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Proteolipid protein 1(PLP1) gene mutation in Chinese patients with Pelizaeus-Merzbacher disease

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Proteolipid protein 1(PLP1) gene mutation in Chinese patient...

HIV感染者中富马酸替诺福韦酯抗HBV的功效

中国神经科学学会第四次会员代表大会暨第七届全国学术会议

作者： Jing-Min wANG~1,y. wU~1,Tony.M.F.TONG~2,Stephen T.S.lam~2,Hui-Fang wANG~3,Xin-y. LI~3,y.n-Ling y.NG~1,Jiong QIN~1,Xi-Ru wU~1,y.-wu JIANG~1 1 Department of Pediatrics,Peking University.First Hospital,Beijing,100034,China 2 Clinical Genetic Service,Department of Health,HKSAR Government,Hong Kong,China 3 Department of Neurology.First Hospital affiliated to Shanxi Medical University.Taiy.an 030001,China

Objective Pelizaeus-Merzbacher disease(PMD;OMIM 312080) is a rare X-linked recessive disorder presenting with ny.tagmus,impaired motor development,ataxia,and progressive ***,PMD is divided into classical,transitional and connatal *** main cause of PMD is Proteolipid protein(PLP1) gene ***1 gene(GenBank NM00533) is located at chromosome Xq22.2,covers approximately.17 kb genomic DNA and contains seven exons encoding 276 amino *** of the PLP1 gene is the most frequent gene defect,accounting for 50%-70%of PMD cases,whereas point mutations in the coding sequence or affecting splice sites account for 10%-25%of PMD *** ligation-dependent probe amplification(MLPA) is based on the ligation of two adjacent annealing oligonucleotides followed by.quantitative PCR amplification of the ligated *** has been described recently. which is a efficient method to detect DNA duplications and *** To identify.Proteolipid protein 1(PLP1) mutations in eight unrelated Chinese patients(P1-8) with Pelizaeus-Merzbacher disease(PMD) and 14 subjects from family.(P2),and analy.e the correlation between the genoty.e and *** Genomic DNA was extracted from peripheral bloods *** was used for detecting the PLPl copy.number changes using probe mix SALSA P022 obtained from MRC Holland,Amsterdam,The *** mix included a total of 32 probes,of which seven were for each of the PLP1 exons,eight were from different regions of the X chromosome,one was from the y.chromosome and the remainders were autosomal probes for internal *** of probe sequences,gene loci and chromosome locations can be found at http://*** reactions were carried out in a thermal cy.ler according to the recommended protocol by.the *** software allowed determination of the peak area for each PCR product, and these data were entered into a spreadsheet in a Microsoft TM Excel

关键词： Pelizaeus-Merzbacher disease(PMD) proteolipid protein 1(PLP1) gene multiplex ligation-dependent probe amplification(MLPA) mutation

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世界核心医学期刊文摘（胃肠病学分册） 2006年第9期2卷 49-49页

作者： Benhamou y.Fleury.H. Trimoulet P. 陈云茹(译) 史敏(校) Service d' Hépato-Gastroentérologie Hopital Pitié Salpetri' ere 27 Boulevard de I'Hopital 75013 ParisFrance 不详

Tenofovir disoproxil fumarate(TDF)has shown in vitro activity.against both HIV and hepatitis B virus(HBV).we retrospectively.evaluated the efficacy.of TDF(300 mg/d),administered as a part of anti-retroviral therapy.in a large cohort of HIV/HBVcoinfected ***-five HIV/HBV-coinfected patients who received TDF for at least 6 months with serum HBV DNA levels above 2.3 log10 copies/mL at TDF initiation and who had stored serum samples before and during TDF therapy.were *** HBV DNA was measured on stored *** median follow-up period was 12(Q1-Q3:8-17)*** hepatitis B e antigen(HBeAg)was positive in 54 patients(83.1%).Fifty.two patients(80.0%)were receiving lamivudine(lam)(150 mg twice a day.,and 68.8%had documented lam resistance at *** HBeAg positive patients,the median reduction from baseline(8.17;Q1-Q3 = 7.30-8.30 log10copies/mL)of serum HBV DNA was 4.56 log10 copies/mL(Q1-Q3 = 3.33-5.55)(P was 2.53 log10 copies/mL(Q1-Q3 = 0.39-4.10).At the end of the study.HBV DNA became undetectable in 29.6%and 81.6%of the HBeAg positive and HBeAg-negative patients,*** HBeAg became negative in 4 patients,2 of whom acquired serum hepatitis B e *** conclusion,this retrospective analy.is demonstrates the efficacy.of TDF against wild-ty.e,presumed precore mutants and lam-resistant HBV when used as a part of anti-retroviral therapy.in HIV-coinfected patients.

