Search results for: genetic enhancement
1741 Effects of Environmental and Genetic Factors on Growth Performance, Fertility Traits and Milk Yield/Composition in Saanen Goats
Authors: Deniz Dincel, Sena Ardicli, Hale Samli, Mustafa Ogan, Faruk Balci
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The aim of the study was to determine the effects of some environmental and genetic factors on growth, fertility traits, milk yield and composition in Saanen goats. For this purpose, the total of 173 Saanen goats and kids were investigated for growth, fertility and milk traits in Marmara Region of Turkey. Fertility parameters (n=70) were evaluated during two years. Milk samples were collected during the lactation and the milk yield/components (n=59) of each goat were calculated. In terms of CSN3 and AGPAT6 gene; the genotypes were defined by PCR-RFLP. Saanen kids (n=86-112) were measured from birth to 6 months of life. The birth, weaning, 60ᵗʰ, 90ᵗʰ, 120ᵗʰ and 180tᵗʰ days of average live weights were calculated. The effects of maternal age on pregnancy rate (p < 0.05), birth rate (p < 0.05), infertility rate (p < 0.05), single born kidding (p < 0.001), twinning rate (p < 0.05), triplet rate (p < 0.05), survival rate of kids until weaning (p < 0.05), number of kids per parturition (p < 0.01) and number of kids per mating (p < 0.01) were found significant. The impacts of year on birth rate (p < 0.05), abortion rate (p < 0.001), single born kidding (p < 0.01), survival rate of kids until weaning (p < 0.01), number of kids per mating (p < 0.01) were found significant for fertility traits. The impacts of lactation length on all milk yield parameters (lactation milk, protein, fat, totally solid, solid not fat, casein and lactose yield) (p < 0.001) were found significant. The effects of age on all milk yield parameters (lactation milk, protein, fat, total solid, solid not fat, casein and lactose yield) (p < 0.001), protein rate (p < 0.05), fat rate (p < 0.05), total solid rate (p < 0.01), solid not fat rate (p < 0.05), casein rate (p < 0.05) and lactation length (p < 0.01), were found significant too. However, the effect of AGPAT6 gene on milk yield and composition was not found significant in Saanen goats. The herd was found monomorphic (FF) for CSN3 gene. The effects of sex on live weights until 90ᵗʰ days of life (birth, weaning and 60ᵗʰ day of average weight) were found significant statistically (p < 0.001). The maternal age affected only birth weight (p < 0,001). The effects month at birth on all of the investigated day [the birth, 120ᵗʰ, 180ᵗʰ days (p < 0.05); the weaning, 60ᵗʰ, 90ᵗʰ days (p < 0,001)] were found significant. The birth type was found significant on the birth (p < 0,001), weaning (p < 0,01), 60ᵗʰ (p < 0,01) and 90ᵗʰ (p < 0,01) days of average live weights. As a result, screening the other regions of CSN3, AGPAT6 gene and also investigation the phenotypic association of them should be useful to clarify the efficiency of target genes. Environmental factors such as maternal age, year, sex and birth type were found significant on some growth, fertility and milk traits in Saanen goats. So consideration of these factors could be used as selection criteria in dairy goat breeding.Keywords: fertility, growth, milk yield, Saanen goats
Procedia PDF Downloads 1661740 Estimating Estimators: An Empirical Comparison of Non-Invasive Analysis Methods
Authors: Yan Torres, Fernanda Simoes, Francisco Petrucci-Fonseca, Freddie-Jeanne Richard
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The non-invasive samples are an alternative of collecting genetic samples directly. Non-invasive samples are collected without the manipulation of the animal (e.g., scats, feathers and hairs). Nevertheless, the use of non-invasive samples has some limitations. The main issue is degraded DNA, leading to poorer extraction efficiency and genotyping. Those errors delayed for some years a widespread use of non-invasive genetic information. Possibilities to limit genotyping errors can be done using analysis methods that can assimilate the errors and singularities of non-invasive samples. Genotype matching and population estimation algorithms can be highlighted as important analysis tools that have been adapted to deal with those errors. Although, this recent development of analysis methods there is still a lack of empirical performance comparison of them. A comparison of methods with dataset different in size and structure can be useful for future studies since non-invasive samples are a powerful tool for getting information specially for endangered and rare populations. To compare the analysis methods, four different datasets used were obtained from the Dryad digital repository were used. Three different matching algorithms (Cervus, Colony and Error Tolerant Likelihood Matching - ETLM) are used for matching genotypes and two different ones for population estimation (Capwire and BayesN). The three matching algorithms showed different patterns of results. The ETLM produced less number of unique individuals and recaptures. A similarity in the matched genotypes between Colony and Cervus was observed. That is not a surprise since the similarity between those methods on the likelihood pairwise and clustering algorithms. The matching of ETLM showed almost no similarity with the genotypes that were matched with the other methods. The different cluster algorithm system and error model of ETLM seems to lead to a more criterious selection, although the processing time and interface friendly of ETLM were the worst between the compared methods. The population estimators performed differently regarding the datasets. There was a consensus between the different estimators only for the one dataset. The BayesN showed higher and lower estimations when compared with Capwire. The BayesN does not consider the total number of recaptures like Capwire only the recapture events. So, this makes the estimator sensitive to data heterogeneity. Heterogeneity in the sense means different capture rates between individuals. In those examples, the tolerance for homogeneity seems to be crucial for BayesN work properly. Both methods are user-friendly and have reasonable processing time. An amplified analysis with simulated genotype data can clarify the sensibility of the algorithms. The present comparison of the matching methods indicates that Colony seems to be more appropriated for general use considering a time/interface/robustness balance. The heterogeneity of the recaptures affected strongly the BayesN estimations, leading to over and underestimations population numbers. Capwire is then advisable to general use since it performs better in a wide range of situations.Keywords: algorithms, genetics, matching, population
