Search results for: genetic model

Authors: Saule Musabekova

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Achievements of modern science, especially genetics, led to a sharp intensification of the process of proof. Footprints, subjected to destruction-related cause-effect relationships, are sources of evidentiary information on the circumstances it was committed and the persons committed it. Currently, with the overall growth in the number of crimes against sexual inviolability or sexual freedom, and increased the proportion of the crimes where to destroy the traces of the crime perpetrators different detergents are used. A characteristic feature of modern synthetic detergents is the presence of biological additives - enzymes that break down and gradually destroy stains of protein origin. To study the nature of the influence of modern washing powders semen stains were put kinds of fabrics and prepared in advance stained sperm of men of different groups according to ABO system. For research washing machines of known manufacturers of household appliances have been used with different production characteristics, in which the test was performed and the washing of various kinds of fabrics with semen stains. After washing the tissue with spots were tested for the presence of semen stains visually preserved, establishing in them surviving sperm or their elements, we studied the possibilities of the group diagnostics on the system ABO or molecular-genetic identification. The subsequent study of these spots by morphological method showed that 100% detection of morphological sperm cells - sperm is not possible. As a result, in 30% of further studies of these traces gave weakly positive results are obtained with an immunoassay test PSA SEMIQUANT. It is noted that the percentage of positive results obtained in the study of semen traces disposed on natural fiber fabrics is higher than sperm traces disposed on synthetic fabrics. Study traces of semen, confirmed by PSA - test 3% possible to establish a genetic profile of the person and obtain any positive findings of the molecular genetic examination. In other cases, it was not a sufficient amount of material for DNA identification. Results of research and the practical expert study found, in most cases, the conclusions of the identification of sperm traces do not seem possible. This a consequence of exposure to semen traces on the material evidence of biological additives contained in modern detergents and further the influence of other effective methods. Resulting in DNA has undergone irreversible changes (degradation) under the influence of external human factors. Using molecular genetic methods can partially solve the problems arising in the study of unlaundered physical evidence for the disclosure and investigation of crimes.

Keywords: study of sperm, modern detergents, washing powders, forensic medicine

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Authors: Abubakar Maikudi

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Contrastive analysis is the method of analyzing the structure of any two languages with a view to determining the possible differential aspects of their systems irrespective of their genetic affinity or level of development. Contrastive analysis of two languages becomes useful when it is adequately describing the sound structure and grammatical structure of two languages, with comparative statements giving emphasis to the compatible items in the two systems. This research work uses comparative analysis theory to analyze adjective and adjectival phrases in Hausa and Yorùbá languages. The Hausa language belongs to the Chadic family of the Afro-Asiatic phylum, while the Yorùbá language belongs to the Benue-Congo family of the Niger-Congo phylum. The findings of the research clearly demonstrated that there are significant similarities in the adjectival phrase constructions of the two languages, i.e., nominal (Head) and post-nominal (Post-Head) use of the adjective, predicative function of an adjective, use of the reduplicative adjective, use of the comparative and superlative adjective, etc. However, there are dissimilarities in the adjectival phrase of the two languages in gender/number agreement and pre-nominal (Post-Head) use of adjectives.

Keywords: genetic affinity, contrastive analysis, phylum, pre-head, post-head

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Authors: J. Rhodes, V. Cheng, P. Lok

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The aim of this study is to develop a parsimonious model that explains the effect of different stimulus on a tourist’s intention to visit a new destination. The model consists of destination trust and interest as the mediating variables. The model was tested using two different types of stimulus; both studies empirically supported the proposed model. Furthermore, the first study revealed that advertising has a stronger effect than positive online reviews. The second study found that the peripheral route of the elaboration likelihood model has a stronger influence power than the central route in this context.

Keywords: advertising, electronic word-of-mouth, elaboration likelihood model, intention to visit, trust

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Authors: Ahmad Sarfaraz, Raiyad Herwies

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In this paper, a multi-criteria decision making analysis is used to help any organization selects the best KM tool that fits and serves its needs. The AHP model is used based on a previous study to highlight and identify the main criteria and sub-criteria that are incorporated in the selection process. Different KM tools alternatives with different criteria are compared and weighted accurately to be incorporated in the GP model. The main goal is to combine the GP model with the AHP model to ensure that selecting the KM tool considers the resource constraints. Two important issues are discussed in this paper: how different factors could be taken into consideration in forming the AHP model, and how to incorporate the AHP results into the GP model for better results.

