研究者詳細 - 佐野　輝

論文 - 佐野　輝

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Benninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I . Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation . Epilepsia57 549 - 556 2016年4月査読国際共著

Sakimoto H, Nakamura M, Nagata O, Yokoyama I, Sano A . Phenotypic abnormalities in a chorea-acanthocytosis mouse model are modulated by strain background . Biochem Biophys Res Commun472 118 - 124 2016年3月査読

記述言語：英語掲載種別：研究論文（学術雑誌）

Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis that is caused by mutations in the VPS13A gene. We previously produced a ChAc model mice encoding a human disease mutation with deletion of exons 60-61 in the VPS13A gene. The behavioral and pathological phenotypes of the model mice varied a good deal from individual to individual, indicating that differences between individuals may be caused by the content of a genetic hybrid 129/Sv and C57BL/6J strain background. To establish the effect of the genetic background on phenotype, we backcrossed the ChAc-model mice to different inbred strains: C57BL/6J and 129S6/Sv. Although no significant difference between ChAc-mutant mice and wild-type mice on the C57BL/6J background was observed, the ChAc-mutant mice on the 129S6/Sv showed abnormal motor function and behavior. Furthermore, we produced ChAc-mutant mice on two different inbred strains: BALB/c and FVB. Significant reduction in weight was observed in ChAc mutant mice on the FVB and 129S6 backgrounds. We found a marked increase in the osmotic fragility of red blood cells in the ChAc mutant mice backcrossed to 129S6/Sv and FVB. The phenotypes varied according to strain, with ChAc mutant mice on the FVB and 129S6 backgrounds showing remarkably abnormal motor function and behavior. These results indicate that there are modifying genetic factors of ChAc symptoms.

佐野輝 . 【精神科専門医制度に望むこと】大学病院の立場から . 精神科28 ( 1 ) 78 - 80 2016年1月招待

Narumi1 S, Natori T, MiyazawaH, Kato T, Yonezawa H, Nishino I, Nakamura M, Sano A and Terayama Y . A case of McLeod syndrome with novel genetic mutation . Neurology and Clinical Neuroscience4 115 - 117 2016年査読

Sakiyama Y, Kanda N, Higuchi Y, Yoshimura M, Wakaguri H, Takata Y, Watanabe O, Yuan J, Tashiro Y, Saigo R, Nozuma S, Yoshimura A, Arishima S, Ikeda K, Shinohara K, Arata H, Michizono K, Higashi K, Hashiguchi A, Okamoto Y, Hirano R, Shiraishi T, Matsuura E, Okubo R, Higuchi I, Goto M, Hirano H, Sano A, Iwasaki T, Matsuda F, Izumo S, Takashima H . New type of encephalomyelitis responsive to trimethoprim/sulfamethoxazole treatment in Japan . Neurol Neuroimmunol Neuroinflamm 2015年8月査読

記述言語：英語掲載種別：研究論文（学術雑誌）

Objective:

To determine the causative pathogen and investigate the effective treatment of a new type of encephalomyelitis with an unknown pathogen in Japan and report the preliminary ultrastructural and genomic characterization of the causative agent.

Methods:

From 2005 to 2012, we treated 4 Japanese patients with geographic clustering and comparable clinical features, serum/CSF cytology, and radiologic findings. Brain biopsy was conducted in all patients to analyze neuropathologic changes by histology, and electron microscopy was applied to reveal the features of the putative pathogen. Genomic DNA was obtained from the affected brain tissues and CSF, and an unbiased high-throughput sequencing approach was used to screen for specific genomic sequences indicative of the pathogen origin.

Results:

All patients exhibited progressive dementia with involuntary tongue movements. Cytologic examination of CSF revealed elevated mononuclear cells. Abnormal MRI signals were observed in temporal lobes, subcortical white matter, and spinal cord. Biopsied brain tissue exhibited aggregated periodic acid-Schiff–positive macrophages and 2–7 μm diameter round/oval bodies without nuclei or cell walls scattered around the vessels. Unbiased high-throughput sequencing identified more than 100 archaea-specific DNA fragments. All patients were responsive to trimethoprim/sulfamethoxazole (TMP-SMX) plus corticosteroid therapy.

Conclusions:

We report 4 cases of encephalomyelitis due to an unknown pathogen. On the basis of ultrastructural and genomic studies, we propose a new disease entity resulting from a causative pathogen having archaeal features. TMP-SMX therapy was effective against this new type of encephalomyelitis.

