Search results for: preimplantation genetic screening
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 2713

Search results for: preimplantation genetic screening

2623 Development of a New Method for the Evaluation of Heat Tolerant Wheat Genotypes for Genetic Studies and Wheat Breeding

Authors: Hameed Alsamadany, Nader Aryamanesh, Guijun Yan

Abstract:

Heat is one of the major abiotic stresses limiting wheat production worldwide. To identify heat tolerant genotypes, a newly designed system involving a large plastic box holding many layers of filter papers positioned vertically with wheat seeds sown in between for the ease of screening large number of wheat geno types was developed and used to study heat tolerance. A collection of 499 wheat geno types were screened under heat stress (35ºC) and non-stress (25ºC) conditions using the new method. Compared with those under non-stress conditions, a substantial and very significant reduction in seedling length (SL) under heat stress was observed with an average reduction of 11.7 cm (P<0.01). A damage index (DI) of each geno type based on SL under the two temperatures was calculated and used to rank the genotypes. Three hexaploid geno types of Triticum aestivum [Perenjori (DI= -0.09), Pakistan W 20B (-0.18) and SST16 (-0.28)], all growing better at 35ºC than at 25ºC were identified as extremely heat tolerant (EHT). Two hexaploid genotypes of T. aestivum [Synthetic wheat (0.93) and Stiletto (0.92)] and two tetraploid genotypes of T. turgidum ssp dicoccoides [G3211 (0.98) and G3100 (0.93)] were identified as extremely heat susceptible (EHS). Another 14 geno types were classified as heat tolerant (HT) and 478 as heat susceptible (HS). Extremely heat tolerant and heat susceptible geno types were used to develop re combinant inbreeding line populations for genetic studies. Four major QTLs, HTI4D, HTI3B.1, HTI3B.2 and HTI3A located on wheat chromosomes 4D, 3B (x2) and 3A, explaining up to 34.67 %, 28.93 %, 13.46% % and 11.34% phenotypic variation, respectively, were detected. The four QTLs together accounted for 88.40% of the total phenotypic variation. Random wheat geno types possessing the four heat tolerant alleles performed significantly better under the heat condition than those lacking the heat tolerant alleles indicating the importance of the four QTLs in conferring heat tolerance in wheat. Molecular markers are being developed for marker assisted breeding of heat tolerant wheat.

Keywords: bread wheat, heat tolerance, screening, RILs, QTL mapping, association analysis

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2622 Genetics, Law and Society: Regulating New Genetic Technologies

Authors: Aisling De Paor

Abstract:

Scientific and technological developments are driving genetics and genetic technologies into the public sphere. Scientists are making genetic discoveries as to the make up of the human body and the cause and effect of disease, diversity and disability amongst individuals. Technological innovation in the field of genetics is also advancing, with the development of genetic testing, and other emerging genetic technologies, including gene editing (which offers the potential for genetic modification). In addition to the benefits for medicine, health care and humanity, these genetic advances raise a range of ethical, legal and societal concerns. From an ethical perspective, such advances may, for example, change the concept of humans and what it means to be human. Science may take over in conceptualising human beings, which may push the boundaries of existing human rights. New genetic technologies, particularly gene editing techniques create the potential to stigmatise disability, by highlighting disability or genetic difference as something that should be eliminated or anticipated. From a disability perspective, use (and misuse) of genetic technologies raise concerns about discrimination and violations to the dignity and integrity of the individual. With an acknowledgement of the likely future orientation of genetic science, and in consideration of the intersection of genetics and disability, this paper highlights the main concerns raised as genetic science and technology advances (particularly with gene editing developments), and the consequences for disability and human rights. Through the use of traditional doctrinal legal methodologies, it investigates the use (and potential misuse) of gene editing as creating the potential for a unique form of discrimination and stigmatization to develop, as well as a potential gateway to a form of new, subtle eugenics. This article highlights the need to maintain caution as to the use, application and the consequences of genetic technologies. With a focus on the law and policy position in Europe, it examines the need to control and regulate these new technologies, particularly gene editing. In addition to considering the need for regulation, this paper highlights non-normative approaches to address this area, including awareness raising and education, public discussion and engagement with key stakeholders in the field and the development of a multifaceted genetics advisory network.

