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Abnormal function of EPHA2/p.R957P mutant in congenital cataract

International Journal of Ophthalmology(English edition) 2024年第6期17卷 1007-1017页

作者： Jing-Jin Zhang Zong-Fu Cao Bi-Ting Zhou Ju-Hua Yang Zhong Li shuang lin Xiao-Le Chen Nan-Wen Zhang Qin Ye Xu Ma Yi-Hua Zhu Department of Ophthalmology the First Affiliated Hospital of Fujian Medical UniversityFujian Institute of OphthalmologyFujian Provincial Clinical Medical Research Center of Eye Diseases and OptometryFuzhou 350005Fujian ProvinceChina Department of Ophthalmology National Regional Medical CenterBinhai Campus of the First Affiliated HospitalFujian Medical UniversityFuzhou 350005Fujian ProvinceChina Chinese Academy of Medical Sciences&Peking Union Medical College Beijing 100000China National Human Genetic Resources Center National Research Institute for Family PlanningBeijing 100081China Department of Bioengineering and Biopharmaceutics School of PharmacyFujian Medical UniversityFuzhou 350004Fujian ProvinceChina

AIM:To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the pathogenicity.METHODS:A four-generation Chinese family affected with autosomal dominant congenital cataract was recruited.Nineteen individuals took part in this study including 5 affected and 14 unaffected individuals.Sanger sequencing targeted hot-spot regions of 27 congenital cataract-causing genes for variant discovery.The pathogenicity of the variant was evaluated by the guidelines of American College of Medical Genetics and InterVar software.Confocal microscopy was applied to detect the subcellular localization of fluorescence-labeled ephrin type-A receptor 2(EPHA2).Co-immunoprecipitation assay was implemented to estimate the interaction between EphA2 and other lens membrane proteins.The mRNA and protein expression were analyzed by reverse transcription-polymerase chain reaction(qRT-PCR)and Western blotting assay,respectively.The cell migration was analyzed by wound healing assay.Zebrafish model was generated by ectopic expression of human EPHA2/p.R957P mutant to demonstrate whether the mutant could cause lens opacity in vivo.RESULTS:A novel missense and pathogenic variant c.2870G>C was identified in the sterile alpha motif(SAM)domain of EPHA2.Functional studies demonstrated the variant’s impact:reduced EPHA2 protein expression,altered subcellular localization,and disrupted interactions with other lens membrane proteins.This mutant notably enhanced human lens epithelial cell migration,and induced a central cloudy region and roughness in zebrafish lenses with ectopic expression of human EPHA2/p.R957P mutant under differential interference contrast(DIC)optics.CONCLUSION:Novel pathogenic c.2870G>C variant of EPHA2 in a Chinese congenital cataract family contributes to disease pathogenesis.

关键词： congenital cataract EPHA2 missense variant function analysis

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Effect of aflibercept combined with triamcinolone acetonide on aqueous humor growth factor and inflammatory mediators in diabetic macular edema

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International Journal of Ophthalmology(English edition) 2024年第2期17卷 297-303页

作者： De-shuang Li Hong-Xia Liao Jing-lin Zhang Bo Qin Shenzhen Aier Eye Hospital Aier Eye HospitalJinan UniversityShenzhen 518031Guangdong ProvinceChina Guangzhou Aier Eye Hospital Jinan UniversityGuangzhou 510040Guangdong ProvinceChina

AIM:To investigate the efficacy of aflibercept combined with sub-tenon injection of triamcinolone acetonide(TA)in treating diabetic macular edema(DME)and to examine changes in growth factors and inflammatory mediator levels in aqueous humor after injection.METHODS:Totally 67 DME patients(67 eyes)and 30 cataract patients(32 eyes)were enrolled as the DME group and the control group,respectively.The DME group was divided into the aflibercept group(34 cases)and the aflibercept combined with TA group(combined group,33 cases).The aqueous humor of both groups was collected during the study period.The aqueous levels of vascular endothelial growth factor(VEGF),monocyte chemoattractant protein-1(MCP-1),interleukin-6(IL-6),interleukin-8(IL-8),and interleukin-1β(IL-1β)were detected using a microsphere suspension array technology(Luminex 200TM).Aqueous cytokines,best-corrected visual acuity(BCVA),central macular thickness(CMT),and complications before and after treatment were compared between the aflibercept group and combined group.RESULTS:The concentrations of VEGF,MCP-1,IL-6,and IL-8 in the aqueous humor were significantly higher in the DME group than those of the control group(all P0.05).CONCLUSION:The cytokines VEGF,MCP-1,IL-6,and IL-8 in the aqueous humor of DME patients are significantly increased.Aflibercept and aflibercept combined with TA have good efficacy in DME patients,can effectively reduce CMT,improve the patient’s vision,and have high safety.Aflibercept combined with TA can quickly downregulate the aqueous humor cytokines and help to relieve macular edema rapidly.However,the long-term efficacy is comparable to that of aflibercept alone

