Search results for: genetic testing

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

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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

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Authors: Mustafa Malki, Ewan R. Pearson

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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

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Authors: Kuei-Yu Chien, Nai-Wen Kan, Wan-Chun Wu, Guo-Dong Ma, Shu-Chen Chen

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Purpose: The purpose of this study was to investigate the responses of systolic blood pressure (SBP), diastolic blood pressure (DBP), heart rate (HR), rating of perceived exertion (RPE) and lactate following continued high-intensity interval exercise in water and on land. The results of studies can be an exercise program design reference for health care and fitness professionals. Method: A total of 20 volunteer postmenopausal women was included in this study. The inclusion criteria were: duration of menopause > 1 year; and sedentary lifestyle, defined as engaging in moderate-intensity exercise less than three times per week, or less than 20 minutes per day. Participants need to visit experimental place three times. The first time visiting, body composition was performed and participant filled out the questionnaire. Participants were assigned randomly to the exercise environment (water or land) in second and third time visiting. Water exercise testing was under water of trochanter level. In continuing jump testing, each movement consisted 10-second maximum volunteer jump for two sets. 50% heart rate reserve dynamic resting (walking or running) for one minute was within each set. SBP, DBP, HR, RPE of whole body/thigh (RPEW/RPET) and lactate were performed at pre and post testing. HR, RPEW, and RPET were monitored after 1, 2, and 10 min of exercise testing. SBP and DBP were performed after 10 and 30 min of exercise testing. Results: The responses of SBP and DBP after exercise testing in water were higher than those on land. Lactate levels after exercise testing in water were lower than those on land. The responses of RPET were lower than those on land post exercise 1 and 2 minutes. The heart rate recovery in water was faster than those on land at post exercise 5 minutes. Conclusion: This study showed water interval jump exercise induces higher cardiovascular responses with lower RPE responses and lactate levels than on-land jumps exercise in postmenopausal women. Fatigue is one of the major reasons to obstruct exercise behavior. Jump exercise could enhance cardiorespiratory fitness, the lower-extremity power, strength, and bone mass. There are several health benefits to the middle to older adults. This study showed that water interval jumping could be more relaxed and not tried to reach the same land-based cardiorespiratory exercise intensity.

Keywords: interval exercise, power, recovery, fatigue

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

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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

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Authors: Saeid Jalilzadeh

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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

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

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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

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Authors: Jan Busch, Maurice Schmidt, Peter Nyhuis

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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

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Authors: Wafa Al Jabri

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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

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

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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

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Authors: Chiung-Man Tsai, Chia-Jui Weng

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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

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Authors: Yu-Lin Shen, Ming-Kuen Chang

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In addition to a considerable amount of machinery and equipment, intricacies of the transmission pipeline exist in Petrochemical plants. Long term corrosion may lead to pipeline thinning and rupture, causing serious safety concerns. With the advances in non-destructive testing technology, more rapid and long-range ultrasonic detection techniques are often used for pipeline inspection, EMAT without coupling to detect, it is a non-contact ultrasonic, suitable for detecting elevated temperature or roughened e surface of line. In this study, we prepared artificial defects in pipeline for Electromagnetic Acoustic Transducer testing (EMAT) to survey the relationship between the defect location, sizing and the EMAT signal. It was found that the signal amplitude of EMAT exhibited greater signal attenuation with larger defect depth and length. In addition, with bigger flat hole diameter, greater amplitude attenuation was obtained. In summary, signal amplitude attenuation of EMAT was affected by the defect depth, defect length and the hole diameter and size.

