Search results for: adaptive%20fuzzy%20PI%20controller

Authors: Javiera Espinosa, Patricia López, Noelia Santos, Nadia Loro, Esther Moraleda

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In recent years, there has been a notable increase in the number of investigations that establish that Down Syndrome and Autism Spectrum Disorder are diagnoses that can coexist together. However, there are also many studies that consider that both diagnoses present neuropsychological, linguistic and adaptive characteristics with a totally different profile. The objective of this research is to question whether there really can be a profile that encompasses both disorders or if they can be incompatible with each other. To this end, a review of the scientific literature of recent years has been carried out. The results indicate that the two lines collect opposite approaches. On the one hand, there is research that supports the increase in comorbidity between Down Syndrome and Autism Spectrum Disorder, and on the other hand, many investigations show a totally different general development profile between the two. The discussion focuses on discussing both lines of work and on proposing future lines of research in this regard.

Keywords: disability, language, speech, down syndrome

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Authors: Naime Boudemagh

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In this work, we aim to improve the detection performances of radar systems. To this end, we propose and analyze a novel censoring technique of undesirable samples, of priori unknown positions, that may be present in the environment under investigation. Therefore, we consider heterogeneous backgrounds characterized by the presence of some irregularities such that clutter edge transitions and/or interfering targets. The proposed detector, termed automatic censoring constant false alarm (AC-CFAR), operates exclusively in a Gaussian background. It is built to allow the segmentation of the environment to regions and switch automatically to the appropriate detector; namely, the cell averaging CFAR (CA-CFAR), the censored mean level CFAR (CMLD-CFAR) or the order statistic CFAR (OS-CFAR). Monte Carlo simulations show that the AC-CFAR detector performs like the CA-CFAR in a homogeneous background. Moreover, the proposed processor exhibits considerable robustness in a heterogeneous background.

Keywords: CFAR, automatic censoring, heterogeneous environments, radar systems

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Authors: Shunichi Ohmori, Sirawadee Arunyanart, Kazuho Yoshimoto

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We consider a periodic review inventory control problem of minimizing production cost, inventory cost, and lost-sales under demand uncertainty, in which product demands are not specified exactly and it is only known to belong to a given uncertainty set, yet the constraints must hold for possible values of the data from the uncertainty set. We propose a robust optimization formulation for obtaining lowest cost possible and guaranteeing the feasibility with respect to range of order quantity and inventory level under demand uncertainty. Our formulation is based on the adaptive robust counterpart, which suppose order quantity is affine function of past demands. We derive certainty equivalent problem via second-order cone programming, which gives 'not too pessimistic' worst-case.

Keywords: robust optimization, inventory control, supply chain managment, second-order programming

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Authors: Hamed Saremi

Abstract:

One of the challenges in manufacturing and service companies to provide a product or service is recognized Brand to consumers in target markets. They provide most of their processes under the same capacity. But the constant threat of devastating internal and external resources to prevent a rise Brands and more companies are recognizing the stages are bankrupt. This paper has tried to identify and analyze effective indicators of brand equity and focuses on indicators and presents a model of intelligent create a model to prevent possible damage. In this study identified indicators of brand equity based on literature study and according to expert opinions, set of indicators By techniques DEMATEL Then to used Multi-Step Adaptive Neural-Fuzzy Inference system (ANFIS) to design a multi-stage intelligent system for assessment of brand equity.

Keywords: anfis, dematel, brand, cosmetic product, brand value

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Authors: Hyun-Jun Shin, Jae-Jeong Kim, Hyoung-Kyu Song

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In broadcasting and cellular system, a cooperative scheme is proposed for the improvement of performance of bit error rate. Up to date, the coverage of broadcasting system coexists with the coverage of cellular system. Therefore each user in a cellular coverage is frequently involved in a broadcasting coverage. The proposed cooperative scheme is derived from the shared areas. The users receive signals from both broadcasting base station and cellular base station. The proposed scheme selects a cellular base station of a worse channel to achieve better performance of bit error rate in cooperation. The performance of the proposed scheme is evaluated in fading channel.

