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Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

Current Medical Science 2024年第2期44卷 419-425页

作者： Jia-xun LI ling-rui MENG Bao-ke HOU Xiao-lu HAO Da-jiang WANG ling-hui QU Zhao-hui LI Lei ZHANG Xin JIN Department of Senior Ophthalmology the Third Medical Center of PLA General HospitalBeijing 100853China Department of Ophthalmology the 74th Army Group HospitalGuangzhou 510318China

Objective:Autosomal recessive bestrophinopathy(ARB),a retinal degenerative disease,is characterized by central visual loss,yellowish multifocal diffuse subretinal deposits,and a dramatic decrease in the light peak on *** potential pathogenic mechanism involves mutations in the BEST1 gene,which encodes Ca2+-activated Cl−channels in the retinal pigment epithelium(RPE),resulting in degeneration of RPE and *** this study,the complete clinical characteristics of two Chinese ARB families were ***:Pacific Biosciences(PacBio)single-molecule real-time(SMRT)sequencing was performed on the probands to screen for disease-causing gene mutations,and Sanger sequencing was applied to validate variants in the patients and their family ***:Two novel mutations,c.202T>C(chr11:61722628,p.Y68H)and c.867+97G>A,in the BEST1 gene were identified in the two Chinese ARB *** novel missense mutation BEST1 c.202T>C(p.Y68H)resulted in the substitution of tyrosine with histidine in the N-terminal region of transmembrane domain 2 of *** novel variant,BEST1 c.867+97G>A(chr11:61725867),located in intron 7,might be considered a regulatory variant that changes allele-specific binding affinity based on motifs of important transcriptional ***:Our findings represent the first use of third-generation sequencing(TGS)to identify novel BEST1 mutations in patients with ARB,indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific *** novel variants identified further broaden the mutation spectrum of BEST1 in the Chinese population.

关键词： autosomal recessive bestrophinopathy BEST1 gene third-generation sequencing mutation

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Physiotherapy for patients with depression:Recent research progress

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World Journal of Psychiatry 2024年第5期14卷 635-643页

作者： hui-ling Liu Jing Sun Shi-Feng Meng Ning Sun Department of Mental Health First Clinical Medical College of Shanxi Medical UniversityTaiyuan 030000Shanxi ProvinceChina Department of Rehabilitation First Hospital of Shanxi Medical UniversityTaiyuan 030000Shanxi ProvinceChina Department of Mental Health First Hospital of Shanxi Medical UniversityTaiyuan 030000Shanxi ProvinceChina

Depression,a common mental illness,seriously affects the health of individuals and has deleterious effects on *** prevention and treatment of depression has drawn the attention of many researchers and has become an important social *** treatment strategies for depression include drugs,psychotherapy,and *** therapy is ineffective in some patients and psychotherapy has treatment *** a reliable adjuvant therapy,physiotherapy compensates for the shortcomings of drug and psychotherapy and effectively reduces the disease recurrence *** is more scientific and rigorous,its methods are diverse,and to a certain extent,provides more choices for the treatment of *** can relieve symptoms in many ways,such as by improving the levels of neurobiochemical molecules,inhibiting the inflammatory response,regulating the neuroendocrine system,and increasing *** has biological effects similar to those of antidepressants and may produce a superimposed impact when combined with other *** article summarizes the findings on the use of physiotherapy to treat patients with depression over the past five *** also discusses several methods of physiotherapy for treating depression from the aspects of clinical effect,mechanism of action,and disadvantages,thereby serving as a reference for the in-depth development of physiotherapy research.

关键词： Depression Physiotherapy Non-pharmacological Rehabilitation therapy Recent advances

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Renewable conversion of coal gangue to 13-X molecular sieve for Cd^(2+)-containing wastewater adsorption performance

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Rare Metals 2024年第2期43卷 702-710页

作者： Le Kang Si-Fan Liu Da-Wei Yi Kai Wang hui-ling Du Hao-Qi Huang Peng Chen College of Materials Science and Engineering Xi’an University of Science and TechnologyXi’an710054China School of Electrical Engineering Weihai Innovation Research InstituteQingdao UniversityQingdao266000China School of Metallurgy Northeastern UniversityShenyang110819China School of Materials and Chemical Engineering Tongren UniversityTongren554300China