Keywords: EMAT, artificial defect, NDT, ultrasonic testing

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Authors: Arijit Basuray, Saibal Chatterjee

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Pulsed Power in the form of Recurrent Surge Generator (RSG) can be used for testing various parameters of Motor or Transformer windings including inter-turn, interlayer insulation. Windings with solid insulation in motor and transformer have many interfaces and undesirable defects, and these defects can be exposed under this nondestructive testing methodology. Due to rapid development in power electronics variable frequency drives (VFD), Dry Type or cast resin Transformer used with PWM Sine wave inverters for solar power, solid insulation system used nowadays are shifting more and more to a high-frequency application. Authors have used the recurrent surge generator for testing winding integrity as well as Partial Discharge(PD) at fast rising voltage enabling PD measurement at closer situation under which the insulation system is supposed to work. Authors have discussed test results on a different system with recurrent surge voltages of different rise time.

Keywords: fast rising voltage, partial discharge, pulsed power, recurrent surge generator, solid insulation

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

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

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

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

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This paper presents the measurement and simulation results by Finite Element Method (FEM) for earth resistance (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

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Authors: Emin Z. Mahmud

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This paper presents the observations from a series of shaking-table tests done on a 1:1 scaled confined masonry wall model, with opening for a door – specimens CMDuS (confined masonry wall with opening for a door before strengthening) and CMDS (confined masonry wall with opening for a door after strengthening). Frequency and stiffness changes before and after GFRP (Glass Fiber Reinforced Plastic) wall strengthening are analyzed. Definition of dynamic properties of the models was the first step of the experimental testing, which enabled acquiring important information about the achieved stiffness (natural frequencies) of the model. The natural frequency was defined in the Y direction of the model by applying resonant frequency search tests. It is important to mention that both specimens CMDuS and CMDS are subjected to the same effects. The tests are realized in the laboratory of the Institute of Earthquake Engineering and Engineering Seismology (IZIIS), Skopje. The specimens were examined separately on the shaking table, with uniaxial, in-plane excitation. After testing, samples were strengthened with GFRP and re-tested. The initial frequency of the undamaged model CMDuS is 13.55 Hz, while at the end of the testing, the frequency decreased to 6.38 Hz. This emphasizes the reduction of the initial stiffness of the model due to damage, especially in the masonry and tie-beam to tie-column connection. After strengthening of the damaged wall, the natural frequency increases to 10.89 Hz. This highlights the beneficial effect of the strengthening. After completion of dynamic testing at CMDS, the natural frequency is reduced to 6.66 Hz.

Keywords: behaviour of masonry structures, Eurocode, frequency, masonry, shaking table test, strengthening

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Authors: Alyona Gencheva

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The most common way to study diagnostic results is using specialized programs at a stationary workplace. Magnetic Resonance Imaging is presented in a two-dimensional (2D) format, and Computed Tomography sometimes looks like a three-dimensional (3D) model that can be interacted with. The main idea of the research is to compare ways of displaying diagnostic results in virtual reality that can help a surgeon during or before an operation in augmented reality. During the experiment, the medical staff examined liver vessels in the abdominal area and heart boundaries. The search time and detection accuracy were measured on black-and-white and coloured scans. Usability testing in virtual reality shows convenient ways of interaction like hand input, voice activation, displaying risk to the patient, and the required number of scans. The results of the experiment will be used in the new C# program based on Magic Leap technology.

Keywords: augmented reality, computed tomography, magic leap, magnetic resonance imaging, usability testing, VTE risk

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Authors: Sarah Odofin, Zhiwei Gao, Sun Kai

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

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

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Authors: Sarakorn Sukaviriya

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This paper describes the inspection procedure, root cause analysis, the rectification of crack, and how to apply the procedure with other similar plants. During the operation of the steam turbine (620MW), instruments such as speed sensor of steam turbine, the servo valve of main stop valve and electrical wires were malfunction caused by leakage steam from main steam governing valve. Therefore, the power plant decided to shutdown steam turbines for figuring out the cause of leakage steam. Inspection techniques to be applied in this problem were microstructure testing (SEM), pipe stress analysis (FEM) and non-destructive testing. The crack was initially found on main governing valve’s weldment by visual inspection. To analyze more precisely, pipe stress analysis and microstructure testing were applied and results indicated that the crack was intergranular and originated from the weld defect. This weld defect caused the notch with high-stress concentration which created crack and then propagated to steam leakage. The major root cause of this problem was an inappropriate welding process, which created a weld defect. To repair this joint from damage, we used a welding technique by producing refinement of coarse grain HAZ and eliminating stress concentration. After the weldment was completely repaired, other adjacent weldments still had risk. Hence, to prevent any future cracks, non-destructive testing (NDT) shall be applied to all joints in order to ensure that there will be no indication of crack.