Keywords: cooperative communication, diversity, STBC, CDD, channel condition, broadcasting system, cellular system

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Authors: Minzheong Song

Abstract:

The purpose of this paper is to see a case of smart energy evolution of the UK along with government projects and smart city project like 'Smart London Plan (SLP)' in 2013 with the logic of business model innovation (BMI). For this, it discusses the theoretical logic and formulates a research framework of evolving smart energy from silo to integrated system. The starting point is the silo system with no connection and in second stage, the private investment in smart meters, smart grids implementation, energy and water nexus, adaptive smart grid systems, and building marketplaces with platform leadership. As results, the UK’s smart energy sector has evolved from smart meter device installation through smart grid to new business models such as water-energy nexus and microgrid service within the smart energy city system.

Keywords: smart city, smart energy, business model, business model innovation (BMI)

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Authors: Jawdat Goussous, Samer Abu Ghazaleh

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Heritage is closely linked with the national identity and because Jordan is a rich country of heritage where many civilizations had lived from early beginning of history ,therefore the conservation of this heritage is national task that gives many benefits as correlation between local inhabitance and enhance the linked with spirit of place . This study takes into account the most important concentration on some of old hospitals in Jordan ,which were constructed between 1890-1950 ,looking in their historical and architectural heritage values gained by their architectural distinguished ,longevity and their linked with events that happened in the region. then Focus on the study and analysis of some of them in terms of conservation methodology that have been followed to conserve the early hospitals such as preservation ,maintenance ,adaptive reuse , And their positive effects on these buildings, emphasize the importance of these buildings because of their historical and architectural values.

Keywords: evangelical missionary, early hospitals, medical services, renovation

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Authors: A. Venkatakrishnan, M. Juneja, S. Kapoor

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Background: Gastrointestinal dysfunction is an emerging co morbidity seen in autism and may further strengthen the association between autism and celiac disease. This is supported by increased rates (22-70%) of gastrointestinal symptoms like diarrhea, constipation, abdominal discomfort/pain, and gastrointestinal inflammation in children with the etiology of autism is still elusive. In addition to genetic factors, environmental factors such as toxin exposure, intrauterine exposure to certain teratogenic drugs, are being proposed as possible contributing factors in the etiology of Autism Spectrum Disorders (ASD) in cognizance with reports of increased gut permeability and high rates of gastrointestinal symptoms noted in children with ASD, celiac disease has also been proposed as a possible etiological factor. Despite insufficient evidence regarding the benefit of restricted diets in Autism, GFD has been promoted as an alternative treatment for ASD. This study attempts to discern any correlation between ASD and celiac disease. Objective: This cross sectional study aims to determine the proportion of celiac disease in children with ASD. Methods: Study included 155 participants aged 2-12 yrs, diagnosed as ASD as per DSM-5 attending the child development center at a tertiary care hospital in Northern India. Those on gluten free diet or having other autoimmune conditions were excluded. A detailed Performa was filled which included sociodemographic details, history of gastrointestinal symptoms, anthropometry, systemic examination, and pertinent psychological testing was done using was assessed using Developmental Profile-3(DP-3) for Developmental Quotient, Childhood Autism Rating Scale-2 (CARS-2) for severity of ASD, Vineland Adaptive Behavior Scales (VABS) for adaptive behavior, Child Behavior Checklist (CBCL) for behavioral problems and BAMBI (Brief Autism Mealtime Behavior Scales) for feeding problems. Screening for celiac was done by TTG-IgA levels, and total serum IgA levels were measured to exclude IgA deficiency. Those with positive screen were further planned for HLA typing and endoscopic biopsy. Results: A total of 155 cases were included, out of which 5 had low IgA levels and were hence excluded from the study. The rest 150 children had TTG levels below the ULN and normal total serum IgA level. History of Gastrointestinal symptoms was present in 51 (34%) cases abdominal pain was the most frequent complaint (16.6%), followed by constipation (12.6%). Diarrhea was seen in 8 %. Gastrointestinal symptoms were significantly more common in children with ASD above 5 yrs (p-value 0.006) and those who were verbal (p = 0.000). There was no significant association between socio-demographic factors, anthropometric data, or severity of autism with gastrointestinal symptoms. Conclusion: None of the150 patients with ASD had raised TTG levels; hence no association was found between ASD and celiac disease. There is no justification for routine screening for celiac disease in children with ASD. Further studies are warranted to evaluate association of Non Celiac Gluten Sensitivity with ASD and any role of gluten-free diet in such patients.

