Search results for: gene concordance factor confidence
Commenced in January 2007
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Edition: International
Paper Count: 7624

Search results for: gene concordance factor confidence

4174 Tax Evasion and Macroeconomic (In)stability

Authors: Wei-Neng Wang, Jhy-Yuan Shieh, Jhy-Hwa Chen, Juin-Jen Chang

Abstract:

This paper incorporate tax evasion into a one-sector real business cycle (RBC) model to explores the quantitative interrelations between income tax rate and equilibrium (in)determinacy, and income tax rate is endogenously determined in order to balance the government budget. We find that the level of the effective income tax rate is key factor for equilibrium (in)determinacy, instead of the level of income tax rate in a tax evasion economy. Under an economy with tax evasion, the higher income tax rate is not sufficiently to lead to equilibrium indeterminate, it must combine with a necessary condition which is the lower fraction of tax evasion and that can result in agents' optimistic expectations to become self-fulfilling and sunspot fluctuation more likely to occur. On the other hand, an economy with tax evasion can see its macroeconomy become more stabilize, and a higher fraction of income tax evasion may has a stronger stabilizing effect.

Keywords: tax evasion, balanced-budget rule, equlibirium (in)determinacy, effective income tax rate

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4173 A Study of a Diachronic Relationship between Two Weak Inflection Classes in Norwegian, with Emphasis on Unexpected Productivity

Authors: Emilija Tribocka

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This contribution presents parts of an ongoing study of a diachronic relationship between two weak verb classes in Norwegian, the a-class (cf. the paradigm of ‘throw’: kasta – kastar – kasta – kasta) and the e-class (cf. the paradigm of ‘buy’: kjøpa – kjøper – kjøpte – kjøpt). The study investigates inflection class shifts between the two classes with Old Norse, the ancestor of Modern Norwegian, as a starting point. Examination of inflection in 38 verbs in four chosen dialect areas (106 places of attestations) demonstrates that the shifts from the a-class to the e-class are widespread to varying degrees in three out of four investigated areas and are more common than the shifts in the opposite direction. The diachronic productivity of the e-class is unexpected for several reasons. There is general agreement that type frequency is an important factor influencing productivity. The a-class (53% of all weak verbs) was more type frequent in Old Norse than the e-class (42% of all weak verbs). Thus, given the type frequency, the expansion of the e-class is unexpected. Furthermore, in the ‘core’ areas of expanded e-class inflection, the shifts disregard phonological principles creating forms with uncomfortable consonant clusters, e.g., fiskte instead of fiska, the preterit of fiska ‘fish’. Later on, these forms may be contracted, i.e., fiskte > fiste. In this contribution, two factors influencing the shifts are presented: phonological form and token frequency. Verbs with the stem ending in a consonant cluster, particularly when the cluster ends in -t, hardly ever shift to the e-class. As a matter of fact, verbs with this structure belonging to the e-class in Old Norse shift to the a-class in Modern Norwegian, e.g., ON e-class verb skipta ‘change’ shifts to the a-class. This shift occurs as a result of the lack of morpho-phonological transparency between the stem and the preterit suffix of the e-class, -te. As there is a phonological fusion between the stem ending in -t and the suffix beginning in -t, the transparent a-class inflection is chosen. Token frequency plays an important role in the shifts, too, in some dialects. In one of the investigated areas, the most token frequent verbs of the ON e-class remain in the e-class (e.g., høyra ‘hear’, leva ‘live’, kjøpa ‘buy’), while less frequent verbs may shift to the a-class. Furthermore, the results indicate that the shift from the a-class to the e-class occurs in some of the most token frequent verbs of the ON a-class in this area, e.g., lika ‘like’, lova ‘promise’, svara ‘answer’. The latter is unexpected as frequent items tend to remain stable. This study presents a case of unexpected productivity, demonstrating that minor patterns can grow and outdo major patterns. Thus, type frequency is not the only factor that determines productivity. The study addresses the role of phonological form and token frequency in the spread of inflection patterns.

Keywords: inflection class, productivity, token frequency, phonological form

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4172 Craftwork Sector of Tangier: Cooperation, Communication and New Opportunities

Authors: María García-García, Esther Simancas-González, Said Balhadj, Carmen Silva-Robles, Driss Ferhane

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Cooperation between the territories on both sides of the Strait of Gibraltar is an urgent reality. the south of Spain and northern Morocco share a common historical past and belong to a very similar geographical and ecological area. Economic, social and cultural relations make cooperation between the two countries’ (Spain and Morocco) a priority for the EU and both countries governments. Likewise, deepened changes happened in production systems and consumption patterns had seriously damaged and weakened the craftwork sector. The promotion of local crafts, and its economic value, and the cooperation with the north of Morocco has been an important issue for the Andalusian government in recent years. The main aim of this work is to understand the strengths and weaknesses of the Tangier - Tetuan region craftworks sector in order to develop accurate communication and promotion plans. From the knowledge of the real identity, the sector could be repositioned. Promotion and communication could be a spur to traditional sectors, such as crafts. Competitiveness requires "the culture of communication, the cooperation between different companies to build powerful territory brands and maintain the establishment confidence and effectiveness relationships among agencies and organizations". The lack of previous literature addressing how Tangier craftwork promote and communicate its value to their stakeholders, has conducted the study to an exploratory approach with a double dimension: internal, Tangier craftwork sector image, and external, Andalusia image of the sector in Tangier. Different interviews were conducted with Andalusian partners involved in the artisanal sector (9 master craftsmen and 3 institutions) and focus groups with 9 Tangiers craftsmen were developed. The result of these interviews and expert groups are reflected in a SWOT analysis which reveals a handcraft industry with a worrying wide-spread and undifferentiated identity and reluctance to innovation and new technologies.