关键词： diabetic macular edema aqueous humor cytokines aflibercept triamcinolone acetonide

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Exogenous calcium enhances the physiological status and photosynthetic capacity of rose under drought stress

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Horticultural Plant Journal 2024年第3期10卷 853-865页

作者： Xiaojuan Zhao Shang lin shuang Yu Yichang Zhang lin Su Lifang Geng Chenxia Cheng Xinqiang Jiang College of Landscape Architecture and Forestry Qingdao Agricultural UniversityQingdaoShandong 266000China College of Horticultural Qingdao Agricultural UniversityQingdaoShandong 266000China

Drought(water shortage)can substantially limit the yield and economic value of rose plants(Rosa spp.).Here,we characterized the effect of exogenous calcium(Ca^(2+))on the antioxidant system and photosynthesis-related properties of rose under polyethylene glycol 6000(PEG6000)-induced drought stress.Chlorophyll levels,as well as leaf and root biomass,were significantly reduced by drought;drought also had a major effect on the enzymatic antioxidant system and increased concentrations of reactive oxygen species.Application of exogenous Ca^(2+)increased the net photosynthetic rate and stomatal conductance of leaves,enhanced water-use efficiency,and increased the length and width of stomata following exposure to drought.Organ-specific physiological responses were observed under different concentrations of Ca^(2+).Application of 5 mmol·L^(-1)Ca^(2+)promoted photosynthesis and antioxidant activity in the leaves,and application of 10 mmol·L^(-1)Ca^(2+)promoted antioxidant activity in the roots.Application of exogenous Ca^(2+)greatly enhanced the phenotype and photosynthetic capacity of potted rose plants following exposure to drought stress.Overall,our findings indicate that the application of exogenous Ca^(2+)enhances the drought resistance of roses by promoting physiological adaptation and that it could be used to aid the cultivation of rose plants.

关键词： Rosa hybrida L. Exogenous calcium Drought stress Physiological index Photosynthetic capacity

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Protein succinylation,hepatic metabolism,and liver diseases

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World Journal of Hepatology 2024年第3期16卷 344-352页

作者： shuang Liu Rui Li Ya-Wen Sun Hai lin Hai-Fang Li College of Animal Science and Veterinary Medicine Shandong Agricultural UniversityTai’an 271018Shandong ProvinceChina College of Life Sciences Shandong Agricultural UniversityTai’an 271018Shandong ProvinceChina

Succinylation is a highly conserved post-translational modication that is processed via enzymatic and non-enzymatic mechanisms.Succinylation exhibits strong effects on protein stability,enzyme activity,and transcriptional regulation.Protein succinylation is extensively present in the liver,and increasing evidence has demonstrated that succinylation is closely related to hepatic metabolism.For instance,histone acetyltransferase 1 promotes liver glycolysis,and the sirtuin 5-induced desuccinylation is involved in the regulation of the hepatic urea cycle and lipid metabolism.Therefore,the effects of succinylation on hepatic glucose,amino acid,and lipid metabolism under the action of various enzymes will be discussed in this work.In addition,how succinylases regulate the progression of different liver diseases will be reviewed,including the desuccinylation activity of sirtuin 7,which is closely associated with fatty liver disease and hepatitis,and the actions of lysine acetyltransferase 2A and histone acetyltransferase 1 that act as succinyltransferases to regulate the succinylation of target genes that influence the development of hepatocellular carcinoma.In view of the diversity and significance of protein succinylation,targeting the succinylation pathway may serve as an attractive direction for the treatment of liver diseases.