Procedia PDF Downloads 1441739 Polymorphism of HMW-GS in Collection of Wheat Genotypes
Authors: M. Chňapek, M. Tomka, R. Peroutková, Z. Gálová
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Processes of plant breeding, testing and licensing of new varieties, patent protection in seed production, relations in trade and protection of copyright are dependent on identification, differentiation and characterization of plant genotypes. Therefore, we focused our research on utilization of wheat storage proteins as genetic markers suitable not only for differentiation of individual genotypes, but also for identification and characterization of their considerable properties. We analyzed a collection of 102 genotypes of bread wheat (Triticum aestivum L.), 41 genotypes of spelt wheat (Triticum spelta L.), and 35 genotypes of durum wheat (Triticum durum Desf.), in this study. Our results show, that genotypes of bread wheat and durum wheat were homogenous and single line, but spelt wheat genotypes were heterogenous. We observed variability of HMW-GS composition according to environmental factors and level of breeding and predict technological quality on the basis of Glu-score calculation.Keywords: genotype identification, HMW-GS, wheat quality, polymorphism
Procedia PDF Downloads 4651738 Unicellular to Multicellular: Some Empirically Parsimoniously Plausible Hypotheses
Authors: Catherine K. Derow
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Possibly a slime mold somehow mutated or already was mutated at progeniture and so stayed as a metazoan when it developed into the fruiting stage and so the slime mold(s) we are evolved and similar to are genetically differ from the slime molds in existence now. This may be why there are genetic links between humans and other metazoa now alive and slime molds now alive but we are now divergent branches of the evolutionary tree compared to the original slime mold, or perhaps slime mold-like organisms, that gave rise to metazoan animalia and perhaps algae and plantae as slime molds were undifferentiated enough in many ways that could allow their descendants to evolve into these three separate phylogenetic categories. Or it may be a slime mold was born or somehow progenated as multicellular, as the particular organism was mutated enough to have say divided in a a 'pseudo-embryonic' stage, and this could have happened for algae, plantae as well as animalia or all the branches may be from the same line but the missing link might be covered in 'phylogenetic sequence comparison noise'.Keywords: metazoan evolution, unicellular bridge to metazoans, evolution, slime mold
Procedia PDF Downloads 2271737 Particle Concentration Distribution under Idling Conditions in a Residential Underground Garage
Authors: Yu Zhao, Shinsuke Kato, Jianing Zhao
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Particles exhausted from cars have an adverse impacts on human health. The study developed a three-dimensional particle dispersion numerical model including particle coagulation to simulate the particle concentration distribution under idling conditions in a residential underground garage. The simulation results demonstrate that particle disperses much faster in the vertical direction than that in horizontal direction. The enhancement of particle dispersion in the vertical direction due to the increase of cars with engine running is much stronger than that in the car exhaust direction. Particle dispersion from each pair of adjacent cars has little influence on each other in the study. Average particle concentration after 120 seconds exhaust is 1.8-4.5 times higher than the initial total particles at ambient environment. Particle pollution in the residential underground garage is severe.Keywords: dispersion, idling conditions, particle concentration, residential underground garage
Procedia PDF Downloads 5511736 Functional Analysis of Variants Implicated in Hearing Loss in a Cohort from Argentina: From Molecular Diagnosis to Pre-Clinical Research
Authors: Paula I. Buonfiglio, Carlos David Bruque, Lucia Salatino, Vanesa Lotersztein, Sebastián Menazzi, Paola Plazas, Ana Belén Elgoyhen, Viviana Dalamón
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Hearing loss (HL) is the most prevalent sensorineural disorder affecting about 10% of the global population, with more than half due to genetic causes. About 1 in 500-1000 newborns present congenital HL. Most of the patients are non-syndromic with an autosomal recessive mode of inheritance. To date, more than 100 genes are related to HL. Therefore, the Whole-exome sequencing (WES) technique has become a cost-effective alternative approach for molecular diagnosis. Nevertheless, new challenges arise from the detection of novel variants, in particular missense changes, which can lead to a spectrum of genotype-to-phenotype correlations, which is not always straightforward. In this work, we aimed to identify the genetic causes of HL in isolated and familial cases by designing a multistep approach to analyze target genes related to hearing impairment. Moreover, we performed in silico and in vivo analyses in order to further study the effect of some of the novel variants identified in the hair cell function using the zebrafish model. A total of 650 patients were studied by Sanger Sequencing and Gap-PCR in GJB2 and GJB6 genes, respectively, diagnosing 15.5% of sporadic cases and 36% of familial ones. Overall, 50 different sequence variants