Search results for: Direct problem

Authors: Sumita Chowhan

Abstract:

Abilities are important for academic success. Yet, abilities cannot be the whole story. Styles might be one source of unexplained variation. A style is a preferred way of using ones abilities. Students are thought to be incompetent not because they are lacking in abilities, but because their styles do not match the academic course chosen. The purpose of the study was to determine the role of abilities and learning styles in prediction of academic performance and their adjustment. Participants were 272 engineering students. The tools used are Myers Briggs Type Indicator, Culture Fair Intelligence Test and Student Problem Checklist. The statistical procedures employed were t-test, correlations and stepwise regressions. The analyses of the data indicated that although abilities are better predictors of academic performance, learning styles also shown a significant relationship. The study also indicates that if students learning styles matches to their chosen academic course, they tend to show better performance and less adjustment problems.

Keywords: Abilities, Academic Performance, Adjustment, Learning Styles.

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Authors: M. Nemer, E. I. Konukseven

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In this paper, a motion generation algorithm for a six Degrees of Freedom (DoF) robotic hand in a static environment is presented. The purpose of developing this method is to be used in the path generation of the end-effector for edge finishing and inspection processes by utilizing the CAD model of the considered workpiece. Nonetheless, the proposed algorithm may be extended to be applicable for other similar manufacturing processes. A software package programmed in the application programming interface (API) of SolidWorks generates tool path data for the robot. The proposed method significantly simplifies the given problem, resulting in a reduction in the CPU time needed to generate the path, and offers an efficient overall solution. The ABB IRB2000 robot is chosen for executing the generated tool path.

Keywords: Offline programming, CAD-based tools, edge deburring, edge scanning, path generation.

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Authors: C. W. Nguong, S. N. B. Lee, D. Sujan

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Renewable natural fibres such as oil palm, flax, and pineapple leaf can be utilized to obtain new high performance polymer materials. The reuse of waste natural fibres as reinforcement for polymer is a sustainable option to the environment. However, due to its high hydroxyl content of cellulose, natural fibres are susceptible to absorb water that affects the composite mechanical properties adversely. Research found that Nano materials such as Nano Silica Carbide (n-SiC) and Nano Clay can be added into the polymer composite to overcome this problem by enhancing its mechanical properties in wet condition. The addition of Nano material improves the tensile and wear properties, flexural stressstrain behaviour, fracture toughness, and fracture strength of polymer natural composites in wet and dry conditions.

Keywords: Natural fibres, Nano Silica Carbide, Nano Clay, Wet Condition, Polymer Composites.

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Authors: Guy Leshem, Ya'acov Ritov

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Traffic Management and Information Systems, which rely on a system of sensors, aim to describe in real-time traffic in urban areas using a set of parameters and estimating them. Though the state of the art focuses on data analysis, little is done in the sense of prediction. In this paper, we describe a machine learning system for traffic flow management and control for a prediction of traffic flow problem. This new algorithm is obtained by combining Random Forests algorithm into Adaboost algorithm as a weak learner. We show that our algorithm performs relatively well on real data, and enables, according to the Traffic Flow Evaluation model, to estimate and predict whether there is congestion or not at a given time on road intersections.

Keywords: Machine Learning, Boosting, Classification, TrafficCongestion, Data Collecting, Magnetic Loop Detectors, SignalizedIntersections, Traffic Signal Timing Optimization.

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Authors: Tamanna Siddiqui, M. Afshar Alam

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Censored Production Rule is an extension of standard production rule, which is concerned with problems of reasoning with incomplete information, subject to resource constraints and problem of reasoning efficiently with exceptions. A CPR has a form: IF A (Condition) THEN B (Action) UNLESS C (Censor), Where C is the exception condition. Fuzzy CPR are obtained by augmenting ordinary fuzzy production rule “If X is A then Y is B with an exception condition and are written in the form “If X is A then Y is B Unless Z is C. Such rules are employed in situation in which the fuzzy conditional statement “If X is A then Y is B" holds frequently and the exception condition “Z is C" holds rarely. Thus “If X is A then Y is B" part of the fuzzy CPR express important information while the unless part acts only as a switch that changes the polarity of “Y is B" to “Y is not B" when the assertion “Z is C" holds. The proposed approach is an attempt to discover fuzzy censored production rules from set of discovered fuzzy if then rules in the form: A(X) ÔçÆ B(Y) || C(Z).

