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Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy

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International Journal of Ophthalmology(English edition) 2020年第2期13卷 220-230页

作者： Xiao-Zhen Liu tian-chang tao Hong Qi Shan-Na Feng Ning-Ning Chen Lin Zhao Zhi-Zhong Ma Gen-Lin Li Li-Ping Yang Department of Ophthalmology Peking University Third HospitalBeijing Key Laboratory of Restoration of Damaged Ocular NerveBeijing 100191China Beijing Tongren Eye Center Beijing Tongren HospitalCapital Medical UniversityBeijing Ophthalmology&Visual Sciences Key LabBeijing 100730China

●AIM:To describe the complex,overlapping phenotype of four Chinese patients with inherited retinal dystrophies(IRDs)who harbored two pathogenic genes simultaneously.●METHODS:This retrospective study included 4 patients affected with *** and ophthalmic histories were obtained,and clinical examinations were performed.A specific Hereditary Eye Disease Enrichment Panel(HEDEP)based on exome capture technology was used for genetic screening.●RESULTS:Four patients were identified to harbor disease-causing variants in two different *** retinitis pigmentosa(RP)01-II:1 exhibited both classical ABCA4-induced Stargardt disease(STGD)1 and USH2 Aassociated RP,patient RP02-III:2 exhibited both classical ABCA4-induced STGD1 and CDH23-associated RP,patient RP03-II:1 exhibited both USH2 A-induced autosomal recessive retinitis pigmentosa(arRP)syndrome and SNRNP200-induced autosomal dominant retinitis pigmentosa(adRP),and patient RP04-II:2 exhibited USH2 Ainduced arRP syndrome and EYS-induced arRP at the same time.●CONCLUSION:Our study demonstrates that genotype–phenotype correlations and comprehensive genetic screening is crucial for diagnosing IRDs and helping family planning for patients suffering from the disease.

关键词： inherited retinal dystrophies Hereditary Eye Disease Enrichment Panel retinitis pigmentosa Stargardt disease two pathogenic genes

A toroidal SAW gyroscope with focused IDTs for sensitivity enhancement

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Microsystems & Nanoengineering 2024年第2期10卷 47-56页

作者： Lu tian Haitao Zhao Qiang Shen Honglong chang Ministry of Education Key Laboratory of Micro and Nano Systems for Aerospace School of Mechanical EngineeringNorthwestern Polytechnical UniversityXi’an710072China

A surface acoustic wave(SAW)gyroscope measures the rate of rotational angular velocity by exploiting a phenomenon known as the SAW gyroscope *** a gyroscope is a great candidate for application in harsh environments because of the simplification of the suspension vibration mechanism necessary for traditional microelectromechanical system(MEMS)***,for the first time,we propose a novel toroidal standing-wave-mode SAW gyroscope using focused interdigitated transducers(FIDTs).Unlike traditional SAW gyroscopes that use linear IDTs to generate surface acoustic waves,which cause beam deflection and result in energy dissipation,this study uses FIDTs to concentrate the SAW energy based on structural features,resulting in better focusing performance and increased SAW *** experimental results reveal that the sensitivity of the structure is 1.51µV/(°/s),and the bias instability is 0.77°/s,which are improved by an order of magnitude compared to those of a traditional SAW ***,the FIDT component can enhance the performance of the SAW gyroscope,demonstrating its superiority for angular velocity *** work provides new insights into improving the sensitivity and performance of SAW gyroscopes.

关键词： angular deflection gyroscope

Catalyst-free and Reprocessable Aromatic Polydithiourethanes

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Chinese Journal of Polymer Science 2024年第10期42卷 1435-1441,I0007页

作者： Bo Yang Hai-Jun Feng tian-tian Ni Xiao-Rui Zhou tao Xie Ning Zheng State Key Laboratory of Chemical Engineering College of Chemical and Biological EngineeringZhejiang UniversityHangzhou310058China Department of Colorectal Surgery and Oncology Key Laboratory of Cancer Prevention and InterventionMinistry of EducationThe Second Affiliated HospitalZhejiang University School of MedicineHangzhou310009China

The incorporation of dynamic covalent bonds into thermosets facilitates the reprocessing of polymer networks,thereby meeting the sustainable requirements for polymer ***,the mechanical properties of many materials often decline significantly upon reprocessing due to side reactions caused by harsh processing *** this work,we find that the aromatic dithiocarbamate bond can undergo dissociation under mild conditions without the need for a catalyst,enabling the efficient reprocessing of the corresponding *** a consequence,the mechanical properties of the polydithiourethane can be largely preserved after *** discovery of this dynamic chemistry is anticipated to broaden the potential for material design in dynamic covalent polymer networks.

