{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=401003","label":"url"}],"paper_title":{"en":"亜急性髄膜炎で発症後に,脳脊髄炎を呈したMOG抗体関連疾患の1例","ja":"亜急性髄膜炎で発症後に,脳脊髄炎を呈したMOG抗体関連疾患の1例"},"authors":{"en":[{"name":"Tayama Takahiro"},{"name":"Takeuchi Shunsuke"},{"name":"Takei Mikiko"},{"name":"Fujioka Keisuke"},{"name":"Ono Akemi"},{"name":"Shono Miki"},{"name":"七條 光市"},{"name":"Kondo Shuji"},{"name":"Fukura Shoko"},{"name":"Gohji Aya"},{"name":"Mori Tatsuo"},{"name":"Takahashi Toshiyuki"}],"ja":[{"name":"田山 貴広"},{"name":"竹内 竣亮"},{"name":"武井 美貴子"},{"name":"藤岡 啓介"},{"name":"小野 朱美"},{"name":"庄野 実希"},{"name":"七條 光市"},{"name":"近藤 秀治"},{"name":"福良 翔子"},{"name":"郷司 彩"},{"name":"森 達夫"},{"name":"高橋 利幸"}]},"publication_date":"2023-09","publication_name":{"en":"No to Hattatsu","ja":"脳と発達"},"volume":"Vol.55","number":"No.5","languages":["jpn"],"referee":true,"identifiers":{"issn":["0029-0831"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/118474","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/36966012","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=400546","label":"url"}],"paper_title":{"en":"A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation.","ja":"A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation."},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"Sakamoto Masamune"},{"name":"Tayama Takahiro"},{"name":"Goji Aya"},{"name":"Toda Yoshihiro"},{"name":"Fujita Atsushi"},{"name":"Mizuguchi Takeshi"},{"name":"Urushihara Maki"},{"name":"Matsumoto Naomichi"}],"ja":[{"name":"森 達夫"},{"name":"Sakamoto Masamune"},{"name":"田山 貴広"},{"name":"Goji Aya"},{"name":"Toda Yoshihiro"},{"name":"Fujita Atsushi"},{"name":"Mizuguchi Takeshi"},{"name":"漆原 真樹"},{"name":"Matsumoto Naomichi"}]},"description":{"en":"The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality.","ja":"The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3-4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient's genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene."},"publication_date":"2023-03-23","publication_name":{"en":"Brain & Development","ja":"Brain & Development"},"volume":"Vol.45","number":"No.7","starting_page":"395","ending_page":"400","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.braindev.2023.03.001"],"issn":["1872-7131"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=400669","label":"url"}],"paper_title":{"en":"ピエール・ロバン症候群乳児における維持と調整機構を付与したPre-epiglottic baton plateの製作","ja":"ピエール・ロバン症候群乳児における維持と調整機構を付与したPre-epiglottic baton plateの製作"},"authors":{"en":[{"name":"Kamoi Kouhei"},{"name":"大山 正弘"},{"name":"Watanabe Keiichiro"},{"name":"Nakagawa Ryuji"},{"name":"Mori Tatsuo"},{"name":"Koyama Satoshi"},{"name":"Gohji Aya"},{"name":"Fukuda Junya"},{"name":"富永 賢"}],"ja":[{"name":"鴨居 浩平"},{"name":"大山 正弘"},{"name":"渡邉 佳一郎"},{"name":"中川 竜二"},{"name":"森 達夫"},{"name":"小山 智史"},{"name":"郷司 彩"},{"name":"福田 潤弥"},{"name":"富永 賢"}]},"publication_date":"2022-12","publication_name":{"en":"Journal of Japanese Academy of Oral and Maxillofacial Rehabilitation Technology","ja":"日本口腔顎顔面技工学会会誌"},"volume":"Vol.22","number":"No.1","starting_page":"9","ending_page":"15","languages":["jpn"],"referee":true,"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://search.jamas.or.jp/link/ui/2023016771","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1390294341169669632/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=393410","label":"url"}],"paper_title":{"en":"Effective plasmapheresis treatment of intractable visual symptoms of MOG antibody-related disorders","ja":"残存する視覚症状に対して血漿交換が有効であった抗myelin oligodendrocyte glycoprotein抗体関連疾患の男児例"},"authors":{"en":[{"name":"Takeuchi Shunsuke"},{"name":"Mori Tatsuo"},{"name":"Gohji Aya"},{"name":"Takahashi Toshiyuki"},{"name":"Touda Yoshihiro"}],"ja":[{"name":"竹内 竣亮"},{"name":"森 達夫"},{"name":"郷司 彩"},{"name":"高橋 利幸"},{"name":"東田 好広"}]},"publication_date":"2022-11-01","publication_name":{"en":"No to Hattatsu","ja":"脳と発達"},"volume":"Vol.54","number":"No.6","starting_page":"421","ending_page":"425","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.11251/ojjscn.54.421"],"issn":["0029-0831"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://search.jamas.or.jp/link/ui/2022312568","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1520011638683069824/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=398077","label":"url"}],"paper_title":{"en":"免疫療法が著効し,髄液中の抗グルタミン酸受容体抗体が陽性であった小児自己免疫性溶連菌感染関連性精神神経障害が疑われた1例","ja":"免疫療法が著効し,髄液中の抗グルタミン酸受容体抗体が陽性であった小児自己免疫性溶連菌感染関連性精神神経障害が疑われた1例"},"authors":{"en":[{"name":"Aoi Shun"},{"name":"Umehara Hidehiro"},{"name":"Gohji Aya"},{"name":"Mori Tatsuo"},{"name":"Touda Yoshihiro"},{"name":"高橋 幸利"},{"name":"Ohmori Tetsuro"}],"ja":[{"name":"青井 駿"},{"name":"梅原 英裕"},{"name":"郷司 彩"},{"name":"森 達夫"},{"name":"東田 好広"},{"name":"高橋 幸利"},{"name":"大森 哲郎"}]},"publication_date":"2022-07-25","publication_name":{"en":"Psychiatria et Neurologia Japonica","ja":"精神神經學雜誌"},"volume":"Vol.124","number":"No.7","starting_page":"447","ending_page":"456","languages":["jpn"],"referee":true,"identifiers":{"issn":["0033-2658"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=400294","label":"url"}],"paper_title":{"en":"読字障害と脳活動に関する最新の研究","ja":"読字障害と脳活動に関する最新の研究"},"authors":{"en":[{"name":"Mori Kenji"},{"name":"森 慶子"},{"name":"野崎 夏江"},{"name":"河井 ちひろ"},{"name":"Takahashi Kumi"},{"name":"Hashimoto Hiroko"},{"name":"Gohji Aya"},{"name":"Mori Tatsuo"}],"ja":[{"name":"森 健治"},{"name":"森 慶子"},{"name":"野崎 夏江"},{"name":"河井 ちひろ"},{"name":"髙橋 久美"},{"name":"橋本 浩子"},{"name":"郷司 彩"},{"name":"森 達夫"}]},"publication_date":"2022-07","publication_name":{"en":"精神科","ja":"精神科"},"volume":"Vol.41","number":"No.1","starting_page":"126","ending_page":"132","languages":["jpn"],"referee":true,"invited":true,"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/116186","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=381010","label":"url"}],"paper_title":{"en":"A partial ARID1B deletion in a female child with intractable epilepsy","ja":"A partial ARID1B deletion in a female child with intractable epilepsy"},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"Aya Goji"},{"name":"Yoshihiro Toda"},{"name":"Ito Hiromichi"},{"name":"Kawarai Toshitaka"},{"name":"Atsushi Fujita"},{"name":"Naomichi Matsumoto"},{"name":"Mori Kenji"}],"ja":[{"name":"森 達夫"},{"name":"Aya Goji"},{"name":"Yoshihiro Toda"},{"name":"伊藤 弘道"},{"name":"瓦井 俊孝"},{"name":"Atsushi Fujita"},{"name":"Naomichi Matsumoto"},{"name":"森 健治"}]},"publication_date":"2021-04-03","publication_name":{"en":"Epilepsy & Seizure","ja":"Epilepsy & Seizure"},"volume":"Vol.13","number":"No.1","starting_page":"45","ending_page":"50","languages":["eng"],"referee":true,"identifiers":{"doi":["10.3805/eands.13.45"],"issn":["1882-5567"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1390005667266618880/","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85105807980&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=381017","label":"url"}],"paper_title":{"en":"Usefulness of individual support and medication for autism spectrum disorder traits in a boy with cyclic vomiting syndrome","ja":"自閉スペクトラム症の特性に応じた個別支援と薬物治療が有用であった周期性嘔吐症の男児例"},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"Gohji Aya"},{"name":"Touda Yoshihiro"},{"name":"Okada Asami"},{"name":"Kotani Yumiko"},{"name":"Kagami Shoji"}],"ja":[{"name":"森 達夫"},{"name":"郷司 彩"},{"name":"東田 好広"},{"name":"岡田 朝美"},{"name":"小谷 裕美子"},{"name":"香美 祥二"}]},"description":{"en":"Herein we report the case of a 7-year-old boy with cyclic vomiting syndrome (CVS) successfully treated with judicious management and medication of autism spectrum disorder (ASD) traits. Radical surgery for esophageal atresia (Gross C) was performed during the neonatal period. The patient's mother and grandmother both had migraines. The cyclic vomiting began when he was 1 year and 4 months of age, and the episodes occurred 1-3 times monthly. Various drug treatments were tested, but were not effective in controlling the vomiting events. The patient was referred to our hospital at the age of 7 years and 4 months for consultation and treatment. We arrived at a diagnosis of ASD due to observable traits including avoidance of eye contact, obsessiveness, and difficulty in communication. Subsequently, we began individual support and medication for ASD traits to alleviate the CVS. The school has begun to support for his behaviors associated with ASD. Consequently, the psychological anxiety regarding school attendance was addressed, allowing the patient to return to school. When prophylactic drug treatment was changed to the combination of risperidone, amitriptin, and sodium valproate, the vomiting attacks discontinued. The patient is now aged 9 years and 3 months, and has experienced no recurrent vomiting episodes in the past 14 months. In conclusion, it is important to consider the possible coexistence of developmental disorders in patients with intractable CVS, and to provide the reasonable accommodation and treatment for optimal outcomes.","ja":"自閉スペクトラム症 (ASD) の特性に応じた個別支援および投薬が発作消失に有用であった周期性嘔吐症の7歳男児例を経験したので報告する. 新生児期に食道閉鎖症 (Gross C) に対する根治術の既往歴あり. 母親と祖母に片頭痛の家族歴あり. 周期性嘔吐症は1歳4か月時に発症し, 以後月に1~3回の嘔吐発作が持続した. 様々な薬物治療が試みられたが, 嘔吐発作の抑制には効果がなかった. 精査加療目的で, 7歳4か月時に当科に紹介された. その際, 視線の合いにくさ, 強迫観念, コミュニケーションの困難さなどの特性があり, ASDの診断に至った. そこで, ASD特性への配慮と薬物治療を行うことで周期性嘔吐症の改善を目指した. 学校でも特性に応じた配慮が受けられるようになり, 通学に対する不安が解消され, 登校できるようになった. 