Search results for: complex genetic disorder

Authors: Faheema Khan

Abstract:

In order to investigate the influence of genetic background on salt tolerance in Soybean (Glycine max) ten soybean genotypes released/notified in India were selected. (Pusa-20, Pusa-40, Pusa-37, Pusa-16, Pusa-24, Pusa-22, BRAGG, PK-416, PK-1042, and DS-9712). The 10-day-old seedlings were subjected to 0, 25, 50, 75, 100, 125, and 150 mM NaCl for 15 days. Plant growth, leaf osmotic adjustment, and RAPD analysis were studied. In comparison to control plants, the plant growth in all genotypes was decreased by salt stress, respectively. Salt stress decreased leaf osmotic potential in all genotypes however the maximum reduction was observed in genotype Pusa-24 followed by PK-416 and Pusa-20. The difference in osmotic adjustment between all the genotypes was correlated with the concentrations of ion examined such as Na+ and the leaf proline concentration. These results suggest that the genotypic variation for salt tolerance can be partially accounted for by plant physiological measures. The genetic polymorphisms between soybean genotypes differing in response to salt stress were characterized using 25 RAPD primers. These primers generated a total of 1640 amplification products, among which 1615 were found to be polymorphic. A very high degree of polymorphism (98.30%) was observed. UPGMA cluster analysis of genetic similarity indices grouped all the genotypes into two major clusters. Intra-clustering within the two clusters precisely grouped the 10 genotypes in sub-cluster as expected from their physiological findings. Our results show that RAPD technique is a sensitive, precise and efficient tool for genomic analysis in soybean genotypes.

Keywords: glycine max, NaCl, RAPD, proteomics

Procedia PDF Downloads 585

Authors: Yusuf Seedat

Abstract:

The necessity to understand global financial markets has increased following the unfortunate spread of the recent financial crisis around the world. Financial markets are considered to be complex systems consisting of highly volatile move-ments whose indexes fluctuate without any clear pattern. Analytic methods of stock prices have been proposed in which financial markets are modeled using common network analysis tools and methods. It has been found that two key components of social network analysis are relevant to modeling financial markets, allowing us to forecast accurate predictions of stock prices within the financial market. Financial markets have a number of interacting components, leading to complex behavioral patterns. This paper describes a social network approach to analyzing financial markets as a viable approach to studying the way complex stock markets function. We also look at how social network analysis techniques and metrics are used to gauge an understanding of the evolution of financial markets as well as how community detection can be used to qualify and quantify in-fluence within a network.

Keywords: network analysis, social networks, financial markets, stocks, nodes, edges, complex networks

Procedia PDF Downloads 192

Authors: Afsaneh Mohammadnejad, Marianne Nygaard, Jan Baumbach, Shuxia Li, Weilong Li, Jesper Lund, Jacob v. B. Hjelmborg, Lene Christensen, Qihua Tan

Abstract:

Cognitive impairment in the elderly is a key issue affecting the quality of life. Despite a strong genetic background in cognition, only a limited number of single nucleotide polymorphisms (SNPs) have been found. These explain a small proportion of the genetic component of cognitive function, thus leaving a large proportion unaccounted for. We hypothesize that one reason for this missing heritability is the misspecified modeling in data analysis concerning phenotype distribution as well as the relationship between SNP dosage and the phenotype of interest. In an attempt to overcome these issues, we introduced a model-free method based on the generalized correlation coefficient (GCC) in a genome-wide association study (GWAS) of cognitive function in twin samples and compared its performance with two popular linear regression models. The GCC-based GWAS identified two genome-wide significant (P-value < 5e-8) SNPs; rs2904650 near ZDHHC2 on chromosome 8 and rs111256489 near CD6 on chromosome 11. The kinship model also detected two genome-wide significant SNPs, rs112169253 on chromosome 4 and rs17417920 on chromosome 7, whereas no genome-wide significant SNPs were found by the linear mixed model (LME). Compared to the linear models, more meaningful biological pathways like GABA receptor activation, ion channel transport, neuroactive ligand-receptor interaction, and the renin-angiotensin system were found to be enriched by SNPs from GCC. The GCC model outperformed the linear regression models by identifying more genome-wide significant genetic variants and more meaningful biological pathways related to cognitive function. Moreover, GCC-based GWAS was robust in handling genetically related twin samples, which is an important feature in handling genetic confounding in association studies.

Keywords: cognition, generalized correlation coefficient, GWAS, twins

Procedia PDF Downloads 126

Authors: Feng Ji Mervin Goh, Edmund Chee Jian Pua, Stuart Alexander Cook

Abstract:

Dilated cardiomyopathy (DCM) is a common cause of heart failure. Genetic mutations account for 50% of DCM cases with TTN mutations being the most common, accounting for up to 25% of DCM cases. However, the genetic architecture underlying Asian DCM patients is unknown. We evaluated 68 patients (female= 17) with DCM who underwent follow-up at the National Heart Centre, Singapore from 2013 through 2014. Clinical data were obtained and analyzed retrospectively. Genomic DNA was subjected to next-generation targeted sequencing. Nextera Rapid Capture Enrichment was used to capture the exons of a panel of 169 cardiac genes. DNA libraries were sequenced as paired-end 150-bp reads on Illumina MiSeq. Raw sequence reads were processed and analysed using standard bioinformatics techniques. The average age of onset of DCM was 46.1±10.21 years old. The average left ventricular ejection fraction (LVEF), left ventricular diastolic internal diameter (LVIDd), left ventricular systolic internal diameter (LVIDs) were 26.1±11.2%, 6.20±0.83cm, and 5.23±0.92cm respectively. The frequencies of mutations in major DCM-associated genes were as follows TTN (5.88% vs published frequency of 20%), LMNA (4.41% vs 6%), MYH7 (5.88% vs 4%), MYH6 (5.88% vs 4%), and SCN5a (4.41% vs 3%). The average callability at 10 times coverage of each major gene were: TTN (99.7%), LMNA (87.1%), MYH7 (94.8%), MYH6 (95.5%), and SCN5a (94.3%). In conclusion, TTN mutations are not common in Singaporean DCM patients. The frequencies of other major DCM-associated genes are comparable to frequencies published in the current literature.

Keywords: heart failure, dilated cardiomyopathy, genetics, next-generation sequencing

Procedia PDF Downloads 243

Authors: Mustafa Malki, Ewan R. Pearson

Abstract:

Tools utilized by health care practitioners to flag potential adverse drug reactions secondary to drug-drug interactions ignore individual genetic variation, which has the potential to markedly alter the severity of these interactions. To our best knowledge, there have been limited published studies on the impact of genetic variation on drug-drug interactions. Therefore, our aim in this project is the discovery of previously unrecognized, clinically important drug-drug-gene interactions (DDGIs) within the list of most commonly used drug combinations in the UK. The UKBB database was utilized to identify the top most frequently prescribed drug combinations in the UK with at least one route of interaction (over than 200 combinations were identified). We have recognised 37 common and unique interacting genes considering all of our drug combinations. Out of around 600 potential genetic variants found in these 37 genes, 100 variants have met the selection criteria (common variant with minor allele frequency ≥ 5%, independence, and has passed HWE test). The association between these variants and the use of each of our top drug combinations has been tested with a case-control analysis under the log-additive model. As the data is cross-sectional, drug intolerance has been identified from the genotype distribution as presented by the lower percentage of patients carrying the risky allele and on the drug combination compared to those free of these risk factors and vice versa with drug tolerance. In GoDARTs database, the same list of common drug combinations identified by the UKBB was utilized here with the same list of candidate genetic variants but with the addition of 14 new SNPs so that we have a total of 114 variants which have met the selection criteria in GoDARTs. From the list of the top 200 drug combinations, we have selected 28 combinations where the two drugs in each combination are known to be used chronically. For each of our 28 combinations, three drug response phenotypes have been identified (drug stop/switch, dose decrease, or dose increase of any of the two drugs during their interaction). The association between each of the three phenotypes belonging to each of our 28 drug combinations has been tested against our 114 candidate genetic variants. The results show replication of four findings between both databases : (1) Omeprazole +Amitriptyline +rs2246709 (A > G) variant in CYP3A4 gene (p-values and ORs with the UKBB and GoDARTs respectively = 0.048,0.037,0.92,and 0.52 (dose increase phenotype)) (2) Simvastatin + Ranitidine + rs9332197 (T > C) variant in CYP2C9 gene (0.024,0.032,0.81, and 5.75 (drug stop/switch phenotype)) (3) Atorvastatin + Doxazosin + rs9282564 (T > C) variant in ABCB1 gene (0.0015,0.0095,1.58,and 3.14 (drug stop/switch phenotype)) (4) Simvastatin + Nifedipine + rs2257401 (C > G) variant in CYP3A7 gene (0.025,0.019,0.77,and 0.30 (drug stop/switch phenotype)). In addition, some other non-replicated, but interesting, significant findings were detected. Our work also provides a great source of information for researchers interested in DD, DG, or DDG interactions studies as it has highlighted the top common drug combinations in the UK with recognizing 114 significant genetic variants related to drugs' pharmacokinetic.

Keywords: adverse drug reactions, common drug combinations, drug-drug-gene interactions, pharmacogenomics

Procedia PDF Downloads 163

Authors: E. A. Mlybari, M. S. Elbisy, A. H. Alshahri, O. M. Albarakati

Abstract:

Sea level rise threatens to increase the impact of future storms and hurricanes on coastal communities. Accurate sea level change prediction and supplement is an important task in determining constructions and human activities in coastal and oceanic areas. In this study, support vector machines (SVM) is proposed to predict daily tidal levels along the Jeddah Coast, Saudi Arabia. The optimal parameter values of kernel function are determined using a genetic algorithm. The SVM results are compared with the field data and with back propagation (BP). Among the models, the SVM is superior to BPNN and has better generalization performance.

Keywords: tides, prediction, support vector machines, genetic algorithm, back-propagation neural network, risk, hazards

Procedia PDF Downloads 468

Authors: Saeid Jalilzadeh

Abstract:

PID controllers are widely used to control the industrial plants because of their robustness and simple structures. Tuning of the controller's parameters to get a desired response is difficult and time consuming. With the development of computer technology and artificial intelligence in automatic control field, all kinds of parameters tuning methods of PID controller have emerged in endlessly, which bring much energy for the study of PID controller, but many advanced tuning methods behave not so perfect as to be expected. Honey Bee algorithm (HBA) and genetic algorithm (GA) are extensively used for real parameter optimization in diverse fields of study. This paper describes an application of HBA and GA to the problem of designing a PID controller whose parameters comprise proportionality constant, integral constant and derivative constant. Presence of three parameters to optimize makes the task of designing a PID controller more challenging than conventional P, PI, and PD controllers design. The suitability of the proposed approach has been demonstrated through computer simulation using MATLAB/SIMULINK.

