Search results for: intellectual and developmental disabilities

Authors: Xingyu Gao, Qiang Wu, Yuanyuan Liu, Yue Yang

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In the era of the knowledge economy, the relationship between scientific knowledge and patents has garnered significant attention. Understanding the intricate interplay between the foundations of science and technological innovation has emerged as a pivotal challenge for both researchers and policymakers. This study establishes a coupled network of artificial intelligence patents based on co-cited scientific papers. Leveraging centrality metrics from network analysis offers a fresh perspective on understanding the influence of information flow and knowledge sharing within the network on patent impact. The study initially obtained patent numbers for 446,890 granted US AI patents from the United States Patent and Trademark Office’s artificial intelligence patent database for the years 2002-2020. Subsequently, specific information regarding these patents was acquired using the Lens patent retrieval platform. Additionally, a search and deduplication process was performed on scientific non-patent references (SNPRs) using the Web of Science database, resulting in the selection of 184,603 patents that cited 37,467 unique SNPRs. Finally, this study constructs a coupled network comprising 59,379 artificial intelligence patents by utilizing scientific papers co-cited in patent backward citations. In this network, nodes represent patents, and if patents reference the same scientific papers, connections are established between them, serving as edges within the network. Nodes and edges collectively constitute the patent coupling network. Structural characteristics such as node degree centrality, betweenness centrality, and closeness centrality are employed to assess the scientific connections between patents, while citation count is utilized as a quantitative metric for patent influence. Finally, a negative binomial model is employed to test the nonlinear relationship between these network structural features and patent influence. The research findings indicate that network structural features such as node degree centrality, betweenness centrality, and closeness centrality exhibit inverted U-shaped relationships with patent influence. Specifically, as these centrality metrics increase, patent influence initially shows an upward trend, but once these features reach a certain threshold, patent influence starts to decline. This discovery suggests that moderate network centrality is beneficial for enhancing patent influence, while excessively high centrality may have a detrimental effect on patent influence. This finding offers crucial insights for policymakers, emphasizing the importance of encouraging moderate knowledge flow and sharing to promote innovation when formulating technology policies. It suggests that in certain situations, data sharing and integration can contribute to innovation. Consequently, policymakers can take measures to promote data-sharing policies, such as open data initiatives, to facilitate the flow of knowledge and the generation of innovation. Additionally, governments and relevant agencies can achieve broader knowledge dissemination by supporting collaborative research projects, adjusting intellectual property policies to enhance flexibility, or nurturing technology entrepreneurship ecosystems.

Keywords: centrality, patent coupling network, patent influence, social network analysis

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Authors: M. Soubadra Devy, Savitha Swamy, Chethana V. Casiker

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Sustainable smart cities are emerging as an important concept in response to the exponential rise in the world’s urbanizing population. While earlier, only technical, economic and governance based solutions were considered, more and more layers are being added in recent times. With the prefix of 'sustainability', solutions which help in judicious use of resources without negatively impacting the environment have become critical. We present a case study of Bangalore city which has transformed from being a garden city and pensioners' paradise to being an IT city with a huge, young population from different regions and diverse cultural backgrounds. This has had a big impact on the green spaces in the city and the biodiversity that they support, as well as on farming/gardening practices. Edible landscapes comprising farms lands, home gardens and neighbourhood parks (NPs henceforth) were examined. The land prices of areas having NPs were higher than those that did not indicate an appreciation of their aesthetic value. NPs were part of old and new residential areas largely managed by the municipality. They comprised manicured gardens which were similar in vegetation structure and composition. Results showed that NPs that occurred in higher density supported reasonable levels of biodiversity. In situations where NPs occurred in lower density, the presence of a larger green space such as a heritage park or botanical garden enhanced the biodiversity of these parks. In contrast, farm lands and home gardens which were common within the city are being lost at an unprecedented scale to developmental projects. However, there is also the emergence of a 'neo-culture' of home-gardening that promotes 'locovory' or consumption of locally grown food as a means to a sustainable living and reduced carbon footprint. This movement overcomes the space constraint by using vertical and terrace gardening techniques. Food that is grown within cities comprises of vegetables and fruits which are largely pollinator dependent. This goes hand in hand with our landscape-level study that has shown that cities support pollinator diversity. Maintaining and improving these man-made ecosystems requires analysing the functioning and characteristics of the existing structures of governance. Social network analysis tool was applied to NPs to examine relationships, between actors and ties. The management structures around NPs, gaps, and means to strengthen the networks from the current state to a near-ideal state were identified for enhanced services. Learnings from NPs were used to build a hypothetical governance structure and functioning of integrated governance of NPs and edible landscapes to enhance ecosystem services such as biodiversity support, food production, and aesthetic value. They also contribute to the sustainability axis of smart cities.