Keywords: Uncertainty Quantification, Fuzzy if then rules, Fuzzy Censored Production Rules, Learning algorithm.

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Authors: R. May, K. Jinno, I. Yusoff

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The paper aims at evaluating the effects of heavy groundwater withdrawal and artificial groundwater recharge of an ex-mining pond to the aquifer system of the Langat Basin through the three-dimensional (3D) numerical modeling. Many mining sites have been left behind from the massive mining exploitations in Malaysia during the England colonization era and from the last few decades. These sites are able to accommodate more than a million cubic meters of water from precipitation, runoff, groundwater, and river. Most of the time, the mining sites are turned into ponds for recreational activities. In the current study, an artificial groundwater recharge from an ex-mining pond in the Langat Basin was proposed due to its capacity to store >50 million m3 of water. The location of the pond is near the Langat River and opposite a steel company where >4 million gallons of groundwater is withdrawn on a daily basis. The 3D numerical simulation was developed using the Groundwater Modeling System (GMS). The calibrated model (error about 0.7 m) was utilized to simulate two scenarios (1) Case 1: artificial recharge pond with no pumping and (2) Case 2: artificial pond with pumping. The results showed that in Case 1, the pond played a very important role in supplying additional water to the aquifer and river. About 90,916 m3/d of water from the pond, 1,173 m3/d from the Langat River, and 67,424 m3/d from the direct recharge of precipitation infiltrated into the aquifer system. In Case 2, due to the abstraction of groundwater from a company, it caused a steep depression around the wells, river, and pond. The result of the water budget showed an increase rate of inflow in the pond and river with 92,493m3/d and 3,881m3/d respectively. The outcome of the current study provides useful information of the aquifer behavior of the Langat Basin.

Keywords: Groundwater and surface water interaction, groundwater modeling, GMS, artificial recharge pond, ex-mining site.

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Authors: Avinesh Prasad, Bibhya Sharma, Jito Vanualailai

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In this paper, we propose a solution to the motion control problem of a 2-link revolute manipulator arm. We require the end-effector of the arm to move safely to its designated target in a priori known workspace cluttered with fixed circular obstacles of arbitrary position and sizes. Firstly a unique velocity algorithm is used to move the end-effector to its target. Secondly, for obstacle avoidance a turning angle is designed, which when incorporated into the control laws ensures that the entire robot arm avoids any number of fixed obstacles along its path enroute the target. The control laws proposed in this paper also ensure that the equilibrium point of the system is asymptotically stable. Computer simulations of the proposed technique are presented.

Keywords: 2-link revolute manipulator, motion control, obstacle avoidance, asymptotic stability.

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Authors: Caio Fialho

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The automobile incentive policy in Brazil since the 1950s creates several problems in its cities, more visible in large centers such as São Paulo or Rio de Janeiro, but also strongly present in smaller cities, resulting in an increase in social and spatial inequality, together with a drop in the quality of life. The analyzed city, Campo Mourão, reflects these policies, a city that is initially planned to be compact and walkable, took other directions and currently suffers from urban mobility and social inequality in this urban environment, despite being a medium-sized city in Brazil. The research aims to understand and diagnose how these policies shaped the city and what are the results in Brazilian`s inland cities. Based on historical, bibliographical and field research in the city, the result is a diagnosis of the problem faced and how it can be reversed, in search of social equality and better quality of life.

Keywords: Urban mobility, quality of life, social equality, substantiable.

