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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 development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE 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 gene.Three individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were analyzed.This article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment approach.Among 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 epilepsy.Antiepileptic treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat delayed.Whole exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(p.Arg1825trp),c.4120C>T(p.Gln1374*,593),c.14_15insC(p.His5Hisfs*33).CONCLUSION Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language delay.Although 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 life.Furthermore,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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Epitaxial growth of borophene on graphene surface towards efficient and broadband photodetector

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Nano Research 2024年第4期17卷 3053-3060页

作者： Zenghui Wu chen Shifan Zitong Wu Yi Liu wei Shao Xinchao Liang Chuang Hou Guoan tai The State Key Laboratory of Mechanics and Control of Mechanical Structures and Laboratory of Intelligent Nano Materials and Devices of Ministry of Education College of Aerospace EngineeringNanjing University of Aeronautics and AstronauticsNanjing 210016China

In-situ integration of multiple materials with well-defined interfaces as heterostructures is of great interest due to their unique properties and potential for new device functionality.Because of its polymorphism and diverse bonding geometries,borophene is a promising candidate for two-dimensional heterostructures,but suitable synthesis conditions have limited its potential applications.Toward this end,we demonstrate the vertical borophene and graphene heterostructures which form by epitaxial growth of borophene onto multilayer graphene on Cu substrates via chemical vapor deposition,where hydrogen and NaBH_(4) are respectively used as the carrier gas and the boron source.The lattice structure of the as-synthesized borophene well coincides with the predictedα′-boron sheet.The borophene-based photodetector shows an excellent broadband photoresponse from the ultraviolet(255 nm)to the infrared(940 nm)wavelengths,with enhanced responsivity compared to pristine borophene or graphene photodetectors.This work informs emerging efforts to integrate borophene into nanoelectronic applications for both fundamental investigations and technological applications.

关键词： borophene graphene heterostructure photodetector two-dimensional materials

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Underdetermined direction of arrival estimation with nonuniform linear motion sampling based on a small unmanned aerial vehicle platform

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Defence Technology（防务技术） 2024年第3期33卷 352-363页

作者： Xinwei Wang Xiaopeng Yan tai An Qile chen Dingkun Huang Science and Technology on Electromechanical Dynamic Control Laboratory School of Mechatronical EngineeringBeijing Institute of TechnologyBeijing 100081China

Uniform linear array(ULA)radars are widely used in the collision-avoidance radar systems of small unmanned aerial vehicles(UAVs).In practice,a ULA's multi-target direction of arrival(DOA)estimation performance suffers from significant performance degradation owing to the limited number of physical elements.To improve the underdetermined DOA estimation performance of a ULA radar mounted on a small UAV platform,we propose a nonuniform linear motion sampling underdetermined DOA estimation method.Using the motion of the UAV platform,the echo signal is sampled at different positions.Then,according to the concept of difference co-array,a virtual ULA with multiple array elements and a large aperture is synthesized to increase the degrees of freedom(DOFs).Through position analysis of the original and motion arrays,we propose a nonuniform linear motion sampling method based on ULA for determining the optimal DOFs.Under the condition of no increase in the aperture of the physical array,the proposed method obtains a high DOF with fewer sampling runs and greatly improves the underdetermined DOA estimation performance of ULA.The results of numerical simulations conducted herein verify the superior performance of the proposed method.

关键词： Unmanned aerial vehicle(UAV) Uniform linear array(ULA) Direction of arrival(DOA) Difference co-array Nonuniform linear motion sampling method

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Low-Carbon Dispatching for Virtual Power Plant with Aggregated Distributed Energy Storage Considering Spatiotemporal Distribution of Cleanness Value

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Journal of Modern Power Systems and Clean Energy 2024年第2期12卷 346-358页

作者： Hongchao Gao tai Jin Guanxiong Wang Qixin chen Chongqing Kang Jingkai Zhu State Key Laboratory of Power System Operation and Control Department of Electrical EngineeringTsinghua UniversityBeijing 100084China Sichuan Energy Internet Research Institute Tsinghua University Chengdu 200016China Power Dispatching and Control Center of Shanghai Municipal Electric Power Company Shanghai 200122China IEEE