Keywords: steam-pipe leakage, steam leakage, weld crack analysis, weld defect

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Authors: Fakhrosadat Sajjadian

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In the USA, about 5% of women diagnosed with breast cancer annually are affected by Inflammatory Breast Cancer (IBC), which is a highly aggressive type of Locally Advanced Breast Cancer (LABC). It is a type of LABC that is clinically and pathologically different, known for its rapid growth, invasiveness, and ability to promote the growth of blood vessels. Almost all women are found to have lymph nodes affected upon diagnosis, while around 36% show obvious distant metastases. Even with the latest improvements in multimodality therapies, the outlook for patients with IBC remains bleak, as the average disease-free survival time is less than 2.5 years. Recent research on the genetic factors responsible for the IBC phenotype has resulted in the discovery of genes that play a role in the advancement of this illness. The development of primary human cell lines and animal models has assisted in this research. These advancements offer new possibilities for future actions in identifying and treating IBC.

Keywords: breast cancer, inflammation, diagnosis, IBC, LABC

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Authors: Nathaniel A. Hoston

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Teacher coaching is necessary for improving student behaviors. While coaching technologies (e.g., bug-in-ear coaching, video-coaching) can assist the coaching process, little is known about the usability of those tools. This study assessed the usability and perceived efficacy of the Behavior Coaching Organizer (BCO) using usability testing methods (i.e., concurrent think-aloud, retrospective probing) in a simulated learning environment. Participants found that the BCO is moderately usable while perceiving the tool as highly effective for addressing concerning student behaviors. Additionally, participants noted a general need for continued coaching support. The results indicate a need for further usability testing with education research.

Keywords: behavioral interventions, Behavior Coaching Organizer, coaching technologies, usability methods

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Authors: Prasanna Haddela

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Document analysis is a well matured yet still active research field, partly as a result of the intricate nature of building computational tools but also due to the inherent problems arising from the variety and complexity of human languages. Breaking down language barriers is vital in enabling access to a number of recent technologies. This paper investigates the application of document classification methods to new Sinhalese datasets. This language is geographically isolated and rich with many of its own unique features. We will examine the interpretability of the classification models with a particular focus on the use of evolved Lucene search queries generated using a Genetic Algorithm (GA) as a method of document classification. We will compare the accuracy and interpretability of these search queries with other popular classifiers. The results are promising and are roughly in line with previous work on English language datasets.

Keywords: evolved search queries, Sinhala document classification, Lucene Sinhala analyzer, interpretable text classification, genetic algorithm

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Authors: Aran Abd Al Rahman

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Joubert syndrome regards as a congenital cerebellar ataxia caused by autosomal recessive carried on X chromosome. The disease diagnosed by brain imaging—the so-called molar tooth sign. Neurological signs were present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 30 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus, The purpose of our project was to detect the mutant gene (INPP5E gene) which cause Joubert syndrome. There were many methods used for diagnosis such as MRI and CT- scan and molecular diagnosis by doing ARMS PCR for detection of mutant gene that we were used in this research project. In this research for individual family which reported, the two children with parents, the two children were affected and were carrier.

Keywords: Joubert syndrome, genetic disease, Kurdistan region, Sulaimani

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Authors: Ayşen Melda Çolak, Volkan Okatan, Ercan Yıldız

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In our country, fruit production was determined as 17.2 million tons in 2011 according to official data. Turkey fig, apricot, cherry and quince production ranks first in the world. Almost all the regions of our country, despite the growing of fruit 54% of the total fruit production occur in the Mediterranean and the Aegean Region. However, fruit production in the country is consumed in the domestic market and export rates are often very low. In this study, a questionnaire to 100 farmers face-to-face interview. According to the survey, 40% of those in fruit and 7 da of 7 hectares land are small. 30% of soil testing for manufacturers, testing for 20% of the water. Manufacturers who deliberately fertilization rate of only 10%.