Keywords: knowledge management, analytical hierarchy process, goal programming, multi-criteria decision making

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Authors: Agnieszka H. Ludwig-Slomczynska, Michal T. Seweryn, Przemyslaw Kapusta, Ewelina Pitera, Katarzyna Cyganek, Urszula Mantaj, Lucja Dobrucka, Ewa Wender-Ozegowska, Maciej T. Malecki, Pawel Wolkow

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Obesity results from an imbalance between energy intake and its expenditure. Genome-Wide Association Study (GWAS) analyses have led to discovery of only about 100 variants influencing body mass index (BMI), which explain only a small portion of genetic variability. Analysis of gene epistasis gives a chance to discover another part. Since it was shown that interaction and communication between nuclear and mitochondrial genome are indispensable for normal cell function, we have looked for epistatic interactions between the two genomes to find their correlation with BMI. Methods: The analysis was performed on 366 T1DM patients using Illumina Infinium OmniExpressExome-8 chip and followed by imputation on Michigan Imputation Server. Only genes which influence mitochondrial functioning (listed in Human MitoCarta 2.0) were included in the analysis – variants of nuclear origin (MAF > 5%) in 1140 genes and 42 mitochondrial variants (MAF > 1%). Gene expression analysis was performed on GTex data. Association analysis between genetic variants and BMI was performed with the use of Linear Mixed Models as implemented in the package 'GENESIS' in R. Analysis of association between mRNA expression and BMI was performed with the use of linear models and standard significance tests in R. Results: Among variants involved in epistasis between mitochondria and nucleus we have identified one in mitochondrial transcription factor, TFB2M (rs6701836). It interacted with mitochondrial variants localized to MT-RNR1 (p=0.0004, MAF=15%), MT-ND2 (p=0.07, MAF=5%) and MT-ND4 (p=0.01, MAF=1.1%). Analysis of the interaction between nuclear variant rs6701836 (nuc) and rs3021088 localized to MT-ND2 mitochondrial gene (mito) has shown that the combination of the two led to BMI decrease (p=0.024). Each of the variants on its own does not correlate with higher BMI [p(nuc)=0.856, p(mito)=0.116)]. Although rs6701836 is intronic, it influences gene expression in the thyroid (p=0.000037). rs3021088 is a missense variant that leads to alanine to threonine substitution in the MT-ND2 gene which belongs to complex I of the electron transport chain. The analysis of the influence of genetic variants on gene expression has confirmed the trend explained above – the interaction of the two genes leads to BMI decrease (p=0.0308). Each of the mRNAs on its own is associated with higher BMI (p(mito)=0.0244 and p(nuc)=0.0269). Conclusıons: Our results show that nuclear-mitochondrial epistasis can influence BMI in T1DM patients. The correlation between transcription factor expression and mitochondrial genetic variants will be subject to further analysis.

Keywords: body mass index, epistasis, mitochondria, type 1 diabetes

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Authors: Lu Zhao, Nadir Farhi, Yeltsin Valero, Zoi Christoforou, Nadia Haddadou

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In this paper, a long short-term memory (LSTM) neural network model is proposed to replicate simultaneously car-following and lane-changing behaviors in road networks. By combining two kinds of LSTM layers and three input designs of the neural network, six variants of the LSTM model have been created. These models were trained and tested on the NGSIM 101 dataset, and the results were evaluated in terms of longitudinal speed and lateral position, respectively. Then, we compared the LSTM model with a classical car-following model (the intelligent driving model (IDM)) in the part of speed decision. In addition, the LSTM model is compared with a model using classical neural networks. After the comparison, the LSTM model demonstrates higher accuracy than the physical model IDM in terms of car-following behavior and displays better performance with regard to both car-following and lane-changing behavior compared to the classical neural network model.

Keywords: traffic modeling, neural networks, LSTM, car-following, lane-change

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Authors: Dana Gabriková, Martin Mistrík, Jarmila Bernasovská, Iveta Tóthová, Jana Kisková

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The Roma (Gypsies) is a transnational minority with a high degree of consanguineous marriages. Similar to other genetically isolated founder populations, the Roma harbor a number of unique or rare genetic disorders. This paper discusses about a rare form of Charcot-Marie-Tooth disease – type 4G (CMT4G), also called Hereditary Motor and Sensory Neuropathy type Russe, an autosomal recessive disease caused by mutation private to Roma characterized by abnormally increased density of non-myelinated axons. CMT4G was originally found in Bulgarian Roma and in 2009 two putative causative mutations in the HK1 gene were identified. Since then, several cases were reported in Roma families mainly from Bulgaria and Spain. Here we present a Slovak Roma family in which CMT4G was diagnosed on the basis of clinical examination and genetic testing. This case is a further proof of the role of the HK1 gene in pathogenesis of the disease. It confirms that mutation in the HK1 gene is a common cause of autosomal recessive CMT disease in Roma and should be considered as a common part of a diagnostic procedure.

Keywords: gypsies, HK1, HSMN-Russe, rare disease

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Authors: Mafarja Majdi, Salwani Abdullah, Najmeh S. Jaddi

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One of the global combinatorial optimization problems in machine learning is feature selection. It concerned with removing the irrelevant, noisy, and redundant data, along with keeping the original meaning of the original data. Attribute reduction in rough set theory is an important feature selection method. Since attribute reduction is an NP-hard problem, it is necessary to investigate fast and effective approximate algorithms. In this paper, we proposed two feature selection mechanisms based on memetic algorithms (MAs) which combine the genetic algorithm with a fuzzy record to record travel algorithm and a fuzzy controlled great deluge algorithm to identify a good balance between local search and genetic search. In order to verify the proposed approaches, numerical experiments are carried out on thirteen datasets. The results show that the MAs approaches are efficient in solving attribute reduction problems when compared with other meta-heuristic approaches.

