25 results on '"Cui J"'
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2. Qualité méthodologique des études contrôlées randomisées. Une étude sur 5 ans de 7 Journaux d’Orthopédie selon les critères CONSORT, accessibles en Chine
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Zhang, J., Chen, X., Zhu, Q., Cui, J., Cao, L., and Su, J.
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- 2016
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3. Advances in microcirculation monitoring and physical factor therapy techniques in diabetic foot
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Ma Jinlong, Cui Jinjiang, Xu Jiangen, Fang Yinpeng, Liu Zhuang, Zhang Hualiang, and Yang Wen
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Microbiology ,QR1-502 ,Physiology ,QP1-981 ,Zoology ,QL1-991 - Abstract
Diabetic foot is one of the most severe complications of diabetes. It is caused by high blood sugar, resulting in combined neuropathy and various degrees of peripheral vascular disease, leading to local microcirculation disorders. This condition can trigger infections, ulcers, and deep tissue damage in the lower limbs. In severe cases, gangrene may occur, leading to amputation. Therefore, timely microcirculation monitoring of the feet in diabetic patients can help detect early blood supply issues. Prompt and effective intervention and treatment for diabetic patients with microcirculation disorders in the feet can prevent the occurrence and development of diabetic foot. Physical factor therapy utilizes various forms of physical energy to induce reactions in the body, such as dilating blood vessels, increasing blood flow, and promoting tissue blood supply. Simultaneously, it stimulates nerves and muscles, aiding in improving nerve conduction and promoting nerve regeneration. This helps prevent and improve microcirculation disorders in diabetic feet. This article outlines the microcirculation disorders in diabetic feet, along with monitoring and treatment methods. It focuses on the principles and efficacy of common physical factor methods for microcirculation intervention, as well as research advancements in their clinical application for diabetic foot. This information serves as a reference for the treatment and adjunctive research of diabetic foot.
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- 2024
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4. An Empirical Study of Purchase Intention of Macau Tourists Based on Multiple Linear Regression -- Take the Ruins of St. Paul’s as an example
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Cui Jiayang
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Social Sciences - Abstract
The rapid development of Macao’s tourism economy has attracted a large number of domestic and foreign tourists to visit famous scenic spots in Macau, including the Ruins of St. Paul. The research object is to explore the impact of tourist factors on tourist attractions in Macau on their purchase intentions: (1) the impact of tourists coming to Macao on the local economy; (2) whether the infrastructure, service quality and other factors of local attractions in Macao are trusted by tourists; (3) based on the above factors, the willingness of tourists to consume in Macao. In order to study the future development direction of Macau’s tourism economy as well as to discover the existing problems in the tourism industry, this paper takes the Ruins of St. Paul’s attraction as the blueprint of the survey, and uses multiple linear regression to quantitatively analyze the six dimensions of Infrastructure Construction (IC), Public Transportation Services (PTS), Marketing Services (MS), Tourism Supervision Services (TSS), Perceived Trust Level (PTL), and Visitors’ Willingness to Spend Money at the Attraction (The six dimensions of PI) were quantitatively analyzed to derive the level of satisfaction regarding travelers’ visit to the St. Paul’s Pavilion, and ultimately the path coefficients associated with each variable. The results of the study revealed that :(1) When tourists visit the Ruins of St. Paul in Macao, the infrastructure, public transportation, market services, and trust of tourists in the attraction have a significant positive impact on the purchase decision of tourists, while the local tourism services have no significant impact on the purchase decision. (2) There is a positive correlation between tourists’ evaluation of the infrastructure, public transportation, market services and tourism supervision of the big three buses, and (3) the above factors are positively related to their trust in scenic spots and willingness to buy, indicating that there is a certain relationship between different variables. The results of this analysis and the corresponding conclusions drawn provide a reference for enhancing the overall tourism development of the city of Macau.
