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Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation

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Chinese Medical Journal 2023年第17期136卷 2110-2112页

作者： Haoling Cheng Dianfu Chen zhiying wu Ning Wang Department of Neurology First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350005China Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhouZhejiang 310000China Fujian Key Laboratory of Molecular Neurology Fujian Medical UniversityFuzhouFujian 350005China

To the Editor:Cockayne syndrome(CS;Mendelian Inheritance in Man#133540,216400)is a rare autosomal recessive neurodegenerative disorder described by Edward Cockayne in 1936.[1]The prevalence of CS is 2.7 per million live births,[2]and the disease is probably underdiagnosed.The major clinical features are progressive growth failure and microcephaly as well as other characteristics such as a“cachectic dwarfism”appearance with sunken eyes,cutaneous photosensitivity,mental retardation,demyelinating peripheral neuropathy,pigmentary retinopathy,cataracts,deafness,dental anomalies,and premature death.[1,3]There is considerable variation in the severity of the disorder,leading to classification into three main types.

关键词： dwarf analysis retardation

Pyrotinib and chrysin synergistically potentiate autophagy in HER2-positive breast cancer

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Signal Transduction and Targeted Therapy 2024年第1期9卷 295-307页

作者： Xiaoxiao Liu Xing Zhang zhiying Shao Xiaorong Zhong Xin Ding Liang wu Jie Chen Ping He Yan Cheng Kunrui Zhu Dan Zheng Jing Jing Ting Luo Institute for Breast Health Medicine Cancer CenterBreast CenterWest China HospitalSichuan University610041 ChengduSichuanChina Department of Radiation Oncology Cancer CenterAffiliated Hospital of Xuzhou Medical UniversityJiangsu Center for the Collaboration and Innovation of Cancer BiotherapyCancer InstituteXuzhou Medical University221000 XuzhouChina Department of Orthopedics Trauma and Reconstructive SurgeryUniversity Hospital RWTH AachenAachen 52074Germany Cancer Institute Xuzhou Medical University221000 XuzhouJiangsuChina Division of Nephrology and Transplantation Department of Internal MedicineUniversity Medical Center Rotterdam Erasmus MCRotterdam 3015 GDThe Netherlands Institute for Breast Health Medicine Department of General SurgeryBreast CenterWest China HospitalSichuan University610041 ChengduSichuanChina Institute for Breast Health Medicine West China HospitalSichuan University610041 ChengduSichuanChina

Human epidermal growth factor receptor 2(HER2)-positive breast cancer(BC)has been the most challenging subtype of BC,consisting of 20%of BC with an apparent correlation with poor prognosis.Despite that pyrotinib,a new HER2 inhibitor,has led to dramatic improvements in prognosis,the efficacy of pyrotinib monotherapy remains largely restricted due to its acquired resistance.Therefore,identifying a new potential antitumor drug in combination with pyrotinib to amplify therapeutic efficacy is a pressing necessity.Here,we reported a novel combination of pyrotinib with chrysin and explored its antitumor efficacy and the underlying mechanism in HER2-positive BC.We determined that pyrotinib combined with chrysin yielded a potent synergistic effect to induce more evident cell cycle arrest,inhibit the proliferation of BT-474 and SK-BR-3 BC cells,and repress in vivo tumor growth in xenograft mice models.This may be attributed to enhanced autophagy induced by endoplasmic reticulum stress.Furthermore,the combined treatment of pyrotinib and chrysin induced ubiquitination and glucose-6-phosphate dehydrogenase(G6PD)degradation by upregulating zinc finger and BTB/POZ domain-containing family protein 16(ZBTB16)in tumorigenesis of BC.Mechanistically,we identified that miR-16-5p was a potential upstream regulator of ZBTB16,and it showed a significant inverse correlation with ZBTB16.Inhibition of miR-16-5p overexpression by restoring ZBTB16 significantly potentiated the overall antitumor efficacy of pyrotinib combined with chrysin against HER2-positive BC.Together,these findings demonstrate that the combined treatment of pyrotinib and chrysin enhances autophagy in HER2-positive BC through an unrecognized miR-16-5p/ZBTB16/G6PD axis.