予防薬は, risperidone, amitriptin, sodium valproateの3剤の組み合わせに変更した時点で, 嘔吐発作は消失した. 現在9歳3か月となったが, ここ14か月の間に嘔吐発作の再発は認めていない. 難治性の周期性嘔吐症患者においては, 発達障害の有無の精査とそれに対する支援が重要であると考えた."},"publication_date":"2021","publication_name":{"en":"No to Hattatsu","ja":"脳と発達"},"volume":"Vol.53","number":"No.1","starting_page":"54","ending_page":"57","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.11251/ojjscn.53.54"],"issn":["0029-0831"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/115412","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/33148896","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85095598029&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=374139","label":"url"}],"paper_title":{"en":"Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilities","ja":"Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilities"},"authors":{"en":[{"name":"Suga Ken-ichi"},{"name":"Imoto Issei"},{"name":"Ito Hiromichi"},{"name":"Naruto Takuya"},{"name":"Gohji Aya"},{"name":"Osumi Keita"},{"name":"Tokaji Narumi"},{"name":"Homma Yukako"},{"name":"Ono Akemi"},{"name":"Ichihara Yuko"},{"name":"Shono Miki"},{"name":"Mori Tatsuo"},{"name":"Urushihara Maki"},{"name":"Nakagawa Ryuji"},{"name":"Hayabuchi Yasunobu"},{"name":"Kagami Shoji"}],"ja":[{"name":"須賀 健一"},{"name":"井本 逸勢"},{"name":"伊藤 弘道"},{"name":"成戸 卓也"},{"name":"郷司 彩"},{"name":"Osumi Keita"},{"name":"Tokaji Narumi"},{"name":"本間 友佳子"},{"name":"小野 朱美"},{"name":"市原 裕子"},{"name":"庄野 実希"},{"name":"森 達夫"},{"name":"漆原 真樹"},{"name":"中川 竜二"},{"name":"早渕 康信"},{"name":"香美 祥二"}]},"description":{"en":"Background : In clinical practice, a large proportion of patients with multiple congenital anomalies and/or intellectual disabilities (MCA / ID) lacks a specific diagnosis. Recently, next-generation sequencing (NGS) has become an efficient strategy for genetic diagnosis of patients with MCA/ID. To review the utility of NGS for the diagnosis of patients with MCA / ID. Patients with MCA/ID were recruited between 2013 and 2017. Molecular diagnosis was performed using NGS-based targeted panel sequencing for 4,813 genes. Promising causative variants underwent confirmation by Sanger sequencing or chromosomal microarray. Eighteen patients with MCA/ID were enrolled in this study. Of them, 8 cases (44%) were diagnosed by targeted panel sequencing. Most of diagnosed patients were able to receive better counseling and more appropriate medical management. NGS-based targeted panel sequencing seems to be an effective testing strategy for diagnosis of patients with MCA/ID. J. Med. Invest. 67 : 246-249, August, 2020.","ja":"Background : In clinical practice, a large proportion of patients with multiple congenital anomalies and/or intellectual disabilities (MCA / ID) lacks a specific diagnosis. Recently, next-generation sequencing (NGS) has become an efficient strategy for genetic diagnosis of patients with MCA/ID. To review the utility of NGS for the diagnosis of patients with MCA / ID. Patients with MCA/ID were recruited between 2013 and 2017. Molecular diagnosis was performed using NGS-based targeted panel sequencing for 4,813 genes. Promising causative variants underwent confirmation by Sanger sequencing or chromosomal microarray. Eighteen patients with MCA/ID were enrolled in this study. Of them, 8 cases (44%) were diagnosed by targeted panel sequencing. Most of diagnosed patients were able to receive better counseling and more appropriate medical management. NGS-based targeted panel sequencing seems to be an effective testing strategy for diagnosis of patients with MCA/ID. J. Med. Invest. 67 : 246-249, August, 2020."},"publication_date":"2020-12-01","publication_name":{"en":"The Journal of Medical Investigation : JMI","ja":"The Journal of Medical Investigation : JMI"},"volume":"Vol.67","number":"No.3, 4","starting_page":"246","ending_page":"249","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2152/jmi.67.246"],"issn":["1349-6867"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/116193","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/32695431","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85088011488&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=374138","label":"url"}],"paper_title":{"en":"Molecular diagnosis of an infant with TSC2/ PKD1 contiguous gene syndrome","ja":"Molecular diagnosis of an infant with TSC2/ PKD1 contiguous gene syndrome"},"authors":{"en":[{"name":"Osumi Keita"},{"name":"Suga Ken-ichi"},{"name":"Ono Akemi"},{"name":"Gohji Aya"},{"name":"Mori Tatsuo"},{"name":"Kinoshita Yukiko"},{"name":"Sugano Mikio"},{"name":"Touda Yoshihiro"},{"name":"Urushihara Maki"},{"name":"Nakagawa Ryuji"},{"name":"Hayabuchi Yasunobu"},{"name":"Imoto Issei"},{"name":"Kagami Shoji"}],"ja":[{"name":"Osumi Keita"},{"name":"須賀 健一"},{"name":"小野 朱美"},{"name":"郷司 彩"},{"name":"森 達夫"},{"name":"木下 ゆき子"},{"name":"菅野 幹雄"},{"name":"東田 好広"},{"name":"漆原 真樹"},{"name":"中川 竜二"},{"name":"早渕 康信"},{"name":"井本 逸勢"},{"name":"香美 祥二"}]},"description":{"en":"A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with / contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons 19-42 of and exons 2-46 of . Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease.","ja":"A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with / contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons 19-42 of and exons 2-46 of . Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease."},"publication_date":"2020-07-16","publication_name":{"en":"Human Genome Variation","ja":"Human Genome Variation"},"volume":"Vol.7","number":"No.21","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1038/s41439-020-0108-0"],"issn":["2054-345X"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/32505480","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=370499","label":"url"}],"paper_title":{"en":"Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan.","ja":"Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan."},"authors":{"en":[{"name":"Okamoto Kentaro"},{"name":"Motoki Takahiro"},{"name":"Saito Isao"},{"name":"Urate Risako"},{"name":"Aibara Kaori"},{"name":"Jogamoto Toshihiro"},{"name":"Fukuda Mitsumasa"},{"name":"Wakamoto Hiroyuki"},{"name":"Maniwa Satoshi"},{"name":"Kondo Yoichi"},{"name":"Toda Yoshihiro"},{"name":"Goji Aya"},{"name":"Mori Tatsuo"},{"name":"Soga Tomohiro"},{"name":"Konishi Yukihiko"},{"name":"Nagai Shigehiro"},{"name":"Takami Yoko"},{"name":"Tokorodani Chiho"},{"name":"Nishiuchi Ritsuo"},{"name":"Usui Daisuke"},{"name":"Ando Rina"},{"name":"Tada Satoshi"},{"name":"Yamanishi Yuki"},{"name":"Nagai Masahiro"},{"name":"Arakawa Reiko"},{"name":"Saito Kayoko"},{"name":"Nishio Hisahide"},{"name":"Ishii Eiichi"},{"name":"Eguchi Mariko"}],"ja":[{"name":"Okamoto Kentaro"},{"name":"Motoki Takahiro"},{"name":"Saito Isao"},{"name":"Urate Risako"},{"name":"Aibara Kaori"},{"name":"Jogamoto Toshihiro"},{"name":"Fukuda Mitsumasa"},{"name":"Wakamoto Hiroyuki"},{"name":"Maniwa Satoshi"},{"name":"Kondo Yoichi"},{"name":"Toda Yoshihiro"},{"name":"Goji Aya"},{"name":"森 達夫"},{"name":"曽我 朋宏"},{"name":"Konishi Yukihiko"},{"name":"Nagai Shigehiro"},{"name":"Takami Yoko"},{"name":"Tokorodani Chiho"},{"name":"Nishiuchi Ritsuo"},{"name":"Usui Daisuke"},{"name":"Ando Rina"},{"name":"Tada Satoshi"},{"name":"Yamanishi Yuki"},{"name":"Nagai Masahiro"},{"name":"Arakawa Reiko"},{"name":"Saito Kayoko"},{"name":"Nishio Hisahide"},{"name":"Ishii Eiichi"},{"name":"Eguchi Mariko"}]},"description":{"en":"Our data showed the prevalence of SMA types 2 and 3 was relatively low on Shikoku compared with previous reports from other countries, suggesting delayed diagnosis may affect the results. Remaining motor function may be one predicting factor. Greater awareness of SMA among clinicians and patients seems necessary for more accurate epidemiological studies.","ja":"Our data showed the prevalence of SMA types 2 and 3 was relatively low on Shikoku compared with previous reports from other countries, suggesting delayed diagnosis may affect the results. Remaining motor function may be one predicting factor. Greater awareness of SMA among clinicians and patients seems necessary for more accurate epidemiological studies."},"publication_date":"2020-06-03","publication_name":{"en":"Brain & Development","ja":"Brain & Development"},"volume":"Vol.42","number":"No.8","starting_page":"594","ending_page":"602","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.braindev.2020.05.004"],"issn":["1872-7131"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/32247529","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=370500","label":"url"}],"paper_title":{"en":"Improvement of epilepsy with lacosamide in a patient with ring chromosome 20 syndrome.","ja":"Improvement of epilepsy with lacosamide in a patient with ring chromosome 20 syndrome."},"authors":{"en":[{"name":"Tayama Takahiro"},{"name":"Mori Tatsuo"},{"name":"Goji Aya"},{"name":"Toda Yoshihiro"},{"name":"Kagami Shoji"}],"ja":[{"name":"Tayama Takahiro"},{"name":"森 達夫"},{"name":"Goji Aya"},{"name":"Toda Yoshihiro"},{"name":"香美 祥二"}]},"description":{"en":"Although VPA and LTG are generally effective for the treatment of ring chromosome 20 syndrome, they do not completely suppress seizures. LCM can be considered an effective option for seizure control in patients with this syndrome.","ja":"Although VPA and LTG are generally effective for the treatment of ring chromosome 20 syndrome, they do not completely suppress seizures. LCM can be considered an effective option for seizure control in patients with this syndrome."