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CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy

Journal of Genetics and Genomics 2024年第2期51卷 184-196页

作者： Yan Shi Chunyan Cao Yiheng Zeng Yuanliang Ding Long Chen Fuze Zheng Xuejiao Chen Fanggui Zhou Xiefeng Yang Jinjing Li Liuqing Xu Guorong Xu Minting Lin Hiroyuki Ishiura shoji tsuji Ning Wang Zhiqiang Wang Wan-Jin Chen Kang Yang Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of NeuroscienceFujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouFujian 350005China Department of Neurology National Regional Medical CenterBinhai Campus of the First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350212China The First Affiliated Hospital College of Clinical Medicine of Henan University of Science and TechnologyLuoyangHenan 471000China Department of Neurology Zhangzhou Municipal Hospital of Fujian Province and Zhangzhou Affiliated Hospital of Fujian Medical UniversityZhangzhouFujian 363000China Department of Neurology Jian'ou Municipal Hospital of Fujian ProvinceJian'ouFujian 353100China Department of Radiology First Affiliated Hospital of Fujian Medical UniversityFuzhouFujian 350005China Department of Neurology Graduate School of MedicineThe University of TokyoTokyo 113-8655Japan Department of Neurology Okayama University Graduate School of MedicineDentistry and Pharmaceutical SciencesOkayama 700-8558Japan Institute of Medical Genomics International University of Health and WelfareChiba 286-0048Japan

CGG repeat expansions in LOC642361/NUTM2B-AS1 have recently been identified as a cause of oculopharyngeal myopathy with ***,since only three patients from a single family were reported,it remains unknown whether their clinicopathological features are typical for CGG repeat expansions in LOC642361/***,using repeat-primed-polymerase chain reaction and long-read sequencing,we identify 12 individuals from 3 unrelated families with CGG repeat expansions in LOC642361/NUTM2B-AS1,typically presenting with oculopharyngodistal *** CGG repeat expansions range from 161 to 669 repeat *** of the patients present with ptosis,restricted eye movements,dysphagia,dysarthria,and diffuse limb muscle *** one patient shows T2-weighted hyperintensity in the cerebellar white matter surrounding the deep cerebellar nuclei on brain magnetic resonance *** biopsies from three patients show a myopathic pattern and rimmed *** of muscle biopsies suggest that CGG repeat expansions in LOC642361/NUTM2B-AS1 may deleteriously affect aggrephagic capacity,suggesting that RNA toxicity and mitochondrial dysfunction may contribute to *** study thus expands the phenotypic spectrum for the CGG repeat expansion of LOC642361/NUTM2B-AS1 and indicates that this genetic variant typically manifests as oculopharyngodistal myopathy with chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions in muscle fibers.

关键词： Oculopharyngeal myopathy with leukoencephalopathy Oculopharyngodistal myopathy CGG repeat expansion Rimmed vacuoles

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Pathogenesis of childhood idiopathic nephrotic syndrome:a paradigm shift from T-cells to podocytes

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World Journal of Pediatrics 2015年第1期11卷 21-28页

作者： Kazunari Kaneko shoji tsuji Takahisa Kimata Tetsuya Kitao Sohsaku Yamanouchi Shogo Kato Department of Pediatrics Kansai Medical University2-5-1 Shin-machiHirakataOsaka 573-1010Japan

Background:Nephrotic syndrome is the most common cause of kidney disease in children,but its pathogenesis remains *** article reviews the novel aspects of the mechanisms underlying massive proteinuria in minimal-change disease,which is the most common form of childhood nephrotic *** sources:This article integrates the findings of a PubMed database search for English language articles published in the past 40 years(from September 1974 to February 2014)using the key words"pathogenesis","minimal change nephrotic syndrome"or"idiopathic ne phrotic syndrome".Results:Unknown humoral factors associated with T-cell dysfunction have been thought to play an important role in the pathogenesis of minimal-change ***,recent findings are changing this paradigm,i.e,visceral glomerular epithelial cells(podocytes)may be involved via expression of molecules such as CD80 and angiopoietin-like ***:Recent evidence suggests that minimal-change disease results from interactions between humoral factors and dysfunctional *** addition to immunosuppressant drugs that target lymphocytes,a biological agent such as an antibody against the abnormal molecule(S)expressed by podocytes may provide novel drug treatment for minimal-change disease.