Keywords: rough set theory, attribute reduction, fuzzy logic, memetic algorithms, record to record algorithm, great deluge algorithm

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Authors: Coskun Serefoglu

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The study aims to analyse how a traditional sector such as agri-food could be mobilized through regional innovation strategies. A principal component analysis as well as qualitative information, such as in-depth interviews, focus group and surveys, were employed to find the priority sectors. An agri-food model was developed which includes both a linear model and interactive model. The model consists of two main components, one of which is technological integration and the other one is agricultural extension which is based on Land-grant university approach of U.S. which is not a common practice in Turkey.

Keywords: regional innovation strategy, interactive model, agri-food sector, local development, planning, regional development

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Authors: Seraj Makkawi, Abdulaziz A. Alqarni, Himyan Alghaythee, Suzan Y. Alharbi, Anmar Fatani, Reem Adas, Ahmad R. Abuzinadah

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Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a neurodegenerative disease that involves both the upper and lower motor neurons. Familial ALS, including superoxide dismutase 1 (SOD1) mutation, accounts for 5-10% of all cases of ALS. Typically, the symptoms of ALS are purely motor, though coexistent sensory symptoms have been reported in rare cases. In this report, we describe the case of a 47- year-old man who presented with progressive bilateral lower limb weakness and numbness for the last four years. A nerve conduction study (NCS) showed evidence of coexistent axonal sensorimotor polyneuropathy in addition to the typical findings of ALS in needle electromyography. Genetic testing confirmed the diagnosis of familial ALS secondary to the SOD1 genetic mutation. This report highlights that the presence of sensory symptoms should not exclude the possibility of ALS in an appropriate clinical setting.

Keywords: Saudi Arabia, polyneuropathy, SOD1 gene mutation, familial amyotrophic lateral sclerosis, amyotrophic lateral sclerosis

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Authors: Sasiporn Rattanasupha, Settapat Chinviriyasit

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The treatment function adopts a continuous and differentiable function which can describe the effect of delayed treatment when the number of infected individuals increases and the medical condition is limited. In this paper, the SEIR epidemic model with treatment function is studied to investigate the dynamics of the model due to the effect of treatment. It is assumed that the treatment rate is proportional to the number of infective patients. The stability of the model is analyzed. The model is simulated to illustrate the analytical results and to investigate the effects of treatment on the spread of infection.

Keywords: basic reproduction number, local stability, SEIR epidemic model, treatment function

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Authors: Soodabeh Shahid Sales, Azam Rastgar Moghadam, Mehrane Mehramiz, Malihe Entezari, Kazem Anvari, Mohammad Sadegh Khorrami, Saeideh Ahmadi Simab, Ali Moradi, Seyed Mahdi Hassanian, Majid Ghayour-Mobarhan, Gordon A. Ferns, Amir Avan

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Background Esophageal cancer has been reported as the eighth most common cancer universal and the seventh cause of cancer-related death in men .recent studies have revealed that cytochrome P450, family 1, subfamily B, polypeptide 1, which plays a role in metabolizing xenobiotics, is associated with different cancers. Therefore in the present study, we investigated the impact of CYP1B1-rs1056836 on esophagus squamous cell carcinoma (ESCC) patients. Method: 317 subjects, with and without ESCC were recruited. DNA was extracted and genotyped via Real-time PCR-Based Taq Man. Kaplan Meier curves were utilized to assess overall and progression-free survival. To evaluate the relationship between patients clinicopathological data, genotypic frequencies, disease prognosis, and patients survival, Pearson chi-square and t-test were used. Logistic regression was utilized to assess the association between the risk of ESCC and genotypes. Results: the genotypic frequency for GG, GC, and CC are respectively 58.6% , 29.8%, 11.5% in the healthy group and 51.8%, 36.14% and 12% in ESCC group. With respect to the recessive genetic inheritance model, an association between the GG genotype and stage of ESCC were found. Also, statistically significant results were not found for this variation and risk of ESCC. Patients with GG genotype had a decreased risk of nodal metastasis in comparison with patients with CC/CG genotype, although this link was not statistically significant. Conclusion: Our findings illustrated the correlation of CYP1B1-rs1056836 as a potential biomarker for ESCC patients, supporting further studies in larger populations in different ethnic groups. Moreover, further investigations are warranted to evaluate the association of emerging marker with dietary intake and lifestyle.