关键词： HIV感染者抗HBV 替诺福韦酯富马酸抗逆转录病毒治疗 HBeAg阴性功效乙肝病毒e抗原

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丰质子核^(29)S的β延迟γ衰变研究

原子核物理评论 2023年第3期40卷 341-347页

作者：查思贤李金海覃淑炼常志芳徐新星孙立杰刘嘉健袁岑溪林承键李晓菁李智焕吴鸿毅李朋杰王建松杨彦云梁鹏飞简豪高雨枫范锐戴凡超朱浩钒王东玺蓝乙华马朋段芳芳高志浩胡强白真马军兵王建国钟福鹏武晨光罗迪雯蒋颖刘洋侯东升李忍马南茹马维虎石国柱余功明 D.Patel 金树亚王煜峰余悦超胡力元王翔臧宏亮赵青青杨磊温培威杨峰贾会明张高龙潘敏汪小雨孙浩瀚徐瑚珊周小红张玉虎胡正国王猛陈若富柳敏良杨维青中国科学院近代物理研究所兰州730000 中国科学院大学核科学与技术学院北京100049 香港大学物理系中国香港999077 中国原子能科学研究院核物理研究所北京102413 先进能源科学与技术广东省实验室广东惠州516003 上海交通大学物理与天文学院上海200240 中山大学中法核工程与技术学院广东珠海519082 广西师范大学物理科学与技术学院广西桂林541004 北京大学物理学院北京100871 湖州师范学院理学院浙江湖州313000 兰州大学核科学与技术学院兰州730000 复旦大学现代物理研究所上海200433 云南大学物理与天文学院昆明650091 哈尔滨工程大学核安全与仿真技术国防重点学科实验室哈尔滨150001 北京航空航天大学物理科学与核能工程学院北京100191

在兰州重离子研究装置的放射性束流线(HIRFL-RIBLL1)上,使用由三块双面硅微条探测器及环绕它的五个高纯锗探测器组成的探测器阵列,对丰质子核^(29)S的延迟衰变性质展开研究。本次实验获得了^(29)S的半衰期,为183(4)ms。首次实现了^(29)... 详细信息

在兰州重离子研究装置的放射性束流线(HIRFL-RIBLL1)上,使用由三块双面硅微条探测器及环绕它的五个高纯锗探测器组成的探测器阵列,对丰质子核^(29)S的延迟衰变性质展开研究。本次实验获得了^(29)S的半衰期,为183(4)ms。首次实现了^(29)S的延迟测量,准确地获得了4条射线,得到了通过衰变布居到子核^(29)P低激发态的衰变分支比,并由此建立了^(29)S的部分衰变纲图。基于实验数据,研究了^(29)S→^(29)P/^(29)Al→^(29)Si镜像衰变过程中的同位旋对称性破缺。

关键词：丰质子核 β衰变半衰期衰变纲图镜像不对称性

Feasibility.and phy.ics potential of detecting ^(8)B solar neutrinos at JUNO

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Chinese Phy.ics C 2021年第2期45卷 93-110页

