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Identification of LRRC46 as a novel candidate gene for high myopia

Science China(Life Sciences) 2024年第9期67卷 1941-1956页

作者： Lingxi jiang Chao Dai Yao Wei Bo Zhao Qi Li Zhengzheng Wu liang zou Zimeng Ye Zhenglin Yang Lulin Huang Yi Shi Sichuan Provincial Key Laboratory for Human Disease Gene Study and the Center for Medical Genetics Department of Laboratory MedicineSichuan Academy of Medical Sciences&Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengdu 610072China Department of Ophthalmology Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengdu 610072China Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences(2019RU026) Sichuan Academy of Medical Sciences&Sichuan Provincial People’s HospitalChengdu 610072China School of Food and Bioengineering Chengdu UniversityChengdu 610106China School of Medicine University of SydneySydney 2050Australia Jinfeng Laboratory Chongging 400000China

High myopia(HM)is the primary cause of blindness,with the microstructural organization and composition of collagenous fibers in the cornea and sclera playing a crucial role in the biomechanical behavior of these *** a previously reported myopic linkage region,MYP5(17q21-22),a potential candidate gene,LRRC46(c.C235T,p.Q79X),was identified in a large Han Chinese ***46 is expressed in various eye tissues in humans and mice,including the retina,cornea,and *** subsequent cell experiments,the mutation(c.C235T)decreased the expression of LRRC46 protein in human corneal epithelial cells(HCE-T).Further investigation revealed that Lrrc46^(-/-)mice(KO)exhibited a classical myopia *** thickness of the cornea and sclera in KO mice became thinner and more pronounced with age,the activity of limbal stem cells decreased,and microstructural changes were observed in the fibroblasts of the sclera and *** performed RNA-seq on scleral and corneal tissues of KO and normal control wild-type(WT)mice,which indicated a significant downregulation of the collagen synthesis-related pathway(extracellular matrix,ECM)in KO *** in vitro studies further indicated that LRRC46,a member of the important LRR protein family,primarily affected the formation of *** study suggested that LRRC46 is a novel candidate gene for HM,influencing collagen protein VⅢ(Col8a1)formation in the eye and gradually altering the biomechanical structure of the cornea and sclera,thereby promoting the occurrence and development of HM.

关键词： high myopia LRRC46 biomechanics collagen protein VⅢ

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Elevated peripheral levels of receptor-interacting protein kinase 1(RIPK1)and IL-8 as biomarkers of human amyotrophic lateral sclerosis

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Signal Transduction and Targeted Therapy 2024年第1期9卷 271-278页

作者： Jun Wei Min Li Zhi Ye Xinqian Hu Xiaoyan He jia Wang Gaofeng Chen Chengyu zou Daichao Xu Hongbing Zhang Junying Yuan Yunhong Zha Institute of Neural Regeneration and Repair and Department of Neurology The First College of Clinical Medical ScienceYichang Central HospitalCollege of Basic Medical ScienceChina Three Gorges UniversityHubei Province Clinical Medical Research Center for Rare Diseases of Nervous SystemYichang 443000China Interdisciplinary Research Center on Biology and Chemistry Shanghai Institute of Organic ChemistryChinese Academy of SciencesShanghai Key Laboratory of Aging StudiesShanghai 201210China State Key Laboratory of Common Mechanism Research for Major Diseases Haihe Laboratory of Cell EcosystemDepartment of PhysiologyInstitute of Basic Medical Sciences and School of Basic MedicineChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina

Amyotrophic lateral sclerosis(ALS)is a devastating fatal neurodegenerative disease with no ***-interacting protein kinase 1(RIPK1)has been proposed to mediate pathogenesis of *** has been identified as an old drug that can also inhibit RIPK1 *** conducted a drug-repurposing biomarker study of primidone as a RIPK1 inhibitor using SOD1G93A mice and ALS ***1G93A mice treated with primidone showed significant delay of symptomatic onset and improved motor ***-hundred-sixty-two ALS participants dosed daily with primidone(62.5 mg)completed 24-week follow-up.A significant reduction was showed in serum levels of RIPK1 and IL-8,which were significantly higher in ALS patients than that of healthy controls(P<0.0001).Serum RIPK1 levels were correlated positively with the severity of bulbar symptoms(P<0.05).Our study suggests that serum levels of RIPK1 and IL-8 in peripheral can be used as clinical biomarkers for the activation of RIPK1 in central nervous system in human ALS *** primidone may provide a promising therapeutic strategy for *** effect of primidone for the treatment of other inflammatory diseases may also be considered,since the activation of RIPK1 has been implicated in mediating a variety of inflammatory diseases including COVID-19-associated cytokine release syndrome(CRS).(ChiCTR2200060149).

