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Gene replacement therapy in Bietti crystalline corneoretinal dystrophy:an open-label,single-arm,exploratory trial

Signal Transduction and Targeted Therapy 2024年第5期9卷 2275-2284页

作者： Jinyuan Wang Jinlu Zhang shicheng yu Hongyan Li Shaohong Chen Jingting Luo Haibo Wang yuxia Guan Haihan Zhang Shiyi Yin Huili Wang Heping Li Junle Liu Jingyuan Zhu Qiong Yang Ying Sha Chuan Zhang yuhang Yang Xuan Yang Xifang Zhang Xiuli Zhao Likun Wang Liping Yang Wenbin Wei Beijing Tongren Eye Center Beijing Key Laboratory of Intraocular Tumor Diagnosis and TreatmentBeijing Ophthalmology&Visual Sciences Key LabMedical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information TechnologyBeijing Tongren HospitalCapital Medical University100730 BeijingChina School of Clinical Medicine Tsinghua University100084 BeijingChina Chigenovo Co. Ltd.102206 BeijingChina Department of Ophthalmology Peking University Third HospitalBeijing Key Laboratory of Restoration of Damaged Ocular NervePeking University Third Hospital100191 BeijingChina Department of Ophthalmology The Third People’s Hospital of Dalian116091 DalianChina Department of Biomedical Informatics School of Basic Medical SciencesPeking University Health Science Center100191 BeijingChina Institute of Systems Biomedicine Department of PathologySchool of Basic Medical SciencesPeking University Health Science Center100191 BeijingChina

Bietti crystalline corneoretinal dystrophy is an inherited retinal disease caused by mutations in CYP4V2,which results in blindness in the working-age population,and there is currently no available ***,we report the results of the first-in-human clinical trial(NCT04722107)of gene therapy for Bietti crystalline corneoretinal dystrophy,including 12 participants who were followed up for 180-365 *** open-label,single-arm exploratory trial aimed to assess the safety and efficacy of a recombinant adeno-associated-virus-serotype-2/8 vector encoding the human CYP4V2 protein(rAAV2/8-hCYP4V2).Participants received a single unilateral subretinal injection of 7.5×10^(10)vector genomes of rAAV2/***,73 treatment-emergent adverse events were reported,with the majority(98.6%)being of mild or moderate intensity and considered to be procedure-or corticosteroid-related;no treatment-related serious adverse events or local/systemic immune toxicities were *** with that measured at baseline,77.8%of the treated eyes showed improvement in best-corrected visual acuity(BCVA)on day 180,with a mean±standard deviation increase of 9.0±10.8 letters in the 9 eyes analyzed(p=0.021).By day 365,80%of the treated eyes showed an increase in BCVA,with a mean increase of 11.0±10.6 letters in the 5 eyes assessed(p=0.125).Importantly,the patients’improvement observed using multifocal electroretinogram,microperimetry,and Visual Function Questionnaire-25 further supported the beneficial effects of the *** conclude that the favorable safety profile and visual improvements identified in this trial encourage the continued development of rAAV2/8-hCYP4V2(named ZVS101e).

关键词： cor dystrophy crystalline

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孟德尔随机化分析在结直肠癌血液标志物遗传背景研究中的应用

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遗传 2024年第10期46卷 833-848页

作者：万欣坤虞诗诚梅松青钟雯华中科技大学生命科学与技术学院武汉430074 广州国家实验室广州510005 广州医科大学附属肿瘤医院广州511436

结直肠癌(colorectal cancer,CRC)是一种发生在结肠和直肠的消化道癌症,是全球第三常见癌症,也是癌症相关死亡的第二大原因。CRC的早期发现对于预防转移、降低死亡率、改善预后和提高患者生活质量至关重要。遗传因素在CRC的发生中扮演... 详细信息