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Authors: Edina Koch, Péter Hudacsek

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In railways transition zone is present at the boundaries of zones with different stiffness. When a train rides from an embankment onto a stiff structure, such as a bridge, tunnel or culvert, an abrupt change in the support stiffness occurs possibly inducing differential settlements. This in long term can yield to the degradation of the tracks and foundations in the transition zones. A number of techniques have been proposed or implemented to provide gradual stiffness transition at the problem zones, such as methods to ensure gradually changing pad stiffness, application of long sleepers or installation of auxiliary rails in the transition zone. Aim of the research presented in this paper is to analyze the 3D and the dynamic effects induced by the passing train over an area where significant difference in the support stiffness exists. The effects were analyzed for different arrangements associated with certain differential settlement mitigation strategies of the transition zones.

Keywords: Culvert, dynamic load, HS small model, railway transition zone.

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Authors: Syed Muhammad Aqil Burney, Tahseen Ahmed Jilani, C. Ardil

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Minimization methods for training feed-forward networks with Backpropagation are compared. Feedforward network training is a special case of functional minimization, where no explicit model of the data is assumed. Therefore due to the high dimensionality of the data, linearization of the training problem through use of orthogonal basis functions is not desirable. The focus is functional minimization on any basis. A number of methods based on local gradient and Hessian matrices are discussed. Modifications of many methods of first and second order training methods are considered. Using share rates data, experimentally it is proved that Conjugate gradient and Quasi Newton?s methods outperformed the Gradient Descent methods. In case of the Levenberg-Marquardt algorithm is of special interest in financial forecasting.

Keywords: Backpropagation algorithm, conjugacy condition, line search, matrix perturbation

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Authors: J. Silvestre, L. Almeida, R. Marau, P. Pedreiras

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Currently, there are many local area industrial networks that can give guaranteed bandwidth to synchronous traffic, particularly providing CBR channels (Constant Bit Rate), which allow improved bandwidth management. Some of such networks operate over Ethernet, delivering channels with enough capacity, specially with compressors, to integrate multimedia traffic in industrial monitoring and image processing applications with many sources. In these industrial environments where a low latency is an essential requirement, JPEG is an adequate compressing technique but it generates VBR traffic (Variable Bit Rate). Transmitting VBR traffic in CBR channels is inefficient and current solutions to this problem significantly increase the latency or further degrade the quality. In this paper an R(q) model is used which allows on-line calculation of the JPEG quantification factor. We obtained increased quality, a lower requirement for the CBR channel with reduced number of discarded frames along with better use of the channel bandwidth.

Keywords: Industrial Networks, Multimedia.

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Authors: Seyed Ali Sadat Noori, Elham Sahebi Bazaz

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Topological changes in mobile ad hoc networks frequently render routing paths unusable. Such recurrent path failures have detrimental effects on quality of service. A suitable technique for eliminating this problem is to use multiple backup paths between the source and the destination in the network. This paper proposes an effective and efficient protocol for backup and disjoint path set in ad hoc wireless network. This protocol converges to a highly reliable path set very fast with no message exchange overhead. The paths selection according to this algorithm is beneficial for mobile ad hoc networks, since it produce a set of backup paths with more high reliability. Simulation experiments are conducted to evaluate the performance of our algorithm in terms of route numbers in the path set and its reliability. In order to acquire link reliability estimates, we use link expiration time (LET) between two nodes.

Keywords: Wireless Ad Hoc Networks, Reliability, Routing, Disjoint Path

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Authors: I. Abuiziah, N. Shakarneh

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Genetic Algorithm (GA) is a powerful technique for solving optimization problems. It follows the idea of survival of the fittest - Better and better solutions evolve from previous generations until a near optimal solution is obtained. GA uses the main three operations, the selection, crossover and mutation to produce new generations from the old ones. GA has been widely used to solve optimization problems in many applications such as traveling salesman problem, airport traffic control, information retrieval (IR), reactive power optimization, job shop scheduling, and hydraulics systems such as water pipeline systems. In water pipeline systems we need to achieve some goals optimally such as minimum cost of construction, minimum length of pipes and diameters, and the place of protection devices. GA shows high performance over the other optimization techniques, moreover, it is easy to implement and use. Also, it searches a limited number of solutions.

