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A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family

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International Journal of Ophthalmology(English edition) 2019年第5期12卷 725-730页

作者： ping-Bo Ouyang Yuan Zhao Ying-Qian Peng lu-Si Zhang Jian cao Yun Li Department of Ophthalmology the Second Xiangya Hospital of Central South University Hunan Clinical Research Center of Ophthalmic Disease Department of Cardiovascular Surgery the Second Xiangya Hospital of Central South University

AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome(MFS) phenotype and an unusual bilateral macular degeneration. METHODS: Ophthalmic, cardiovascular and systemic examinations were performed, and genomic DNA extracted from all living family members. The 24-32 exon mutations of FBN1 gene were screened by Sanger Sequencing in all family members and 100 unrelated healthy Chinese individuals. RESULTS: In the four-generation family, classic MFS phenotypes were observed in all 5 patients, 2 of them had peculiar phenotype of bilateral macular degeneration. Mutation screening in FBN1 identified a heterozygous missense mutation(c.3932 A>G, p.Y1311 C) with co-segregation. This mutation was found with the MFS phenotypes in all 5 patients but not in unaffected members or unrelated controls. CONCluSION: A Chinese consanguineous MFS family with uncommon bilateral macular degeneration and an unreported c.3932 A>G mutation in FBN1 was identified. Our finding expands the FBN1 mutation spectrum and its possible role in the pathogenesis of Marfan syndrome.

关键词： Marfan syndrome fibrillin-1 autosomal dominant heterozygous mutation

How should congenital absence of cruciate ligaments be treated? A case report and literature review

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World Journal of Clinical Cases 2019年第19期7卷 3082-3089页

作者： Ran lu Dong-ping Zhu Neng Chen He Sun Ze-Hui Li Xue-Wei cao Department of Orthopedics Guangdong Provincial Hospital of Traditional Chinese Medicine

BACKGROUND Hypoplasia of bilateral cruciate ligaments is a rare congenital *** diagnosis of such diseases and indications for the various treatment options require further analysis and *** SUMMARY The patient is a 26-year-old Chinese woman who has been suffering from knee pain since the age of 8 years,2-3 episodes a *** years ago,due to the practice of advanced yoga poses,the frequency of left knee pain increased,requiring prompt medical *** resonance imaging demonstrated an absence of both anterior and posterior cruciate ligaments of both knees with abnormal posterior tilting of the tibial *** subluxation of the knee joint was also found,therefore tibial osteotomy was *** patient reported at the 24 mo follow-up that the frequency of pain and instability had been reduced and function *** Osteotomy may be an effective method to treat patients with congenital cruciate ligament deficiency with posterior tibial plateau *** diagnosis of congenital cruciate ligament deficiency shall be based on the combination of patient’s medical history,clinical manifestations,and findings from imaging to avoid possible *** on the symptoms,frequency of attacks,and intent of the individual,appropriate treatment options shall be identified.

关键词： Congenital Dysplasia Cruciate ligament Congenital deformity Osteotomy Case report

Semi-solid Thixoforming Simulation of Al-Cu-Mn-Ti Alloy Parts via AnyCasting

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Journal of Materials Science & Technology 2007年第3期23卷 359-362页

作者： ping WANG Jianzhong CUI Guimin lu Key Laboratory of Ministry of Education for Electromagnetic Processing of Materials Northeastern University Shenyang 110004 China

The software AnyCasting was used to simulate the thixotropic die-casting process of semi-solid Al-Cu-Mn-Ti alloy slurry to form the parts of a particular shape, especially on how the in-gate size of die and injection speed affect the process. The results showed that the die cavity can be filled well with the semi-solid slurry in form of laminar flow under conditions that the temperature of the semi-solid slurry is 640℃ and that of die 200-240℃, thickness of in-gate is 11 mm and, more important, the injection speed should be changed from 0.1 to 1.0 m/s when 60% of die cavity has been filled. The simulation result is highly proved in conformity to the actual die-casting specimens in accordance to the filling process as simulated. Moreover, the hardness of the specimens is up to 116.6 HV after the treatment of solid solution plus underaging, i.e. 45.7% higher than that in conventional ones.

关键词： Al-Cu-Mn-Ti alloy Seml-solid die casting Laminar flow Hardness

Quantum Chromodynamics Sum Rules for the 1^(-/+) Vector Odd-Glueball

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Chinese Physics Letters 1996年第5期13卷 340-342页

作者： lu Wen-tao LIU Jue-ping Department of Physics Wuhan UniversityWuhan 430072

The transverse part of the two-point function of the 1^(-/+) vector gluonic current is calculated by including the perturbative contributions and the non-perturbative ones resulted from condensates of dimensions up to *** a usual"resonance plus continuum " model of the spectral function,the quantum chromodynamics sum rules for the 1^(-/+) vector odd-glueball are derived,and the 1^(-/+) mass of that glueball is determined to be 1.87 GeV.

