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Novel MIP gene mutation causes autosomal-dominant congenital cataract

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International Journal of Ophthalmology(English edition) 2024年第3期17卷 454-465页

作者： Jing-Lan Ni Hua-Ming Wen Xiao-sheng Huang Qian-Wen Li Jia-Min Cai bao-Jian Fan Jun Zhao The Second Clinical Medical College Jinan UniversityShenzhen 518020Guangdong ProvinceChina Department of Ophthalmology Dongguan Chang’an HospitalDongguan 523843Guangdong ProvinceChina Shenzhen Eye Hospital Affiliated to Jinan University Shenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina Department of Oral&Maxillofacial Surgery Shenzhen Stomatology Hospital Affiliated to Shenzhen UniversityShenzhen 518040Guangdong ProvinceChina Department of Neurosurgery Massachusetts General Hospital and Harvard Medical SchoolBoston 02114MassachusettsUSA Department of Ophthalmology Shenzhen People’s Hospital(the Second Clinical Medical CollegeJinan Universitythe First Affiliated HospitalSouthern University of Science and Technology)Shenzhen 518020Guangdong ProvinceChina

●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye *** panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each *** sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation *** effect of sequence changes on protein structure and function was predicted through bioinformatics *** intrinsic protein(MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage *** embryonic lens phenotypes were screened using confocal microscopy.●RESULTS:A novel heterozygous mutation(c.85G>A;p.G29R)in the MIP gene was identified in the proband of one family.A known heterozygous mutation(c.97C>T;p.R33C;rs864309693)in MIP was found in the proband of another ***-silico prediction indicated that the novel mutation might affect the MIP protein *** embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.●CONCLUSION:Two missense mutations in the MIP gene in Chinese cataract families are identified,and one of which is *** findings expand the genetic spectrum of MIP mutations associated with *** functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation.

关键词： congenital cataract major intrinsic protein missense mutation zebrafish model

Warming intensified the effects of nitrogen addition on N_(2)O emissions from alpine meadow in the northern Qinghai-Tibet Plateau

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Advances in Climate Change Research 2024年第1期15卷 101-112页

作者： Ming-Jie LI Yi-Qing GE Hasbagan GANJURJAV Guo-Zheng HU Hong-bao WU Jun YAN Shi-Cheng HE Qing-zhu GAO Institute of Environment and Sustainable Development in Agriculture Chinese Academy of Agricultural SciencesBeijing 100081China National Agricultural Experimental Station for Agricultural Environment Nagqu 852100China Ecology and Nature Conservation Institute Chinese Academy of ForestryBeijing 100091China College of Resource and Environment Anhui Science and Technology UniversityFengyang 233100China Nagqu Agriculture Animal Husbandryand Prataculture Science and Technology Research and Extension CenterNagqu 852100China Tongliao Experimental Middle School Tongliao 028000China

Warming and nitrogen(N)addition may impact soil nitrous oxide(N_(2)O)emissions,but the relationship between plant community composition and soil microbial activities remains *** a two-year field study in the Qinghai-Tibet Plateau,open-top chambers were used to quantify the effects of warming,N-addition,and their interactions on N_(2)O *** found that the N-addition greatly increased N_(2)O emissions by 77.4%in 2018 when compared to the control *** contrast,warming showed little effect on N_(2)0 emissions but did increase the activity of enzymes associated with soil nitrification and denitrification.A combined effect of warming and N-addition of resulted in 208.6%(2018)and 90.8%(2019)increase in N_(2)0 emissions,respectively,compared to the individual treatments of warming or *** warming in alpine meadows is causally linked to increased legume biomass which is further intensified with the *** legume biomass(p<0.05),soil moisture(p<0.001)and enzyme activity(p<0.001)had a positive effect on N_(2)0 emissions,while diminished microbial carbon/nitrogen(MBC/MBN)(p<0.05)correlated with reduced N_(2)O *** results indicated that N-addition has a positive effect on N_(2)O emissions,and the addition of warming further intensifies this *** increased dominance of legumes and microbial N content contributes to this *** outcomes suggest that warming and atmospheric N deposition can stimulate N_(2)O emissions of alpine meadows inthefuture.