Keywords: controller, GA, optimization, PID, PSO

Procedia PDF Downloads 544

Authors: Sandra Smieszek, Jonathan Haines

Abstract:

Introduction: Numerous research efforts have focused on searching for ‘longevity genes’. However, attempting to decipher the genetic component of the longevous phenotype have resulted in limited success and the mechanisms governing longevity remain to be explained. We conducted a genome-wide homozygosity analysis (GWHA) of the founder population of the Amish community in central Ohio. While genome-wide association studies using unrelated individuals have revealed many interesting longevity associated variants, these variants are typically of small effect and cannot explain the observed patterns of heritability for this complex trait. The Amish provide a large cohort of extended kinships allowing for in depth analysis via family-based approach excellent population due to its. Heritability of longevity increases with age with significant genetic contribution being seen in individuals living beyond 60 years of age. In our present analysis we show that the heritability of longevity is estimated to be increasing with age particularly on the paternal side. Methods: The present analysis integrated both phenotypic and genotypic data and led to the discovery of a series of variants, distinct for stratified populations across ages and distinct for paternal and maternal cohorts. Specifically 5437 subjects were analyzed and a subset of 893 successfully genotyped individuals was used to assess CHIP heritability. We have conducted the homozygosity analysis to examine if homozygosity is associated with increased risk of living beyond 90. We analyzed AMISH cohort genotyped for 614,957 SNPs. Results: We delineated 10 significant regions of homozygosity (ROH) specific for the age group of interest (>90). Of particular interest was ROH on chromosome 13, P < 0.0001. The lead SNPs rs7318486 and rs9645914 point to COL4A2 and our lead SNP. COL25A1 encodes one of the six subunits of type IV collagen, the C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities. The second region of interest points to IRS2. Furthermore we built a classifier using the obtained SNPs from the significant ROH region with 0.945 AUC giving ability to discriminate between those living beyond to 90 years of age and beyond. Conclusion: In conclusion our results suggest that a history of longevity does indeed contribute to increasing the odds of individual longevity. Preliminary results are consistent with conjecture that heritability of longevity is substantial when we start looking at oldest fifth and smaller percentiles of survival specifically in males. We will validate all the candidate variants in independent cohorts of centenarians, to test whether they are robustly associated with human longevity. The identified regions of interest via ROH analysis could be of profound importance for the understanding of genetic underpinnings of longevity.

Keywords: regions of homozygosity, longevity, SNP, Amish

Procedia PDF Downloads 235

Authors: Soowon Park, Min-Ji Kim, Jun-Young Lee

Abstract:

Motivation: The stigma of mental illness has been studied in many disciplines, including social psychology, counseling psychology, sociology, psychiatry, public health care, and related areas, because individuals labeled as ‘mentally ill’ are often deprived of their rights and their life opportunities. To understand the factors that deepen the stigma of mental illness, it is important to understand the influencing factors of the stigma. Problem statement: Depression is a common disorder in adults, but the incidence of help-seeking is low. Researchers have believed that this poor help-seeking behavior is related to the stigma of mental illness, which results from low mental health literacy. However, it is uncertain that increasing mental health literacy decreases mental health stigmatization. Furthermore, even though decreasing stigmatization is important, the stigma of mental illness is still a stable and long-lasting phenomenon. Thus, factors other than knowledge about mental disorders have the power to maintain the stigma. Investigating the influencing factors that facilitate the stigma of psychiatric disease could help lower the social stigmatization. Approach: Face-to-face interviews were conducted with a multi-clustering sample. A total of 700 Korean participants (38% male), ranging in age from 18 to 78 (M(SD)age= 48.5(15.7)) answered demographical questions, Korean version of Link’s Perceived Devaluation and Discrimination (PDD) scale for the assessment of social stigmatization against depression, and the Korean version of the WHO-Composite International Diagnostic Interview for the assessment of mental disorders. Multiple-regression was conducted to find the predicting factors of social stigmatization against depression. Ages, sex, years of education, income, living location, and experience of mental illness were used as the predictors. Results: Predictors accounted for 14% of the variance in the stigma of depressive disorders (F(6, 693) = 20.27, p < .001). Among those, only age, years of education, and experience of mental illness significantly predicted social stigmatization against depression. The standardized regression coefficient of age had a negative association with stigmatization (β = -.20, p < .001), but years of education (β = .20, p < .001) and experience of mental illness (β = .08, p < .05) positively predicted depression stigmatization. Conclusions: The present study clearly demonstrates the association between personal factors and depressive disorder stigmatization. Younger age, more education, and self-stigma appeared to increase the stigmatization. Young, highly educated, and mentally ill people tend to reject patients with depressive disorder as friends, teachers, or babysitters; they also tend to think that those patients have lower intelligence and abilities. These results suggest the possibility that people from a high social class, or highly educated people, who have the power to make decisions, help maintain the social stigma against mental illness patients. To increase the awareness that people from high social classes have more stigmatization against depressive disorders will help decrease the biased attitudes against mentally ill patients.