关键词： dimensions function transverse

Periodic Solutions for a Class of n-dimensional Prescribed Mean Curvature Equations

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Acta Mathematicae Applicatae Sinica 2020年第2期36卷 516-526页

作者： Zai-tao LIANG Shi-ping lu School of Mathematics and Big Data Anhui University of Science and TechnologyHuainan 232001China College of Mathematics and Statistics Nanjing University of Information Science&TechnologyNanjing 210044China

In this paper,by using an extension of Mawhin’s continuation theorem and some analysis methods,we study the existence of periodic solutions for the following prescribed mean curvature system d/dtφ(x')+▽W(x)=p(t), w... 详细信息

关键词： periodic solutions Mawhin’s continuation theorem prescribed mean curvature equations

A fast auto-focusing method of microscopic imaging based on an improved MCS algorithm

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Journal of Innovative Optical Health Sciences 2015年第5期8卷 67-76页

作者： Guangkai Fu Yiping cao Mingteng lu Department of Optical Electronics Sichuan University Chengdu 610064P.R.China

An improved"three steps"mountain-climb searching(MCS)algorithm is proposed which is applied to auto-focusing for microscopic imaging accurately and *** analyzing the performance of several evaluation functions,the variance function and the Brenner function are synthesized as a new evaluation *** the first step,a self-adaptive step length which is much dependent on the reciprocal of the evaluation function value at the beginning position of climbing is used for approaching the halfway up the mountain ***,a fixed moderate step length is applied for approaching the mountaintop of the variance function as closer as ***,afine step is employed for reaching the exact mountaintop of the Brenner *** microscope auto-focusing experiments based on the proposed algorithm for blood smear detection have been carried out *** results show that the improved algorithm can not only guarantee the precision to get clear focal images,but also improve the auto-focusing e±ciency.

关键词： Auto-focusing evaluation function mountain-climb searching algorithm image processing

STUDY ON HYDRAULICALLY OPTIMUM DESIGN OF PUMP SUMPS

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Journal of Hydrodynamics 1996年第2期8卷 42-51页

作者： lu, Linguang cao, Zhigao Zhou, Jiren Yangzhou Univ Yangzhou China

In past years a great deal of research work for the hydraulic design of pump sumps has been executed by means of experiments. Due to the differences of their experimental conditions, there were some obvious differences between the design rules suggested from different researchers. In this paper a method based on the 3-D numerical simulation of turbulence flow has been applied to hydraulically optimize the geometrical parameters of pump sumps, which makes it possible to establish the hydraulic criteria of design for pump sumps theoretically.

关键词： Computer simulation Fluid structure interaction Machine design Numerical analysis Optimization

A junction-by-junction feedback-based strategy with convergence analysis for dynamic traffic assignment

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Science China(Information Sciences) 2016年第1期59卷 30-46页

作者： Tengfei LIU Xuesong lu Zhong-ping JIANG State Key Laboratory of Synthetical Automation for Process Industries Northeastern University Department of Electrical and Computer Engineering University of Connecticut Department of Electrical and Computer Engineering Polytechnic School of Engineering New York University

By considering the traffic assignment problem as a control problem, this paper develops a new realtime route guidance strategy for accurate convergence of the traffic flows to user equilibrium(UE) or system optimum(SO), in the presence of drivers’ response uncertainties. With the new guidance strategy, the drivers make routing decisions based on the route guidance information from junction to junction. Specifically, instead of total travel cost of every route from origin to destination, the travel cost of every alternative link plus the average cost to destination from the next junction corresponding to the alternative link is sent to the drivers at each specific junction. The drivers’ response to the route guidance information is directly modeled by the splitting rates at the junctions, which are simply negatively correlated with the comparison of related cost information and are able to take into account the drivers’ response uncertainties. With the proposed route guidance strategy, in the case of fixed travel demands, the accurate convergence of the traffic flows to a UE is guaranteed in the presence of drivers’ response uncertainties by using La Salle’s invariance principle. When marginal travel cost information, instead of travel cost information, is sent to the drivers, a system optimum can be achieved under a mild condition on the marginal cost function.

关键词： dynamic traffic assignment user equilibrium(UE) system optimum(SO) convergence La Salle’s invariance principle

Seasonal variations of particulate silicon in the Changjiang (Yangtze River) Estuary and its adjacent area

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Acta Oceanologica Sinica 2013年第4期32卷 1-10页

作者： cao lu LIU Sumei REN Jingling Key Laboratory of Marine Chemistry Theory and Technology Ministry of Education Ocean University of China

Temporal and spatial distribution of biogenic （BSi） and lithogenic （LSi） silica were studied in the Changjiang （Yangtze River） Estuary and its adjacent area. The annual average BSi and LSi concentrations were （1.714-1.79） #mol/L and （0.564-1.41） mmol/L, respectively. Both BSi and LSi were high ii~. tbe inshore ar- eas, where they received terrigenous discharge from the Changjiang, and decreased towards the offshore region. BSi and LSi were most abundant at the near bottom layer due to the high sedimentation rates and resuspension of sediment. Diatom blooms occurred in summer with high Chl a concentration in the sur- face layer, which induced that BSi in the surface layer during summer was obviously higher than that in the surface layer of other seasons. LSi concentration was maximal in autumn and spring and minimum in summer, associated with the seasonal variation of SPM values. Drifting investigation and mesocosm exper- iments were conducted during dinoflagellate bloom, aiming to understand the effect of nutrients on BSi by changing the phytoplankton composition. The results show that the low dissolved inorganic phosphorus concentration and high molar ratio of N/P （dissolved inorganic nitrogen vs. dissolved inorganic phospho- rus）, were the important factors for decreasing diatom biomass in the study area, and it would subsequently decrease the BSi concentration in aquatic ecosystem.

关键词： biogenic silica lithogenic silica dissolved silicate suspended particulate matter Changjiang(Yangtze River) Estuary East China Sea