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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

Misdiagnosis of synovial sarcoma-cellular myofibroma with SRFRELA gene fusion:A case report

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World Journal of Clinical Cases 2024年第7期12卷 1326-1332页

作者： Ying Zhou Yi-wen Sun xiao-Yang Liu Dan-Hua Shen Department of Pathology Peking University People’s HospitalBeijing 100044China

BACKGROUND Cellular myofibroma is a rare subtype of myofibroma that was first described in *** diagnosis is often challenging because of its relative rarity,lack of known genetic abnormalities,and expression of muscle markers that can be confused with sarcomas that have myogenic ***,scholars have limited knowledge of this disease,and published cases are *** accumulation of diagnostic and treatment experiences is *** SUMMARY A 16-year-old girl experienced left upper limb swelling for 3 *** sought medical attention at a local hospital 10 months ago,where magnetic resonance imaging revealed a 5-cm soft tissue *** biopsy performed at a local hospital resulted in the diagnosis of a spindle cell soft tissue *** patient was referred to our hospital for limb salvage surgery with endoprosthetic *** was initially diagnosed with a synovial ***,clinical management with chemotherapy was continued for the malignant *** pathology department also performed fluorescence in situ hybridization for result validation,which returned negative for SS18 gene breaks,indicating that it was not a synovial ***-generation sequencing was used to identify the SRF-RELA *** final pathological diagnosis was a cellular/myofibroblastic neoplasm with an SRF-RELA gene *** patient had initially received two courses of chemotherapy;however,chemotherapy was discontinued after the final *** This case was misdiagnosed because of its rare occurrence,benign biological behavior,and pathological similarity to soft tissue sarcoma.

关键词： Cellular myofibroma SRF RELA Fusion Pathology Case report

Relationship of Retinal Nerve Fiber Layer Thickness and Retinal Vessel Calibers with Cognitive Impairment in the Asymptomatic Polyvascular Abnormalities Population

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Biomedical and Environmental Sciences 2024年第2期37卷 196-203页

作者： WANG Dan Dan WANG An Xin ZHANG xiao Li WEI wen Bin WU Shou Ling ZHAO Xing Quan Department of Neurology Beijing Tiantan HospitalCapital Medical UniversityBeijing 100070China China National Clinical Research Center for Neurological Diseases Beijing 100070China Beijing Tongren Eye Center Beijing Key Laboratory of Ophthalmology and Visual ScienceBeijing Tongren HospitalCapital Medical UniversityBeijing 100005China Department of Cardiology Kailuan HospitalTangshan 063001HebeiChina

Objective Cognitive impairment(CI)in older individuals has a high morbidity rate worldwide,with poor diagnostic methods and susceptible population *** study aimed to investigate the relationship between different retinal metrics and CI in a particular population,emphasizing polyvascular *** We collected information from the Asymptomatic Polyvascular Abnormalities Community Study on retinal vessel calibers,retinal nerve fiber layer(RNFL)thickness,and cognitive function of 3,785participants,aged 40 years or *** regression was used to analyze the relationship between retinal metrics and cognitive *** stratified by different vascular statuses were also *** RNFL thickness was significantly thinner in the CI group(odds ratio:0.973,95%confidence interval:0.953–0.994).In the subgroup analysis,the difference still existed in the non-intracranial arterial stenosis,non-extracranial carotid arterial stenosis,and peripheral arterial disease subgroups(P<0.05).Conclusion A thin RNFL is associated with CI,especially in people with non-large vessel *** underlying small vessel change in RNFL and CI should be investigated in the future.

关键词： Retinal nerve fiber layer Cognitive impairment Polyvascular abnormality

Solidification behaviour and hot cracking susceptibility of a novel Ni-based superalloy

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Journal of Iron and Steel Research(International) 2024年第4期31卷 956-966页

作者： Yue Chen Shao-min Lv Xing-fei Xie xiao-can wen Jng-long Qu Jin-hui Du High-Temperature Materials Institute China Iron and Steel Research Institute Group Co.Ltd.Beijing 100081China Beijing GAONA Materials and Technology Co. Ltd.Beijing 100081China Sichuan CISRI-GAONA Forging Co. Ltd.Deyang 610000SichuanChina

A novel Ni-based superalloy GH4151,with a γ′ volume fraction of about 55%and a service temperature capability up to 8oo oC,was *** to the different cooling conditions of various regions during the solidification of ingots,significant cooling rate variations may lead to the occurrence of hot *** scanning laser microscope was utilised to investigate the solidification process and phase precipitation behaviour of the GH4151 under wide range cooling *** characteristics of L→γ transformation were analysed,and the growth rates of at each stage were *** segregation behaviour was predicted using the Scheil equation,and the predicted results match well with the experimental *** sensitivity coefficient for hot cracking was modified,and cracking sensitivity coefficient values for the alloy under different cooling rates were computed,revealing that the alloy is most susceptible to hot cracking at 10℃/min cooling ***,controlling the cooling rate can reduce the possibility of hot cracking in ingot.