Keywords: depressive disorder stigmatization, age, education, self-stigma

Procedia PDF Downloads 406

Authors: Zoran Masoničić, Siniša Dragutinović, Ivan Lazović

Abstract:

In the management and organization of the road transport of dangerous goods, in addition to the existing influential criteria and restrictions that apply to the road transport in general, it is necessary to include an additional criteria related to the safety of people and the environment, considering the danger that comes from the substances being transported. In that manner, the decision making process becomes very complex and rather challenging task that is inherent to the application of complex numerical multi-criteria analysis methods. In this paper some initial results of application of complex analysis method in decision making process are presented. Additionally, the method for minimization or even complete elimination of subjective element in the decision making process is provided. The results obtained can be used in order to point the direction towards some measures have to be applied in order to minimize or completely annihilate the influence of the risk source identified.

Keywords: road transport, dangerous goods, risk analysis, risk evaluation

Procedia PDF Downloads 18

Authors: Dheyaa W. Abbood, Rafa H. AL-Suhaili, May S. Saleh

Abstract:

A model using the artificial neural networks and genetic algorithm technique is developed for obtaining optimum dimensions of the foundation length and protections of small hydraulic structures. The procedure involves optimizing an objective function comprising a weighted summation of the state variables. The decision variables considered in the optimization are the upstream and downstream cutoffs length sand their angles of inclination, the foundation length, and the length of the downstream soil protection. These were obtained for a given maximum difference in head, depth of impervious layer and degree of anisotropy.The optimization carried out subjected to constraints that ensure a safe structure against the uplift pressure force and sufficient protection length at the downstream side of the structure to overcome an excessive exit gradient. The Geo-studios oft ware, was used to analyze 1200 different cases. For each case the length of protection and volume of structure required to satisfy the safety factors mentioned previously were estimated. An ANN model was developed and verified using these cases input-output sets as its data base. A MatLAB code was written to perform a genetic algorithm optimization modeling coupled with this ANN model using a formulated optimization model. A sensitivity analysis was done for selecting the cross-over probability, the mutation probability and level ,the number of population, the position of the crossover and the weights distribution for all the terms of the objective function. Results indicate that the most factor that affects the optimum solution is the number of population required. The minimum value that gives stable global optimum solution of this parameters is (30000) while other variables have little effect on the optimum solution.

Keywords: inclined cutoff, optimization, genetic algorithm, artificial neural networks, geo-studio, uplift pressure, exit gradient, factor of safety

Procedia PDF Downloads 325

Authors: Marwa M. Abu-Serie, Marwa M. Eltarahony

Abstract:

The search for reliable, effective, and safe nanoparticles (NPs) as a treatment for cancer is a pressing priority. In this study, Cu-NPs were fabricated by Streptomyces cyaneofuscatus through simultaneous bioreduction strategy of copper nitrate salt. The as-prepared Cu-NPs subjected to structural analysis; energy-dispersive X-ray spectroscopy, elemental mapping, X-ray diffraction, transmission electron microscopy, and ζ-potential. These biological synthesized Cu-NPs were mixed with disulfiram (DS), forming a nanocomplex of Cu-DS with a size of ~135 nm. The prepared nanocomplex (nanoCu-DS) exhibited higher anticancer activity than that of free complex of DS-Cu, Cu-NPs, and DS alone. This was illustrated by the lowest IC50 of nanoCu-DS (< 4 µM) against human breast and liver cancer cell lines comparing with DS-Cu, Cu-NPs, and DS (~8, 22.98-33.51 and 11.95-14.86, respectively). Moreover, flow cytometric analysis confirmed that higher apoptosis percentage range of nanoCu-DS-treated in MDA-MB 231, MCF-7, Huh-7, and HepG-2 cells (51.24-65.28%) than free complex of Cu-DS ( < 4.5%). Regarding inhibition potency of liver and breast cancer cell migration, no significant difference was recorded between free and nanocomplex. Furthermore, nanoCu-DS suppressed gene expression of β-catenine, Akt, and NF-κB and upregulated p53 expression (> 3, >15, > 5 and ≥ 3 folds, respectively) more efficiently than free complex (all ~ 1 fold) in MDA-MB 231 and Huh-7 cells. Our finding proved this prepared nano complex has a powerful anticancer activity relative to free complex, thereby offering a promising cancer treatment.

Keywords: biologically prepared Cu-NPs, breast cancer cell lines, liver cancer cell lines, nanoCu- disulfiram

Procedia PDF Downloads 189

Authors: Jan Busch, Maurice Schmidt, Peter Nyhuis

Abstract:

The change of conditions for production companies in high-wage countries is characterized by the globalization of competition and the transition of a supplier´s to a buyer´s market. The companies need to face the challenges of reacting flexibly to these changes. Due to the significant and increasing degree of automation, assembly has become the most expensive production process. Regarding the reduction of production cost, assembly consequently offers a considerable rationalizing potential. Therefore, an aerodynamic feeding system has been developed at the Institute of Production Systems and Logistics (IFA), Leibniz Universitaet Hannover. In former research activities, this system has been enabled to adjust itself using genetic algorithm. The longer the genetic algorithm is executed the better is the feeding quality. In this paper, the relation between the system´s setting time and the feeding quality is observed and a function which enables the user to achieve the minimum of the total feeding time is presented.

