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Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella

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Asian Journal of Andrology 2023年第4期25卷 512-519页

作者： Meng Wang Qi-Yu Yang Jue-Pu Zhou hui-ping tan Juan Hu Lei Jin Li-Xia Zhu Reproductive Medicine Center Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

This study aimed to identify genetic causes responsible for multiple morphological abnormalities of the sperm flagella(MMAF)in the Han Chinese *** primary infertile males with completely immobile sperm and MMAF were ***-exome sequencing and Sanger sequencing were performed to identify disease-causing ***,morphological and ultrastructural analyses of sperm flagella were *** probable impact of genetic variants on protein function was analyzed by online bioinformatic tools and immunofluorescence *** patients with dynein axonemal heavy chain 1(DNAH1)gene compound heterozygous variations were ***1 c.7435C>T,p.R2479X and c.10757T>C,p.F3586S were identified in the patient from Family 1,c.11726_11727delCT,p.P3909fs and c.12154delC,p.L4052fs were found in the patient from Family 2,and c.10627-3C>G and c.11726_11727delCT,p.P3909fs existed in the patient from Family *** of these variations have not been reported,and all the mutations showed pathogenicity by functional effect *** absence of the center pair and disorganization of the fibrous sheath were present in sperm flagella at the ultrastructural ***,the expression of DNAH1 was absent in spermatozoa from the participants,validating the pathogenicity of the *** three couples have undergone intracytoplasmic sperm injection(ICSI),and two couples of them became pregnant after the *** conclusion,the newly identified DNAH1 mutations can expand the mutational and phenotypic spectrum of MMAF genes and provide a theoretical basis for genetic diagnosis in MMAF *** is recommended to conduct genetic screening in male infertility patients with MMAF and provide rational genetic counseling,and ICSI might be an optimal strategy to help with fertilization and conception for patients with DNAH1 mutations.

关键词： DNAH1 intracytoplasmic sperm injection male infertility MMAF mutation

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Estimation of tunnel axial orientation in the interlayered rock mass using a comprehensive algorithm

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Journal of Rock Mechanics and Geotechnical Engineering 2024年第7期16卷 2579-2590页

作者： hui Li Weizhong Chen Xianjun tan State Key Laboratory of Geomechanics and Geotechnical Engineering Institute of Rock and Soil MechanicsChinese Academy of SciencesWuhan430071China

The axial selection of tunnels constructed in the interlayered soft-hard rock mass affects the stability and safety during *** optimization is primarily based on experience or comparison and selection of alternative values under specific geological *** this work,an intelligent optimization framework has been proposed by combining numerical analysis,machine learning(ML)and optimization *** automatic and intelligent numerical analysis process was proposed and coded to reduce redundant manual *** conventional optimization algorithm was developed from two aspects and applied to the hyperparameters estimation of the support vector machine(SVM)model and the axial orientation optimization of the ***,the comprehensive framework was applied to a numerical case study,and the results were compared with those of other *** results of this study indicate that the determination coefficients between the predicted and the numerical stability evaluation indices(STIs)on the training and testing datasets are 0.998 and 0.997,*** a given geological condition,the STI that changes with the axial orientation shows the trend of first decreasing and then increasing,and the optimal tunnel axial orientation is estimated to be 87.This method provides an alternative and quick approach to the overall design of the tunnels.

关键词： Tunnel Building information modeling Design optimization Particle swarm optimization Support vector machine(SVM)

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Higher-order expansions of powered extremes of logarithmic general error distribution

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Applied Mathematics(A Journal of Chinese Universities) 2024年第1期39卷 47-54页

作者： tan Xiao-feng LI Li-hui School of Mathematics and Statistics Southwest UniversityChongqing 400715China

In this paper,Let M_(n)denote the maximum of logarithmic general error distribution with parameter v≥***-order expansions for distributions of powered extremes M_(n)^(p)are derived under an optimal choice of normalizing *** is shown that M_(n)^(p),when v=1,converges to the Frechet extreme value distribution at the rate of 1/n,and if v>1 then M_(n)^(p)converges to the Gumbel extreme value distribution at the rate of(loglogn)^(2)=(log n)^(1-1/v).