Using coal gangue(CG)as raw material,a new type of all solid-waste-based 13-X molecular sieve material was controllably prepared by alkali fusion-hydrothermal *** synthetic molecular sieve was used as a solid adsorbent to treat Cd^(2+)-containing wastewater,and its adsorption behavior on Cd^(2+)in aqueous solution was studied and *** microstructure and morphology of the molecular sieve were investigated by X-ray diffraction(XRD),field emission scanning electron microscopy(FESEM)and specific surface area *** results show that the synthesized 13-X molecular sieve has higher Brunauer–Emmett–Teller(BET)specific surface area with higher crystallinity and higher adsorption capacity for the heavy metal Cd^(2+).The adsorption process of Cd^(2+)by molecular sieve conforms to the Langmuir isotherm adsorption equation and Lagergren pseudo-second-order rate *** with thermodynamic calculation,it can be concluded that the adsorption process is physically monolayer,spontaneous and *** this study,a low-cost and naturally available synthesis method of 13-X molecular sieve is *** with its adsorption mechanism for Cd^(2+),it provides a feasible and general method for removing heavy metal ions from coal gangue and also provides a new way for the utilization of coal gangue with high added value.

关键词： Coal gangue Hydrothermal synthesis 13-X molecular sieve Adsorption Wastewater containing Cd^(2+)

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Carbon-based nanomaterials cause toxicity by oxidative stress to the liver and brain in Sprague-Dawley rats

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Nuclear Science and Techniques 2024年第6期35卷 54-64页

作者： Ying-Ying Xu Chan Jin Meng Wu Jian-Ye Zhou hui-ling Wei Department of Gastroenterology China-Japan Friendship HospitalBeijing 100029China Shanghai Institute of Applied Physics Chinese Academy of SciencesShanghai 201800China Institute of Particle and Nuclear Physics College of PhysicsHenan Normal UniversityXinxiang 453007China

Carbon-based nanomaterials have important research significance in various disciplines,such as composite materials,nanoelectronic devices,biosensors,biological imaging,and drug ***,the human and ecological risks associated with carbon-based nanomaterials have received increasing ***,the biological safety of carbon based nanomaterials has not been systematically *** this study,we used different types of carbon materials,namely,graphene oxide(GO),single-walled carbon nanotubes(SWCNTs),and multiwalled carbon nanotubes(MWCNTs),as models to observe their distribution and oxidative damage in *** results of Histopathological and ultrastructural examinations indicated that the liver and lungs were the main accumulation targets of these ***-μ-XRF analysis revealed that SWCNTs and MWCNTs might be present in the *** shows that the three types of carbon-based nanomaterials could cross the gas-blood barrier and eventually reach the liver *** addition,SWCNTs and MWCNTs could cross the blood-brain barrier and accumulate in the cerebral *** increase in ROS and MDA levels and the decrease in GSH,SOD,and CAT levels indicated that the three types of nanomaterials might cause oxidative stress in the *** suggests that direct instillation of these carbon-based nanomaterials into rats could induce ROS *** addition,iron(Fe)contaminants in these nanomaterials were a definite source of free ***,these nanomaterials did not cause obvious damage to the rat brain *** deposition of selenoprotein in the rat brain was found to be related to oxidative stress and Fe *** information may support the development of secure and reasonable applications of the studied carbon-based nanomaterials.

关键词： Carbon-based nanomaterials Oxidative stress Trace element distribution TEM SR-μ-XRF

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Micro defects formation and dynamic response analysis of steel plate of quasi-cracking area subjected to explosive load

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Defence Technology（防务技术） 2024年第1期31卷 580-593页

作者： Zheng-qing Zhou Ze-chen Du Xiao Wang hui-ling Jiang Qiang Zhou Yu-long Zhang Yu-zhe Liu Pei-ze Zhang Research Institute of Macro-Safety Science University of Science and TechnologyBeijing100083China School of Civil and Resource Engineering University of Science and Technology BeijingBeijing100083China School of Mechanical Engineering Nantong UniversityNantong226019China China North Industry Advanced Technology Generalization Institute Beijing100089China China Academy of Ordnance Science China

