Search results for: genetic resource
3496 Alwadei Syndrome - A Genetic Cause Of Intellectual Disability
Authors: Mafalda Moreira, Diana Alba, Inês Paiva Ferreira, Rita Calejo, Ana Rita Soares, Leonilde Machado
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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
Procedia PDF Downloads 1793495 Effectiveness of Earthing System in Vertical Configurations
Authors: S. Yunus, A. Suratman, N. Mohamad Nor, M. Othman
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This paper presents the measurement and simulation results by Finite Element Method (FEM) for earth resistance (RDC) for interconnected vertical ground rod configurations. The soil resistivity was measured using the Wenner four-pin Method, and RDC was measured using the Fall of Potential (FOP) method, as outlined in the standard. Genetic Algorithm (GA) is employed to interpret the soil resistivity to that of a 2-layer soil model. The same soil resistivity data that were obtained by Wenner four-pin method were used in FEM for simulation. This paper compares the results of RDC obtained by FEM simulation with the real measurement at field site. A good agreement was seen for RDC obtained by measurements and FEM. This shows that FEM is a reliable software to be used for design of earthing systems. It is also found that the parallel rod system has a better performance compared to a similar setup using a grid layout.Keywords: earthing system, earth electrodes, finite element method, genetic algorithm, earth resistances
Procedia PDF Downloads 1103494 The Role of Human Resource Flexibility and Agility in Achieving Sustainable Competitiveness
Authors: Agnieszka Leszczynska
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Flexibility and agility constitute the most dominant features of modern human resource management systems. The former pertains to procedures, practices and competences of human resources, and the latter to the procedures and practices’ effectiveness in dealing with changing conditions in the surrounding environment. The purpose of the paper is to present the relations between the flexibility and agility of human resources and achieving sustainable competitiveness. Based upon hitherto research, we develop a conceptual model that links the constructs together. The conducted study is of theoretical and conceptual nature. Critical literature analysis and the synthesis method were applied. A premise was made that the three dimensions of HR (Human Resources) flexibility (employee skill flexibility, employee behaviour flexibility, and HR practice flexibility) and HR agility affect competitiveness, by increasing the flexibility, creativity of human resources, and improving quality performance, and exert an impact upon the quality of life of employees and social relations. In particular, the agility and flexibility of human resources contribute to the growth of adaptability and strategic orientation, which directly affects the organization's competitiveness. The research results will help to better understand the impact of flexibility and agility related to the HRM (Human Resources Management) system upon the implementation of the concept of sustainable development in the organization.Keywords: agility, human resource, sustainable competitiveness, sustainable development
Procedia PDF Downloads 2223493 Determination of the Risks of Heart Attack at the First Stage as Well as Their Control and Resource Planning with the Method of Data Mining
Authors: İbrahi̇m Kara, Seher Arslankaya
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Frequently preferred in the field of engineering in particular, data mining has now begun to be used in the field of health as well since the data in the health sector have reached great dimensions. With data mining, it is aimed to reveal models from the great amounts of raw data in agreement with the purpose and to search for the rules and relationships which will enable one to make predictions about the future from the large amount of data set. It helps the decision-maker to find the relationships among the data which form at the stage of decision-making. In this study, it is aimed to determine the risk of heart attack at the first stage, to control it, and to make its resource planning with the method of data mining. Through the early and correct diagnosis of heart attacks, it is aimed to reveal the factors which affect the diseases, to protect health and choose the right treatment methods, to reduce the costs in health expenditures, and to shorten the durations of patients’ stay at hospitals. In this way, the diagnosis and treatment costs of a heart attack will be scrutinized, which will be useful to determine the risk of the disease at the first stage, to control it, and to make its resource planning.Keywords: data mining, decision support systems, heart attack, health sector
Procedia PDF Downloads 3563492 Robust Fault Diagnosis for Wind Turbine Systems Subjected to Multi-Faults
Authors: Sarah Odofin, Zhiwei Gao, Sun Kai
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Operations, maintenance and reliability of wind turbines have received much attention over the years due to rapid expansion of wind farms. This paper explores early fault diagnosis scale technique based on a unique scheme of a 5MW wind turbine system that is optimized by genetic algorithm to be very sensitive to faults and resilient to disturbances. A quantitative model based analysis is pragmatic for primary fault diagnosis monitoring assessment to minimize downtime mostly caused by components breakdown and exploit productivity consistency. Simulation results are computed validating the wind turbine model which demonstrates system performance in a practical application of fault type examples. The results show the satisfactory effectiveness of the applied performance investigated in a Matlab/Simulink/Gatool environment.Keywords: disturbance robustness, fault monitoring and detection, genetic algorithm, observer technique
Procedia PDF Downloads 3793491 Resource Allocation Modeling and Simulation in Border Security Application
Authors: Kai Jin, Hua Li, Qing Song
