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Mental retardation,seizures and language delay caused by new SETD1B mutations:Three case reports

World Journal of Clinical Cases 2024年第2期12卷 383-391页

作者： Le Ding Li-Wan Wei Tai-Song Li Jing Chen Department of Neurology Children’s Hospital of Nanjing Medical UniversityNanjing 210000Jiangsu ProvinceChina Chigene(Beijing)Translational Medical Research Center Co.Ltd.Beijing 101111China

BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve *** in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language *** SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1B *** individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were *** article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment *** the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had *** treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat *** exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(***1825trp),c.4120C>T(***1374*,593),c.14_15insC(***5Hisfs*33).coNCLUSION Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language *** the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of ***,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development.

关键词： Neurodevelopmental disorder Seizure SETD1B gene Whole-exome sequencing New mutation Case report

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Case study on the mechanics of NPR anchor cable compensation for large deformation tunnel in soft rock in the Transverse Mountain area,China

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Journal of Central South University 2024年第6期31卷 2054-2069页

作者： LI Yong ZHENG Jing HUO Shu-sen WANG Feng-nian HE Man-chao TAO Zhi-gang college of Geoscience and Surveying Engineering China University of Mining and Technology(Beijing)Beijing 100083China State Key Labortaory for fine Exploration and Intelligent Development of coal Resources China University of Mining and Technology(Beijing)Beijing 100083China State Key Laboratory for Tunnel Engineering China University of Mining and Technology(Beijing)Beijing 100083China Shanxi Provincial Transportation Technology Research and Development co.ltd. Key Laboratory of Highway Construction and Maintenance Technology in Loess AreaTransportation IndustryTaiyuan 030000China

A study was conducted to analyze the deformation mechanism of strongly weathered quartz schist in the Daliangshan Tunnel,located in the western Transverse Mountain area.A large deformation problem was experienced during the tunnel *** mitigate this problem,a support system was designed incorporating negative Poisson ratio(NPR)anchor cables with negative Poisson ratio *** model experiments,field experiments,and numerical simulation experiments were conducted to investigate the compensation mechanical behavior of NPR anchor *** large deformations of soft rocks in the Daliangshan Tunnel are caused by a high ground stress,a high degree of joint fracture development,and a high degree of surrounding rock fragmentation.A compensation mechanics support system combining long and short NPR anchor cables was suggested to provide sufficient counter-support force(approximately 350 kN)for the surrounding rock inside the *** the NPR anchor cable support system with the original support system used in the Daliangshan tunnel showed that an NPR anchor cable support system,combining cables of 6.3 m and 10.3 m in length,effectively prevented convergence of surrounding rock deformation,and the integrated settlement convergence value remained below 300 *** study provides an effective scientific basis for resolving large deformation problems in deeply buried soft rocks in western transverse mountain areas.

关键词： soft rock large deformation NPR anchor cable physical model numerical simulation compensation mechanics

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Flexible wide-range multidimensional force sensors inspired by bones embedded in muscle

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Microsystems & Nanoengineering 2024年第3期10卷 49-61页

作者： Jie Zhang Xiaojuan Hou Shuo Qian Jiabing Huo Mengjiao Yuan Zhigang Duan Xiaoguang Song HuiWu Shuzheng Shi Wenping Geng Jiliang Mu Jian He Xiujian Chou Science and Technology on Electronic Test and Measurement Laboratory North University of ChinaTaiyuan 030051China School of Software North University of ChinaTaiyuan 030051China School of Mechanical Engineering Hebei University of ArchitectureZhangjiakou 075000China HBIS Group co.ltd. Shijiazhuang 050023China