Keywords: communication management, image, Moroccan crafts, Spain-Morocco cooperation

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4171 Proinflammatory Response of Agglomerated TiO2 Nanoparticles in Human-Immune Cells

Authors: Vaiyapuri Subbarayn Periasamy, Jegan Athinarayanan, Ali A. Alshatwi

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The widespread use of Titanium oxide nanoparticles (TiO2-NPs), now are found with different physic-chemical properties (size, shape, chemical properties, agglomeration, etc.) in many processed foods, agricultural chemicals, biomedical products, food packaging and food contact materials, personal care products, and other consumer products used in daily life. Growing evidences have been highlighted that there are risks of physico-chemical properties dependent toxicity with special attention to “TiO2-NPs and human immune system”. Unfortunately, agglomeration and aggregation have frequently been ignored in immuno-toxicological studies, even though agglomeration and aggregation would be expected to affect nanotoxicity since it changes the size, shape, surface area, and other properties of the TiO2-NPs. In this present investigation, we assessed the immune toxic effect of TiO2-NPs on human immune cells Total WBC including Lymphocytes (T cells (CD3+), T helper cells (CD3+, CD4+), Suppressor/cytotoxic T cells (CD3+/CD8+) and NK cells (CD3-/CD16+ and CD56+), Monocytes (CD14+, CD3-) and B lymphocytes (CD19+, CD3-) in order to find the immunological response (IL1A, IL1B, IL2 IL-4, IL5 IL-6, IL-10, IL-12, IL-13, IFN-γ, TGF-β, and TNF-a) and redox gene regulation (TNF, p53, BCl-2, CAT, GSTA4, TNF, CYP1A, POR, SOD1, GSTM3, GPX1, and GSR1)-linking physicochemical properties with special reference to agglomeration of TiO2-NPs. Our findings suggest that TiO2-NPs altered cytokine production, enhanced phagocytic indexing, metabolic stress through specific immune regulatory- genes expression in different WBC subsets and may contribute to pro-inflammatory response. Although TiO2-NPs have great advantages in the personal care products, biomedical, food and agricultural products, its chronic and acute immune-toxicity still need to be assessed carefully with special reference to food and environmental safety.

Keywords: TiO2 nanoparticles, oxidative stress, cytokine, human immune cells

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4170 Assessment of Slope Stability by Continuum and Discontinuum Methods

Authors: Taleb Hosni Abderrahmane, Berga Abdelmadjid

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The development of numerical analysis and its application to geomechanics problems have provided geotechnical engineers with extremely powerful tools. One of the most important problems in geotechnical engineering is the slope stability assessment. It is a very difficult task due to several aspects such the nature of the problem, experimental consideration, monitoring, controlling, and assessment. The main objective of this paper is to perform a comparative numerical study between the following methods: The Limit Equilibrium (LEM), Finite Element (FEM), Limit Analysis (LAM) and Distinct Element (DEM). The comparison is conducted in terms of the safety factors and the critical slip surfaces. Through the results, we see the feasibility to analyse slope stability by many methods.

Keywords: comparison, factor of safety, geomechanics, numerical methods, slope analysis, slip surfaces

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4169 Analyzing Keyword Networks for the Identification of Correlated Research Topics

Authors: Thiago M. R. Dias, Patrícia M. Dias, Gray F. Moita

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The production and publication of scientific works have increased significantly in the last years, being the Internet the main factor of access and distribution of these works. Faced with this, there is a growing interest in understanding how scientific research has evolved, in order to explore this knowledge to encourage research groups to become more productive. Therefore, the objective of this work is to explore repositories containing data from scientific publications and to characterize keyword networks of these publications, in order to identify the most relevant keywords, and to highlight those that have the greatest impact on the network. To do this, each article in the study repository has its keywords extracted and in this way the network is  characterized, after which several metrics for social network analysis are applied for the identification of the highlighted keywords.

Keywords: bibliometrics, data analysis, extraction and data integration, scientometrics

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4168 Application of Co-Flow Jet Concept to Aircraft Lift Increase

Authors: Sai Likitha Siddanathi

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Present project is aimed at increasing the amount of lift produced by typical airfoil. This is achieved by its modification into the co-flow jet structure where a new internal flow is created inside the airfoil from well-designed apertures on its surface. The limit where produced excess lift overcomes the weight of pumping system inserted in airfoil upper portion, and drag force is converted into thrust is discussed in terms of airfoil velocity and angle of attack. Two normal and co-flow jet models are numerically designed and experimental results for both fabricated normal airfoil and CFJ model have been tested in low subsonic wind tunnel. Application has been made to subsonic NACA 652-415 airfoil. Produced lift in CFJ airfoil indicates a maximum value up to a factor of 5 above normal airfoil nearby flow separation ie in relatively weak flow distribution.

Keywords: flow Jet, lift coefficient, drag coefficient, airfoil performance

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4167 Preschoolers’ Selective Trust in Moral Promises

Authors: Yuanxia Zheng, Min Zhong, Cong Xin, Guoxiong Liu, Liqi Zhu

Abstract:

Trust is a critical foundation of social interaction and development, playing a significant role in the physical and mental well-being of children, as well as their social participation. Previous research has demonstrated that young children do not blindly trust others but make selective trust judgments based on available information. The characteristics of speakers can influence children’s trust judgments. According to Mayer et al.’s model of trust, these characteristics of speakers, including ability, benevolence, and integrity, can influence children’s trust judgments. While previous research has focused primarily on the effects of ability and benevolence, there has been relatively little attention paid to integrity, which refers to individuals’ adherence to promises, fairness, and justice. This study focuses specifically on how keeping/breaking promises affects young children’s trust judgments. The paradigm of selective trust was employed in two experiments. A sample size of 100 children was required for an effect size of w = 0.30,α = 0.05,1-β = 0.85, using G*Power 3.1. This study employed a 2×2 within-subjects design to investigate the effects of moral valence of promises (within-subjects factor: moral vs. immoral promises), and fulfilment of promises (within-subjects factor: kept vs. broken promises) on children’s trust judgments (divided into declarative and promising contexts). In Experiment 1 adapted binary choice paradigms, presenting 118 preschoolers (62 girls, Mean age = 4.99 years, SD = 0.78) with four conflict scenarios involving the keeping or breaking moral/immoral promises, in order to investigate children’s trust judgments. Experiment 2 utilized single choice paradigms, in which 112 preschoolers (57 girls, Mean age = 4.94 years, SD = 0.80) were presented four stories to examine their level of trust. The results of Experiment 1 showed that preschoolers selectively trusted both promisors who kept moral promises and those who broke immoral promises, as well as their assertions and new promises. Additionally, the 5.5-6.5-year-old children are more likely to trust both promisors who keep moral promises and those who break immoral promises more than the 3.5- 4.5-year-old children. Moreover, preschoolers are more likely to make accurate trust judgments towards promisor who kept moral promise compared to those who broke immoral promises. The results of Experiment 2 showed significant differences of preschoolers’ trust degree: kept moral promise > broke immoral promise > broke moral promise ≈ kept immoral promise. This study is the first to investigate the development of trust judgement in moral promise among preschoolers aged 3.5-6.5. The results show that preschoolers can consider both valence and fulfilment of promises when making trust judgments. Furthermore, as preschoolers mature, they become more inclined to trust promisors who keep moral promises and those who break immoral promises. Additionally, the study reveals that preschoolers have the highest level of trust in promisors who kept moral promises, followed by those who broke immoral promises. Promisors who broke moral promises and those who kept immoral promises are trusted the least. These findings contribute valuable insights to our understanding of moral promises and trust judgment.