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Homeland security and border safety is an issue for any country. This paper takes the border security of US as an example to discuss the usage and efficiency of simulation tools in the homeland security application. In this study, available resources and different illegal infiltration parameters are defined, including their individual behavior and objective, in order to develop a model that describes border patrol system. A simulation model is created in Arena. This simulation model is used to study the dynamic activities in the border security. Possible factors that may affect the effectiveness of the border patrol system are proposed. Individual and factorial analysis of these factors is conducted and some suggestions are made.Keywords: resource optimization, simulation, modeling, border security
Procedia PDF Downloads 5163490 Beyond Voluntary Corporate Social Responsibility: Examining the Impact of the New Mandatory Community Development Agreement in the Mining Sector of Sierra Leone
Authors: Wusu Conteh
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Since the 1990s, neo-liberalization has become a global agenda. The free market ushered in an unprecedented drive by Multinational Corporations (MNCs) to secure mineral rights in resource-rich countries. Several governments in the Global South implemented a liberalized mining policy with support from the International Financial Institutions (IFIs). MNCs have maintained that voluntary Corporate Social Responsibility (CSR) has engendered socio-economic development in mining-affected communities. However, most resource-rich countries are struggling to transform the resources into sustainable socio-economic development. They are trapped in what has been widely described as the ‘resource curse.’ In an attempt to address this resource conundrum, the African Mining Vision (AMV) of 2009 developed a model on resource governance. The advent of the AMV has engendered the introduction of mandatory community development agreement (CDA) into the legal framework of many countries in Africa. In 2009, Sierra Leone enacted the Mines and Minerals Act that obligates mining companies to invest in Primary Host Communities. The study employs interviews and field observation techniques to explicate the dynamics of the CDA program. A total of 25 respondents -government officials, NGOs/CSOs and community stakeholders were interviewed. The study focuses on a case study of the Sierra Rutile CDA program in Sierra Leone. Extant scholarly works have extensively explored the resource curse and voluntary CSR. There are limited studies to uncover the mandatory CDA and its impact on socio-economic development in mining-affected communities. Thus, the purpose of this study is to explicate the impact of the CDA in Sierra Leone. Using the theory of change helps to understand how the availability of mandatory funds can empower communities to take an active part in decision making related to the development of the communities. The results show that the CDA has engendered a predictable fund for community development. It has also empowered ordinary members of the community to determine the development program. However, the CDA has created a new ground for contestations between the pre-existing local governance structure (traditional authority) and the newly created community development committee (CDC) that is headed by an ordinary member of the community.Keywords: community development agreement, impact, mandatory, participation
Procedia PDF Downloads 1233489 The Molecular Biology Behind the Spread of Breast Cancer Inflammatory Breast Cancer: Symptoms and Genetic Factors
Authors: Fakhrosadat Sajjadian
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In the USA, about 5% of women diagnosed with breast cancer annually are affected by Inflammatory Breast Cancer (IBC), which is a highly aggressive type of Locally Advanced Breast Cancer (LABC). It is a type of LABC that is clinically and pathologically different, known for its rapid growth, invasiveness, and ability to promote the growth of blood vessels. Almost all women are found to have lymph nodes affected upon diagnosis, while around 36% show obvious distant metastases. Even with the latest improvements in multimodality therapies, the outlook for patients with IBC remains bleak, as the average disease-free survival time is less than 2.5 years. Recent research on the genetic factors responsible for the IBC phenotype has resulted in the discovery of genes that play a role in the advancement of this illness. The development of primary human cell lines and animal models has assisted in this research. These advancements offer new possibilities for future actions in identifying and treating IBC.Keywords: breast cancer, inflammation, diagnosis, IBC, LABC
Procedia PDF Downloads 433488 Use of Interpretable Evolved Search Query Classifiers for Sinhala Documents
Authors: Prasanna Haddela
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Document analysis is a well matured yet still active research field, partly as a result of the intricate nature of building computational tools but also due to the inherent problems arising from the variety and complexity of human languages. Breaking down language barriers is vital in enabling access to a number of recent technologies. This paper investigates the application of document classification methods to new Sinhalese datasets. This language is geographically isolated and rich with many of its own unique features. We will examine the interpretability of the classification models with a particular focus on the use of evolved Lucene search queries generated using a Genetic Algorithm (GA) as a method of document classification. We will compare the accuracy and interpretability of these search queries with other popular classifiers. The results are promising and are roughly in line with previous work on English language datasets.Keywords: evolved search queries, Sinhala document classification, Lucene Sinhala analyzer, interpretable text classification, genetic algorithm
Procedia PDF Downloads 1143487 Joubert Syndrome: A Rare Genetic Disorder Reported in Kurdish Family
Authors: Aran Abd Al Rahman
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Joubert syndrome regards as a congenital cerebellar ataxia caused by autosomal recessive carried on X chromosome. The disease diagnosed by brain imaging—the so-called molar tooth sign. Neurological signs were present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 30 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus, The purpose of our project was to detect the mutant gene (INPP5E gene) which cause Joubert syndrome. There were many methods used for diagnosis such as MRI and CT- scan and molecular diagnosis by doing ARMS PCR for detection of mutant gene that we were used in this research project. In this research for individual family which reported, the two children with parents, the two children were affected and were carrier.Keywords: Joubert syndrome, genetic disease, Kurdistan region, Sulaimani