Keywords: disability, gene-editing, genetics, law, regulation

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2621 Genomic Diversity of Clostridium perfringens Strains in Food and Human Sources

Authors: Asma Afshari, Abdollah Jamshidi, Jamshid Razmyar, Mehrnaz Rad

Abstract:

Clostridium perfringens is a serious pathogen which causes enteric diseases in domestic animals and food poisoning in humans. Spores can survive cooking processes and play an important role in the possible onset of disease. In this study RAPD-PCR and REP-PCR were used to examine the genetic diversity of 49isolates ofC. Perfringens type A from 3 different sources. The results of RAPD-PCR revealed the most genetic diversity among poultry isolates, while human isolates showed the least genetic diversity. Cluster analysis obtained from RAPD_PCR and based on the genetic distances split the 49 strains into five distinct major clusters (A, B, C, D, and E). Cluster A and C were composed of isolates from poultry meat, cluster B was composed of isolates from human feces, cluster D was composed of isolates from minced meat, poultry meat and human feces and cluster E was composed of isolates from minced meat. Further characterization of these strains by using (GTG) 5 fingerprint repetitive sequence-based PCR analysis did not show further differentiation between various types of strains. To our knowledge, this is the first study in which the genetic diversity of C. perfringens isolates from different types of meats and human feces has been investigated.

Keywords: C. perfringens, genetic diversity, RAPD-PCR, REP-PCR

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2620 Platform Integration for High-Throughput Functional Screening Applications

Authors: Karolis Leonavičius, Dalius Kučiauskas, Dangiras Lukošius, Arnoldas Jasiūnas, Kostas Zdanys, Rokas Stanislovas, Emilis Gegevičius, Žana Kapustina, Juozas Nainys

Abstract:

Screening throughput is a common bottleneck in many research areas, including functional genomics, drug discovery, and directed evolution. High-throughput screening techniques can be classified into two main categories: (i) affinity-based screening and (ii) functional screening. The first one relies on binding assays that provide information about the affinity of a test molecule for a target binding site. Binding assays are relatively easy to establish; however, they reveal no functional activity. In contrast, functional assays show an effect triggered by the interaction of a ligand at a target binding site. Functional assays might be based on a broad range of readouts, such as cell proliferation, reporter gene expression, downstream signaling, and other effects that are a consequence of ligand binding. Screening of large cell or gene libraries based on direct activity rather than binding affinity is now a preferred strategy in many areas of research as functional assays more closely resemble the context where entities of interest are anticipated to act. Droplet sorting is the basis of high-throughput functional biological screening, yet its applicability is limited due to the technical complexity of integrating high-performance droplet analysis and manipulation systems. As a solution, the Droplet Genomics Styx platform enables custom droplet sorting workflows, which are necessary for the development of early-stage or complex biological therapeutics or industrially important biocatalysts. The poster will focus on the technical design considerations of Styx in the context of its application spectra.

Keywords: functional screening, droplet microfluidics, droplet sorting, dielectrophoresis

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2619 The Accuracy of Measures for Screening Adults for Spiritual Suffering in Health Care Settings: A Systematic Review

Authors: Sayna Bahraini, Wendy Gifford, Ian Graham, Liquaa Wazni, Suzettee Bremault-Phillips, Rebekah Hackbusch, Catrine Demers, Mary Egan

Abstract:

Objective: Guidelines for palliative and spiritual care emphasize the importance of screening patients for spiritual suffering. The aim of this review was to synthesize the research evidence on the accuracy of measures used to screen adults for spiritual suffering. Methods: A systematic review has been conducted. We searched five scientific databases to identify relevant articles. Two independent reviewers screened extracted data and assessed study methodological quality. Results: We identified five articles that yielded information on 24 spiritual screening measures. Among all identified measures, the 2-item Meaning/Joy & Self-Described Struggle has the highest sensitivity (82-87%), and the revised Rush protocol has the highest specificity (81-90%). The methodological quality of all included studies was low. Significance of Results: While most of the identified spiritual screening measures are brief (comprise 1 to 12 number of items), few have sufficient accuracy to effectively screen patients for spiritual suffering. We advise clinicians to use their critical appraisal skills and clinical judgment when selecting and using any of the identified measures to screen for spiritual suffering.

Keywords: screening, suffering, spirituality, diagnostic test accuracy, systematic review

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2618 Methods for Distinction of Cattle Using Supervised Learning

Authors: Radoslav Židek, Veronika Šidlová, Radovan Kasarda, Birgit Fuerst-Waltl

Abstract:

Machine learning represents a set of topics dealing with the creation and evaluation of algorithms that facilitate pattern recognition, classification, and prediction, based on models derived from existing data. The data can present identification patterns which are used to classify into groups. The result of the analysis is the pattern which can be used for identification of data set without the need to obtain input data used for creation of this pattern. An important requirement in this process is careful data preparation validation of model used and its suitable interpretation. For breeders, it is important to know the origin of animals from the point of the genetic diversity. In case of missing pedigree information, other methods can be used for traceability of animal´s origin. Genetic diversity written in genetic data is holding relatively useful information to identify animals originated from individual countries. We can conclude that the application of data mining for molecular genetic data using supervised learning is an appropriate tool for hypothesis testing and identifying an individual.