Keywords: promise, trust, moral judgement, preschoolers

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4166 Detection of JC Virus DNA and T-Ag Expression in a Subpopulation of Tunisian Colorectal Carcinomas

Authors: Wafa Toumi, Alessandro Ripalti, Luigi Ricciardiello, Dalila Gargouri, Jamel Kharrat, Abderraouf Cherif, Ahmed Bouhafa, Slim Jarboui, Mohamed Zili, Ridha Khelifa

Abstract:

Background & aims: Colorectal cancer (CRC) is one of the most common malignancies throughout the world. Several risk factors, both genetic and environmental, including viral infections, have been linked to colorectal carcinogenesis. A few studies report the detection of human polyomavirus JC (JCV) DNA and transformation antigen (T-Ag) in a fraction of the colorectal tumors studied and suggest an association of this virus with CRC. In order to investigate whether such an association of JCV with CRC will hold in a different epidemiological setting, we looked for the presence of JCV DNA and T-Ag expression in a group of Tunisian CRC patients. Methods: Fresh colorectal mucosa biopsies were obtained from 17 healthy volunteers and from both colorectal tumors and adjacent normal tissues of 47 CRC patients. DNA was extracted from fresh biopsies or from formalin-fixed, paraffin-embedded tissue sections using the Invitrogen Purelink Genomic DNA mini Kit. A simple PCR and a nested PCR were used to amplify a region of the T-Ag gene. The obtained PCR products revealed a 154 bp and a 98 bp bands, respectively. Specificity was confirmed by sequencing of the PCR products. T-Ag expression was determined by immunohistochemical staining using a mouse monoclonal antibody (clone PAb416) directed against SV40 T-Ag that cross reacts with JCV T-Ag. Results: JCV DNA was found in 12 (25%) and 22 (46%) of the CRC tumors by simple PCR and by nested PCR, respectively. All paired adjacent normal mucosa biopsies were negative for viral DNA. Sequencing of the DNA amplicons obtained confirmed the authenticity of T-Ag sequences. Immunohistochemical staining showed nuclear T-Ag expression in all 22 JCV DNA- positive samples and in 3 additional tumor samples which appeared DNA-negative by PCR. Conclusions: These results suggest an association of JCV with a subpopulation of Tunisian colorectal tumors.

Keywords: colorectal cancer, immunohistochemistry, Polyomavirus JC, PCR

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4165 Development of a Multi-Locus DNA Metabarcoding Method for Endangered Animal Species Identification

Authors: Meimei Shi

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Objectives: The identification of endangered species, especially simultaneous detection of multiple species in complex samples, plays a critical role in alleged wildlife crime incidents and prevents illegal trade. This study was to develop a multi-locus DNA metabarcoding method for endangered animal species identification. Methods: Several pairs of universal primers were designed according to the mitochondria conserved gene regions. Experimental mixtures were artificially prepared by mixing well-defined species, including endangered species, e.g., forest musk, bear, tiger, pangolin, and sika deer. The artificial samples were prepared with 1-16 well-characterized species at 1% to 100% DNA concentrations. After multiplex-PCR amplification and parameter modification, the amplified products were analyzed by capillary electrophoresis and used for NGS library preparation. The DNA metabarcoding was carried out based on Illumina MiSeq amplicon sequencing. The data was processed with quality trimming, reads filtering, and OTU clustering; representative sequences were blasted using BLASTn. Results: According to the parameter modification and multiplex-PCR amplification results, five primer sets targeting COI, Cytb, 12S, and 16S, respectively, were selected as the NGS library amplification primer panel. High-throughput sequencing data analysis showed that the established multi-locus DNA metabarcoding method was sensitive and could accurately identify all species in artificial mixtures, including endangered animal species Moschus berezovskii, Ursus thibetanus, Panthera tigris, Manis pentadactyla, Cervus nippon at 1% (DNA concentration). In conclusion, the established species identification method provides technical support for customs and forensic scientists to prevent the illegal trade of endangered animals and their products.

Keywords: DNA metabarcoding, endangered animal species, mitochondria nucleic acid, multi-locus

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4164 Highly Realistic Facial Expressions of Anthropomorphic Social Agent as a Factor in Solving the 'Uncanny Valley' Problem

Authors: Daniia Nigmatullina, Vlada Kugurakova, Maxim Talanov

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We present a methodology and our plans of anthropomorphic social agent visualization. That includes creation of three-dimensional model of the virtual companion's head and its facial expressions. Talking Head is a cross-disciplinary project of developing of the human-machine interface with cognitive functions. During the creation of a realistic humanoid robot or a character, there might be the ‘uncanny valley’ problem. We think about this phenomenon and its possible causes. We are going to overcome the ‘uncanny valley’ by increasing of realism. This article discusses issues that should be considered when creating highly realistic characters (particularly the head), their facial expressions and speech visualization.

Keywords: anthropomorphic social agent, facial animation, uncanny valley, visualization, 3D modeling

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4163 The Internet of Things Ecosystem: Survey of the Current Landscape, Identity Relationship Management, Multifactor Authentication Mechanisms, and Underlying Protocols

Authors: Nazli W. Hardy

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A critical component in the Internet of Things (IoT) ecosystem is the need for secure and appropriate transmission, processing, and storage of the data. Our current forms of authentication, and identity and access management do not suffice because they are not designed to service cohesive, integrated, interconnected devices, and service applications. The seemingly endless opportunities of IoT are in fact circumscribed on multiple levels by concerns such as trust, privacy, security, loss of control, and related issues. This paper considers multi-factor authentication (MFA) mechanisms and cohesive identity relationship management (IRM) standards. It also surveys messaging protocols that are appropriate for the IoT ecosystem.

