Faculty Profiles - TAKAHASHI, Yoshiyuki

Papers - TAKAHASHI, Yoshiyuki

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droplet digital PCRを用いた若年性骨髄単球性白血病におけるサブクローナルなSETBP1とJAK3変異の検出

若松学, 村上典寛, 奥野友介, 北澤宏展, 山森彩子, 今屋雅之, 吉田太郎, 三輪田俊介, 成田幸太郎, 北澤展典, 濱田太立, 市川大輔, 谷口理恵子, 西川英里, 川島希, 成田敦, 西尾信博, 村松秀城, 小島勢二, 高橋義行

日本小児科学会雑誌 Vol. 124 ( 5 ) page： 881 - 881 2020.5

Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. Reviewed International journal

Kohji Kato, Yasuyoshi Oka, Hideki Muramatsu, Filipp F Vasilev, Takanobu Otomo, Hisashi Oishi, Yoshihiko Kawano, Hiroyuki Kidokoro, Yuka Nakazawa, Tomoo Ogi, Yoshiyuki Takahashi, Shinji Saitoh

Journal of medical genetics Vol. 57 ( 4 ) page： 245 - 253 2020.4

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: 3C/Ritscher-Schinzel syndrome is characterised by congenital cranio-cerebello-cardiac dysplasia, where CCDC22 and WASHC5 are accepted as the causative genes. In combination with the retromer or retriever complex, these genes play a role in endosomal membrane protein recycling. We aimed to identify the gene abnormality responsible for the pathogenicity in siblings with a 3C/Ritscher-Schinzel-like syndrome, displaying cranio-cerebello-cardiac dysplasia, coloboma, microphthalmia, chondrodysplasia punctata and complicated skeletal malformation. METHODS: Exome sequencing was performed to identify pathogenic variants. Cellular biological analyses and generation of knockout mice were carried out to elucidate the gene function and pathophysiological significance of the identified variants. RESULTS: We identified compound heterozygous pathogenic variants (c.1097dup; p.Cys366Trpfs*28 and c.2755G>A; p.Ala919Thr) in the VPS35L gene, which encodes a core protein of the retriever complex. The identified missense variant lacked the ability to form the retriever complex, and the frameshift variant induced non-sense-mediated mRNA decay, thereby confirming biallelic loss of function of VPS35L. In addition, VPS35L knockout cells showed decreased autophagic function in nutrient-rich and starvation conditions, as well as following treatment with Torin 1. We also generated Vps35l-/- mice and demonstrated that they were embryonic lethal at an early stage, between E7.5 and E10.5. CONCLUSIONS: Our results suggest that biallelic loss-of-function variants in VPS35L underlies 3C/Ritscher-Schinzel-like syndrome. Furthermore, VPS35L is necessary for autophagic function and essential for early embryonic development. The data presented here provide a new insight into the critical role of the retriever complex in fetal development.

DOI： 10.1136/jmedgenet-2019-106213

Web of Science

PubMed

Mesenchymal stem/stromal cells stably transduced with an inhibitor of CC chemokine ligand 2 ameliorate bronchopulmonary dysplasia and pulmonary hypertension. Reviewed International journal

Toshihiko Suzuki, Yoshiaki Sato, Hidenori Yamamoto, Taichi Kato, Yuma Kitase, Kazuto Ueda, Haruka Mimatsu, Yuichiro Sugiyama, Atsuto Onoda, Shigeki Saito, Yoshiyuki Takahashi, Takayuki Nakayama, Masahiro Hayakawa

Cytotherapy Vol. 22 ( 4 ) page： 180 - 192 2020.4

Language：English Publishing type：Research paper (scientific journal)