关键词： RIPK1 diseases Serum

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Clinical review and literature analysis of hepatic epithelioid angiomyolipoma in alcoholic cirrhosis: A case report

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World Journal of Clinical Cases 2024年第14期12卷 2382-2388页

作者： Jing-Qiang Guo jia-Hui Zhou Kun Zhang Xin-liang Lv Chao-Yong Tu Department of Hepatobiliary and Pancreatic Surgery Lishui Municipal Central HospitalLishui 323000Zhejiang ProvinceChina Department of Pathology Lishui Municipal Central HospitalLishui 323000Zhejiang ProvinceChina Department of General Surgery The Fifth Affiliated Hospital of Wenzhou Medical UniversityLishui 323000Zhejiang ProvinceChina

BACKGROUND Hepatic epithelioid angiomyolipoma(HEA)has a low incidence and both clinical manifestations and imaging lack ***,it is easy to misdiagnose HEA as other tumors of the liver,especially in the presence of liver diseases such as hepatitis *** article reviewed the diagnosis and treatment of a patient with HEA and alcoholic cirrhosis,and analyzed the literature,in order to improve the understanding of this *** SUMMARY A 67-year-old male patient with a history of alcoholic cirrhosis was admitted due to the discovery of a space-occupying lesion in the *** on the patient’s history,laboratory examinations,and imaging examinations,a malignant liver tumor was considered and laparoscopic partial hepatectomy was *** pathology showed *** outpatient follow-up,the patient showed no sign of *** HEA is difficult to make a definite diagnosis before *** has the poten-tial for malignant *** conditions permit,surgical treatment is recom-mended.

关键词： Hepatic epithelioid angiomyolipoma Alcoholic cirrhosis Magnetic resonance imaging Computed tomography Immunohistochemistry Misdiagnose analysis Case report

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Production and characterization of monoclonal antibodies against grass carp CD4-1 and CD4-2

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Aquaculture and Fisheries 2024年第2期9卷 154-163页

作者： Bangjie Wang Yuting Qin Zhaosheng Sun Xiaozhen Zhu Zhao jia Kangyong Chen Danjie Liu Junya Wang Jun zou Key Laboratory of Exploration and Utilization of Aquatic Genetic Resources Ministry of EducationShanghai Ocean UniversityShanghai201306China International Research Center for Marine Biosciences at Shanghai Ocean University Ministry of Science and TechnologyShanghai201306China National Demonstration Center for Experimental Fisheries Science Education Shanghai Ocean UniversityShanghai201306China Laboratory for Marine Biology and Biotechnology Qingdao National Laboratory for Marine Science and TechnologyQingdao266071China

CD4 T helper cells are an important group of cells in the immune system of vertebrates and express CD4 receptor on the cell *** mammals,the CD4 receptor is encoded by a single copy gene,whilst in fish,two copies of cd4 genes,namely cd4-1 and cd4-2,are *** this study,the ectodomains of grass carp(Ctenopharyngodon idella,Ci)CD4-1 and CD4-2 were expressed in the *** cells and used to generate monoclonal antibodies in *** blotting,confocal microscopy and flow cytometry were performed to characterize the monoclonal *** has been shown that the CiCD4-1 and CiCD4-2 monoclonal antibodies had good specificity to react with the recombinant ectodomains of CiCD4-1 and CiCD4-2 expressed in the CHO-S cells and the native CD4 molecules of grass *** CiCD4-1 monoclonal antibody did not recognize CiCD4-2 and verse *** addition,the CD4-1 and CD4-2 monoclonal antibodies specifically recognized the CD4-1 and CD4-2 receptors expressed in the HEK293 cells and native molecules of fish ***,the percentages of lymphocytes in immune tissues of healthy fish were analyzed by flow *** was found that 17.6%of lymphocytes were CD4-1^(+)cells and 22.5%were CD4-2^(+)in the head *** the spleen,13.1%of lymphocytes were CD4-1^(+)and 18.6%were CD4-2^(+)while 7.3%of blood lymphocytes were CD4-1^(+)cells and 8.8%were CD4-2^(+)*** availability of the CD4-1 and CD4-2 monoclonal antibodies provides antibody-based tools for further elucidation of the functions of CD4 T cells in grass carp.