Keywords: genetic data, Pinzgau cattle, supervised learning, machine learning

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2617 Universal Screening for GBS and Efficacy of GBS Intrapartum Antibiotic Prophylaxis [IAP] an Al Rahba Experience

Authors: Ritu Nambiar, Shazia Tariq, Sumaira Jamil, Farida Munawar, Imelda Israell

Abstract:

GBS has emerged as a leading cause of neonatal infections worldwide and clinical trials have demonstrated that giving IAP was effective in reducing early onset GBS (EOGBS) disease of the newborn. There is no available data on the prevalence of GBS in the UAE, therefore, a retrospective chart analysis of our parturients were done to look at our prevalence. The aim of this study is: 1. To study the prevalence of GBS colonization of parturients at al Rahba Hospital following universal screening between 35-37 week. 2. To look at efficacy of GBS intrapartum antibiotic prophylaxis by NICU admission for EO GBS disease of the newborn. 1) The prevalence of GBS in our patient population is 24.15%. 2) Incidence of EO GBS disease of the newborn was 0.6%.

Keywords: GBS Screening, universal intrapartum antibiotic prophylaxis, parturients, newborn

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2616 Screening of Congenital Heart Diseases with Fetal Phonocardiography

Authors: F. Kovács, K. Kádár, G. Hosszú, Á. T. Balogh, T. Zsedrovits, N. Kersner, A. Nagy, Gy. Jeney

Abstract:

The paper presents a novel screening method to indicate congenital heart diseases (CHD), which otherwise could remain undetected because of their low level. Therefore, not belonging to the high-risk population, the pregnancies are not subject to the regular fetal monitoring with ultrasound echocardiography. Based on the fact that CHD is a morphological defect of the heart causing turbulent blood flow, the turbulence appears as a murmur, which can be detected by fetal phonocardiography (fPCG). The proposed method applies measurements on the maternal abdomen and from the recorded sound signal a sophisticated processing determines the fetal heart murmur. The paper describes the problems and the additional advantages of the fPCG method including the possibility of measurements at home and its combination with the prescribed regular cardiotocographic (CTG) monitoring. The proposed screening process implemented on a telemedicine system provides an enhanced safety against hidden cardiac diseases.

Keywords: cardiac murmurs, fetal phonocardiography, screening of CHDs, telemedicine system

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2615 An Animation-Based Resource for Screening Emotional and Behavioural Distress in Children Aged 6 to 12

Authors: Zoe Lynch, Kirsty Zieschank

Abstract:

There are several factors that compromise the utility and wide-spread use of existing emotional and behavioural distress screening instruments. Some of these factors include lengthy administration times, high costs, feasibility issues, and a lack of self-report options for children under 12 years of age. This animation-based resource was developed to overcome as many of these factors as possible. Developed for educators and medical and mental health professionals, this resource offers children a self-guided mechanism for reporting any current emotional and behavioural distress. An avatar assistant, selected by the child, accompanies them through each stage of the screening process, offering further instruction if prompted. Children enter their age and gender before viewing comparative animations conveying common childhood emotional and behavioural difficulties. The child then selects the most relatable animations, along with the frequency with which they experience the depicted emotions. From a perspective of intellectual development, an engaging, animated format means that outcomes will not be constrained by children’s reading, writing, cognitive, or verbal expression abilities. Having been user-tested with children aged 6 to 12, this resource shows promising results as a self-guided screening instrument.

Keywords: animation-based screening instrument, mental health, primary-aged children, self-guided

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2614 A Dynamic Software Product Line Approach to Self-Adaptive Genetic Algorithms

Authors: Abdelghani Alidra, Mohamed Tahar Kimour

Abstract:

Genetic algorithm must adapt themselves at design time to cope with the search problem specific requirements and at runtime to balance exploration and convergence objectives. In a previous article, we have shown that modeling and implementing Genetic Algorithms (GA) using the software product line (SPL) paradigm is very appreciable because they constitute a product family sharing a common base of code. In the present article we propose to extend the use of the feature model of the genetic algorithms family to model the potential states of the GA in what is called a Dynamic Software Product Line. The objective of this paper is the systematic generation of a reconfigurable architecture that supports the dynamic of the GA and which is easily deduced from the feature model. The resultant GA is able to perform dynamic reconfiguration autonomously to fasten the convergence process while producing better solutions. Another important advantage of our approach is the exploitation of recent advances in the domain of dynamic SPLs to enhance the performance of the GAs.

Keywords: self-adaptive genetic algorithms, software engineering, dynamic software product lines, reconfigurable architecture

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2613 Investigation of Genetic Diversity in Bread Wheat by RAPD and SSR Markers

Authors: Mohammad Sadegh Khavarinejad

Abstract:

In this study, genetic diversity of 10 bread wheat genotypes by SSR and RAPD markers was evaluated. 11 primers were used included 6 RAPD primers and 5 SSR primers. RAPDs and SSRs could find 33 and 17 polymorphism respectively. In RAPDs, primers UBC 350 and UBC 109 and in SSRs, Primers Xgwm 469-6D and Xgwm120-2B showed genetic diversity among genotypes more than others.