关键词： Protein succinylation Hepatic metabolism Fatty liver Hepatitis Hepatocellular carcinoma

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Chiral transmission by an open evolution trajectory in a non-Hermitian system

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Light(Science & Applications) 2024年第4期13卷 628-636页

作者： Xiaoqian Shu Qi Zhong Kai Hong Oubo You Jian Wang Guangwei Hu Andrea Alù shuang Zhang Demetrios N.Christodoulides lin Chen Wuhan National Laboratory for Optoelectronics and School of Optical and Electronic Information Huazhong University of Science and TechnologyWuhan 430074China. Zhejiang Lab Hangzhou 311121China. CREOL College of Optics and PhotonicsUniversity of Central FloridaOrlandoFlorida 32816USA. Department of Physics The University of Hong KongHong KongChina. School of Electrical and Electronic Engineering Nanyang Technological University50 Nanyang AvenueSingapore 639798Singapore. Photonics Initiative Advanced Science Research CenterCity University of New YorkNew YorkNY 10031USA. Shenzhen Huazhong University of Science and Technology Research Institute Shenzhen 518063China

Exceptional points(EPs),at which two or more eigenvalues and eigenstates of a resonant system coalesce,are associated with non-Hermitian Hamiltonians with gain and/or loss elements.Dynamic encircling of EPs has received significant interest in recent years,as it has been shown to lead to highly nontrivial phenomena,such as chiral transmission in which the final state of the system depends on the encircling handedness.Previously,chiral transmission for a pair of eigenmodes has been realized by establishing a closed dynamical trajectory in parity-time-(PT-)or anti-PT-symmetric systems.Although chiral transmission of symmetry-broken modes,more accessible in practical photonic integrated circuits,has been realized by establishing a closed trajectory encircling EPs in anti-PTsymmetric systems,the demonstrated transmission efficiency is very low due to path-dependent losses.Here,we demonstrate chiral dynamics in a coupled waveguide system that does not require a closed trajectory.Specifically,we explore an open trajectory linking two infinite points having the same asymptotic eigenmodes(not modes in PT-and anti-PT-symmetric systems),demonstrating that this platform enables high-efficiency chiral transmission,with each eigenmode localized in a single waveguide.This concept is experimentally implemented in a coupled silicon waveguide system at telecommunication wavelengths.Our work provides a new evolution strategy for chiral dynamics with superior performance,laying the foundation for the development of practical chiral-transmission devices.

关键词： chiral system symmetric

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Aero-Hydro-Elastic-Servo Modeling and Dynamic Response Analysis of A Monopile Offshore Wind Turbine Under Different Operating Scenarios

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China Ocean Engineering 2024年第3期38卷 379-393页

作者： XIE shuang-yi GAO Jian LI Yong-ran JIANG Shu-xin ZHANG Cheng-lin HE Jiao College of Mechanical Engineering Chongqing University of TechnologyChongqing 400044China Beijing Institute of Precision Mechatronics and Controls Beijing 100076China College of Mechanical and Vehicle Engineering Chongqing UniversityChongqing 400044China Fishery Machinery and Instrument Research Institute Chinese Academy of Fishery SciencesShanghai 200092China School of Mechanical and Power Engineering Chongqing University of Science&TechnologyChongqing 401331China

This paper constructs a coupled aero-hydro-elastic-servo simulation framework for a monopile offshore wind turbine(OWT).In this framework,a detailed multi-body dynamics model of the monopile OWT including the gearbox,blades,tower and other components(nacelle,hub,bedplate,etc.)has been explicitly established.The effects of pile−soil interaction,controller and operational conditions on the turbine dynamic responses are studied systematically in time domain and frequency domain.The results show that(1)a comprehensive drivetrain model has the capability to provide a more precise representation of the complex dynamic characteristics exhibited by drivetrain components,which can be used as the basis for further study on the dynamic characteristics of the drivetrain.(2)The pile−soil interaction can influence the wind turbine dynamic responses,particularly under the parked condition.(3)The effect of the pile−soil interaction on tower responses is more significant than that on blade responses.(4)The use of the controller can substantially affect the rotor characteristics,which in turn influences the turbine dynamic responses.(5)The tower and blade displacements under the operational condition are much larger than those under the parked condition.The model and methodology presented in this study demonstrate potential for examining complex dynamic behaviors of the monopile OWTs.To ensure accuracy and precision,it is imperative to construct a detailed model of the wind turbine system,while also taking into account simulation efficiency.