关键词： HER2 synergistic Together

Strengthening poly(2-hydroxyethyl methacrylate) hydrogels using biochars and hydrophobic aggregations

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International Journal of Smart and Nano Materials 2022年第4期13卷 561-574页

作者： Ping Zhang Ziyi Xu zhiying wu Ping Xu Canhui Yang Shenzhen Key Laboratory of Soft Mechanics&Smart Manufacturing Department of Mechanics and Aerospace EngineeringSouthern University of Science and TechnologyShenzhenP.R.China Department of Chemistry City University of Hong KongHong KongP.R.China Department of Respiratory and Critical Care Medicine Peking University Shenzhen HospitalShenzhenGuangdongP.R.China

As the first version of synthetic hydrogel,poly(2-hydroxyethyl methacrylate)hydrogels have found broad applications.However,their poor mechanical performances have been longstanding hurdles for practical deployments.Herein,we report on strengthening the poly(2-hydroxyethyl methacrylate)hydro-gels with biochar nanoparticles and hydrophobic aggregations,which are induced by solvent exchange and reinforced by freeze-thaw.Both the vast anchoring points on the multifunc-tional surfaces of the biochar nanoparticles and the aggregates formed between poly(2-hydroxyethyl methacrylate)chains engender strong and dissipative physical crosslinks.The result-ing hydrogels exhibit marked mechanical properties,encom-passing high stretchability~7,high fracture toughness~1360 J m−2,high elastic modulus~180 kPa,low friction coefficient~0.2,self-recovery,and non-swellability.Furthermore,we demonstrate the versatility of the proposed strategy by using water/ionic liquid binary solvent as the sol-vent system,Laponite as the nano-reinforcement,and dryanneal as the hydrophobic aggregation enhancer to synthesize mechanically robust hydrogels.Poly(2-hydroxyethyl methacry-late)hydrogels of superior mechanical properties are expected to enable previously inaccessible applications in biomedicine and engineering.

关键词： Hydrogel PHEMA mechanical properties biochar hydrophobic aggregation

Development of a droplet digital polymerase chain reaction assay for the sensitive detection of total and integrated HIV-1 DNA

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Chinese Medical Journal 2024年第6期137卷 729-736页

作者： Lin Yuan zhiying Liu Xin Zhang Feili Wei Shan Guo Na Guo Lifeng Liu Zhenglai Ma Yunxia Ji Rui Wang Xiaofan Lu Zhen Li Wei Xia Hao wu Tong Zhang Bin Su Beijing Key Laboratory for HIV/AIDS Research Clinical and Research Center for Infectious DiseasesBeijing Youan HospitalCapital Medical UniversityBeijing 100069China Beijing Institute of Hepatology Beijing Youan HospitalCapital Medical UniversityBeijing 100069China

Background:Total human immunodeficiency virus(HIV)DNA and integrated HIV DNA are widely used markers of HIV persistence.Droplet digital polymerase chain reaction(ddPCR)can be used for absolute quantification without needing a standard curve.Here,we developed duplex ddPCR assays to detect and quantify total HIV DNA and integrated HIV DNA.Methods:The limit of detection,dynamic ranges,sensitivity,and reproducibility were evaluated by plasmid constructs containing both the HIV long terminal repeat(LTR)and human CD3 gene(for total HIV DNA)and ACH-2 cells(for integrated HIV DNA).Forty-two cases on stable suppressive antiretroviral therapy(ART)were assayed in total HIV DNA and integrated HIV DNA.Correlation coefficient analysis was performed on the data related to DNA copies and cluster of differentiation 4 positive(CD4^(+))T-cell counts,CD8^(+)T-cell counts and CD4/CD8 T-cell ratio,respectively.The assay linear dynamic range and lower limit of detection(LLOD)were also assessed.Results:The assay could detect the presence of HIV-1 copies 100%at concentrations of 6.3 copies/reaction,and the estimated LLOD of the ddPCR assay was 4.4 HIV DNA copies/reaction(95%confidence intervals[CI]:3.6-6.5 copies/reaction)with linearity over a 5-log_(10)-unit range in total HIV DNA assay.For the integrated HIV DNA assay,the LLOD was 8.0 copies/reaction(95%CI:5.8-16.6 copies/reaction)with linearity over a 3-log 10-unit range.Total HIV DNA in CD4^(+)T cells was positively associated with integrated HIV DNA(r=0.76,P<0.0001).Meanwhile,both total HIV DNA and integrated HIV DNA in CD4^(+)T cells were inversely correlated with the ratio of CD4/CD8 but positively correlated with the CD8^(+)T-cell counts.Conclusions:This ddPCR assay can quantify total HIV DNA and integrated HIV DNA efficiently with robustness and sensitivity.It can be readily adapted for measuring HIV DNA with non-B clades,and it could be beneficial for testing in clinical trials.