关键词： Ni-based superalloy Solidification behaviour In-situ observation Clyne and Davies's criterion:Hot cracking susceptibility

Sensing properties and mechanisms of LaF_(3)-Co_(3)O_(4) nanorods for low-concentration methanol detection

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Rare Metals 2024年第5期43卷 2193-2204页

作者： xiao-Xi He Hong-Feng Chai Yi-wen Zhou Ke-Wei Liu Ze-Xin Yu Chao Zhang College of Mechanical Engineering Yangzhou UniversityYangzhou225127China Institutefor Manufacturing Technologies of Ceramic Components and Composites(IMTCCC) University of Stuttgart70569 StuttgartGermany

Methanol is one of the characteristic gases that distinguish between healthy individuals and lung cancer(LC)lesions in exhaled human *** concentration in exhaled breath is generally below one part per million(1×10^(-6)).The second-phase composite is widely regarded as one of the methods to improve the gas-sensing perfor-mance of metal oxide semiconductor(MOS)*** this study,LaF_(3)-Co_(3)O_(4) was synthesized by a simple hydrothermal method to enhance its low-concentration methanol gas-sensing performance.5 at%LaF_(3)-Co_(3)O_(4) nanorods exhibited excellent methanol detection performance,including a wider linear detection concentration range(0.2×10^(-6)~5×10^(-6)),a response value exceeding 4.0 for 1×10^(-6)methanol at 275°C and 75%relative humidity(RH),long-term stability(maximum deviation within 15%over 2 weeks),and excellent *** mechanism of performance enhancement was studied using various techniques,and density functional *** special spinel structure of Co_(3)O_(4),the high ionic migration of F-in LaF_(3),the larger specific surface area of 5 at%LaF_(3)-Co_(3)O_(4) nanorods,and the generated crystal defects all explain the excellentmethanol gas-sensing *** work provides a novel route to prepare MOS composite materials for low-concentration methanol gas detection.

关键词： Gas sensor LaF_(3) Co_(3)O_(4) Methanol Lung cancer

Dynamic foraging strategy adaptation to heterogeneous environments contributes to social aggregation in snub-nosed monkeys

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Zoological Research 2024年第1期45卷 39-54页

作者： Lan Zhao Sheng-Nan Ji xiao-bing Du Jia-Hui Liu Bo-Lun Zhang Pei-Hua Li Yi-Jun Yang Bao-Guo Li Yan-Qing Guo xiao-Guang Qi College of Life Sciences Northwest UniversityXi’anShaanxi 710069China Chengdu Institute of Biology Chinese Academy of SciencesChengduSichuan 610041China State Key Laboratory of Environmental Criteria and Risk Assessment Chinese Research Academy of Environmental SciencesBeijing 100012China

The dynamics of animal social structures are heavily influenced by environmental patterns of competition and *** folivorous colobine primates,prevailing theories suggest that larger group sizes should be favored in rainforests with a year-round abundance of food,thereby reducing feeding ***,paradoxically,larger groups are frequently found in high-altitude or high-latitude montane ecosystems characterized by a seasonal scarcity of *** contradiction is posited to arise from cooperative benefits in heterogeneous *** investigate this hypothesis,we carried out a six-year field study on two neighboring groups of golden snub-nosed monkey(Rhinopithecus roxellana),a species representing the northernmost distribution of colobine *** showed that the groups adjusted their movement and habitat selection in response to fluctuating climates and spatiotemporal variability of resources,indicative of a dynamic foraging ***,during the cold,resource-scarce conditions in winter,the large group occupied food-rich habitats but did not exhibit significantly longer daily travel distances than the smaller neighboring ***,we compiled an eco-behavioral dataset of 52 colobine species to explore their evolutionary *** of this dataset suggested that the increase in group size may have evolved via home range expansion in response to the cold and heterogeneous climates found at higher altitudes or ***,we developed a multi-benefits framework to interpret the formation of larger groups by integrating environmental *** cold and diverse environments,even smaller groups require larger home ranges to meet their dynamic survival *** spatiotemporal distribution of high-quality resources within these expanded home ranges facilitates more frequent interactions between groups,thereby encouraging social aggregation into larger *** process enhances the benefits of collabor

关键词： Social evolution Folivore paradox MLS Rhinopithecus roxellana Multi-benefits framework

Research on casing deformation prevention technology based on cementing slurry system optimization

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Petroleum Science 2024年第2期21卷 1231-1240页

作者： Yan Yan Meng Cai wen-Hai Ma xiao-Chuan Zhang Li-Hong Han Yong-Hong Liu State Key Laboratory for Performance and Structure Safety of Petroleum Tubular Goods and Equipment Materials CNPC Tubular Goods Research InstituteXi©an710077ShaanxiChina College of Mechanical and Electrical Engineering China University of Petroleum(East China)Qingdao266580ShandongChina Shale Gas Evaluation and Exploitation Key Laboratory of Sichuan Province Chengdu610095SichuanChina CNPC Daqing Oilfield Company Daqing163453HeilongjiangChina