Keywords: identity relation management, multifactor authentication, protocols, survey of internet of things ecosystem

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4162 Provisional Settlements and Urban Resilience: The Transformation of Refugee Camps into Cities

Authors: Hind Alshoubaki

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The world is now confronting a widespread urban phenomenon: refugee camps, which have mostly been established in ‘rushing mode,’ pointing toward affording temporary settlements for refugees that provide them with minimum levels of safety, security and protection from harsh weather conditions within a very short time period. In fact, those emergency settlements are transforming into permanent ones since time is a decisive factor in terms of construction and camps’ age. These play an essential role in transforming their temporary character into a permanent one that generates deep modifications to the city’s territorial structure, shaping a new identity and creating a contentious change in the city’s form and history. To achieve a better understanding for the transformation of refugee camps, this study is based on a mixed-methods approach: the qualitative approach explores different refugee camps and analyzes their transformation process in terms of population density and the changes to the city’s territorial structure and urban features. The quantitative approach employs a statistical regression analysis as a reliable prediction of refugees’ satisfaction within the Zaatari camp in order to predict its future transformation. Obviously, refugees’ perceptions of their current conditions will affect their satisfaction, which plays an essential role in transforming emergency settlements into permanent cities over time. The test basically discusses five main themes: the access and readiness of schools, the dispersion of clinics and shopping centers; the camp infrastructure, the construction materials, and the street networks. The statistical analysis showed that Syrian refugees were not satisfied with their current conditions inside the Zaatari refugee camp and that they had started implementing changes according to their needs, desires, and aspirations because they are conscious about the fact of their prolonged stay in this settlement. Also, the case study analyses showed that neglecting the fact that construction takes time leads settlements being created with below-minimum standards that are deteriorating and creating ‘slums,’ which lead to increased crime rates, suicide, drug use and diseases and deeply affect cities’ urban tissues. For this reason, recognizing the ‘temporary-eternal’ character of those settlements is the fundamental concept to consider refugee camps from the beginning as definite permanent cities. This is the key factor to minimize the trauma of displacement on both refugees and the hosting countries. Since providing emergency settlements within a short time period does not mean using temporary materials, having a provisional character or creating ‘makeshift cities.’

Keywords: refugee, refugee camp, temporary, Zaatari

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4161 Surface Functionalized Biodegradable Polymersome for Targeted Drug Delivery

Authors: Susmita Roy, Madhavan Nallani

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In recent years' polymersomes, self-assembled polymeric vesicles emerge from block copolymers, have been widely investigated due to their enhance stability and unique advantageous properties compared to their phospholipid counterpart, liposomes, dendrimers, and micelles. It provides a distinctive platform for advanced therapeutics and the creation of complex (bio) catalytically active systems for research in Nanomedicine and synthetic biology. Inspired by nature, where compartmentalization of biological components is all ubiquitous, we are interested in developing a platform technology of self-assembled multifunctional compartments with applications in areas from targeted drug/gene delivery, biosensing, pharmaceutical to cosmetics. Polymersome surfaces can be a proper choice of derivatization with a controlled amount of functional groups. To achieve site-specific targeting of polymersomes, biological recognition motives can be attached to the polymersomes surface by standard bioconjugation techniques, (like esterification, amidation, thiol-maleimide coupling, click-chemistry routes or other coupling methods). Herein, we are developing easy going, one-step bioconjugation strategies for site-specific surface functionalized biodegradable polymeric and/or polymer-lipid hybrid vesicles for targeted drug delivery. Biodegradable polymer, polycaprolactone-b-polyethylene glycol (PCL-PEG), polylactic acid-b-polyethylene glycol (PLA-PEG) and phospholipid, 1-palmitoyl-2- oleoyl-sn-glycero-3-phosphocholine (POPC) has been widely used for numerous vesicle formulations. Some of these drug-loaded formulations are being tested on mice for controlled release. These surface functionalized polymersomes are also appropriate for membrane protein reconstitution/insertion, antibodies conjugation and various bioconjugation with diverse targeted molecules for controlled drug delivery.

Keywords: drug delivery, membrane protein, polymersome, surface modification

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4160 Investigating The Use Of Socially Assistive Robots To Support Learner Engagement For Students With Learning Disabilities In One-to-one Instructional Settings

Authors: Jennifer Fane, Mike Gray, Melissa Sager

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Children with diagnosed or suspected learning disabilities frequently experience significant skill gaps in foundational learning areas such as reading, writing, and math. Remedial one-to-one instruction is a highly effective means of supporting children with learning differences in building these foundational skills and closing the learning gap between them and their same-age peers. However, due to the learning challenges children with learning disabilities face, and ensuing challenges with self-confidence, many children with learning differences struggle with motivation and self-regulation within remedial one-to-one learning environments - despite the benefits of these sessions. Socially Assistive Robots (SARs) are an innovative educational technology tool that has been trialled in a range of educational settings to support diverse learning needs. Yet, little is known about the impact of SARs on the learning of children with learning differences in a one-to-one remedial instructional setting. This study sought to explore the impact of SARs on the engagement of children (n=9) with learning differences attending one-to-one remedial instruction sessions at a non-profit remedial education provider. The study used a mixed-methods design to explore learner engagement during learning tasks both with and without the use of a SAR to investigate how the use of SARs impacts student learning. The study took place over five weeks, with each session within the study followed the same procedure with the SAR acting as a teaching assistant when in use. Data from the study included analysis of time-sample video segments of the instructional sessions, instructor recorded information about the student’s progress towards their session learning goal and student self-reported mood and energy levels before and after the session. Analysis of the findings indicates that the use of SARs resulted in fewer instances of off-task behaviour and less need for instructor re-direction during learning tasks, allowing students to work in more sustained ways towards their learning goals. This initial research indicates that the use of SARs does have a material and measurable impact on learner engagement for children with learning differences and that further exploration of the impact of SARs during one-to-one remedial instruction is warranted.

Keywords: engagement, learning differences, learning disabilities, instruction, social robotics.

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4159 Aberrant Genome‐Wide DNA Methylation Profiles of Peripheral Blood Mononuclear Cells from Patients Hospitalized with COVID-19

Authors: Inam Ridha, Christine L. Kuryla, Madhuranga Thilakasiri Madugoda Ralalage Don, Norman J. Kleiman, Yunro Chung, Jin Park, Vel Murugan, Joshua LaBaer

Abstract:

To date, more than 275 million people worldwide have been diagnosed with COVID-19 and the rapid spread of the omicron variant suggests many millions more will soon become infected. Many infections are asymptomatic, while others result in mild to moderate illness. Unfortunately, some infected individuals exhibit more serious symptoms including respiratory distress, thrombosis, cardiovascular disease, multi-organ failure, cognitive difficulties, and, in roughly 2% of cases, death. Studies indicate other coronaviruses can alter the host cell's epigenetic profile and lead to alterations in the immune response. To better understand the mechanism(s) by which SARS-CoV-2 infection causes serious illness, DNA methylation profiles in peripheral blood mononuclear cells (PBMCs) from 90 hospitalized severely ill COVID-19 patients were compared to profiles from uninfected control subjects. Exploratory epigenome-wide DNA methylation analyses were performed using multiplexed methylated DNA immunoprecipitation (MeDIP) followed by pathway enrichment analysis. The findings demonstrated significant DNA methylation changes in infected individuals as compared to uninfected controls. Pathway analysis indicated that apoptosis, cell cycle control, Toll-like receptors (TLR), cytokine interactions, and T cell differentiation were among the most affected metabolic processes. In addition, changes in specific gene methylation were compared to SARS-CoV-2 induced changes in RNA expression using published RNA-seq data from 3 patients with severe COVID-19. These findings demonstrate significant correlations between differentially methylated and differentially expressed genes in a number of critical pathways.