},"publication_date":"2020-04-01","publication_name":{"en":"Brain & Development","ja":"Brain & Development"},"volume":"Vol.42","number":"No.6","starting_page":"473","ending_page":"476","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.braindev.2020.03.003"],"issn":["1872-7131"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114394","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/32088024","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=363539","label":"url"}],"paper_title":{"en":"Multi-delay arterial spin labeling brain magnetic resonance imaging study for pediatric autism.","ja":"Multi-delay arterial spin labeling brain magnetic resonance imaging study for pediatric autism."},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"Ito Hiromichi"},{"name":"Harada Masafumi"},{"name":"Hisaoka Sonoka"},{"name":"Matsumoto Yuki"},{"name":"Goji Aya"},{"name":"Toda Yoshihiro"},{"name":"Mori Kenji"},{"name":"Kagami Shoji"}],"ja":[{"name":"森 達夫"},{"name":"伊藤 弘道"},{"name":"原田 雅史"},{"name":"Hisaoka Sonoka"},{"name":"松元 友暉"},{"name":"Goji Aya"},{"name":"Toda Yoshihiro"},{"name":"森 健治"},{"name":"香美 祥二"}]},"description":{"en":"Arterial spin labeling (ASL) is a non-invasive magnetic resonance imaging (MRI) technique that can measure regional cerebral blood flow (rCBF) without radiation exposure. This study aimed to evaluate rCBF in individuals with autism and their age-matched controls, globally and regionally.","ja":"We concluded that patients with ASD showed a statistically significant decline in CBF in regions associated with the mirror neuron system. The advantages of ASL MRI include low invasiveness (no radiation exposure) and short imaging time (approximately 5 min). Studies with larger sample sizes are required to establish the diagnostic value of ASL MRI for ASD."},"publication_date":"2020-02-19","publication_name":{"en":"Brain & Development","ja":"Brain & Development"},"volume":"Vol.42","number":"No.4","starting_page":"315","ending_page":"321","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.braindev.2020.01.007"],"issn":["1872-7131"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114240","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/31353122","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=366958","label":"url"}],"paper_title":{"en":"A 16q22.2-q23.1 deletion identified in a male infant with West syndrome.","ja":"A 16q22.2-q23.1 deletion identified in a male infant with West syndrome."},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"Touda Yoshihiro"},{"name":"Ito Hiromichi"},{"name":"Mori Kenji"},{"name":"Kohmoto Tomohiro"},{"name":"Imoto Issei"},{"name":"Kagami Shoji"}],"ja":[{"name":"森 達夫"},{"name":"東田 好広"},{"name":"伊藤 弘道"},{"name":"森 健治"},{"name":"河本 知大"},{"name":"井本 逸勢"},{"name":"香美 祥二"}]},"description":{"en":"In partial monosomy of the distal part of chromosome 16q, abnormal facial features, intellectual disability (ID), and feeding dysfunction are often reported. However, seizures are not typical and the majority of them were seizure-free. Here we present the case of a 16q22.2-q23.1 interstitial deletion identified in a male patient with severe ID, facial anomalies including forehead protrusions and flat nose bridge, patent ductus arteriosus, bilateral vocal cord atresia treated by tracheotomy, and West syndrome, which were developed 10months after birth. Although phenobarbital, sodium valproate (VPA), and zonisamide were not effective as monotherapies or combination therapies, the patient's epileptic seizures and electroencephalogram anomalies disappeared following combined therapy with lamotrigine and VPA. Although WW Domain Containing Oxidoreductase (WWOX), which is known as a cause of autosomal recessive epileptic encephalopathy, was included within the 6.8-Mb deleted region which identified by targeted panel sequencing and validated by chromosomal microarray analysis, no pathogenic variants were detected in the other allele of WWOX. Therefore, it is possible that other genes within or outside of the long deleted region or their interactions may cause West syndrome in this patient.","ja":"In partial monosomy of the distal part of chromosome 16q, abnormal facial features, intellectual disability (ID), and feeding dysfunction are often reported. However, seizures are not typical and the majority of them were seizure-free. Here we present the case of a 16q22.2-q23.1 interstitial deletion identified in a male patient with severe ID, facial anomalies including forehead protrusions and flat nose bridge, patent ductus arteriosus, bilateral vocal cord atresia treated by tracheotomy, and West syndrome, which were developed 10months after birth. Although phenobarbital, sodium valproate (VPA), and zonisamide were not effective as monotherapies or combination therapies, the patient's epileptic seizures and electroencephalogram anomalies disappeared following combined therapy with lamotrigine and VPA. Although WW Domain Containing Oxidoreductase (WWOX), which is known as a cause of autosomal recessive epileptic encephalopathy, was included within the 6.8-Mb deleted region which identified by targeted panel sequencing and validated by chromosomal microarray analysis, no pathogenic variants were detected in the other allele of WWOX. Therefore, it is possible that other genes within or outside of the long deleted region or their interactions may cause West syndrome in this patient."},"publication_date":"2019-07-25","publication_name":{"en":"Brain & Development","ja":"Brain & Development"},"languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.braindev.2019.07.005"],"issn":["1872-7131"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=355747","label":"url"}],"paper_title":{"en":"けいれんと間違えやすい生理的運動・異常行動.","ja":"けいれんと間違えやすい生理的運動・異常行動."},"authors":{"en":[{"name":"Mori Kenji"},{"name":"田山 貴広"},{"name":"Gohji Aya"},{"name":"Mori Tatsuo"},{"name":"Touda Yoshihiro"}],"ja":[{"name":"森 健治"},{"name":"田山 貴広"},{"name":"郷司 彩"},{"name":"森 達夫"},{"name":"東田 好広"}]},"publication_date":"2018","publication_name":{"en":"小児内科","ja":"小児内科"},"number":"No.50","starting_page":"541","ending_page":"544","languages":["jpn"],"referee":true,"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28420309","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85021191879&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=341760","label":"url"}],"paper_title":{"en":"A Proton Magnetic Resonance Spectroscopic Study in Autism Spectrum Disorder Using a 3-Tesla Clinical Magnetic Resonance Imaging (MRI) System: The Anterior Cingulate Cortex and the Left Cerebellum.","ja":"A Proton Magnetic Resonance Spectroscopic Study in Autism Spectrum Disorder Using a 3-Tesla Clinical Magnetic Resonance Imaging (MRI) System: The Anterior Cingulate Cortex and the Left Cerebellum."},"authors":{"en":[{"name":"Ito Hiromichi"},{"name":"Mori Kenji"},{"name":"Harada Masafumi"},{"name":"Hisaoka Sonoka"},{"name":"Touda Yoshihiro"},{"name":"Mori Tatsuo"},{"name":"Gohji Aya"},{"name":"Abe Yoko"},{"name":"Miyazaki Masahito"},{"name":"Kagami Shoji"}],"ja":[{"name":"伊藤 弘道"},{"name":"森 健治"},{"name":"原田 雅史"},{"name":"Hisaoka Sonoka"},{"name":"東田 好広"},{"name":"森 達夫"},{"name":"郷司 彩"},{"name":"Abe Yoko"},{"name":"Miyazaki Masahito"},{"name":"香美 祥二"}]},"description":{"en":"The pathophysiology of autism spectrum disorder (ASD) is not fully understood. We used proton magnetic resonance spectroscopy to investigate metabolite concentration ratios in the anterior cingulate cortex and left cerebellum in ASD. In the ACC and left cerebellum studies, the ASD group and intelligence quotient- and age-matched control group consisted of 112 and 114 subjects and 65 and 45 subjects, respectively. In the ASD group, γ-aminobutyric acid (GABA)+/ creatine/phosphocreatine (Cr) was significantly decreased in the anterior cingulate cortex, and glutamate (Glu)/Cr was significantly increased and GABA+/Cr was significantly decreased in the left cerebellum compared to those in the control group. In addition, both groups showed negative correlations between Glu/Cr and GABA+/Cr in the left cerebellum, and positive correlations between GABA+/Cr in the anterior cingulate cortex and left cerebellum. ASD subjects have hypoGABAergic alterations in the anterior cingulate cortex and hyperglutamatergic/hypoGABAergic alterations in the left cerebellum.","ja":"The pathophysiology of autism spectrum disorder (ASD) is not fully understood. We used proton magnetic resonance spectroscopy to investigate metabolite concentration ratios in the anterior cingulate cortex and left cerebellum in ASD. In the ACC and left cerebellum studies, the ASD group and intelligence quotient- and age-matched control group consisted of 112 and 114 subjects and 65 and 45 subjects, respectively. In the ASD group, γ-aminobutyric acid (GABA)+/ creatine/phosphocreatine (Cr) was significantly decreased in the anterior cingulate cortex, and glutamate (Glu)/Cr was significantly increased and GABA+/Cr was significantly decreased in the left cerebellum compared to those in the control group. In addition, both groups showed negative correlations between Glu/Cr and GABA+/Cr in the left cerebellum, and positive correlations between GABA+/Cr in the anterior cingulate cortex and left cerebellum. ASD subjects have hypoGABAergic alterations in the anterior cingulate cortex and hyperglutamatergic/hypoGABAergic alterations in the left cerebellum."