Procedia PDF Downloads 1413486 On Multiobjective Optimization to Improve the Scalability of Fog Application Deployments Using Fogtorch
Authors: Suleiman Aliyu
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Integrating IoT applications with Fog systems presents challenges in optimization due to diverse environments and conflicting objectives. This study explores achieving Pareto optimal deployments for Fog-based IoT systems to address growing QoS demands. We introduce Pareto optimality to balance competing performance metrics. Using the FogTorch optimization framework, we propose a hybrid approach (Backtracking search with branch and bound) for scalable IoT deployments. Our research highlights the advantages of Pareto optimality over single-objective methods and emphasizes the role of FogTorch in this context. Initial results show improvements in IoT deployment cost in Fog systems, promoting resource-efficient strategies.Keywords: pareto optimality, fog application deployment, resource allocation, internet of things
Procedia PDF Downloads 883485 Refactoring Object Oriented Software through Community Detection Using Evolutionary Computation
Authors: R. Nagarani
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An intrinsic property of software in a real-world environment is its need to evolve, which is usually accompanied by the increase of software complexity and deterioration of software quality, making software maintenance a tough problem. Refactoring is regarded as an effective way to address this problem. Many refactoring approaches at the method and class level have been proposed. But the extent of research on software refactoring at the package level is less. This work presents a novel approach to refactor the package structures of object oriented software using genetic algorithm based community detection. It uses software networks to represent classes and their dependencies. It uses a constrained community detection algorithm to obtain the optimized community structures in software networks, which also correspond to the optimized package structures. It finally provides a list of classes as refactoring candidates by comparing the optimized package structures with the real package structures.Keywords: community detection, complex network, genetic algorithm, package, refactoring
Procedia PDF Downloads 4183484 Differential Analysis: Crew Resource Management and Profiles on the Balanced Inventory of Desirable Responding
Authors: Charalambos C. Cleanthous, Ryan Sain, Tabitha Black, Stephen Vera, Suzanne Milton
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A concern when administering questionnaires is whether the participant is providing information that is accurate. The results may be invalid because the person is trying to present oneself in an unrealistic positive manner referred to as ‘faking good’, or in an unrealistic negative manner known as ‘faking bad’. The Balanced Inventory of Desirable Responding (BIDR) was used to assess commercial pilots’ responses on the two subscales of the BIDR: impression management (IM) and self-deceptive enhancement (SDE) that result in high or low scores. Thus, the BIDR produces four valid profiles: IM low and SDE low, IM high and SDE low, IM low and SDE high, and IM high and SDE high. The various profiles were used to compare the respondents’ answers to crew resource management (CRM) items developed from the USA Federal Aviation Administration’s (FAA) guidelines for CRM composition and training. Of particular interest were the results on the IM subscale. The comparisons between those scoring high (lying or faking) versus those low on the IM suggest that there were significant differences regarding their views of the various dimensions of CRM. One of the more disconcerting conclusions is that the high IM scores suggest that the pilots were trying to impress rather than honestly answer the questions regarding their CRM training and practice.Keywords: USA commercial pilots, crew resource management, faking, social desirability
Procedia PDF Downloads 2563483 From Orthodox to Haploid Mitochondrial DNA Markers: Exploring the Datum Folder of population of Sindh in Pakistan
Authors: Shahzad Bhattiab, M. Aslamkhana, Sana Abbasbc, Marcella Attimonellid, Kumarasamy Thangaraje, Erica Martinha Silva de Souzaf, Uzay U. Sezen
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The present study was designed to investigate three regions of mitochondrial DNA, HVI, HVII and HVIII, to hold a powwow genetic diversity and affiliations in 115 probands of 6 major ethnic groups, viz., Bijarani, Chandio, Ghallu, Khoso, Nasrani and Solangi, in the province of Sindh of Pakistan. For this purpose 88 haplotypes were scrutinized, defined by particular set of nucleotides (ignoring the C insertions around position 309 and 315). In spite of that 82% sequences were observed once, 12 % twice and 5.2 % thrice. The most common South Asian haplotypes were observed M (42%), N (6.9%) and R (6.9%) whereas west Eurasian haplotypes were J (1.7%), U (23.4%), H (9.5%), W (6.9%) and T (0.86%), in six ethnic groups. A random match probability between two unrelated individuals was found 0.06 %, while genetic diversity was ranged to be 0.991 to 0.999, and nucleotide diversity ranged from 0.0089 to 0.0142 for the whole control region of the population studied.Keywords: mtDNA haplogroups, control region, Pakistan, Sindh, ethnicity
Procedia PDF Downloads 4133482 Hybrid Adaptive Modeling to Enhance Robustness of Real-Time Optimization
Authors: Hussain Syed Asad, Richard Kwok Kit Yuen, Gongsheng Huang
