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A Heterozygous Phospholamban Variant(p.R14del)Leads to Left Ventricular Involvement and Heart Failure Phenotypes in Arrhythmogenic Right Ventricular Cardiomyopathy

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Phenomics 2024年第1期4卷 13-23页

作者： Han Mo Xiumeng Hua Mengni Bao Zhe Sun Xiao Chen Mengda xu Jiangping Song Shenzhen Key Laboratory of Cardiovascular Disease Fuwai Hospital Chinese Academy of Medical SciencesShenzhen 518057China State Key Laboratory of Cardiovascular Disease Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical College167A Beilishi RoadXi Cheng DistrictBeijing 100037China Beijing Key Laboratory of Preclinical Research and Evaluation for Cardiovascular Implant Materials Animal Experimental CentreFuwai HospitalNational Center for Cardiovascular DiseaseChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina

This study aimed to determine the prevalence and clinical features of Arrhythmogenic Right Ventricular Cardiomyopathy(ARVC)caused by pathogenic mutations in the Phospholamban(PLN)*** study included 170 patients who had a confrmed diagnosis of ARVC and underwent PLN genetic screening using next-generation *** fndings of this study provide valuable insights into the association between PLN mutations and ARVC,which can aid in the development of more efective diagnostic and treatment strategies for ARVC *** of the patients evaluated,six had a rare pathogenic mutation in PLN with the same p.R14del *** screening revealed that heterozygous carriers of p.R14del exhibited a defnite ARVC *** clinical studies,individuals with the p.R14del mutation experienced a similar rate of malignant arrhythmia events as those with classic desmosome *** adjusting for covariates,individuals with PLN mutations had a two point one seven times greater likelihood of experiencing transplant-related risks compared to those who did not possess PLN mutations(95%CI 1.08–6.82,p=0.035).The accumulation of left ventricular fat and fbers is a pathological marker for ARVC patients with p.R14del *** a cohort of 170 Chinese ARVC patients,three point fve percent of probands had the PLN pathogenic variant(p.R14del)and all were *** data shows that PLN-related ARVC patients are at high risk for ventricular arrhythmias and heart failure,which requires clinical diferentiation from classic ***,carrying the p.R14del mutation can be an independent prognostic risk factor in ARVC patients.

关键词： Arrhythmogenic right ventricular cardiomyopathy Phospholamban Left ventricular involvement Heart failure Risk stratifcation

Modulation of starch synthesis in Arabidopsis via phytochrome B-mediated light signal transduction

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Journal of Integrative Plant Biology 2024年第5期66卷 973-985页

作者： Qingbiao Shi Ying Xia Na xue Qibin Wang Qing Tao Mingjing Li Di xu Xiaofei Wang Fanying Kong Haisen Zhang Gang Li National Key Laboratory of Wheat Improvement College of Life SciencesShandong Agricultural UniversityTai'an 271018China National Key Laboratory of Wheat Improvement College of AgronomyShandong Agricultural UniversityTai'an 271018China

Starch is a major storage carbohydrate in plants and is critical in crop yield and *** synthesis is intricately regulated by internal metabolic processes and external environmental cues;however,the precise molecular mechanisms governing this process remain largely *** this study,we revealed that high red to far-red(high R:FR)light significantly induces the synthesis of leaf starch and the expression of synthesis-related genes,whereas low R:FR light suppress these *** phytochrome B(phyB),the primary R and FR photoreceptor,was identified as a critical positive regulator in this *** of phyB,basic leucine zipper transcription factor ELONGATED HYPOCOTYL5(HY5)was found to enhance starch synthesis,whereas the basic helix-loop-helix transcription factors PHYTOCHROME INTERACTING FACTORs(PIF3,PIF4,and PIF5)inhibit starch synthesis in Arabidopsis ***,HY5 and PIFs directly compete for binding to a shared G-box cis-element in the promoter region of genes encoding starch synthases GBSS,SS3,and SS4,which leads to antagonistic regulation of their expression and,consequently,starch *** findings highlight the vital role of phyB in enhancing starch synthesis by stabilizing HY5 and facilitating PIFs degradation under high R:FR light ***,under low R:FR light,PIFs predominantly inhibit starch *** study provides insight into the physiological and molecular functions of phyB and its downstream transcription factors HY5 and PIFs in starch synthesis regulation,shedding light on the regulatory mechanism by which plants synchronize dynamic light signals with metabolic cues to module starch synthesis.