结直肠癌(colorectal cancer,CRC)是一种发生在结肠和直肠的消化道癌症,是全球第三常见癌症,也是癌症相关死亡的第二大原因。CRC的早期发现对于预防转移、降低死亡率、改善预后和提高患者生活质量至关重要。遗传因素在CRC的发生中扮演重要角色,可解释高达35%的疾病风险。全基因组关联研究已发现多个与CRC风险相关的遗传位点,但缺乏直接因果关系的证据。虽然传统的血液标志物如癌胚抗原(carcinoem-bryonic antigen,CEA)和糖类抗原19-9(CA19-9)已被广泛用于CRC诊断和监测,但在早期诊断应用中的灵敏度和准确性有限,仍需要开发新的能够反映遗传背景的生物标志物或其组合,以促进早期诊断和提高诊断准确性。同时,理解这些生物标志物的遗传机制对于揭示CRC的发病机制至关重要,并有助于开发更加精准的个体化治疗策略。孟德尔随机化(Mendelian randomization,MR)分析作为一种新兴的流行病学工具,通过减少观察性研究中存在的偏差问题,能够更精确地评估遗传变异与疾病间的因果关系。目前,MR分析已被用于评估多种血液标志物对CRC风险的因果影响,可更准确地表明血液标志物与CRC发病机制之间的潜在因果关系。本文综述了MR分析在CRC血液标志物研究中的应用,旨在为CRC的早期诊断和个体化治疗提供理论基础。

关键词：结直肠癌孟德尔随机化工具变量遗传因素生物标志物早期诊断

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Surveillance of Hand,Foot,and Mouth Disease in China's Mainland (2008-2009)

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Biomedical and Environmental Sciences 2011年第4期24卷 349-356页

作者： ZHU Qi HAO yuanTao MA JiaQi yu shicheng WANG yu Department of Medical Statistics and Epidemiology School of Public Health Sun Yat-Sen UniversityGuangzhou 510080 Guangdong China Chinese Center for Disease Control and Prevention Beijing 102206 China

Objective Since HFMD was designated as a class C communicable disease in May 2008,18 months surveillance data have been accumulated to December *** article was to describe the distribution of HFMD for age,sex,area,and time between 2008 and 2009,to reveal the characteristics of the *** We analyzed weekly reported cases of HFMD from May 2008 to December 2009,and presented data on the distribution of age,sex,area and time.A discrete Poisson model was used to detect spatial-temporal clusters of *** More than 1 065 000 cases of HFMD were reported in China's Mainland from May 2008 to December 2009 （total incidence：12.47 per 10 000）.Male incidence was higher than female for all ages and 91.9% of patients were 5 years *** incidence was highest in Beijing,Shanghai,Zhejiang and *** highest peak of HFMD cases was in April and the number of cases remained high from April to *** spatial-temporal distribution detected four *** Children 5 years old were susceptible to HFMD and we should be aware of their *** incidence was higher in urban than rural areas,and an annual pandemic usually starts in April.

关键词： Hand foot and mouth disease China's Mainland Surveillance Epidemiologic features

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Comparing COVID-19 Case Prediction Between ARIMA Model and Compartment Model—China,December 2019–April 2020

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China CDC weekly 2022年第52期4卷 1185-1188,I0006-I0010页

作者： Bangguo Qi Nankun Liu shicheng yu Feng Tan Chinese Center for Disease Control and Prevention BeijingChina.

Introduction:To compare the performance between the compartment model and the autoregressive integrated moving average(ARIMA)model that were applied to the prediction of new infections during the coronavirus disease 2019(COVID-19)***:The compartment model and the ARIMA model were established based on the daily cases of new infection reported in China from December 2,2019 to April 8,*** goodness of fit of the two models was compared using the coefficient of determination(R2).Results:The compartment model predicts that the number of new cases without a cordon sanitaire,i.e.,a restriction of mobility to prevent spread of disease,will increase exponentially over 10 days starting from January 23,2020,while the ARIMA model shows a linear *** calculated R2 of the two models without cordon sanitaire were 0.990 and *** prediction results of the ARIMA model after February 2,2020 have a large *** R2 of complete transmission process fit of the epidemic for the 2 models were 0.964 and 0.933,***:The two models fit well at different stages of the *** predictions of compartment model were more in line with highly contagious transmission characteristics of *** accuracy of recent historical data had a large impact on the predictions of the ARIMA model as compared to those of the compartment model.&Joint first authors.