},"publication_date":"2017-04-19","publication_name":{"en":"Journal of Child Neurology","ja":"Journal of Child Neurology"},"volume":"Vol.32","number":"No.8","starting_page":"731","ending_page":"739","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1177/0883073817702981"],"issn":["1708-8283"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/112363","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/28060873","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85009237719&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=341744","label":"url"}],"paper_title":{"en":"Assessment of Anterior Cingulate Cortex (ACC) and Left Cerebellar Metabolism in Asperger's Syndrome with Proton Magnetic Resonance Spectroscopy (MRS).","ja":"Assessment of Anterior Cingulate Cortex (ACC) and Left Cerebellar Metabolism in Asperger's Syndrome with Proton Magnetic Resonance Spectroscopy (MRS)."},"authors":{"en":[{"name":"Goji Aya"},{"name":"Ito Hiromichi"},{"name":"Mori Kenji"},{"name":"Harada Masafumi"},{"name":"Hisaoka Sonoka"},{"name":"Touda Yoshihiro"},{"name":"Mori Tatsuo"},{"name":"Abe Yoko"},{"name":"Miyazaki Masahito"},{"name":"Kagami Shoji"}],"ja":[{"name":"Goji Aya"},{"name":"伊藤 弘道"},{"name":"森 健治"},{"name":"原田 雅史"},{"name":"Hisaoka Sonoka"},{"name":"東田 好広"},{"name":"森 達夫"},{"name":"Abe Yoko"},{"name":"Miyazaki Masahito"},{"name":"香美 祥二"}]},"description":{"en":"Proton magnetic resonance spectroscopy (1H MRS) is a noninvasive neuroimaging method to quantify biochemical metabolites in vivo and it can serve as a powerful tool to monitor neurobiochemical profiles in the brain. Asperger's syndrome (AS) is a type of autism spectrum disorder, which is characterized by impaired social skills and restrictive, repetitive patterns of interest and activities, while intellectual levels and language skills are relatively preserved. Despite clinical aspects have been well-characterized, neurometabolic profiling in the brain of AS remains to be clear. The present study used proton magnetic resonance spectroscopy (1H MRS) to investigate whether pediatric AS is associated with measurable neurometabolic abnormalities that can contribute new information on the neurobiological underpinnings of the disorder. Study participants consisted of 34 children with AS (2-12 years old; mean age 5.2 (±2.0); 28 boys) and 19 typically developed children (2-11 years old; mean age 5.6 (±2.6); 12 boys) who served as the normal control group. The 1H MRS data were obtained from two regions of interest: the anterior cingulate cortex (ACC) and left cerebellum. In the ACC, levels of N-acetylaspartate (NAA), total creatine (tCr), total choline-containing compounds (tCho) and myo-Inositol (mI) were significantly decreased in children with AS compared to controls. On the other hand, no significant group differences in any of the metabolites were found in the left cerebellum. Neither age nor sex accounted for the metabolic findings in the regions. The finding of decreased levels of NAA, tCr, tCho, and mI in the ACC but not in left cerebellar voxels in the AS, suggests a lower ACC neuronal density in the present AS cohort compared to controls.","ja":"Proton magnetic resonance spectroscopy (1H MRS) is a noninvasive neuroimaging method to quantify biochemical metabolites in vivo and it can serve as a powerful tool to monitor neurobiochemical profiles in the brain. Asperger's syndrome (AS) is a type of autism spectrum disorder, which is characterized by impaired social skills and restrictive, repetitive patterns of interest and activities, while intellectual levels and language skills are relatively preserved. Despite clinical aspects have been well-characterized, neurometabolic profiling in the brain of AS remains to be clear. The present study used proton magnetic resonance spectroscopy (1H MRS) to investigate whether pediatric AS is associated with measurable neurometabolic abnormalities that can contribute new information on the neurobiological underpinnings of the disorder. Study participants consisted of 34 children with AS (2-12 years old; mean age 5.2 (±2.0); 28 boys) and 19 typically developed children (2-11 years old; mean age 5.6 (±2.6); 12 boys) who served as the normal control group. The 1H MRS data were obtained from two regions of interest: the anterior cingulate cortex (ACC) and left cerebellum. In the ACC, levels of N-acetylaspartate (NAA), total creatine (tCr), total choline-containing compounds (tCho) and myo-Inositol (mI) were significantly decreased in children with AS compared to controls. On the other hand, no significant group differences in any of the metabolites were found in the left cerebellum. Neither age nor sex accounted for the metabolic findings in the regions. The finding of decreased levels of NAA, tCr, tCho, and mI in the ACC but not in left cerebellar voxels in the AS, suggests a lower ACC neuronal density in the present AS cohort compared to controls."},"publication_date":"2017-01-06","publication_name":{"en":"PLoS ONE","ja":"PLoS ONE"},"number":"No.1","starting_page":"e0169288","ending_page":"e0169288","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1371/journal.pone.0169288"],"issn":["1932-6203"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/27743886","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=330203","label":"url"}],"paper_title":{"en":"A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.","ja":"A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy."},"authors":{"en":[{"name":"Kimizu Tomokazu"},{"name":"Takahashi Yukitoshi"},{"name":"Oboshi Taikan"},{"name":"Horino Asako"},{"name":"Koike Takayoshi"},{"name":"Yoshitomi Shinsaku"},{"name":"Mori Tatsuo"},{"name":"Yamaguchi Tokito"},{"name":"Ikeda Hiroko"},{"name":"Okamoto Nobuhiko"},{"name":"Nakashima Mitsuko"},{"name":"Saitsu Hirotomo"},{"name":"Kato Mitsuhiro"},{"name":"Matsumoto Naomichi"},{"name":"Imai Katsumi"}],"ja":[{"name":"Kimizu Tomokazu"},{"name":"Takahashi Yukitoshi"},{"name":"Oboshi Taikan"},{"name":"Horino Asako"},{"name":"Koike Takayoshi"},{"name":"Yoshitomi Shinsaku"},{"name":"森 達夫"},{"name":"Yamaguchi Tokito"},{"name":"Ikeda Hiroko"},{"name":"Okamoto Nobuhiko"},{"name":"Nakashima Mitsuko"},{"name":"Saitsu Hirotomo"},{"name":"Kato Mitsuhiro"},{"name":"Matsumoto Naomichi"},{"name":"Imai Katsumi"}]},"description":{"en":"This report reviewed the clinical features of patients with a SLC35A2 mutation. ACTH therapy may be effective for refractory epilepsy in these patients.","ja":"This report reviewed the clinical features of patients with a SLC35A2 mutation. ACTH therapy may be effective for refractory epilepsy in these patients."},"publication_date":"2016-10-12","publication_name":{"en":"Brain & Development","ja":"Brain & Development"},"volume":"Vol.39","number":"No.3","starting_page":"256","ending_page":"260","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.braindev.2016.09.009"],"issn":["1872-7131"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/27515477","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=330202","label":"url"}],"paper_title":{"en":"Antibodies against peptides of NMDA-type GluR in cerebrospinal fluid of patients with epileptic spasms.","ja":"Antibodies against peptides of NMDA-type GluR in cerebrospinal fluid of patients with epileptic spasms."},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"Takahashi Yukitoshi"},{"name":"Araya Nami"},{"name":"Oboshi Taikan"},{"name":"Watanabe Hirokazu"},{"name":"Tsukamoto Kazuki"},{"name":"Yamaguchi Tokito"},{"name":"Yoshitomi Shinsaku"},{"name":"Nasu Hirosato"},{"name":"Ikeda Hiroko"},{"name":"Otani Hideyuki"},{"name":"Imai Katsumi"},{"name":"Shigematsu Hideo"},{"name":"Inoue Yushi"}],"ja":[{"name":"森 達夫"},{"name":"Takahashi Yukitoshi"},{"name":"Araya Nami"},{"name":"Oboshi Taikan"},{"name":"Watanabe Hirokazu"},{"name":"Tsukamoto Kazuki"},{"name":"Yamaguchi Tokito"},{"name":"Yoshitomi Shinsaku"},{"name":"Nasu Hirosato"},{"name":"Ikeda Hiroko"},{"name":"Otani Hideyuki"},{"name":"Imai Katsumi"},{"name":"Shigematsu Hideo"},{"name":"Inoue Yushi"}]},"description":{"en":"The CSF level of antibodies against GluN2B in ES patients with unknown cause was estimated to increase after onset. We hypothesize that some ES patients may have immune process after the onset of ES.","ja":"The levels of antibodies against the n-terminal of GluN2B (GluN2B-NT2), c-terminal of GluN2B (GluN2B-CT) and n-terminal of GluN1 (GluN1-NT), were significantly higher in patients with ES than in disease controls (p < 0.01, p < 0.01 & p = 0.03). Levels of antibodies to GluN2B-NT2 & CT were not related with ACTH therapy nor conventional CSF factors (cell counts, protein level, etc). Levels of antibodies to GluN2B-NT2 & CT showed evidence of correlation within a linear regression model with intervals from the onset to the examination of CSF until 25 months (p = 0.01 & p = 0.01). The correlation was significant in patients with unknown cause (p = 0.01). Five of 33 patients (four unknown cause & one chromosomal anomaly) had higher level of antibodies to GluN2B-NT2 exceeding mean + 1 SD of all ES patients, and they had poor motor (score 0) and cognitive outcomes (score 0 or 1)."