Keywords: biodiversity support, ecosystem services, edible green spaces, neighbourhood parks, sustainable smart city

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Authors: Shirley S. Ho, Alisius X. L. D. Leong, Jiemin Looi, Agnes S. F. Chuah

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Nuclear energy is a contentious technology that has attracted much public debate over the years. The prominence of nuclear energy in Southeast Asia (SEA) has burgeoned due to the surge of interest and plans for nuclear development in the region. Understanding public perceptions of nuclear energy in SEA is pertinent given the limited number of studies conducted. In particular, five SEA nations – Singapore, Malaysia, Indonesia, Thailand, and Vietnam are of immediate interest as that they are amongst the most economically developed or developing nations in the SEA region. High energy demands from economic development in these nations have led to considerations of adopting nuclear energy as an alternative source of energy. This study aims to explore whether differences in the nuclear developmental stage in each country affects public perceptions of nuclear energy. In addition, this study seeks to find out about the type and importance of communication credibility as a judgement heuristic in facilitating message acceptance across these five countries. Credibility of a communication channel is a crucial component influencing public perception, acceptance, and attitudes towards nuclear energy. Aside from simply identifying the frequently used communication channels, it is of greater significance to understand public perception of source and media credibility. Given the lack of studies conducted in SEA, this exploratory study adopts a qualitative approach to elicit a spectrum of opinions and insights regarding the key communication aspects influencing public perceptions of nuclear energy. Specifically, the capitals of each of the abovementioned countries - Kuala Lumpur, Bangkok, and Hanoi - were selected, with the exception of Singapore, an island city-state, and Yogyakarta, the most populous island of Indonesia to better understand public perception towards nuclear energy. Focus group discussions were utilized as the mode of data collection to elicit a wide variety of viewpoints held by the participants, which is well-suited for exploratory research. In total, 156 participants took part in the 13 focus group discussions. The participants were either local citizens or permanent residents aged between 18 and 69 years old. Each of the focus groups consists of 8-10 participants, including both male and female participants. The transcripts from each focus group were analysed using NVivo 10, and the text was organised according to the emerging themes or categories. The general public in all the countries was familiar but had no in-depth knowledge with nuclear energy. Four dimensions of nuclear energy communication were identified based on the focus group discussions: communication channels, perceived credibility of sources, circumstances for discussion, and discussion style. The first dimension, communication channels refers to the medium through which participants receive information about nuclear energy. Four types of media emerged from the discussions. They included online and social media, broadcast media, print media, and word-of- mouth (WOM). Collectively, across all five countries, participants were found to engage in different types of knowledge acquisition and information seeking behavior depending on the communication channels used.

Keywords: nuclear energy, public perception, communication, Southeast Asia, source credibility

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Authors: Vangmayee. V. Subban, Somashekara H. S, Shwetha Prabhu, Jayashree S. Bhat