关键词： logarithmic general error distribution convergence rate higher-order expansion powered ex-treme

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In vivo label-free measurement of blood flow velocity symmetry based on dual line scanning third-harmonic generation microscopy excited at the 1700 nm window

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Journal of Innovative Optical Health Sciences 2024年第1期17卷 61-68页

作者： hui Cheng Jincheng Zhong ping Qiu Ke Wang Key Laboratory of Optoelectronic Devices and Systems of Ministry of Education and Guangdong Province College of Physics and Optoelectronic Engineering Shenzhen University Shenzhen 518060 P.R.China

Measurement of bloodflow velocity is key to understanding physiology and pathology in *** most measurements are performed at the middle of the blood vessel,little research has been done on characterizing the instantaneous bloodflow velocity *** is mainly due to the lack of measurement technology with high spatial and temporal ***,we tackle this problem with our recently developed dual-wavelength line-scan third-harmonic generation(THG)imaging *** acquisition of dual-wavelength THG line-scanning signals enables measurement of bloodflow velocities at two radially symmetric positions in both venules and arterioles in mouse brain in *** results clearly show that the instantaneous bloodflow velocity is not symmetric under general conditions.

关键词： 1700 nm-Window third-harmonic generation imaging blood flow velocity

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Strong invariance principle for a counterbalanced random walk

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Applied Mathematics(A Journal of Chinese Universities) 2024年第2期39卷 370-380页

作者： tan hui-qun HU Zhi-shui DONG Liang International Institute of Finance School of ManagementUniversity of Science and Technology of ChinaHefei 230026China Center for Basic Teaching and Experiment Nanjing University of Science and TechnologyJiangyin 214443China

We study a counterbalanced random walkS_(n)=X_(1)+…+X_(n),which is a discrete time non-Markovian process andX_(n) are given recursively as *** n≥2,X_(n) is a new independent sample from some fixed law̸=0 with a fixed probability p,andX_(n)=−X_(v(n))with probability 1−p,where v(n)is a uniform random variable on{1;…;n−1}.We apply martingale method to obtain a strong invariance principle forS_(n).

关键词： random walk martingale invariance principle

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Structural engineering of hard carbon through spark plasma sintering for enhanced sodium-ion storage

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Rare Metals 2024年第9期43卷 4274-4285页

作者： Hao-Ming Xiao Heng Zheng ping Yuan Jun-hui Luo Lin-Lin Shen Jie-Feng tan Xian-You Luo De Li Yong Chen Guangdong Key Laboratory for Hydrogen Energy Technologies School of Materials Science and Hydrogen EnergyFoshan University State Key Laboratory of Marine Resource Utilization in South China Sea Hainan Provincial Key Laboratory of Research on Utilization of Si-Zr-Ti ResourcesHainan University

Hard carbon （HC） has emerged as one of the superior anode materials for sodium-ion batteries （SIBs）,with its electrochemical performance significantly influenced by the presence of oxygen functional groups and its closed pore ***,current research on the structural adjustment of these oxygen functional groups and the closed pore architecture within HC remains ***,energy-efficient and contamination-free spark plasma sintering technology was employed to tune the structure of coconut-shell HC,resulting in significant adjustments to the content of carboxyl （decreasing from 5.71 at%to 2.12 at%） and hydroxyl groups （decreasing from 7.73 at % to 6.26 at%）.Crucially,these modifications reduced the irreversible reaction of oxygen functional groups with Na+.Simultaneously,a substantial number of closed pores with an average diameter of 1.22 nm were generated within the HC,offering an ideal environment for efficient Na+*** structural changes resulted in a remarkable improvement in the electrochemical performance of the modified *** reversible specific capacity of the modified HC surged from 73.89 mAh·g-1to an impressive 251.97 m Ah·g-1at a current density of 50 mA·*** at 400 mA·g-1,the reversible specific capacity increased significantly from 14.55 to 85.44 mAh·***,this study provides a novel perspective for designing tailored HC materials with the potential to develop high-performance SIBs.