The scale of distributed energy resources is increasing,but imperfect business models and value transmission mechanisms lead to low utilization ratio and poor responsiveness.To address this issue,the concept of cleanness value of distributed energy storage(DES)is proposed,and the spatiotemporal distribution mechanism is discussed from the perspectives of electrical energy and cleanness.Based on this,an evaluation system for the environmental benefits of DES is constructed to balance the interests between the aggregator and the power system operator.Then,an optimal low-carbon dispatching for a virtual power plant(VPP)with aggregated DES is constructed,where-in energy value and cleanness value are both considered.To achieve the goal,a green attribute labeling method is used to establish a correlation constraint between the nodal carbon potential of the distribution network(DN)and DES behavior,but as a cost,it brings multiple nonlinear relationships.Subsequently,a solution method based on the convex envelope(CE)linear re-construction method is proposed for the multivariate nonlinear programming problem,thereby improving solution efficiency and feasibility.Finally,the simulation verification based on the IEEE 33-bus DN is conducted.The simulation results show that the multidimensional value recognition of DES motivates the willingness of resource users to respond.Meanwhile,resolving the impact of DES on the nodal carbon potential can effectively alleviate overcompensation of the cleanness value.

关键词： Distributed energy storage virtual power plant(VPP) spatiotemporal distribution low-carbon dispatching

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A mite parasitoid,Pyemotes zhonghuajia,negatively impacts the fitness traits and immune response of the fall armyworm,Spodoptera frugiperda

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Journal of Integrative Agriculture 2024年第1期23卷 205-216页

作者： Yanfei Song tai’an Tian Yichai chen Keshi Zhang Maofa Yang Jianfeng Liu Institute of Entomology Guizhou Provincial Key Laboratory for Agricultural Pest Management of the Mountainous RegionGuizhou University/Scientific Observing and Experiment Station of Crop Pests in GuiyangMinistry of Agriculture and Rural AffairsGuiyang 550025China Administration of Guizhou Fanjingshan National Nature Reserve Jiangkou 554400China Centre for Biodiversity and Biosecurity School of Biological SciencesThe University of AucklandAuckland 1072New Zealand College of Tobacco Science Guizhou UniversityGuiyang 550025China

Parasitoids are key regulators in ecological communities and widely used as agents in biocontrol programmes.The fall armyworm,Spodoptera frugiperda,recently invaded multiple continents and caused substantial economic losses in agriculture.Pyemotes zhonghuajia,a newly identified mite parasitoid,has shown potential for controlling various agricultural insect pests.Therefore,this study tested the performance of P.zhonghuajia in parasitising S.frugiperda.We also investigated the sublethal effects of parasitism by P.zhonghuajia on host fitness traits,transgenerational impacts,and cellular and humoral immunity.Our result showed that the fifth-instar larvae of S.frugiperda parasitised by 40 P.zhonghuajia were all dead(i.e.,a lethal effect),while parasitism by 5 or 10 P.zhonghuajia was considered sublethal since many S.frugiperda survived to adulthood and produced offspring after mating.The sublethal influences from parasitism by P.zhonghuajia resulted in reduced pupal weight,adult emergence rate and fecundity,but increased developmental time and longevity.Parasitism at both lethal(40 mites)and sublethal(10 mites)levels impaired the cellular and humoral immunity of S.frugiperda.This study presents the first empirical evidence that mite parasitoids can negatively influence host immunity.Moreover,it provides insights into the biocontrol potential of mite parasitoids and their interactions with hosts.

关键词： Pyemotes zhonghuajia Spodoptera frugiperda immunity parasitically-induced influence biocontrol parasitoid

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Yolk free egg substitute improves the serum phospholipid profile of mice with metabolic syndrome based on lipidomic analysis

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Food Science and Human Wellness 2024年第1期13卷 482-493页

作者： Zhihui Yu Lingyu Fan Fei tai Lixin Zhang Xiaoyu Zhang Yisheng chen College of Food Science and Engineering Shanxi Agricultural UniversityTaigu 030801China Insitute of Food Nutrition and Safety Shanxi Agricultural UniversityTaiyuan 030031China Shanxi Key Laboratory of Edible Fungi for Loess Plateau Taigu 030801China

In this study,the impacts of egg consumption on mice model of metabolic syndrome(Met S)were comparatively investigated.Mice were divided into five groups(n=8):normal diet group(ND),high-fat diet group(HFD),HFD with whole egg group(WE),HFD with free-yolk egg substitute group(YFES),and HFD with lovastatin group(Lov).Main biochemical indexes and a non-targeted lipidomic analysis were employed to insight the lipid profile changes in serum.It was revealed that WE could significantly improve serum biochemical indexes by reducing body weight,low-density lipoprotein cholesterol(LDL-C)and total cholesterol(TC),while increasing high-density lipoprotein cholesterol.YFES exhibited remarkably better performance in increasing phosphatidylglycerol and phosphatidic acids,while decreasing phosphatidylinositol than WE.A total of 50 differential lipids biomarkers tightly related to glycerophospholipids metabolism were screened out.Carnitine C18:2 and C12:1,SM(d18:0/12:0),and SM(d18:1/14:1)were significantly upregulated in YFES compared to WE.YFES reduced expression of SREBP-1c and Cpt1a,while did not affect the expression of PPAR-α.Sphingomyelin biomarkers were positively related to the TC(|r|>0.6),while PPAR-αwas negatively correlated with triglyceride and LDL-C levels.To sum up,YFES attenuated HFD-induced Met S by improving the serum phospholipids,which account for its modulation of glycerophospholipid metabolism.