关键词： Alpine meadow Community composition Nitrogen addition Nitrous oxide flux Qinghai-Tibet Plateau Warming

Comparison of corrosion mechanisms of 510L low alloy steel treated by ACS and EPS techniques under various service environments

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Journal of Iron and Steel Research International 2024年第2期31卷 501-518页

作者： bao-sheng Liu Peng-fei Xu Shao-hua Zhang Yan-rui Li Li-ming Mou Jia-li Li Yue-zhong Zhang Pei-mao Fu Fa-cai Shi College of Materials Science and Engineering Taiyuan University of Science and TechnologyTaiyuan030024ShanxiChina College of Chemical and Biological Engineering Taiyuan University of Science and TechnologyTaiyuan030024ShanxiChina Technical Center Taiyuan Iron and Steel(Group)Co.Ltd.Taiyuan030003ShanxiChina

The corrosion mechanism of 510L low alloy steel treated by acid-cleaned surface(ACS)and eco-pickled surface(EPS)techniques in three simulated solutions(S0:atmospheric environment;S1:soil environment;S2:industrial environment)and the influence of interaction between different corrosive anions on corrosion were *** results show that the total corrosion rates of samples in three simulated solutions were in order of S2>S0>S1,which is simultaneously correlated with initial corrosion dissolution processes as well as after the formation of corrosion ***3−will inhibit the initial corrosion owing to the formation of films,whereas HSO3−will accelerate the dissolutions of the matrix based on the synergistic action of HSO3−and Cl−.On the other hand,there is no significant difference in corrosion rates between the samples treated by ACS and EPS *** EPS technique that is safe,reusable and environmentally friendly can be further widely used in future work.

关键词： Corrosion mechanism Low alloy steel Simulated solution Surface technique Immersion time

I-DCGAN and TOPSIS-IFP:A simulation generation model for radiographic flaw detection images in light alloy castings and an algorithm for quality evaluation of generated images

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China Foundry 2024年第3期21卷 239-247页

作者： Ming-jun Hou Hao Dong Xiao-yuan Ji Wen-bing Zou Xiang-sheng Xia Meng Li Ya-jun Yin bao-hui Li Qiang Chen Jian-xin Zhou State Key Laboratory of Materials Processing and Die&Mould Technology Huazhong University of Science and TechnologyWuhan 430074China Xinjiang Technology(Jiangsu)Co. Ltd.Nantong 226100JiangsuChina Southwest Technique and Engineering Research Institute Chongqing 400039China Shanghai Spaceflight Precision Machinery Institute Shanghai 201600China

The intelligent detection technology driven by X-ray images and deep learning represents the forefront of advanced techniques and development trends in flaw detection and automated evaluation of light alloy ***,the efficacy of deep learning models hinges upon a substantial abundance of flaw *** existing research on X-ray image augmentation for flaw detection suffers from shortcomings such as poor diversity of flaw samples and low reliability of quality *** this end,a novel approach was put forward,which involves the creation of the Interpolation-Deep Convolutional Generative Adversarial Network(I-DCGAN)for flaw detection image generation and a comprehensive evaluation algorithm named TOPSIS-IFP.I-DCGAN enables the generation of high-resolution,diverse simulated images with multiple appearances,achieving an improvement in sample diversity and quality while maintaining a relatively lower computational ***-IFP facilitates multi-dimensional quality evaluation,including aspects such as diversity,authenticity,image distribution difference,and image distortion *** results indicate that the X-ray radiographic images of magnesium and aluminum alloy castings achieve optimal performance when trained up to the 800th and 600th epochs,*** TOPSIS-IFP value reaches 78.7%and 73.8%similarity to the ideal solution,*** to single index evaluation,the TOPSIS-IFP algorithm achieves higher-quality simulated images at the optimal training *** approach successfully mitigates the issue of unreliable quality associated with single index *** image generation and comprehensive quality evaluation method developed in this paper provides a novel approach for image augmentation in flaw recognition,holding significant importance for enhancing the robustness of subsequent flaw recognition networks.