were detected. Fifty of the undiagnosed patients with moderate HL were tested for deletions in STRC gene by Multiplex ligation-dependent probe amplification technique (MLPA), leading to 6% of diagnosis. After this initial screening, 50 families were selected to be analyzed by WES, achieving diagnosis in 44% of them. Half of the identified variants were novel. A missense variant in MYO6 gene detected in a family with postlingual HL was selected to be further analyzed. A protein modeling with AlphaFold2 software was performed, proving its pathogenic effect. In order to functionally validate this novel variant, a knockdown phenotype rescue assay in zebrafish was carried out. Injection of wild-type MYO6 mRNA in embryos rescued the phenotype, whereas using the mutant MYO6 mRNA (carrying c.2782C>A variant) had no effect. These results strongly suggest the deleterious effect of this variant on the mobility of stereocilia in zebrafish neuromasts, and hence on the auditory system. In the present work, we demonstrated that our algorithm is suitable for the sequential multigenic approach to HL in our cohort. These results highlight the importance of a combined strategy in order to identify candidate variants as well as the in silico and in vivo studies to analyze and prove their pathogenicity and accomplish a better understanding of the mechanisms underlying the physiopathology of the hearing impairment.Keywords: diagnosis, genetics, hearing loss, in silico analysis, in vivo analysis, WES, zebrafish
Procedia PDF Downloads 951735 Visible-Light Induced Photocatalytic Degradation of Dye Molecules over ZnWO4-Bi2WO6 Composite
Authors: Sudarat Issarapanacheewin, Katcharin Wetchakun, Sukon Phanichphant, Wiyong Kangwansupamonkon, Natda Wetchakun
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The photocatalytic degradation of Methylene blue (MB) and Rhodamine B (RhB) in the presence of ZnWO4-Bi2WO6 composite under visible light irradiation (λ ≥ 400 nm) were studied in this research. The structural and photophysical properties of ZnWO4-Bi2WO6 composite on the photocatalytic degradation process were investigated. The as-prepared ZnWO4-Bi2WO6 composite photocatalyst exhibits wide absorption in the visible-light region and display superior visible-light-driven photocatalytic activities in degradation of MB and RhB. The enhanced photocatalytic activity was attributed to electron-hole separation with the appropriate band potential and the physicochemical properties of ZnWO4 and Bi2WO6. The main active species for the degradation of organic dyes were investigated to explain the enhancement of photocatalytic performance of ZnWO4-Bi2WO6 composite. The possible photocatalytic degradation pathway of aqueous MB and RhB dyes and charge transfer of ZnWO4-Bi2WO6 composite was proposed.Keywords: composite, dyes, photocatalytic activity, ZnWO4-Bi2WO6
Procedia PDF Downloads 3021734 Urban Agriculture for Sustainable Cities: Using Wastewater and Urban Wetlands as Resource
Authors: Hussnain Mukhtar, Yu-Pin Lin
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This paper deals with the concept of ecologically engineered system for sustainable agriculture production with the view of sustainable cities development. Sustainable cities offer numerous eco-services to its inhabitants, and where, among other issues, wastewater nutrients can be considered to be a valuable resource to be used for a sustainable enhancement of urban agriculture in wetlands. Existing cities can be transferred from being only consumer of food and other agriculture product into important resource conserving and sustainable generators of these products. The review provides the food production capacity through introduction of wastewater into urban wetlands, potential for nutrient recovery and ecological engineering intervention to reduce the risk of food contamination by pathogens. Finally, we discuss the potential nutrients accumulating in our cities, as an important aspect of sustainable urban development.Keywords: ecological engineering, nutrient recovery, pathogens, urban agriculture, wetlands
Procedia PDF Downloads 2571733 Scattering Operator and Spectral Clustering for Ultrasound Images: Application on Deep Venous Thrombi
Authors: Thibaud Berthomier, Ali Mansour, Luc Bressollette, Frédéric Le Roy, Dominique Mottier, Léo Fréchier, Barthélémy Hermenault
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Deep Venous Thrombosis (DVT) occurs when a thrombus is formed within a deep vein (most often in the legs). This disease can be deadly if a part or the whole thrombus reaches the lung and causes a Pulmonary Embolism (PE). This disorder, often asymptomatic, has multifactorial causes: immobilization, surgery, pregnancy, age, cancers, and genetic variations. Our project aims to relate the thrombus epidemiology (origins, patient predispositions, PE) to its structure using ultrasound images. Ultrasonography and elastography were collected using Toshiba Aplio 500 at Brest Hospital. This manuscript compares two classification approaches: spectral clustering and scattering operator. The former is based on the graph and matrix theories while the latter cascades wavelet convolutions with nonlinear modulus and averaging operators.Keywords: deep venous thrombosis, ultrasonography, elastography, scattering operator, wavelet, spectral clustering
Procedia PDF Downloads 4791732 Analysis of Mutation Associated with Male Infertility in Patients and Healthy Males in the Russian Population
Authors: Svetlana Zhikrivetskaya, Nataliya Shirokova, Roman Bikanov, Elizaveta Musatova, Yana Kovaleva, Nataliya Vetrova, Ekaterina Pomerantseva