Keywords: autism, celiac, gastrointestinal, gluten

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Authors: Valentina Colonnello, Paolo Maria Russo

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Studies indicate a link between individual differences in affective disposition and depression, as well as between emotion dysregulation and depression. However, the specific role of emotion dysregulation domains in mediating the relationship between affective disposition and depression remains largely unexplored. In three cross-sectional quantitative studies (total n = 1350), we explored the extent to which specific emotion regulation difficulties mediate the relationship between personal distress disposition (Study 1), separation distress as a primary emotional trait (Study 2), and an insecure, anxious attachment style (Study 3) and depression. Across all studies, we found that the relationship between affective disposition and depression was mediated by difficulties in accessing adaptive emotion regulation strategies. These findings underscore the potential for modifiable abilities that could be targeted through preventive interventions.

Keywords: emotions, mental health, individual traits, personality

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Authors: Magdy B. Eteiba, Wael Ismael Wahba, Shimaa Barakat

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This paper presents a fault identification, classification and fault location estimation method based on Discrete Wavelet Transform and Adaptive Network Fuzzy Inference System (ANFIS) for medium voltage cable in the distribution system. Different faults and locations are simulated by ATP/EMTP, and then certain selected features of the wavelet transformed signals are used as an input for a training process on the ANFIS. Then an accurate fault classifier and locator algorithm was designed, trained and tested using current samples only. The results obtained from ANFIS output were compared with the real output. From the results, it was found that the percentage error between ANFIS output and real output is less than three percent. Hence, it can be concluded that the proposed technique is able to offer high accuracy in both of the fault classification and fault location.

Keywords: ANFIS, fault location, underground cable, wavelet transform

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Authors: Unal Atakan Kahraman, Yilmaz Uyaroğlu

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The chaotic signals generated by chaotic systems have some properties such as randomness, complexity and sensitive dependence on initial conditions, which make them particularly suitable for secure communications. Since the 1990s, the problem of secure communication, based on chaos synchronization, has been thoroughly investigated and many methods, for instance, robust and adaptive control approaches, have been proposed to realize the chaos synchronization. In this paper, an improved secure communication model is proposed based on control of supply chain management system. Control and masking communication simulation results are used to visualize the effectiveness of chaotic supply chain system also performed on the application of secure communication to the chaotic system. So, we discover the secure phenomenon of chaos-amplification in supply chain system

Keywords: chaotic analyze, control, secure communication, supply chain attractor

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Authors: Ani Bajrami

Abstract:

The birth of traditional medicine is related to plant diversity in a region, and the knowledge regarding them has been used and culturally transmitted over generations by members of a certain society. In this context, Traditional Ecological Knowledge (TEK) concerning the use of plants for medicinal purposes had survival value and was adaptive for people living in different habitats around the world. Albanian flora has a high considerably number of medicinal plants, and they have been extensively used albeit expressed in folk medicinal knowledge and practices. Over the past decades, a number of ethnobotanical studies and extensive fieldwork has been conducted in Albania both by local and foreign scientists. In addition, ethnobotany is experiencing a theoretical and conceptual diversification. This article is a historical review of ethnobotanical studies conducted in Albania after the Second World War and provides theoretical considerations on how these studies should be conducted in the future.