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Real-time optimization has been considered an effective approach for improving energy efficient operation of heating, ventilation, and air-conditioning (HVAC) systems. In model-based real-time optimization, model mismatches cannot be avoided. When model mismatches are significant, the performance of the real-time optimization will be impaired and hence the expected energy saving will be reduced. In this paper, the model mismatches for chiller plant on real-time optimization are considered. In the real-time optimization of the chiller plant, simplified semi-physical or grey box model of chiller is always used, which should be identified using available operation data. To overcome the model mismatches associated with the chiller model, hybrid Genetic Algorithms (HGAs) method is used for online real-time training of the chiller model. HGAs combines Genetic Algorithms (GAs) method (for global search) and traditional optimization method (i.e. faster and more efficient for local search) to avoid conventional hit and trial process of GAs. The identification of model parameters is synthesized as an optimization problem; and the objective function is the Least Square Error between the output from the model and the actual output from the chiller plant. A case study is used to illustrate the implementation of the proposed method. It has been shown that the proposed approach is able to provide reliability in decision making, enhance the robustness of the real-time optimization strategy and improve on energy performance.Keywords: energy performance, hybrid adaptive modeling, hybrid genetic algorithms, real-time optimization, heating, ventilation, and air-conditioning
Procedia PDF Downloads 4173481 Medical Advances in Diagnosing Neurological and Genetic Disorders
Authors: Simon B. N. Thompson
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Retinoblastoma is a rare type of childhood genetic cancer that affects children worldwide. The diagnosis is often missed due to lack of education and difficulty in presentation of the tumor. Frequently, the tumor on the retina is noticed by photography when the red-eye flash, commonly seen in normal eyes, is not produced. Instead, a yellow or white colored patch is seen or the child has a noticeable strabismus. Early detection can be life-saving though often results in removal of the affected eye. Remaining functioning in the healthy eye when the child is young has resulted in super-vision and high or above-average intelligence. Technological advancement of cameras has helped in early detection. Brain imaging has also made possible early detection of neurological diseases and, together with the monitoring of cortisol levels and yawning frequency, promises to be the next new early diagnostic tool for the detection of neurological diseases where cortisol insufficiency is particularly salient, such as multiple sclerosis and Cushing’s disease.Keywords: cortisol, neurological disease, retinoblastoma, Thompson cortisol hypothesis, yawning
Procedia PDF Downloads 3863480 Optimization of Territorial Spatial Functional Partitioning in Coal Resource-based Cities Based on Ecosystem Service Clusters - The Case of Gujiao City in Shanxi Province
Authors: Gu Sihao
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The coordinated development of "ecology-production-life" in cities has been highly concerned by the country, and the transformation development and sustainable development of resource-based cities have become a hot research topic at present. As an important part of China's resource-based cities, coal resource-based cities have the characteristics of large number and wide distribution. However, due to the adjustment of national energy structure and the gradual exhaustion of urban coal resources, the development vitality of coal resource-based cities is gradually reduced. In many studies, the deterioration of ecological environment in coal resource-based cities has become the main problem restricting their urban transformation and sustainable development due to the "emphasis on economy and neglect of ecology". Since the 18th National Congress of the Communist Party of China (CPC), the Central Government has been deepening territorial space planning and development. On the premise of optimizing territorial space development pattern, it has completed the demarcation of ecological protection red lines, carried out ecological zoning and ecosystem evaluation, which have become an important basis and scientific guarantee for ecological modernization and ecological civilization construction. Grasp the regional multiple ecosystem services is the precondition of the ecosystem management, and the relationship between the multiple ecosystem services study, ecosystem services cluster can identify the interactions between multiple ecosystem services, and on the basis of the characteristics of the clusters on regional ecological function zoning, to better Social-Ecological system management. Based on this cognition, this study optimizes the spatial function zoning of Gujiao, a coal resource-based city, in order to provide a new theoretical basis for its sustainable development. This study is based on the detailed analysis of characteristics and utilization of Gujiao city land space, using SOFM neural networks to identify local ecosystem service clusters, according to the cluster scope and function of ecological function zoning of space partition balance and coordination between different ecosystem services strength, establish a relationship between clusters and land use, and adjust the functions of territorial space within each zone. Then, according to the characteristics of coal resources city and national spatial function zoning characteristics, as the driving factors of land change, by cellular automata simulation program, such as simulation under different restoration strategy situation of urban future development trend, and provides relevant theories and technical methods for the "third-line" demarcations of Gujiao's territorial space planning, optimizes territorial space functions, and puts forward targeted strategies for the promotion of regional ecosystem services, providing theoretical support for the improvement of human well-being and sustainable development of resource-based cities.Keywords: coal resource-based city, territorial spatial planning, ecosystem service cluster, gmop model, geosos-FLUS model, functional zoning optimization and upgrading
Procedia PDF Downloads 613479 Assessing Proteomic Variations Due to Genetic Modification of Tomatoes Using Three Complementary Approaches
Authors: Hanaa A. S. Oraby, Amal A. M. Hassan, Mahmoud M. Sakr, Atef A. A. Haiba
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Applying the profiling approach for the assessment of proteomic variations due to genetic modification of the Egyptian tomato cultivar "Edkawy", three complementary approaches were used. These methods are amino acids analysis, gel electrophoresis, and Gas chromatography coupled with mass spectrometry (GC/MS). The results of the present study Show evidence of proteomic variations between both modified tomato and its non-modified counterpart. Amino acids concentrations, and the protein patterns separation on the 1D SDS-PAGE were not similar in the case of transformed tomato compared to that of the non-transformed counterpart. These detected differences are most likely derived from the process of transformation. Results also revealed that the efficiency of GC/MS approach to identify a mixture of unknown proteins is limited. GC/MS analysis was only able to identify few number of protein molecules. Therefore, more advanced and specific technologies like MALDI-TOF-MS are recommended to be employed.Keywords: GMOs, unintended effects, proteomic variations, 1D SDS-PAGE, GC/MS