关键词： Grass carp CD4 Monoclonal antibodies Flow cytometry Confocal microscopy

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Noninvasive Diagnostic Technique for Nonalcoholic Fatty Liver Disease Based on Features of Tongue Images

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Chinese Journal of Integrative Medicine 2024年第3期30卷 203-212页

作者： WANG Rong-rui CHEN jia-liang DUAN Shao-jie LU Ying-xi CHEN Ping ZHOU Yuan-chen YAO Shu-kun Graduate School of Beijing University of Chinese Medicine Beijing100029China Department of Gastroenterology China-Japan Friendship HospitalBeijing100029China Center of Integrative Medicine Beijing Ditan HospitalCapital Medical UniversityBeijing100015China Nanjing Linkwah Micro-electronics Institute Beijing100191China Institute of Microelectronics Tsinghua UniversityBeijing100084China Peking University China-Japan Friendship School of Clinical Medicine Beijing100029China

Objective:To investigate a new noninvasive diagnostic model for nonalcoholic fatty liver disease(NAFLD) based on features of tongue ***:Healthy controls and volunteers confirmed to have NAFLD by liver ultrasound were recruited from China-Japan Friendship Hospital between September 2018 and May 2019,then the anthropometric indexes and sampled tongue images were *** tongue images were labeled by features,based on a brief protocol,without knowing any other clinical data,after a series of corrections and data *** algorithm was trained on images using labels and several anthropometric indexes for inputs,utilizing machine learning ***,a logistic regression algorithm and a decision tree model were constructed as 2 diagnostic models for ***:A total of 720 subjects were enrolled in this study,including 432 patients with NAFLD and 288 healthy *** them,482 were randomly allocated into the training set and 238 into the validation *** diagnostic model based on logistic regression exhibited excellent performance:in validation set,it achieved an accuracy of 86.98%,sensitivity of 91.43%,and specificity of 80.61%;with an area under the curve(AUC) of 0.93 [95% confidence interval(CI) 0.68–0.98].The decision tree model achieved an accuracy of 81.09%,sensitivity of 91.43%,and specificity of 66.33%;with an AUC of 0.89(95% CI 0.66–0.92) in validation ***:The features of tongue images were associated with *** the 2 diagnostic models,which would be convenient,noninvasive,lightweight,rapid,and inexpensive technical references for early screening,can accurately distinguish NAFLD and are worth further study.

关键词： nonalcoholic fatty liver disease noninvasive diagnosis tongue image tongue diagnosis Chinese medicine machine learning

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Design and performance evaluation of a large field-of-view dual-particle time-encoded imager based on a depth-of-interaction detector

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Nuclear Science and Techniques 2024年第4期35卷 1-14页

作者： Dong Zhao Xu-Wen liang Ping-Kun Cai Wei Cheng Wen-Bao jia Da-Qian Hei Qing Shan Yong-Sheng Ling Chao Shi Department of Nuclear Science and Technology Nanjing University of Aeronautics and AstronauticsNanjing 211106China Collaborative Innovation Center of Radiation Medicine of jiangsu Higher Education Institutions Suzhou 215000China School of Nuclear Science and Technology Lanzhou UniversityLanzhou 730000China

Time-encoded imaging is useful for identifying potential special nuclear materials and other radioactive sources at a *** this study,a large field-of-view time-encoded imager was developed for gamma-ray and neutron source hotspot imaging based on a depth-of-interaction(DOI)*** imager primarily consists of a DOI detector system and a rotary dual-layer cylindrical coded *** EJ276 plastic scintillator coupled with two SiPMs was designed as the DOI detector to increase the field of view and improve the imager *** difference in signal time at both ends and the log of the signal amplitude ratio were used to calculate the interaction position *** position resolution of the DOI detector was calibrated using a collimated Cs-137 source,and the full width at half maximum of the reconstruction position of the Gaussian fitting curve was approximately 4.4 *** DOI detector can be arbitrarily divided into several units to independently reconstruct the source distribution *** unit length was optimized via Am-Be source-location experiments.A multidetector filtering method is proposed for image *** method can effectively reduce image noise caused by poor DOI detector position *** vertical field of view of the imager was(-55°,55°)when the detector was placed in the center of the coded mask.A DT neutron source at 20 m standoff could be located within 2400 s with an angular resolution of 3.5°.

关键词： Time-encoded imager Depth-of-interaction detector Dual-particle imaging Hotspot imaging

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Impact of volcanism on the formation and hydrocarbon generation of organic-rich shale in the Jiyang Depression, Bohai Bay Basin, China

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Petroleum Science 2024年第3期21卷 1539-1551页

作者： jia-Hong Gao Xin-Ping liang Zhi-Jun Jin Quan-You Liu Chang-Rong Li Xiao-Wei Huang Ju-Ye Shi Peng Li State Key Laboratory of Shale Oil and Gas Enrichment Mechanisms and Efficient Development Institute of EnergyPeking University Petroleum Exploration and Production Research Institute SINOPECBeijing100871 China School of Energy Resources China University of Geosciences Beijing100083 China