Keywords: medicinal plants, traditional ecological knowledge, historical ethnobotany, theory, albania

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Authors: Semih Demir, Anil Celebi

Abstract:

Circuit switched networks widely used until the end of the 20^th century have been transformed into packages switched networks. Time Division Multiplexing over Internet Protocol (TDMoIP) is a system that enables Time Division Multiplexing (TDM) traffic to be carried over packet switched networks (PSN). In TDMoIP systems, devices that send TDM data to the PSN and receive it from the network must operate with the same clock frequency. In this study, it was aimed to implement clock synchronization process in Field Programmable Gate Array (FPGA) chips using time information attached to the packages received from PSN. The designed hardware is verified using the datasets obtained for the different carrier types and comparing the results with the software model. Field tests are also performed by using the real time TDMoIP system.

Keywords: clock recovery on TDMoIP, FPGA, MATLAB reference model, clock synchronization

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Authors: S. Yaman, S. Rostami

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In this study, a black box modeling of the coupled-tank system is obtained by using fuzzy sets. The derived model is tested via adaptive neuro fuzzy inference system (ANFIS). In order to achieve a better control performance, the parameters of three different controller types, classical proportional integral controller (PID), fuzzy PID and function tuner method, are tuned by one of the evolutionary computation method, genetic algorithm. All tuned controllers are applied to the fuzzy model of the coupled-tank experimental setup and analyzed under the different reference input values. According to the results, it is seen that function tuner method demonstrates better robust control performance and guarantees the closed loop stability.

Keywords: function tuner method (FTM), fuzzy modeling, fuzzy PID controller, genetic algorithm (GA)

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Authors: Anna Daskalaki, Andreas Ashikalis

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This is a conceptual project that suggests an alternative type of summer camp in the forest of Rouvas in the island of Crete. Taking into account some feasts that are organised by the locals or mountaineering clubs near the church of St. John, we created a network of lightweight timber structures that serve the needs of the visitor. These structures are transformable and satisfy the need for rest, food, and sleep – this means a seat, a table and a tent are embodied in each structure. These structures blend in with the environment as they are being installed according to the following parameters: (a) the local relief, (b) the clusters of trees, and (c) the existing paths. Each timber structure could be considered as a module that could be totally independent or part of a bigger construction. The design showcases the advantages of a timber structure as it can be quite adaptive to the needs of the project, but also it is a sustainable and environmentally friendly material that can be recycled. Finally, it is important to note that the basic goal of this project is the minimum alteration of the natural environment.

Keywords: lightweight structures, timber, transformable, tent

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Authors: H. A. Erdogan

Abstract:

Historical masonry arch bridges built centuries ago have fulfilled their function until recent decades. However, from the beginning of 20th century, these bridges have remained inadequate as a result of increasing speed, size and capacity of the means of transport. Although new bridges have been built in many places, masonry bridges located within the city limits still need to be used. When the size and transportation loads of modern vehicles are taken into account, it is apparent that historical masonry arch bridges would be exposed to greater loads than their initial design loads. Because of that, many precautions taken either remain insufficient or damage these bridges. In this study, the history of Debbaglar Bridge, one of the historic bridges located in the city center of Aksaray/Turkey is presented and its existing condition is evaluated. Structural analysis of the bridge under present conditions and loads is explained. Moreover, the retrofit and restoration application prepared considering the analysis data is described.

Keywords: adaptive re-use, Aksaray debbaglar bridge, masonry bridge, reconstruction

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Authors: M. Bouferhane, A. Boukhebza, L. Hatab

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In this paper, the position control of linear induction motor using fuzzy sliding mode controller design is proposed. First, the indirect field oriented control LIM is derived. Then, a designed sliding mode control system with an integral-operation switching surface is investigated, in which a simple adaptive algorithm is utilized for generalised soft-switching parameter. Finally, a fuzzy sliding mode controller is derived to compensate the uncertainties which occur in the control, in which the fuzzy logic system is used to dynamically control parameter settings of the SMC control law. The effectiveness of the proposed control scheme is verified by numerical simulation. The experimental results of the proposed scheme have presented good performances compared to the conventional sliding mode controller.