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Introduction and Need: Phonological processing is critical in learning to read alphabetical and non-alphabetical languages. However, its role in learning to read Kannada an alphasyllabary is equivocal. The literature has focused on the developmental role of phonological awareness on reading. To the best of authors knowledge, the role of phonological memory and phonological naming has not been addressed in alphasyllabary Kannada language. Therefore, there is a need to evaluate the comprehensive role of the phonological processing skills in Kannada on word decoding skills during the early years of schooling. Aim and Objectives: The present study aimed to explore the phonological processing abilities and their role in learning to decode pseudowords in children learning to read the Kannada language during initial years of formal schooling between 5.6 to 8.6 years. Method: In this cross sectional study, 60 typically developing Kannada speaking children, 20 each from Grade I, Grade II, and Grade III between the age range of 5.6 to 6.6 years, 6.7 to 7.6 years and 7.7 to 8.6 years respectively were selected from Kannada medium schools. Phonological processing abilities were assessed using an assessment tool specifically developed to address the objectives of the present research. The assessment tool was content validated by subject experts and had good inter and intra-subject reliability. Phonological awareness was assessed at syllable level using syllable segmentation, blending, and syllable stripping at initial, medial and final position. Phonological memory was assessed using pseudoword repetition task and phonological naming was assessed using rapid automatized naming of objects. Both phonological awareneness and phonological memory measures were scored for the accuracy of the response, whereas Rapid Automatized Naming (RAN) was scored for total naming speed. Results: The mean scores comparison using one-way ANOVA revealed a significant difference (p ≤ 0.05) between the groups on all the measures of phonological awareness, pseudoword repetition, rapid automatized naming, and pseudoword reading. Subsequent post-hoc grade wise comparison using Bonferroni test revealed significant differences (p ≤ 0.05) between each of the grades for all the tasks except (p ≥ 0.05) for syllable blending, syllable stripping, and pseudoword repetition between Grade II and Grade III. The Pearson correlations revealed a highly significant positive correlation (p=0.000) between all the variables except phonological naming which had significant negative correlations. However, the correlation co-efficient was higher for phonological awareness measures compared to others. Hence, phonological awareness was chosen a first independent variable to enter in the hierarchical regression equation followed by rapid automatized naming and finally, pseudoword repetition. The regression analysis revealed syllable awareness as a single most significant predictor of pseudoword reading by explaining the unique variance of 74% and there was no significant change in R² when RAN and pseudoword repetition were added subsequently to the regression equation. Conclusion: Present study concluded that syllable awareness matures completely by Grade II, whereas the phonological memory and phonological naming continue to develop beyond Grade III. Amongst phonological processing skills, phonological awareness, especially syllable awareness is crucial for word decoding than phonological memory and naming during initial years of schooling.

Keywords: phonological awareness, phonological memory, phonological naming, phonological processing, pseudo-word decoding

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Authors: Kyoung Lee

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Numerous aerobic bacteria have the ability to form multicellular communities on the surface layer of the air-liquid (A-L) interface as a biofilm called a pellicle. Pellicles occupied at the A-L interface will benefit from the utilization of oxygen from air and nutrient from liquid. Buoyancy of cells can be obtained by high surface tension at the A-L interface. Thus, formation of pellicles is an adaptive advantage in utilization of excess nutrients in the standing culture where oxygen depletion is easily set up due to rapid cell growth. In natural environments, pellicles are commonly observed on the surface of lake or pond contaminated with pollutants. Previously, we have shown that when cultured in standing LB media an alkylphenol-degrading bacteria Pseudomonas alkylphenolia KL28 forms pellicles in a diameter of 0.3-0.5 mm with a thickness of ca 40 µm. The pellicles have unique features for possessing flatness and unusual rigidity. In this study, the biogenesis of the circular pellicles has been investigated by observing the cell organization at early stages of pellicle formation and cell arrangements in pellicle, providing a clue for highly organized cellular arrangement to be adapted to the air-liquid niche. Here, we first monitored developmental patterns of pellicle from monolayer to multicellular organization. Pellicles were shaped by controlled growth of constituent cells which accumulate extracellular polymeric substance. The initial two-dimensional growth was transited to multilayers by a constraint force of accumulated self-produced extracellular polymeric substance. Experiments showed that pellicles are formed by clonal growth and even with knock-out of genes for flagella and pilus formation. In contrast, the mutants in the epm gene cluster for alginate-like polymer biosynthesis were incompetent in cell alignment for initial two-dimensional growth of pellicles. Electron microscopic and confocal laser scanning microscopic studies showed that the fully matured structures are highly packed by matrix-encased cells which have special arrangements. The cells on the surface of the pellicle lie relatively flat and inside longitudinally cross packed. HPLC analysis of the extrapolysaccharide (EPS) hydrolysate from the colonies from LB agar showed a composition with L-fucose, L-rhamnose, D-galactosamine, D-glucosamine, D-galactose, D-glucose, D-mannose. However, that from pellicles showed similar neutral and amino sugar profile but missing galactose. Furthermore, uronic acid analysis of EPS hydrolysates by HPLC showed that mannuronic acid was detected from pellicles not from colonies, indicating the epm-derived polymer is critical for pellicle formation as proved by the epm mutants. This study verified that for the circular pellicle architecture P. alkylphenolica KL28 cells utilized EPS building blocks different from that used for colony construction. These results indicate that P. alkylphenolica KL28 is a clever architect that dictates unique cell arrangements with selected EPS matrix material to construct sophisticated building, circular biofilm pellicles.