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- 2024
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5. Impact of Digital Transformation on Corporate Innovation--Empirical evidence from public companies
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Cui Jianing
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ahp hierarchical analysis ,digital transformation ,listed companies ,corporate innovation ,Social Sciences - Abstract
In the context of comprehensive penetration and cross-border integration of information technology, digital transformation of enterprises has become an important way to accelerate enterprise innovation and lead economic innovation growth, injecting new vitality into enterprises. Based on the textual information of annual reports of A-share listed companies from 2011-2021, this paper constructs a measure of digital transformation and systematically examines the impact of digital transformation on corporate innovation output and its impact mechanism. It is found that there is a significant positive relationship between digital transformation and innovation output of enterprises, and the finding is robust. The mechanism test indicates that corporate digital transformation promotes corporate innovation by increasing innovation inputs and promoting corporate learning effects. Further study found that the promotion effect of corporate digital transformation on corporate innovation was more pronounced in large enterprises, high-tech enterprises, stateowned enterprises, enterprises whose executives have master’s degrees, and enterprises in relatively close geographical proximity to the eastern region. This study not only enriches the empirical research on the consequences of digital transformation and the mechanism of enterprises using new dynamic energy to enhance transformation, but also has important implications for promoting the layout adjustment of national digital innovation-driven strategies.
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- 2023
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6. Application of Machine Learning in Digital Human Resource Management
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Cui Jiayi and Gu Yang
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Social Sciences - Abstract
In today's high-speed information age, many problems of the traditional human resource management (HRM) system make it impossible to effectively analyze massive data in today's enterprise competition and development. Machine learning, as a novel field of research in computer science in recent decades, provides a potential solution to the current problems faced by HRM systems. This study focuses on strategic HRM, an essential means of shaping employee behavior, and a vital information transmission channel in the CEO's transformational leadership behavior. By reviewing past literature on machine learning and exploring the principles of the practical application of machine learning in HRM, this paper also focuses on the intermediary mechanism between enterprise performance and the latest progress in machine learning and HRM. Further, the study tries to summarize and refine the opportunities and challenges that HRM faces in developing HRM and possible future research directions and hotspots.
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- 2023
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7. Research on the Evolution of Journal Topic Mining Based on the BERT-LDA Model
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Tang Guofeng, Chen Xuhui, Li Ning, and Cui Jianfeng
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Social Sciences - Abstract
Scientific papers are an important form for researchers to summarize and display their research results. Information mining and analysis of scientific papers can help to form a comprehensive understanding of the subject. Aiming at the ignorance of contextual semantic information in current topic mining and the uncertainty of screening rules in association evolution research, this paper proposes a topic mining evolution model based on the BERT-LDA model. First, the model combines the contextual semantic information learned by the BERT model with the word vectors of the LDA model to mine deep semantic topics. Then construct topic filtering rules to eliminate invalid associations between topics. Finally, the relationship between themes is analyzed through the theme evolution, and the complex relationship between the themes such as fusion, diffusion, emergence, and disappearance is displayed. The experimental results show that, compared with the traditional LDA model, the topic mining evolution model based on BERTLDA can accurately mine topics with deep semantics and effectively analyze the development trend of scientific and technological paper topics.
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- 2023
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8. Research on MVB conformance test system
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Cui Jinxue and Han Bin
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mvb ,conformance test ,tcn ,Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
The design and implementation of the MVB conformance test system is of great significance in both professional theory and practical application. Conformance test for MVB, mainly to determine whether the MVB equipment IUT is consistent with the MVB protocol standard requirements in the TCN standard. The conformance test of MVB equipment IUT covers most of the contents of the RTP real-time protocol such as the physical layer, link layer, network layer, transport layer and application layer. This subject will analyse and study the consistency test of the MVB physical layer.
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- 2022
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9. Analysis of Backup Protection Action of a Transformer Caused by Improper Implementation of Voltage Regulation Measures
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Chen Yu, Ding Hongcheng, Zhang Junwei, Ding Ganghui, Cui Jun, and Hu Shengzhi
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Environmental sciences ,GE1-350 - Abstract
It is an effective measure for power enterprises to improve the voltage level of the system by raising and lowering the tap position of the main transformer. For the parallel operation of the main transformer, the whole process of adjusting the tap must strictly meet the conditions of parallel operation. Aiming at a case of backup protection action of main transformer caused by improper implementation of voltage regulation measures, this paper analyzes the uneven load distribution and increase of reactive power loss caused by improper adjustment of tap, and the analysis results are verified by PSCAD.