Keywords: wheat, molecular markers, SSR, RAPD

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2612 Carbamazepine Co-crystal Screening with Dicarboxylic Acids Co-Crystal Formers

Authors: S. Abd Rahim, F. A. Rahman, E. M. Nasir, N. A. Ramle

Abstract:

Co-crystal is believed to improve the solubility and dissolution rates and thus, enhanced the bioavailability of poor water soluble drugs particularly during the oral route of administration. With the existing of poorly soluble drugs in pharmaceutical industry, the screening of co-crystal formation using carbamazepine (CBZ) as a model drug compound with dicarboxylic acids co-crystal formers (CCF) namely fumaric (FA) and succinic (SA) acids in ethanol has been studied. The co-crystal formations were studied by varying the mol ratio values of CCF to CBZ to access the effect of CCF concentration on the formation of the co-crystal. Solvent evaporation, slurry, and cooling crystallisations which representing the solution based method co-crystal screening were used. The product crystal from the screening was characterized using X-ray powder diffraction (XRPD). The XRPD pattern profile analysis has shown that the CBZ co-crystals with FA and SA were successfully formed for all ratios studied. The findings revealed that CBZ-FA co-crystal were formed in two different polymorphs. It was found that CBZ-FA form A and form B were formed from evaporation and slurry crystallisation methods respectively. On the other hand, in cooling crystallisation method, CBZ-FA form A was formed at lower mol ratio of CCF to CBZ and vice versa. This study disclosed that different methods and mol ratios during the co-crystal screening can affect the outcome of co-crystal produced such as polymorphic forms of co-crystal and thereof. Thus, it was suggested that careful attentions is needed during the screening since the co-crystal formation is currently one of the promising approach to be considered in research and development for pharmaceutical industry to improve the poorly soluble drugs.

Keywords: co-crystal, dicarboxylic acid, carbamazepine, industry

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2611 Optimization of Steel Moment Frame Structures Using Genetic Algorithm

Authors: Mohammad Befkin, Alireza Momtaz

Abstract:

Structural design is the challenging aspect of every project due to limitations in dimensions, functionality of the structure, and more importantly, the allocated budget for construction. This research study aims to investigate the optimized design for three steel moment frame buildings with different number of stories using genetic algorithm code. The number and length of spans, and height of each floor were constant in all three buildings. The design of structures are carried out according to AISC code within the provisions of plastic design with allowable stress values. Genetic code for optimization is produced using MATLAB program, while buildings modeled in Opensees program and connected to the MATLAB code to perform iterations in optimization steps. In the end designs resulted from genetic algorithm code were compared with the analysis of buildings in ETABS program. The results demonstrated that suggested structural elements by the code utilize their full capacity, indicating the desirable efficiency of produced code.

Keywords: genetic algorithm, structural analysis, steel moment frame, structural design

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2610 Function Study of IrMYB55 in Regulating Synthesis of Terpenoids in Isodon Rubescens

Authors: Qingfang Guo

Abstract:

Isodon rubescens is rich in a variety of terpenes such as oridonin. It has important medicinal value. MYB transcription factors are involved in the regulation of plant secondary metabolic pathways. The combined transcriptomics and metabolomics analysis revealed that IrMYB55 might be involved in the regulation of the synthesis of terpenes. The function of IrMYB55 was further verified by establishing of a genetic transformation system by CRISPR/Cas9. Obtaining a virus-mediated Isodon rubescens gene silencing material. The main research results are as follows: (1) Screening IrMYB which can regulate the synthesis of terpenes. Metabolomics and transcriptomics analyses of materials with high (TJ)-and low (FL)-content populations which revealed significant differences in terpene content and IrMYB55 expression. Correlation analysis showed that the expression level of IrMYB55 had a significant correlation with the content of terpenes. (2) Establishment of a genetic transformation system of Isodon rubescens. The IrPDS gene could be knocked out by injection of Isodon rubescens cotyledon, and the transformed material showed obvious albino phenotype. Subsequently, IrMYB55 conversion material was obtained by this method. (3) The IrMYB55 silencing material was obtained. Subcellular localization indicated that IrMYB55 was located in the nucleus, indicating that it might regulate the synthesis of terpenoids through transcription. In summary, IrMYB55 that may regulate the synthesis of oridonin was dug out from the transcriptome and metabolome data. In this study, a genetic transformation system of Isodon rubescens was successfully established. Further studies showed that IrMYB55 regulated the transcription level of genes related to the synthesis of terpenoids, thereby promoting the accumulation of oridonin.