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Nowadays there is a growing number of couples with conceiving problems due to male or female infertility. Genetic abnormalities are responsible for about 31% of all cases of male infertility. These abnormalities include both chromosomal aberrations or aneuploidies and mutations in certain genes. Chromosomal abnormalities can be easily identified, thus the development of screening panels able to reveal genetic reasons of male infertility on gene level is of current interest. There are approximately 2,000 genes involved in male fertility that is the reason why it is very important to determine the most clinically relevant in certain population and ethnic conditions. An infertility screening panel containing 48 mutations in genes AMHR2, CFTR, DNAI1, HFE, KAL1, TSSK2 and AZF locus which are the most clinically relevant for the European population according to databases NCBI and ClinVar was designed. The aim of this research was to confirm clinic relevance of these mutations in the Russian population. Genotyping was performed in 220 patients with different types of male infertility and in 57 healthy males with normozoospermia. Mutations were identified by end-point PCR with TaqMan probes in microfluidic plates. The frequency of 5 mutations in healthy males and 13 mutations in patients with infertility was revealed and estimated. The frequency of mutation c.187C>G in HFE gene was significantly lower for healthy males (8.8%) compared with patients (17.7%) and the values for the European population according to ExAc database (13.7%) and dbSNP (17.2%). Analysis of c.3454G>C, and c.1545_1546delTA mutations in the CFTR gene revealed increased frequency (0.9 and 0.2%, respectively) in patients with infertility compared with data for the European population (0.04%, respectively (ExAc, European (Non-Finnish) and for the Aggregated Populations (0.002% (ExAc), because there is no data for European population for c.1545_1546delTA mutation. The frequency of del508 mutation (CFTR) in patients (1.59%) were lower comparing with male infertility Europeans (3.34-6.25% depending on nationality) and at the same level with healthy Europeans (1.06%, ExAc, European (Non-Finnish). Analysis of c.845G>A (HFE) mutation resulted in decreased frequency in patients (1.8%) in contrast with the European population data (5.1%, respectively, ExAc, European (Non-Finnish). Moreover, obtained data revealed no statistically significant frequency difference for c.845G>A mutation (HFE) between healthy males in the Russian and the European populations. Allele frequencies of mutations c.350G>A (CFTR), c.193A>T (HFE), c.774C>T, and c.80A>G (gene TSSK2) showed no significantly difference among patients with infertility, healthy males and Europeans. Analysis of AZF locus revealed increased frequency for AZFc microdeletion in patients with male infertility. Thereby, the new data of the allele frequencies in infertility patients in the Russian population was obtained. As well as the frequency differences of mutations associated with male infertility among patients, healthy males in the Russian population and the European one were estimated. The revealed differences showed that for high effectiveness of screening panel detecting genetically caused male infertility it is very important to consider ethnic and population characteristics of patients which will be screened.Keywords: allele frequency, azoospermia, male infertility, mutation, population
Procedia PDF Downloads 3921731 Dynamic Bandwidth Allocation in Fiber-Wireless (FiWi) Networks
Authors: Eman I. Raslan, Haitham S. Hamza, Reda A. El-Khoribi
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Fiber-Wireless (FiWi) networks are a promising candidate for future broadband access networks. These networks combine the optical network as the back end where different passive optical network (PON) technologies are realized and the wireless network as the front end where different wireless technologies are adopted, e.g. LTE, WiMAX, Wi-Fi, and Wireless Mesh Networks (WMNs). The convergence of both optical and wireless technologies requires designing architectures with robust efficient and effective bandwidth allocation schemes. Different bandwidth allocation algorithms have been proposed in FiWi networks aiming to enhance the different segments of FiWi networks including wireless and optical subnetworks. In this survey, we focus on the differentiating between the different bandwidth allocation algorithms according to their enhancement segment of FiWi networks. We classify these techniques into wireless, optical and Hybrid bandwidth allocation techniques.Keywords: fiber-wireless (FiWi), dynamic bandwidth allocation (DBA), passive optical networks (PON), media access control (MAC)
Procedia PDF Downloads 5321730 Enhancement of Lignin Bio-Degradation through Homogenization with Dimethyl Sulfoxide
Authors: Ivana Brzonova, Asina Fnu, Alena Kubatova, Evguenii Kozliak, Yun Ji
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Bio-decomposition of lignin by Basidiomycetes in the presence of dimethyl sulfoxide (DMSO) was investigated. The addition of 3-5 vol% DMSO to lignin aqueous media significantly increased the lignin solubility based on UV absorbance. After being dissolved in DMSO, the thermal evolution profile also changed significantly, yielding more high-MW organic carbon at the expense of recalcitrant elemental carbon. Medical fungi C. versicolor, G. lucidum and P. pulmonarius, were observed to grow on the lignin in media containing up to 15 vol. % DMSO. Further detailed product characterization by chromatographic methods corroborated these observations, as more low-MW phenolic products were observed with DMSO as a co-solvent. These results may be explained by the high solubility of lignin in DMSO; thus, the addition of DMSO to the medium increases the lignin availability for microorganisms. Some of these low-MW phenolic products host a big potential to be used in medicine. No significant inhibition of enzymatic activity (laccase, MnP, LiP) was observed by the addition of up to 3 vol% DMSO.Keywords: basidiomycetes, bio-degradation, dimethyl sulfoxide, lignin
Procedia PDF Downloads 4131729 Two-Photon Ionization of Silver Clusters
Authors: V. Paployan, K. Madoyan, A. Melikyan, H. Minassian