Procedia PDF Downloads 4543478 Measuring Resource Recovery and Environmental Benefits of Global Waste Management System Using the Zero Waste Index
Authors: Atiq Uz Zaman
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Sustainable waste management is one of the major global challenges that we face today. A poor waste management system not only symbolises the inefficiency of our society but also depletes valuable resources and emits pollutions to the environment. Presently, we extract more natural resources than ever before in order to meet the demand for constantly growing resource consumption. It is estimated that around 71 tonnes of ‘upstream’ materials are used for every tonne of MSW. Therefore, resource recovery from waste potentially offsets a significant amount of upstream resource being depleted. This study tries to measure the environmental benefits of global waste management systems by applying a tool called the Zero Waste Index (ZWI). The ZWI measures the waste management performance by accounting for the potential amount of virgin material that can be offset by recovering resources from waste. In addition, the ZWI tool also considers the energy, GHG and water savings by offsetting virgin materials and recovering energy from waste. This study analyses the municipal solid waste management system of 172 countries from all over the globe and the population covers in the study is 3.37 billion. This study indicates that we generated around 1.47 billion tonnes (436kg/cap/year) of municipal solid waste each year and the waste generation is increasing over time. This study also finds a strong and positive correlation (R2=0.29, p = < .001) between income (GDP/capita/year) and amount of waste generated (kg/capita/year). About 84% of the waste is collected globally and only 15% of the collected waste is recycled. The ZWI of the world is measured in this study of 0.12, which means that the current waste management system potentially offsets only 12% of the total virgin material substitution potential from waste. Annually, an average person saved around 219kWh of energy, emitted around 48kg of GHG and saved around 38l of water. Findings of this study are very important to measure the current waste management performance in a global context. In addition, the study also analysed countries waste management performance based on their income level.Keywords: global performance, material substitution; municipal waste, resource recovery, waste management, zero waste index
Procedia PDF Downloads 2443477 Association between Polygenic Risk of Alzheimer's Dementia, Brain MRI and Cognition in UK Biobank
Authors: Rachana Tank, Donald. M. Lyall, Kristin Flegal, Joey Ward, Jonathan Cavanagh
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Alzheimer’s research UK estimates by 2050, 2 million individuals will be living with Late Onset Alzheimer’s disease (LOAD). However, individuals experience considerable cognitive deficits and brain pathology over decades before reaching clinically diagnosable LOAD and studies have utilised gene candidate studies such as genome wide association studies (GWAS) and polygenic risk (PGR) scores to identify high risk individuals and potential pathways. This investigation aims to determine whether high genetic risk of LOAD is associated with worse brain MRI and cognitive performance in healthy older adults within the UK Biobank cohort. Previous studies investigating associations of PGR for LOAD and measures of MRI or cognitive functioning have focused on specific aspects of hippocampal structure, in relatively small sample sizes and with poor ‘controlling’ for confounders such as smoking. Both the sample size of this study and the discovery GWAS sample are bigger than previous studies to our knowledge. Genetic interaction between loci showing largest effects in GWAS have not been extensively studied and it is known that APOE e4 poses the largest genetic risk of LOAD with potential gene-gene and gene-environment interactions of e4, for this reason we also analyse genetic interactions of PGR with the APOE e4 genotype. High genetic loading based on a polygenic risk score of 21 SNPs for LOAD is associated with worse brain MRI and cognitive outcomes in healthy individuals within the UK Biobank cohort. Summary statistics from Kunkle et al., GWAS meta-analyses (case: n=30,344, control: n=52,427) will be used to create polygenic risk scores based on 21 SNPs and analyses will be carried out in N=37,000 participants in the UK Biobank. This will be the largest study to date investigating PGR of LOAD in relation to MRI. MRI outcome measures include WM tracts, structural volumes. Cognitive function measures include reaction time, pairs matching, trail making, digit symbol substitution and prospective memory. Interaction of the APOE e4 alleles and PGR will be analysed by including APOE status as an interaction term coded as either 0, 1 or 2 e4 alleles. Models will be adjusted partially for adjusted for age, BMI, sex, genotyping chip, smoking, depression and social deprivation. Preliminary results suggest PGR score for LOAD is associated with decreased hippocampal volumes including hippocampal body (standardised beta = -0.04, P = 0.022) and tail (standardised beta = -0.037, P = 0.030), but not with hippocampal head. There were also associations of genetic risk with decreased cognitive performance including fluid intelligence (standardised beta = -0.08, P<0.01) and reaction time (standardised beta = 2.04, P<0.01). No genetic interactions were found between APOE e4 dose and PGR score for MRI or cognitive measures. The generalisability of these results is limited by selection bias within the UK Biobank as participants are less likely to be obese, smoke, be socioeconomically deprived and have fewer self-reported health conditions when compared to the general population. Lack of a unified approach or standardised method for calculating genetic risk scores may also be a limitation of these analyses. Further discussion and results are pending.Keywords: Alzheimer's dementia, cognition, polygenic risk, MRI