Keywords: Genetic Algorithm, optimization, pipeline systems, selection, cross over.

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Authors: Yang Li, Xiaorong Guan, Cheng Xu

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In order to design a suitable control scheme for human extremity exoskeleton, the interaction force control scheme with traditional PI controller was presented, and the simulation study of the electromechanical system of the human extremity exoskeleton was carried out by using a MATLAB/Simulink module. By analyzing the simulation calculation results, it was shown that the traditional PI controller is not very suitable for every movement speed of human body. So, at last the fuzzy self-adaptive PI controller was presented to solve this problem. Eventually, the superiority and feasibility of the fuzzy self-adaptive PI controller was proved by the simulation results and experimental results.

Keywords: Human extremity exoskeleton, interaction force control scheme, simulation study, fuzzy self-adaptive pi controller, man-machine coordinated walking, bear payload.

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Authors: P. Vosynek, T. Návrat, M. Peč, J. Pořízka, P. Diviš

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Bone properties and response behavior after static or dynamic activation (loading) are still interesting topics in many fields of the science especially in the biomechanical problems such as bone loss of astronauts in space, osteoporosis, bone remodeling after fracture or remodeling after surgery (endoprosthesis and implants) and in osteointegration. This contribution deals with the relation between physiological, demineralized and deproteinized state of the turkey long bone – tibia. Three methods for comparison were used: 1) densitometry, 2) three point bending and 3) frequency analysis. The main goal of this work was to describe the decrease of the protein (collagen) or mineral of the bone with relation to the fracture in three point bending. The comparison is linked to the problem of different bone mechanical behavior in physiological and osteoporotic state.

Keywords: Bone properties, long bone, osteoporosis, response behavior.

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Authors: Ye. V. Lyubun

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The problem of agricultural-soil pollution is closely linked to the production of ecologically pure foodstuffs and to human health. An important task, therefore, is to rehabilitate agricultural soils with the help of state-of-the-art biotechnologies, based on the use of metal-accumulating plants. In this work, on the basis of literature data and the results of prior research from this laboratory, plants were selected for which the growing technology is well developed and which are widespread locally: sugar sorghum (Sorghum saccharatum), sudangrass (Sorghum sudanense (Piper.) Stapf.), and sunflower (Helianthus annuus L.). I report on laboratory experiments designed to study the influence of synthetic indole-3- acetic acid and the extracellular indole-3-acetic acid released by the plant-growth-promoting rhizobacterium Azospirillum brasilense Sp245 on growth of and arsenic accumulation by these plants.

Keywords: Arsenic, bioaccumulation, plant-growth-promoting rhizobacteria, phytohormones.

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Authors: Ghulam Nabi Naz

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After independence, the popular belief that Gandhian will not indulge in corruption got a setback, post-independence setup paved the way for heavy corruption. The menace which would have dealt with strong legal provisions has become a way of life of Indian society. Corruption is recognized as the single biggest problem facing the country today. It undermines democracy and rule of law, violates human rights, distorts market and corrodes the moral fibre of people. The paper discusses the causes and possible remedial measures of corruption and response of people in Indian society. It emphasizes the factors which provide fertile ground for growth of corruption like, degradation of moral values, absence of a strong anti-corruption law and its effective enforcement, accountability, consistency and a defective system of fighting elections. The paper also highlights the reforms necessary for fighting corruption in India.

Keywords: Embezzlement, colonial, licence Raj, good governance, misappropriation, Sangh ideologue, Anna movement.