As the protective component,steel plate had attracted extensive attention because of frequently threats of explosive *** this paper,the evolution of microstructure and the mechanism of damage in the quasi-cracking area of steel plate subjected to explosive load were discussed and the relationships between micro defects and dynamic mechanical response were *** the explosion experiment,five observation points were selected equidistant from the quasi-cracking area of the section of the steel plate along the thickness direction,and the characteristics of micro defects at the observation points were analyzed by optical microscope(OM),scanning electron microscope(SEM) and electron backscattered diffraction(EBSD).The observation result shows that many slip bands(SBs) appeared,and the grain orientation changed obviously in the steel plate,the two were the main damage types of micro *** addition,cracks,peeling pits,grooves and other lager micro defects were appeared in the lower area of the *** stress parameters of the observation points were obtained through an effective numerical *** mechanism of damage generation and crack propagation in the quasicracking area were clarified by comparing the specific impulse of each observation point with the corresponding micro *** result shows that the generation and expansion of micro defects are related to the stress area(*** upper compression area,the neutral plane area,and the lower tension area).The micro defects gather and expand at the grain boundary,and will become macroscopic damage under the continuous action of tensile ***,the micro defects at the midpoint of the section of the steel plate in the direction away from the explosion center(*** horizontal direction) were also *** was found that the specific impulse at these positions were much smaller than that in the thickness direction,the micro defects were only SBs and a few micro cracks,and the those decrea

关键词： Explosive load Quasi-cracking area Micro defects Steel plate Dynamic response Numerical simulation

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A possible probe to neutron-skin thickness by fragment parallel momentum distribution in projectile fragmentation reactions

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Nuclear Science and Techniques 2024年第6期35卷 114-119页

作者： Chun-Wang Ma Yi-Jie Duan Ya-Fei Guo Chun-Yuan Qiao Yu-Ting Wang Jie Pu Kai-Xuan Cheng hui-ling Wei College of Physics Henan Normal UniversityXinxiang 453007China Institute of Nuclear Science and Technology Henan Academy of SciencesZhengzhou 450015China

Neutron-skin thickness is a key parameter for a neutron-rich nucleus;however,it is difficult to *** the framework of the Lanzhou Quantum Molecular Dynamics(LQMD)model,a possible probe for the neutron-skin thickness(δ_(np))of neutron-rich ^(48)Ca was studied in the 140A MeV ^(48)Ca+^(9)Be projectile fragmentation reaction based on the parallel momentum distribution(p∥)of the residual fragments.A Fermi-type density distribution was employed to initiate the neutron density distributions in the LQMD simulations.A combined Gaussian function with different width parameters for the left side(Γ_(L))and the right side(Γ_(R))in the distribution was used to describe the p∥of the residual *** neutron-rich sulfur isotopes as examples,Γ_(L) shows a sensitive correlation withδ_(np) of ^(48)Ca,and is proposed as a probe for determining the neutron skin thickness of the projectile nucleus.

关键词： Neutron-skin thickness Projectile fragmentation Parallel momentum distribution Neutron-rich nucleus Quantum molecular dynamics model

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Fundamentals and application in phytoremediation of an efficient arsenate reducing bacterium Pseudomonas putida ARS1

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Journal of Environmental Sciences 2024年第3期137卷 237-244页

作者： Ze-Wen Wang Guang Yang Jian Chen Yaoyu Zhou Avelino Nunez Delgado hui-ling Cui Gui-Lan Duan Barry P.Rosen Yong-Guan Zhu Henan Institute of Advanced Technology Zhengzhou UniversityZhengzhou 450052China State Key Lab of Urban and Regional Ecology Research Center for Eco-Environmental SciencesChinese Academy of SciencesBeijing 100085China Department of Cellular Biology and Pharmacology Florida International UniversityHerbert Wertheim College of MedicineMiamiFL33199USA University of Chinese Academy of Sciences Beijing 100049China Key Laboratory of Urban Environment and Health Institute of Urban EnvironmentChinese Academy of SciencesXiamen 361021China College of Resources and Environment Hunan Agricultural UniversityChangsha 410128China Department of Soil Science and Agricultura Chemistry Engineering Polytechnic SchoolUniversity of Santiago de CompostelaCampus Univ.s/n27002LugoSpain