},"publication_date":"2016-07-13","publication_name":{"en":"European Journal of Paediatric Neurology","ja":"European Journal of Paediatric Neurology"},"volume":"Vol.20","number":"No.6","starting_page":"865","ending_page":"873","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.ejpn.2016.07.006"],"issn":["1532-2130"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/26785903","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=330204","label":"url"}],"paper_title":{"en":"Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy.","ja":"Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy."},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"Imai Katsumi"},{"name":"Oboshi Taikan"},{"name":"Fujiwara Yuh"},{"name":"Takeshita Saoko"},{"name":"Saitsu Hirotomo"},{"name":"Matsumoto Naomichi"},{"name":"Takahashi Yukitoshi"},{"name":"Inoue Yushi"}],"ja":[{"name":"森 達夫"},{"name":"Imai Katsumi"},{"name":"Oboshi Taikan"},{"name":"Fujiwara Yuh"},{"name":"Takeshita Saoko"},{"name":"Saitsu Hirotomo"},{"name":"Matsumoto Naomichi"},{"name":"Takahashi Yukitoshi"},{"name":"Inoue Yushi"}]},"description":{"en":"Migrating partial seizures in infancy (MPSI) are an age-specific epilepsy syndrome characterized by migrating focal seizures, which are intractable to various antiepileptic drugs and cause severe developmental delay. We report a case of MPSI with heterozygous missense mutation in KCNT1, which was successfully managed by ketogenic diet. At age 2months, the patient developed epilepsy initially manifesting focal seizures with eye deviation and apnea, then evolving to secondarily generalized clonic convulsion. Various antiepileptic drugs including phenytoin, valproic acid, zonisamide, clobazam, levetiracetam, vitamin B6, and carbamazepine were not effective, but high-dose phenobarbital allowed discontinuation of midazolam infusion. Ictal scalp electroencephalogram showed migrating focal seizures. MPSI was suspected and she was transferred to our hospital for further treatment. Potassium bromide (KBr) was partially effective, but the effect was transient. High-dose KBr caused severe adverse effects such as over-sedation and hypercapnia, with no further effects on the seizures. At age 9months, we started a ketogenic diet, which improved seizure frequency and severity without obvious adverse effects, allowing her to be discharged from hospital. Ketogenic diet should be tried in patients with MPSI unresponsive to antiepileptic drugs. In MPSI, the difference in treatment response in patients with and those without KCNT1 mutation remains unknown. Accumulation of case reports would contribute to establish effective treatment options for MPSI.","ja":"Migrating partial seizures in infancy (MPSI) are an age-specific epilepsy syndrome characterized by migrating focal seizures, which are intractable to various antiepileptic drugs and cause severe developmental delay. We report a case of MPSI with heterozygous missense mutation in KCNT1, which was successfully managed by ketogenic diet. At age 2months, the patient developed epilepsy initially manifesting focal seizures with eye deviation and apnea, then evolving to secondarily generalized clonic convulsion. Various antiepileptic drugs including phenytoin, valproic acid, zonisamide, clobazam, levetiracetam, vitamin B6, and carbamazepine were not effective, but high-dose phenobarbital allowed discontinuation of midazolam infusion. Ictal scalp electroencephalogram showed migrating focal seizures. MPSI was suspected and she was transferred to our hospital for further treatment. Potassium bromide (KBr) was partially effective, but the effect was transient. High-dose KBr caused severe adverse effects such as over-sedation and hypercapnia, with no further effects on the seizures. At age 9months, we started a ketogenic diet, which improved seizure frequency and severity without obvious adverse effects, allowing her to be discharged from hospital. Ketogenic diet should be tried in patients with MPSI unresponsive to antiepileptic drugs. In MPSI, the difference in treatment response in patients with and those without KCNT1 mutation remains unknown. Accumulation of case reports would contribute to establish effective treatment options for MPSI."},"publication_date":"2016-01-11","publication_name":{"en":"Brain & Development","ja":"Brain & Development"},"volume":"Vol.38","number":"No.6","starting_page":"601","ending_page":"604","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.braindev.2015.12.012"],"issn":["1872-7131"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/111242","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25817280","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84925849527&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=303126","label":"url"}],"paper_title":{"en":"Neuroimaging in autism spectrum disorders: 1H-MRS and NIRS study","ja":"Neuroimaging in autism spectrum disorders: 1H-MRS and NIRS study"},"authors":{"en":[{"name":"Mori Kenji"},{"name":"Touda Yoshihiro"},{"name":"Ito Hiromichi"},{"name":"Mori Tatsuo"},{"name":"Mori Keiko"},{"name":"Goji Aya"},{"name":"Hashimoto Hiroko"},{"name":"Tani Hiroe"},{"name":"Miyazaki Masahito"},{"name":"Harada Masafumi"},{"name":"Kagami Shoji"}],"ja":[{"name":"森 健治"},{"name":"東田 好広"},{"name":"伊藤 弘道"},{"name":"森 達夫"},{"name":"Mori Keiko"},{"name":"Goji Aya"},{"name":"橋本 浩子"},{"name":"谷 洋江"},{"name":"Miyazaki Masahito"},{"name":"原田 雅史"},{"name":"香美 祥二"}]},"description":{"en":"Using proton magnetic resonance spectroscopy ((1)H-MRS), we measured chemical metabolites in the left amygdala and the bilateral orbito-frontal cortex (OFC) in children with autism spectrum disorders (ASD). The concentrations of N-acetylaspartate (NAA) in these regions of ASD were significantly decreased compared to those in the control group. In the autistic patients, the NAA concentrations in these regions correlated with their social quotient. These findings suggest the presence of neuronal dysfunction in the amygdala and OFC in ASD. Dysfunction in the amygdala and OFC may contribute to the pathogenesis of ASD. We performed a near-infrared spectroscopy (NIRS) study to evaluate the mirror neuron system in children with ASD. The concentrations of oxygenated hemoglobin (oxy-Hb) were measured with frontal probes using a 34-channel NIRS machine while the subjects imitated emotional facial expressions. The increments in the concentration of oxy-Hb in the pars opercularis of the inferior frontal gyrus in autistic subjects were significantly lower than those in the controls. However, the concentrations of oxy-Hb in this area were significantly elevated in autistic subjects after they were trained to imitate emotional facial expressions. The results suggest that mirror neurons could be activated by repeated imitation in children with ASD.","ja":"Using proton magnetic resonance spectroscopy ((1)H-MRS), we measured chemical metabolites in the left amygdala and the bilateral orbito-frontal cortex (OFC) in children with autism spectrum disorders (ASD). The concentrations of N-acetylaspartate (NAA) in these regions of ASD were significantly decreased compared to those in the control group. In the autistic patients, the NAA concentrations in these regions correlated with their social quotient. These findings suggest the presence of neuronal dysfunction in the amygdala and OFC in ASD. Dysfunction in the amygdala and OFC may contribute to the pathogenesis of ASD. We performed a near-infrared spectroscopy (NIRS) study to evaluate the mirror neuron system in children with ASD. The concentrations of oxygenated hemoglobin (oxy-Hb) were measured with frontal probes using a 34-channel NIRS machine while the subjects imitated emotional facial expressions. The increments in the concentration of oxy-Hb in the pars opercularis of the inferior frontal gyrus in autistic subjects were significantly lower than those in the controls. However, the concentrations of oxy-Hb in this area were significantly elevated in autistic subjects after they were trained to imitate emotional facial expressions. The results suggest that mirror neurons could be activated by repeated imitation in children with ASD."},"publication_date":"2015-02","publication_name":{"en":"The Journal of Medical Investigation : JMI","ja":"The Journal of Medical Investigation : JMI"},"volume":"Vol.62","number":"No.1-2","starting_page":"29","ending_page":"36","languages":["eng"],"referee":true,"identifiers":{"doi":["10.2152/jmi.62.29"],"issn":["1349-6867"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114870","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/24056155","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84892723051&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298028","label":"url"}],"paper_title":{"en":"Age-related changes in a patient with Pelizaeus-Merzbacher disease determined by repeated 1H-magnetic resonance spectroscopy.","ja":"Age-related changes in a patient with Pelizaeus-Merzbacher disease determined by repeated 1H-magnetic resonance spectroscopy."