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- 2021
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10. Application of the general matching law on the study of multi-coated radar absorbing materials
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Zhang Haifeng, Cui Jiubo, Pei Weiwei, and Wang Dongfang
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Environmental sciences ,GE1-350 - Abstract
In this paper, the Generalized Matching Law of electromagnetic parameters was given for in the application of radar absorbing materials, and applied in the research of absorbing properties of multi -coated absorbing materials. We gave the power reflection formula, defined the constant of general matching law M, and discussed the relationship of general matching constant M with power reflectivity RP, thickness d, relative permittivity εr, relative permeability μr. We found that the enhancement of RP was not obvious at the ε″r was optimized, but the μ″r was primary. In short, this is consistent with panorama analysis method.
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- 2020
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11. Numerical Simulation on goaf with different vertical distances in high-drainage roadways
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Yang Rili, Cui Jianbin, Yang Fengfeng, Zhang Jufeng, and Yu Lan
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Environmental sciences ,GE1-350 - Abstract
High drainage roadway horizon parameters not only influence goaf drainage effect, but also have effect on the air leakage field and spontaneous combustion three zones’ distribution in the goaf. Combined with mine fire-prevention and goaf spontaneous combustion three zones recognition, it was put forward to stimulate the distribution law of goaf air leakage field and spontaneous combustion three zones with fluid mechanics software FLUENT. The results showed that the width of goaf oxidization and heat accumulation zone increased with high drainage roadway vertically. Through stimulation study, it supplies a certain method to reasonablely optimizatate high drainage roadway vertical parameters, which to a great extent ensures mine safety production, fire and gas prevention.
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- 2020
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12. A CASSCF/CSAPT2 Study on the Reaction Pathways From HOSS to HSSO Radicals
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Zhang Haifeng, Cui Jiubo, Pei Weiwei, and Wang Dongfang
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Environmental sciences ,GE1-350 - Abstract
In this paper, we used the CASSCF/CASPT2 method to study the low-lying electronic states of the HOSS and HSSO radicals. Based on the Cs and C1 symmetries, the geometrical parameters, total energies, configurations, oscillator strengths, excitation energies, oscillator strengths and harmonic vibrational frequencies of the HOSS and HSSO radicals were calculated. We found that the ground state of HSSO radical with C1 symmetry has multi-configurational character, which leads to a significant difference of dihedral angles of HSSO radical among at our work and at References. Moreover, a transition state was given out in the pathway for the reaction from HOSS to HSSO. This transition state produces relatively high-energy barrier of 30.5 Kcal/mol corresponding to the gradual changes of the S2-H-O angle.
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- 2020
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13. A Theoretical Study on the Excited States of the KCCH Radical
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Zhang Haifeng, Cui Jiubo, Zhao Xiaodong, Wu Yunfei, Pei Weiwei, and Zhu Xuetong
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Environmental sciences ,GE1-350 - Abstract
Based on the C2v symmetry, the low-lying electronic states of the KCCH radical was studied in the complete active pace self-consistent field (CASSCF) and multi-configurational second-order perturbation theory (CASPT2) methods. For the low-lying electronic states of KCCH, the calculated harmonic vibrational modes are in agreement with theoretical reports. Moreover, the electron transitions of KCCH, from X1Σ+ to 21Σ+, 11Π, 21Π, 11Σ-, 13Σ+, 13Π, 23Π and 13Σ-, are predicted at 5.43, 5.59, 7.87, 5.50, 5.15, 5.73, 5.53 and 6.82 eV, respectively. The CASSCF/CASPT2 potential energy curves (PECs) were calculated for K+-loss dissociation from the 13Σ+, 23Σ+,13Π ,21Σ, 11Π and 21Π states. Analyses of electron transition and dissociation curves show the ionic properties in the metal–ligand bond for KCCH. The dissociation energy of the KCCH (X1Σ+)→CCH-(11Σ)+K+(S0) is 4.423 eV at the CASSCF/CASPT2 level.