关键词： ARIMA prediction starting

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Combined quantitative microscopy on the microstructure and phase evolution in Li1.3Al0.3Ti1.7(PO4)3 ceramics

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Journal of Advanced Ceramics 2020年第2期9卷 149-161页

作者： Deniz Cihan GUNDUZ Roland SCHIERHOLZ shicheng yu Hermann TEMPELa Hans KUNGL Rudiger-AEICHEL Forschungszentrum Jülich Institute of Energy and Climate Research(IEK-9:Fundamental Electrochemistry)Julich D-52425Germany Forschungszentrum Julich Institute of Energy and Climate Research(IEK-12:Helmholtz-Institute Münster:Ionics in Energy Storage)Munster D-48149Germany RWTH Aachen University Institute of Physical ChemistryAachen D-52074Germany

Lithium aluminum titanium phosphate(LATP)is one of the materials under consideration as an electrolyte in future all-solid-state lithium-ion *** ceramic processing,the presence of secondary phases and porosity play an important *** a presence of more than one secondary phase and pores,image analysis must tackle the difficulties about distinguishing between these microstructural *** this study,we study the phase evolution of LATP ceramics sintered at temperatures between 950 and 1100℃by image segmentation based on energy-dispersive X-ray spectroscopy(EDS)elemental maps combined with quantitative analysis of LATP *** found aluminum phosphate(AlPO4)and another phosphate phase((Lix)PyOz).The amount of these phases changes with sintering ***,since the grains act as an aluminum source for AlPO4 formation,the aluminum content in the LATP grains ***,the amount of secondary phase changes from more(Lix)PyOz at 950℃to mainly AlPO4 at 1100℃sintering *** also used scanning electron microscopy(SEM)and confocal laser scanning microscopy(CLSM)to study the evolution of the LATP grains and AlPO4,and LATP grain size increases with sintering *** addition,transmission electron microscopy(TEM)was used for the determination of grain boundary width and to identify the amorphous structure of AlPO4.

关键词： lithium aluminum titanium phosphate(LATP) microstructure quantitative microscopy grain size confocal laser scanning microscopy(CLSM) NASICON

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Professor Jian Lu’s Interdisciplinary Approach to Modeling the COVID-19 Pandemic

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China CDC weekly 2020年第27期2卷 511-513页

作者： Peter Hao shicheng yu yu Chen Feng Tan Chinese Center for Disease Control and Prevention BeijingChina National Institute of Environmental Health Chinese Center for Disease Control and PreventionBeijingChina

Editorial Our new column Insights is an ongoing series of interviews prepared by the China CDC Weekly team with researchers,policymakers,experts,and other leaders that strives to disseminate experiences,knowledge,and perspectives in global and public health with a wider *** the discretion of the Weekly’s team,these interviews will be written into articles,shared as videos,and/or presented as transcripts to best promote plain-language principles and to ease understanding of non-specialized academic readers.

关键词： dis ongoing specialized

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Incidence Tendency Analysis on Type 2 Diabetes in 4 Asian Countries—China,Malaysia,Singapore,and Thailand,1990–2019

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China CDC weekly 2021年第52期3卷 1113-1117页

作者： Wenhui Shi Qiqi Wang Jiaojiao Zhang Jingwen Zhang Feng Tan shicheng yu Division of Non-communicable Diseases and Elderly Health Management Chinese Center for Disease Control and PreventionBeijingChina Office of Epidemiology Chinese Center for Disease Control and PreventionBeijingChina Institute of Infectious Diseases Beijing Center for Disease Control and PreventionBeijingChina Shijiazhuang Finance Bureau of Hebei Province ShijiazhuangHebeiChina Division of Academic Publishing Management Chinese Center for Disease Control and PreventionBeijingChina.

Summary What is already known about this topic?Roughly 80%of the global disease burden caused by diabetes comes from low-and-middle income countries,and 60%of diabetics are located in Asia;6 of the top 10 countries with the highest prevalence of diabetes are in *** is added by this report?Compared with 1990,the growth rate of the standardized incidence rate of type 2 diabetes in 2019 in China was significantly lower than that of the entire world,while Malaysia,Singapore.

关键词： Diabetes income Singapore

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The Health Demands of Designated Drivers-Four Cities,China,2019

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China CDC weekly 2022年第20期4卷 426-430页

作者： Meng Zhang Qiqi Wang Hongyan Yao Xiao Qi shicheng yu Jianjun Liu Office of Epidemiology Chinese Center for Disease Control and PreventionBeijingChina Chinese Center for Disease Control and Prevention BeijingChina

Summary What is already known about this topic?The health status of designated drivers is largely associated with road safety,which is a major public health ***,few studies have focused on the health demands of designated *** is added by this report?This study investigated the health consciousness,first aid knowledge learning,acceptable ways to acquire health knowledge,and willingness to have physical examinations for designated drivers to provide suggestions for improving their health *** are the implications for public health practice?The industry and platform should provide scientific and reasonable guidance on healthy lifestyles for designated drivers and implement physical examinations to monitor their health status.