},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"Mori Kenji"},{"name":"Ito Hiromichi"},{"name":"Goji Aya"},{"name":"Miyazaki Masahito"},{"name":"Harada Masafumi"},{"name":"Kurosawa Kenji"},{"name":"Kagami Shoji"}],"ja":[{"name":"森 達夫"},{"name":"森 健治"},{"name":"伊藤 弘道"},{"name":"Goji Aya"},{"name":"Miyazaki Masahito"},{"name":"原田 雅史"},{"name":"Kurosawa Kenji"},{"name":"香美 祥二"}]},"description":{"en":"A boy with Pelizaeus-Merzbacher disease underwent repeated evaluations by 3-Tesla (1)H-magnetic resonance spectroscopy (MRS). The patient showed overlap of the PLP1. Individuals selected as normal controls for (1)H-magnetic resonance spectroscopy consisted of healthy age-matched children. For (1)H-magnetic resonance spectroscopy, the center of a voxel was positioned in the right parietal lobe. (1)H-magnetic resonance spectroscopy was performed when the patient was 2, 6, 14, and 25 months old. γ-Aminobutyric acid concentration in early childhood was increased compared with that in normal controls. However, the γ-aminobutyric acid concentration in the Pelizaeus-Merzbacher disease patient was normalized at 14 and 25 months. No remarkable changes were observed in choline-containing compounds concentration at any time. These results suggest that the changes in metabolite concentrations during growth can reflect the pathological condition of Pelizaeus-Merzbacher disease. Furthermore, the lack of change in the choline-containing compounds concentration can be useful for differentiating Pelizaeus-Merzbacher disease from other white matter disorders.","ja":"A boy with Pelizaeus-Merzbacher disease underwent repeated evaluations by 3-Tesla (1)H-magnetic resonance spectroscopy (MRS). The patient showed overlap of the PLP1. Individuals selected as normal controls for (1)H-magnetic resonance spectroscopy consisted of healthy age-matched children. For (1)H-magnetic resonance spectroscopy, the center of a voxel was positioned in the right parietal lobe. (1)H-magnetic resonance spectroscopy was performed when the patient was 2, 6, 14, and 25 months old. γ-Aminobutyric acid concentration in early childhood was increased compared with that in normal controls. However, the γ-aminobutyric acid concentration in the Pelizaeus-Merzbacher disease patient was normalized at 14 and 25 months. No remarkable changes were observed in choline-containing compounds concentration at any time. These results suggest that the changes in metabolite concentrations during growth can reflect the pathological condition of Pelizaeus-Merzbacher disease. Furthermore, the lack of change in the choline-containing compounds concentration can be useful for differentiating Pelizaeus-Merzbacher disease from other white matter disorders."},"publication_date":"2014-02","publication_name":{"en":"Journal of Child Neurology","ja":"Journal of Child Neurology"},"volume":"Vol.29","number":"No.2","starting_page":"283","ending_page":"288","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1177/0883073813499635"],"issn":["1708-8283"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"http://ci.nii.ac.jp/naid/130004728676/","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25154225","label":"url"},{"@id":"https://cir.nii.ac.jp/crid/1390001205518257920/","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84904503404&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298168","label":"url"}],"paper_title":{"en":"Hemodynamic activities in children with autism while imitating emotional facial expressions: a near-infrared spectroscopy study","ja":"自閉症における表情模倣時の脳血流変化 -NIRSによる検討-"},"authors":{"en":[{"name":"Mori Kenji"},{"name":"Mori Tatsuo"},{"name":"郷司 彩"},{"name":"Ito Hiromichi"},{"name":"Touda Yoshihiro"},{"name":"Fujii Emiko"},{"name":"宮崎 雅仁"},{"name":"Harada Masafumi"},{"name":"Kagami Shoji"}],"ja":[{"name":"森 健治"},{"name":"森 達夫"},{"name":"郷司 彩"},{"name":"伊藤 弘道"},{"name":"東田 好広"},{"name":"藤井 笑子"},{"name":"宮崎 雅仁"},{"name":"原田 雅史"},{"name":"香美 祥二"}]},"description":{"en":"Objective: To examine the hemodynamic activities in the frontal lobe, children with autistic disorder and matched controls underwent near-infrared spectroscopy (NIRS) while imitating emotional facial expressions. Methods: The subjects consisted of 10 boys with autistic disorder without mental retardation (9∼14 years) and 10 normally developing boys (9∼14 years). The concentrations of oxyhemoglobin (oxy-Hb) were measured with frontal probes using a 34-channel NIRS machine while the subjects imitated emotional facial expressions. Results: The increments in the concentration of oxy-Hb in the pars opercularis of the inferior frontal gyrus in autistic subjects were significantly lower than those in the controls. However, the concentrations of oxy-Hb in this area were significantly elevated in autistic subjects after they were trained to imitate emotional facial expressions. The increments in the concentration of oxy-Hb in this area in autistic subjects were positively correlated with the scores on a test of labeling emotional facial expressions. Conclusions: The pars opercularis of the inferior frontal gyrus is an important component of the mirror neuron system. The present results suggest that mirror neurons could be activated by repeated imitation in children with autistic disorder.","ja":"【目的】近赤外線スペクトロスコピー (NIRS) を用い, 顔表情の模倣課題を施行中の前頭葉活動について, 自閉症と定型発達の小児例で比較検討する. 【方法】対象は定型発達の男児10例, 知的障害を有さない自閉性障害の男児10例. NIRS測定のため左右前頭部にそれぞれ17チャンネルのプローブを装着した. 【結果】自閉症群において初回検査時, 両側下前頭回弁蓋部 (Broca野) での酸素化ヘモグロビン (oxy-Hb) 濃度の上昇は, 定型発達児に比べ有意に低かったが, 同じ課題を複数回練習してから, 再度, NIRSを施行したところ, 同部でoxy-Hb濃度の有意な上昇が認められた. 自閉症群におけるoxy-Hb濃度の変化量と感情ラベリング成績の間には正の相関関係が認められた. 【結論】自閉症においても模倣運動を繰り返すことによりミラーニューロンを賦活できる可能性が示唆された."},"publication_date":"2014","publication_name":{"en":"No to Hattatsu","ja":"脳と発達"},"volume":"Vol.46","number":"No.4","starting_page":"281","ending_page":"286","languages":["jpn"],"referee":true,"identifiers":{"doi":["10.11251/ojjscn.46.281"],"issn":["0029-0831"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114873","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22840813","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84875894491&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=280470","label":"url"}],"paper_title":{"en":"Effective treatment of a 13-year-old boy with steroid-dependent ocular myasthenia gravis using tacrolimus","ja":"Effective treatment of a 13-year-old boy with steroid-dependent ocular myasthenia gravis using tacrolimus"},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"Mori Kenji"},{"name":"Suzue Masashi"},{"name":"Ito Hiromichi"},{"name":"Kagami Shoji"}],"ja":[{"name":"森 達夫"},{"name":"森 健治"},{"name":"Suzue Masashi"},{"name":"伊藤 弘道"},{"name":"香美 祥二"}]},"description":{"en":"Over the past several years, tacrolimus has attracted attention as a new therapeutic drug for myasthenia gravis (MG), but few reports have considered its use for MG in pediatric patients, and most of these have focused on severe systemic MG. In this case report, we used tacrolimus to successfully treat a 13-year-old boy with ocular MG who had suffered from severe steroid complications, including a failure of thrive and osteoporosis. He first showed symptoms of ocular MG at age 2 years 3 months. At age 13 years, he was receiving PSL (3.75 mg/day), but the symptoms of ocular MG recurred. We increased the dosage of oral PSL up to 30 mg/day, and three courses of mPSL pulse therapy were applied, but these therapies had only limited effect, and his symptoms worsened. Tacrolimus was started at 0.4 mg/day (0.011 mg/kg/day), and every 2 weeks the dose was gradually increased by 0.2 mg/day. His symptoms of MG began to improve 3 weeks after the initial administration of tacrolimus. Approximately 3 months after the start of tacrolimus administration, PSL was discontinued. Currently, at 1 year and 4 months after the start of tacrolimus administration, while slight ptosis is observed in the evening, it does not influence his daily life, and his condition remains comparable to that when he stopped taking PSL. No adverse effects of tacrolimus have been recognized. In pediatric patients with steroid-dependent ocular MG without thymectomy, tacrolimus may be a safe and effective alternative to steroid and thymectomy.","ja":"Over the past several years, tacrolimus has attracted attention as a new therapeutic drug for myasthenia gravis (MG), but few reports have considered its use for MG in pediatric patients, and most of these have focused on severe systemic MG. In this case report, we used tacrolimus to successfully treat a 13-year-old boy with ocular MG who had suffered from severe steroid complications, including a failure of thrive and osteoporosis. He first showed symptoms of ocular MG at age 2 years 3 months. At age 13 years, he was receiving PSL (3.75 mg/day), but the symptoms of ocular MG recurred. We increased the dosage of oral PSL up to 30 mg/day, and three courses of mPSL pulse therapy were applied, but these therapies had only limited effect, and his symptoms worsened. Tacrolimus was started at 0.4 mg/day (0.011 mg/kg/day), and every 2 weeks the dose was gradually increased by 0.2 mg/day. His symptoms of MG began to improve 3 weeks after the initial administration of tacrolimus. Approximately 3 months after the start of tacrolimus administration, PSL was discontinued. Currently, at 1 year and 4 months after the start of tacrolimus administration, while slight ptosis is observed in the evening, it does not influence his daily life, and his condition remains comparable to that when he stopped taking PSL. No adverse effects of tacrolimus have been recognized. In pediatric patients with steroid-dependent ocular MG without thymectomy, tacrolimus may be a safe and effective alternative to steroid and thymectomy."