Keywords: COVID19, epigenetics, DNA mathylation, viral infection

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4158 Smuggling of Migrants as an Influential Factor on National Security, Economic and Social Life

Authors: Jordan Georgiev Deliversky

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Human trafficking and smuggling of migrants are criminal activities, which are on the rise over recent years. The number of legal migrants arrived in Europe from outside the European Union are far less than those who want to come and settle in Europe. The objective of this paper is to present the impact on economic and social life of significant measures influencing the smuggling of migrants. The analysis is focused on various complex factors which have multiple origins and are highly influential as regard to the process of migration and the smuggling of migrants. The smuggling of migrants is a criminal activity, directly related to migration. The main results show that often the routes chosen for smuggling of migrants are circuitous, as smugglers carefully avoid strictly controlled roads, checkpoints, and countries or jurisdictions where there is efficiency of justice, with particular emphasis on the law on trafficking of persons and smuggling of migrants.

Keywords: corruption, migration, security, smuggling

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4157 Comparative Forensic Analysis of Lipsticks Using Thin Layer Chromatography and Gas Chromatography

Authors: M. O. Ezegbogu, H. B. Osadolor

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Lipsticks constitute a significant source of transfer evidence, and can, therefore, provide corroborative or inclusionary evidence in criminal investigation. This study aimed to determine the uniqueness and persistence of different lipstick smears using Thin Layer Chromatography (TLC), and Gas Chromatography with a Flame Ionisation Detector (GC-FID). In this study, we analysed lipstick smears retrieved from tea cups exposed to the environment for up to four weeks. The n-alkane content of each sample was determined using GC-FID, while TLC was used to determine the number of bands, and retention factor of each band per smear. This study shows that TLC gives more consistent results over a 4-week period than GC-FID. It also proposes a maximum exposure time of two weeks for the analysis of lipsticks left in the open using GC-FID. Finally, we conclude that neither TLC nor GC-FID can distinguish lipstick evidence recovered from hypothetical crime scenes.

Keywords: forensic science, chromatography, identification, lipstick

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4156 In vitro and vivo Studies for Assessing the Anti-Proliferative, Anti-Migration and Apoptotic Activity of A. squamosa L. Leaves Extract

Authors: Rawan Al-Nemari, Abdulrahman Al-Senaidy, Abdelhabib Semlali

Abstract:

Background and objectives: The most common cause of death in women worldwide is breast cancer. Regarding all chemotherapy disadvantages and side effects, it’s becoming necessary to identify natural products that target cancer cells with lesser harmful side effects on non-targeted cells and biological environment. Different parts of A. squamosa L., commonly known as custard apple, show varied therapeutic effects. The objective of this study is to investigate in vitro and in vivo, the anti-cancer activity of A. squamosa leaves extract. Methods: The physiological responses using MTT, nucleus staining, and LDH assays were used to evaluate cell survival and proliferation in both ER+ and ER- cells when they were exposed to extract. Monolayer wound repair assay was used to investigate the effect of extracts on cell migration. Apoptotic gene’s expression was investigated by real-time polymerase chain reaction. To study the effect of the extract on the size of tumor, breast cancer induced rats were used. Results: A. squamosa leaves extract showed high anti-proliferative and cytotoxicity effects against different breast cancer cell lines with high concentration, 100 ug/ml. The extracts have reduced the cells wound closure. Polymerase chain reaction revealed downregulation of Bcl-2 and upregulation of Bax. In breast cancer model animal developed in our laboratory, after 4 weeks treatment, treated groups have shown smaller tumor size in comparison with control group (n=4). Conclusion: These results suggest that A. squamosa leaves extract has anti-cancer activity against breast cancer in both in vitro and in vivo, and it may be developed as a potential novel agent to treat breast cancer.

Keywords: apoptosis, breast cancer, migration, proliferation

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4155 Useful Characteristics of Pleurotus Mushroom Hybrids

Authors: Suvalux Chaichuchote, Ratchadaporn Thonghem

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Pleurotus mushroom is one of popular edible mushrooms in Thailand. It is much favored by consumers due to its delicious taste and high nutrition. It is commonly used as an ingredient in several dishes. The commercially cultivated strain grown in most farms is the Pleurotus sp., Hed Bhutan, that is widely distributed to mushroom farms throughout the country and can be cultivated almost all year round. However, it demands different cultivated strains from mushroom growers, therefore, the improving mushroom strains should be done to their benefits. In this study, we used a di-mon mating method to hybrid production from Hed Bhutan (P-3) as dikaryon material and monokaryotic mycelium were isolated from basidiospores of other three Pleurotus sp. by single spore isolation. The 3 hybrids: P-3XSA-6, P-3XSB-24 and P-3XSE-5 were recognized from the 12 hybridized successfully. They were appropriate hybridized in terms of fruiting body performance in the three time cycles of cultivation such as the number of days until growing, time for pinning, color and shape of fruiting bodies and yield. For genetic study, genomic DNAs of both Hed Bhutan (P-3) and three hybrids were extracted. A couple of primer ITS1 and ITS4 were used to amplify the gene coding for ITS1, ITS2 and 5.8S rRNA. The similarities between these amplified genes and databases of DNA revealed that Hed Bhutan (P-3) was the Pleurotus pulmonarius as well as P-3XSA-6, P-3XSB-24 and P-3XSE-5 hybrids. Furthermore, Hed Bhutan (P3) and three hybrids were distributed to 3 small-scale farms, with mushroom farming experience, in the countryside. To address this, one hundred and twenty mushroom bags of each strain were supplied to them. The findings, by interview, indicated two mushroom farmers were satisfied with P-3XSA-6 hybrid and P-3XSB-24 hybrid, thanks to their simultaneous fruiting time and good yield. While the other was satisfied with P-3XSB-24 hybrid due to its good yield and P-3XSE-5 hybrids thanks to its gradually fruiting body, benefiting in frequent harvest. Overall, farmers adopted all hybrids to grow as commercially cultivated strains as well as Hed Bhutan (P-3) strain.