关键词： designated knowledge consciousness

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Application of Disability-Adjusted Life Years to Evaluate the Burden and Trend of Tuberculosis — China, 1990–2019

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China CDC weekly 2022年第11期4卷 220-225页

作者： Zhe Dong Qiqi Wang shicheng yu Jianjun Liu Hui Zhang Fei Huang Hongyan Yao Chinese Center for Disease Control and Prevention BeijingChina

Summary What is already known about this topic?China is a country with a high burden of tuberculosis(TB).However,the evaluation of TB burden is usually based on traditional epidemiological indicators,and disability-adjusted life year(DALY)is rarely *** is added by this report?In China,the number of DALYs caused by TB in 2019 was estimated to be 1.36 million,and the agestandardized rate(ASR)was 86.46/100,*** DALYs of TB decreased significantly from 1990 to 2019,with the largest decline from 2001 to *** burden is higher among men than women,and the highest among the *** are the implications for public health practice?Application of DALYs can reflect the damage in health to China’s residents caused by *** the future,we should strengthen research,monitor years lived with disability(YLDs),and reduce the burden of the elderly and ***-effective analysis based on DALYs should be conducted to provide a scientific basis for decision-making.

关键词： Application burden elderly

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中国5~<15岁儿童意外跌落与意外中毒和烧烫伤死亡轨迹模型分析

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中国预防医学杂志 2024年第3期25卷 307-312页

作者：潘晓樱王琦琦李俊琦于石成吴息凤浙江大学公共卫生学院大数据健康科学系浙江杭州310058 中国疾病预防控制中心流行病学办公室浙江大学医学院附属第二医院临床大数据与统计中心浙江省智能预防医学重点实验室

目的分析2005-2021年中国5~<15岁儿童意外跌落、意外中毒和烧烫伤伤害死亡率的轨迹和变化趋势。方法基于2005-2021年中国死因监测数据集,采用Joinpoint模型分析中国5~<15岁儿童意外跌落、意外中毒和烧烫伤的整体死亡率变化趋势,计算... 详细信息

目的分析2005-2021年中国5~<15岁儿童意外跌落、意外中毒和烧烫伤伤害死亡率的轨迹和变化趋势。方法基于2005-2021年中国死因监测数据集,采用Joinpoint模型分析中国5~<15岁儿童意外跌落、意外中毒和烧烫伤的整体死亡率变化趋势,计算平均年度变化百分比(average annual percent change,AAPC);将数据按区域、城乡、性别和年龄分层后,应用SAS 9.4统计软件中的Proc traj程序拟合5~<15岁儿童意外跌落、意外中毒和烧烫伤死亡率轨迹模型。结果 2005-2021年中国5~<15岁儿童意外跌落死亡率总体呈上升趋势(AAPC=0.71%,P=0.235);意外中毒和烧烫伤呈下降趋势(AAPC=-2.96%、-2.50%,P=0.014、0.081)。女性意外跌落死亡率呈上升趋势(AAPC=3.11%);10~<15岁儿童意外跌落呈上升趋势(AAPC=3.94%)。轨迹模型行分析结果显示:意外跌落轨迹模型根据拟合结果分为3组,组1呈现下降趋势,集中在5~<15岁西部男孩;组2呈上升趋势但差异无统计学意义;组3呈上升趋势,包含除5~<10岁东部城市男孩外的东部儿童、中部女孩和10~<15岁西部城市女孩。意外中毒轨迹模型分为两组,组1先升后降(P<0.01),包含东部所有儿童、除10~<15岁中部城市女孩外的中部城市儿童,以及5~<10岁西部城市男孩和5~<10岁中部农村女孩;组2线性下降(P=0.013),包含除5~<10岁西部城市男孩外的西部儿童、除5~<10岁中部农村女孩外的农村中部儿童,以及10~<15岁中部城市女孩。在烧烫伤轨迹模型中,组1上升趋势随年份逐渐升高(P=0.005),包含5~<10岁西部城市男孩和10~<15东中西部城市女孩,组2上升较缓(P=0.587)。结论在意外跌落Joinpoit模型中,女性和10~<15岁儿童死亡率存在上升趋势,是公共卫生防控的重点人群和年龄组。意外跌落轨迹模型中组别3和烧烫伤轨迹模型中组别1的死亡率呈指数上升趋势,应寻找原因,加强防控。

关键词：意外中毒意外跌落烧烫伤死亡率轨迹模型

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