Keywords: fruit, generation, potential, Sivasli survey

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Authors: Hamish Love, Navjot Bhullar, Nicola Schutte

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Self-control and related psychological constructs have been shown to have a large role in the improvement and maintenance of healthful dietary behaviour. However, self-control for diet, and related constructs such as motivation, level of conflict between tempting desires and dietary goals, and attentional bias for tempting food, have not been studied together to establish their relationships, to the author’s best knowledge. Therefore the aim of this paper was to conduct model testing on these constructs and evaluate how they relate to affect dietary outcomes. 400 Australian adult participants will be recruited via the Qualtrics platform and will be representative across age and gender. They will complete survey and reaction timing surveys to gather data on the five target constructs: Trait Self-control, Attentional Bias for Food, Dietary Goal-Desire Incongruence, Motivation for Dietary Self-control, and Satisfaction with Dietary Behaviour. A model of moderated mediation is predicted, whereby the initial predictor (Dietary Goal-Desire Incongruence) predicts the level of the outcome variable, Satisfaction with Dietary Behaviour. We hypothesise that the relationship between these two variables will be mediated by Trait Self-Control and that the extent that Trait Self-control is allowed to mediate dietary outcome is moderated by both Attentional Bias for Food and Motivation for Dietary Self-control. The analysis will be conducted using the PROCESS module in SPSS 23. The results of model testing in this current study will be valuable to direct future research and inform which constructs could be important targets for intervention to improve dietary outcomes.

Keywords: self-control, diet, model testing, attentional bias, motivation

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Authors: R. Nagarani

Abstract:

An intrinsic property of software in a real-world environment is its need to evolve, which is usually accompanied by the increase of software complexity and deterioration of software quality, making software maintenance a tough problem. Refactoring is regarded as an effective way to address this problem. Many refactoring approaches at the method and class level have been proposed. But the extent of research on software refactoring at the package level is less. This work presents a novel approach to refactor the package structures of object oriented software using genetic algorithm based community detection. It uses software networks to represent classes and their dependencies. It uses a constrained community detection algorithm to obtain the optimized community structures in software networks, which also correspond to the optimized package structures. It finally provides a list of classes as refactoring candidates by comparing the optimized package structures with the real package structures.

Keywords: community detection, complex network, genetic algorithm, package, refactoring

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Authors: Shahzad Bhattiab, M. Aslamkhana, Sana Abbasbc, Marcella Attimonellid, Kumarasamy Thangaraje, Erica Martinha Silva de Souzaf, Uzay U. Sezen

Abstract:

The present study was designed to investigate three regions of mitochondrial DNA, HVI, HVII and HVIII, to hold a powwow genetic diversity and affiliations in 115 probands of 6 major ethnic groups, viz., Bijarani, Chandio, Ghallu, Khoso, Nasrani and Solangi, in the province of Sindh of Pakistan. For this purpose 88 haplotypes were scrutinized, defined by particular set of nucleotides (ignoring the C insertions around position 309 and 315). In spite of that 82% sequences were observed once, 12 % twice and 5.2 % thrice. The most common South Asian haplotypes were observed M (42%), N (6.9%) and R (6.9%) whereas west Eurasian haplotypes were J (1.7%), U (23.4%), H (9.5%), W (6.9%) and T (0.86%), in six ethnic groups. A random match probability between two unrelated individuals was found 0.06 %, while genetic diversity was ranged to be 0.991 to 0.999, and nucleotide diversity ranged from 0.0089 to 0.0142 for the whole control region of the population studied.