Keywords: linear induction motor, vector control, backstepping, fuzzy-sliding mode control

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Authors: Michael Nicolosi, Karola Dillenburger

Abstract:

The University of California at Los Angeles-Young Autism Project (UCLA-YAP) provides one of the best-known and most researched comprehensive applied behavior analysis-based intervention models for young children on the autism spectrum. This paper reports a systematic literature review of replication studies over more than 30 years. The data show that the relatively high-intensity UCLA-YAP model can be greatly beneficial for children on the autism spectrum, particularly with regard to their cognitive functioning and adaptive behavior. This review concludes that, while more research is always welcome, the impact of the UCLA-YAP model on autism interventions is justified by more than 30 years of outcome evidence.

Keywords: ABA, applied behavior analysis, autism, California at Los Angeles Young Autism project, intervention, Lovaas, UCLA-YAP

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Authors: Osama Elsarrar, Marjorie Darrah, Richard Devin

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This paper discusses the idea of capturing an expert’s knowledge in the form of human understandable rules and then inserting these rules into a dynamic cell structure (DCS) neural network. The DCS is a form of self-organizing map that can be used for many purposes, including classification and prediction. This particular neural network is considered to be a topology preserving network that starts with no pre-structure, but assumes a structure once trained. The DCS has been used in mission and safety-critical applications, including adaptive flight control and health-monitoring in aerial vehicles. The approach is to insert expert knowledge into the DCS before training. Rules are translated into a pre-structure and then training data are presented. This idea has been demonstrated using the well-known Iris data set and it has been shown that inserting the pre-structure results in better accuracy with the same training.

Keywords: neural network, self-organizing map, rule extraction, rule insertion

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Authors: Chang-Hsing Lee, Cheng-Chang Lien, Chin-Chuan Han

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In this paper, an edge-strength guided multiscale retinex (EGMSR) approach will be proposed for color image contrast enhancement. In EGMSR, the pixel-dependent weight associated with each pixel in the single scale retinex output image is computed according to the edge strength around this pixel in order to prevent from over-enhancing the noises contained in the smooth dark/bright regions. Further, by fusing together the enhanced results of EGMSR and adaptive multiscale retinex (AMSR), we can get a natural fused image having high contrast and proper tonal rendition. Experimental results on several low-contrast images have shown that our proposed approach can produce natural and appealing enhanced images.

Keywords: image enhancement, multiscale retinex, image fusion, EGMSR

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Authors: Tatiana A. Dolenko, Sergey A. Burikov, Alexander O. Efitorov, Sergey A. Dolenko

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In this study, a comparative analysis of the approaches associated with the use of neural network algorithms for effective solution of a complex inverse problem – the problem of identifying and determining the individual concentrations of inorganic salts in multicomponent aqueous solutions by the spectra of Raman scattering of light – is performed. It is shown that application of artificial neural networks provides the average accuracy of determination of concentration of each salt no worse than 0.025 M. The results of comparative analysis of input data compression methods are presented. It is demonstrated that use of uniform aggregation of input features allows decreasing the error of determination of individual concentrations of components by 16-18% on the average.

Keywords: inverse problems, multi-component solutions, neural networks, Raman spectroscopy

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Authors: Danilo López, Edwin Rivas, Fernando Pedraza

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Currently, one of the major challenges in wireless networks is the optimal use of radio spectrum, which is managed inefficiently. One of the solutions to existing problem converges in the use of Cognitive Radio (CR), as an essential parameter so that the use of the available licensed spectrum is possible (by secondary users), well above the usage values that are currently detected; thus allowing the opportunistic use of the channel in the absence of primary users (PU). This article presents the results found when estimating or predicting the future use of a spectral transmission band (from the perspective of the PU) for a chaotic type channel arrival behavior. The time series prediction method (which the PU represents) used is ANFIS (Adaptive Neuro Fuzzy Inference System). The results obtained were compared to those delivered by the RNA (Artificial Neural Network) algorithm. The results show better performance in the characterization (modeling and prediction) with the ANFIS methodology.