Flexible sensors have been widely studied for use in motion monitoring,human‒machine interactions(HMIs),personalized medicine,and soft intelligent ***,their practical application is limited by their low output performance,narrow measuring range,and unidirectional force ***,to achieve flexibility and high performance simultaneously,we developed a flexible wide-range multidimensional force sensor(FWMFS)similar to bones embedded in muscle *** adjustable magnetic field endows the FWMFS with multidimensional perception for detecting forces in different *** multilayer stacked coils significantly improved the output from theμV to the mV level while ensuring FWMFS *** optimized FWMFS exhibited a high voltage sensitivity of 0.227 mV/N(0.5–8.4 N)and 0.047 mV/N(8.4–60 N)in response to normal forces ranging from 0.5 N to 60 N and could detect lateral forces ranging from 0.2–1.1 N and voltage sensitivities of 1.039 mV/N(0.2–0.5 N)and 0.194 mV/N(0.5–1.1 N).In terms of normal force measurements,the FWMFS can monitor finger pressure and sliding trajectories in response to finger taps,as well as measure plantar pressure for assessing human *** plantar pressure signals of five human movements collected by the FWMFS were analyzed using the k-nearest neighbors classification algorithm,which achieved a recognition accuracy of 92%.Additionally,an artificial intelligence biometric authentication system is being developed that classifies and recognizes user *** on the lateral force measurement ability of the FWMFS,the direction of ball movement can be distinguished,and communication systems such as Morse code can be *** research has significant potential in intelligent sensing and personalized spatial recognition.

关键词： password Morse force

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An efficient data-driven global sensitivity analysis method of shale gas production through convolutional neural network

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Petroleum Science 2024年第4期21卷 2475-2484页

作者： Liang Xue Shuai Xu Jie Nie Ji Qin Jiang-Xia Han Yue-Tian Liu Qin-Zhuo Liao State Key Laboratory of Petroleum Resources and Engineering China University of Petroleum (Beijing) Department of Oil-Gas Field Development Engineering College of Petroleum Engineering China University of Petroleum (Beijing) Chuanqing Drilling Engineering co.ltd. China National Petroleum Corporation

The shale gas development process is complex in terms of its flow mechanisms and the accuracy of the production forecasting is influenced by geological parameters and engineering parameters. Therefore, to quantitatively evaluate the relative importance of model parameters on the production forecasting performance, sensitivity analysis of parameters is required. The parameters are ranked according to the sensitivity coefficients for the subsequent optimization scheme design. A data-driven global sensitivity analysis(GSA) method using convolutional neural networks(CNN) is proposed to identify the influencing parameters in shale gas production. The CNN is trained on a large dataset, validated against numerical simulations, and utilized as a surrogate model for efficient sensitivity analysis. Our approach integrates CNN with the Sobol' global sensitivity analysis method, presenting three key scenarios for sensitivity analysis: analysis of the production stage as a whole, analysis by fixed time intervals, and analysis by declining rate. The findings underscore the predominant influence of reservoir thickness and well length on shale gas production. Furthermore, the temporal sensitivity analysis reveals the dynamic shifts in parameter importance across the distinct production stages.

关键词： Shale gas Global sensitivity convolutional neural network Data-driven

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Periodic signal extraction of GNSS height time series based on adaptive singular spectrum analysis

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Geodesy and Geodynamics 2024年第1期15卷 50-60页

作者： Chenfeng Li Peibing Yang Tengxu Zhang Jiachun Guo Three Gorges Geotechnical Engineering co.ltd.(Wuhan) Wuhan 430074China college of Resources and Environmental Science and Engineering Hubei University of Science and TechnologyXian©ning 437100China college of Civil Engineering Anhui Jianzhu UniversityHefei 230601China

Singular spectrum analysis is widely used in geodetic time series ***,when extracting time-varying periodic signals from a large number of Global Navigation Satellite System(GNSS)time series,the selection of appropriate embedding window size and principal components makes this method cumbersome and *** improve the efficiency and accuracy of singular spectrum analysis,this paper proposes an adaptive singular spectrum analysis method by combining spectrum analysis with a new trace *** running time and correlation analysis indicate that the proposed method can adaptively set the embedding window size to extract the time-varying periodic signals from GNSS time series,and the extraction efficiency of a single time series is six times that of singular spectrum *** method is also accurate and more suitable for time-varying periodic signal analysis of global GNSS sites.

关键词： GNSS Time series Singular spectrum analysis Trace matrix Periodic signal

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Genetic parameter evaluation for growth and cold resistance traits of the giant freshwater prawn Macrobrachium rosenbergii

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Journal of Oceanology and Limnology 2024年第2期42卷 609-619页

作者： Haihui TU Qianqian XING Zhenxiao ZHONG Qiongying TANG Shaokui YI Zhenglong XIA Miaoying CAI Jingfen LI Quanxin GAO Guoliang YANG Zhejiang Provincial Key Laboratory of Aquatic Resources conservation and Development College of Life SciencesHuzhou UniversityHuzhou 313000China Fengjiashan Reservoir Administration Bureau Baoji 721300China Jiangsu Shufeng Prawn Breeding co.ltd. Gaoyou 225654China