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Resonant two-photon ionization (TPI) is a valuable technique for the study of clusters due to its ultrahigh sensitivity. The comparison of the observed TPI spectra with results of calculations allows to deduce important information on the shape, rotational and vibrational temperatures of the clusters with high accuracy. In this communication we calculate the TPI cross-section for pump-probe scheme in Ag neutral cluster. The pump photon energy is chosen to be close to the surface plasmon (SP) energy of cluster in dielectric media. Since the interband transition energy in Ag exceeds the SP resonance energy, the main contribution into the TPI comes from the latter. The calculations are performed by separating the coordinates of electrons corresponding to the collective oscillations and the individual motion that allows to take into account the resonance contribution of excited SP oscillations. It is shown that the ionization cross section increases by two orders of magnitude if the energy of the pump photon matches the surface plasmon energy in the cluster.Keywords: resonance enhancement, silver clusters, surface plasmon, two-photon ionization
Procedia PDF Downloads 4271728 A Case Study of Bee Algorithm for Ready Mixed Concrete Problem
Authors: Wuthichai Wongthatsanekorn, Nuntana Matheekrieangkrai
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This research proposes Bee Algorithm (BA) to optimize Ready Mixed Concrete (RMC) truck scheduling problem from single batch plant to multiple construction sites. This problem is considered as an NP-hard constrained combinatorial optimization problem. This paper provides the details of the RMC dispatching process and its related constraints. BA was then developed to minimize total waiting time of RMC trucks while satisfying all constraints. The performance of BA is then evaluated on two benchmark problems (3 and 5construction sites) according to previous researchers. The simulation results of BA are compared in term of efficiency and accuracy with Genetic Algorithm (GA) and all problems show that BA approach outperforms GA in term of efficiency and accuracy to obtain optimal solution. Hence, BA approach could be practically implemented to obtain the best schedule.Keywords: bee colony optimization, ready mixed concrete problem, ruck scheduling, multiple construction sites
Procedia PDF Downloads 3851727 Preparation, Characterization and Ionic Conductivity of (1‒x) (CdI2‒Ag2CrO4)‒(x) Al2O3 Composite Solid Electrolytes
Authors: Rafiuddin
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Composite solid electrolyte of the salt and oxide type is an effective approach to improve the ionic conductivity in low and intermediate temperature regions. The conductivity enhancement in the composites occurs via interfaces. Because of their high ionic conduction, composite electrolytes have wide applications in different electrochemical devices such as solid-state batteries, solid oxide fuel cells, and electrochemical cells. In this work, a series of novel (1‒x) (CdI2‒Ag2CrO4)‒xAl2O3 composite solid electrolytes has been synthesized. The prepared materials were characterized by X‒ray diffraction, differential thermal analysis, and AC impedance spectroscopy. The impedance spectra show single semicircle representing the simultaneous contribution of grain and grain boundary. The conductivity increased with the increase of Al2O3 content and shows the maximum conductivity (σ= 0.0012 S cm‒1) for 30% of Al2O3 content at 30 ℃.Keywords: composite solid electrolyte, X-ray diffraction, Impedance spectroscopy, ionic conductivity
Procedia PDF Downloads 4061726 Investigations on Microstructural and Raman Scattering Properties of B2O3 Doped Ba(Ti1-xZrx)O3 Nanoceramics
Authors: Keri̇m Emre Öksüz, Şaduman Şen, Uğur Şen
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0.5 wt. % B2O3–doped Ba (Ti1-xZrx) O3, (x=0-0.4) lead-free nanoceramics were synthesized using the solid-state reaction method by adopting the ball milling technique. The influence of the substitution content on crystallographic structure, phase transition, microstructure and sintering behaviour of BT and BZT ceramics were investigated. XRD analysis at room temperature revealed a structural transformation from tetragonal to rhombohedral with enhancement of ZrO2 content in the barium titanate matrix. The scanning electron microscope (SEM) and energy-dispersive X-ray spectroscopy (EDS) were used to investigate microstructure and surface morphology of the sintered samples. The evolution of the Raman spectra was studied for various compositions, and the spectroscopic signature of the corresponding phase was determined. Scanning Electron Microscope (SEM) observations revealed enhanced microstructural uniformity and retarded grain growth with increasing Zr content.Keywords: BaTiO3, barium-titanate-zirconate, nanoceramics, raman spectroscopy
Procedia PDF Downloads 3431725 The Lived Experience of Pregnant Saudi Women Carrying a Fetus with Structural Abnormalities
Authors: Nasreen Abdulmannan
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Fetal abnormalities are categorized as a structural abnormality, non-structural abnormality, or a combination of both. Fetal structural abnormalities (FSA) include, but are not limited, to Down syndrome, congenital diaphragmatic hernia, and cleft lip and palate. These abnormalities can be detected in the first weeks of pregnancy, which is almost around 9 - 20 weeks gestational. Etiological factors for FSA are unknown; however, transmitted genetic risk can be one of these factors. Consanguineous marriage often referred to as inbreeding, represents a significant risk factor for FSA due to the increased likelihood of deleterious genetic traits shared by both biological parents. In a country such as the Kingdom of Saudi Arabia (KSA), consanguineous marriage is high, which creates a significant risk of children being born with congenital abnormalities. Historically, the practice of consanguinity occurred commonly among European royalty. For example, Great Britain’s Queen Victoria married her German first cousin, Prince Albert of Coburg. Although a distant blood relationship, the United Kingdom’s Queen Elizabeth II married her cousin, Prince Philip of Greece and Denmark—both of them direct descendants of Queen Victoria. In Middle