Keywords: ANFIS, cognitive radio, prediction primary user, RNA

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Authors: Elena Jiménez Lidueña, Noelia Santos Muriel, Patricia López Resa, Noelia Pulido García, Esther Moraleda Sepúlveda

Abstract:

In recent years, there has been a notable increase in the number of investigations that establish that Down Syndrome and Autism Spectrum Disorder are diagnoses that can coexist together. However, there are also many studies that consider that both diagnoses present neuropsychological, linguistic and adaptive characteristics with a totally different profiles. The objective of this research is to question whether there really can be a profile that encompasses both disorders or if they can be incompatible with each other. To this end, a review of the scientific literature of recent years has been carried out. The results indicate that the two lines collect opposite approaches. On the one hand, there is research that supports the increase in comorbidity between Down Syndrome and Autism Spectrum Disorder and, on the other hand, shows a totally different general development profile between the two. The discussion focuses on discussing both lines of work and on proposing future lines of research in this regard.

Keywords: Down Syndrome, Autism, comorbidity, linguistic

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Authors: Zijian Zhang, Yangyang Dong

Abstract:

Synchronization is of great importance to ensure the multi-arm robot to complete the task. Therefore, a synchronous controller is designed to coordinate task space motion of the multi-arm in the paper. The position error, the synchronous position error, and the coupling position error are all considered in the controller. Besides, an adaptive control method is used to adjust parameters of the controller to improve the effectiveness of coordinated control performance. Simulation in the Matlab shows the effectiveness of the method. At last, a robot experiment platform with two 7-DOF (Degree of Freedom) robot arms has been established and the synchronous controller simplified to control dual-arm robot has been validated on the experimental set-up. Experiment results show the position error decreased 10% and the corresponding frequency is also greatly improved.

Keywords: synchronous control, space robot, task space control, multi-arm robot

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Authors: Temitope Faloye

Abstract:

In today’s changing job market economy, most employers of labor want employees who are employable and possess relevant skills. Graduates need to possess generic skills due to the continually changing nature of the job market, which requires adaptive coping strategies. Most employers of labor complain that graduates are not employable, which is one of the major factors causing a high rate of graduate unemployment in Nigeria. However, the number of unemployed females is higher than that of unemployed males; hence gender difference is linked to the employability of graduates. The human capital theory is considered an appropriate theory for this study. A qualitative approach will be used to provide answers to the research questions. Therefore, the research study aims to investigate the employers’ perspective on female graduate employability in Nigeria.

Keywords: graduate employability, generic skills, graduate unemployment, gender

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Authors: Oya Bulut, Oguzhan Avci, Zafer Bulut, Atilla Simsek

Abstract:

Livestock breeders have focused on the improvement of production traits with little or no attention for improvement of disease resistance traits. In order to determine the association between the genetic structure of the individual gene loci with possibility of the occurrence and the development of diseases, MHC (major histocompatibility complex) are frequently used. Because of their importance in the immune system, MHC locus is considered as candidate genes for resistance/susceptibility against to different diseases. Major histocompatibility complex (MHC) molecules play a critical role in both innate and adaptive immunity and have been considered candidate molecular markers of an association between polymorphisms and resistance/susceptibility to diseases. The purpose of this study is to give some information about MHC genes become an important area of study in recent years in terms of animal husbandry and determine the relation between MHC genes and resistance/susceptibility to disease.

Keywords: MHC, polymorphism, disease, resistance

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Authors: Saeed Mahjoub Moghadas, Farhad Asadi, Shahed Torkamandi, Hassan Moradi, Mahmood Purgamshidian

Abstract:

In this paper, we present real-time obstacle avoidance approach for both autonomous and non-autonomous DS-based controllers and also based on dynamical systems (DS) method. In this approach, we can modulate the original dynamics of the controller and it allows us to determine safety margin and different types of DS to increase the robot’s reactiveness in the face of uncertainty in the localization of the obstacle and especially when robot moves very fast in changeable complex environments. The method is validated in simulation and influence of different autonomous and non-autonomous DS such as limit cycles, and unstable DS on this algorithm and also the position of different obstacles in complex environment is explained. Finally, we describe how the avoidance trajectories can be verified through different parameters such as safety factor.