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Authors: Jan Kočí, Jiří Maděra, Miloš Jerman, Robert Černý

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The current practice of determination of moisture diffusivity of building materials under laboratory conditions is predominantly aimed at the absorption phase. The main reason is the simplicity of the inverse analysis of measured moisture profiles. However, the liquid moisture transport may exhibit significant hysteresis. Thus, the moisture diffusivity should be different in the absorption (wetting) and desorption (drying) phase. In order to bring computer simulations of hygrothermal performance of building materials closer to the reality, it is then necessary to find new methods for inverse analysis which could be used in the desorption phase as well. In this paper we present genetic algorithm as a possible method of solution of the inverse problem of moisture transport in desorption phase. Its application is demonstrated for AAC as a typical building material.

Keywords: autoclaved aerated concrete, desorption, genetic algorithm, inverse analysis

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Authors: Rutanachai Thaipratum

Abstract:

The mechanism of abiotic stress tolerance is crucial for plants to survive in harsh condition and the knowledge of this mechanism can be use to solve the problem of declining productivity of plants or crops around the world. However in-depth description is still unclear and it is argued, in particular that there is a relationship between high salinity tolerance and the ability to tolerate high light condition. In this study, Dunaliella salina, which can withstand high salt was used as a model. Chlorophyll fluorometer for nonphotochemical quenching (NPQ) measurement and high-performance liquid chromatography for pigment determination was used. The results show that NPQ value and the amount of pigment were increased along with the levels of salinity. However, it establish a clear relationship between high salt and high light but the further study to optimized the solutions mentioned above is still required.

Keywords: Abiotic stress tolerance, Dunaliella salina, Nonphotochemical quenching, Zeaxanthin.

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Authors: N. W. Paul, M. Banerjee

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Discussing the nexus between global health policy and local practices, this article addresses the recent Ebola outbreak as a role model for narrative co-constructions of epidemic risk. We will demonstrate in how far a theory-driven and methodologically rooted analysis of narrativity can help to improve mechanisms of prevention and intervention whenever epidemic risk needs to be addressed locally in order to contribute to global health. Analyzing the narrative transformation of Ebola, we will also address issues of transcultural problem-solving and of normative questions at stake. In this regard, we seek to contribute to a better understanding of a key question of global health and justice as well as to the underlying ethical questions. By highlighting and analyzing the functions of narratives, this paper provides a translational approach to refine our practices by which we address epidemic risk, be it on the national, the transnational or the global scale.

Keywords: Ebola, Epidemic Risk, Medical Ethics, Medical Humanities.

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Authors: Jongho Park, Taekyun Kim, Jungbhin You, Sungnam Hong, Sun-Kyu Park

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Due to the aging of bridges, increasing of maintenance costs and decreasing of structural safety is occurred. The steel corrosion of reinforced concrete bridge is the most common problem and this phenomenon is accelerating due to abnormal weather and increasing CO₂ concentration due to climate change. To solve these problems, composite members using textile have been studied. A textile reinforced concrete can reduce carbon emissions by reduced concrete and without steel bars, so a lot of structural behavior studies are needed. Therefore, in this study, textile reinforced concrete beam was made and flexural test was performed. Also, the change of flexural strength according to the prestressing was conducted. As a result, flexural strength of TRC with prestressing was increased compared and flexural behavior was shown as reinforced concrete.

Keywords: AR-glass, flexural strength, prestressing, textile reinforced concrete.

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Authors: S. A. Eftekhari

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In this paper, a numerical algorithm using a coupled Galerkin-Differential Quadrature (DQ) method is proposed for the solution of dam-reservoir interaction problem. The governing differential equation of motion of the dam structure is discretized by the Galerkin method and the DQM is used to discretize the fluid domain. The resulting systems of ordinary differential equations are then solved by the Newmark time integration scheme. The mixed scheme combines the simplicity of the Galerkin method and high accuracy and efficiency of the DQ method. Its accuracy and efficiency are demonstrated by comparing the calculated results with those of the existing literature. It is shown that highly accurate results can be obtained using a small number of Galerkin terms and DQM sampling points. The technique presented in this investigation is general and can be used to solve various fluid-structure interaction problems.