Perinatal bronchopulmonary dysplasia (BPD) is defined as lung injury in preterm infants caused by various factors, resulting in serious respiratory dysfunction and high mortality. The administration of mesenchymal stem/stromal cells (MSCs) to treat/prevent BPD has proven to have certain therapeutic effects. However, MSCs can only weakly regulate macrophage function, which is strongly involved in the development of BPD. 7ND-MSCs are MSCs transfected with 7ND, a truncated version of CC chemokine ligand 2 (CCL2) that promotes macrophage activation, using a lentiviral vector. In the present study, we show in a BPD rat model that 7ND-MSC administration, but not MSCs alone, ameliorated the impaired alveolarization evaluated by volume density and surface area in the lung tissue, as well as pulmonary artery remodeling and pulmonary hypertension induced by BPD. In addition, 7ND-MSCs, but not MSCs alone, reduced M1 macrophages and the messenger RNA expressions of interleukin-6 and CCL2 in the lung tissue. Thus, the present study showed the treatment effect of 7ND-MSCs in a BPD rat model, which was more effective than that of MSCs alone.

DOI： 10.1016/j.jcyt.2020.01.009

Web of Science

PubMed

Clinical Characteristics and Treatment Outcomes of Pediatric Patients with Non-Hodgkin Lymphoma in East Asia. Reviewed International journal Open Access

Jin Kyung Suh, Yi-Jin Gao, Jing-Yan Tang, Shiann-Tarng Jou, Dong-Tsamn Lin, Yoshiyuki Takahashi, Seiji Kojima, Ling Jin, Yonghong Zhang, Jong Jin Seo

Cancer research and treatment : official journal of Korean Cancer Association Vol. 52 ( 2 ) page： 359 - 368 2020.4

Language：English Publishing type：Research paper (scientific journal)

PURPOSE: The presentations and geographic incidence of pediatric non-Hodgkin lymphoma (NHL) differ from those of adults. This study delineated the characteristics and outcomes of pediatric NHL in East Asia. MATERIALS AND METHODS: Medical records of 749 pediatric patients with NHL treated at participating institutions in mainland China, Japan, Korea, and Taiwan from January 2008 to December 2013 were reviewed. Demographic and clinical features, survival outcomes, and putative prognostic factors were analyzed. RESULTS: Five hundred thirty patients (71%) were male. The most common pathologic subtypes were Burkitt lymphoma (BL) (36%). Six hundred seven patients (81%) had advanced diseases at diagnosis. The 5-year overall survival and event-free survival (EFS) rates were 89% and 84%. The 5-year EFS rates of BL, lymphoblastic lymphoma, and diffuse large B-cell lymphoma were 88%, 88%, and 89%, and those of anaplastic large cell lymphoma (ALCL) and peripheral T-cell lymphoma (PTCL) were 71% and 56% (p < 0.001). Central nervous system involvement, high lactate dehydrogenase level (> 250 IU/mL), and advanced disease at diagnosis (≥ stage III) were associated with poor outcomes (p < 0.05). ALCL and PTCL relapsed more frequently than other pathologic subtypes (p < 0.001). CONCLUSION: In East Asia, PTCL was more frequent than in Western countries, and bone marrow involvement did not affect treatment outcome. This international study should motivate future collaborative study on NHL in East Asia.

DOI： 10.4143/crt.2019.219

Open Access

Web of Science

PubMed

【小児血液・腫瘍疾患の最前線】診療のトピックス高リスク神経芽腫に対するGD2抗体療法

高橋義行

小児科診療 Vol. 83 ( 4 ) page： 455 - 458 2020.4

Language：Japanese Publishing type：Research paper (scientific journal) Publisher：(株)診断と治療社

●神経芽腫に対する免疫療法の標的分子として、ジシアロガングリオシドGD2抗原タンパクに対するモノクローナル抗体がGD2抗体である。●治療毒性(疼痛、アレルギー反応、血管漏出症候群など)があるものの管理は可能で、欧米ではすでに高リスク神経芽腫の標準治療薬として保険承認されている。●わが国では米国製剤、欧州製剤ともに治験が行われており、ドラッグラグ解消のため早期承認が望まれている。(著者抄録)

Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum. Reviewed International journal

Naoya Yamaguchi, Kyoko Ban, Atsushi Suzuki, Yuji Nakamura, Kohji Kato, Hideki Muramatsu, Yusuke Okuno, Ayako Hattori, Tadashi Kaname, Yoshiyuki Takahashi, Shinji Saitoh