Keywords: Cytochrome P450, esophagus squamous cell carcinoma, dietary intake, lifestyle

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Authors: Anderson S. Fonseca, Italo F. S. Da Silva, Robert D. A. Santos, Mayara G. Da Silva, Pedro H. C. Vieira, Antonio M. S. Sobrinho, Victor H. B. Lemos, Petterson S. Diniz, Anselmo C. Paiva, Eliana M. G. Monteiro

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In Brazil, the National Electric Energy Agency (ANEEL) establishes that electrical energy companies are responsible for measuring and billing their customers. Among these regulations, it’s defined that a company must bill your customers within 27-33 days. If a relocation or a change of period is required, the consumer must be notified in writing, in advance of a billing period. To make it easier to organize a workday’s measurements, these companies create a reading plan. These plans consist of grouping customers into reading groups, which are visited by an employee responsible for measuring consumption and billing. The creation process of a plan efficiently and optimally is a capacitated clustering problem with constraints related to homogeneity and compactness, that is, the employee’s working load and the geographical position of the consuming unit. This process is a work done manually by several experts who have experience in the geographic formation of the region, which takes a large number of days to complete the final planning, and because it’s human activity, there is no guarantee of finding the best optimization for planning. In this paper, the GBKMeans method presents a technique based on K-Means and genetic algorithms for creating a capacitated cluster that respects the constraints established in an efficient and balanced manner, that minimizes the cost of relocating consumer units and the time required for final planning creation. The results obtained by the presented method are compared with the current planning of a real city, showing an improvement of 54.71% in the standard deviation of working load and 11.97% in the compactness of the groups.

Keywords: capacitated clustering, k-means, genetic algorithm, districting problems

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Authors: Koteswara Rao Pagolu, Raghava Rao Tamanam

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The present study was aimed to find out the prevalence of DD's in Visakhapatnam, one of the north coastal districts of Andhra Pradesh, India during a span of five years. A cross-sectional investigation was held at District early intervention center (DEIC), Visakhapatnam from 2016 to 2020. To identify the pattern and trend of different DD's including seasonal variations, a retrospective analysis of the health center's inpatient database for the past 5 years was done. Male and female children aged 2 months-18 years are included in the study with the prior permission of the concerned medical officer. The screening tool developed by the Ministry of health and family welfare, India, was used for the study. Among 26,423 cases, children with birth defects are 962, 2229 with deficiencies, 7516 with diseases, and 15716 with disabilities were admitted during the study period. From birth defects, congenital deafness occurred in large numbers with 22.66%, and neural tube defect observed in a small number of cases with 0.83% during the period. From the side of deficiencies, severe acute malnutrition has mostly occurred (66.80 %) and a small number of children were affected with goiter (1.70%). Among the diseases, dental carriers (67.97%) are mostly found and these cases were at peak during the years 2016 and 2019. From disabilities, children with vision impairment (20.55%) have mostly approached the center. Over the past 5 years, the admission rate of down's syndrome and congenital deafness cases showed a rising trend up to 2019 and then declined. Hearing impairment, motor delay, and learning disorder showed a steep rise and gradual decline trend, whereas severe anemia, vitamin-D deficiency, otitis media, reactive airway disease, and attention deficit hyperactivity disorder showed a declining trend. However, congenital heart diseases, dental caries, and vision impairment admission rates showed a zigzag pattern over the past 5 years. This center had inadequate diagnostic facilities related to genetic disease management. For advanced confirmation, the cases are referred to a district government hospital or private diagnostic laboratories in the city for genetic tests. Information regarding the overall burden and pattern of admissions in the health center is obtained by the review of DEIC records. Through this study, it is observed that the incidence of birth defects, as well as genetic disease burden, is high in the Visakhapatnam district. Hence there is a need for strengthening of management services for these diseases in this region.

Keywords: child health screening, developmental delays, district early intervention center, genetic disease management, infrastructural facility, Visakhapatnam district

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Authors: L. Abubakar, B. M. Sokoto, I. U. Mohammed, M. S. Na’allah, A. Mohammad, A. N. Garba, T. S. Bubuche

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Onion (Allium cepa var. cepa L.) is the most important species of the Allium group belonging to family Alliaceae and genus Allium. It can be regarded as the single important vegetable species in the world after tomatoes. Despite the similarities, which bring the species together, the genus is a strikingly diverse one, with more than five hundred species, which are perennial and mostly bulbous plants. Out of these, only seven species are in cultivation, and five are the most important species of the cultivated Allium. However, Allium cepa (onion) and Allium sativum (Garlic) are the two major cultivated species grown all over the world of which the onion crop is the most important. North Western Nigeria (Sokoto, Kebbi and Zamfara States) constitute the major onion producing zone in Nigeria, which is primarily during the dry season. However, onion production in the zone is seriously affected by two main factors i.e. diseases and storage losses, in addition to other constraints that limits the cultivation of the crop during the rainy season which include lack of prolonged rainy season to allow for proper maturation of the crop. The major onion disease in this zone is purple blotch caused by a fungus Alternaria porri and currently efforts are on to develop onion hybrids resistant to the disease. Genetic diversity plays an important role in plant breeding either to exploit heterosis or to generate productive recombinants. Assessment of a large number of genotypes for a genetic diversity is the first step in this direction. The objective of this research therefore is to evaluate the genetic potentials of the onion cultivars of North Western Nigeria, with a view of developing new cultivars that address the major production challenges to onion cultivation in North Western, Nigeria. Thirteen onion cultivars were collected during an expedition covering North western Nigeria and Southern part of Niger Republic during 2013, which are areas noted for onion production. The cultivars were evaluated at two locations; Sokoto, in Sokoto State and Jega in Kebbi State all in Nigeria during the 2013/14 onion season (dry season) under irrigation. The objective of the research was to determine the genetic potentials of onion cultivars of north western Nigeria as a basis for breeding purposes. Combined analysis of the results revealed highly significant variation between the cultivars across the locations with respect to plant height, number of leaves/plant, bolting %, bulb height, bulb weight, mean bulb yield and cured bulb weight, with significant variation in terms of bulb diameter. Tasa from Warra Local Government Area of Kebbi State (V4) recorded the greatest mean fresh bulb yield with Jar Albasa (V8) from Illela Local Government Area of Sokoto State recording the least. Similarly Marsa (V5) from Silame Local Government Area recorded the greatest mean cured bulb yield (marketable bulb)with Kiba (V11) from Goronyo Local Government of Sokoto State recording the least. Significant variation was recorded between the locations with respect to all characters, with Sokoto being better in terms of plant height, number of leaves/plant, bolting % and bulb diameter. Jega was better in terms of bulb height, bulb yield and cured bulb weight. Significant variation was therefore observed between the cultivars.