关键词： light alloy casting flaw detection image generator discriminator comprehensive evaluation index

Regulated reaction pathway of CO_(2)photoreduction into CH_(4)by metal atom pair sites

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Rare Metals 2024年第9期43卷 4620-4627页

作者： Dong-Po He Guang-Bing Huang Jun Hu Yang Wu Xiao-Dong Li Qing-Xia Chen Shan zhu Wen-sheng Yan Jun-Fa zhu Yang Pan Xing-Chen Jiao Key Laboratory of Synthetic and Biological Colloids Ministry of EducationSchool of Chemical and Material EngineeringJiangnan UniversityWuxi 214122China Hefei National Research Center for Physical Sciences at Microscale National Synchrotron Radiation LaboratoryUniversity of Science and Technology of ChinaHefei 230026China Max Planck Institute of Microstructure Physics Weinberg 206120 HalleGermany State Grid Anhui Electric Power Research Institute Hefei 230601China

The carbon dioxide(CO_(2))reduction process involves complex protonation,making the resulting product often *** achieve the desired product,it is crucial to manipulate the reaction ***,we build the metal atom pair sites for selective CO_(2)photoreduction into *** a prototype,Ni atom pair sites loaded on the Mo S_(2)nanosheets were synthesized and verified by highresolution transmission electron microscopy(HRTEM),X-ray photoelectron spectroscopy(XPS)and X-rayabsorption near edge structure spectra(XANES).In-situ Fourier transform infrared spectroscopy(FTIR)monitors the*CHO group,a crucial intermediate in CH_(4)production,during CO_(2)photoreduction on the Ni-Mo S_(2)nanosheets,whereas this monitoring is not observed for the Mo S_(2)***,theoretical calculations disclose that over the Ni-Mo S_(2)nanosheet slab,the formation energy of*CHO intermediates is determined to be lower(0.585 e V)than the desorption energy of*CO intermediates for CO production(0.64 e V),implying the higher selectivity of CH_(4)production.

关键词： steps dioxide desired

Carbon materials for enhanced photothermal conversion:Preparation and applications on steam generation

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Materials Reports(Energy) 2024年第2期4卷 34-44页

作者： Jiayi zhu Liu Huang Feng bao Guanli Chen Kangjin Song Zheling Wang Hong Xia Jinping Gao Yibing Song Caizhen zhu Fushen Lu Tingting Zheng Muwei Ji College of Chemistry and Chemical Engineering Department of Chemistry and Key Laboratory for Preparation and Application of Ordered Structural Materials of Guangdong ProvinceShantou UniversityShantou515063China School of Chemistry and Chemical Engineering Guangdong Pharmaceutical UniversityZhongshan528458China Institute of Low-Dimensional Materials Genome Initiative College of Chemistry and Environmental EngineeringShenzhen UniversityShenzhen518060China Department of Pharmacy Shandong University of Traditional Chinese MedicineJinan250355China

Photothermal conversion attracted lots of attention in the past years and sorts of materials were explored to enhance photothermal *** the past years,solar-driven desalination by photothermal conversion was proposed to release the shortage of fresh water and then it was considered much more important to prepare photothermal materials on large scales with high performance and low *** this review,we summarized the works on carbon-based photothermal materials in the past years,including the preparation as well as their application in steam *** these works,we give an outlook on the difficulties and chances of how to design and prepare carbon-based photothermal materials.

关键词： Photothermal conversion Carbon Composites Solar energy Steam generation

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安徽省保障性住房PPP模式风险管理研究

武汉商学院学报 2020年第4期34卷 68-73页

作者：杨环盛宝柱安徽建筑大学安徽合肥230601

资金瓶颈是阻扰安徽省保障性住房建设的一个障碍。在众多融资模式中,PPP融资模式是一个不错的选择。由于存在不确定的因素,保障性住房PPP模式在实际操作中暴露出不少风险。对安徽省保障性住房PPP模式通过风险识别、建立风险清单和指标体... 详细信息

资金瓶颈是阻扰安徽省保障性住房建设的一个障碍。在众多融资模式中,PPP融资模式是一个不错的选择。由于存在不确定的因素,保障性住房PPP模式在实际操作中暴露出不少风险。对安徽省保障性住房PPP模式通过风险识别、建立风险清单和指标体系,进行风险评价,提出风险防范措施。