Brain & development Vol. 42 ( 3 ) page： 298 - 301 2020.3

Language：English Publishing type：Research paper (scientific journal)

Mucolipidosis type IV (MLIV) is a rare lysosomal storage disorder causing severe psychomotor developmental delay and progressive visual impairment. MLIV is an autosomal recessive disease caused by mutations in MCOLN1, which encodes for mucolipin-1. Here, we report a case of a 4-year-old Japanese girl with severe intellectual disability and motor deficits. Brain magnetic resonance imaging showed signal abnormalities in the white matter and thinning of the corpus callosum. Whole-exome sequencing was performed on the proband and her parents, and novel compound heterozygous mutations at c.936_938del (p.Phe313del) and c.1503dupC (p.Ile502Hisfs*106) in MCOLN1 (NM_020533.2) were identified in the proband. Additional biochemical examinations revealed elevated serum gastrin level and iron deficiency anemia, leading to the diagnosis of MLIV. More reports of such pathogenic mutations are expected to broaden the understanding of the channel function of mucolipin-1 and genotype-phenotype correlations.

DOI： 10.1016/j.braindev.2019.12.003

Web of Science

PubMed

Respiratory illness and acute flaccid myelitis in the Tokai district in 2018. Reviewed International journal

Akihisa Okumura, Shingo Numoto, Hideyuki Iwayama, Hirokazu Kurahashi, Jun Natsume, Shinji Saitoh, Tetsushi Yoshikawa, Toshiyuki Fukao, Masahiro Hirayama, Yoshiyuki Takahashi

Pediatrics international : official journal of the Japan Pediatric Society Vol. 62 ( 3 ) page： 337 - 340 2020.3

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: An outbreak of acute flaccid myelitis was chronologically correlated with an outbreak of severe respiratory illness in Japan in 2015. We hypothesized that increases in children hospitalized with severe respiratory illnesses might also be associated with increase in acute flaccid myelitis in autumn 2018. METHODS: We explored the temporal correlations between respiratory illness outbreaks and acute flaccid myelitis during autumn season between 2016 and 2018 using questionnaire surveys. One questionnaire explored the monthly numbers of children with acute flaccid myelitis, Guillain-Barré syndrome, and other acute flaccid paralyses. The other questionnaire explored the monthly numbers of children hospitalized with respiratory illnesses associated with wheezing. A correlation between the monthly numbers of children with acute flaccid myelitis and those with respiratory illness was analyzed using the Pearson correlation test. RESULTS: Although the number of patients hospitalized with respiratory illness did not correlate with the number of those admitted with myelitis, increases in children aged 7-12 and 13-19 years requiring intensive care unit admission correlated temporally with an outbreak of acute flaccid myelitis. CONCLUSIONS: An increase in intensive care unit admissions to treat respiratory disease occurred in association with a cluster of acute flaccid myelitis. An increase in the number of intensive care unit admissions due to respiratory illness may be a clue to expect the occurrence of acute flaccid myelitis.

DOI： 10.1111/ped.14128

Web of Science

PubMed

繰り返す胸痛の経過中に突然発症した心室頻拍の1例

三輪剛士, 山本英範, 深澤佳絵, 六鹿雅登, 加藤太一, 高橋義行

日本小児科学会雑誌 Vol. 124 ( 3 ) page： 611 - 612 2020.3

早期よりエトレチナートを投与し効果がみられた道化師様魚鱗癬の1例

近藤真生, 浅田英之, 本部和也, 郷間環, 新井紗記子, 上田一仁, 三浦良介, 呉尚治, 兵藤玲奈, 鈴木俊彦, 伊藤美春, 齊藤明子, 村松友佳子, 佐藤義朗, 山本ひかる, 加藤有一, 杉山裕一郎, 高橋義行, 早川昌弘

日本小児科学会雑誌 Vol. 124 ( 3 ) page： 609 - 610 2020.3

急性弛緩性脊髄炎による左上肢麻痺に対して神経移行術を施行した1例

西尾洋介, 中田智彦, 白木杏奈, 鈴木健史, 川口将宏, 牧祐輝, 田中雅大, 坂口陽子, 成田敦, 山本啓之, 城所博之, 梶田光春, 平田仁, 高橋義行, 夏目淳