Eastern countries, a high incidence of consanguineous unions still exists, including in the KSA. Previous studies indicated that a significant gap exists in understanding the lived experiences of Saudi women dealing with an FSA-complicated pregnancy. Eleven participants were interviewed using a semi-structured interview format for this qualitative phenomenological study investigating the lived experiences of pregnant Saudi women carrying a child with FSA. This study explored the gaps in current literature regarding the lived experiences of pregnant Saudi women whose pregnancies were complicated by FSA. In addition, the researcher acquired knowledge about the available support and resources as well as the Saudi cultural perspective on FSA. This research explored the lived experiences of pregnant Saudi women utilizing Giorgi’s (2009) approach to data collection and data management. Findings for this study cover five major themes: (1) initial maternal reaction to the FSA diagnosis per ultrasound screening; (2) strengthening of the maternal relationship with God; (3) maternal concern for their child’s future; (4) feeling supported by their loved ones; and (5) lack of healthcare provider support and guidance. Future research in the KSA is needed to explore the network support for these mothers. This study recommended further clinical nursing research, nursing education, clinical practice, and healthcare policy/procedures to provide opportunities for improvement in nursing care and increase awareness in KSA society.Keywords: fetal structural abnormalities, psychological distress, health provider, health care
Procedia PDF Downloads 1561724 The Influence of Carbamazepine on the Activity of CYP3A4 in Patients with Alcoholism
Authors: Mikhail S. Zastrozhin, Valery V. Smirnov, Dmitry A. Sychev, Ludmila M. Savchenko, Evgeny A. Bryun, Mark O. Nechaev
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Cytochrome P-450 isoenzyme 3A4 takes part in the biotransformation of medical drugs. The activity of CYP isoenzymes depends on genetic (polymorphisms of genes which encoded it) and phenotypic factors (a kind of food, a concomitant drug therapy). The aim of the study was to evaluate a carbamazepine effect on the CYP3A4 activity in patients with alcohol addiction. The study included 25 men with alcohol dependence, who received haloperidol during the exacerbation of the addiction. CYP3A4 activity was assessed by urinary 6-beta-hydroxycortisol/cortisol ratios measured by high performance liquid chromatography with mass spectrometry. The study modeled a graph and an equation of the logarithmic regression, that reflects the dependence of CYP3A4 activity on a dose of carbamazepine: y = 5,5 * 9,1 * 10-5 * x2. The study statistically significant demonstrates the effect of carbamazepine on CYP2D6 isozyme activity in patients with alcohol addiction.Keywords: CYP3A4, biotransformation, carbamazepine, alcohol abuse
Procedia PDF Downloads 2791723 IT and Security Experts' Innovation and Investment Front for IT-Entrepreneurship in Pakistan
Authors: Ahmed Mateen, Zhu Qingsheng, Muhammad Awais, Muhammad Yahya Saeed
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This paper targets the rising factor of entrepreneurship innovation, which lacks in Pakistan as compared to the other countries or the regions like China, India, and Malaysia, etc. This is an exploratory and explanatory study. Major aspects have identified as the direction for the policymakers while highlighting the issues in true spirit. IT needs to be considered not only as a technology but also as itself growing as a new community. IT management processes are complex and broad, so generally requires extensive attention to the collective aspects of human variables, capital and technology. In addition, projects tend to have a special set of critical success factors, and if these are processed and given attention, it will improve the chances of successful implementation. This is only possible with state of the art intelligent decision support systems and accumulating IT staff to some extent in decision processes. This paper explores this issue carefully and discusses six issues to observe the implemented strength and possible enhancement.Keywords: security and defense forces, IT-incentives, big IT-players, IT-entrepreneurial-culture
Procedia PDF Downloads 2211722 Integrated Location-Allocation Planning in Multi Product Multi Echelon Single Period Closed Loop Supply Chain Network Design
Authors: Santhosh Srinivasan, Vipul Garhiya, Shahul Hamid Khan
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Environmental performance along with social performance is becoming vital factors for industries to achieve global standards. With a good environmental policy global industries are differentiating them from their competitors. This paper concentrates on multi stage, multi product and multi period manufacturing network. Single objective mathematical models for a total cost for the entire forward supply chain and reverse chain are considered. Here five different problems are considered by varying the number of facilities for illustration. M-MOGA, Shuffle Frog Leaping algorithm (SFLA) and CPLEX are used for finding the optimal solution for the mathematical model.Keywords: closed loop supply chain, genetic algorithm, random search, multi period, green supply chain
Procedia PDF Downloads 3931721 Major Histocompatibility Complex (MHC) Polymorphism and Disease Resistance
Authors: Oya Bulut, Oguzhan Avci, Zafer Bulut, Atilla Simsek
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Livestock breeders have focused on the improvement of production traits with little or no attention for improvement of disease resistance traits. In order to determine the association between the genetic structure of the individual gene loci with possibility of the occurrence and the development of diseases, MHC (major histocompatibility complex) are frequently used. Because of their importance in the immune system, MHC locus is considered as candidate genes for resistance/susceptibility against to different diseases. Major histocompatibility complex (MHC) molecules play a critical role in both innate and adaptive immunity and have been considered candidate molecular markers of an association between polymorphisms and resistance/susceptibility to diseases. The purpose of this study is to give some information about MHC genes become an important area of study in recent years in terms of animal husbandry and determine the relation between MHC genes and resistance/susceptibility to disease.Keywords: MHC, polymorphism, disease, resistance