Procedia PDF Downloads 1133476 Parallel Genetic Algorithms Clustering for Handling Recruitment Problem
Authors: Walid Moudani, Ahmad Shahin
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This research presents a study to handle the recruitment services system. It aims to enhance a business intelligence system by embedding data mining in its core engine and to facilitate the link between job searchers and recruiters companies. The purpose of this study is to present an intelligent management system for supporting recruitment services based on data mining methods. It consists to apply segmentation on the extracted job postings offered by the different recruiters. The details of the job postings are associated to a set of relevant features that are extracted from the web and which are based on critical criterion in order to define consistent clusters. Thereafter, we assign the job searchers to the best cluster while providing a ranking according to the job postings of the selected cluster. The performance of the proposed model used is analyzed, based on a real case study, with the clustered job postings dataset and classified job searchers dataset by using some metrics.Keywords: job postings, job searchers, clustering, genetic algorithms, business intelligence
Procedia PDF Downloads 3293475 Genetic Data of Deceased People: Solving the Gordian Knot
Authors: Inigo de Miguel Beriain
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Genetic data of deceased persons are of great interest for both biomedical research and clinical use. This is due to several reasons. On the one hand, many of our diseases have a genetic component; on the other hand, we share genes with a good part of our biological family. Therefore, it would be possible to improve our response considerably to these pathologies if we could use these data. Unfortunately, at the present moment, the status of data on the deceased is far from being satisfactorily resolved by the EU data protection regulation. Indeed, the General Data Protection Regulation has explicitly excluded these data from the category of personal data. This decision has given rise to a fragmented legal framework on this issue. Consequently, each EU member state offers very different solutions. For instance, Denmark considers the data as personal data of the deceased person for a set period of time while some others, such as Spain, do not consider this data as such, but have introduced some specifically focused regulations on this type of data and their access by relatives. This is an extremely dysfunctional scenario from multiple angles, not least of which is scientific cooperation at the EU level. This contribution attempts to outline a solution to this dilemma through an alternative proposal. Its main hypothesis is that, in reality, health data are, in a sense, a rara avis within data in general because they do not refer to one person but to several. Hence, it is possible to think that all of them can be considered data subjects (although not all of them can exercise the corresponding rights in the same way). When the person from whom the data were obtained dies, the data remain as personal data of his or her biological relatives. Hence, the general regime provided for in the GDPR may apply to them. As these are personal data, we could go back to thinking in terms of a general prohibition of data processing, with the exceptions provided for in Article 9.2 and on the legal bases included in Article 6. This may be complicated in practice, given that, since we are dealing with data that refer to several data subjects, it may be complex to refer to some of these bases, such as consent. Furthermore, there are theoretical arguments that may oppose this hypothesis. In this contribution, it is shown, however, that none of these objections is of sufficient substance to delegitimize the argument exposed. Therefore, the conclusion of this contribution is that we can indeed build a general framework on the processing of personal data of deceased persons in the context of the GDPR. This would constitute a considerable improvement over the current regulatory framework, although it is true that some clarifications will be necessary for its practical application.Keywords: collective data conceptual issues, data from deceased people, genetic data protection issues, GDPR and deceased people
Procedia PDF Downloads 1543474 Genetic Diversity of Exon-20 of the IIS6 of the Voltage Gated Sodium Channel Gene from Pyrethroid Resistant Anopheles Mosquitoes in Sudan Savannah Region of Jigawa State
Authors: Asma'u Mahe, Abdullahi A. Imam, Adamu J. Alhassan, Nasiru Abdullahi, Sadiya A. Bichi, Nura Lawal, Kamaluddeen Babagana
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Malaria is a disease with global health significance. It is caused by parasites and transmitted by Anopheles mosquitoes. Increase in insecticide resistance threatens the disease vector control. The strength of selection pressure acting on a mosquito population in relation to insecticide resistance can be assess by determining the genetic diversity of a fragment spanning exon- 20 of IIS6 of the voltage gated sodium channel (VGSC). Larval samples reared to adulthood were identified and kdr (knock down resistance) profile was determined. The DNA sequences were used to assess the patterns of genetic differentiation by determining the levels of genetic variability between the Anopheles mosquitoes. Genetic differentiation of the Anopheles mosquitoes based on a portion of the voltage gated sodium channel gene was obtained. Polymorphisms were detected; sequence variation and analysis were presented as a phylogenetic tree. Phylogenetic tree of VGSC haplotypes was constructed for samples of the Anopheles mosquitoes using the maximum likelihood method in MEGA 6.0 software. DNA sequences were edited using BioEdit sequence editor. The edited sequences were aligned with reference sequence (Kisumu strain). Analyses were performed as contained in dnaSP 5.10. Results of genetic parameters of polymorphism and haplotype reconstruction were presented in count. Twenty sequences were used for the analysis. Regions selected were 1- 576, invariable (monomorphic) sites were 460 while variable (polymorphic) sites were 5 giving the number of total mutations observed in this study. Mutations obtained from the study were at codon 105: TTC- Phenylalanine replaces TCC- Serine, codon 513: TAG- Termination replaces TTG- Leucine, codon 153, 300 and 553 mutations were non-synonymous. From the constructed phylogenetic tree, some groups were shown to be closer with