DOI： 10.1212/NXI.0000000000000143

PubMed

石塚貴周, 中村雅之, 崎元仁志, 瀬戸下玄郎, 春日井基文, 佐野輝 . 認知症症状を呈した高齢初発てんかん4例 . 精神科25 ( 5 ) 555 - 560 2014年11月査読

担当区分：最終著者記述言語：日本語掲載種別：研究論文（学術雑誌）

認知症との鑑別を要した高齢初発てんかん4例について報告した。症例は症例1(69歳女性)、症例2(65歳女性)、症例3(60歳男性)、症例4(62歳女性)であった。全例共通の症状として、旅行や孫の運動会のエピソードごと忘れている等の記憶障害を認め、さらに意欲低下や易怒性亢進等の精神症状を伴っていた。脳波では左側頭部に焦点のある突発波が確認された。症例3は安静覚醒時脳波では明らかな突発波は確認できず、終夜睡眠脳波にのみ確認された。抗てんかん薬の治療により、全例症状の改善を認めた。高齢初発てんかんの頻度は高く、明らかなてんかん発作様式をとらない、持続性の記憶障害や日常生活能力低下を呈する例が少なからずあることが指摘できた。けいれん発作を伴わず、記憶が挿間性にエピソードごと抜けている等の経過や発作的な記憶障害が疑われる症例については、高齢初発てんかんを念頭に置き、安静覚醒時脳波で突発波がなくても睡眠脳波まで確認する必要が示唆された。

高取由紀子, 鮫島稔弥, 兒玉晃子, 児玉圭, 楠本朗, 春日井基文, 赤崎安昭, 佐野輝 . 精神疾患患者における身体的治療の同意についての問題提起　特徴的な4症例を通して . 総合病院精神医学26 ( 4 ) 397 - 403 2014年10月査読

春日井基文、福田恭哉、竹之内薫、山畑良蔵、赤崎安昭、佐野輝 . 医療観察法入院処遇対象者の身体合併症に対する総合病院精神科における治療構造設定と問題点． . 臨床精神医学43 ( 9 ) 1269 - 1272 2014年9月査読

Shiokawa N, Nakamura M, Sameshima M, Deguchi A, Hayashi T, Sasaki N, Sano A . Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin. . Biochem Biophys Res Commun 441, 96-101, 2013441 ( 1 ) 96 - 101 2013年11月査読

楠本朗、児玉圭、吉田巌、赤崎安昭、森岡洋史、佐野輝 . 職場不適応事例に対する治療的アプローチ . 臨床精神医学42 ( 10 ) 1231 - 1237 2013年10月査読

楠本朗、赤崎安昭、赤崎安隆、井料学、福迫剛、宇多英典、冨永秀文、川元孝久、西俣寿人、佐野輝 . メンタルヘルス健診の問題点について－鹿児島県における労働者のメンタルヘルスの取り組みを通して－ . 臨床精神医学 42, 1193-1199, 201342 ( 10 ) 1193 - 1199 2013年10月査読

Sangatsuda Y, Nakamura M, Tomiyasu A, Deguchi A, Toyota Y, Goto YI, Nishino I, Ueno SI, Sano A . Heteroplasmic m.1624C>T mutation of the mitochondrial tRNA(Val) gene in a proband and his mother with repeated consciousness disturbances. . Mitochondrion12 ( 6 ) 617 - 622 2012年11月査読

Ishizuka T, Nakamura M, Ichiba M, Fujita S, Takeuchi K, Fujimoto T, and Sano A . Different clinical phenotypes in siblings with a presenilin-1 P264L mutation. . Dement Geriatr Cogn Disord33 ( 42038 ) 132 - 140 2012年5月査読

Hayashi T, Kishida M, Nishizawa Y, Iijima M, Koriyama C, Nakamura M, Sano A, and Kishida S . Subcellular localization and putative role of VPS13A/chorein in dopaminergic neuronal cells. . Biochem Biophys Res Commun419 ( 3 ) 511 - 516 2012年2月査読

Deguchi A, Nakamura M, Hayashi T, and Sano A . Quetiapine-induced frequent premature ventricular contraction. . Gen Hosp Psychiatry34 ( 2 ) 2110 - 211000 2012年1月査読

松田三恵子、富永雅孝、児玉圭、小玉哲史、中村雅之、赤崎安昭、佐野輝 . 小脳橋角部腫瘍に伴い強迫症状の出現・消退を認めた症例 . 精神科19 ( 5 ) 521 - 525 2011年11月査読

Mori S, Nakamura M, Yasuda T, Ueno SI, Kaneko S, Sano A . Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree . J Hum Genet56 ( 10 ) 742 - 747 2011年10月査読

Xue B, Chen J, Gao H, Saito S, Kobayashi N, Shimokawa T, Nabeka H, Sano A, Matsuda S . Chronological changes in prosaposin in the developing rat brain . Neurosci Res71 ( 1 ) 22 - 34 2011年9月査読

Takata A, Kato M, Nakamura M, Yoshikawa T, Kanba S, Sano A, Kato T . Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia . Genome Biol12 ( 9 ) R92 2011年9月査読

Ishizuka T, Nakamura M, Ichiba M, Sano A . Familial Semantic Dementia with P301L Mutation in the Tau Gene . Dement Geriatr Cogn Disord31 ( 5 ) 334 - 340 2011年7月査読

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