The giant freshwater prawn Macrobrachium rosenbergii distributed from tropical to subtropical regions,is a warm-water species,and its survival temperature is 14-35°C,which greatly limits its culture cycle and culture area in ***,it is urgent to cultivate a new high quality,high yield variety with improved cold-resistance,but the genetic parameters for cold-resistance traits are unknown in *** this study,the cold-resistance of adult *** populations was tested using the indoor artificial cooling *** were selected from 139 families of Shufeng G3 generation and cultured for 200 days.A linear mixed model was constructed by ASReml-R to evaluate the genetic parameters of the cold-resistance trait(cooling degree hours,CDH)and growth traits(body weight,BW,and body length,BL)based on the restricted maximum likelihood(REML)*** results show that the heritability of CDH was low(0.12±0.05),while the growth traits(BW and BL)had low to moderate heritability,with 0.20±0.06 for BW and 0.06±0.04 for *** phenotypic and genetic correlation between BW and BL was significantly positive,but significantly negative phenotypic and genetic correlations were detected between CDH and BW and between CDH and ***,the analysis of the differences between cold-resistance and phenotypic traits showed that the female reproductive status,exoskeleton hardness and claw number of adult prawns had a great influence on the cold-resistance of ***(Pcold-resistant variety of ***.

关键词： cold-resistance growth traits heritability correlation Macrobrachium rosenbergii

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Characterization of alpine meadow surface crack and its correlation with root-soil properties

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Journal of Arid Land 2024年第6期16卷 834-851页

作者： WU Yuechen ZHU Haili ZHANG Yu ZHANG Hailong LIU Guosong LIU Yabin LI Guorong HU Xiasong School of Geological Engineering Qinghai UniversityXining 810016China Key Laboratory of the Cenozoic Resources and Environment on the North Rim of the Qinghai-Tibet Plateau Xining 810016China Qinghai Provincial Transportation Planning and Design Research Institute co.ltd. Xining 810002China

Quantifying surface cracks in alpine meadows is a prerequisite and a key aspect in the study of grassland crack *** characterization indices are crucial for the quantitative characterization of complex cracks,serving as vital factors in assessing the degree of cracking and the development *** far,research on evaluating the degree of grassland degradation through crack characterization indices is rare,especially the quantitative analysis of the development of surface cracks in alpine meadows is relatively ***,based on the phenomenon of surface cracking during the degradation of alpine meadows in some regions of the Qinghai-Tibet Plateau,we selected the alpine meadow in the Huangcheng Mongolian Township,Menyuan Hui Autonomous county,Qinghai Province,China as the study area,used unmanned aerial vehicle(UAV)sensing technology to acquire low-altitude images of alpine meadow surface cracks at different degrees of degradation(light,medium,and heavy degradation),and analyzed the representative metrics characterizing the degree of crack development by interpreting the crack length,length density,branch angle,and burrow(rat hole)distribution density and combining them with in situ crack width and depth ***,the correlations between the crack characterization indices and the soil and root parameters of sample plots at different degrees of degradation in the study area were analyzed using the grey relation *** results revealed that with the increase of degradation,the physical and chemical properties of soil and the mechanical properties of root-soil composite changed significantly,the vegetation coverage reduced,and the root system aggregated in the surface layer of alpine *** the degree of degradation increased,the fracture morphology developed from"linear"to"dendritic",and eventually to a complex and irregular"polygonal"*** crack length,width,depth,and length density were identified as the crack char

关键词： alpine meadow grassland degradation grassland cracks crack characterization index crack morphology root length density grey relation analysis

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From risk control to resilience: developments and trends of urban roads designed as surface flood passages to cope with extreme storms

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Frontiers of Environmental Science & Engineering 2024年第2期18卷 103-120页

作者： Zhiyu Shao Yuexin Li Huafeng Gong Hongxiang Chai college of Environment and Ecology Chongqing UniversityChongqing 400030China Key Laboratory of Ecological Environment of Ministry of Education of Three Gorges Reservoir Area Chongqing UniversityChongqing 400030China T.Y.Lin International Engineering consulting(China)co.ltd. Chongqing 400045China