Exon20Gambiae Kisumu (Reference strain) having some genetic distance, while 5-Exon20Gambiae-F I13.ab1, 18-Exon20Gambiae-F C17.ab1, and 2-Exon20Gambiae-F C13.ab1 clustered together genetically differentiated away from others. Mutations observed in this study can be attributed to the high insecticide resistance profile recorded in the study areas. Haplotype networks of pattern of genetic variability and polymorphism for the fragment of the VGSC sequences of sampled Anopheles mosquitoes revealed low haplotypes for the present study. Haplotypes are set of closely linked DNA variation on X-chromosome. Haplotypes were scaled accordingly to reflect their respective frequencies. Low haplotype number, four VGSC-1014F haplotypes were observed in this study. A positive association was previously established between low haplotype number of VGSC diversity and pyrethroid resistance through kdr mechanism. Significant values at (P < 0.05) of Tajima D and Fu and Li D’ were observed for some of the results indicating possible signature of positive selection on the fragment of VGSC in the study. This is the first report of VGSC-1014F in the study site. Based on the results, the mutation was present in low frequencies. However, the roles played by the observed mutations need further investigation. Mutations, environmental factors among others can affect genetic diversity. The study area has recorded increase in insecticide resistance that can affect vector control in the area. This finding might affect the efforts made against malaria. Sequences were deposited in GenBank for Accession Number.Keywords: anopheles mosquitoes, insecticide resistance, kdr, malaria, voltage gated sodium channel
Procedia PDF Downloads 633473 Analyzing Test Data Generation Techniques Using Evolutionary Algorithms
Authors: Arslan Ellahi, Syed Amjad Hussain
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Software Testing is a vital process in software development life cycle. We can attain the quality of software after passing it through software testing phase. We have tried to find out automatic test data generation techniques that are a key research area of software testing to achieve test automation that can eventually decrease testing time. In this paper, we review some of the approaches presented in the literature which use evolutionary search based algorithms like Genetic Algorithm, Particle Swarm Optimization (PSO), etc. to validate the test data generation process. We also look into the quality of test data generation which increases or decreases the efficiency of testing. We have proposed test data generation techniques for model-based testing. We have worked on tuning and fitness function of PSO algorithm.Keywords: search based, evolutionary algorithm, particle swarm optimization, genetic algorithm, test data generation
Procedia PDF Downloads 1903472 Effectiveness of Public Speaking Extracurricular in Gontor in Raising Leaders of the Advanced Global World's Needs
Authors: Ummi Sholihah Pertiwi Abidin, Khusnul Hajar Nuansari
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Human resource is one of the most important components that can not be separated from communication fields, either in a large community like a mass or narrow ones such as an institution, office, group and even family. Human resource is an asset which is often used as a tool to achieve certain goals. Therefore, development of human resources is essential for improving skills and character of a person especially at the time that has entered globalization era. People are required to be able to compete both in the local and international arena, no matter what. This paper raised topic related to human resource development solution by a unique educational leadership and communication skill improvement through a linguistic approach. Here the authors want to go by form of public speaking method applied in Modern Islamic Boarding School Darussalam Gontor as the extracurricular activity that is using three languages, they are: Indonesian as the mother language or the nation language of the students, Arabic and English as the second language and Gontor’s mean to supply its students to be able to conquer the globalization needs. This implementation produced the establishment of great leaders through confidence growing to speak in public by adjusting the listener context. In linguistic term, it will help enhancing verbal and nonverbal communication skills and so forth in owning a lot of vocabulary.Keywords: public speaking, Gontor, language, leadership
Procedia PDF Downloads 2543471 Investigating the Impact of Enterprise Resource Planning System and Supply Chain Operations on Competitive Advantage and Corporate Performance (Case Study: Mamot Company)
Authors: Mohammad Mahdi Mozaffari, Mehdi Ajalli, Delaram Jafargholi
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The main purpose of this study is to investigate the impact of the system of ERP (Enterprise Resource Planning) and SCM (Supply Chain Management) on the competitive advantage and performance of Mamot Company. The methods for collecting information in this study are library studies and field research. A questionnaire was used to collect the data needed to determine the relationship between the variables of the research. This questionnaire contains 38 questions. The direction of the current research is applied. The statistical population of this study consists of managers and experts who are familiar with the SCM system and ERP. Number of statistical society is 210. The sampling method is simple in this research. The sample size is 136 people. Also, among the distributed questionnaires, Reliability of the Cronbach's Alpha Cronbach's Questionnaire is evaluated and its value is more than 70%. Therefore, it confirms reliability. And formal validity has been used to determine the validity of the questionnaire, and the validity of the questionnaire is confirmed by the fact that the score of the impact is greater than 1.5. In the present study, one variable analysis was used for central indicators, dispersion and deviation from symmetry, and a general picture of the society was obtained. Also, two variables were analyzed to test the hypotheses; measure the correlation coefficient between variables using structural equations, SPSS software was used. Finally, multivariate analysis was used with statistical techniques related to the SPLS structural equations to determine the effects of independent variables on the dependent variables of the research to determine the structural relationships between the variables. The results of the test of research hypotheses indicate that: 1. Supply chain management practices have a positive impact on the competitive advantage of the Mammoth industrial complex. 