关键词： Human immunodeficiency virus HIV Integrated HIV-1 DNA Total HIV DNA Droplet digital polymerase chain reaction HIV reservoir Antiretroviral therapy

Recyclingg plastic Waste into multifunctional superhydrophobic textiles

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Nano Research 2022年第11期15卷 9921-9925页

作者： Qinglang Ma zhiying wu Vlad Andrei Neacșu Sai Zhao Yu Chai Hua Zhang Frontiers Science Center for High Energy Material Beijing Key Laboratory of Photoelectronic/Electrophotonic Conversion MaterialsKey Laboratory of Cluster ScienceMinistry of EducationAdvanced Research Institute of Multidisciplinary ScienceSchool of Chemistry and Chemical EngineeringBeijing Institute of TechnologyBeijing 100081China Department of Chemistry City University of Hong KongHong Kong 999077China Hong Kong Branch of National Precious Metals Material Engineering Research Center(NPMM) City University of Hong KongHong Kong 999077China Shenzhen Research Institute City University of Hong KongShenzhen 518057China Center for Programmable Materials School of Materials Science and EngineeringNanyang Technological University50 Nanyang AvenueSingapore 639798Singapore Department of Physics City University of Hong KongHong Kong 999077China

The plastic pollution has become one of the top environmental concerns.Substantial effort has been devoted into recycling waste plastic materials in a facile and economical way.In this work,we have successfully recycled a common type of plastic waste,i.e.,polystyrene(PS),into value-added functional materials through a cost-effective and facile dip-coating method.The resulted mixture of waste PS and SiO_(2),referred to as PS/SiO_(2),coated textile material is superhydrophobic and superoleophilic,showing an excellent resistance towards corrosive solutions(acid,alkaline,and saline),high temperature treatment,and mechanical abrasion.As a proof-of-concept application,the PS/SiO_(2)-coated textile is used to selectively separate oil/water mixtures through either absorption or filtration method.It also exhibits a surface self-cleaning property,which may be used as fabrics for dust-preventing cloths.Our work offers a new strategy to treat the waste for preparation of novel low-cost superhydrophobic materials for various applications.

关键词： waste recycling superhydrophobic oil water separation self-cleaning

近二十年中国档案事业发展注意力变迁研究——基于“十五”至“十四五”全国档案事业发展规划文本的分析

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档案学研究 2024年第2期 22-29页

作者：连志英陈怡王锦文余敏吴雅怡中国人民大学信息资源管理学院北京100872 陕西省高级人民法院西安710061

档案事业发展存在注意力分配问题,不同时期档案事业发展的注意力会有所不同。基于对2000年以来我国颁布的五份全国档案事业发展规划文本的体裁分析、词频分析和内容分析,发现过去二十年中国档案事业发展注意力由档案管理转向档案治理,... 详细信息

档案事业发展存在注意力分配问题,不同时期档案事业发展的注意力会有所不同。基于对2000年以来我国颁布的五份全国档案事业发展规划文本的体裁分析、词频分析和内容分析,发现过去二十年中国档案事业发展注意力由档案管理转向档案治理,由档案法制建设转向档案法治,由参与型和引入型档案外事工作转向引领型和输出型档案对外交流与合作。而“档案资源建设”“档案信息化建设”“档案科技工作”“档案人才队伍建设”“档案利用服务”及“档案安全保管与保护”等主题始终是档案事业发展注意力所在,但不同时期档案事业发展决策主体对这些主题的注意力有所变化,总的趋势是促使档案事业走向治理、开放和现代化。

关键词：注意力档案事业全国档案事业发展规划 “十四五”规划

An amphiphilic molecule with a single fluorophore exhibits multiple stimuli-responsive behavior

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Chinese Chemical Letters 2023年第11期34卷 159-162页

作者： Dongxing Ren Lu Tang zhiying wu Qiaona Zhang Tangxin Xiao Robert B.P.Elmes Leyong Wang School of Petrochemical Engineering Changzhou UniversityChangzhou 213164China Department of Chemistry Maynooth UniversityNational University of IrelandMaynoothCo.KildareIreland Jiangsu Key Laboratory of Advanced Organic Materials School of Chemistry and Chemical EngineeringNanjing UniversityNanjing 210023China