},"publication_date":"2013-05","publication_name":{"en":"Brain & Development","ja":"Brain & Development"},"volume":"Vol.35","number":"No.5","starting_page":"445","ending_page":"448","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.braindev.2012.06.012"],"issn":["1872-7131"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114872","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22099869","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84864781015&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=296640","label":"url"}],"paper_title":{"en":"Evaluation of the GABAergic nervous system in autistic brain: (123)I-iomazenil SPECT study.","ja":"Evaluation of the GABAergic nervous system in autistic brain: (123)I-iomazenil SPECT study."},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"Mori Kenji"},{"name":"Fujii Emiko"},{"name":"Touda Yoshihiro"},{"name":"Miyazaki Masahito"},{"name":"Harada Masafumi"},{"name":"Hashimoto Toshiaki"},{"name":"Kagami Shoji"}],"ja":[{"name":"森 達夫"},{"name":"森 健治"},{"name":"藤井 笑子"},{"name":"東田 好広"},{"name":"Miyazaki Masahito"},{"name":"原田 雅史"},{"name":"橋本 俊顕"},{"name":"香美 祥二"}]},"description":{"en":"To evaluate the GABA(A) receptor in the autistic brain, we performed (123)I-IMZ SPECT in patients with ASD. We compared (123)I-IMZ SPECT abnormalities in patients who showed intellectual disturbance or focal epileptic discharge on EEG to those in patients without such findings. The subjects consisted of 24 patients with ASD (mean age, 7.3±3.5 years), including 9 with autistic disorder (mean age, 7.0±3.7 years) and 15 with Asperger's disorder (mean age, 7.5±3.2 years). We used 10 non-symptomatic partial epilepsy patients (mean age, 7.8±3.6 years) without intellectual delay as a control group. For an objective evaluation of the (123)I-IMZ SPECT results, we performed an SEE (Stereotactic Extraction Estimation) analysis to describe the decrease in accumulation in each brain lobule numerically. In the comparison of the ASD group and the control group, there was a dramatic decrease in the accumulation of (123)I-IMZ in the superior and medial frontal cortex. In the group with intellectual impairment and focal epileptic discharge on EEG, the decrease in accumulation in the superior and medial frontal cortex was greater than that in the group without these findings. The present results suggest that disturbance of the GABAergic nervous system may contribute to the pathophysiology and aggravation of ASD, since the accumulation of (123)I-IMZ was decreased in the superior and medial frontal cortex, which is considered to be associated with inference of the thoughts, feelings, and intentions of others (Theory of Mind).","ja":"To evaluate the GABA(A) receptor in the autistic brain, we performed (123)I-IMZ SPECT in patients with ASD. We compared (123)I-IMZ SPECT abnormalities in patients who showed intellectual disturbance or focal epileptic discharge on EEG to those in patients without such findings. The subjects consisted of 24 patients with ASD (mean age, 7.3±3.5 years), including 9 with autistic disorder (mean age, 7.0±3.7 years) and 15 with Asperger's disorder (mean age, 7.5±3.2 years). We used 10 non-symptomatic partial epilepsy patients (mean age, 7.8±3.6 years) without intellectual delay as a control group. For an objective evaluation of the (123)I-IMZ SPECT results, we performed an SEE (Stereotactic Extraction Estimation) analysis to describe the decrease in accumulation in each brain lobule numerically. In the comparison of the ASD group and the control group, there was a dramatic decrease in the accumulation of (123)I-IMZ in the superior and medial frontal cortex. In the group with intellectual impairment and focal epileptic discharge on EEG, the decrease in accumulation in the superior and medial frontal cortex was greater than that in the group without these findings. The present results suggest that disturbance of the GABAergic nervous system may contribute to the pathophysiology and aggravation of ASD, since the accumulation of (123)I-IMZ was decreased in the superior and medial frontal cortex, which is considered to be associated with inference of the thoughts, feelings, and intentions of others (Theory of Mind)."},"publication_date":"2012-09","publication_name":{"en":"Brain & Development","ja":"Brain & Development"},"volume":"Vol.34","number":"No.8","starting_page":"648","ending_page":"654","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1016/j.braindev.2011.10.007"],"issn":["1872-7131"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://repo.lib.tokushima-u.ac.jp/ja/114871","label":"url"},{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/22131192","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-83655165118&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=296641","label":"url"}],"paper_title":{"en":"Neuroradiological and neurofunctional examinations for patients with 22q11.2 deletion.","ja":"Neuroradiological and neurofunctional examinations for patients with 22q11.2 deletion."},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"Mori Kenji"},{"name":"Fujii Emiko"},{"name":"Touda Yoshihiro"},{"name":"Miyazaki Masahito"},{"name":"Harada Masafumi"},{"name":"Kagami Shoji"}],"ja":[{"name":"森 達夫"},{"name":"森 健治"},{"name":"藤井 笑子"},{"name":"東田 好広"},{"name":"Miyazaki Masahito"},{"name":"原田 雅史"},{"name":"香美 祥二"}]},"description":{"en":"Since the neuroradiological features of patients with 22q11.2 deletion syndrome are not well-understood, examinations using functional imaging were performed in this study. Brain magnetic resonance imaging (MRI) and 1H-magnetic resonance spectroscopy (MRS) were performed using a clinical 3-Tesla MR imager in 4 patients with 22q11.2 deletion syndrome (2 boys and 2 girls; aged 2-6 years.) and 20 age- and sex-matched healthy control subjects. Furthermore, interictal 123I-iomazenil (IMZ) single photon emission computed tomography (SPECT) was examined in 2 of the 4 patients. Among the 4 patients with 22q11.2 deletion syndrome, 2 patients showed polymicrogyria and 1 patient showed agyria. Those patients with brain malformations also showed abnormal brain artery patterns and decreased accumulation of IMZ in 123I-IMZ SPECT. Although all 4 patients showed epileptic discharges in their electroencephalograms (EEG), one patient with polymicrogyria had no seizure episodes. Decreases in γ-aminobutyric acid (GABA) corresponding to the areas of polymicrogyria and/or epileptic discharges in EEG were shown in all patients except for the patient with agyria. Although consistent evidence was not seen in patients with 22q11.2 deletion syndrome in this study, brain malformations and disturbances of the GABAergic nervous system would be underlying mechanisms of the neurodevelopmental abnormalities in this syndrome.","ja":"Since the neuroradiological features of patients with 22q11.2 deletion syndrome are not well-understood, examinations using functional imaging were performed in this study. Brain magnetic resonance imaging (MRI) and 1H-magnetic resonance spectroscopy (MRS) were performed using a clinical 3-Tesla MR imager in 4 patients with 22q11.2 deletion syndrome (2 boys and 2 girls; aged 2-6 years.) and 20 age- and sex-matched healthy control subjects. Furthermore, interictal 123I-iomazenil (IMZ) single photon emission computed tomography (SPECT) was examined in 2 of the 4 patients. Among the 4 patients with 22q11.2 deletion syndrome, 2 patients showed polymicrogyria and 1 patient showed agyria. Those patients with brain malformations also showed abnormal brain artery patterns and decreased accumulation of IMZ in 123I-IMZ SPECT. Although all 4 patients showed epileptic discharges in their electroencephalograms (EEG), one patient with polymicrogyria had no seizure episodes. Decreases in γ-aminobutyric acid (GABA) corresponding to the areas of polymicrogyria and/or epileptic discharges in EEG were shown in all patients except for the patient with agyria. Although consistent evidence was not seen in patients with 22q11.2 deletion syndrome in this study, brain malformations and disturbances of the GABAergic nervous system would be underlying mechanisms of the neurodevelopmental abnormalities in this syndrome."