Keywords: biofilm, matrix, pellicle, pseudomonas

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Authors: Sharon Millen, Sarah Miller, Laura Dunne, Clare McGeady, Laura Neeson

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This paper presents the findings from a randomised controlled trial (RCT) and process evaluation of the Lifestart parenting programme. Lifestart is a structured child-centred programme of information and practical activity for parents of children aged from birth to five years of age. It is delivered to parents in their own homes by trained, paid family visitors and it is offered to parents regardless of their social, economic or other circumstances. The RCT evaluated the effectiveness of the programme and the process evaluation documented programme delivery and included a qualitative exploration of parent and child outcomes. 424 parents and children participated in the RCT: 216 in the intervention group and 208 in the control group across the island of Ireland. Parent outcomes included: parental knowledge of child development, parental efficacy, stress, social support, parenting skills and embeddedness in the community. Child outcomes included cognitive, language and motor development and social-emotional and behavioural development. Both groups were tested at baseline (when children were less than 1 year old), mid-point (aged 3) and at post-test (aged 5). Data were collected during a home visit, which took two hours. The process evaluation consisted of interviews with parents (n=16 at baseline and end-point), and focus groups with Lifestart Coordinators (n=9) and Family Visitors (n=24). Quantitative findings from the RCT indicated that, compared to the control group, parents who received the Lifestart programme reported reduced parenting-related stress, increased knowledge of their child’s development, and improved confidence in their parenting role. These changes were statistically significant and consistent with the hypothesised pathway of change depicted in the logic model. There was no evidence of any change in parents’ embeddedness in the community. Although four of the five child outcomes showed small positive change for children who took part in the programme, these were not statistically significant and there is no evidence that the programme improves child cognitive and non-cognitive skills by immediate post-test. The qualitative process evaluation highlighted important challenges related to conducting trials of this magnitude and design in the general population. Parents reported that a key incentive to take part in study was receiving feedback from the developmental assessment, which formed part of the data collection. This highlights the potential importance of appropriate incentives in relation to recruitment and retention of participants. The interviews with intervention parents indicated that one of the first changes they experienced as a result of the Lifestart programme was increased knowledge and confidence in their parenting ability. The outcomes and pathways perceived by parents and described in the interviews are also consistent with the findings of the RCT and the theory of change underpinning the programme. This hypothesises that improvement in parental outcomes, arising as a consequence of the programme, mediate the change in child outcomes. Parents receiving the Lifestart programme reported great satisfaction with and commitment to the programme, with the role of the Family Visitor being identified as one of the key components of the programme.

Keywords: parent-child relationship, parental self-efficacy, parental stress, school readiness

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Authors: Ntandazo Dlatu, Benjamin Longo-Mbenza, Andre Renzaho, Ruffin Appalata, Yolande Yvonne Valeria Matoumona Mavoungou, Mbenza Ben Longo, Kenneth Ekoru, Blaise Makoso, Gedeon Longo Longo

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Background: The gap between complexities related to the integration of Tuberculosis /HIV control and evidence-based knowledge motivated the initiation of the study. Therefore, the objective of this study was to explore correlations between national TB management guidelines, multiple deprivation indexes, quantiles, components and levels of Tuberculosis control programme using mathematical modeling in rural O.R. Tambo District Health Facilities, South Africa. Methods: The study design used mixed secondary data analysis and cross-sectional analysis between 2009 and 2013 across O.R Tambo District, Eastern Cape, South Africa using univariate/ bivariate analysis, linear multiple regression models, and multivariate discriminant analysis. Health inequalities indicators and component of an impediment to the tuberculosis control programme were evaluated. Results: In total, 62 400 records for TB notification were analyzed for the period 2009-2013. There was a significant but negative between Financial Year Expenditure (r= -0.894; P= 0.041) Seropositive HIV status(r= -0.979; P= 0.004), Population Density (r = -0.881; P= 0.048) and the number of TB defaulter in all TB cases. It was shown unsuccessful control of TB management program through correlations between numbers of new PTB smear positive, TB defaulter new smear-positive, TB failure all TB, Pulmonary Tuberculosis case finding index and deprivation-concentration-dispersion index. It was shown successful TB program control through significant and negative associations between declining numbers of death in co-infection of HIV and TB, TB deaths all TB and SMIAD gradient/ deprivation-concentration-dispersion index. The multivariate linear model was summarized by unadjusted r of 96%, adjusted R2 of 95 %, Standard Error of estimate of 0.110, R2 changed of 0.959 and significance for variance change for P=0.004 to explain the prediction of TB defaulter in all TB with equation y= 8.558-0.979 x number of HIV seropositive. After adjusting for confounding factors (PTB case finding the index, TB defaulter new smear-positive, TB death in all TB, TB defaulter all TB, and TB failure in all TB). The HIV and TB death, as well as new PTB smear positive, were identified as the most important, significant, and independent indicator to discriminate most deprived deprivation index far from other deprivation quintiles 2-5 using discriminant analysis. Conclusion: Elimination of poverty such as overcrowding, lack of sanitation and environment of highest burden of HIV might end the TB threat in O.R Tambo District, Eastern Cape, South Africa. Furthermore, ongoing adequate budget comprehensive, holistic and collaborative initiative towards Sustainable Developmental Goals (SDGs) is necessary for complete elimination of TB in poor O.R Tambo District.

