S423 - S423 2023年5月

青年期発症進行性ミオクローヌスてんかんを呈しMECP2遺伝子変異が判明した一例

秋山麻里, 秋山倫之, 時岡礼恵, 塚原理恵, 浦田奈生子, 竹中暁, 才津浩智, 小林勝弘

脳と発達 55 ( Suppl. ) S336 - S336 2023年5月

Comprehensive study of metabolic changes induced by a ketogenic diet therapy using GC/MS- and LC/MS-based metabolomics 査読

Mari Akiyama, Tomoyuki Akiyama, Daisuke Saigusa, Eiji Hishinuma, Naomi Matsukawa, Takashi Shibata, Hiroki Tsuchiya, Atsushi Mori, Yuji Fujii, Yukiko Mogami, Chiho Tokorodani, Kozue Kuwahara, Yurika Numata-Uematsu, Kenji Inoue, Katsuhiro Kobayashi

Seizure 107 52 - 59 2023年4月

Artificial intelligence-based detection of epileptic discharges from pediatric scalp electroencephalograms: a pilot study 査読

Katsuhiro Kobayashi, Takashi Shibata, Hiroki Tsuchiya, Tomoyuki Akiyama

Acta Medica Okayama 76 ( 6 ) 617 - 624 2022年12月

記述言語：英語掲載種別：研究論文（学術雑誌）

We developed an artificial intelligence (AI) technique to identify epileptic discharges (spikes) in pediatric scalp electroencephalograms (EEGs). We built a convolutional neural network (CNN) model to automatically classify steep potential images into spikes and background activity. For the CNN model' training and validation, we examined 100 children with spikes in EEGs and another 100 without spikes. A different group of 20 children with spikes and 20 without spikes were the actual test subjects. All subjects were ≥ 3 to < 18 years old. The accuracy, sensitivity, and specificity of the analysis were >0.97 when referential and combination EEG montages were used, and < 0.97 with a bipolar montage. The correct classification of background activity in individual patients was significantly better with a referential montage than with a bipolar montage (p=0.0107). Receiver operating characteristic curves yielded an area under the curve > 0.99, indicating high performance of the classification method. EEG patterns that interfered with correct classification included vertex sharp transients, sleep spindles, alpha rhythm, and low-amplitude ill-formed spikes in a run. Our results demonstrate that AI is a promising tool for automatically interpreting pediatric EEGs. Some avenues for improving the technique were also indicated by our findings.

DOI： 10.18926/AMO/64111

PubMed

researchmap

AIにより小児頭皮脳波からてんかん発射を検出するための試験的研究

小林勝弘, 柴田敬, 土屋弘樹, 秋山倫之

臨床神経生理学 50 ( 5 ) 417 - 417 2022年10月

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency. 査読国際誌

Yuki Hyodo, Tomoyuki Akiyama, Tetsuhiro Fukuyama, Masakazu Mimaki, Keiko Watanabe, Tadayuki Kumagai, Katsuhiro Kobayashi

Clinica chimica acta; international journal of clinical chemistry 534 167 - 172 2022年9月

記述言語：英語掲載種別：研究論文（学術雑誌）

OBJECTIVES: Sepiapterin reductase deficiency (SRD) causes central nervous system symptoms due to dopamine and serotonin depletion because sepiapterin reductase plays an important role in tetrahydrobiopterin biosynthesis. SRD cannot be detected by newborn screening because of the absent hyperphenylalaninemia. To diagnose SRD biochemically, confirmation of reduced monoamine metabolites and elevated sepiapterin in the cerebrospinal fluid (CSF) has been considered necessary, because a past study showed no elevation of urine sepiapterin. Recently, however, the elevation of urine sepiapterin in SRD was reported. METHODS: We developed a fast method to measure sepiapterin and creatinine simultaneously using high-performance liquid chromatography with fluorescence and ultraviolet detection. Urine sepiapterin and creatinine were measured in three SRD patients, two SRD carriers, four SRD siblings, and 103 non-SRD patients. RESULTS: In the three SRD cases, concentrations of urine sepiapterin were 1086, 914, and 575 µmol/mol creatinine (upper limit: 101.7 µmol/mol creatinine), and were markedly higher than those in other groups. CSF sepiapterin concentration was also measured in one SRD case and it was 4.1 nmol/L (upper limit: 0.5 nmol/L). CONCLUSIONS: The simultaneous determination of urine sepiapterin and creatinine appears helpful for the diagnosis of SRD. This assay system can also be used to measure sepiapterin in the CSF.

DOI： 10.1016/j.cca.2022.07.016

PubMed

researchmap

Folic acid inhibits 5‐methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases 査読国際誌

Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, Naohiro Yamamoto, Yumi Yamada, Kazuya Igarashi, Tomohiko Ishihara, Yuya Hatano, Katsuhiro Kobayashi

JIMD Reports 63 ( 6 ) 529 - 535 2022年8月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：Wiley

Objective: The use of folic acid (FA) has been discouraged in cerebral folate deficiency (CFD) because, theoretically, it could inhibit the transport of 5-methyltetrahydrofolic acid (5MTHF) across the blood-cerebrospinal fluid (CSF) barrier. We present the clinical biochemical data of two cases with CFD to support this hypothesis. Methods: We measured CSF and serum 5MTHF concentrations in a patient with Kearns-Sayre syndrome (KSS) and a patient homozygous for MTHFR C677T polymorphism before and during folate supplementation therapy. To evaluate these 5MTHF concentrations, we also analyzed CSF and serum samples in pediatric patients without folate supplementation. Results: Both patients had low CSF 5MTHF before treatment and high-dose FA therapy did not normalize CSF 5MTHF. There was a dissociation between serum total folate and 5MTHF concentrations during FA therapy, which was considered to be due to the appearance of unmetabolized FA. The addition of folinic acid did not improve low CSF 5MTHF in the KSS patient and the cessation of FA resulted in the normalization of CSF 5MTHF. In the patient homozygous for MTHFR C677T, minimization of the FA dosage resulted in the normalization of CSF 5MTHF and an increased CSF-to-serum 5MTHF ratio. Conclusions: Our data suggest that excess supplementation of FA impaired 5MTHF transport across the blood-CSF barrier. In the treatment of CFD, supplementation of folinic acid or 5MTHF (in cases of impaired 5MTHF synthesis) is preferred over the use of FA. The reference values of CSF 5MTHF concentration based on 600 pediatric cases were also provided.

DOI： 10.1002/jmd2.12321

PubMed

researchmap

その他リンク： https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jmd2.12321

当院における小児のてんかん外科の手術 focal epilepsyとepileptic spasmの治療方針の決定について

佐々木達也, 細本翔, 岡崎洋介, 谷本駿, 皮居巧嗣, 佐々田晋, 安原隆雄, 土屋弘樹, 秋山倫之, 小林勝弘, 伊達勲

てんかん研究 40 ( 2 ) 401 - 401 2022年8月