关键词： angiopoietin-like 4 CD80 cytokine minimal change nephrotic syndrome podocyte

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Prevention of hospital-acquired hypokalemia in children receiving maintenance fluid therapy

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Open Journal of Pediatrics 2012年第2期2卷 138-142页

作者： Kazunari Kaneko Ken Yoshimura Takahisa Kimata Kohsuke Ishii Tetsuya Kitao Sachiyo Tanaka shoji tsuji Department of Pediatrics Kansai Medical University Osaka Japan

Objective: It has been suggested that the use of hypotonic intravenous fluid (IVF) puts hospitalized children at a greater risk of developing hyponatremia in children with increased arginine vasopressin (AVP) production. To reduce its risk, the National Patient Safety Agency in UK issued alert 22 in 2007, of which recommendations were to use isotonic solutions for these children at risk of hyponatremia, instead of the previously most commonly used IVF (0.18% saline/ 4% dextrose) for maintenance fluid therapy. Recent observations, however, revealed that hypokalemia are also common in hospitalized patients who do not receive potassium in their IVF. This study was conducted to validate the potassium added IVF for the prevention of hospital-acquired hypokalemia in maintenance fluid therapy. Design: For maintenance fluid therapy, a commercially available IVF solution in Japan named as Solita-T2R (Na 84 mmol/L, K 20 mmol/L, Cl 66 mmol/L, glucose 3.2%) was infused for 41 sick children with a median age of 3.01 years. Its composition is close equivalent to 0.45% saline/5% dextrose (Na 77 mmol/L, K 0 mmol/L, Cl 77 mmol/L, dextrose 5%) except K content. The patients in states of AVP excess were excluded from the analysis. Results: Median serum potassium value did not drop significantly at a median interval of 48 hours (before IVF: 4.30 mmol/L, after IVF: 4.10 mmol/L, p > 0.05), whereas median serum sodium level significantly increased from 136.0 mmol/L to 139.0 mmol/L (p < 0.001). Conclusion: Potassium added (20 mmol/L) IVF solution reduces the risk of developing “hospital-acquired hypokalemia” in children who are not in states of AVP excess in maintenance fluid therapy. It is worthwhile to study prospectively in a larger number of sick children.

关键词： Hyponatremia Hypokalemia Hypotonic Intravenous Fluid Maintenance Fluid Therapy Potassium Content

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The deterministic condition for the ground reaction force acting point on the combined knee valgus and tibial internal rotation moments in early phase of cutting maneuvers in female athletes

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Journal of Sport and Health Science 2024年第3期13卷 376-386页

作者： Issei Ogasawara Ken Ohta Gajanan S.Revankar shoji Konda Yohei Shimokochi Hideyuki Koga Ken Nakata Department of Health and Sport Sciences Graduate School of MedicineOsaka UniversityToyonaka 560-0043Japan Sports Sensing Co. LTD.Fukuoka 815-0035Japan Department of Neurology Graduate School of MedicineOsaka UniversitySuita 565-0871Japan Department of Health and Sport Management Osaka University of Health and Sport SciencesSennan-gun 590-0496Japan Department of Joint Surgery and Sports Medicine Graduate School of Medical and Dental SciencesTokyo Medical and Dental UniversityBunkyo-ku 113-8519Japan