Keywords: limit cycles, nonlinear dynamical system, real time obstacle avoidance, DS-based controllers

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Authors: Sameil Hanna Samweil Botros

Abstract:

The variation of social networking websites inside higher training has garnered enormous hobby in recent years, with numerous researchers thinking about it as a possible shift from the conventional lecture room-based learning paradigm. However, this boom in research and carried out research, but the adaption of SNS-based modules has not proliferated inside universities. This paper commences its contribution with the aid of studying the numerous fashions and theories proposed in the literature and amalgamates together various effective aspects for the inclusion of social technology within e-gaining knowledge. A three-phased framework is similarly proposed, which informs the important concerns for the hit edition of SNS in improving the student's mastering experience. This suggestion outlines the theoretical foundations as a way to be analyzed in sensible implementation across worldwide university campuses.

Keywords: eLearning, institutionalization, teaching and learning, transformation vtuber, ray tracing, avatar agriculture, adaptive, e-learning, technology eLearning, higher education, social network sites, student learning

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Authors: Sebastião Pais, João Casal, Ricardo Ponciano, Sérgio Lourenço

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The adaptation paradigm is a basic defining feature for pervasive computing systems. Adaptation systems must work efficiently in smart environment while providing suitable information relevant to the user system interaction. The key objective is to deduce the information needed information changes. Therefore, relying on fixed operational models would be inappropriate. This paper presents a study on developing a Intelligent Personal Assistant to assist the user in interacting with their Smart Environment. We propose a Unsupervised and Language-Independent Adaptation through Intelligent Speech Interface and a set of methods of Acquiring Knowledge, namely Semantic Similarity and Unsupervised Learning.

Keywords: intelligent personal assistants, intelligent speech interface, unsupervised learning, language-independent, knowledge acquisition, association measures, symmetric word similarities, attributional word similarities

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Authors: Mafalda Moreira, Diana Alba, Inês Paiva Ferreira, Rita Calejo, Ana Rita Soares, Leonilde Machado

Abstract:

Intellectual disability (ID) is characterized by deficits in intellectualfunctioningassociatedwithalterations in the adaptive behaviour, whose onset is inthedevelopmentalperiod. Itaffects 3% of the population, ofwhich 10% have a geneticaetiology. One of those causes isAlwadeiSyndrome, with 3 cases describedworldwide. It results from a homozygous nonsense mutation in theRUSC2 gene andisassociatedwithintellectualdisabilityanddysmorphic facialfeatures. Theauthorsreportthe case of a 5-year-old-boy, born to a healthymotherafter a full-termuneventfulpregnancy, thatwasreferred to Neurodevelopmentalconsultationdue toglobal developmentaldelay. Familyhistoryrevealedlearningdifficulties in the paternal brotherhood. Milddismorphicfeatureswereevidentsuch as darkinfraorbitalregion, low-set ears, beakednose, retrognathism, high-archedpalateandjointhyperlaxity. WechslerIntelligenceScale for Children III fullscaleIQ quoted 61. Karyotypeandchromosomalmicroarrayanalysiswerenormal, as well as the fragile X molecular study. DNA sequencingwasthenperformedandallowedtheidentificationof amutation in the RUSC2 gene. Theetiologicaldiagnosisof ID remains unknown in up to 80% of cases, creatinguncertainty in children’sfamilies. Theadvances in DNA sequencingtechnologieshaveincreasedourknowledgeofthegeneticdiseasesinvolved, as theAlwadeisyndromewasonlydescribedsince 2016. Thegeneticdiagnosisof ID allowsfamilygeneticcounselingandenablesthedevelopmentof target therapeutic approaches.

Keywords: intellectual disability, genetic aetiology, alwadei syndrome, RUSC2

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