Keywords: aerodynamic feeding system, batch size, optimisation, setting time

Procedia PDF Downloads 258

Authors: Eid Alharbi, Yaser Miaji, Saeed Alzahrani

Abstract:

The importance of fruit quality and freshness is potential in today’s life. Most recent studies show and automatic online sorting system according to the internal disorder for fresh apple fruit has developed by using near infrared (NIR) spectroscopic technology. The automatic convener belts system along with sorting mechanism was constructed. To check the internal quality of the apple fruit, apple was exposed to the NIR radiations in the range 650-1300 nm and the data were collected in form of absorption spectra. The collected data were compared to the reference (data of known sample) analyzed and an electronic signal was pass to the sorting system. The sorting system was separate the apple fruit samples according to electronic signal passed to the system. It is found that absorption of NIR radiation in the range 930-950 nm was higher in the internally defected samples as compared to healthy samples. On the base of this high absorption of NIR radiation in 930-950 nm region the online sorting system was constructed.

Keywords: mechatronics design, NIR, fruit quality, spectroscopic technology

Procedia PDF Downloads 496

Authors: Yushen Dai, Tao Deng, Miaoying Chen, Baoqin Huang, Yan Ji, Yongshen Feng, Shaofei Liu, Dongmei Zhong, Tao Zhang, Lifeng Zhang

Abstract:

Background: Detection and diagnosis are prerequisites for early interventions in the care of children with Autism Spectrum Disorder (ASD). However, few studies have focused on this topic. Aim: This study aims to characterize the timing from symptom detection to intervention in children with ASD and to identify the potential predictors of early detection, diagnosis, and intervention. Methods and procedures: A cross-sectional survey was conducted with 314 parents of children with ASD in Guangzhou, China. Outcomes and Results: This study found that most children (76.24%) were diagnosed within one year after detection, and 25.8% of them did not receive the intervention after diagnosis. Predictors to ASD diagnosis included ASD-related symptoms identified at a younger age, more serious symptoms, and initial symptoms with abnormal development and sensory anomalies. ASD-related symptoms observed at an older age, initial symptoms with the social deficit, sensory anomalies, and without language impairment, parents as the primary caregivers, family with lower income and less social support utilization increased the odds of the time lag between detection and diagnosis. Children whose fathers had a lower level of education were less likely to receive the intervention. Conclusions and Implications: The study described the time for detection, diagnosis, and interventions of children with ASD. Findings suggest that the ASD-related symptoms, the timing at which symptoms first become a concern, primary caregivers’ roles, father’s educational level, and the family economic status should be considered when offering support to improve early detection, diagnosis, and intervention. Helping children and their families take full advantage of support is also important.

Keywords: autism spectrum disorder, child, detection, diagnosis, intervention, social support

Procedia PDF Downloads 92

Authors: Saeed Dehnavi, Zahra Hadadi, Marzieh Rezabeigi, Nader Monirpoor

Abstract:

This study has been performed with the goal of investigating the effectiveness of psychodrama in the reduction of social anxiety among the male adolescents in Kermanshah. 210 adolescents (13-14 year-olds) from four junior high schools in Kermanshah filled Liebowitz Social Anxiety Scale for Children and Adolescents (LSAS-CA) (Masia-Warner, Klien & Liebowitz, 2003). 30 of the adolescents who obtained the highest scores in LSAS-CA scale were chosen as the sample and were randomly assigned as experimental group (15 people) and control group (15 people). The experimental group participated in two-hour sessions of psychodrama twice a week for 6 weeks. The control group received no intervention. The findings of this study showed a significant reduction in the symptoms of social anxiety among the adolescents in experimental group in comparison to that of the control group. Also a three-month follow-up confirmed the stability of the results. Adolescents’ interactions in the psychodrama group, talking about their problems to the group, and achieving appropriate solutions by themselves are the useful factors of this intervention.

Keywords: psychodrama, social anxiety disorder, adolescents, male adolescents

Procedia PDF Downloads 461

Authors: Wafa Al Jabri

Abstract:

Background: In Middle Eastern Countries (MECs), there is a high prevalence of genetic blood disorders (GBDs), particularly sickle cell disease and thalassemia. The GBDs are considered a major public health concern that place a huge burden to individuals, families, communities, and health care systems. The high rates of consanguineous marriages, along with the unacceptable termination of at-risk pregnancy in MECs, reduce the possible solutions to control the high prevalence of GBDs. Since the early 1970s, most of MECs have started introducing premarital screening services (PSS) as a preventive measure to identify the asymptomatic carriers of GBDs and to provide genetic counseling to help couples plan for healthy families; yet, the success rate of PSS is very low. Purpose: This paper aims to highlight the factors that affect the success of PSS in MECs. Methods: An integrative review of articles located in CINAHL, PubMed, SCOPUS, and MedLine was carried out using the following terms: “premarital screening,” “success,” “effectiveness,” and “ genetic blood disorders”. Second, a hand search of the reference lists and Google searches were conducted to find studies that did not exist in the primary database searches. Only studies which are conducted in MECs and published after 2010 were included. Studies that were not published in English were excluded. Results: Eighteen articles were included in the review. The results showed that PSS in most of the MECs was successful in achieving its objective of identifying high-risk marriages; however, the service failed to meet its ultimate goal of reducing the prevalence of GBDs. Various factors seem to hinder the success of PSS, including poor public awareness, late timing of the screening, culture and social stigma, lack of prenatal diagnosis services and therapeutic abortion, emotional factors, religious beliefs, and lack of genetic counseling services. However, poor public awareness, late timing of the screening, religious misbeliefs, and the lack of adequate counseling services were the most common barriers identified. Conclusion and Implications: The review help in providing a framework for an effective preventive measure to reduce the prevalence of GBDs in MECS. This framework focuses primarily in overcoming the identified barriers by providing effective health education programs in collaboration with religious leaders, offering the screening test to young adults at an earlier stage, and tailoring the genetic counseling to consider people’s values, beliefs, and preferences.