Keywords: tuberculosis, HIV/AIDS, success, failure, control program, health inequalities, South Africa

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Authors: Liou Shyhnan, Chia Han Yang

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The study aims to investigate the promotion of innovation in the development of cultural and creative industries (CCI) and apply research on culture and creativity to this promotion. Using the research perspectives of culture and creativity as the starting points, this study has examined the challenges, trends, and opportunities that have emerged from the development of the CCI until the present. It is found that a definite context of cause and effect exist between them, and that a homologous theoretical basis can be used to understand and interpret them. Based on the characteristics of the aforementioned challenges and trends, this study has compiled two main theoretical systems for conducting research on culture and creativity: (i) reciprocal process between creativity and culture, and (ii) a mechanism for innovation involving multicultural convergence. Both theoretical systems were then used as the foundation to arrive at possible research propositions relating to the two developmental systems. This was respectively done through identification of the theoretical context through a literature review, and interviews and observations of actual case studies within Taiwan’s CCI. In so doing, the critical factors that can address the aforementioned challenges and trends were discovered. Our results indicated that, for reciprocal process between creativity and culture, we recognize that culture serves as creative resources in cultural and creative industries. According to shared consensus, culture provides symbolic meanings and emotional attachment for products and experiences offered by CCI. Besides, different cultures vary in their effects on creativity processes and standards, thus engendering distinctive preferences for and evaluations of the creative expressions and experiences of CCIs. In addition, we identify that creativity serves as the engine for driving the continuation and rebirth of cultures. Accounting for the core of culture, the employment of technology, design, and business facilitates the transformation and innovation mechanism for promoting culture continuity. In addition, with cultural centered, the digital technology, design thinking, and business model are critical constitutes of the innovation mechanism to promote the cultural continuity. Regarding cultural preservation and regeneration of local spaces and folk customs, we argue that the preservation and regeneration of local spaces and cultural cultures must embody the interactive experiences of present-day life. And cultural space and folk custom would regenerate with interact and experience in modern life. Regarding innovation mechanism for multicultural convergence, we propose that innovative stakeholders from different disciplines (e.g., creators, designers, engineers, and marketers) in CCIs rely on the establishment of a cocreation mechanism to promote interdisciplinary interaction. Furthermore, CCI development needs to develop a cocreation mechanism for enhancing the interdisciplinary collaboration among CCI innovation stakeholders. We further argue multicultural mixing would enhance innovation in developing CCI, and assuming an open and mutually enlightening attitude to enrich one another’s cultures in the multicultural exchanges under globalization will create diversity in homogenous CCIs. Finally, for promoting innovation in developing cultural and creative industries, we further propose a model for joint knowledge creation that can be established for enhancing the mutual reinforcement of theoretical and practical research on culture and creativity.