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- 2020
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14. Effect of Light Simplified Cultivation Mode on Growth and Yield of Rice under Straw Returning Condition
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Cang Baifeng, Jiang Hao, Ma Rong, Li Yunzhe, Cui Jingjing, and Wu Zhihai
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Environmental sciences ,GE1-350 - Abstract
In order to study the application of light and simplified cultivation mode in straw returning field. In the experiment, two treatments of straw returning and non-straw returning were used under the light simplified cultivation mode, and the differences of tiller number, dry matter accumulation, leaf area index, chlorophyll and yield were studied. Field cultivation experiments were carried out with Jihong 9 and Jinongda 138. The results showed that the yields of Jihong 9 and Jinongda138 straw returning to the field under the light and simplified cultivation mode were 2.00% and 3.63% higher than those under the non-straw returning mode. The total grain number in the yield components increased by 3.35% and 11.60% respectively. Dry matter increased by 19.70% and 7.66% in mature period. The leaf area index (LAI) and SPAD value in the later period of straw returning were higher than those in the non-straw returning, and the number of effective tillers was lower. Light and simplified cultivation can be used as a new mode of rice high-yield cultivation under straw returning, which improves the total grain number, leaf area index, SPAD value and dry matter in the later stage, and increases rice yield. The yield advantage of Jinongda 138 under straw returning (SJ138) is more significant.
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- 2020
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15. Research on the operational regional coverage of satellite and spacecraft tracking and controlling
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Qi Lihua, Xing Dongqiu, Wang Rui, and Cui Jingna
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ground station ,flare angle ,coverage ,measurement and control circles ,Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
In view of the problem of building ground stations for tracking and controlling of satellites and spacecraft, considering the fixed angle between the orbit of the satellite or spacecraft and the equatorial surface of the earth, and the difference of longitude between the two circles in succession of the satellite or spacecraft caused by the rotation of the earth, the operation area of the satellite or spacecraft was calculated by using the method of spherical projection of satellite orbit rotation, taking the earth as the reference system. The minimum number of ground stations needed for satellite tracking and controlling was calculated in three cases, by using the mathematical model of sphere ring area and honeycomb coverage. This model was validated by the launch and operation data of Shenzhou 7.
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- 2020
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16. The Cause and Eliminate Method of Self-excited Oscillation in Long Cable Amplifier Circuits
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Wang Can, Huang Ming, Peng Zhaomin, and Cui Jinbao
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Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
SMA long cable distributed capacitance is easy to trigger broadband amplifier circuit’s self-oscillation. In this study we design an amplifier circuit based on OPA691 chip, discuss the influence of long cable’s distributed capacitance, then prompt a solution to add 50Ω compensation resistor between the output terminal and the load capacitance. According to the Tina simulation analysis, when 50Ω compensation resistor is added, bode diagrams show amplitude characteristic is smaller than 0 dB at -180 ° phase. The selfoscillation also disappeared in actual circuit measurement, which verify the rationality of this solution.
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- 2018
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17. Effect of Parameters of Isopipe on the Quality of Glass Sheet Produced from Overflow Fusion Process by Numerical Simulation
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Hou Yansheng, Cheng Jinshu, Kang Junfeng, Cui Jingjing, Xue Xinjian, and Zuo Dong
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Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
A numerical model for simulation of molten glass flow with semi-implicit method for pressure-linked equations (SIMPLE) and Volume of fluid (VOF) method during the overflow fusion process was carried out by using FLUENT software. The effect of the geometry parameters of the isopipe and flow rate of molten glass on the flow patterns during overflow was investigated. The results showed that the overflow trough depth only had an effect on the flow rate distribution of glass melt around the inlet point. The tilt angle at the top of the trough had a significant effect on flow rate distribution along the length of the trough, and the desired mass distribution was achieved at the tilt angle 4°∼6°. The flow rate had a large influence on the overflow of the molten glass, which had a directive significance to the overflow down draw sheet manufacturing process.
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- 2017
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18. Man-hour Estimation Model based on Standard Operation Unit for Flexible Manufacturing System
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Ye Zhenggeng, Cui Jiachao, and Zhou Fuli
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Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
In flexible manufacturing system, the estimation of man-hour is a difficult problem because of its production-diversity. To explore a more effective method, this paper tried to estimate man-hour from the perspective of operation`s character by establishing standard operation unit (SOU) in this paper. A method of parameterizing the SOU is proposed, and a new man-hour estimation model is established on the basis of SOU. At last, this paper verified the effectiveness of this method by the operation of large-scale welding parts.