Keywords: dikaryon, monokaryon, pleurotus, strain improvement

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4154 Reservoir-Triggered Seismicity of Water Level Variation in the Lake Aswan

Authors: Abdel-Monem Sayed Mohamed

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Lake Aswan is one of the largest man-made reservoirs in the world. The reservoir began to fill in 1964 and the level rose gradually, with annual irrigation cycles, until it reached a maximum water level of 181.5 m in November 1999, with a capacity of 160 km3. The filling of such large reservoir changes the stress system either through increasing vertical compressional stress by loading and/or increased pore pressure through the decrease of the effective normal stress. The resulted effect on fault zones changes stability depending strongly on the orientation of pre-existing stress and geometry of the reservoir/fault system. The main earthquake occurred on November 14, 1981, with magnitude 5.5. This event occurred after 17 years of the reservoir began to fill, along the active part of the Kalabsha fault and located not far from the High Dam. Numerous of small earthquakes follow this earthquake and continue till now. For this reason, 13 seismograph stations (radio-telemetry network short-period seismometers) were installed around the northern part of Lake Aswan. The main purpose of the network is to monitor the earthquake activity continuously within Aswan region. The data described here are obtained from the continuous record of earthquake activity and lake-water level variation through the period from 1982 to 2015. The seismicity is concentrated in the Kalabsha area, where there is an intersection of the easterly trending Kalabsha fault with the northerly trending faults. The earthquake foci are distributed in two seismic zones, shallow and deep in the crust. Shallow events have focal depths of less than 12 km while deep events extend from 12 to 28 km. Correlation between the seismicity and the water level variation in the lake provides great suggestion to distinguish the micro-earthquakes, particularly, those in shallow seismic zone in the reservoir–triggered seismicity category. The water loading is one factor from several factors, as an activating medium in triggering earthquakes. The common factors for all cases of induced seismicity seem to be the presence of specific geological conditions, the tectonic setting and water loading. The role of the water loading is as a supplementary source of earthquake events. So, the earthquake activity in the area originated tectonically (ML ≥ 4) and the water factor works as an activating medium in triggering small earthquakes (ML ≤ 3). Study of the inducing seismicity from the water level variation in Aswan Lake is of great importance and play great roles necessity for the safety of the High Dam body and its economic resources.

Keywords: Aswan lake, Aswan seismic network, seismicity, water level variation

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4153 First-Trimester Screening of Preeclampsia in a Routine Care

Authors: Tamar Grdzelishvili, Zaza Sinauridze

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Introduction: Preeclampsia is a complication of the second trimester of pregnancy, which is characterized by high morbidity and multiorgan damage. Many complex pathogenic mechanisms are now implicated to be responsible for this disease (1). Preeclampsia is one of the leading causes of maternal mortality worldwide. Statistics are enough to convince you of the seriousness of this pathology: about 100,000 women die of preeclampsia every year. It occurs in 3-14% (varies significantly depending on racial origin or ethnicity and geographical region) of pregnant women, in 75% of cases - in a mild form, and in 25% - in a severe form. During severe pre-eclampsia-eclampsia, perinatal mortality increases by 5 times and stillbirth by 9.6 times. Considering that the only way to treat the disease is to end the pregnancy, the main thing is timely diagnosis and prevention of the disease. Identification of high-risk pregnant women for PE and giving prophylaxis would reduce the incidence of preterm PE. First-trimester screening model developed by the Fetal Medicine Foundation (FMF), which uses the Bayes-theorem to combine maternal characteristics and medical history together with measurements of mean arterial pressure, uterine artery pulsatility index, and serum placental growth factor, has been proven to be effective and have superior screening performance to that of traditional risk factor-based approach for the prediction of PE (2) Methods: Retrospective single center screening study. The study population consisted of women from the Tbilisi maternity hospital “Pineo medical ecosystem” who met the following criteria: they spoke Georgian, English, or Russian and agreed to participate in the study after discussing informed consent and answering questions. Prior to the study, the informed consent forms approved by the Institutional Review Board were obtained from the study subjects. Early assessment of preeclampsia was performed between 11-13 weeks of pregnancy. The following were evaluated: anamnesis, dopplerography of the uterine artery, mean arterial blood pressure, and biochemical parameter: Pregnancy-associated plasma protein A (PAPP-A). Individual risk assessment was performed with performed by Fast Screen 3.0 software ThermoFisher scientific. Results: A total of 513 women were recruited and through the study, 51 women were diagnosed with preeclampsia (34.5% in the pregnant women with high risk, 6.5% in the pregnant women with low risk; P<0.000 1). Conclusions: First-trimester screening combining maternal factors with uterine artery Doppler, blood pressure, and pregnancy-associated plasma protein-A is useful to predict PE in a routine care setting. More patient studies are needed for final conclusions. The research is still ongoing.

Keywords: first-trimester, preeclampsia, screening, pregnancy-associated plasma protein

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4152 Outcome-Based Education as Mediator of the Effect of Blended Learning on the Student Performance in Statistics

Authors: Restituto I. Rodelas

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The higher education has adopted the outcomes-based education from K-12. In this approach, the teacher uses any teaching and learning strategies that enable the students to achieve the learning outcomes. The students may be required to exert more effort and figure things out on their own. Hence, outcomes-based students are assumed to be more responsible and more capable of applying the knowledge learned. Another approach that the higher education in the Philippines is starting to adopt from other countries is blended learning. This combination of classroom and fully online instruction and learning is expected to be more effective. Participating in the online sessions, however, is entirely up to the students. Thus, the effect of blended learning on the performance of students in Statistics may be mediated by outcomes-based education. If there is a significant positive mediating effect, then blended learning can be optimized by integrating outcomes-based education. In this study, the sample will consist of four blended learning Statistics classes at Jose Rizal University in the second semester of AY 2015–2016. Two of these classes will be assigned randomly to the experimental group that will be handled using outcomes-based education. The two classes in the control group will be handled using the traditional lecture approach. Prior to the discussion of the first topic, a pre-test will be administered. The same test will be given as posttest after the last topic is covered. In order to establish equality of the groups’ initial knowledge, single factor ANOVA of the pretest scores will be performed. Single factor ANOVA of the posttest-pretest score differences will also be conducted to compare the performance of the experimental and control groups. When a significant difference is obtained in any of these ANOVAs, post hoc analysis will be done using Tukey's honestly significant difference test (HSD). Mediating effect will be evaluated using correlation and regression analyses. The groups’ initial knowledge are equal when the result of pretest scores ANOVA is not significant. If the result of score differences ANOVA is significant and the post hoc test indicates that the classes in the experimental group have significantly different scores from those in the control group, then outcomes-based education has a positive effect. Let blended learning be the independent variable (IV), outcomes-based education be the mediating variable (MV), and score difference be the dependent variable (DV). There is mediating effect when the following requirements are satisfied: significant correlation of IV to DV, significant correlation of IV to MV, significant relationship of MV to DV when both IV and MV are predictors in a regression model, and the absolute value of the coefficient of IV as sole predictor is larger than that when both IV and MV are predictors. With a positive mediating effect of outcomes-base education on the effect of blended learning on student performance, it will be recommended to integrate outcomes-based education into blended learning. This will yield the best learning results.