关键词： offshore wind turbine(OWT) pile−soil interaction dynamic response parked condition operating condition

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Geochemistry and origins of hydrogen-containing natural gases in deep Songliao Basin,China:Insights from continental scientific drilling

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Petroleum Science 2024年第2期21卷 741-751页

作者： shuang-Biao Han Chao-Han Xiang Xin Du lin-Feng Xie Jie Huang Cheng-Shan Wang College of Geoscience and Surveying Engineering China University of Mining and TechnologyBeijing100083China State Key Laboratory of Biogeology and Environmental Geology China University of GeosciencesBeijing100083China

The different reservoirs in deep Songliao Basin have non-homogeneous lithologies and include multiple layers with a high content of hydrogen gas.The gas composition and stable isotope characteristics vary significantly,but the origin analysis of different gas types has previously been weak.Based on the geochemical parameters of gas samples from different depths and the analysis of geological settings,this research covers the diverse origins of natural gas in different strata.The gas components are mainly methane with a small amount of C_(2+),and non-hydrocarbon gases,including nitrogen(N_(2)),hydrogen(H_(2)),carbon dioxide(CO_(2)),and helium(He).At greater depth,the carbon isotope of methane becomes heavier,and the hydrogen isotope points to a lacustrine sedimentary environment.With increasing depth,the origins of N_(2)and CO_(2)change gradually from a mixture of organic and inorganic to inorganic.The origins of hydrogen gas are complex and include organic sources,water radiolysis,water-rock(Fe^(2+)-containing minerals)reactions,and mantle-derived.The shales of Denglouku and Shahezi Formations,as source rocks,provide the premise for generation and occurrence of organic gas.Furthermore,the deep faults and fluid activities in Basement Formation control the generation and migration of mantle-derived gas.The discovery of a high content of H_(2)in study area not only reveals the organic and inorganic association of natural-gas generation,but also provides a scientific basis for the exploration of deep hydrogen-rich gas.

关键词： Gas compositions Stable isotopes Gas origins Hydrogen gas Songliao Basin

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Aflibercept combined with triamcinolone acetonide in the treatment of diabetic macular edema:optical coherence tomography and optical coherence tomography angiography

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International Journal of Ophthalmology(English edition) 2024年第4期17卷 670-675页

作者： De-shuang Li Hong-Xia Liao Chuan-He Zhang Jian-Guo Huang Wei Chen Jing-lin Zhang Bo Qin Shenzhen Aier Eye Hospital Aier Eye HospitalJinan UniversityShenzhen 518031Guangdong ProvinceChina Department of Ophthalmology the University of Hong Kong-Shenzhen HospitalShenzhen 518000Guangdong ProvinceChina Guangzhou Aier Eye Hospital Jinan UniversityGuangzhou 510040Guangdong ProvinceChina

AIM:To analyze the relationship between optical coherence tomography(OCT)and OCT angiography(OCTA)imaging in patients with diabetic macular edema(DME)who are treated with a combination of aflibercept and triamcinolone acetonide(TA).METHODS:A total of 76 eyes newly diagnosed DME were included in this study.They were randomly assigned to receive either aflibercept or a combination of aflibercept and TA.Injections once a month for a total of three injections.Central macular thickness(CMT),number of hyperreflective foci(HRF),height of subretinal fluid(SRF),and area of foveal avascular zone(FAZ)were evaluated using OCT and OCTA at baseline and after each monthly treatment.RESULTS:Both groups showed improvement in best corrected visual acuity(BCVA)and reduction in macular edema after treatment,and the difference in BCVA between the two groups was statistically significant after each treatment(P<0.05).The difference in CMT between the two groups was statistically significant after the first two injections(P<0.01),but not after the third injection(P=0.875).The number of HRF(1mo:7.41±8.25 vs 10.86±7.22,P=0.027;2mo:5.33±6.13 vs 9.12±8.61,P=0.034;3mo:3.58±3.00 vs 6.37±5.97,P=0.007)and height of SRF(1mo:82.39±39.12 vs 105.77±42.26μm,P=0.011;2mo:36.84±10.02 vs 83.59±37.78μm,P<0.01;3mo:11.57±3.29 vs 45.43±12.60μm,P<0.01)in combined group were statistically significant less than aflibercept group after each injection,while the area of FAZ showed no significant change before and after treatment in both groups.CONCLUSION:The combination therapy of aflibercept and TA shows more significant effects on DME eyes with decreased HRF and SRF.However,both aflibercept and combination therapy show no significant change in the area of FAZ.