关键词： Closed pores Hard carbon Oxygen functional groups Sodium-ion batteries Spark plasma sintering

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Historical Changes and Multi-scenario Prediction of Land Use and Terrestrial Ecosystem Carbon Storage in China

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Chinese Geographical Science 2024年第3期34卷 487-503页

作者： AN Yue tan Xuelan REN hui LI Yinqi ZHOU Zhou College of Resources Hunan Agricultural UniversityChangsha 410128China School of Geographic Science Hunan Normal UniversityChangsha 410081China

Terrestrial carbon storage(CS)plays a crucial role in achieving carbon balance and mitigating global climate *** study employs the Shared Socioeconomic Pathways and Representative Concentration Pathways(SSPs-RCPs)published by the Intergovernmental Panel on Climate Change(IPCC)and incorporates the Policy Control Scenario(PCS)regulated by China’s land management *** Future Land Use Simulation(FLUS)model is employed to generate a 1 km resolution land use/cover change(LUCC)dataset for China in 2030 and *** on the carbon density dataset of China’s terrestrial ecosystems,the study analyses CS changes and their relationship with land use changes spanning from 1990 to *** findings indicate that the quantitative changes in land use in China from 1990 to 2020 are characterised by a reduction in the area proportion of cropland and grassland,along with an increase in the impervious surface and forest *** changing trend is projected to continue under the PCS from 2020 to *** the SSPs-RCPs scenario,the proportion of cropland and impervious surface predominantly increases,while the proportions of forest and grassland continuously *** loss in China’s carbon storage from 1990 to 2020 amounted to 0.53×10^(12)kg,primarily due to the reduced area of cropland and *** the SSPs-RCPs scenario,more significant carbon loss occurs,reaching a peak of8.07×10^(12)kg in the SSP4-RCP3.4 *** loss is mainly concentrated in the southeastern coastal area and the Beijing-TianjinHebei(BTH)region of China,with urbanisation and deforestation identified as the primary *** the future,it is advisable to enhance the protection of forests and grassland while stabilising cropland areas and improving the intensity of urban *** research findings offer valuable data support for China’s land management policy,land space optimisation,and the achievement of dual-carbon targets.

关键词： land use change Future Land Use Simulation(FLUS)model carbon storage carbon density dataset land use scenario China

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Simulation of urban expansion using geographical similarity transition rules and neighbourhood sizes

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Journal of Geographical Sciences 2024年第7期34卷 1394-1414页

作者： LI Yinqi AN Yue ZHOU Zhou REN hui tan Xuelan College of Resources Hunan Agricultural UniversityChangsha410128China College of Geographical Sciences Hunan Normal UniversityChangsha410081China

Most existing cellular automata(CA)models impose strict requirements on the number and spatial distribution of *** makes it a challenge to capture spatial heterogeneity in urban dynamics and meet the modeling needs of large and complex geographic *** paper presents a CA model based on geographically optimal similarity(GOS)transition rules and similarly sized neighborhoods(SSN).By comparing the similarity in geographical configuration between samples and predicted points,the model enables a comprehensive characterization of the driving mechanism behind urban expansion and its self-organizing *** helps to mitigate the impact of sample selection and assumptions about spatial stationarity on simulation *** performance of GOS-SSN-CA simulation was tested by taking the urban expansion in the Changsha-Zhuzhou-Xiangtan urban agglomeration in China as an *** results show that GOS can derive more accurate and reliable urban transition rules with fewer samples,thereby significantly reducing spatial prediction errors compared with logistic ***,SSN selects different neighborhood sizes to represent the difference between the local self-organizing range and surrounding cells,thus further improving the simulation accuracy and restricting urban expansion ***,GOS-SSN-CA effectively characterizes the geographical similarity of urban expansion,improves simulation accuracy while constraining the urban expansion form,and enhances the practical application value of CA.