Background:Combined knee valgus and tibial internal rotation(VL+IR)moments have been shown to stress the anterior cruciate ligament(ACL)in several in vitro cadaveric *** utilize this knowledge for non-contact ACL injury prevention in sports,it is necessary to elucidate how the ground reaction force(GRF)acting point(center of pressure(CoP))in the stance foot produces combined knee VL+IR moments in risky maneuvers,such as ***,the effects of the GRF acting point on the development of the combined knee VL+IR moment in cutting are still ***:We first established the deterministic mechanical condition that the CoP position relative to the tibial rotational axis differentiates the GRF vector’s directional probability for developing the combined knee VL+IR moment,and theoretically predicted that when the CoP is posterior to the tibial rotational axis,the GRF vector is more likely to produce the combined knee VL+IR moment than when the CoP is anterior to the tibial rotational ***,we tested a stochastic aspect of our theory in a lab-controlled in vivo *** females performed 60˚cutting under forefoot/rearfoot strike conditions(10 trials each).The positions of lower limb markers and GRF data were measured,and the knee moment due to GRF vector was *** trials were divided into anterior-and posterior-CoP groups depending on the CoP position relative to the tibial rotational axis at each 10 ms interval from 0 to 100 ms after foot strike,and the occurrence rate of the combined knee VL+IR moment was compared between trial ***:The posterior-CoP group showed significantly higher occurrence rates of the combined knee VL+IR moment(maximum of 82.8%)at every time point than those of the anterior-CoP trials,as theoretically predicted by the deterministic mechanical ***:The rearfoot strikes inducing the posterior CoP should be avoided to reduce the risk of non-contact ACL injury associated with the com

关键词： Center of pressure Deterministic condition Foot strike pattern Injury mechanism Moment of ground reaction force

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Immunotherapy for esophageal cancer:Where are we now and where can we go

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World Journal of Gastroenterology 2024年第19期30卷 2496-2501页

作者： Yoshiaki shoji Kazuo Koyanagi Kohei Kanamori Kohei Tajima Mika Ogimi Yamato Ninomiya Miho Yamamoto Akihito Kazuno Kazuhito Nabeshima Takayuki Nishi Masaki Mori Department of Gastroenterological Surgery Tokai University School of MedicineKanagawa 259-1193Japan

Immune checkpoint inhibitor therapy has dramatically improved patient prognosis,and thereby transformed the treatment in various cancer types including esophageal squamous cell carcinoma(ESCC)in the past *** antibodies that selectively inhibit programmed cell death-1(PD-1)activity has now become standard of care in the treatment of ESCC in metastatic settings,and has a high expectation to provide clinical benefit during perioperative ***,anti-cytotoxic T-lymphocyte–associated protein 4(CTLA-4)monoclonal antibody has also been approved in the treatment of recurrent/metastatic ESCC in combination with anti-PD-1 *** understanding of the existing evidence of immune-based treatments for ESCC,as well as recent clinical trials on various combinations with chemotherapy for different clinical settings including neoadjuvant,adjuvant,and metastatic diseases,may provide future prospects of ESCC treatment for better patient outcomes.

关键词： Esophageal cancer Immunotherapy Immune checkpoint inhibitor Programmed cell death-1 Anti-cytotoxic T-lymphocyte-associated protein 4 Neoadjuvant therapy Adjuvant therapy Clinical trials Combination therapy

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Intronic pentanucleotide TTTCA repeat insertion in SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

Intronic pentanucleotide TTTCA repeat insertion in SAMD12 ge...