Keywords: evaluation, genetic, onions, North Western Nigeria

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Authors: Yasaman Mohammadi

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Emotion regulation is a complex process that allows individuals to manage and modulate their emotional responses in order to adaptively respond to environmental demands. As individuals age, emotion regulation abilities may decline, leading to an increased vulnerability to mood disorders and other negative health outcomes. Advances in neuroimaging techniques have greatly enhanced our understanding of the neural substrates underlying emotion regulation and age-related changes in these neural systems. Additionally, genetic research has identified several candidate genes that may influence age-related changes in emotion regulation. In this paper, we review recent findings from neuroimaging and genetic research on age-related changes in the neural substrates of emotion regulation, highlighting the mechanisms and consequences of these changes. We also discuss potential interventions, including cognitive and behavioral approaches, that may be effective in mitigating age-related declines in emotion regulation. We propose that a better understanding of the mechanisms underlying age-related changes in emotion regulation may lead to the development of more targeted interventions aimed at promoting healthy emotional functioning in older adults. Overall, this paper highlights the importance of studying age-related changes in emotion regulation and provides a roadmap for future research in this field.

Keywords: emotion regulation, aging, neural substrates, neuroimaging, emotional functioning, healthy aging

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Authors: Rakesh Kumar Mishra, Tarun Kumar Dan

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Lead-Lag based Internal Model Control method is proposed based on Internal Model Control (IMC) strategy. In this paper, we have designed the Lead-Lag based Internal Model Control for binary distillation column for SISO process (considering only bottom product). The transfer function has been taken from Wood and Berry model. We have find the composition control and disturbance rejection using Lead-Lag based IMC and comparing with the response of simple Internal Model Controller.

Keywords: SISO, lead-lag, internal model control, wood and berry, distillation column

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Authors: Bingxi Huang, Yiqing Li, Marek Morzynski, Bernd R. Noack

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We propose a Kriging-based global optimization method for active flow control with multiple actuation parameters. This method is designed to converge quickly and avoid getting trapped into local minima. We follow the model-free explorative gradient method (EGM) to alternate between explorative and exploitive steps. This facilitates a convergence similar to a gradient-based method and the parallel exploration of potentially better minima. In contrast to EGM, both kinds of steps are performed with Kriging surrogate model from the available data. The explorative step maximizes the expected improvement, i.e., favors regions of large uncertainty. The exploitive step identifies the best location of the cost function from the Kriging surrogate model for a subsequent weight-biased linear-gradient descent search method. To verify the effectiveness and robustness of the improved Kriging-based optimization method, we have examined several comparative test problems of varying dimensions with limited evaluation budgets. The results show that the proposed algorithm significantly outperforms some model-free optimization algorithms like genetic algorithm and differential evolution algorithm with a quicker convergence for a given budget. We have also performed direct numerical simulations of the fluidic pinball (N. Deng et al. 2020 J. Fluid Mech.) on three circular cylinders in equilateral-triangular arrangement immersed in an incoming flow at Re=100. The optimal cylinder rotations lead to 44.0% net drag power saving with 85.8% drag reduction and 41.8% actuation power. The optimal results for active flow control based on this configuration have achieved boat-tailing mechanism by employing Coanda forcing and wake stabilization by delaying separation and minimizing the wake region.

Keywords: direct numerical simulations, flow control, kriging, stochastic optimization, wake stabilization

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Authors: H. Namazi, H. T. N. Kuan

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It is known that in humans, the adaptation to a given odor occurs within a quite short span of time (typically one minute) after the odor is presented to the brain. Different models of human olfaction have been developed by scientists but none of these models consider the diffusion phenomenon in olfaction. A novel microscopic model of the human olfaction is presented in this paper. We develop this model by incorporating the transient diffusivity. In fact, the mathematical model is written based on diffusion of the odorant within the mucus layer. By the use of the model developed in this paper, it becomes possible to provide quantification of the objective strength of odor.