Keywords: premarital screening, middle east, genetic blood disorders, factors

Procedia PDF Downloads 83

Authors: Samuel Kwaku Essien, Catherine Trask, Niels Koehncke, Brenna Bath

Abstract:

Background: Low back disorder (LBD) is the most common musculoskeletal problem among farmers, with higher prevalence than other occupations. Operators of tractors and other farm machinery such as combines or all-terrain vehicles (ATV) can have considerable cumulative exposure to whole body vibration (WBV). Although there appears to be an association between LBD and WBV, lack of prospective studies makes the relationship between LBD and WBV unclear. Purpose: This study investigates the association between WBV and LBD among Saskatchewan farmers using a prospective cohort study Methods: The Saskatchewan Farm Injury Cohort Study Phase I (2007) and II (2013) data were used. Baseline data were collected via postal questionnaire on accumulated yearly tractor, combine, and ATV use as well as several covariates to support a biopsychosocial model of LBD. Follow-up data on musculoskeletal symptoms were collected for the 6-year with sample size of 1149. Questions on ‘low back trouble’ (ache, pain, discomfort) experienced in the last 12 months answered by farmer participants as ‘yes’ or ‘no’. A GEE-modified Poisson approach was performed using SPSS 22 and SAS 9.4. Results: Twelve-month Prevalence of LBD was 59.8%. In multivariate analysis of the 6-year follow-up, LBD was associated with ATV operation and tractor operation, with a dose-response relationship for annual accumulated tractor operation. Although combine operation ≥ 61 hrs/year was related to LBD in bivariate analysis, this difference did not persist after adjustment for confounder. Age was found to be a confounder in relationship between WBV and LBD and no interactions were found. Conclusion: Longer annual tractor operation and older age are important predictors of LBD symptoms in farmers. Future research involving direct measurement can help identify appropriate prevention strategies.

Keywords: agriculture, low back disorder, low back pain, occupational health

Procedia PDF Downloads 327

Authors: N. R. Badurally Adam, S. R. Monebhurrun, M. Z. Dauhoo, A. Khoodaruth

Abstract:

Transport energy demand is vital for the economic growth of any country. Globalisation and better standard of living plays an important role in transport energy demand. Recently, transport energy demand in Mauritius has increased significantly, thus leading to an abuse of natural resources and thereby contributing to global warming. Forecasting the transport energy demand is therefore important for controlling and managing the demand. In this paper, we develop a model to predict the transport energy demand. The model developed is based on a system of five stochastic differential equations (SDEs) consisting of five endogenous variables: fuel price, population, gross domestic product (GDP), number of vehicles and transport energy demand and three exogenous parameters: crude birth rate, crude death rate and labour force. An interval of seven years is used to avoid any falsification of result since Mauritius is a developing country. Data available for Mauritius from year 2003 up to 2009 are used to obtain the values of design variables by applying genetic algorithm. The model is verified and validated for 2010 to 2012 by substituting the values of coefficients obtained by GA in the model and using particle swarm optimisation (PSO) to predict the values of the exogenous parameters. This model will help to control the transport energy demand in Mauritius which will in turn foster Mauritius towards a pollution-free country and decrease our dependence on fossil fuels.

Keywords: genetic algorithm, modeling, particle swarm optimization, stochastic differential equations, transport energy demand

Procedia PDF Downloads 370

Authors: Ariadna Jalife Gómez, Claudia Rangel Escareño

Abstract:

The Acropora coral genus has experienced impactful consequences of climate change, especially in terms of population reduction related to limited thermal tolerance, however, comprehensive resources for genetic responses of these corals to phenomena are lacking. Thus, this study aims to identify key genes expressed across different developmental stages and conditions of Acropora spp. highlighted in published studies given the shared tissue and polyp-level characteristics among the species comprising the genus, as it is hypothesized that common reproductive, developmental, and stress response mechanisms are conserved. The presented resources, aiming to streamline the genus’ biology, elucidate several signaling pathways of development and stress response that contribute to the understanding of researchers of overall biological responses, while providing a genetic framework for potential further studies that might contribute to reef preservation strategies.