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2018年浙江省神经病学学术年会

作者： Zhidong Cen Zhengwen Jiang You Chen Xiaosheng Zheng Fei Xie Xiaodong Yang Xingjiao Lu Zhiyuan Ouyang Hongwei Wu Si Chen Houmin Yin Xia Qiu Shuang Wang Meiping Ding Yelei Tang Feng Yu Caihua Li Tao Wang Hiroyuki Ishiura shoji tsuji Chuan Jiao Chunyu Liu Jianfeng Xiao Wei Luo Department of Neurology Second Affiliated Hospital School of Medicine Zhejiang University Intensive Care Unit Zhejiang Hospital Department of Neurology Sir Run Run Shaw Hospital School of Medicine Zhejiang University Department of Neurology Ruijin Hospital School of Medicine Shanghai Jiao Tong University Department of Neurology Zhejiang Hospital Department of Neurology Lishui People’s Hospital Cancer Institute Key Laboratory of Cancer Prevention and Intervention China National Ministry of Education Second Affiliated Hospital School of Medicine Zhejiang University Department of Neurology Faculty of Medicine The University of Tokyo Department of Molecular Neurology Graduate School of Medicine The University of Tokyo International University of Health and Welfare Graduate School Center for Medical Genetics School of Life Sciences Central South University Department of Psychiatry SUNY Upstate Medical University Department of Neurology University of Tennessee Health Science Center

Familial cortical myoclonic tremor with epilepsy is an autosomal dominant neurodegenerative disease, characterized by cortical tremor and epileptic seizures. Although four subtypes(type 1-4) mapped on different chromosomes(8 q24, 2 p11.1-q12.2, 5 p15.31-p15.1 and 5 p15.31-p15.1) have been reported, the causative gene has not yet been identified. Here, we report the genetic study in a cohort of twenty Chinese pedigrees with familial cortical myoclonic tremor with epilepsy. Linkage and haplotype analysis in 11 pedigrees revealed maximum two-point LOD scores from 1.64 to 3.77(LOD scores in 5 pedigrees were > 3.0) in chromosomal region 8 q24 and narrowed the candidate region to an interval of 4.9 Mb. Using whole-genome sequencing, long-range PCR and repeat-primed PCR, we identified an intronic pentanucleotide(TTTCA)n insertion in SAMD12 gene as the cause, which was cosegregated with the disease among the 11 pedigrees mapped on 8 q24 and additional 7 un-mapped pedigrees. Only 2 pedigrees did not detect this(TTTCA)n insertion. Repeat-primed PCR revealed that the sizes of(TTTCA)n insertion in all affected members were larger than 105 repeats. The same pentanucleotide insertion(ATTTCATTTC) 58 has been reported to form RNA foci resulting in neurotoxicity in spinocerebellar ataxia type 37, which suggests the similar pathogenic process in familial cortical myoclonic tremor with epilepsy type 1.

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ND3基因突变导致Leber遗传性视神经病伴肌张力障碍

ND3基因突变导致Leber遗传性视神经病伴肌张力障碍

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第九次全国神经病学学术大会

作者：王康高宗良王国相陈先文金淼刘兴洲杜皓萍孙劭杰顾卫红娄晋宁高桥佑二 shoji tsuji 中日友好医院神经内科安徽医科大学附属医院神经内科东京大学附病院神经内科

本研究首次应用微阵列技术,第一次在世界上发现:线粒体ND3基因突变导致Leber遗传性视神经病伴肌张力障碍。研究背景:Leber遗传性视神经病伴肌张力障碍(Leber Hereditary Optic Neuropathy and Dystonia,LDYT)是一种独特的氧化磷酸化疾病...