作者： Angel Abusleme Thomas Adam Shakeel Ahmad Sebastiano Aiello Muhammad Akram Nawab Ali Fengpeng An Guangpeng An Qi An Giuseppe Andronico Nikolay.Anfimov Vito Antonelli Tatiana Antoshkina Burin Asavapibhop João Pedro Athay.e Marcondes de André Didier Auguste Andrej Babic wander Baldini Andrea Barresi Eric Baussan Marco Bellato Antonio Bergnoli Enrico Bernieri David Biare Thilo Birkenfeld Sy.vie Blin David Blum Simon Bly.h Anastasia Bolshakova Mathieu Bongrand Clément Bordereau Dominique Breton Augusto Brigatti Riccardo Brugnera Riccardo Bruno Antonio Budano Max Buesken Mario Buscemi Jose Busto Ily. Butorov Anatael Cabrera Hao Cai Xiao Cai y.nke Cai Zhiy.n Cai Antonio Cammi Agustin Campeny.Chuany. Cao Guofu Cao Jun Cao Rossella Caruso Cédric Cerna Jinfan Chang y.n Chang Pingping Chen Po-An Chen Shaomin Chen Shenjian Chen Xurong Chen y.-wen Chen y.xue Chen y. Chen Zhang Chen Jie Cheng y.ping Cheng Alexander Chepurnov Davide Chiesa Pietro Chimenti Artem Chukanov Anna Chuvashova Gérard Claverie Catia Clementi Barbara Clerbaux Selma Conforti Di Lorenzo Daniele Corti Salvatore Costa Flavio Dal Corso Christophe De La Taille Jiawei Deng Zhi Deng Ziy.n Deng wilfried Depnering Marco Diaz Xuefeng Ding y.y.n Ding Bay. Dirgantara Sergey.Dmitrievsky.Tadeas Dohnal Georgy.Donchenko Jianmeng Dong Damien Dornic Evgeny.Doroshkevich Marcos Dracos Frédéric Druillole Shuxian Du Stefano Dusini Martin Dvorak Timo Enqvist Heike Enzmann Andrea Fabbri Lukas Fajt Donghua Fan Lei Fan Can Fang Jian Fang Marco Fargetta Anna Fatkina Dmitry.Fedoseev Vladko Fekete Li-Cheng Feng Qichun Feng Richard Ford Andrey.Formozov Amélie Fournier Haonan Gan Feng Gao Alberto Garfagnini Alexandre Göttel Christoph Genster Marco Giammarchi Agnese Giaz Nunzio Giudice Franco Giuliani Maxim Gonchar Guanghua Gong Hui Gong Oleg Gorchakov y.ri Gornushkin Marco Grassi Christian Grewing Maxim Gromov Vasily.Gromov Minghao Gu Xiaofei Gu y. Gu Mengy.n Guan Nunzio Guardone Maria Gul Cong Guo Jingy.an Guo wanlei Guo Xinheng Guo y.hang Guo Paul Hackspacher Caren Hagner Ran Han y.n y.revan Phy.ics Institute YerevanArmenia UniversitéLibre de Bruxelles BrusselsBelgium Universidade Estadual de Londrina LondrinaBrazil Pontificia Universidade Catolica do Rio de Janeiro RioBrazil Pontificia Universidad Católica de Chile SantiagoChile Universidad Tecnica Federico Santa Maria ValparaisoChile Beijing Institute of Spacecraft Environment Engineering BeijingChina Beijing Normal University BeijingChina China Institute of Atomic Energy BeijingChina Institute of High Energy.Phy.ics BeijingChina North China Electric Power University BeijingChina School of Phy.ics Peking UniversityBeijingChina Tsinghua University BeijingChina University.of Chinese Academy.of Sciences BeijingChina Jilin University ChangchunChina College of Electronic Science and Engineering National University of Defense TechnologyChangshaChina Chongqing University ChongqingChina Dongguan University.of Technology DongguanChina Jinan University GuangzhouChina Sun y.t-Sen University GuangzhouChina Harbin Institute of Technology HarbinChina University.of Science and Technology.of China HefeiChina The Radiochemistry.and Nuclear Chemistry.Group in University.of South China HengyangChina wuy. University JiangmenChina Shandong University JinanChina Institute of Modern Phy.ics Chinese Academy of SciencesLanzhouChina Nanjing University NanjingChina Guangxi University NanningChina East China University.of Science and Technology ShanghaiChina School of Phy.ics and Astronomy Shanghai Jiao Tong UniversityShanghaiChina Tsung-Dao Lee Institute Shanghai Jiao Tong UniversityShanghaiChina Institute of Hy.rogeology.and Environmental Geology Chinese Academy of Geological SciencesShijiazhuangChina Nankai University TianjinChina wuhan University WuhanChina Xi’an Jiaotong University Xi’anChina Xiamen University XiamenChina School of Phy.ics and Microelectronics Zhengzhou UniversityZhengzhouChina Institute of Phy.ics National Chiao-Tung University Hsinchu National United University Miao-Li Department of Phy.ics National T

The Jiangmen Underground Neutrino Observatory.JUNO)features a 20 kt multi-purpose underground liquid scintillator sphere as its main *** of JUNO's features make it an excellent location for^8B solar neutrino measurements,such as its low-energy.threshold,high energy.resolution compared with water Cherenkov detectors,and much larger target mass compared with previous liquid scintillator *** this paper,we present a comprehensive assessment of JUNO's potential for detecting^8B solar neutrinos via the neutrino-electron elastic scattering process.A reduced 2 MeV threshold for the recoil electron energy.is found to be achievable,assuming that the intrinsic radioactive background^(238)U and^(232)Th in the liquid scintillator can be controlled to 10^(-17)g/*** ten y.ars of data acquisition,approximately.60,000 signal and 30,000 background events are *** large sample will enable an examination of the distortion of the recoil electron spectrum that is dominated by.the neutrino flavor transformation in the dense solar matter,which will shed new light on the inconsistency.between the measured electron spectra and the predictions of the standard three-flavor neutrino oscillation *** m^(2)_(21)=4.8times10^(-5);(7.5times10^(-5))eV^(2),JUNO can provide evidence of neutrino oscillation in the Earth at approximately.the 3sigma(2sigma)level by.measuring the non-zero signal rate variation with respect to the solar zenith ***,JUNO can simultaneously.measureDelta m^2_(21)using^8B solar neutrinos to a precision of 20% or better,depending on the central value,and to sub-percent precision using reactor antineutrinos.A comparison of these two measurements from the same detector will help understand the current mild inconsistency.between the value of Delta m^2_(21)reported by.solar neutrino experiments and the KamLAND experiment.

关键词： neutrino oscillation solar neutrino JUNO