关键词：保障性住房 PPP模式风险管理

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中国房地产平稳发展长效机制的研究

徐州工程学院学报（社会科学版） 2019年第3期34卷 20-28页

作者：盛宝柱朱雅甜安徽建筑大学管理学院安徽合肥230601

目前房地产长效机制的研究还存在不足之处,很多模块还没有研究。通过对房地产税、土地财政、土地使用权、农村宅基地等问题加以分析,提出以下建议:地方政企合作转变房地产消费理念,使之趋于正常并健全供求、竞争机制;建立地域特色征地... 详细信息

目前房地产长效机制的研究还存在不足之处,很多模块还没有研究。通过对房地产税、土地财政、土地使用权、农村宅基地等问题加以分析,提出以下建议:地方政企合作转变房地产消费理念,使之趋于正常并健全供求、竞争机制;建立地域特色征地补偿机制和符合国情的农村宅基地买卖市场;完善"自上而下"式财政税收系统,明确"事权"与"财权"分担机制。同时选取中国2002—2015年数据建立中国房地产相关指标的关联度计量模型进行回归分析,以加快研究建立与中国国情相符合,并且与中国房地产市场规律相适应的平稳健康的房地产控制长效机制。

关键词：长效机制房地产税土地财政房价波动

Clinical observation of extraction-site incisional hernia after laparoscopic colorectal surgery

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World Journal of Gastrointestinal Surgery 2024年第3期16卷 710-716页

作者： bao-Hang Fan Ke-Li Zhong Li-Jin zhu Zhao Chen Fang Li Wen-Fei Wu Second Clinical Medical College of Jinan University Jinan UniversityShenzhen 518020Guangdong ProvinceChina Department of Gastrointestinal Surgery Shenzhen People’s Hospital(The Second Clinical Medical CollegeJinan UniversityThe First Affiliated HospitalSouthern University of Science and Technology)Shenzhen 518020Guangdong ProvinceChina Department of Radiation Oncology Shenzhen People’s Hospital(The Second Clinical Medical CollegeJinan UniversityThe First Affiliated HospitalSouthern University of Science and Technology)Shenzhen 518020Guangdong ProvinceChina

BACKGROUND Laparoscopic colorectal cancer surgery increases the risk of incisional hernia(IH)at the tumor extraction *** To investigate the incidence of IH at extraction sites following laparoscopic colo-rectal cancer surgery and identify the risk factors for IH *** This study retrospectively analyzed the data of 1614 patients who underwent la-paroscopic radical colorectal cancer surgery with tumor extraction through the abdominal wall at our center between January 2017 and December ***-rences in the incidence of postoperative IH at different extraction sites and the risk factors for IH incidence were *** Among the 1614 patients who underwent laparoscopic radical colorectal cancer surgery,303(18.8%),923(57.2%),171(10.6%),and 217(13.4%)tumors were ex-tracted through supraumbilical midline,infraumbilical midline,umbilical,and off-midline *** these,52 patients developed IH in the abdominal wall,with an incidence of 3.2%.The incidence of postoperative IH was significantly higher in the off-midline incision group(8.8%)than in the middle incision groups[the supraumbilical midline(2.6%),infraumbilical midline(2.2%),and umbilical incision(2.9%)groups](χ^(2)=24.985;P<0.05).Univariate analysis showed that IH occurrence was associated with age,obesity,sex,chronic cough,incision infection,and combined diabetes,anemia,and hypopro-teinemia(P<0.05).Similarly,multivariate analysis showed that off-midline incision,age,sex(female),obesity,incision infection,combined chronic cough,and hypoproteinemia were independent risk factors for IH at the site of laparoscopic colorectal cancer surgery(P<0.05).CONCLUSION The incidence of postoperative IH differs between extraction sites for laparoscopic colorectal cancer *** infraumbilical midline incision is associated with a lower hernia rate and is thus a suitable tumor extraction site.

关键词： Incisional hernia Laparoscopy Colorectal cancer Incision infection