关键词： urban growth cellular automata geographic similarity model optimization spatial nonstationarity

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Quantitative understanding of phase segregation behaviors by precisely building discrete oligo-ester-b-oligo-olefin block copolymers

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Science China Chemistry 2024年第3期67卷 1008-1016页

作者： Yuxin Liu Rui tan Haibing Wu Xue-hui Dong Zhengbiao Zhang College of Chemistry Chemical Engineering and Materials ScienceSoochow UniversitySuzhou 215123China State Key Laboratory of Radiation Medicine and Protection Soochow UniversitySuzhou 215123China South China Advanced Institute for Soft Matter Science and Technology School of Molecular Science and EngineeringSouth China University of TechnologyGuangzhou 510640China

Block copolymers(BCPs) with high Flory-Huggins parameter(χ) and balanced surface energy have aroused tremendous interest for ultra-small nanopatterns ***,high χ and balanced surface energy are generally *** fine tune of chain structure might be a useful way to achieve high χ and balanced surface *** realize this,the block copolymer with exactly uniform chain structure,i.e.,defined molecular structure,is highly desirable for accurately evaluating the phase ***,two kinds of discrete oligo ester-b-oligo olefin block copolymers with different chemical structures(oligo lactic acid-boligo olefin BCP,oLA_(n)-b-C_(m);oligo phenyl lactic acid-b-oligo olefin BCP,oPL_(n)-b-C_(m)) were modularly synthesized through iterative growth *** effect of chain structure on segregation strength and surface properties was quantitatively investigated using the discrete BCPs as precise *** the one hand,introducing rigid and nonpolar phenyl groups into oligo ester block has a negligible effect on the chemical incompatibility,as confirmed by the identical high χ values of oLA_(n)-b-C_(m) and oPL_(n)-b-C_(m)(χ_(oLA/C)=0.21 and χ_(oPL/C)=0.19).On the other hand,the incorporation of nonpolar phenyl groups creates balanced surface energy,that is,the high χ and balanced surface energy were simultaneously achieved by oPL_(n)-b-C_(m).Therefore,sub-10 nm perpendicular nanopatterns can be easily produced upon brief thermal treatment,demonstrating its potential application in semiconductor manufacturing with ultra-small feature *** discrete BCP can serve as a quantitative and exquisite model to study the critical contribution of chain structures on phase separation behavior,providing insightful understanding to facilitate the potential application in the chip process.

关键词： discrete polymer iterative growth self-assembly highχ balanced surface

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Super-high bed sintering for iron ores:behaviors,causes and solutions of horizontal segregation on strand

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Journal of Iron and Steel Research(International) 2024年第7期31卷 1590-1596页

作者： Liang-ping Xu hui-bo Liu Zhong-lin Dong Qiang Zhong Yu-chao Zhao Guang-hui Li School of Minerals Processing and Bioengineering Central South UniversityChangsha 410083HunanChina

Horizontal segregation has been a constraint to the development and application of super-high bed *** eliminate the horizontal segregation of super-high bed sintering,several typical sintering machines were sampled and analyzed,and theoretical calculation was made to compare the bed depth and their differences in different areas within the mixture ***,solutions were proposed and applied to a 265 m^(2) sintering *** results showed that the horizontal seg-regation of the 265 m^(2) sintering machine was dominated by particles larger than 8 mm with horizontal segregation degree of 0.48,while 360 and 550 m^(2) sintering machines were affected by 5-8 mm and 1-3 mm particles with horizontal segregation degree of 0.27 and 0.31,*** analysis indicated the different segregation distribution results from the matching of the bed depth of each area within the mixture ***,the horizontal segregation degree not larger than 0.06 was achieved by optimizing the time parameters and the division of three zones on the 265 m^(2) sintering machine.

关键词： Super-high bed sintering Horizontal segregation Feeder Particle distribution Agglomeration

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