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- 2017
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19. Research on I / Q Unbalanced Channel Reciprocity Calibration Algorithm in Massive MIMO System
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Cui Jinming, Yin Liang, Ma Yue, and Li Shufang
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Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
Massive MIMO system uses the transmitter channel state information (CSI) to preprocess the transmitted data, which can effectively reduce the interference and enhance the Massive MIMO system capacity. In the actual transmission process, reciprocity is subject to many factors, resulting in application difficulties. In this paper, we mainly study the influence of RF device’s noncardiosis on channel reciprocity of Massive MIMO system. Combined with channel estimation based on pilot signal and FRRH subspace tracking algorithm, this paper proposes a channel reciprocity calibration method for Massive MIMO. Finally, the compensation effect of the compensation algorithm is verified by simulation.
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- 2017
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20. The role of Purα in neuronal development, the relationship between Purα and epilepsy in the current researches
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Guo Shanshan, Zhang Bingying, Yuan Chengmin, Li Ping, Sun Tao, and Cui Jianqi
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Microbiology ,QR1-502 ,Physiology ,QP1-981 ,Zoology ,QL1-991 - Abstract
As a ubiquitous protein in the body, Purα has been considered to possess multiple regulatory functions from DNA replication and transcription to RNA transport and translation. The recent studies have proved that Purα protein played a vital role in neuronal development with the solid and abundant evidence both in transgenic mice and human genetic DNA analysis. The Purα knocked out mice models have been successfully established in two independent research groups and their results demonstrated that lack of Purα alters postnatal brain development. Mice lacking of Purα display decreased neurogenesis and impaired neuronal development. In the mouse brain, the expression level of Purα seems to be regulated with brain development. It starts to express Purα after birth and quickly reach to highest level in the third week. The recent studies also have proved that some neurodegenerative disease also linked with Purα, such as Fragile X-associated tremor/ataxia syndrome. rCGG-mediated neuronal toxicity could be modulated by heterogeneous nuclear ribonucleoprotein A2/B1 and Purα, which is rCGG-repeat-binding proteins. The 5q31.3 microdeletion syndrome is another disorders that is associated with the mutation of Purα gene, it has been demonstrated that all the symptoms such as the neurocognitive impairment, neurodevelopmental delay and learning disability are caused by the mutation of Purα gene. In this mini review, we will retrospectively review the current progress of Purα in neuronal development and try to figure out the connections between these observed phenomena and the biological function of Purα.
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- 2017
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21. An Anti-jamming Algorithm for Attitude Measurement Based on Antenna Array
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Cui Jian Hua, Cheng Nai Ping, and He Pan Feng
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Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
Aiming at the problems existing in the attitude measurement using carrier phase of navigation signal in the jamming environment, an antenna array for anti-jamming attitude measurement is constructed. The antenna array is constructed by three circle array with core. An anti-jamming measurement method based on antenna array is proposed. This method uses array antenna to estimate the direction of arrival jamming signal though MUSIC algorithm. Then the adaptive nulling algorithm based on the linear constrained minimum variance algorithm is used to eliminate the jamming and hold the navigation signal. Finally, the double difference method is used to measure the attitude. The whole attitude information is obtained by the attitude measurement of the two baselines. Simulation has been made for eliminating the jamming with adaptive nulling algorithm. Comparison of the attitude measurement accuracy is also made by simulation. The results show that the algorithm we proposed can significantly inhibit the jamming and improve the accuracy of attitude measurement.
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- 2016
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22. Trajectory Tracking Control of Underactuated USV with Model Perturbation and External Interference
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Liu Jinbiao, Luo Jun, Cui Jianxiang, and Peng Yan
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Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
This paper presents an improved trajectory tracking controller based backstepping control algorithm to address the trajectory tracking problem of an underactuated Unmanned Surface Vessel (USV). A Three Degree of Freedom (DOF) underactuated maneuvering motion model for water-jet-propelled USV is established, and controller can track both straight line trajectory and curve trajectory with relatively high accuracy. The stability of USV system is proved by BIBO (bounded-input-bounded-output stable) characteristics, then simulation experiments are carried out to demonstrate the robustness and precise control performance of the controller.