Keywords: outcome-based teaching, blended learning, face-to-face, student-centered

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4151 Correlations between Folate, Homocysteine Levels, and Markers of Brain Atrophy in Elderly Male and Female Rats

Authors: Fatimah A. Alhomaid, Nadia H. Mahmoud, Maha A. Al-Qaraawi

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The present study was designed to induce hyperhomocysteinemia (HHcy) in elderly male and female rats. Also,to evaluate, the effect of (HHcy) as a risk factor for cerebrovascular disease and brain atrophy and folate supplementation on serum levels of Hcy, total cholesterol, low density lipoprotein cholesterol (LDLc), high density lipoprotein cholesterol (HDLc), triglycerides, pyridoxal phosphate , folate also, histopathological examination of brain and cerebrovascular vessels In this work 50 male and 50 female elderly albino rats were used and divided into five groups. The first group served as control, the second and third group received two different dose of L-methionine, the fourth and fifth group received fortified diet with folate powder plus L-methionine. Our results showed that homocysteine levels in male and female rats that received low and high dose of methionine were higher than in the control group, while the levels of folate significantly decreased in male rats only. Induced hyperhomocysteinemia in elderly male and female rats led to significant increase in serum level of cholesterol, LDLc and triglycerides but serum level of HDLc were significantly lower in methionine treated male and female rats than in control. Our results showed that a strong positive correlation between all these parameters and homocysteine except HDLc levels which correlate negatively to Hcy levels. Administration of folate to methionine treated male rats led to insignificant changes in the level of cholesterol when compared to control group but this level was found to be significantly decrease in female rats received small dose of methionine. When the level of cholesterol compared to the same dose of methionine treated group we found a significant decrease in both male and female rats. LDLc and triglycerides level significantly decrease in male rats only versus the control rats, while when compared to low and high dose of methionine a significant decreased occurs. A significant increase in serum level of HDLc in male and female rats when compared to both control and methionine treated groups. In male and female rats supplemented with folate we found an increased serum levels of folate when compared to rats received both dose of methionine. The levels of pyridoxal phosphate significantly decreased in all treated rats compared to the control group and its level were increased with supplementation of folate versus the rats received small and large dose of methionine. It can be concluded that hyperhomocysteinemia may be an additional risk factor for cerebrovascular atherosclesosis and brain atrophy in elderly people and diatery supplementation with folate blocking the activity of homocysteine and may be considered as a therapeutic possibility.

Keywords: hyperhomocysteinemia, brain atrophy, cerebrovascular, L-methionine, pyridoxal phosphate

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4150 The Experiences and Needs of Mothers’ of Children With Cancer in Coping With the Child's Disease

Authors: Maarja Karbus, Elsbet Lippmaa, Kadri Kööp, Mare Tupits

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Aim: The aim is to describe the experiences and needs of mothers of children with cancer in coping with the child's illness. Background: Cancer affects different life areas. Especially if it is a child, in this case the whole family is involved. Loved ones are mentally affected, there are limitations, and life changes need to be made to make the whole treatment regimen and recovery as comfortable as possible. Also, the whole process is expensive and time consuming. The research is part of a larger project that covers the experiences and needs of parents of children with chronic illness and coping strategies related to the child's illness. Design: Qualitative, empirical, descriptive research. Method: Semi-structured interviews were used to collect data and inductive content analysis was used to analyze the data. The interviews were conducted in the autumn of 2020, 5 respondents participated in the research. Results and Conclusions: The research revealed that the mothers' experiences of coping with a child's disease included health-related experiences, material aspects, changes in lifestyle, support systems and contact with professionals. Regarding the organizational and material aspects of life, the subjects presented experiences with economic problems, adaptation of changes in lifestyle, access to information and changes in the treatment process. With regard to health, the respondents identified experiences with the mother's physical and mental health and experiences with the health of an ill child. The experience of different support systems was related to the support of family, friends, acquaintances, various organizations and specialists. Experiences with specialist support included experiences with family relationships and positive and negatiive experiences with staff. The mothers' needs in dealing with the child's disease included the mother's emotional needs, the support of other family members, and the need for various support systems and services. The needs of coping with the child were the need for understanding, support, confidence, the need to be strong and courageous, the need to ignore one's own needs, and the need for personal time and rest. The needs of other family members included the needs of an ill child and the need to pay attention to other children in the family. The needs of different supporters and services were related to different helpers and different services.

Keywords: cancer, mother, coping, child, need, experience, illness

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4149 Helicobacter Pylori Detection by Invasive and Noninvasive Diagnostic Tests from Dyspepsia Patients

Authors: Muhammad Suhail Ibrahim, Ahmad Mujtaba

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Background: The accuracy of the most frequently used tests for diagnosing Helicobacter pylori is always under consideration in clinical settings. A reliable diagnosis is crucial to confirm the success of therapy. Objective: The aim of this research was to study the isolation frequency of H. pylori from patients compatible with gastritis or gastric ulcer and to compare some feasible non-invasive and invasive methods for the diagnosis of infection. Materials and Methods: Ninety-six gastric biopsy and blood samples were obtained with various gastroduodenal symptoms after obtaining informed consent. The biopsies were analyzed and compared using the culture, microscopic examination, histopathology, Rapid urease RUT), serology, biochemical, antibiotic susceptibility test and molecular method. Results: A number of 40 (41.67%) were considered H. pylori positive in both histopathology and RUT. On the other hand, 46 patients were positive against anti IgA and IgG by ELISA. Eighteen biopsies were positive according to the culture test. This was further confirmed by endoscopic examination, urease, catalase and oxidase tests. A high percentage of resistance to polymyxin B, amoxicillin, and kanamycin was observed (100, 88.89, and 77.78%, respectively). A gene (Cag A) was also detected by using molecular technique which appeared positive in 16 patients. The sensitivity/specificity (%) of diagnostic method was 95/77 for histology, 100/83.5 for rapid urease, 85.7/90 for gram staining, 100/66.6 for IgG serology, 100/79.5 for IgA serology, 100/75.0 for PCR, 100/79.04 for combination of RUT and IgG serology and 100/92.4 for combination of RUT, gram staining and IgG serology. Conclusion: In view of the result obtained, PCR appeared to be the most reliable test. However, higher sensitivity and specificity were also recorded for other tests. So, for more accurate results, it is advisable not to rely solely on a single method for detection.