关键词： diabetic macular edema optical coherence tomography optical coherence tomography angiography hyperreflective foci subretinal fluid foveal avascular zone aflibercept

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Molecular analyses display the increasing diversity of Podostemaceae in China

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Plant Diversity 2024年第3期46卷 421-424页

作者： Zhi-Zhong Li Zhun Xu shuang Wu Lang-Xing Yuan Chun-Yu Zou Yan Liu Jian-Yong lin Shi-Chu Liang Key Laboratory of Ecology of Rare and Endangered Species and Environmental Protection(Guangxi Normal University) Ministry of EducationGuilin 541006China Wuhan Botanical Garden Chinese Academy of SciencesWuhan 430074China Sino-Africa Joint Research Center Chinese Academy of SciencesWuhan 430074China Guangxi Association for Science and Technology Nanning 530023China Tropical Crops Genetic Resources Institute Chinese Academy of Tropical Agricultural SciencesHaikou 571101China Guangxi Institute of Botany Chinese Academy of SciencesGuilin 541006China Guangxi Forestry Research Institute Nanning 530028China

Podostemaceae(riverweed family),one of the largest aquatic plant families in the world,comprises about 350 species in 51 genera placed in three subfamilies,Podostemoideae,Weddellinoideae,and Tristichoideae(Koi et al.,2022).Most Podostemaceae genera(~38)are monotypic or oligotypic,with a high level of endemism(Koi et al.,2018,2022).Members of Podostemaceae adhere to rocks in fast-flowing rivers,streams,or waterfalls in the subtropics and tropics(Koi et al.,2018).As an adaptation to fastrunning currents,the morphological structure of river-weeds tends to be extremely reduced,including a loss or reduction of primary shoots or roots(Koi and Kato,2007).The vegetative mass of these plants resembles lichens or bryophytes,and are thus known commonly as“dream bryophytes”(Philbrick and Retana,1998).Podostemaceae plants flower when the water level drops during the dry season.In recent years,anthropogenic factors and climate change have severely affected river weed habitats,decreasing populations of these plants.

关键词： roots season habitat

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Short-Term Household Load Forecasting Based on Attention Mechanism and CNN-ICPSO-LSTM

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Energy Engineering 2024年第6期121卷 1473-1493页

作者： lin Ma Liyong Wang shuang Zeng Yutong Zhao Chang Liu Heng Zhang Qiong Wu Hongbo Ren New Energy Technology Center State Grid Beijing Electric Power Research InstituteBeijing100075China College of Energy and Mechanical Engineering Shanghai University of Electric PowerShanghai200090China

Accurate load forecasting forms a crucial foundation for implementing household demand response plans andoptimizing load scheduling. When dealing with short-term load data characterized by substantial fluctuations,a single prediction model is hard to capture temporal features effectively, resulting in diminished predictionaccuracy. In this study, a hybrid deep learning framework that integrates attention mechanism, convolution neuralnetwork (CNN), improved chaotic particle swarm optimization (ICPSO), and long short-term memory (LSTM), isproposed for short-term household load forecasting. Firstly, the CNN model is employed to extract features fromthe original data, enhancing the quality of data features. Subsequently, the moving average method is used for datapreprocessing, followed by the application of the LSTM network to predict the processed data. Moreover, the ICPSOalgorithm is introduced to optimize the parameters of LSTM, aimed at boosting the model’s running speed andaccuracy. Finally, the attention mechanism is employed to optimize the output value of LSTM, effectively addressinginformation loss in LSTM induced by lengthy sequences and further elevating prediction accuracy. According tothe numerical analysis, the accuracy and effectiveness of the proposed hybrid model have been verified. It canexplore data features adeptly, achieving superior prediction accuracy compared to other forecasting methods forthe household load exhibiting significant fluctuations across different seasons.

关键词： Short-term household load forecasting long short-term memory network attention mechanism hybrid deep learning framework

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