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- 2016
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23. Effect of deep cryogenic treatment and tempering on microstructure and mechanical behaviors of a wear-resistant austempered alloyed bainitic ductile iron
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Chen Liqing, Cui Junjun, and Tong Weiping
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Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
In this paper, the effect of deep cryogenic treatment in combination with conven- tional heat treatment process was investigated on microstructure and mechanical behaviors of alloyed bainitic ductile iron. Three processing schedules were employed to treat this alloyed ductile iron including direct tempering treatment, tempering.+deep cryogenic treatment and deep cryogenic treatment.+tempering treatments. The microstructure and mechanical behavior, especially the wear resistance, have been evaluated after treated by these three schedules. The results show that martensite microstructure can be obviously refined and the precipitation of dispersed carbides is promoted by deep cryogenic treatment at .−196 ∘C for 3 h after tempered at 450 ∘C for 2 h. In this case, the alloyed bainitic ductile iron possesses rather high hardness and wear-resistance than those processed by other two schedules. The main wear mechanism of the austempered alloyed ductile iron with deep cryogenic treatment and tempering is micro-cutting wear in association with plastic deformation wear.
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- 2015
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24. Variants exoniques rares et délétères au sein des gènes associés aux téloméropathies et risque de pneumopathies interstitielles diffuses associées à la polyarthrite rhumatoïde.
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Juge, P.A., Kawano, L., Gazal, S., Mcdermott, G., Hayashi, K., Cui, J., Debray, M.P., Wemeau-Stervinou, L., Marchand-Adam, S., Richez, C., Nunes, H., Avouac, J., Saidenberg-Kermanac'h, N., Kannengiesser, C., Borie, R., Crestani, B., Doyle, T., Raychaudhuri, S., Sparks, J., and Dieudé, P.
- Abstract
La pneumopathie interstitielle diffuse (PID) associée à la polyarthrite rhumatoïde (PR) et la fibrose pulmonaire idiopathique (FPI) partagent des facteurs de risque génétiques communs tels que MUC5B rs35705950. Le rôle exacte des gènes associés aux téloméropathies (telomere related genes, TRG) dans la PR-PID est inconnu. Notre objectif était de tester l'association entre PR-PID et la présence de variants exoniques rares et délétères. Dans cette étude cas-témoins génétique composée d'une étape de découverte (France) et de réplication (US), nous avons inclus des patients PR-PID (cas) et PR sans PID (témoins) disposant de données de séquençage d'exome. La présence ou l'absence de PID, ainsi que l'aspect scanographique étaient déterminés par TDM thoracique. Les variants exoniques de 14 TRG précédemment associés à des formes familiales de fibrose pulmonaires (TERT, TERC, PARN, RTEL1, CTC1, TINF2, ACD, POT1, NAF1, ZCCHC8, NHP2, NOP10, WRAP53, et DKC1) étaient filtrés selon leur fréquence (< 0.01 dans gnomAD) et leur caractère délétère prédits par plusieurs scores fonctionnels (SIFT, POLYPHEN-2 et CADD score). La proportion de porteurs de variants rares et délétères était comparée entre les cas et les témoins à l'aide d'un Burden test classique ajusté sur le sexe, l'âge, l'âge de début de la PR, la durée de la PR, le génotype MUC5B rs35705950 et les résultats d'une analyse en composante principale. L'étape de découverte était constituée de 388 patients, 157 cas (40,5 %), 237 femmes (70,4 %) âge moyen 60,1 ans. Un excès de variants exoniques rares et délétères était observé chez les cas (13/157, 8,3 %) comparativement aux témoins (8/231, 3,5 %), OR 2,83, IC 95 % 0,96-8,58 ; p = 0,06. Une association significative était observée seulement en cas de pneumopathies interstitielles communes (PIC), OR 4,66, IC 95 % 1,27-16,86 ; p = 0,02. L'étape de réplication a inclus 390 patients, 85 cas (21,8 %), 290 femmes (74,4 %), âge moyen 61,4 ans. Une tendance similaire était observée avec des variants rares et délétères identifies chez 9/85 (10,5 %) contre 19/305 (6,2 %) des témoins, OR 1,83, IC 95 % 0,72–4,33 ; p = 0,18. De même, cet excès était plus prononce chez les patients PR-PIC : 13,8 %, OR 2,26, IC 95 % 0,48–8,53 ; p = 0,26. La méta-analyse identifiait une contribution significative des variants exoniques rares et délétères des TRG à la PR-PID (OR 2,16, IC 95 % 1,09–4,26 ; p = 0,03), et plus spécifiquement au risque de PR-PID (OR 3,28, IC 95 % 1,30–8,27 ; p = 0,01) sans association significative pour la PR-nonPIC (OR 1,77, IC 95 % 0,79–3,96 ; p = 0,16). Les variants exoniques rares et délétères des TRG contribuent au risque de PR-PID, et plus spécifiquement à celui des PR-PIC. [ABSTRACT FROM AUTHOR]
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- 2023
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25. Identification de 23 nouveaux variants exoniques rares et non synonymes de COPA et description des phénotypes cliniques inflammatoires associés parmi 53 364 individus.