Keywords: acropora, development, genes, transcriptomics

Procedia PDF Downloads 13

Authors: Chiung-Man Tsai, Chia-Jui Weng

Abstract:

Leptin (LEP) and leptin receptor (LEPR) both play a crucial role in the mediation of physiological reactions and carcinogenesis and may serve as a candidate biomarker of oral cancer. The present case-control study aimed to examine the effects of single nucleotide polymorphisms (SNPs) of LEP -2548 G/A (rs7799039), LEPR K109R (rs1137100), and LEPR Q223R (rs1137101) with or without interacting to environmental carcinogens on the risk for oral squamous cell carcinoma (OSCC). The SNPs of three genetic allele, from 567 patients with oral cancer and 560 healthy controls in Taiwan were analyzed. All of The three genetic polymorphisms exhibited insignificant (P > .05) effects on the risk to have oral cancer. However, the patients with polymorphic allele of LEP -2548 have a significant low risk for the development of clinical stage (A/G, AOR = 0.670, 95% CI = 0.454–0.988, P < .05; A/G+G/G, AOR = 0.676, 95% CI = 0.467–0.978, P < .05) compared to patients with ancestral homozygous A/A genotype. Additionally, an interesting result was found that the impact of LEP -2548 G/A SNP on oral carcinogenesis in subjects without tobacco consumption (A/G, AOR=2.078, 95% CI: 1.161-3.720, p=0.014; A/G+G/G, AOR=2.002, 95% CI: 1.143-3.505, p=0.015) is higher than subjects with tobacco consumption. These results suggest that the genetic polymorphism of LEP -2548 G/A (rs7799039), LEPR K109R (rs1137100), and LEPR Q223R (rs1137101) were not associated with the susceptibility of oral cancer; SNP in LEP -2548 G/A showed a poor clinicopathological development of oral cancer; Population without tobacco consumption and with polymorphic LEP -2548 G/A gene may significantly increase the risk to have oral cancer.

Keywords: carcinogen, leptin, leptin receptor, oral squamous cell carcinoma, single nucleotide polymorphism

Procedia PDF Downloads 185

Authors: Eid Alharbi, Yaser Miaji

Abstract:

The importance of fruit quality and freshness is potential in today’s life. Most recent studies show and automatic online sorting system according to the internal disorder for fresh apple fruit has developed by using near infrared (NIR) spectroscopic technology. The automatic conveyer belts system along with sorting mechanism was constructed. To check the internal quality of the apple fruit, apple was exposed to the NIR radiations in the range 650-1300nm and the data were collected in form of absorption spectra. The collected data were compared to the reference (data of known sample) analyzed and an electronic signal was pass to the sorting system. The sorting system was separate the apple fruit samples according to electronic signal passed to the system. It is found that absorption of NIR radiation in the range 930-950nm was higher in the internally defected samples as compared to healthy samples. On the base of this high absorption of NIR radiation in 930-950nm region the online sorting system was constructed.

Keywords: mechatronics design, NIR, fruit quality, spectroscopic technology

Procedia PDF Downloads 398

Authors: Eid Alharbi, Yaser Miaji

Abstract:

The importance of fruit quality and freshness is potential in today’s life. Most recent studies show and automatic online sorting system according to the internal disorder for fresh apple fruit has developed by using near infrared (NIR) spectroscopic technology. The automatic conveyer belts system along with sorting mechanism was constructed. To check the internal quality of the apple fruit, apple was exposed to the NIR radiations in the range 650-1300nm and the data were collected in form of absorption spectra. The collected data were compared to the reference (data of known sample) analyzed and an electronic signal was pass to the sorting system. The sorting system was separate the apple fruit samples according to electronic signal passed to the system. It is found that absorption of NIR radiation in the range 930-950nm was higher in the internally defected samples as compared to healthy samples. On the base of this high absorption of NIR radiation in 930-950nm region the online sorting system was constructed.

Keywords: mechatronics design, NIR, fruit quality, spectroscopic technology

Procedia PDF Downloads 386

Authors: Amaal Almigal

Abstract:

Neurotypical children learn to ask questions from natural exposure and this skill is fundamental for their academic success. However, children with autism spectrum disorder may not learn to ask in the same way due to earlier communication impairments, and some may need to use Augmentative and Alternative Communication systems (AAC) to ask questions. This paper aims to highlight issues related to questioning skills in children with autism giving a specific attention to asking questions within preverbal or minimally verbal children. Different procedures have been employed to teach these children, including AAC users, to ask questions. Therefore, these procedures will also be discussed to administrate how they were used and what they were aimed to teach. This paper also provides a suggested procedure to assist preverbal or minimally verbal children to ask questions using an iPad application for communication (Proloquo2Go) as AAC. This suggested procedure was used with 3 children with autism. Initial results will be discussed to clarify ways in which this procedure was used with each child based on his skills and which questioning skills each child has acquired using this procedure.

Keywords: AAC, autism, communication, information, iPad, requesting

Procedia PDF Downloads 176

Authors: Abdul Manan

Abstract:

Dielectric Resonators (DRs) have revolutionized the microwave wireless communication industry globally. There are three directions for research in ceramics for application in telecommunication industry Three key properties of ceramic dielectrics that determine their functionality at microwave and millimetrewave frequencies include relative permittivity (εr), unloaded quality factor Qu- the inverse of the dielectric loss (tanδ) and temperature coefficient of resonant frequency (τf). Each direction requires specific properties. These dielectric properties are affected by a number of factors. These includes tolerance factor, onset of structural phase transitions, dark core formation, processing conditions, raw materials and impurities, order/disorder behavior, compositional ordering, porosity, humidity, grain size, orientation of the crystallites, and grain boundaries. The data related to these factors is scattered. The main purpose of this review is to bring these together and present the effects of these factors on the microwave dielectric properties. Control of these factors is important for improvement in the microwave properties. This review would be very helpful to the novice researchers and technologists in the field.