2. Supply chain management practices have a positive impact on the performance of the Mammoth industrial complex. 3. Planning system Organizational resources have a positive impact on the performance of the Mammoth industrial complex. 4. The system of enterprise resource planning has a positive impact on Mamot's competitive advantage. 5.The competitive advantage has a positive impact on the performance of the Mammoth industrial complex 6.The system of enterprise resource planning Mamot Industrial Complex Supply Chain Management has a positive impact. The above results indicate that the system of enterprise resource planning and supply chain management has an impact on the competitive advantage and corporate performance of Mamot Company.Keywords: enterprise resource planning, supply chain management, competitive advantage, Mamot company performance
Procedia PDF Downloads 983470 Showing Broccoli and Cabbage Genotypes Biodiversity Using Randomly Amplified Polymorphic DNAs (RAPD)
Authors: M. M. A. Abdalla, M. H. Aboul-Nasr, Shimaa H. Mosallam
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Ten RAPD markers were used to detect the genetic variability and relationships among four broccoli and three cabbage genotypes. The results of RAPD analysis showed that all the five primers surveyed detected polymorphism for all broccoli genotypes. A total of 39 DNA bands were amplified by the 5 primers from all genotype and 21 of these fragments showed polymorphism (53.85%). The rest of these bands (46.15%) were common between the four genotypes. On the other hand, all of the 7 primers surveyed, used with cabbage, detected polymorphism among all cabbage genotype. A total of 69 DNA bands were amplified by the 7 primers from all genotypes and 23 of these fragments showed polymorphism (33.33%). The rest of these bands (66.67%) were common between the three genotypes. The investigation suggested that the RAPD approach showed considerable potential for identifying and discriminating broccoli and cabbage genotypes.Keywords: Brassica oleracea, genotypes, genetic markers, varietal identification, DNA polymorphism, RAPD markers
Procedia PDF Downloads 3203469 Optimization of Multi Commodities Consumer Supply Chain: Part 1-Modelling
Authors: Zeinab Haji Abolhasani, Romeo Marian, Lee Luong
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This paper and its companions (Part II, Part III) will concentrate on optimizing a class of supply chain problems known as Multi- Commodities Consumer Supply Chain (MCCSC) problem. MCCSC problem belongs to production-distribution (P-D) planning category. It aims to determine facilities location, consumers’ allocation, and facilities configuration to minimize total cost (CT) of the entire network. These facilities can be manufacturer units (MUs), distribution centres (DCs), and retailers/end-users (REs) but not limited to them. To address this problem, three major tasks should be undertaken. At the first place, a mixed integer non-linear programming (MINP) mathematical model is developed. Then, system’s behaviors under different conditions will be observed using a simulation modeling tool. Finally, the most optimum solution (minimum CT) of the system will be obtained using a multi-objective optimization technique. Due to the large size of the problem, and the uncertainties in finding the most optimum solution, integration of modeling and simulation methodologies is proposed followed by developing new approach known as GASG. It is a genetic algorithm on the basis of granular simulation which is the subject of the methodology of this research. In part II, MCCSC is simulated using discrete-event simulation (DES) device within an integrated environment of SimEvents and Simulink of MATLAB® software package followed by a comprehensive case study to examine the given strategy. Also, the effect of genetic operators on the obtained optimal/near optimal solution by the simulation model will be discussed in part III.Keywords: supply chain, genetic algorithm, optimization, simulation, discrete event system
Procedia PDF Downloads 3163468 Genetic Divergence of Life History Traits in Indian Populations of Drosophila bipectinata
Authors: Manvender Singh
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Temperature is one of the most important climatic parameter for explaining the geographic distribution of ectothermic species. Empirical investigations on norms of the reaction according to developmental temperatures are helpful in analyzing the adapture capacity of a species which may be related to its ecological niche. In the present investigation, we have compared the effects of developmental temperatures on fecundity, hatchability, viability, and duration of development in five natural populations of Drosophila bipectinata along the latitudinal range. The clinal patterns for fecundity, as well as ovariole number, were observed which showed significant positive correlation (r=0.97). Similarly, hatchability and duration of development also revealed a positive correlation with latitude. Hence, suggesting the role of natural selection in maintaining the genetic divergence for life history traits along the north-south transect of the Indian Subcontinent.Keywords: growth temperature, fecundity, hatchability, viability, duration of development, Drosophila
Procedia PDF Downloads 2423467 The Role of Social and Technical Lean Implementation in Improving Operational Performance: Insights from the Pharmaceutical Industry
Authors: Bernasconi Matteo, Grothkopp Mark, Friedli Thomas
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The objective of this paper is to examine the relationships between technical and social lean bundles as well as operational performance in the context of the pharmaceutical industry. We investigate the direct and mediating effects of the lean bundles total productive maintenance (TPM), total quality management (TQM), Just-In-Time (JIT), and human resource management (HRM) on operational performance. Our analysis relies on 113 manufacturing facilities from the St.Gallen OPEX benchmarking database. The results show that HRM has a positive indirect effect on operational performance mediated by the technical lean bundles.Keywords: human resource management, operational performance, pharmaceutical industry, technical lean practices
Procedia PDF Downloads 128