The casing deformation prevention technology based on the optimization of cement slurry is proposed to reduce the casing deformation of shale oil and gas wells during hydraulic fracturing. In this paper, the fracture mechanism of hollow particles in cement sheath was firstly analyzed by discrete element method, and the effect of hollow particles in cement on casing deformation was investigated by laboratory experiment method. Finally, field test was carried out to verify the improvement effect of the casing deformation based on cement slurry modification. The results show that the formation displacement can be absorbed effectively by hollow particles inside the cement transferring the excessive deformation away from casing. The particles in the uncemented state provide deformation space during formation slipping. The casing with diameter of 139.7 mm could be passed through by bridge plug with the diameter of 99 mm when the mass ratio of particle/cement reaches 1:4. According to the field test feedback, the method based on optimization of cement slurry can effectively reduce the risk of casing deformation, and the recommended range of hollow microbeads content in the cement slurry is between 15% and 25%.

关键词： Cement slurry Hollow ceramsite Casing deformation Formation slip Field test

Accurate Quantification of Pure Thiacloprid with Mass Balance and Quantitative H-NMR

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Journal of Analysis and Testing 2024年第1期8卷 1-8页

作者： Mengling Tu Wei Zhang Yunxiao Zhu wen Ma xiao Li Shukun Zhou Hongmei Li Xianjiang Li Key Laboratory of Chemical Metrology and Applications on Nutrition and Health for State Market Regulation Division of Metrology in ChemistryNational Institute of MetrologyBeijing 100029China State Key Laboratory of Heavy Oil Processing College of Chemical Engineering and EnvironmentChina University of PetroleumBeijing 102249China State Key Laboratory of Natural and Biomimetic Drugs School of Pharmaceutical SciencesPeking UniversityBeijing 100191China

Thiacloprid is the first-generation neonicotinoid insecticide,which is widely used in modern *** materials are essential for sound measurement and traceability of results in chemical *** thiacloprid was comprehensively assessed by two orthonormal methods:mass balance(MB) and quantitative nuclear magnetic resonance spectroscopy(qNMR).From MB,its mass fraction value was 998.4 mg/g with the subtraction of structurally related impurities(99.87%),inorganic impurities(0.006 mg/g),water(0.33 mg/g),and volatile organic solvent(0 mg/g).To guarantee sufficient separation of structurally related purity,peak purity of thiacloprid was evaluated by five points of UV *** the qNMR of hydrogen,its mass fraction value was 995.7 mg/g which was traced to the internal standard(methyl sulfone).Finally,the certified value was assigned to 997 mg/g,together with an expanded uncertainty of 3 mg/g(k=2).This high-purity thiacloprid can be applied to routine monitoring in agriculture and the food fields.

关键词： Mass balance Quantitative nuclear magnetic resonance spectroscopy Reference material Thiacloprid

Wetting front migration model of ion-adsorption rare earth during the multi-hole unsaturated liquid injection

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Journal of Rock Mechanics and Geotechnical Engineering 2024年第2期16卷 483-496页

作者： Yu Wang xiaojun Wang Yuchen Qiu Hao Wang Gang Li Kaijian Hu wen Zhong Zhongqun Guo bing Li Chunlei Zhang Guangxiang Ye Jiangxi Key Laboratory of Mining Engineering Jiangxi University of Science and TechnologyGanzhou341000China School of Resources and Environment Engineering Jiangxi University of Science and TechnologyGanzhou341000China School of Civil Engineering and Surveying&Mapping Engineering Jiangxi University of Science and TechnologyGanzhou341000China Ganzhou Nonferrous Metallurgy Research Institute Ganzhou341000China

In the process of ion-adsorption rare earth ore leaching,the migration characteristics of the wetting front in multi-hole injection holes and the influence of wetting front intersection effect on the migration distance of wetting fronts are still ***,wetting front migration distance and leaching time are usually required to optimize the leaching *** this study,wetting front migration tests of ionadsorption rare earth ores during the multi-hole fluid injection(the spacing between injection holes was 10 cm,12 cm and 14 cm)and single-hole fluid injection were completed under the constant water head *** the pre-intersection stage,the wetting front migration laws of ion-adsorption rare earth ores during the multi-hole fluid injection and single-hole fluid injection were *** the postintersection stage,the intersection accelerated the wetting front *** using the Darcy’s law,the intersection effect of wetting fronts during the multi-hole liquid injection was transformed into the water head height directly above the ***,based on the Green-Ampt model,a wetting front migration model of ion-adsorption rare earth ores during the multi-hole unsaturated liquid injection was *** analysis results showed that the proposed model can accurately simulate the infiltration process under experimental *** research results enrich the infiltration law and theory of ion-adsorption rare earth ores during the multi-hole liquid injection,and this study provides a scientific basis for optimizing the liquid injection well pattern parameters of ion-adsorption rare earth in situ leaching in the future.

关键词： Ion-adsorption rare earth ore Multi-hole unsaturated liquid injection In situ leaching Intersection effect Calculation model