Keywords: culture and creativity, innovation, cultural and creative industries, cultural mixing

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Authors: Maximilian Elsen, Frank Tietze

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The development and diffusion of green technologies are crucial for achieving our ambitious climate targets. The Paris Agreement commits its members to develop strategies for achieving net zero greenhouse gas emissions by the second half of the century. Governments, executives, and academics are working on net-zero strategies and the business of rating organisations on their environmental, social and governance (ESG) performance has grown tremendously in its public interest. ESG data is now commonly integrated into traditional investment analysis and an important factor in investment decisions. Creating these metrics, however, is inherently challenging as environmental and social impacts are hard to measure and uniform requirements on ESG reporting are lacking. ESG metrics are often incomplete and inconsistent as they lack fully accepted reporting standards and are often of qualitative nature. This study explores the use of patent data for assessing the environmental performance of companies by focusing on their patented inventions in the space of climate change mitigation and adaptation technologies (CCMAT). The present study builds on the successful identification of CCMAT patents. In this context, the study adopts the Y02 patent classification, a fully cross-sectional tagging scheme that is fully incorporated in the Cooperative Patent Classification (CPC), to identify Climate Change Adaptation Technologies. The Y02 classification was jointly developed by the European Patent Office (EPO) and the United States Patent and Trademark Office (USPTO) and provides means to examine technologies in the field of mitigation and adaptation to climate change across relevant technologies. This paper develops sustainability-related metrics for firm-level patent portfolios. We do so by adopting a three-step approach. First, we identify relevant CCMAT patents based on their classification as Y02 CPC patents. Second, we examine the technological strength of the identified CCMAT patents by including more traditional metrics from the field of patent analytics while considering their relevance in the space of CCMAT. Such metrics include, among others, the number of forward citations a patent receives, as well as the backward citations and the size of the focal patent family. Third, we conduct our analysis on a firm level by sector for a sample of companies from different industries and compare the derived sustainability performance metrics with the firms’ environmental and financial performance based on carbon emissions and revenue data. The main outcome of this research is the development of sustainability-related metrics for firm-level environmental performance based on patent data. This research has the potential to complement existing ESG metrics from an innovation perspective by focusing on the environmental performance of companies and putting them into perspective to conventional financial performance metrics. We further provide insights into the environmental performance of companies on a sector level. This study has implications of both academic and practical nature. Academically, it contributes to the research on eco-innovation and the literature on innovation and intellectual property (IP). Practically, the study has implications for policymakers by deriving meaningful insights into the environmental performance from an innovation and IP perspective. Such metrics are further relevant for investors and potentially complement existing ESG data.

Keywords: climate change mitigation, innovation, patent portfolios, sustainability

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Authors: Xingyu Gao, Qiang Wu

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Patents play a crucial role in protecting innovation and intellectual property. Early prediction of the impact of artificial intelligence (AI) patents helps researchers and companies allocate resources and make better decisions. Understanding the key factors that influence patent impact can assist researchers in gaining a better understanding of the evolution of AI technology and innovation trends. Therefore, identifying highly impactful patents early and providing support for them holds immeasurable value in accelerating technological progress, reducing research and development costs, and mitigating market positioning risks. Despite the extensive research on AI patents, accurately predicting their early impact remains a challenge. Traditional methods often consider only single factors or simple combinations, failing to comprehensively and accurately reflect the actual impact of patents. This paper utilized the artificial intelligence patent database from the United States Patent and Trademark Office and the Len.org patent retrieval platform to obtain specific information on 35,708 AI patents. Using six machine learning models, namely Multiple Linear Regression, Random Forest Regression, XGBoost Regression, LightGBM Regression, Support Vector Machine Regression, and K-Nearest Neighbors Regression, and using early indicators of patents as features, the paper comprehensively predicted the impact of patents from three aspects: technical, social, and economic. These aspects include the technical leadership of patents, the number of citations they receive, and their shared value. The SHAP (Shapley Additive exPlanations) metric was used to explain the predictions of the best model, quantifying the contribution of each feature to the model's predictions. The experimental results on the AI patent dataset indicate that, for all three target variables, LightGBM regression shows the best predictive performance. Specifically, patent novelty has the greatest impact on predicting the technical impact of patents and has a positive effect. Additionally, the number of owners, the number of backward citations, and the number of independent claims are all crucial and have a positive influence on predicting technical impact. In predicting the social impact of patents, the number of applicants is considered the most critical input variable, but it has a negative impact on social impact. At the same time, the number of independent claims, the number of owners, and the number of backward citations are also important predictive factors, and they have a positive effect on social impact. For predicting the economic impact of patents, the number of independent claims is considered the most important factor and has a positive impact on economic impact. The number of owners, the number of sibling countries or regions, and the size of the extended patent family also have a positive influence on economic impact. The study primarily relies on data from the United States Patent and Trademark Office for artificial intelligence patents. Future research could consider more comprehensive data sources, including artificial intelligence patent data, from a global perspective. While the study takes into account various factors, there may still be other important features not considered. In the future, factors such as patent implementation and market applications may be considered as they could have an impact on the influence of patents.