本研究首次应用微阵列技术,第一次在世界上发现:线粒体ND3基因突变导致Leber遗传性视神经病伴肌张力障碍。研究背景:Leber遗传性视神经病伴肌张力障碍(Leber Hereditary Optic Neuropathy and Dystonia,LDYT)是一种独特的氧化磷酸化疾病,其突出特点是视神经病与肌张力障碍及其他神经系统障碍的多变组合,已发现的家系由线粒体ND6 或ND4基因突变导致。材料和方法:在一个有43人的中国汉人家系里,6人表现童年发病的肌张力障碍伴青春期或成年发病的视神经萎缩,12人仅表现成年发病的视神经萎缩,部分患者伴色盲。肌张力障碍患者的头部CT和MRI提示基底节区对称性坏死,累及壳核、苍白球和尾状核。线粒体DNA芯片(Mitochondrial resequencing 2．0 array,AffymetrixTM)被用于测定全线粒体基因组序列,所发现的碱基改变再用直接测序法证实。线粒体DNA芯片技术中所使用的PCR引物所在区域经重新设计的PCR反应扩增后直接测序。结果:在所检测患者的线粒体DNA内未发现任何已知突变,在所发现的8个未报道过的新变异中,只有G10197A是非同义突变,该家系所有患者携带G10197A突变,该突变导致ND3蛋白质第47位残基的高度保守丙氨酸被苏氨酸取代,在父系亲属、101例正常对照及67例其他线粒体病患者中均无此突变存在。讨论:该家系临床特征符合LDYT,具有表型的高度变异性,与已报道的家系一致。该家系的外显率高达85．7％(男性81．8％,女性90％), 是十分不同寻常的,这可能与所有突变携带者都是纯合状态有关。ND3第47位残基从进化保守性来看属于高度保守的氨基酸,从氨基酸性质来看,丙氨酸是疏水性脂肪族侧链氨基酸,而苏氨酸是带羟基侧链的亲水性氨基酸,二者性质大相径庭。因此,G10197A突变的致病性是较为肯定的。ND3基因突变被报道与Leigh病和Leigh样脑病相关,有作者认为也可能是部分LHON的致病基因,本文是首次有关ND3突变导致LDYT的报道。

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Analysis of in-bore balloting and control of jump variability

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Defence Technology（防务技术） 2019年第5期15卷 721-734页

作者： Satoru shoji Wakayama-dai ShimamotoOsakaJapan21-104

The variability of projectile jump is the long-term issue to improve weapon *** we have many simulation codes to predict ***,these codes cannot explain explicitly how the variability of jump *** aims of this paper are,(1)to give fundamental explanations for the variability of Jump,and (2)to offer design factors to make the variability of Jump *** model presented here was formulated in accordance with the transition of the system in reverse way commencing from the target impact stage to the chambering *** of the simulation are generic 120mm smooth bore and long rod system which are extremely simplified to the vibration of tube,the spring effect by sabot,and the free-ends beam of *** calculations clarified that high Jump-variability is generated only when the last rebound is on the muzzle *** particular state of rebound is achieved by many combinations of *** map named JV-Chart is proposed to show the high Jumpvariability zone.

关键词： Jump variability Coupled vibration In-bore balloting Cantilever tube

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Kostka functions associated to complex reflection groups and a conjecture of Finkelberg-Ionov

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Science China Mathematics 2018年第2期61卷 353-384页

作者： Toshiaki shoji Department of Mathematics Tongji University

Kostka functions K_(λ,μ)~±(t), indexed by r-partitions λ and μ of n, are a generalization of Kostka polynomials K_(λ,μ)(t) indexed by partitions λ,μ of n. It is known that Kostka polynomials have an interpretation in terms of Lusztig's partition function. Finkelberg and Ionov(2016) defined alternate functions K_(λ,μ)(t) by using an analogue of Lusztig's partition function, and showed that K_(λ,μ)(t) ∈Z≥0[t] for generic μ by making use of a coherent realization. They conjectured that K_(λ,μ)(t) coincide with K_(λ,μ)^-(t). In this paper, we show that their conjecture holds. We also discuss the multi-variable version, namely, r-variable Kostka functions K_(λ,μ)~±(t_1,…,t_r).

关键词： Kostka functions complex reflection groups conjecture of Finkelberg-Ionov

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2,2′-Biazulene diimide-based conjugate polymers for highperformance field-effect transistors

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Science China Chemistry 2018年第8期61卷 973-974页

作者： Taku shoji Shunji Ito Graduate School of Science and Technology Shinshu University Graduate School of Science and Technology Hirosaki University

Azulene,which is one of the non-alternating 10π-electron aromatic compounds,has attracted the interest of many research groups due to the application to material sciences utilizing the unique optoelectronic properties.

关键词： Th THF Biazulene diimide-based conjugate polymers for highperformance field-effect transistors PTB

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