Keywords: isodon rubescens, MYB, oridonin, CRISPR/Cas9

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2609 Development of Microsatellite Markers for Genetic Variation Analysis in House Cricket, Acheta domesticus

Authors: Yash M. Gupta, Kittisak Buddhachat, Surin Peyachoknagul, Somjit Homchan

Abstract:

The house cricket, Acheta domesticus is one of the commonly found species of field crickets. Although it is very commonly used as food and feed, the genomic information of house cricket is still missing for genetic investigation. DNA sequencing technology has evolved over the decades, and it has also revolutionized the molecular marker development for genetic analysis. In the present study, we have sequenced the whole genome of A. domesticus using illumina platform based HiSeq X Ten sequencing technology for searching simple sequence repeats (SSRs) in DNA to develop polymorphic microsatellite markers for population genetic analysis. A total of 112,157 SSRs with primer pairs were identified, 91 randomly selected SSRs used to check DNA amplification, of which nine primers were polymorphic. These microsatellite markers have shown cross-amplification with other three species of crickets which are Gryllus bimaculatus, Gryllus testaceus and Brachytrupes portentosus. These nine polymorphic microsatellite markers were used to check genetic variation for forty-five individuals of A. domesticus, Phitsanulok population, Thailand. For nine loci, the number of alleles was ranging from 5 to 15. The observed heterozygosity was ranged from 0.4091 to 0.7556. These microsatellite markers will facilitate population genetic analysis for future studies of A. domesticus populations. Moreover, the transferability of these SSR makers would also enable researchers to conduct genetic studies for other closely related species.

Keywords: cross-amplification, microsatellite markers, observed heterozygosity, population genetic, simple sequence repeats

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2608 Exploitation of Variability for Salinity Tolerance in Maize Hybrids (Zea Mays L.) at Early Growth Stage

Authors: Abdul Qayyum, Hafiz Muhammad Saeed, Mamoona Hanif, Etrat Noor, Waqas Malik, Shoaib Liaqat

Abstract:

Salinity is extremely serious problem that has a drastic effect on maize crop, environment and causes economic losses of country. An advance technique to overcome salinity is to develop salt tolerant geno types which require screening of huge germplasm to start a breeding program. Therefore, present study was undertaken to screen out 25 maize hybrids of different origin for salinity tolerance at seedling stage under three levels of salt stress 250 and 300 mM NaCl including one control. The existence of variation for tolerance to enhanced NaCl salinity levels at seedling stage in maize proved that hybrids had differing ability to grow under saline environment and potential variability within specie. Almost all the twenty five maize hybrids behaved varyingly in response to different salinity levels. However, the maize hybrids H6, H13, H21, H23 and H24 expressed better performance under salt stress in terms of all six characters and proved to be as highly tolerant while H22, H17 H20, H18, H4, H9, and H8 were identified as moderately tolerant. Hybrids H14, H5, H11 and H3 H12, H2, were expressed as most sensitive to salinity suggesting that screening is an effective tool to exploit genetic variation among maize hybrids and salt tolerance in maize can be enhanced through selection and breeding procedure.

Keywords: salinity, hybrids, maize, variation

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2607 Newborn Hearing Screening: Experience from a Center in South part of Iran

Authors: Marzieh Amiri, Zahra Iranpour Mobarakeh, Fatemeh Mehrbakhsh, Mehran Amiri

Abstract:

Introduction: Early diagnosis and intervention of congenital hearing loss is necessary to minimize the adverse effects of hearing loss. The aim of the present study was to report the results of newborn hearing screening in a centerin the south part of Iran, Fasa. Material and methods: In this study, the data related to 6,144 newbornsduring September 2018 up to September2021, was analyzed. Hearing screening was performed using transient evoked otoacoustic emissions (TEOAEs) and automated auditory brainstem response (AABR) tests. Results: From all 6144 newborns,3752 and 2392referred to the center from urban and rural part of Fasa, respectively. There were 2958 female and 3186 male in this study. Of 6144 newborns, 6098 ones passed the screening tests, and 46 neonates were referred to a diagnostic audiology clinic. Finally, nine neonates were diagnosed with congenital hearing loss (seven with sensorineural hearing loss and two with conductive hearing loss). The severity of all the hearing impaired neonates was moderate and above. The most important risk factors were family history of hearing loss, low gestational age, NICU hospitalization, and hyperbilirubinemia. Conclusion: Our results showed that the prevalence of hearing loss was 1.46 per 1000 infants. Boosting public knowledge by providing families with proper education appears to be helpful in preventing the negative effects of delayed implementation of health screening programs.