关键词： Arabidopsis thaliana HY5 light signal phyB PIFs starch synthesis

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可锻铸铁连接件铸造工艺的优化研究

铸造 2024年第1期73卷 91-97页

作者：周旭莫健李向明李晓东昆明理工大学材料科学与工程学院云南昆明650093 云南云海玛钢有限公司云南玉溪652701

可锻铸铁连接件广泛应用于工业领域和公共交通领域,与其他材质的连接件相比,具有性能优良、易于拆卸等优点。但目前可锻铸铁连接件生产质量不稳定,合格率不能满足要求,存在砂眼、裂纹等缺陷问题。本文针对可锻铸铁连接件进行了铸造工艺... 详细信息

可锻铸铁连接件广泛应用于工业领域和公共交通领域,与其他材质的连接件相比,具有性能优良、易于拆卸等优点。但目前可锻铸铁连接件生产质量不稳定,合格率不能满足要求,存在砂眼、裂纹等缺陷问题。本文针对可锻铸铁连接件进行了铸造工艺设计,应用ProCAST有限元软件对连接件铸造宏观过程进行了数值模拟。通过模拟铸件的充型及凝固过程,获得了浇注时间和浇注温度等工艺参数对铸件质量的影响规律,优选出了合理的工艺条件。同时,对铸件凝固过程的应力、应变情况进行了模拟分析,确保铸件在所选工艺条件下不会因应力过大导致裂纹产生。通过优化工艺条件,使产品实际生产的合格率由原85%提高至95%以上。

关键词：可锻铸铁连接件模拟仿真铸造工艺

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DVsc:An Automated Framework for Efficiently Detecting Viral Infection from Single-cell Transcriptomics Data

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Genomics, Proteomics & Bioinformatics 2024年第2期22卷 189-200页

作者： Fei Leng Song Mei Xiaolin Zhou xuanshi Liu Yefeng yuan Wenjian xu Chongyi Hao Ruolan Guo Chanjuan Hao Wei Li Peng Zhang Beijing Key Laboratory for Genetics of Birth Defects Beijing Pediatric Research Institute/MOE Key Laboratory of Major Diseases in Children/Rare Disease CenterBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China Institute of Biomedical Engineering University of TorontoTorontoM5S 3G9Canada

Single-cell RNA sequencing(scRNA-seq)has emerged as a valuable tool for studying cellular heterogeneity in various fields,particularly in virological *** studying the viral and cellular transcriptomes,the dynamics of viral infection can be investigated at a single-cell ***,limited studies have been conducted to investigate whether RNA transcripts from clinical samples contain substantial amounts of viral RNAs,and a specific computational framework for efficiently detecting viral reads based on scRNA-seq data has not been ***,we introduce DVsc,an open-source framework for precise quantitative analysis of viral infection from single-cell transcriptomics *** applied to approximately 200 diverse clinical samples that were infected by more than 10 different viruses,DVsc demonstrated high accuracy in systematically detecting viral infection across a wide array of cell *** innovative bioinformatics pipeline could be crucial for addressing the potential effects of surreptitiously invading viruses on certain illnesses,as well as for designing novel medicines to target viruses in specific host cell subsets and evaluating the efficacy of *** supports the FASTQ format as an input and is compatible with multiple single-cell sequencing ***,it could also be applied to sequences from bulk RNA sequencing *** is available at http://62.***.32.33:5000/DVsc.