Globally,most organic-rich shales are deposited with volcanic ash *** ash,a source for many sedimentary basins,can affect the sedimentary water environment,alter the primary productivity,and preserve the organic matter(OM)through physical,chemical,and biological *** an increasing number of breakthroughs in shale oil exploration in the Bohai Bay Basin in recent years,less attention has been paid to the crucial role of volcanic impact especially its influence on the OM enrichment and hydrocarbon ***,we studied the petrology,mineralogy,and geochemical characteristics of the organic-rich shale in the upper submember of the fourth member(Es_(4)^(1))and the lower submember of the third member(Es_(3)^(3))of the Shahejie Formation,aiming to better understand the volcanic impact on organic-rich shale *** results show that total organic carbon is higher in the upper shale intervals rich in volcanic ash with enriched light rare earth elements and moderate Eu *** indicates that volcanism promoted OM formation before or after the *** positive correlation between Eu/Eu*and Post-Archean Australian Shale indicates hydrothermal activity before the volcanic *** plane graph of the hydrocarbon-generating intensity(S1+S2)suggests that the heat released by volcanism promoted hydrocarbon ***,the nutrients carried by volcanic ash promoted biological blooms during Es_(4)^(1 )and Es_(3)^(3) deposition,yielding a high primary *** blooms consume large amounts of oxygen and form anoxic environments conducive to the burial and preservation of ***,this study helps to further understand the organic-inorganic interactions caused by typical geological events and provides a guide for the next step of shale oil exploration and development in other lacustrine basins in China.

关键词： Volcanic ash Hydrocarbon generation Organic-rich shale Shahejie Formation Jiyang Depression

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Detection of astrophysical gravitational wave sources by TianQin and LISA

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Science China(Physics,Mechanics & Astronomy) 2024年第5期67卷 123-163页

作者： Alejandro Torres-Orjuela Shun-jia Huang Zheng-Cheng liang Shuai Liu Hai-Tian Wang Chang-Qing Ye Yi-Ming Hu jianwei Mei MOE Key Laboratory of Tian Qin Mission Tian Qin Research Center for Gravitational PhysicsSchool of Physics and AstronomyFrontiers Science Center for Tian QinGravitational Wave Research Center of CNSASun Yat-Sen University(Zhuhai Campus)Zhuhai 519082China Department of Physics The University of Hong KongHong Kong 999077China Kavli Institute for Astronomy and Astrophysics Peking UniversityBeijing100871China

TianQin and LISA are space-based laser interferometer gravitational wave(GW)detectors planned to be launched in the *** detectors will detect low-frequency GWs around 10^(-2)Hz;however,Tian Qin is more sensitive to frequencies above this common sweet-spot while LISA is more sensitive to frequencies below 10^(-2)***,Tian Qin and LISA will be able to detect the same sources but with different accuracy depending on the source and its *** consider some of the most important astrophysical sources—massive black hole binaries,stellar-mass black hole binaries,double white dwarfs,extreme mass ratio inspirals,light and heavy intermediate mass ratio inspirals,as well as the stochastic gravitational background of astrophysical origin—that Tian Qin and LISA will be able to *** each of these sources,we analyze how far they can be detected(detection distance)and how well their parameters can be measured(detection accuracy)using a Fisher Matrix *** compare the results obtained by the three detection scenarios(Tian Qin alone,LISA alone,and joint detection by LISA and Tian Qin)highlighting the gains from joint detection as well as the contribution of Tian Qin and LISA to a combined study of astrophysical *** particular,we consider the different orientations,lifetimes,and duty cycles of the two detectors to explore how they can give a more complete picture when working together.

关键词： wave extreme stochastic

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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 *** 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%,***,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 *** model maintains an exceptionally high level of segmentation accuracy while substantially reducing training *** 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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An Effective Power Optimization Approach Based on Whale Optimization Algorithm with Two-Populations and Mutation Strategies

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Chinese Journal of Electronics 2024年第2期33卷 423-435页

作者： Juncai HE Zhenxue HE jia LIU Yan ZHANG Fan ZHANG Fangfang liang Tao WANG Limin XIAO Xiang WANG Hebei Agricultural University Beijing Information Science and Technology University School of Computer Science and Engineering Beihang University School of Electronic and Information Engineering Beihang University

Power is an issue that must be considered in the design of logic circuits. Power optimization is a combinatorial optimization problem, since it is necessary to search for a logical expression that consumes the least amount of power from a large number of Reed-Muller(RM) logical expressions. The existing approach for optimizing the power of multi-output mixed polarity RM(MPRM) logic circuits suffer from poor optimization results. To solve this problem, a whale optimization algorithm with two-populations strategy and mutation strategy(TMWOA) is proposed in this paper. The two-populations strategy speeds up the convergence of the algorithm by exchanging information about the two-populations. The mutation strategy enhances the ability of the algorithm to jump out of the local optimal solutions by using the information of the current optimal solution. Based on the TMWOA, we propose a multi-output MPRM logic circuits power optimization approach(TMMPOA). Experiments based on the benchmark circuits of the Microelectronics Center of North Carolina(MCNC) validate the effectiveness and superiority of the proposed TMMPOA.

关键词： Logic circuits Benchmark testing Search problems Whale optimization algorithms Microelectronics Optimization Convergence

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