},"publication_date":"2011-12","publication_name":{"en":"Neuropediatrics","ja":"Neuropediatrics"},"volume":"Vol.42","number":"No.6","starting_page":"215","ending_page":"221","languages":["eng"],"referee":true,"identifiers":{"doi":["10.1055/s-0031-1295479"],"issn":["1439-1899"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1520572359367385088/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=296638","label":"url"}],"paper_title":{"en":"A Case of Focal Cortical Dysplasia Developing into Pharmacoresistant Epilepsy on Postnatal Day 9","ja":"日齢9に難治性痙攣発作にて発症した限局性皮質異形成の1例"},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"SEKIGUCHI Takanori"},{"name":"OKAMURA Kazumi"},{"name":"SHIMIZU Maki"},{"name":"TAKAHASHI Tomoko"},{"name":"KOUZAN Hiroko"},{"name":"SAKAGUCHI Zenichi"},{"name":"OHARA Katsuaki"}],"ja":[{"name":"森 達夫"},{"name":"関口 隆憲"},{"name":"岡村 和美"},{"name":"清水 真樹"},{"name":"高橋 朋子"},{"name":"幸山 洋子"},{"name":"坂口 善市"},{"name":"大原 克明"}]},"publication_date":"2010-09-01","publication_name":{"en":"The Journal of the Japan Pediatric Society","ja":"日本小児科学会雑誌"},"volume":"Vol.114","number":"No.9","starting_page":"1436","ending_page":"1441","languages":["jpn"],"referee":true,"identifiers":{"issn":["0001-6543"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1520009407405635072/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=296637","label":"url"}],"paper_title":{"en":"Cerebral Infarction Occurring Four Months after Contraction of Varicella","ja":"水痘罹患4か月後に脳梗塞をきたした1例"},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"SEKIGUCHI Takanori"},{"name":"OKAMURA Kazumi"},{"name":"SHIMIZU Maki"},{"name":"TAKAHASHI Tomoko"},{"name":"KOUZAN Hiroko"},{"name":"SAKAGUCHI Zenichi"},{"name":"OHARA Katsuaki"}],"ja":[{"name":"森 達夫"},{"name":"関口 隆憲"},{"name":"岡村 和美"},{"name":"清水 真樹"},{"name":"高橋 朋子"},{"name":"幸山 洋子"},{"name":"坂口 善市"},{"name":"大原 克明"}]},"publication_date":"2010-03-01","publication_name":{"en":"The Journal of the Japan Pediatric Society","ja":"日本小児科学会雑誌"},"volume":"Vol.114","number":"No.3","starting_page":"510","ending_page":"514","languages":["jpn"],"referee":true,"identifiers":{"issn":["0001-6543"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://cir.nii.ac.jp/crid/1523669554611294208/","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=296642","label":"url"}],"paper_title":{"en":"A case of disseminated neonatal herpes simplex virus infection","ja":"臨床研究・症例報告 全身型新生児単純ヘルペスウイルス感染症の1例"},"authors":{"en":[{"name":"Mori Tatsuo"},{"name":"関口 隆憲"},{"name":"Okamura Kazumi"}],"ja":[{"name":"森 達夫"},{"name":"関口 隆憲"},{"name":"岡村 和美"}]},"publication_date":"2009-10","publication_name":{"en":"Japanese Journal of Pediatrics","ja":"小児科臨床"},"volume":"Vol.62","number":"No.10","starting_page":"2233","ending_page":"2238","languages":["jpn"],"referee":true,"identifiers":{"issn":["0021-518X"]},"published_paper_type":"scientific_journal"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=360027","label":"url"}],"paper_title":{"en":"口腔筋機能療法の可能性と展望","ja":"口腔筋機能療法の可能性と展望"},"authors":{"en":[{"name":"Sugimoto Asuna"},{"name":"河原林 啓太"},{"name":"Touda Yoshihiro"},{"name":"Mori Tatsuo"},{"name":"Gohji Aya"},{"name":"Kagami Shoji"},{"name":"Iwamoto Tsutomu"}],"ja":[{"name":"杉本 明日菜"},{"name":"河原林 啓太"},{"name":"東田 好広"},{"name":"森 達夫"},{"name":"郷司 彩"},{"name":"香美 祥二"},{"name":"岩本 勉"}]},"publication_date":"2019-09-08","publication_name":{"en":"小児保健とくしま","ja":"小児保健とくしま"},"volume":"Vol.27","number":"No.1","starting_page":"23","ending_page":"26","languages":["jpn"],"published_paper_type":"research_institution"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/29341476","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-85042076423&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=354319","label":"url"}],"paper_title":{"en":"A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation","ja":"A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation"},"authors":{"en":[{"name":"Tokaji Narumi"},{"name":"Ito Hiromichi"},{"name":"Kohmoto Tomohiro"},{"name":"Naruto Takuya"},{"name":"Takahashi Rizu"},{"name":"Gohji Aya"},{"name":"Mori Tatsuo"},{"name":"Touda Yoshihiro"},{"name":"Saito Masako"},{"name":"Tange Shoichiro"},{"name":"Masuda Kiyoshi"},{"name":"Kagami Shoji"},{"name":"Imoto Issei"}],"ja":[{"name":"戸梶 成美"},{"name":"伊藤 弘道"},{"name":"Kohmoto Tomohiro"},{"name":"Naruto Takuya"},{"name":"Takahashi Rizu"},{"name":"郷司 彩"},{"name":"森 達夫"},{"name":"東田 好広"},{"name":"Saito Masako"},{"name":"丹下 正一朗"},{"name":"Masuda Kiyoshi"},{"name":"香美 祥二"},{"name":"Imoto Issei"}]},"description":{"en":"Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss-of-function mutations that affect the coding sequence of exon 3 or 4 of methyl-CpG-binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported. This is the first reported case of a male with classic RTT caused by a 5-bp duplication in the open-reading frame of MECP2 exon 1 (NM_001110792.1:c.23_27dup) that introduced a premature stop codon [p.(Ser10Argfs*36)] in the MeCP2_e1 isoform, which has been reported in one female patient with classic RTT. Therefore, both males and females displaying at least some type of MeCP2_e1 mutation may exhibit the classic RTT phenotype.","ja":"Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss-of-function mutations that affect the coding sequence of exon 3 or 4 of methyl-CpG-binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported. This is the first reported case of a male with classic RTT caused by a 5-bp duplication in the open-reading frame of MECP2 exon 1 (NM_001110792.1:c.23_27dup) that introduced a premature stop codon [p.(Ser10Argfs*36)] in the MeCP2_e1 isoform, which has been reported in one female patient with classic RTT. Therefore, both males and females displaying at least some type of MeCP2_e1 mutation may exhibit the classic RTT phenotype."},"publication_date":"2018-01-17","publication_name":{"en":"American Journal of Medical Genetics. Part A.","ja":"American Journal of Medical Genetics. Part A."},"volume":"Vol.176A","number":"No.3","starting_page":"699","ending_page":"702","languages":["eng"],"identifiers":{"doi":["10.1002/ajmg.a.38595"],"issn":["1552-4833"]},"published_paper_type":"research_institution"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=355748","label":"url"}],"paper_title":{"en":"脳科学から読み解く発達障害","ja":"脳科学から読み解く発達障害"},"authors":{"en":[{"name":"Mori Kenji"},{"name":"森 慶子"},{"name":"Furukawa Kaoru"},{"name":"Takahashi Kumi"},{"name":"Hashimoto Hiroko"},{"name":"Ito Hiromichi"},{"name":"Gohji Aya"},{"name":"Mori Tatsuo"},{"name":"Touda Yoshihiro"},{"name":"Kagami Shoji"}],"ja":[{"name":"森 健治"},{"name":"森 慶子"},{"name":"古川 薫"},{"name":"髙橋 久美"},{"name":"橋本 浩子"},{"name":"伊藤 弘道"},{"name":"郷司 彩"},{"name":"森 達夫"},{"name":"東田 好広"},{"name":"香美 祥二"}]},"publication_date":"2018","publication_name":{"en":"小児保健とくしま","ja":"小児保健とくしま"},"volume":"Vol.26","starting_page":"10","ending_page":"18","languages":["jpn"],"published_paper_type":"research_institution"}}
{"insert":{"type":"published_papers"},"force":{"see_also":[{"@id":"https://www.ncbi.nlm.nih.gov/pubmed/25336002","label":"url"},{"@id":"https://www.scopus.com/record/display.url?eid=2-s2.0-84939224466&origin=inward","label":"url"},{"@id":"https://web.db.tokushima-u.ac.jp/cgi-bin/edb_browse?EID=298027","label":"url"}],"paper_title":{"en":"Case of early childhood-onset narcolepsy with cataplexy: comparison with a monozygotic co-twin.","ja":"Case of early childhood-onset narcolepsy with cataplexy: comparison with a monozygotic co-twin."},"authors":{"en":[{"name":"Ito Hiromichi"},{"name":"Mori Kenji"},{"name":"Mori Tatsuo"},{"name":"Goji A"},{"name":"Kagami Shoji"}],"ja":[{"name":"伊藤 弘道"},{"name":"森 健治"},{"name":"森 達夫"},{"name":"Goji A"},{"name":"香美 祥二"}]},"description":{"en":"We describe here a rare case of early childhood-onset (5 years of age) narcolepsy. This case was interesting because of the ability to compare the patient's symptoms to the condition of her healthy monozygotic co-twin sister. The only environmental difference between the co-twins was head injury, which may be associated with the presence of narcolepsy. The co-twin was extroverted, sociable, reliable, and dexterous. In contrast, the patient could be described as introverted, gentle, honest and persevering, but was weak at conversation, assessment of a situation, memory, planning, activity (she was inactive), a sense of time, understanding of an analog clock, operating efficiency, and physical education (due to obesity). The sisters showed the same degree of appetite and dexterity with their fingers. Narcolepsy is often under-recognized or underdiagnosed, especially when the onset occurs in childhood. When we observe preschoolers with excessive daytime sleepiness, we should consider the possibility of narcolepsy with cataplexy.","ja":"We describe here a rare case of early childhood-onset (5 years of age) narcolepsy. This case was interesting because of the ability to compare the patient's symptoms to the condition of her healthy monozygotic co-twin sister. The only environmental difference between the co-twins was head injury, which may be associated with the presence of narcolepsy. The co-twin was extroverted, sociable, reliable, and dexterous. In contrast, the patient could be described as introverted, gentle, honest and persevering, but was weak at conversation, assessment of a situation, memory, planning, activity (she was inactive), a sense of time, understanding of an analog clock, operating efficiency, and physical education (due to obesity). The sisters showed the same degree of appetite and dexterity with their fingers. Narcolepsy is often under-recognized or underdiagnosed, especially when the onset occurs in childhood. When we observe preschoolers with excessive daytime sleepiness, we should consider the possibility of narcolepsy with cataplexy."},"publication_date":"2014-10","publication_name":{"en":"Pediatrics International","ja":"Pediatrics International"},"volume":"Vol.56","number":"No.5","starting_page":"789","ending_page":"793","languages":["eng"],"identifiers":{"doi":["10.1111/ped.12377"],"issn":["1442-200X"]},"published_paper_type":"research_institution"}}