Fluorescent materials that respond to multiple stimuli have broad applications ranging from sensing and bioimaging to information encryption.Herein,we report the design and synthesis of a single-fluorophorebased amphiphile DCSO,which shows temperature-,solvent-,humidity-,and radiation-dependent fluorescence.DCSO consists of a dicyanostilbene(DCS)group as a rigid hydrophobic core with oligo(ethylene glycol)(OEG)chains at both ends as a flexible hydrophilic periphery.The DCS group acts as a highly efficient fluorophore,while the OEG chain endows the molecule with thermo-responsiveness.Fluorescent colors can vary from blue to green to yellow in response to external stimuli.On the basis of light radiation,we demonstrate that this system can be applied to time-dependent information encryption,in which the correct information can only be read at a specific time under irradiation.This work further demonstrates the usefulness and application of single-fluorophore-based luminescent materials with multiple stimuli-responsive functions.

关键词： Self-assembly Multi-responsive fluorescence Single fluorophore Information encryption Smart materials

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金属橡胶-聚氨酯复合材料减振性能研究

材料导报 2024年第6期38卷 267-273页

作者：郑孝源任志英吴乙万白鸿柏黄健萌谭桂斌福州大学机械工程及自动化学院金属橡胶与振动噪声研究所福州350116 广东工业大学机电工程学院广州510006

针对单一减振材料无法兼具高阻尼与高刚度的弊端,本工作提出了一种新的复合材料,即将三维空间网状结构的金属橡胶(EMWM)作为基体,聚氨酯(PU)作为增强体,并采用真空渗流的方式制备了具有高阻尼与高刚度的金属橡胶-聚氨酯(EMWM-PU)复合材... 详细信息

针对单一减振材料无法兼具高阻尼与高刚度的弊端,本工作提出了一种新的复合材料,即将三维空间网状结构的金属橡胶(EMWM)作为基体,聚氨酯(PU)作为增强体,并采用真空渗流的方式制备了具有高阻尼与高刚度的金属橡胶-聚氨酯(EMWM-PU)复合材料。通过EMWM与EMWM-PU复合材料的准静态压缩试验,发现界面摩擦的引入使得EMWM-PU复合材料的耗能与刚度特性得到显著提升。此外搭建了复合材料管路减振测试平台,以平均振动加速度级和插入损失作为评价指标,研究了EMWM密度、激振量级、安装时的预紧间距对管路减振性能的影响。结果表明,EMWM-PU复合材料在5~1 000 Hz频段范围内均具有优异的减振效果,且复合材料中基体材料EMEM的密度越小、安装时的预紧间距越大,减振效果越好。本研究有效拓宽了复合材料的应用范围,也为金属橡胶复合材料的设计和应用提供了有效的指导。

关键词：金属橡胶聚氨酯复合材料力学性能管路减振

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板状燃料富集度对燃料性能的影响研究

核技术 2024年第6期47卷 159-167页

作者：岳智瑛贺亚男刘洪权巫英伟章静苏光辉田文喜秋穗正西安交通大学核科学与技术学院陕西省先进核电技术重点实验室西安710049 西安交通大学动力工程多相流国家重点实验室西安710049

核燃料的富集度对燃料性能有着重要的影响。为探究燃料富集度对U3Si2-Al板状燃料性能的影响,本研究基于BEEs-Plates/OpenMC/ZEBRA耦合程序,针对15%、20%和25%富集度的组件开展了中子物理-热工水力-燃料性能耦合计算,并分析了组件平均燃... 详细信息

核燃料的富集度对燃料性能有着重要的影响。为探究燃料富集度对U3Si2-Al板状燃料性能的影响,本研究基于BEEs-Plates/OpenMC/ZEBRA耦合程序,针对15%、20%和25%富集度的组件开展了中子物理-热工水力-燃料性能耦合计算,并分析了组件平均燃耗达125.71 GWd·tU^(-1)时的中子物理参数和燃料性能参数。计算结果表明,燃料组件富集度越高,其体积应变、蠕变应变和塑性应变越大。对中子物理参数的分析结果表明,25%富集度的组件功率密度比15%富集度的组件高出约18%,且富集度越高的组件最大燃耗也越大。对燃料性能参数的分析结果表明,25%富集度的组件塑性应变比15%富集度的组件最大高约40%,说明富集度越高的组件越容易发生失效。

关键词：中子物理热工水力燃料性能 U3Si2-Al燃料多物理场耦合