Arsenic is a ubiquitous environmental ***-mediated arsenic biotransformations significantly infuence arsenic mobility and *** transformations by soil and aquatic organisms have been well documented,while little is known regarding effects due to endophytic *** endophyte Pseudomonas putida ARS1 was isolated from rice grown in arsenic contaminated *** ARS1 shows high tolerance to arsenite(As(Ⅲ))and arsenate(As(V)),and exhibits efficient As(V)reduction and As(Ⅲ)effux *** exposed to 0.6 mg/L As(V),As(V)in the medium was completely converted to As(Ⅲ)by *** ARS1 within 4 *** sequencing showed that *** ARS1 has two chromosomal arsenic resistance gene clusters(arsRCBH)that contribute to efficient As(V)reduction and As(Ⅲ)effux,and result in high resistance to *** globosa is a strong arsenic accumulator with high potential for arsenic phytoremediation,which takes up As(Ⅲ)more efficiently than As(V).Co-culture of *** ARS1 and *** enhanced arsenic accumulation in *** by 69%,and resulted in 91%removal of arsenic(at initial concentration of 0.6 mg/L As(V))from water within 3 *** study provides a promising strategy for in situ arsenic phytoremediation through the cooperation of plant and endophytic bacterium.

关键词： Arsenic Pseudomonas putida Arsenate reduction Endophyte Wolffia globosa Phytoremediation

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基于土地利用/覆被动态变化的粤港澳大湾区碳储量评价与预测

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环境科学 2024年第4期45卷 2321-2331页

作者：郑慧玲郑辉峰中国海洋大学海洋地球科学学院青岛266100 中国人民解放军93617部队北京101400

土地利用/覆被变化会增加区域碳储量或引发碳损耗,进而影响全球气候.研究湾区土地利用与碳储量变化的影响机制,对区域生态系统保护及社会经济可持续发展具有重要意义.基于InVEST模型和PLUS模型,分析了粤港澳大湾区土地利用与碳储量的动... 详细信息

土地利用/覆被变化会增加区域碳储量或引发碳损耗,进而影响全球气候.研究湾区土地利用与碳储量变化的影响机制,对区域生态系统保护及社会经济可持续发展具有重要意义.基于InVEST模型和PLUS模型,分析了粤港澳大湾区土地利用与碳储量的动态变化特征及影响机制,进一步模拟预测了2030年3种发展情景(自然趋势情景、建设用地优先情景和生态优先情景)下土地利用类型变化对碳储量的影响.结果表明:(1)2000~2020年粤港澳大湾区的耕地(减少5.38%)和建设用地(增加8.68%)变化最显著,其余用地类型的变化较小.林地作为大湾区的主要用地类型,同样也是重要的碳库,空间上集中分布于东、北、西三面的台地和丘陵地区,碳储存低值区集中于中部平原,以建设用地为主.(2)受不同用地类型相互转化的影响,粤港澳大湾区的碳损失了20.12×10^(6) Mg.耕地和林地面积的减少以及建设用地面积的增加是碳损耗的主要原因.(3)模拟研究发现生态保护措施将有效提高区域碳储量.具体来说,当耕地、林地和草地向建设用地的转化减少20%,湿地和水体向建设用地的转化减少30%时(生态优先情景),区域碳储量可增加2.58×10^(6) Mg.研究结果可以为土地利用和城市发展规划的制定提供理论依据,促进粤港澳大湾区“碳达峰碳中和”目标的实现.

关键词：土地利用/覆被(LULC) 碳储量 InVEST模型 PLUS模型粤港澳大湾区(GBA)

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Effect of male HBV infection on the outcomes of IVF/ICSI cycles:a retrospective cohort study based on propensity score matching

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Asian Journal of Andrology 2024年第4期26卷 415-420页

作者： Su-Qin Zhu Xiu-Hua Liao Wen-Wen Jiang Yan Sun hui-ling Xu Xiao-Jing Chen Bei-Hong Zheng Fujian Provincial Reproductive Medicine Center Fujian Maternity and Child Health HospitalCollege of Clinical Medicine for Obstetrics and Gynecology and PediatricsFujian Medical UniversityFuzhou 350001China Fujian Key Laboratory of Prenatal Diagnosis and Birth Defect Fuzhou 350001China Fujian Maternal-Fetal Clinical Medicine Research Center Fuzhou 350001China.