关键词： Single-cell RNA sequencing Viral transcriptome Cellular transcriptome Viral infection Quantitative analysis Bulk RNA sequencing

Paper-based biosensors based on multiple recognition modes for visual detection of microbially contaminated food

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未来食品学报(英文) 2024年第1期4卷 61-70页

作者： Jie Li Keren Chen yuan Su Longjiao Zhu Hongxing Zhang Wentao xu xiangyang Li Beijing Laboratory of Food Quality and Safety Beijing Key Laboratory of Agriculraral Product Detection and Control of Spoilage Organisms and Pesticide ResidueFaculty of Food Science and EngineeringBeijing University of AgricultureBeijing 102206China Department of Munition and Health Instirure of Munition and HealthChina Agricultural UniversityBeijing 100191China

Microbially contaminated food can cause serious health hazards and economic losses,therefore sensitive,rapid,and highly specific visual detection is called *** detection of microorganisms is complex and time-consuming,which cannot meet current testing *** emergence of paper-based biosensors provided an effective method for efficient and visual detection of microorganisms,due to its high speed,all-in-one device,low cost,and *** review focused on 5 biomarkers,namely nucleic acids,proteins,***,and the whole microorganism of ***,the recognition methods were summed up in 5 forms,including immunological recognition,aptamer recognition,nucleic acid amplification-mediated *** recognition and clustered regularly interspaced short palindromic repeats mediated *** addition,we summarized the applications of paper-based biosensors in the detection of microorganisms *** the exploration of different biomarkers,identification methods,and applications,we hope to provide a reference for the development of paper-based biosensors and their application in safeguarding the food chain.

关键词： Paper-based biosensor Microorganism Multiple recognition Biomarker Visual detection

Efficient synthesis of vitamin D3 in a 3D ultraviolet photochemical microreactor fabricated using an ultrafast laser

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Light(Advanced Manufacturing) 2024年第1期5卷 73-81页

作者： Aodong Zhang Jian xu Lingling Xia Ming Hu yunpeng Song Miao Wu Ya Cheng Engineering Research Center for Nanophotonics and Advanced Instrument School of Physics and Electronic ScienceEast China Normal UniversityShanghai 200241China State Key Laboratory of Precision Spectroscopy School of Physics and Electronic ScienceEast China Normal UniversityShanghai 200241China XXL—The Extreme Optoelectromechanics Laboratory School of Physics and Electronic ScienceEast China Normal UniversityShanghai 200241China State Key Laboratory of High Field Laser Physics Shanghai Institute of Optics and Fine MechanicsChinese Academy of SciencesShanghai 201800China

Large-scale,high-precision,and high-transparency microchannels hold great potential for developing high-performance continuous-flow photochemical *** demonstrated ultrafast laser-enabled fabrication of three-dimensional microchannel reactors in ultraviolet(UV)grade fused silica which exhibit high transparency under the illumination of UV light sources of wavelengths well below 300 nm with excellent mixing *** the fabricated glass microchannel reactors,we demonstrated continuous-flow photochemical synthesis of vitamin D_(3) with UV LED array light sources.

关键词： Ultrafast laser microfabrication Fused silica microchannels UV photochemical reactors Continuousflow synthesis Vitamin D_(3)

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火灾滤毒工具的防护性能研究

消防科学与技术 2024年第3期43卷 374-378页

作者：赵祥冯旭赵婧张若蘅韩冲胡成于东兴宋文琦应急管理部天津消防研究所天津300381 工业与公共建筑火灾防控技术应急管理部重点实验室天津300381 天津市消防安全技术重点实验室天津300381

为探究在特定工况下湿毛巾和过滤式消防自救呼吸器的防护性能,搭建滤毒工具防护性能测试平台,针对火灾场景中的常见燃烧物,选择硬质聚氨酯、软质聚氨酯、纸张、木材、棉布、PVC、锂电池7种材料,分别测试其燃烧产物中的主要气体成分,分... 详细信息

为探究在特定工况下湿毛巾和过滤式消防自救呼吸器的防护性能,搭建滤毒工具防护性能测试平台,针对火灾场景中的常见燃烧物,选择硬质聚氨酯、软质聚氨酯、纸张、木材、棉布、PVC、锂电池7种材料,分别测试其燃烧产物中的主要气体成分,分析普通毛巾对气体、烟尘和高温的防护性能。在特定工况下的试验结果表明:湿毛巾对7种燃烧物产生的PM10颗粒具有一定的过滤效果,平均过滤效率为25.57%;对高温烟气具有降温作用,平均降幅为29.1℃;对HCN和CO未见明显过滤效果,对C2H4O的平均过滤效率约为28%,对SO_(2)的平均过滤效率约为75%,对HCl的平均过滤效率约为84%;对比测试过滤式消防自救呼吸器对CO和烟尘的防护能力,其性能远高于湿毛巾,并具有更低的呼吸阻力。