日本小児科学会雑誌 Vol. 124 ( 3 ) page： 604 - 604 2020.3

小児がん・白血病治療における最新医療次世代シークエンサーの臨床応用と遺伝子導入T細胞療法

高橋義行

日本小児科学会雑誌 Vol. 124 ( 3 ) page： 582 - 582 2020.3

TREC/KRECキットを用いた新生児マススクリーニング検査法の有用性

若松学, 村松秀城, 片岡伸介, 山森彩子, 今屋雅之, 吉田太郎, 三輪田俊介, 成田幸太郎, 北澤宏展, 濱田太立, 市川大輔, 谷口理恵子, 西川英里, 川島希, 成田敦, 奥野友介, 西尾信博, 中島葉子, 伊藤哲哉, 柘植郁哉, 中村富美子, 酒井好美, 小島勢二, 高橋義行

日本小児科学会雑誌 Vol. 124 ( 3 ) page： 605 - 605 2020.3

Multilineage-differentiating stress enduring cellsの新生児低酸素性虚血性脳症に対する治療効果の検討

鈴木俊彦, 佐藤義朗, 上田一仁, 北瀬悠磨, 呉尚治, 三浦良介, 浅田英之, 兵藤玲奈, 伊藤美春, 齊藤明子, 村松友佳子, 高橋義行, 早川昌弘

日本小児科学会雑誌 Vol. 124 ( 3 ) page： 595 - 596 2020.3

Human herpesvirus-6B infection in pediatric allogenic hematopoietic stem cell transplant patients: Risk factors and encephalitis. Reviewed International journal

Hiroki Miura, Yoshiki Kawamura, Fumihiko Hattori, Makito Tanaka, Kazuko Kudo, Masaru Ihira, Hiroshi Yatsuya, Yoshiyuki Takahashi, Seiji Kojima, Hirotoshi Sakaguchi, Nao Yoshida, Asahito Hama, Tetsushi Yoshikawa

Transplant infectious disease : an official journal of the Transplantation Society Vol. 22 ( 1 ) page： e13203 2020.2

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: Human herpesvirus-6B (HHV-6B) infection after allogenic hematopoietic stem cell transplantation (allo-HSCT) is known to be associated with post-transplant limbic encephalitis in adults. Meanwhile, the association between HHV-6B infection and central nervous system complications remains unclear in pediatric allo-HSCT patients. METHODS: In this study, HHV-6B infection was monitored for more than 50 days after HSCT using virus isolation and real-time PCR. Clinical information such as patient background and encephalitis status was collected retrospectively from medical records. Risk factors for HHV-6B infection were determined by the Cox proportional hazards model, and the clinical features of HHV-6B encephalitis in pediatric allo-HSCT patients were elucidated. RESULTS: Human herpesvirus-6B infection was observed in 74 (33.8%) of 219 patients at 3-47 days (median 18, interquartile range 13-20). Risk factors identified in multivariable analysis were hematological malignancy (hazards ratio [HR], 5.0; 95% confidence interval [CI], 2.3/12.5; P < .0001), solid tumor (HR, 4.8; CI, 1.5/16.3; P = .0104), unrelated donor (HR, 2.1; CI, 1.0/4.6; P = .0378), and sex-mismatched donor (HR 1.8; CI, 1.1/3.0; P = .0257). HHV-6B encephalitis occurred in only one of the 219 patients (0.46%); this patient demonstrated the typical clinical course of posterior reversible encephalopathy syndrome. CONCLUSION: Hematological malignancy, solid tumor, unrelated donor, and sex-mismatched donor were significant risk factors for HHV-6B infection after pediatric allo-HSCT. In pediatric allo-HSCT patients, the incidence of HHV-6B encephalitis was low and the clinical features differed from those in adult patients.