Keywords: newborn hearing screening, hearing loss, risk factor, prevalence

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2606 A Web Application for Screening Dyslexia in Greek Students

Authors: Antonios Panagopoulos, Stamoulis Georgios

Abstract:

Dyslexia's diagnosis is made taking into account reading and writing skills and is carried out by qualified scientific staff. In addition, there are screening tests that are designed to give an indication of possible dyslexic difficulties. Their main advantage is that they create a pleasant environment for the user and reduce the stress that can lead to false results. An online application was created for the first time, as far as authors' knowledge, for screening Dyslexia in Greek high school students named «DyScreTe». Thus, a sample of 240 students between 16 and 18 years old in Greece was taken, of which 120 were diagnosed with dyslexia by an official authority in Greece, and 120 were typically developed. The main hypothesis that was examined is that students who were diagnosed with dyslexia by official authorities in Greece had significantly lower performance in the respective software tests. The results verified the hypothesis we made those children with dyslexia in each test had a lower performance com-pared to the type developed in successful responses, except for the intelligence test. After random sampling, it was shown that the new online application was a useful tool for screening dyslexia. However, computer evaluation cannot replace the diagnosis by a professional expert, but with the results of this application, the interdisciplinary team that deals with the differential diagnosis will create and evaluate, at a later time, the appropriate intervention program.

Keywords: dyslexia, screening tests, deficits, application

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2605 Analytical Validity Of A Tech Transfer Solution To Internalize Genetic Testing

Authors: Lesley Northrop, Justin DeGrazia, Jessica Greenwood

Abstract:

ASPIRA Labs now offers an en-suit and ready-to-implement technology transfer solution to enable labs and hospitals that lack the resources to build it themselves to offer in-house genetic testing. This unique platform employs a patented Molecular Inversion Probe (MIP) technology that combines the specificity of a hybrid capture protocol with the ease of an amplicon-based protocol and utilizes an advanced bioinformatics analysis pipeline based on machine learning. To demonstrate its efficacy, two independent genetic tests were validated on this technology transfer platform: expanded carrier screening (ECS) and hereditary cancer testing (HC). The analytical performance of ECS and HC was validated separately in a blinded manner for calling three different types of variants: SNVs, short indels (typically, <50 bp), and large indels/CNVs defined as multi-exonic del/dup events. The reference set was constructed using samples from Coriell Institute, an external clinical genetic testing laboratory, Maine Molecular Quality Controls Inc. (MMQCI), SeraCare and GIAB Consortium. Overall, the analytical performance showed a sensitivity and specificity of >99.4% for both ECS and HC in detecting SNVs. For indels, both tests reported specificity of 100%, and ECS demonstrated a sensitivity of 100%, whereas HC exhibited a sensitivity of 96.5%. The bioinformatics pipeline also correctly called all reference CNV events resulting in a sensitivity of 100% for both tests. No additional calls were made in the HC panel, leading to a perfect performance (specificity and F-measure of 100%). In the carrier panel, however, three additional positive calls were made outside the reference set. Two of these calls were confirmed using an orthogonal method and were re-classified as true positives leaving only one false positive. The pipeline also correctly identified all challenging carrier statuses, such as positive cases for spinal muscular atrophy and alpha-thalassemia, resulting in 100% sensitivity. After confirmation of additional positive calls via long-range PCR and MLPA, specificity for such cases was estimated at 99%. These performance metrics demonstrate that this tech-transfer solution can be confidently internalized by clinical labs and hospitals to offer mainstream ECS and HC as part of their test catalog, substantially increasing access to quality germline genetic testing for labs of all sizes and resources levels.

Keywords: clinical genetics, genetic testing, molecular genetics, technology transfer

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2604 Dual Band Antenna Design with Compact Radiator for 2.5/5.2/5.8 Ghz Wlan Application Using Genetic Algorithm

Authors: Ramnath Narhete, Saket Pandey, Puran Gour

Abstract:

This paper presents of dual-band planner antenna with a compact radiator for 2.4/5.2/5.8 proposed by optimizing its resonant frequency, Bandwidth of operation and radiation frequency using the genetic algorithm. The antenna consists L-shaped and E-shaped radiating element to generate two resonant modes for dual band operation. The above techniques have been successfully used in many applications. Dual band antenna with the compact radiator for 2.4/5.2/5.8 GHz WLAN application design and radiator size only width 8mm and a length is 11.3 mm. The antenna can we used for various application in the field of communication. Genetic algorithm will be used to design the antenna and impedance matching network.

Keywords: genetic algorithm, dual-band E, dual-band L, WLAN, compact radiator

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2603 The Benefit of a Universal Screening Program for Lipid Disorders in Two to Ten Years Old Lebanese Children

Authors: Nicolas Georges, Akiki Simon, Bassil Naim, Nawfal Georges, Abi Fares Georges

Abstract:

Introduction: Dyslipidemia has been recognized as a risk factor for cardiovascular diseases. While the development of atherosclerotic lesions begins in childhood and progresses throughout life, data on the prevalence of dyslipidemic children in Lebanon is lacking. Objectives: This study was conducted to assess the benefit of a protocol for universal screening for lipid disorder in Lebanese children aged between two and ten years old. Materials and Methods: A total of four hundred children aged 2 to 10 years old (51.5% boys) were included in the study. The subjects were recruited from private pediatric clinics after parental consent. Fasting total cholesterol (TC), triglycerides (TG), low-density lipoprotein (LDL), high-density lipoprotein (HDL) levels were measured and non-HDL cholesterol was calculated. The values were categorized according to 2011 Expert on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents. Results: The overall prevalence of high TC ( ≥ 200 mg/dL), high non-HDL-C ( ≥ 145 mg/dL), high LDL ( ≥ 130 mg/dL), high TG ( ≥ 100 mg/dL) and low HDL ( < 40 mg/dL) was respectively 19.5%, 23%, 19%, 31.8% and 20%. The overall frequency of dyslipidemia was 51.7%. In a bivariate analysis, dyslipidemia in children was associated with a BMI ≥ 95ᵗʰ percentile and parents having TC > 240 mg/dL with a P value respectively of 0.006 and 0.0001. Furthermore, high TG was independently associated with a BMI ≥ 95ᵗʰ percentile (P=0.0001). Children with parents having TC > 240 mg/dL was significantly correlated with high TC, high non-HDL-C and high LDL (P=0.0001 for all variables). Finally, according to the Pediatric dyslipidemia screening guidelines from the 2011 Expert Panel, 62.3% of dyslipidemic children had at least 1 risk factor that qualified them for screening while 37.7% of them didn’t have any risk factor. Conclusions: It is preferable to review the latest pediatric dyslipidemia screening guidelines by performing a universal screening program since a third of our dyslipidemic Lebanese children have been missed.

Keywords: cardiovascular risk factors, dyslipidemia, Lebanese children, screening

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2602 Solving Process Planning and Scheduling with Number of Operation Plus Processing Time Due-Date Assignment Concurrently Using a Genetic Search

Authors: Halil Ibrahim Demir, Alper Goksu, Onur Canpolat, Caner Erden, Melek Nur

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Traditionally process planning, scheduling and due date assignment are performed sequentially and separately. High interrelation between these functions makes integration very useful. Although there are numerous works on integrated process planning and scheduling and many works on scheduling with due date assignment, there are only a few works on the integration of these three functions. Here we tested the different integration levels of these three functions and found a fully integrated version as the best. We applied genetic search and random search and genetic search was found better compared to the random search. We penalized all earliness, tardiness and due date related costs. Since all these three terms are all undesired, it is better to penalize all of them.

Keywords: process planning, scheduling, due-date assignment, genetic algorithm, random search

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2601 Approximately Similarity Measurement of Web Sites Using Genetic Algorithms and Binary Trees

Authors: Doru Anastasiu Popescu, Dan Rădulescu

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In this paper, we determine the similarity of two HTML web applications. We are going to use a genetic algorithm in order to determine the most significant web pages of each application (we are not going to use every web page of a site). Using these significant web pages, we will find the similarity value between the two applications. The algorithm is going to be efficient because we are going to use a reduced number of web pages for comparisons but it will return an approximate value of the similarity. The binary trees are used to keep the tags from the significant pages. The algorithm was implemented in Java language.

Keywords: Tag, HTML, web page, genetic algorithm, similarity value, binary tree

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2600 Computer-Aided Depression Screening: A Literature Review on Optimal Methodologies for Mental Health Screening

Authors: Michelle Nighswander

Abstract:

Suicide can be a tragic response to mental illness. It is difficult for people to disclose or discuss suicidal impulses. The stigma surrounding mental health can create a reluctance to seek help for mental illness. Patients may feel pressure to exhibit a socially desirable demeanor rather than reveal these issues, especially if they sense their healthcare provider is pressed for time or does not have an extensive history with their provider. Overcoming these barriers can be challenging. Although there are several validated depression and suicide risk instruments, varying processes used to administer these tools may impact the truthfulness of the responses. A literature review was conducted to find evidence of the impact of the environment on the accuracy of depression screening. Many investigations do not describe the environment and fewer studies use a comparison design. However, three studies demonstrated that computerized self-reporting might be more likely to elicit truthful and accurate responses due to increased privacy when responding compared to a face-to-face interview. These studies showed patients reported positive reactions to computerized screening for other stigmatizing health conditions such as alcohol use during pregnancy. Computerized self-screening for depression offers the possibility of more privacy and patient reflection, which could then send a targeted message of risk to the healthcare provider. This could potentially increase the accuracy while also increasing time efficiency for the clinic. Considering the persistent effects of mental health stigma, how these screening questions are posed can impact patients’ responses. This literature review analyzes trends in depression screening methodologies, the impact of setting on the results and how this may assist in overcoming one barrier caused by stigma.

Keywords: computerized self-report, depression, mental health stigma, suicide risk

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2599 Reliability Improvement of Power System Networks Using Adaptive Genetic Algorithm

Authors: Alireza Alesaadi

Abstract:

Reliability analysis is a powerful method for determining the weak points of the electrical networks. In designing of electrical network, it is tried to design the most reliable network with minimal system shutting down, but it is usually associated with increasing the cost. In this paper, using adaptive genetic algorithm, a method was presented that provides the most reliable system with a certain economical cost. Finally, the proposed method is applied to a sample network and results will be analyzed.