关键词：火灾烟气火灾滤毒工具毛巾过滤式消防自救呼吸器过滤性能

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基于空间句法与GIS的传统村落空间形态研究——以捞车村为例

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湖南包装 2024年第3期39卷 90-95页

作者：向晓航卢艺徐佳湖南工业职业技术学院湖南长沙410208

以湖南省湘西地区少数民族传统村落捞车村作为研究对象,对其进行村落空间形态研究,旨在为该村落的景观元素、传统建筑及其他内部空间要素的保护与利用提供有价值的参考。在对捞车村进行实地调研的基础上,运用空间句法与Arc GIS空间分析... 详细信息

以湖南省湘西地区少数民族传统村落捞车村作为研究对象,对其进行村落空间形态研究,旨在为该村落的景观元素、传统建筑及其他内部空间要素的保护与利用提供有价值的参考。在对捞车村进行实地调研的基础上,运用空间句法与Arc GIS空间分析技术相结合的方法,从全局整合度、可理解度、平均最近邻分析及核密度等角度对研究区进行定量与定性分析。研究结果表明:(1)捞车村空间整体形态属于聚集型,村落空间呈现“一带多点”的布局特征。(2)捞车村的全局整合度不高,可达性一般,空间内部渗透能力不足,但是该村落仍有较少区域整合度较高。(3)该村落的可理解度数值较低,导致使用人群对村落空间信息感知能力变差。最后,根据分析结果提出了优化村落内部路网系统、加强村落空间生态环境系统保护与传统建筑的保护与改造的相关空间优化措施。

关键词：空间句法 ArcGIS 传统村落空间形态捞车村

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Growth of Noncentrosymmetric Two-Dimensional Single Crystals

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Precision Chemistry 2024年第7期2卷 330-354页

作者： Guoliang Cui Jiajie Qi Zhihua Liang Fankai Zeng Xiaowen Zhang Xiaozhi xu Kaihui Liu Guangdong Basic Research Center of Excellence for Structure and Fundamental Interactions of Matter Guangdong Provincial Key Laboratory of Quantum Engineering and Quantum MaterialsSchool of PhysicsSouth China Normal UniversityGuangzhou 510631China Guangdong−Hong Kong Joint Laboratory of Quantum Matter Frontier Research Institute for PhysicsSouth China Normal UniversityGuangzhou 510631China State Key Laboratory for Mesoscopic Physics Frontiers Science Center for Nano-optoelectronicsSchool of PhysicsPeking UniversityBeijing 100871China Songshan Lake Materials Laboratory Institute of PhysicsChinese Academy of SciencesDongguan 523820China

Among the various two-dimensional(2D)materials,more than 99%of them are ***,since the commonly used substrates are generally centrosymmetric,antiparallel islands are usually inevitable in the growth of noncentrosymmetric 2D materials because of the energetic equivalency of these two kinds of antiparallel islands on centrosymmetric ***,achieving the growth of noncentrosymmetric 2D single crystals has long been a great challenge compared with the centrosymmetric ones like *** this review,we presented the remarkable efforts and progress in the past decade,through precise chemical *** first discussed the great challenge and possible strategies in the growth of noncentrosymmetric 2D single ***,we focused on the advancements made in producing representative noncentrosymmetric 2D single crystals,including hexagonal boron nitride(hBN),transition metal dichalcogenides(TMDs),and other noncentrosymmetric 2D *** last,we summarized and looked forward to future research on the growth of layer-,stacking-,and twist-controlled noncentrosymmetric 2D single crystals and their heterostructures.

关键词： noncentrosymmetric two-dimensional materials single crystals hexagonal boron nitride transition metal dichalcogenides