Keywords: diffusion, microscopic model, mucus layer, olfaction

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Authors: Yanshuang Zhang, Byungho Jeong

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There exists some time lag between the consumption of inputs and the production of outputs. This time lag effect should be considered in calculating efficiency of decision making units (DMU). Recently, a couple of DEA models were developed for considering time lag effect in efficiency evaluation of research activities. However, these models can’t discriminate efficient DMUs because of the nature of basic DEA model in which efficiency scores are limited to ‘1’. This problem can be resolved a super-efficiency model. However, a super efficiency model sometimes causes infeasibility problem. This paper suggests an output oriented super-efficiency model for efficiency evaluation under the consideration of time lag effect. A case example using a long term research project is given to compare the suggested model with the MpO model

Keywords: DEA, Super-efficiency, Time Lag, research activities

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Authors: Artem Kim, Clara Savary, Christele Dubourg, Wilfrid Carre, Houda Hamdi-Roze, Valerie Dupé, Sylvie Odent, Marie De Tayrac, Veronique David

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Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from the incomplete separation of the two cerebral hemispheres. It is characterized by a wide phenotypic spectrum and a high degree of locus heterogeneity. Genetic defects in 16 genes have already been implicated in HPE, but account for only 30% of cases, suggesting that a large part of genetic factors remains to be discovered. HPE has been recently redefined as a complex multigenic disorder, requiring the joint effect of multiple mutational events in genes belonging to one or several developmental pathways. The onset of HPE may result from accumulation of the effects of multiple rare variants in functionally-related genes, each conferring a moderate increase in the risk of HPE onset. In order to decipher the genetic basis of HPE, unconventional patterns of inheritance involving multiple genetic factors need to be considered. The primary objective of this study was to uncover possible disease causing combinations of multiple rare variants underlying HPE by performing trio-based Whole Exome Sequencing (WES) of familial cases where no molecular diagnosis could be established. 39 families were selected with no fully-penetrant causal mutation in known HPE gene, no chromosomic aberrations/copy number variants and without any implication of environmental factors. As the main challenge was to identify disease-related variants among a large number of nonpathogenic polymorphisms detected by WES classical scheme, a novel variant prioritization approach was established. It combined WES filtering with complementary gene-level approaches: transcriptome-driven (RNA-Seq data) and clinically-driven (public clinical data) strategies. Briefly, a filtering approach was performed to select variants compatible with disease segregation, population frequency and pathogenicity prediction to identify an exhaustive list of rare deleterious variants. The exome search space was then reduced by restricting the analysis to candidate genes identified by either transcriptome-driven strategy (genes sharing highly similar expression patterns with known HPE genes during cerebral development) or clinically-driven strategy (genes associated to phenotypes of interest overlapping with HPE). Deeper analyses of candidate variants were then performed on a family-by-family basis. These included the exploration of clinical information, expression studies, variant characteristics, recurrence of mutated genes and available biological knowledge. A novel bioinformatics pipeline was designed. Applied to the 39 families, this final integrated workflow identified an average of 11 candidate variants per family. Most of candidate variants were inherited from asymptomatic parents suggesting a multigenic inheritance pattern requiring the association of multiple mutational events. The manual analysis highlighted 5 new strong HPE candidate genes showing recurrences in distinct families. Functional validations of these genes are foreseen.

Keywords: complex genetic disorder, holoprosencephaly, multiple rare variants, whole exome sequencing

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Authors: Zainab Magaji Musa, Nordin M. A. Rahman, Julaily Aida Jusoh

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The web services applications for digital reference service (WSDRS) of LIS model is an informal model that claims to reduce the problems of digital reference services in libraries. It uses web services technology to provide efficient way of satisfying users’ needs in the reference section of libraries. The formal WSDRS model consists of the Z specifications of all the informal specifications of the model. This paper discusses the formal validation of the Z specifications of WSDRS model. The authors formally verify and thus validate the properties of the model using Z/EVES theorem prover.

Keywords: validation, verification, formal, theorem prover

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Authors: Matthew C. Best

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Linear Multi-Input Multi-Output (MIMO) dynamic models can be identified, with no a priori knowledge of model structure or order, using a new Generalised Identifying Filter (GIF). Based on an Extended Kalman Filter, the new filter identifies the model iteratively, in a continuous modal canonical form, using only input and output time histories. The filter’s self-propagating state error covariance matrix allows easy determination of convergence and conditioning, and by progressively increasing model order, the best fitting reduced-order model can be identified. The method is shown to be resistant to noise and can easily be extended to identification of smoothly nonlinear systems.