Keywords: Dam-reservoir system, Differential quadrature method, Fluid-structure interaction, Galerkin method, Integral quadrature method.

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Authors: Reza Sigari Tabrizi, Yeap Peik Foong, Nazli Ebrahimi

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The Knowledge Management (KM) Criteria is an essential foundation to evaluate KM outcomes. Different sets of criteria were developed and tailored by many researchers to determine the results of KM initiatives. However, literature review has emphasized on incomplete set of criteria for evaluating KM outcomes. Hence, this paper tried to address the problem of determining the criteria for measuring knowledge management outcomes among different types of Malaysian organizations. Successively, this paper was assumed to develop widely accepted criteria to measure success of knowledge management efforts for Malaysian organizations. Our analysis approach was based on the ANOVA procedure to compare a set of criteria among different types of organizations. This set of criteria was exploited from literature review. It is hoped that this study provides a better picture for different types of Malaysian organizations to establish a comprehensive set of criteria due to measure results of KM programs.

Keywords: KM Criteria, Knowledge Management, KMOutcomes, ANOVA

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Authors: Mert Turanli, Hakan Temeltas

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In this paper, we present an adaptive controller for decentralized coordination problem of multiple non-holonomic agents. The performance of the presented Multi-Agent Bounded Gain Forgetting (BGF) Composite Adaptive controller is compared against the tracking error criterion with a Feedback Linearization controller. By using the method, the sensor nodes move and reconfigure themselves in a coordinated way in response to a sensed environment. The multi-agent coordination is achieved through Centroidal Voronoi Tessellations and Coverage Control. Also, a consensus protocol is used for synchronization of the parameter vectors. The two controllers are given with their Lyapunov stability analysis and their stability is verified with simulation results. The simulations are carried out in MATLAB and ROS environments. Better performance is obtained with BGF Adaptive Controller.

Keywords: Adaptive control, Centroidal Voronoi Tessellations, composite adaptation, coordination.

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Authors: Laleh Taheri, Noraini C. Pa., Rusli Abdullah, Salfarina Abdullah

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Knowledge plays an important role to the success of any organization. Software development organizations are highly knowledge-intensive organizations especially in their requirement elicitation process (REP). There are several problems regarding communicating and using the knowledge in REP such as misunderstanding, being out of scope, conflicting information and changes of requirements. All of these problems occurred in transmitting the requirements knowledge during REP. Several researches have been done in REP in order to solve the problem towards requirements. Knowledge Audit (KA) approaches were proposed in order to solve managing knowledge in human resources, financial and manufacturing. There is lack of study applying the KA in requirements elicitation process. Therefore, this paper proposes a KA model for REP in supporting to acquire good requirements.

Keywords: Knowledge Audit, Requirement Elicitation Process, KA Model, Knowledge in Requirement Elicitation.

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Authors: Ugwu Elias Ikechukwu

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Discussions on bilingualism have always dwelt on how the mother tongue interferes with the target language. This interference is considered a serious problem in second language learning. Usually, the interference has been phonological. But the objective of this research is to explore how the target language interferes with the mother tongue. In the case of the Igbo language, it interferes with English mostly at the phonological level while English interferes with Igbo at the realm of vocabulary. The result is a new language \"Engligbo\" which is a hybrid of English and Igbo. The Igbo language spoken by about 25 million people is one of the three most prominent languages in Nigeria. This paper discusses the phenomenal Engligbo, and other implications for Igbo learners of English. The method of analysis is descriptive. A number of recommendations were made that would help teachers handle problems arising from such mutual interferences.

Keywords: Bilingualism, Implications, Language Pedagogy, Reciprocal Interferences.