This study aimed to investigate the effects of male hepatitis B virus(HBV)infection on male fertility,embryonic development,and in vitro fertilization/intracytoplasmic sperm injection(IVF/ICSI)*** performed a retrospective cohort study that included 3965 infertile couples who received fresh embryo transfer cycles for the first time at the Fujian Maternity and Child Health Hospital(Fuzhou,China)from January 2018 to January *** couples were categorized based on their HBV infection status into the HBV group(HBV-positive men and HBV-negative women)and the control group(HBV-negative couples).A 1:1 propensity score matching was performed with relatively balanced *** characteristics,semen parameters,laboratory outcomes,clinical outcomes,and obstetric and neonatal outcomes were compared between *** propensity score matching,821 couples were included in each *** groups had similar semen parameters and obstetric and neonatal *** HBV group showed a significantly lower live birth rate than the control group(P<0.05).The HBV group had a significantly higher abortion rate than the control group(P<0.05).The rates of high-quality embryos and blastocyst formation were significantly lower in the HBV group than those in the control group(both P<0.05).In conclusion,in couples who undergo IVF/ICSI,male HBV infection reduces the live birth rate and increases the risk of ***,the incidence of low birth weight in women with IVF/ICSI does not increase with male HBV infection.

关键词： hepatitis B virus in vitro fertilization intracytoplasmic sperm injection live birth rate propensity score matching

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Relative peripheral refraction in school children with different refractive errors using a novel multispectral refraction topographer

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International Journal of Ophthalmology(English edition) 2024年第8期17卷 1477-1482页

作者： hui-ling Hu Serena Zhe-Chuang Li Ai-Ying Feng Hao-Xi Zhong Jing-Feng Mu Mei-Zhou Liu Shenzhen Eye Hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina NIMO Ophthalmology Research Institute Beijing 100176China

AIM:To compare relative peripheral refraction(RPR)in Chinese school children with different refractive errors using multispectral refraction topography(MRT).METHODS:A total of 713 eyes of primary school children[172 emmetropia(E),429 low myopia(LM),80 moderate myopia(MM),and 32 low hypermetropia(LH)]aged 10 to 13y were *** were measured using MRT without *** results showed RPR at 0-15°(RPR 0-15),15°-30°(RPR 15-30),and 30°-45°(RPR 30-45)annular in the inferior(RPR-I),superior(RPR-S),nasal(RPR-N),and temporal(RPR-T)*** equivalent(SE)was detected and calculated using an ***:There were significant differences of RPR 15-30 between groups MM[0.02(-0.12;0.18)]and LH[-0.13(-0.36;0.12)](P<0.05),MM and E[-0.06(-0.20;0.10)](P<0.05),and LM[-0.02(-0.15;0.15)]and E(P<0.05).There were also significant differences of RPR 30-45 between groups MM[0.45(0.18;0.74)]and E[0.29(-0.09;0.67)](P<0.05),and LM[0.44(0.14;0.76)]and E(P<0.001).RPR values increased from the hyperopic to medium myopic group in each *** were significant differences of RPR-S between groups MM[-0.02(-0.60;0.30)]and E[-0.44(-0.89;-0.04)](P<0.001),and LM[-0.28(-0.71;0.12)]and E(P<0.05).There were also significant differences of RPR-T between groups MM[0.37(0.21;0.78)]and LH[0.14(-0.52;0.50)](P<0.05),LM[0.41(0.06;0.84)]and LH(P<0.05),and LM and E[0.29(-0.10;0.68),P<0.05].A Spearman’s correlation analysis showed a negative correlation between RPR and SE in the 15°-30°(P=0.005),30°-45°(P<0.05)annular(P=0.002),superior(P<0.001),and temporal(P=0.001)***:Without pupil dilation,values for RPR 15-30,30-45,RPR-S,and T shows significant differences between myopic eyes and emmetropia,and the differences are negatively correlated with SE.

关键词： relative peripheral refraction myopia school children multispectral refraction topography

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