Urban roads can be designated as surface flood passages to transport excess runoff during extreme storms, thereby preventing local flooding, which is known as the major drainage system. However, this practice poses significant risks, including human loss and property damage, due to the high flow rate and velocity carried by roads. Moreover, urban roads with low flood-resilience may significantly hamper the transportation function during severe storms, leading to dysfunction of the city. Therefore, there is an urgent need to transform risk-oriented flood passages into resilient urban road-based flood passages. This paper presents a systematic review of existing methodologies in designing a road network-based flood passage system, along with the discussion of new technologies to enhance system resilience. The study also addresses current knowledge gaps and future directions. The results indicate that flood management measures based on the urban road network should integrate accessibility assessment, lifeline and emergency planning to ensure human well-being outcomes. Furthermore, the special needs and features of vulnerable groups must be taken into serious consideration during the planning stage. In addition, a data-driven approach is recommended to facilitate real-time management and evaluate future works.

关键词： Major drainage Flood mitigation Resilient city Stormwater model Urban flooding

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Mn-based cathode materials for rechargeable batteries

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Science China chemistry 2024年第1期67卷 87-105页

作者： Xu Zhang Shiqi Liu Boya Wang Guoqing Wang Haozhe Du Xuanyu Wang Haidong Zhang Shu Zhao Lin Wang Haijun Yu Institute of Advanced Battery Materials and Devices Faculty of Materials and ManufacturingBeijing University of TechnologyBeijing 100124China Key Laboratory of Advanced Functional Materials Ministry of EducationBeijing University of TechnologyBeijing 100124China Create Energy&Benefit Future co.ltd. Beijing 100176China

The rapid expansion of renewable energies asks for great progress of energy-storage technologies for sustainable energy supplies,which raises the compelling demand of high-performance rechargeable *** satisfy the huge demand from the coming energy-storage market,the resource and cost-effectiveness of rechargeable batteries become more and more ***(Mn)as a key transition element with advantages including high abundance,low cost,and low toxicity derives various kinds(spinels,layered oxides,polyanions,Prussian blue analogs,etc.)of high-performance Mn-based electrode materials,especially cathodes,for rechargeable batteries ranging from Li-ion batteries,Na-ion batteries,aqueous batteries,to multivalent metal-ion *** is anticipated that Mn-based materials with Mn as the major transition-metal element will constitute a flourishing family of Mn-based rechargeable batteries(Mn RBs)for large-scale and differentiated energy-storage *** the other hand,several critical issues including Jahn-Teller effect,Mn dissolution,and O release greatly hinder the pace of Mn RBs,which require extensive material optimizations and battery/system *** review aims to provide an investigation about Mn-based materials and batteries for the coming energy-storage demands,with compelling issues and challenges that must be overcome.

关键词： manganese cathode materials Mn-based rechargeable batteries energy storage

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Extraction of fractures in shale CT images using improved U-Net

Energy Geoscience

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Energy Geoscience 2024年第2期5卷 240-248页

作者： Xiang Wu Fei Wang Xiaoqiu Zhang Bohua Han Qianru Liu Yonghao Zhang college of Geology Engineering and Geomatics Chang'an UniversityXi'anShaanxi710054China Qinghai Oilfield Exploration and Development Research Institute DunhuangGansu736202China China Petroleum Logging co.ltd. Xi'anShaanxi710077China

Accurate extraction of pores and fractures is a prerequisite for constructing digital rocks for physical property simulation and microstructural response ***,fractures in CT images are similar in grayscale to the rock matrix,and traditional algorithms have difficulty to achieve accurate segmentation *** this study,a dataset containing multiscale fracture information was constructed,and a U-Net semantic segmentation model with a scSE attention mechanism was used to classify shale CT images at the pixel level and compare the results with traditional *** results showed that the CLAHE algorithm effectively removed noise and enhanced the fracture information in the dark parts,which is beneficial for further fracture *** Canny edge detection algorithm had significant false positives and failed to recognize the internal information of the *** Otsu algorithm only extracted fractures with a significant difference from the background and was not sensitive enough for fine *** MEF algorithm enhanced the edge information of the fractures and was also sensitive to fine fractures,but it overestimated the aperture of the *** U-Net was able to identify almost all fractures with good continuity,with an MIou and Recall of 0.80 and 0.82,*** the image resolution increases,more fine fracture information can be extracted.

关键词： CT slices Fracture segmentation Shale U-Net Deep learning

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