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Authors: Chatwarin Poochai, Puttichai Pae-on, Thirawudh Pongpayoon

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The commercial white tyres are usually used for forklifts in food and medicine industries. Conventionally, silica is used as reinforcement in the tyres. However, the adhesion between silica particles and rubber is remarkably poor. To improve the problem of adhesion and hence enhance wear resistance, modification of silica surface is one of the solutions. In this work, the natural rubber compound blending with polyisoprene-coated silica prepared by admicellar polymerization technique was studied to compare with the natural rubber compound of unmodified silica. The surface characterization of modified silica was also examined by SEM, FTIR, and TGA. The results show that polyisoprene-coated silica/natural rubber compound gave better overall mechanical properties, especially wear resistance with the improvement of the adhesion between silica and natural rubber matrix that can be seen in the SEM micrograph.

Keywords: White tyre, admicellar polymerization, modified silica, wear resistance.

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Authors: Veronika Pivkina, Alla Kim, Khon Nataliya

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In this paper, the actuality of the study, and the role of subjective well-being problem in modern psychology and the comprehending of subjective well-being by current students is defined. The purpose of this research is to educe peculiarities of comprehending of subjective well-being by students with various levels of emotional intelligence. Methods of research are adapted Russian-Language questionnaire of K. Riff 'The scales of psychological well-being'; emotional intelligence questionnaire of D. V. Lusin. The research involved 72 students from different universities and disciplines aged between 18 and 24. Analyzing the results of the studies, it can be concluded that the understanding of happiness in different groups of students with high and low levels of overall emotional intelligence is different, as well as differentiated by gender. Students with a higher level of happiness possess more capacity and higher need to control their emotions, to cause and maintain the desired emotions and control something undesirable.

Keywords: Subjective well-being, emotional intelligence, psychology of comprehending, students.

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Authors: Latha Parameswaran, K. Anbumani

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Multimedia security is an incredibly significant area of concern. A number of papers on robust digital watermarking have been presented, but there are no standards that have been defined so far. Thus multimedia security is still a posing problem. The aim of this paper is to design a robust image-watermarking scheme, which can withstand a different set of attacks. The proposed scheme provides a robust solution integrating image moment normalization, content dependent watermark and discrete wavelet transformation. Moment normalization is useful to recover the watermark even in case of geometrical attacks. Content dependent watermarks are a powerful means of authentication as the data is watermarked with its own features. Discrete wavelet transforms have been used as they describe image features in a better manner. The proposed scheme finds its place in validating identification cards and financial instruments.

Keywords: Watermarking, moments, wavelets, content-based, benchmarking.

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Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le, Chi V. Phan

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Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (ATP7B). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The ATP7B gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a presymptomatic diagnosis for their familial members. Forty-three WD patients and their 65 siblings were identified as having ATP7B gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the ATP7B gene were analyzed by direct sequencing. We recognized four mutations ([R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G) in the sum of 20 detectable mutations, accounting for 87.2% of the total. Mutation S105* was determined to have a high rate (32.6%) in this study. The hotspot regions of ATP7B were found at exons 2, 16, and 8, and intron 14, in 39.6 %, 11.6 %, 9.3%, and 7 % of patients, respectively. Among nine homozygote/compound heterozygote siblings of the patients with WD, three individuals were determined as asymptomatic by screening mutations of the probands. They would begin treatment after diagnosis. In conclusion, 20 different mutations were detected in 43 WD patients. Of this number, four novel mutations were explored, including [R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G. The mutation S105* is the most prevalent and has been considered as a biomarker that can be used in a rapid detection assay for diagnosis of WD patients. Exons 2, 8, and 16, and intron 14 should be screened initially for WD patients in Vietnam. Based on risk profile for WD, genetic testing for presymptomatic patients is also useful in diagnosis and treatment.

Keywords: ATP7B gene, mutation detection, presymptomatic diagnosis, Vietnamese Wilson’s disease.

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