关键词： Reprocessing Polydithiourethane Dynamic covalent bond

A methodology for laser tool setters calibration and its precise mathematical model

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Chinese Journal of Aeronautics 2024年第7期37卷 564-581页

作者： tao FANG Zixi FANG Ze Zhong CHEN Zhiyong chang School of Mechanical Engineering Northwestern Polytechnical UniversityXi’an 710072China Gina Cody School of Engineering and Computer Science Concordia UniversityMontrealQuebec H3G 1M8Canada changsha Optimum CNC Corporation Changsha 410221China Institute for Aero-engine Smart Assembly of Shaanxi Province Xi’an 710072China

On-machine tool setting is a pivotal approach in achieving intelligent manufacturing,and laser tool setters have become a crucial component of smart machine *** tool setters play a crucial role in precisely measuring the dimensions of cutting tools during the part machining process,focusing on tool length and *** a measuring instrument,the positions of the laser axis of the laser tool setter need to be accurately calibrated before ***,in actual calibration scenarios,traditional calibration methods face challenges due to installation errors in the tool setter and geometric errors in the measuring *** address this issue,this study proposes a novel calibration ***,the calibration mechanism of the laser beam axis is *** on the accurate mathematical model of the laser beam and the measuring rod,and using the polygon clipping algorithm,the mathematical mechanism of the laser tool setter’s work is ***,a novel method is introduced to calculate the compensation distance between the laser beam reference point and the rod bottom center point at each moment during ***,by utilizing the kinematic chain of the tool setter calibration system,a new calibration method is developed to accurately calibrate the position of the laser beam axis in the machine tool coordinate ***,the accuracy of the calibration method is verified through simulation experiments and calibration *** method improves the calibration accuracy of the tool setter,and the mathematical model of the laser tool setter can be extended to the measurement of tools,thereby improving the precision of tool *** research significantly improves the efficient production performance of smart machine tools.

关键词： On-machine tool setting Smart machine tools Mathematical model Calibration method Laser tool sette

Feasibility of medical radioisotope production based on the proton beams at China Spallation Neutron Source

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Nuclear Science and Techniques 2024年第6期35卷 26-39页

作者： Bing Jiang Bin-Bin tian Han-tao Jing Qi-Fan Dong Spallation Neutron Source Science Center Dongguan 523803China Institute of High Energy Physics Chinese Academy of Sciences(CAS)Beijing 100049China University of Chinese Academy of Sciences Beijing 100049China

The utilization of a proton beam from the China Spallation Neutron Source(CSNS)for producing medical radioisotopes is appealing owing to its high current intensity and high *** medical isotope production based on the proton beam at the CSNS is significant for the development of future radiopharmaceuticals,particularly for theα-emitting *** production yield and activity of typical medical isotopes were estimated using the FLUKA *** results indicate that the 300-MeV proton beam with a power of 100 kW at CSNS-II is highly suitable for proof-of-principle studies of most medical *** particular,this proton beam offers tremendous advantages for the large-scale production of alpha radioisotopes,such as 225Ac,whose theoretical production yield can reach approximately 57 Ci/*** on these results,we provide perspectives on the use of CSNS proton beams to produce radioisotopes for medical applications.

关键词： CSNS proton beam Medical isotope production α-Emitting radionuclides Nuclidic purity analysis

Associations of daily sedentary behavior,physical activity,and sleep with irritable bowel syndrome:A prospective analysis of 362,193 participants

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Journal of Sport and Health Science 2024年第1期13卷 72-80页

作者： Xu Gao Sifan tian Ninghao Huang Gang Sun tao Huang Department of Occupational and Environmental Health Sciences School of Public HealthPeking UniversityBeijing 100191China Department of Epidemiology and Biostatistics School of Public HealthPeking UniversityBeijing 100191China Department of Gastroenterology and Hepatology First Medical Center of People's Liberation Army General HospitalBeijing 100853China

Background:Irritable bowel syndrome(IBS)substantially affects quality of life and requires early *** study aimed to elucidate the relationships between IBS and daily behaviors,including sedentary behavior(SB),physical activity(PA),and *** particular,it seeks to identify healthy behaviors to reduce IBS risk,which previous studies have rarely ***:Daily behaviors were retrieved from self-reported data of 362,193 eligible UK Biobank *** cases were determined by self-report or health care data according to RomeⅣ***:A total of 345,388 participants were IBS-free at baseline,during a median follow-up of 8.45 years,19,885 incident IBS cases were *** examined individually,SB and shorter(≤7 h/day)or longer(>7 h/day)sleep duration were each positively associated with increased IBS risk,and PA was associated with lower IBS *** isotemporal substitution model suggested that replacing SB with other activities could provide further protective effects against IBS *** people sleeping≤7 h/day,replacing 1 h of SB with equivalent light PA,vigorous PA,or sleep was associated with 8.1%(95%confidence interval(95%CI):0.901-0.937),5.8%(95%CI:0.896-0.991),and 9.2%(95%CI:0.885-0.932)reduced IBS risk,*** people sleeping>7 h/day,light and vigorous PA were associated with a 4.8%(95%CI:0.926-0.978)and a 12.0%(95%CI:0.815-0.949)lower IBS risk,*** benefits were mostly independent of genetic risk for ***:SB and unhealthy sleep duration are risk factors for IBS.A promising way to mitigate IBS risk for individuals sleeping≤7 h/day and for those sleeping>7 h/day appears to be by replacing SB with adequate sleep or vigorous PA,respectively,regardless of the genetic predisposition of IBS.