Keywords: system identification, Kalman filter, linear model, MIMO, model order reduction

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Authors: Thiago Ribeiro De Alencar, Jacyro Gramulia Junior, Patricia Teixeira Leite Asano

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The area of the electricity sector that deals with energy needs by the hydropower and thermoelectric in a coordinated way is called Planning Operating Hydrothermal Power Systems. The aim of this area is to find a political operative to provide electrical power to the system in a specified period with minimization of operating cost. This article proposes a computational tool for solving the planning problem. In addition, this article will be introducing a methodology to find new transfer points between reservoirs increasing energy production in hydroelectric power plants cascade systems. The computational tool proposed in this article applies: i) genetic algorithms to optimize the water transfer and operation of hydroelectric plants systems; and ii) Ant Colony algorithm to find the trajectory with the least energy pumping for the construction of pipes transfer between reservoirs considering the topography of the region. The computational tool has a database consisting of 35 hydropower plants and 41 reservoirs, which are part of the southeastern Brazilian system, which has been implemented in an individualized way.

Keywords: ant colony system, genetic algorithms, hydroelectric, hydrothermal systems, optimization, water transfer between rivers

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Authors: Tejush Badal, Sanaa Alwidian

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Class diagrams are useful tools within the Unified Modelling Language (UML) to model and visualize the relationships between, and properties of objects within a system. As a system evolves over time and space (e.g., products), a series of models with several commonalities and variabilities create what is known as a model family. In circumstances where there are several versions of a model, examining each model individually, becomes expensive in terms of computation resources. To avoid performing redundant operations, this paper proposes an approach for representing a family of class diagrams into Union Models to represent model families using a single generic model. The paper aims to analyze and reason about a family of class diagrams using union models as opposed to individual analysis of each member model in the family. The union algorithm provides a holistic view of the model family, where the latter cannot be otherwise obtained from an individual analysis approach, this in turn, enhances the analysis performed in terms of speeding up the time needed to analyze a family of models together as opposed to analyzing individual models, one model at a time.

Keywords: analysis, class diagram, model family, unified modeling language, union model

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Authors: Boutheina Ben Abdelmoumen Mardassi, Salim Chibani, Safa Boujemaa, Amaury Vaysse, Julien Guglielmini, Elhem Yacoub

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Background and aim: Mycoplasma hominis (MH) is a pathogenic bacterium belonging to the Mollicutes class. It causes a wide range of gynecological infections and infertility among adults. Recently, we have explored for the first time the phylodistribution of Tunisian M. hominis clinical strains using an expanded MLST. We have demonstrated their distinction into two pure lineages, which each corresponding to a specific pathotype: genital infections and infertility. The aim of this project is to gain further insight into the evolutionary dynamics and the specific genetic factors that distinguish MH pathotypes Methods: Whole genome sequencing of Mycoplasma hominis clinical strains was performed using illumina Miseq. Denovo assembly was performed using a publicly available in-house pipeline. We used prokka to annotate the genomes, panaroo to generate the gene presence matrix and Jolytree to establish the phylogenetic tree. We used treeWAS to identify genetic loci associated with the pathothype of interest from the presence matrix and phylogenetic tree. Results: Our results revealed a clear categorization of the 62 MH clinical strains into two distinct genetic lineages, with each corresponding to a specific pathotype.; gynecological infections and infertility[AV1] . Genome annotation showed that GC content is ranging between 26 and 27%, which is a known characteristic of Mycoplasma genome. Housekeeping genes belonging to the core genome are highly conserved among our strains. TreeWas identified 4 virulence genes associated with the pathotype gynecological infection. encoding for asparagine--tRNA ligase, restriction endonuclease subunit S, Eco47II restriction endonuclease, and transcription regulator XRE (involved in tolerance to oxidative stress). Five genes have been identified that have a statistical association with infertility, tow lipoprotein, one hypothetical protein, a glycosyl transferase involved in capsule synthesis, and pyruvate kinase involved in biofilm formation. All strains harbored an efflux pomp that belongs to the family of multidrug resistance ABC transporter, which confers resistance to a wide range of antibiotics. Indeed many adhesion factors and lipoproteins (p120, p120', p60, p80, Vaa) have been checked and confirmed in our strains with a relatively 99 % to 96 % conserved domain and hypervariable domain that represent 1 to 4 % of the reference sequence extracted from gene bank. Conclusion: In summary, this study led to the identification of specific genetic loci associated with distinct pathotypes in M hominis.

Keywords: mycoplasma hominis, infertility, gynecological infections, virulence genes, antibiotic resistance

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Authors: Aniket Kumar, Jacob Peedicayil

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Major depressive disorder (MDD) is a common and important psychiatric disorder. Several clinical features of MDD suggest an epigenetic basis for its pathogenesis. Since epigenetics (heritable changes in gene expression not involving changes in DNA sequence) may underlie the pathogenesis of MDD, epigenetic drugs such as DNA methyltransferase inhibitors (DNMTi) and histone deactylase inhibitors (HDACi) may be useful for treating MDD. The available literature indexed in Pubmed on preclinical drug trials of epigenetic drugs for the treatment of MDD was investigated. The search terms we used were ‘depression’ or ‘depressive’ and ‘HDACi’ or ‘DNMTi’. Among epigenetic drugs, it was found that there were 3 preclinical trials using HDACi and 3 using DNMTi for the treatment of MDD. All the trials were conducted on rodents (mice or rats). The animal models of depression that were used were: learned helplessness-induced animal model, forced swim test, open field test, and the tail suspension test. One study used a genetic rat model of depression (the Flinders Sensitive Line). The HDACi that were tested were: sodium butyrate, compound 60 (Cpd-60), and valproic acid. The DNMTi that were tested were: 5-azacytidine and decitabine. Among the three preclinical trials using HDACi, all showed an antidepressant effect in animal models of depression. Among the 3 preclinical trials using DNMTi also, all showed an antidepressant effect in animal models of depression. Thus, epigenetic drugs, namely, HDACi and DNMTi, may prove to be useful in the treatment of MDD and merit further investigation for the treatment of this disorder.