Keywords: mtDNA haplogroups, control region, Pakistan, Sindh, ethnicity

Procedia PDF Downloads 399

Authors: Karim Kootahi, Seyed Abolhasan Naeini

Abstract:

The soil-water characteristic curve (SWCC), which represents the relationship between suction and water content (or degree of saturation), is an important property of unsaturated soils. The conventional method for determining SWCC is through specialized testing procedures. Since these procedures require specialized unsaturated soil testing apparatus and lengthy testing programs, several index properties-based correlations have been developed for estimating the SWCC of fine-grained soils. There are, however, considerable inconsistencies among the published correlations and there is no validation study on the predictive ability of existing correlations. In the present study, all existing index properties-based correlations are evaluated using a high quality worldwide database. The performances of existing correlations are assessed both graphically and quantitatively using statistical measures. The results of the validation indicate that most of the existing correlations provide unacceptable estimates of degree of saturation but the most recent model appears to be promising.

Keywords: SWCC, correlations, index properties, validation

Procedia PDF Downloads 158

Authors: Hussain Syed Asad, Richard Kwok Kit Yuen, Gongsheng Huang

Abstract:

Real-time optimization has been considered an effective approach for improving energy efficient operation of heating, ventilation, and air-conditioning (HVAC) systems. In model-based real-time optimization, model mismatches cannot be avoided. When model mismatches are significant, the performance of the real-time optimization will be impaired and hence the expected energy saving will be reduced. In this paper, the model mismatches for chiller plant on real-time optimization are considered. In the real-time optimization of the chiller plant, simplified semi-physical or grey box model of chiller is always used, which should be identified using available operation data. To overcome the model mismatches associated with the chiller model, hybrid Genetic Algorithms (HGAs) method is used for online real-time training of the chiller model. HGAs combines Genetic Algorithms (GAs) method (for global search) and traditional optimization method (i.e. faster and more efficient for local search) to avoid conventional hit and trial process of GAs. The identification of model parameters is synthesized as an optimization problem; and the objective function is the Least Square Error between the output from the model and the actual output from the chiller plant. A case study is used to illustrate the implementation of the proposed method. It has been shown that the proposed approach is able to provide reliability in decision making, enhance the robustness of the real-time optimization strategy and improve on energy performance.

Keywords: energy performance, hybrid adaptive modeling, hybrid genetic algorithms, real-time optimization, heating, ventilation, and air-conditioning

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Authors: B. Daheche, M. T. Hannachi, H. Djebaili

Abstract:

In this approach, we tried to describe the flare test tubes welded by high frequency induction HF, and its experimental application. The test is carried out ENTTPP (National company of pipe mill and processing of flat products). Usually, the final products (tube) undergo a series of destructive testing (CD) in order to see the efficiency of welding. This test performed on sections of pipe with a length defined in the notice is made under a determined effort (pressure), which depends on its share of other parameters namely mechanical (fracture resistance) and geometry (thickness tube, outside diameter), the variation of this effort is well researched and recorded.

Keywords: flare, destructive testing, pressure, drafts tube, tube finished

Procedia PDF Downloads 297

Authors: Simon B. N. Thompson

Abstract:

Retinoblastoma is a rare type of childhood genetic cancer that affects children worldwide. The diagnosis is often missed due to lack of education and difficulty in presentation of the tumor. Frequently, the tumor on the retina is noticed by photography when the red-eye flash, commonly seen in normal eyes, is not produced. Instead, a yellow or white colored patch is seen or the child has a noticeable strabismus. Early detection can be life-saving though often results in removal of the affected eye. Remaining functioning in the healthy eye when the child is young has resulted in super-vision and high or above-average intelligence. Technological advancement of cameras has helped in early detection. Brain imaging has also made possible early detection of neurological diseases and, together with the monitoring of cortisol levels and yawning frequency, promises to be the next new early diagnostic tool for the detection of neurological diseases where cortisol insufficiency is particularly salient, such as multiple sclerosis and Cushing’s disease.

Keywords: cortisol, neurological disease, retinoblastoma, Thompson cortisol hypothesis, yawning

Procedia PDF Downloads 377