Keywords: reliability, adaptive genetic algorithm, electrical network, communication engineering

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2598 A Preliminary Study for Design of Automatic Block Reallocation Algorithm with Genetic Algorithm Method in the Land Consolidation Projects

Authors: Tayfun Çay, Yasar İnceyol, Abdurrahman Özbeyaz

Abstract:

Land reallocation is one of the most important steps in land consolidation projects. Many different models were proposed for land reallocation in the literature such as Fuzzy Logic, block priority based land reallocation and Spatial Decision Support Systems. A model including four parts is considered for automatic block reallocation with genetic algorithm method in land consolidation projects. These stages are preparing data tables for a project land, determining conditions and constraints of land reallocation, designing command steps and logical flow chart of reallocation algorithm and finally writing program codes of Genetic Algorithm respectively. In this study, we designed the first three steps of the considered model comprising four steps.

Keywords: land consolidation, landholding, land reallocation, optimization, genetic algorithm

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2597 Optimal Portfolio Selection under Treynor Ratio Using Genetic Algorithms

Authors: Imad Zeyad Ramadan

Abstract:

In this paper a genetic algorithm was developed to construct the optimal portfolio based on the Treynor method. The GA maximizes the Treynor ratio under budget constraint to select the best allocation of the budget for the companies in the portfolio. The results show that the GA was able to construct a conservative portfolio which includes companies from the three sectors. This indicates that the GA reduced the risk on the investor as it choose some companies with positive risks (goes with the market) and some with negative risks (goes against the market).

Keywords: oOptimization, genetic algorithm, portfolio selection, Treynor method

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2596 The Necessity of Screening for Internalizing Mental Health Problems in Primary School Educational Settings

Authors: Atefeh Ahmadi, Mohamed Sharif Mustaffa

Abstract:

Mental health problems that children introspect them are hardly identified. The internalizing nature of Anxiety Disorders as the most prevalent psychological diseases, make them been under recognized by parents and teachers and so become under attended by school counsellors and subsequently under referred to clinicians. The aim of this study is to investigate the level of Anxiety Disorders to clarify if it is necessary to run screening programs in rural educational settings. Spence children anxiety scale-malay-child for the first time in Malaysia distributed among 640 Malay rural primary school students aged from 9-11 years old. Cut-off score was considered one standard deviation more than the mean of all students’ scores. The results of descriptive analyses revealed the mean for scores of SCAS was 32.84 and 15.6% of students had high level of anxiety. In addition, the level and prevalence of six types of anxiety disorders based on SCAS were described. In regards to the study outcomes, screening for anxiety disorders in academic settings could prevent and reduce their side effects by early identification.

Keywords: anxiety disorders, primary schools, SCAS, screening

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2595 Knowledge and Attitude of Final Year Undergraduate Nursing Students towards Prevention of Cervical Cancer

Authors: Afaf Abdallah, Moawia Elsadig

Abstract:

Background: Cervical cancer is the second most common women cancer among worldwide; representing 13% of female cancers. In Sudan, it ranks as the second most frequent cancer among women as other developing countries. Aim: Is to study awareness, attitude of nursing students towards cervical cancer prevention. The results: Most of the students were not aware of other screening methods than Pap smear test. However, half of the respondents showed positive attitudes towards HPV vaccination. More than two-thirds of respondents exhibited a positive attitude and were willing to undergo Pap smear in the future. Conclusion: The study shows that the majority of the participants have poor information, education would motivate nurses to participate actively in awareness raising, screening, and management.

Keywords: cervical cancer, knowledge, attitude, screening

Procedia PDF Downloads 440
2594 Seismic Retrofitting of Structures Using Steel Plate Slit Dampers Based on Genetic Algorithm

Authors: Mohamed Noureldin, Jinkoo Kim

Abstract:

In this study, a genetic algorithm was used to find out the optimum locations of the slit dampers satisfying a target displacement. A seismic retrofit scheme for a building structure was presented using steel plate slit dampers. A cyclic loading test was used to verify the energy dissipation capacity of the slit damper. The seismic retrofit of the model structure using the slit dampers was compared with the retrofit with enlarging shear walls. The capacity spectrum method was used to propose a simple damper distribution scheme proportional to the inter-story drifts. The validity of the simple story-wise damper distribution procedure was verified by comparing the results of the genetic algorithm. It was observed that the proposed simple damper distribution pattern was in a good agreement with the optimum distribution obtained from the genetic algorithm. Acknowledgment: This research was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (NRF-2017R1D1A1B03032809).

Keywords: slit dampers, seismic retrofit, genetic algorithm, optimum design

Procedia PDF Downloads 218