关键词： Metabolic syndrome Whole egg Yolk free egg substitute Serum Lipidomics

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Air pressure law of a reservoir constructed in karst sinkholes

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Journal of Mountain Science 2024年第3期21卷 1048-1057页

作者： YU Bo tai Shengping ZHENG Kexun chen Shiwan HAN Xiao WANG Senlin ZUO Shuangying Power China Guiyang Engineering Corporation Limited Guiyang 550081China College of Resources and Environmental Engineering Key Laboratory of Karst Georesources and EnvironmentMinistry of EducationGuizhou UniversityGuiyang 550025China

Karst sinkholes with natural negative landform provide favorable conditions for the pumped storage reservoir construction for less excavation work.However,the construction of the reservoir would plug the natural karst channels for water and air,which would cause remarkable air pressure in karst channels when the groundwater level fluctuates.A large laboratory simulation test was carried out to study the air pressure variation of a reservoir built on the karst sinkhole.The air pressure in the karst channel and inside the model was monitored during the groundwater rising and falling process.Result showed that the variation of air pressure in the karst channel and the surrounding rock exhibited a high degree of similarity.The air pressure increased rapidly at the initial stage of water level rising,followed by a slight decrease,then the air pressure increased sharply when the water level approached the top of the karst cave.The initial peak of air pressure and the final peak of air pressure were defined,and both air pressure peaks were linearly increasing with the water level rising rate.The negative air pressure was also analyzed during the drainage process,which was linearly correlated with the water level falling rate.The causes of air pressure variation in karst channels of a pumped storage reservoir built on the karst sinkhole were discussed.The initial rapid increase,then slight decrease and final sudden increase of air pressure were controlled by the combined effects of air compression in karst channel and air seepage into the surrounding rock.For the drainage process,the instant negative air pressure and gradual recovering of air pressure were controlled by the combined effects of negative air pressure induced by water level falling and air supply from surrounding rock.This work could provide valuable reference for the reservoir construction in karst area.

关键词： Simulation test Karst sinkhole Pumped storage reservoir Air pressure Flow rate

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Millisecond dynamics of colloidal suspension studied by X-ray photon correlation spectroscopy at the Shanghai Synchrotron Radiation Facility

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Nuclear Science and Techniques 2024年第1期35卷 1-9页

作者： chen-Hui Cui Zi-Mu Zhou Lin-Feng wei Song-Lin Li Feng Tian Xiu-Hong Li Zhi Guo Yi-Hui Xu Huai-Dong Jiang Ren-Zhong tai Shanghai Synchrotron Radiation Facility Shanghai Advanced Research InstituteChinese Academy of SciencesShanghai 201204China School of Physical Science and Technology ShanghaiTech UniversityShanghai 201210China Shanghai Institute of Applied Physics Chinese Academy of SciencesShanghai 201800China University of Chinese Academy of Sciences Chinese Academy of SciencesBeijing 100049China Center for Transformative Science ShanghaiTech UniversityShanghai 201210China

X-ray photon correlation spectroscopy(XPCS)has emerged as a powerful tool for probing the nanoscale dynamics of soft condensed matter and strongly correlated materials owing to its high spatial resolution and penetration capabilities.This technique requires high brilliance and beam coherence,which are not directly available at modern synchrotron beamlines in China.To facilitate future XPCS experiments,we modified the optical setup of the newly commissioned BL10U1 USAXS beamline at the Shanghai Synchrotron Radiation Facility(SSRF).Subsequently,we performed XPCS measurements on silica suspensions in glycerol,which were opaque owing to their high concentrations.Images were collected using a high frame rate area detector.A comprehensive analysis was performed,yielding correlation functions and several key dynamic parameters.All the results were consistent with the theory of Brownian motion and demonstrated the feasibility of XPCS at SSRF.Finally,by carefully optimizing the setup and analyzing the algorithms,we achieved a time resolution of 2 ms,which enabled the characterization of millisecond dynamics in opaque systems.