Procedia PDF Downloads 6321720 Functionalized SPIO Conjugated with Doxorubicin for Tumor Diagnosis and Chemotherapy Enhanced by Applying Magnetic Fields
Authors: Po-Chin Liang, Yung-Chu Chen, Chi-Feng Chiang, Yun-Ping Lin, Wen-Yuan Hsieh, Win-Li Lin
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The aim of this study was to develop super paramagnetic iron oxide (SPIO) nano-particles comprised of a magnetic Fe3O4 core and a shell of aqueous stable self-doped polyethylene glycol (PEG) with a high loading of doxorubicin (SPIO-PEG-D) for tumor theranostics. The in-vivo MRI study showed that there was a stronger T2-weighted signal enhancement for the group under a magnetic field, and hence it indicated that this group had a better accumulation of SPIO-PEG than the group without a magnetic field. In the anticancer evaluation of SPIO-PEG-D, the group with a magnetic field displayed a significantly smaller tumor size than the group without. The overall results show that SPIO-PEG-D nanoparticles have the potential for the application of MRI/monitoring chemotherapy and the therapy can be locally enhanced by applying an external magnetic field.Keywords: super paramagnetic iron oxide nano particles, doxorubicin, chemotherapy, MRI, magnetic fields
Procedia PDF Downloads 6021719 Student Researchers and Industry Partnerships Improve Health Management with Data Driven Decisions
Authors: Carole A. South-Winter
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Research-based learning gives students the opportunity to experience problems that require critical thinking and idea development. The skills they gain in working through these problems 'hands-on,' develop into attributes that benefit their careers in the professional field. The partnerships developed between students and industries give advantages to both sides. The students gain knowledge and skills that will increase their likelihood of success in the future and the industries are given research on new advancements that will give them a competitive advantage in their given field of work. The future of these partnerships is dependent on the success of current programs, enabling the enhancement and improvement of the research efforts. Once more students can complete research, there will be an increase in reliability of the results for each industry. The overall goal is to continue the support for research-based learning and the partnerships formed between students and industries.Keywords: global healthcare, industry partnerships, research-driven decisions, short-term study abroad
Procedia PDF Downloads 1261718 The Relationship between the Epithermal Mineralization, Thermalism, and Basement Faults in the Region of Guelma: NE of Algeria
Authors: B. Merdas
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The Guelma region constitutes a vast geothermal field whose local geothermal gradient is very high. Indeed, various thermal and thermo sources emerging in the region, including some at relatively high temperatures. In the mio Pliocene Hammam N'bails, basin emerges a hot spring that leaves develop a thick series of thermal travertine linked to it. Near the thermal emergences has settled a very special mineralization antimony and zinc and lead. The results of analyses of the thermal waters of the source of Hammam N'bails and the associated travertine, show abnormal values in Pb, Sb, Zn, As, and other metals, demonstrating the genetic link between those waters and mineralization. Hammam N'bails mineralizations by their mineral assembling represented and their association with the hot springs, are very similar to epithermal deposits with precious metals (gold and silver) like Senator mine in Turkey or ‘Carlin-type’ in Nevada (USA).Keywords: hot springs, mineralization; basement faults, Guelma, NE Algeria
Procedia PDF Downloads 4311717 Enhancement of Dissolved Oxygen Concentration during the Electrocoagulation Process Using an Innovative Flow Column: Electrocoagulation Reactor
Authors: Khalid S. Hashim, Andy Shaw, Rafid Alkhaddar
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Dissolved oxygen (DO) plays a key role in the electrocoagulation process (EC) as it oxidizes the heavy metals, ammonia, and cyanide into other forms that can be removed easily from water. Hence, many of the previous investigations used external aerators to provide the required DO inside EC reactors, especially when the water being treated had a low DO (such as leachate and high organic content waters), or when the DO depleted during the EC treatment. Although the external aeration process effectively enhances the DO concentration, it has a significant impact on energy consumption. Thus, the present project aims to fill a part of this gap in the literature by an innovative use of perforated flow columns in the design of an EC reactor (ECR1). In order to investigate the performance of ECR1, water samples with a controlled DO concentration were pumped at different flow rates (110, 220, and 440 ml/min) to the ECR1 for 10 min. The obtained results demonstrated that the ECR1 increased the DO concentration from 5.0 to 9.54, 10.53, and 11.0 mg/L, which is equivalent to 90.8%, 110.6%, and 120% at flow rates of 110, 220, and 440 mL/min respectively.Keywords: flow column, electrocoagulation, dissolved oxygen, water treatment
Procedia PDF Downloads 3411716 Arabic Light Stemmer for Better Search Accuracy
Authors: Sahar Khedr, Dina Sayed, Ayman Hanafy