Keywords: DNA methylation, drug discovery, epigenetics, major depressive disorder

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Authors: Auwal Ibrahim Magashi, Lawan Dan Larai Fagwalawa, Muhammad Bello Ibrahim

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A research was conducted to study genetic variability of some quantitative traits in varieties of cowpea (Vigna unguiculata L. [Walp]) under water stressed from Zaria, Nigeria. Seeds of seven varieties of cowpea (Sampea 1, Sampea 2, IAR1074, Sampea 7, Sampea 8, Sampea 10 and Sampea 12) collected from Institute for Agricultural Research (IAR), Samaru, Zaria were screened for water stressed tolerance. The seeds were then sown in poly bags containing sandy-loam arranged in Completely Randomized Design with three replications for quantitative traits evaluation. The nutritional composition of the seeds obtained from the water stress tolerant varieties of cowpea were analyzed. The result obtained revealed highly significant difference (P ≤ 0.01) in the effects of water stress on the number of wilted and dead plants at 40 days after sowing (DAS) and significant (P ≤ 0.05) 34 DAS. However, sampea 10 has the highest mean performance in terms of number of wilted plants at 34 DAS while sampea 2 and IAR 1074 has the lowest mean performance. However, sampea 7 was found to have the highest mean performance for the number of wilted plants at 40 DAS and sampea 2 is lowest. The result for quantitative traits study indicated highly significant difference (P ≤ 0.01) in the plant height, number of days to 50% flowering, number of days to maturity, number of pods per plant, pod length, number of seeds per plant and 100 seed weight; and significant (P ≤ 0.05) at seedling height and number of branches per plant. Similarly, IAR1074 was found to have high performance in terms of most of the quantitative traits under study. However, sampea 8 has the highest mean performance at nutritional level. It was therefore concluded that, all the seven cowpea genotypes were water stress tolerant and produced considerable yield that contained significant nutrients. It was recommended that IAR1074 should be grown for yield while sampea 8 should be grown for protein supplements.

Keywords: cowpea, genetic variability, quantitative traits, water stress

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Authors: Sirilak Kongkaew, Pathumwadee Yodmanee, Nopporn Kaiyawet, Arthitaya Meeprasert, Thanyada Rungrotmongkol, Toshikatsu Kaburaki, Hiroshi Noguchi, Fujio Takeuch, Nawee Kungwan, Supot Hannongbua

Abstract:

Behçet’s disease (BD) is a genetic autoimmune expressed by multisystemic inflammatory disorder mostly occurred at the skin, joints, gastrointestinal tract, and genitalia, including ocular, oral, genital, and central nervous systems. Most BD patients in Japan and Korea were strongly indicated by the genetic factor namely HLA-B*51 (especially, HLA-B*51:01) marker in HMC class I, while HLA-A*26:01 allele has been detected from the BD patients in Greek, Japan, and Taiwan. To understand the selective binding of the MICA-TM peptide towards the HLAs associated with BD, the molecular dynamics simulations were applied on the four HLA alleles (B*51:01, B*35:01, A*26:01, and A*11:01) in complex with such peptide. As a result, the key residues in the binding groove of HLA protein which play an important role in the MICA-TM peptide binding and stabilization were revealed. The Van der Waals force was found to be the main protein-protein interaction. Based on the binding free energy prediction by MM/PBSA method, the MICA-TM peptide interacted stronger to the HLA alleles associated to BD in the identical class by 7-12 kcal/mol. The obtained results from the present study could help to differentiate the HLA alleles and explain a source of Behçet’s disease.

Keywords: Behçet’s disease, MD simulations, HMC class I, autoimmune

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Authors: D. Thawinkarn, S. Wongbutlee

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The Social Change Leadership model is strongly aligned with administration’s mission. This research aims to examine the elements of social change leadership, build and develop leadership for social change, and evaluate effectiveness of leadership development model for social change. The research operation has 3 phases: model studies by in-depth interviews and survey research; drafting and creating model which verified by the experts; and trial of model in schools. The results showed that administrators and teachers have the elements of leadership for social change in moderate level. These elements are ranged descending from consciousness of self, common purpose, congruence, collaboration, commitment, citizenship, and controversy with civility. Model of leadership for social change is included the principles, objectives, content, process. Workshop process: Results show that the model of leadership development for social change in administrators and teachers leads to higher score in leadership evaluation prior to administering the operation.

Keywords: leadership, social change model, organization, administrators

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