Keywords: helicobacter pylori, isolation, detection, culture, urease, polymerase chain reaction, antibiotic susceptibility test, dyspeptic patients

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4148 Gravitrap for Surveillance of Mosquito Density in Kaohsiung

Authors: Meng-Yu Tsai, Jui-hun Chang, Wen-Feng Hung, Jing-Dong Chou

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The objective of this paper was to use gravitrap to survey the mosquito density in Kaohsiung. Gravitrap is one of the tools for surveillance the mosquito density. Gravitrap not only monitor the mosquito density but also decrease the mosquito density. Kaohsiung Environment Protection Bureau (KEPB) used gravitrap to monitor the mosquito density in 2016. KEPB put gravitrap in five districts which had the more confirmed dengue cases in 2015. The results indicated that (1)the highest positive rate (PR) of gravitrap was in Gushan district, the PR of gravitrap in Gushan district was 19.25%. (2) the lowest PR of gravitrap was in Sanmin district, the PR of gravitrap in Sanmin district was 8.55%. (3) compared these two districts, the most important factor to influence of PR of gravitrap was the knowledge of dengue prevention. Therefore, the PR of gravitrap was one of the references for making dengue prevention policy.

Keywords: continuous assessment, course integration, curricular reform, student feedback

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4147 A Case Study of Latinx Parents’ Perceptions of Gifted Education

Authors: Yelba Maria Carrillo

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The focus of this research study was to explore barriers, if any, faced by parents or legal guardians who are of Latinx background and speak Spanish as a primary language or are bilingual speakers of Spanish and English; barriers that limit their understanding of and involvement in their gifted child’s academic life. This study was guided by a qualitative case study design. The primary investigator hosted focus group interviews at a Magnet Middle School in Southern California. The groups consisted of 25 parents, or legal guardians of bilingual (English/Spanish) or former English learner students enrolled in a school serving 6th-8th grades. The primary investigator interviewed Latinx Spanish-speaking parents or legal guardians of gifted students regarding their perception of their child’s giftedness, parental involvement in schools, and fostering their child’s exceptional abilities. Parents and legal guardians described children as creative, intellectual, and highly intelligent. Key themes such as student performance, language proficiency, socio-emotional, and general intellectual ability were strong indicators of giftedness. Barriers such as language and education inhibited parent and legal guardian ability to understand their child’s giftedness, which resulted in their inability to adequately contribute to the development of their children’s talents and advocate for the appropriate services for their children. However, they recognized the importance of being involved in their child’s academic life and the importance of nurturing their ‘dón’ or ‘gift.’ La Familia is the foundation and core of Latinx culture; and, without a strong foundation, children lack guidance, confidence, and awareness to tap into their gifted abilities. Providing Latinx parents with the proper tools and resources to appropriately identify gifted characteristics and traits could lead to early identification and intervention for students in schools and at home.

Keywords: gifted education, gifted Latino students, Latino parent involvement, high ability students

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4146 The Effectiveness of Concept Mapping as a Tool for Developing Critical Thinking in Undergraduate Medical Education: A BEME Systematic Review: BEME Guide No. 81

Authors: Marta Fonseca, Pedro Marvão, Beatriz Oliveira, Bruno Heleno, Pedro Carreiro-Martins, Nuno Neuparth, António Rendas

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Background: Concept maps (CMs) visually represent hierarchical connections among related ideas. They foster logical organization and clarify idea relationships, potentially aiding medical students in critical thinking (to think clearly and rationally about what to do or what to believe). However, there are inconsistent claims about the use of CMs in undergraduate medical education. Our three research questions are: 1) What studies have been published on concept mapping in undergraduate medical education? 2) What was the impact of CMs on students’ critical thinking? 3) How and why have these interventions had an educational impact? Methods: Eight databases were systematically searched (plus a manual and an additional search were conducted). After eliminating duplicate entries, titles, and abstracts, and full-texts were independently screened by two authors. Data extraction and quality assessment of the studies were independently performed by two authors. Qualitative and quantitative data were integrated using mixed-methods. The results were reported using the structured approach to the reporting in healthcare education of evidence synthesis statement and BEME guidance. Results: Thirty-nine studies were included from 26 journals (19 quantitative, 8 qualitative and 12 mixed-methods studies). CMs were considered as a tool to promote critical thinking, both in the perception of students and tutors, as well as in assessing students’ knowledge and/or skills. In addition to their role as facilitators of knowledge integration and critical thinking, CMs were considered both teaching and learning methods. Conclusions: CMs are teaching and learning tools which seem to help medical students develop critical thinking. This is due to the flexibility of the tool as a facilitator of knowledge integration, as a learning and teaching method. The wide range of contexts, purposes, and variations in how CMs and instruments to assess critical thinking are used increase our confidence that the positive effects are consistent.

Keywords: concept map, medical education, undergraduate, critical thinking, meaningful learning

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4145 Screening of the Genes FOLH1 and MTHFR among the Mothers of Congenital Neural Tube Defected Babies in West Bengal, India

Authors: Silpita Paul, Susanta Sadhukhan, Biswanath Maity, Madhusudan Das

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Neural tube defects (NTDs) are one of the most common forms of birth defect and affect ~300,000 new born worldwide each year. The prevalence is higher in Northern India (11 per 1000 birth) compare to southern India (5 per 1000 birth). NTDs are one of the common birth defects related with low blood folate and Hcy concentration. Though the mechanism is still unknown, but it is now established that, NTDs in human are polygenic in nature and follow the heterogeneous trait. In spite of its heterogeneity, polymorphism in few genes affects significantly the trait of NTDs. Polymorphisms in the genes FOLH1 and MTHFR plays important role in NTDs. In this study, the polymorphisms of these genes were screened by bi-directional sequencing from 30 mothers with NTD babies as case. The result revealed that 26.67% patients had bi-allelic FOLH1 polymorphism. The polymorphism has been identified as p.Y60H and frequent to cause NTDs. The study of MTHFR gene showed 2 different SNPs rs1801131 (at exon 4) and rs1801131 (at exon 7). The study showed 6.67% patients of both mono- and bi-allelic MTHFR-rs1801131 polymorphism and 6.67% patients of bi-allelic MTHFR-rs1801131 polymorphism. These polymorphisms has been responsible for p.A222V and p.E429A change respectively and frequently involved in NTD formation. Those polymorphisms affect mainly the absorption of dietary folate from intestine and the formation of 5-methylenetetrahydrofolate (5 MTHF) from 5,10-methylenetetrahydrofolate (5,10- MTHF), which is the functional folate form in our system. Though the study is not complete yet, but these polymorphisms play crucial roles in the formation of NTDs in other world population. Based on the result till date, it can be concluded that they also play significant role in our population too as in control samples we have not found any changes.

Keywords: neural tube defects, polymorphism, FOLH1, MTHFR

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