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Arabic is one of the most ancient and critical languages in the world. It has over than 250 million Arabic native speakers and more than twenty countries having Arabic as one of its official languages. In the past decade, we have witnessed a rapid evolution in smart devices, social network and technology sector which led to the need to provide tools and libraries that properly tackle the Arabic language in different domains. Stemming is one of the most crucial linguistic fundamentals. It is used in many applications especially in information extraction and text mining fields. The motivation behind this work is to enhance the Arabic light stemmer to serve the data mining industry and leverage it in an open source community. The presented implementation works on enhancing the Arabic light stemmer by utilizing and enhancing an algorithm that provides an extension for a new set of rules and patterns accompanied by adjusted procedure. This study has proven a significant enhancement for better search accuracy with an average 10% improvement in comparison with previous works.Keywords: Arabic data mining, Arabic Information extraction, Arabic Light stemmer, Arabic stemmer
Procedia PDF Downloads 3111715 Influence of Strength Training on the Self-Efficacy of Sports Performance: National Collegiate Athletic Association Student-Athletes Experience of a Strength Training Program
Authors: Alfred M. Caronia
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The aim of this pilot study was to explore an NCAA Division 1 female volleyball players’ experience of a strength and conditioning program and the result this has on self-efficacy of sport skill performance. This phenomenological study comprised of 10 college aged participants that have strength training program experience. Data was collected using semi-structured interviews and a reflective journal; the transcribed interviews were analyzed using qualitative content analysis. From the analysis, four themes emerged: performance enhancement, injury prevention, motivational experience, and learning experience. From the players’ perspective, care needs to be taken to explain the purpose of an exercise and the benefit it will have for a play performance. Other factors that play an important role in a strength training program are team motivation, individual goal setting, bonding, and communication with the strength coach, as all these items appear to be fundamentals of coaching.Keywords: self-efficacy, skill performance, sports performance, strength training
Procedia PDF Downloads 931714 Evaluation of Anti-Cancer Activities of Formononetin in Lung Cancer by in vitro Methods
Authors: Vishnu Varthan Vaithiyalingam Jagannathan, Lakshmi Karunanidhi Santhanalakshmi, Srividya Ammayappan Rajam
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Formononetin is the O-Methoxy Flavonol that has many pharmacological activities, which belongs to the flavonoid family. In the current study, activity of this molecule was evaluated in lung cancer cell lines. In general, flavonoids possess certain anticancer mechanism. Being a flavonoid subfamily, this molecule was subjected to evaluate cytotoxicity assay by MTT ((3-(4,5-Dimethylthiazol-2-yl)-2,5-Diphenyltetrazolium Bromide)) stain, mode of cell death assay stained by acridine orange and ethidium bromide and Evaluation of Apoptosis pathway (extrinsic or intrinsic) by Caspase 3/7 stain and Rhodamine-123 stain. From the results, we could able to confirm that the investigatory molecule formononetin has anticancer activity and in future, the study will propose to evaluate the formononetin action against genetic changes occurs during lung cancer progression.Keywords: Caspase 3/7, formononetin, lung cancer, Rhodamine-123
Procedia PDF Downloads 2111713 Pattern Of Polymorphism SLC22A1 Gene In Children With Diabetes Mellitus Type 2
Authors: Elly Usman, S. Dante, Diah Purnamasari
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Type 2 diabetes mellitus ( T2DM ) is a syndrome characterized by a state of increased blood sugar levels due to chronic disorders of insulin secretion by pancreatic beta cells and insulin action or a combination of both. The organic cation transporter 1, encoded by the SLC22A1 gene, responsible for the uptake of the antihyperglycemic drug, metformin, in the hepatocyte. We assessed whether a genetic variation in the SLC22A1 gene was associated with the glucose - lowering effect of metformin. Method case study research design. Samples are children with type 2 diabetes mellitus who meet the inclusion criteria. The results proportions SLC22A1 gene polymorphisms in children with diabetes mellitus type 2 amounted to 52.04 % at position 400T/C, there is one heterozygous and one at position 595T/C Conclusion The presence of SLC22A1 gene polymorphisms in children with diabetes mellitus type 2.Keywords: diabetes Mellitus type 2, metformin, organic cation transporter 1, pharmacogenomics
Procedia PDF Downloads 4291712 DeepOmics: Deep Learning for Understanding Genome Functioning and the Underlying Genetic Causes of Disease
Authors: Vishnu Pratap Singh Kirar, Madhuri Saxena
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Advancement in sequence data generation technologies is churning out voluminous omics data and posing a massive challenge to annotate the biological functional features. With so much data available, the use of machine learning methods and tools to make novel inferences has become obvious. Machine learning methods have been successfully applied to a lot of disciplines, including computational biology and bioinformatics. Researchers in computational biology are interested to develop novel machine learning frameworks to classify the huge amounts of biological data. In this proposal, it plan to employ novel machine learning approaches to aid the understanding of how apparently innocuous mutations (in intergenic DNA and at synonymous sites) cause diseases. We are also interested in discovering novel functional sites in the genome and mutations in which can affect a phenotype of interest.Keywords: genome wide association studies (GWAS), next generation sequencing (NGS), deep learning, omics
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