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Juge, P.A., David, C., Frémond, M.L., Kechiche, R., Mcdermott, G., Wobma, H., Cui, J., Hayashi, K., Raychaudhuri, S., Karlson, E., Dieudé, P., and Sparks, J.
- Abstract
Le syndrome COPA est une maladie monogénique auto-inflammatoire/auto-immune rare et sévère avec pénétrance variable, affectant le plus fréquemment les poumons et les articulations. Il est cause par des mutations dominantes délétères localisées entre le 7e et le 10e exons du gène COPA (hot-spot), codant pour la sous-unité alpha du complexe COP1, impliquée dans le transport protéique entre l'appareil de Golgi et le réticulum endoplasmique. Le syndrome COPA est associé à une auto-immunité et une hyperactivation des voies interféron de type 1 et lymphocytaires T helper 17. Les manifestations cliniques débutent habituellement dans l'enfance mais des débuts tardifs ont été décrits avec 30 % de porteurs asymptomatiques. Notre objectif était d'identifier de nouveaux variants non-synonymes (VNS) au sein de COPA et de décrire les phénotypes associés. Nous avons inclus l'ensemble des individus provenant d'une large biobanque institutionnelle ayant des données de séquençage d'exome disponibles. Les VNS du 7e au 10e exons du gène COPA ont été identifiés et annotés à l'aide de leur fréquence allélique au sein d'une base de données en ligne (gnomAD) et des scores fonctionnels prédictifs habituels (SIFT, POLYPHEN-2, CADD score). Les dossiers médicaux des porteurs de VNS ont été relus afin de recueillir les antécédents personnels et familiaux, ainsi que les résultats des dosages d'auto-anticorps et d'imageries thoraciques. Parmi les 53 364 adultes avec données de séquençage d'exome disponibles, 24 VNS uniques ont été identifiés au sein du hot-spot de COPA chez 48 individus (prévalence 0,09 %), 33 femmes (69 %), âge médian lors du recueil de donnée 51,7 ans (IQR 39,6–64,5). Un seul des VNS identifies (p.R281Q) avait déjà été rapporté comme une mutation responsable d'un syndrome COPA. La patiente portant ce VNS a développé une polyarthrite rhumatoïde (PR) à l'âge de 18 ans et une hépatite auto-immune à l'âge de 35 ans. Parmi les autres VNS, 15 avaient une fréquence < 0,0001 et 8 n'avaient jamais été identifiés auparavant. Un impact délétère était prédit par SIFT et POLYPHEN-2 pour 12 VNS (50 %). Une maladie auto-immune ou auto-inflammatoire était rapportée chez 21 des 48 porteurs (44 %) avec un âge médian au diagnostic de 42,9 ans (IQR 28,2–56,0) et un début à l'âge adulte chez 19/21 porteurs (91 %). Une atteinte articulaire inflammatoire était décrite chez 6 patients dont 4 PR et une atteinte pulmonaire interstitielle chez 5 patients. Un psoriasis ou une maladie de Crohn étaient rapportés chez 5 patients. Des anticorps antinucléaires, des anti-CCP et un facteur rhumatoïde étaient positifs chez respectivement 9/15, 3/8 et 4/9 des patients. Une histoire familiale de maladie auto-inflammatoire/auto-immune était rapportée chez 9 patients. Deux individus étaient décédés de cardiopathies aiguës sur chroniques à l'âge de 64 et 79 ans. Dans cette première étude des VNS de COPA au sein d'une importante biobanque, nous avons identifié 23 nouveaux VNS non précédemment associés au syndrome COPA. Près de la moitié des porteurs présentaient des maladies auto-inflammatoires ou auto-immunes variées dont la plupart avaient débutées à l'âge adulte. Si l'impact fonctionnel de ces VNS est confirmé, les VNS rares et exoniques de COPA pourraient contribuer à l'architecture génétique de plusieurs maladies communes auto-immunes ou inflammatoires. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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