DOI： 10.1111/tid.13203

Web of Science

PubMed

Pseudo-sawtooth pattern on amplitude-integrated electroencephalography in neonatal hypoxic-ischemic encephalopathy. International journal Open Access

Masaharu Tanaka, Hiroyuki Kidokoro, Tetsuo Kubota, Tatsuya Fukasawa, Yu Okai, Yoko Sakaguchi, Yuji Ito, Hiroyuki Yamamoto, Atsuko Ohno, Tomohiko Nakata, Tamiko Negoro, Akihisa Okumura, Toru Kato, Kazuyoshi Watanabe, Yoshiyuki Takahashi, Jun Natsume

Pediatric research Vol. 87 ( 3 ) page： 529 - 535 2020.2

Language：English Publishing type：Research paper (scientific journal)

OBJECTIVE: The objective of this study was to describe a novel amplitude-integrated electroencephalography (aEEG) pattern in infants with hypoxic-ischemic encephalopathy (HIE) and to assess the clinical significance. METHODS: The aEEG traces of infants with HIE who were treated with therapeutic hypothermia (TH) from 2012 to 2017 were analyzed. A pseudo-sawtooth (PST) pattern was defined as a periodic increase of the upper and/or lower margin of the trace on aEEG without showing seizure activities on conventional EEG (CEEG). RESULTS: Of the 46 infants, 6 (13%) had the PST pattern. The PST pattern appeared following a flat trace or a continuous low-voltage pattern and was followed by a burst-suppression pattern. On CEEG, the PST pattern consists of alternating cycles of low-voltage irregular activities and almost flat tracing. The PST pattern was associated with neuroimaging abnormalities and with various degrees of neurodevelopmental outcomes. Positive predictive values of the PST or worse pattern for adverse outcomes were high at 12 h after birth. CONCLUSION: A novel aEEG background pattern in infants with HIE was reported. The PST pattern likely indicates a suppressed background pattern and may be linked to unfavorable outcomes. Further multicenter validation study is needed to clarify its clinical significance.

DOI： 10.1038/s41390-019-0567-5

Web of Science

PubMed

造血幹細胞移植を受けた小児における拡散テンソル画像解析

坂口陽子, 城所博之, 白木杏奈, 鈴木健史, 川口将宏, 牧祐輝, 田中雅大, 山本啓之, 中田智彦, 村松秀城, 高橋義行, 夏目淳

日本小児科学会雑誌 Vol. 124 ( 2 ) page： 290 - 290 2020.2

神経芽腫寛解導入療法における重症呼吸器症状のリスク因子の検討(Severe respiratory symptoms during induction chemotherapy in neuroblastoma)

松井基浩, 山岡祥子, 斎藤雄弥, 横川裕一, 牧本敦, 西川英里, 川島希, 成田敦, 西尾信博, 村松秀城, 高橋義行, 浦島充佳, 湯坐有希

日本小児科学会雑誌 Vol. 124 ( 2 ) page： 294 - 294 2020.2

腫瘍性疾患と鑑別を要したPhlegmonous gastritisの小児例

三輪田俊介, 成田敦, 吉田太郎, 今屋雅之, 山森彩子, 若松学, 成田幸太郎, 北澤宏展, 濱田太立, 市川大輔, 谷口理恵子, 西川英里, 川島希, 奥野友介, 村松秀城, 西尾信博, 小島勢二, 阿部直紀, 岩田直美, 高橋義行

日本小児科学会雑誌 Vol. 124 ( 2 ) page： 333 - 333 2020.2

川崎病症例における血清中微生物メタゲノム解析

鳥居ゆか, 堀場千尋, 早野聡, 加藤太一, 鈴木高子, 川田潤一, 高橋義行, 小島勢二, 伊藤嘉規

日本小児科学会雑誌 Vol. 124 ( 2 ) page： 223 - 223 2020.2

Targetable driver mutations in multicentric reticulohistiocytosis. Reviewed International journal Open Access

Norihiro Murakami, Tomohisa Sakai, Eisuke Arai, Hideki Muramatsu, Daisuke Ichikawa, Shuji Asai, Yoshie Shimoyama, Naoki Ishiguro, Yoshiyuki Takahashi, Yusuke Okuno, Yoshihiro Nishida

Haematologica Vol. 105 ( 2 ) page： E61 - E64 2020.1

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Papers - TAKAHASHI, Yoshiyuki