Keywords: order disorder, sintering, defect, porosity, grain boundaries

Procedia PDF Downloads 399

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

Abstract:

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

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

Procedia PDF Downloads 179

Authors: S. Yunus, A. Suratman, N. Mohamad Nor, M. Othman

Abstract:

This paper presents the measurement and simulation results by Finite Element Method (FEM) for earth resistance (R_DC) for interconnected vertical ground rod configurations. The soil resistivity was measured using the Wenner four-pin Method, and R_DC was measured using the Fall of Potential (FOP) method, as outlined in the standard. Genetic Algorithm (GA) is employed to interpret the soil resistivity to that of a 2-layer soil model. The same soil resistivity data that were obtained by Wenner four-pin method were used in FEM for simulation. This paper compares the results of R_DC obtained by FEM simulation with the real measurement at field site. A good agreement was seen for R_DC obtained by measurements and FEM. This shows that FEM is a reliable software to be used for design of earthing systems. It is also found that the parallel rod system has a better performance compared to a similar setup using a grid layout.

Keywords: earthing system, earth electrodes, finite element method, genetic algorithm, earth resistances

Procedia PDF Downloads 110

Authors: Sarah Odofin, Zhiwei Gao, Sun Kai

Abstract:

Operations, maintenance and reliability of wind turbines have received much attention over the years due to rapid expansion of wind farms. This paper explores early fault diagnosis scale technique based on a unique scheme of a 5MW wind turbine system that is optimized by genetic algorithm to be very sensitive to faults and resilient to disturbances. A quantitative model based analysis is pragmatic for primary fault diagnosis monitoring assessment to minimize downtime mostly caused by components breakdown and exploit productivity consistency. Simulation results are computed validating the wind turbine model which demonstrates system performance in a practical application of fault type examples. The results show the satisfactory effectiveness of the applied performance investigated in a Matlab/Simulink/Gatool environment.

Keywords: disturbance robustness, fault monitoring and detection, genetic algorithm, observer technique

Procedia PDF Downloads 381

Authors: Kahlil Fredrick Cui, Marissa Pastor

Abstract:

Earthquakes are complex phenomena, exhibiting complex correlations in space, time, and magnitude. Recently, the concept of complex networks has been used to shed light on the statistical and dynamical characteristics of regional seismicity. In this work, we study the relationships and interactions of seismic regions in Chile, Japan, and the Philippines through weighted and directed complex network analysis. Geographical areas are digitized into cells of fixed dimensions which in turn become the nodes of the network when an earthquake has occurred therein. Nodes are linked if a correlation exists between them as determined and measured by a correlation metric. The networks are found to be scale-free, exhibiting power-law behavior in the distributions of their different centrality measures: the in- and out-degree and the in- and out-strength. The evidence is also found of preferential interaction between seismically active regions through their degree-degree correlations suggesting that seismicity is dictated by the activity of a few active regions. The importance of a seismic region to the overall seismicity is measured using a generalized centrality metric taken to be an indicator of its activity or passivity. The spatial distribution of earthquake activity indicates the areas where strong earthquakes have occurred in the past while the passivity distribution points toward the likely locations an earthquake would occur whenever another one happens elsewhere. Finally, we propose a method that would project the location of the next possible earthquake using the generalized centralities coupled with correlations calculated between the latest earthquakes and a geographical point in the future.

Keywords: complex networks, correlations, earthquake, hazard assessment

Procedia PDF Downloads 213

Authors: Gopal Lamichhane, Biswash Sapkota, Grinsun Sharma, Mahendra Adhikari

Abstract:

Urolithiasis is a condition in which insoluble or less soluble salts like oxalate, phosphate etc. precipitate in urinary tract and causes obstruction in ureter resulting renal colic or sometimes haematuria. It is the third most common disorder of urinary tract affecting nearly 2% of world’s population. Poor urinary drainage, microbial infection, oxalate and calcium containing diet, calciferol, hyperparathyroidism, cysteine in urine, gout, dysfunction of intestine, drought environment, lifestyle, exercise, stress etc. are risk factors for urolithiasis. Wide ranges of treatments are available in allopathic system of medicine but reoccurrence is unpreventable even with the surgical removal of stone or lithotripsy. So, people prefer alternative medicinal systems such as Unani, homeopathic, ayurvedic etc. systems of medicine due to their fewer side effects over allopathic counterpart. Different plants based ethnomedicines are being well established by their continuous effective use in human since long time in treatment of urinary problem. Many studies have scientifically proved those ethnomedicines for antiurolithiatic effect in animal and in vitro model. Plant-based remedies were found to be therapeutically effective for both prevention as well as cure of calcium oxalate urolithiasis. Plants were known to show these effects through a combination of many effects such as antioxidant, diuretic, hypocalciuric, urine alkalinizing effect in them. Berberine, triterpenoids, lupeol are the phytochemicals established for antiurolithiatic effect. Hence, plant-based medicine can be the effective herbal alternative as well as means of discovery of novel drug molecule for curing urolithiatic disorder and should be focused on further research to discover their value in coming future.

Keywords: urolithiasis, herbal medicine, ethnomedicine, kidney stone, calcium oxalate

Procedia PDF Downloads 275