关键词： Irritable bowel syndrome Isotemporal substitution model Physical activity Sedentary behavior Sleep

Machine Learning-Aided Data Analysis in Single-Protein Conductance Measurement with Electron Tunneling Probes

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Chinese Journal of Chemistry 2024年第1期42卷 67-72页

作者： Yuxin Yang tao Jiang Ye tian Biaofeng Zeng Longhua Tang State Key Laboratoryof Extreme Photonics and Instrumentation College of Optical Science and EngineeringZhejiang University HangzhouZhejiang 310027China Nanhu Brain-computer Interface Institute HangzhouZhejiang 311100China State Key Laboratory of Fluid Power and Mechatronic Systems College of Mechanical EngineeringZhejiang University HangzhouZhejiang 310027China

The electrical tunneling sensors have excellent potential in the next generation of single-molecule measurement and sequencing technologies due to their high sensitivity and spatial resolution *** tunneling signals that have been measured at a high sampling rate may provide detailed molecular *** the extraordinarily large amount of data that has been gathered,it is still difficult to correlate signal transformations with molecular processes,which creates great obstacles for signal *** learning is an effective tool for data analysis that is currently gaining more *** has demonstrated promising results when used to analyze data from single-molecule electrical *** order to extract meaningful information from raw measurement data,we have combined intelligent machine learning with tunneling electrical *** the purpose of analyzing tunneling electrical signals,we investigated the clustering approach,which is a classic algorithm in machine learning.A clustering model was built that combines the advantages of hierarchical clustering and Gaussian mixture model ***,customized statistical algorithms were *** has been proven to efficiently gather molecular information and enhance the effectiveness of data analysis.

关键词： Tunneling sensor Single-molecule measurement Machine learning Single-protein conductance Molecular electrochemistry Nanotechnology Molecular electronics

CO_(2)flooding in shale oil reservoir with radial borehole fracturing for CO_(2)storage and enhanced oil recovery

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Petroleum Science 2024年第1期21卷 519-534页

作者： Jia-Cheng Dai tian-Yu Wang Jin-tao Weng Kang-Jian tian Li-Ying Zhu Gen-Sheng Li State Key Laboratory of Petroleum Resources and Prospecting China University of PetroleumBeijing102249China China National Oil and Gas Exploration and Development Company Limited Beijing100034China

This study introduces a novel method integrating CO_(2)flooding with radial borehole fracturing for enhanced oil recovery and CO_(2)underground storage,a solution to the limited vertical stimulation reservoir volume in horizontal well fracturing.A numerical model is established to investigate the production rate,reservoir pressure field,and CO_(2)saturation distribution corresponding to changing time of CO_(2)flooding with radial borehole fracturing.A sensitivity analysis on the influence of CO_(2)injection location,layer spacing,pressure difference,borehole number,and hydraulic fractures on oil production and CO_(2)storage is *** CO_(2)flooding process is divided into four *** in layer spacing will significantly improve oil production rate and gas storage ***,serious gas channeling can occur when the spacing is lower than 20 *** the pressure difference between the producer and injector,the borehole number,the hydraulic fracture height,and the fracture width can also increase the oil production rate and gas storage *** analysis shows that layer spacing and fracture height greatly influence gas storage and oil *** outcomes are expected to provide a theoretical basis for the efficient development of shale oil reservoirs in the vertical direction.

关键词： Shale oil Radial borehole fracturing Embedded discrete fracture model Enhanced oil recovery Carbon storage

Optimizing evasive maneuvering of planes using a flight quality driven model

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Science China(Information Sciences) 2024年第3期67卷 197-208页

作者： chang LIU Shaoshan SUN Chenggang tao Yingxin SHOU Bin XU School of Automation Northwestern Polytechnical University Chengdu Aircraft Design & Research Institute of AVIC

This paper investigates the optimal evasive maneuver for a plane to avoid an incoming missile. To accurately model the system dynamics while improving computational efficiency, a simplified plane model based on flight quality is established. A missile model with proportional guidance is also *** problem of determining the optimal evasion plane maneuver is formulated. The Gauss pseudospectral method(GPM) is proposed as a solution to find the optimal maneuver. The optimized maneuver is validated by testing it on a high-fidelity 6-degree-of-freedom(6-DOF) model, which demonstrates the effectiveness of the proposed simplified plane model. The Monte Carlo method is employed to evaluate the capability of the plane to evade missiles in various scenarios and elucidate general principles for successful evasion.

关键词： optimal maneuver flying quality evasive strategy pursuit-evasion game air-to-air combat