关键词： XPCS SSRF Silica suspension Glycerol Brownian motion Millisecond dynamics

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Enhanced Crystallization of Poly(butylene adipate-co-terephthalate)by a Self-assembly Nucleating Agent

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Chinese Journal of Polymer Science 2024年第5期42卷 663-674,I0010页

作者： cheng Zhou Kun chen Zi-Heng Zhang Meng-Fan Jing Chun-tai Liu Chang-Yu Shen Ya-Ming Wang State Key Laboratory of Structural Analysis Optimization and CAE Software for Industrial EquipmentNational Engineering Research Center for Advanced Polymer Processing TechnologyZhengzhou UniversityZhengzhou450002China

Poly(butylene adipate-co-terephthalate)(PBAT)is a promising biodegradable flexible polymer but suffers from slow crystallization rate,making it less attractive for some applications like the injection-molded products in comparison with low-density polyethylene(LDPE).This work aimed to accelerate the crystallization of PBAT by adding a self-assembly nucleating agent octamethylenedicarboxylic dibenzoylhydrazide(OMBH).PBAT/OMBH composites with various OMBH contents(0 wt%,0.5 wt%,0.7 wt%,1 wt%,2 wt%,3 wt%and 5 wt%)were prepared through melt-mixing.The effect of OMBH on the crystallization behavior,morphologies and mechanical properties of PBAT was investigated.The highest nucleation efficiency value of 59.6%was achieved for PBAT with 0.7 wt%OMBH,much higher than that of 22.7%for PBAT with 0.7 wt%talc.Atomic force microscopy results showed that OMBH formed fine fibers and induced the formation of transcrystalline layers of PBAT.Fourier transform infrared spectroscopy(FTIR)combined with two-dimensional correlation spectra suggested that the intermolecular dipole-dipole N—H…O=C interactions but not hydrogen bond between OMBH and PBAT promoted the crystallization of PBAT in the initial period of crystallization.The presence of OMBH did not change the crystal form of PBAT but had positive contribution in enhancing its crystallinity and mechanical properties.This work is essential for preparing PBAT with high crystallization rate,enhancing its potential applications in injection-molded products.

关键词： Poly(butylene adipate-co-terephthalate) Biodegradable Self-assembly nucleating agent Crystallization

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Meibomian glands segmentation in infrared images with limited annotation

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International Journal of Ophthalmology(English edition) 2024年第3期17卷 401-407页

作者： Jia-Wen Lin Ling-Jie Lin Feng Lu tai-chen Lai Jing Zou Lin-Ling Guo Zhi-Ming Lin Li Li College of Computer and Data Science Fuzhou UniversityFuzhou 350108Fujian ProvinceChina Fujian Provincial Key Laboratory of Networking Computing and Intelligent Information Processing Fuzhou UniversityFuzhou 350108Fujian ProvinceChina Shengli Clinical Medical College of Fujian Medical University Fuzhou 350001Fujian ProvinceChina Department of Ophthalmology Fujian Provincial Hospital South BranchFujian Provincial HospitalFuzhou 350001Fujian ProvinceChina

●AIM:To investigate a pioneering framework for the segmentation of meibomian glands(MGs),using limited annotations to reduce the workload on ophthalmologists and enhance the efficiency of clinical diagnosis.●METHODS:Totally 203 infrared meibomian images from 138 patients with dry eye disease,accompanied by corresponding annotations,were gathered for the study.A rectified scribble-supervised gland segmentation(RSSGS)model,incorporating temporal ensemble prediction,uncertainty estimation,and a transformation equivariance constraint,was introduced to address constraints imposed by limited supervision information inherent in scribble annotations.The viability and efficacy of the proposed model were assessed based on accuracy,intersection over union(IoU),and dice coefficient.●RESULTS:Using manual labels as the gold standard,RSSGS demonstrated outcomes with an accuracy of 93.54%,a dice coefficient of 78.02%,and an IoU of 64.18%.Notably,these performance metrics exceed the current weakly supervised state-of-the-art methods by 0.76%,2.06%,and 2.69%,respectively.Furthermore,despite achieving a substantial 80%reduction in annotation costs,it only lags behind fully annotated methods by 0.72%,1.51%,and 2.04%.●CONCLUSION:An innovative automatic segmentation model is developed for MGs in infrared eyelid images,using scribble annotation for training.This model maintains an exceptionally high level of segmentation accuracy while substantially reducing training costs.It holds substantial utility for calculating clinical parameters,thereby greatly enhancing the diagnostic efficiency of ophthalmologists in evaluating meibomian gland dysfunction.

关键词： infrared meibomian glands images meibomian gland dysfunction meibomian glands segmentation weak supervision scribbled annotation

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