Keywords: patent influence, interpretable machine learning, predictive models, SHAP

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Authors: Kate Allman, Heather Maranges, Elise Dykhuis

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Moral Growth Mindset (MGM) is the belief that one has the capacity to become a more moral person, as opposed to a fixed conception of one’s moral ability and capacity (Han et al., 2018). Building from Dweck’s work in incremental implicit theories of intelligence (2008), Moral Growth Mindset (Han et al., 2020) extends growth mindsets into the moral dimension. The concept of MGM has the potential to help researchers understand how both mindsets and interventions can impact character development, and it has even been shown to have connections to voluntary service engagement (Han et al., 2018). Understanding the contexts in which MGM might be cultivated could help to promote the further cultivation of character, in addition to prosocial behaviors like service engagement, which may, in turn, promote larger scale engagement in social justice-oriented thoughts, feelings, and behaviors. In particular, college may be a place to intentionally cultivate a growth mindset toward moral capacities, given the unique developmental and maturational components of the college experience, including contextual opportunity (Lapsley & Narvaez, 2006) and independence requiring the constant consideration, revision, and internalization of personal values (Lapsley & Woodbury, 2016). In a semester-long, quasi-experimental study, we examined the impact of a pedagogical approach designed to cultivate college student character development on participants’ MGM. With an intervention (n=69) and a control group (n=97; Pre-course: 27% Men; 66% Women; 68% White; 18% Asian; 2% Black; <1% Hispanic/Latino), we investigated whether college courses that intentionally incorporate character education pedagogy (Lamb, Brant, Brooks, 2021) affect a variety of psychosocial variables associated with moral thoughts, feelings, identity, and behavior (e.g. moral growth mindset, honesty, compassion, etc.). The intervention group consisted of 69 undergraduate students (Pre-course: 40% Men; 52% Women; 68% White; 10.5% Black; 7.4% Asian; 4.2% Hispanic/Latino) that voluntarily enrolled in five undergraduate courses that encouraged students to engage with key concepts and methods of character development through the application of research-based strategies and personal reflection on goals and experiences. Moral Growth Mindset was measured using the four-item Moral Growth Mindset scale (Han et al., 2020), with items such as You can improve your basic morals and character considerably on a six-point Likert scale from 1 (strongly disagree) to 6 (strongly agree). Higher scores of MGM indicate a stronger belief that one can become a more moral person with personal effort. Reliability at Time 1 was Cronbach’s ɑ= .833, and at Time 2 Cronbach’s ɑ= .772. An Analysis of Covariance (ANCOVA) was conducted to explore whether post-course MGM scores were different between the intervention and control when controlling for pre-course MGM scores. The ANCOVA indicated significant differences in MGM between groups post-course, F(1,163) = 8.073, p = .005, R² = .11, where descriptive statistics indicate that intervention scores were higher than the control group at post-course. Results indicate that intentional character development pedagogy can be leveraged to support the development of Moral Growth Mindset and related capacities in undergraduate settings.

Keywords: moral personality, character education, incremental theories of personality, growth mindset

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Authors: Negar Vkilbashi, Hassan Kabiri

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Modern diplomacy, in its general form, refers to the people and not the governments, and diplomacy tactics are more addressed to the people than to the governments. Media diplomacy and cyber diplomacy are also one of the sub-branches of public diplomacy and, in fact, the role of media in the process of influencing public opinion and directing foreign policy. Mass media, including written, radio and television, theater, satellite, internet, and news agencies, transmit information and demands. What the Qatari government tried to implement in the countries of the region during the Arab Spring and after was through its important media, Al Jazeera. The embargo on Qatar began in 2017, when Saudi Arabia, the United Arab Emirates, Bahrain, and Egypt imposed a land, sea, and air blockade against the country. The media tool constitutes the cornerstone of soft power in the field of foreign policy, which Qatari leaders have consistently resorted to over the past two decades. Undoubtedly, the role it played in covering the events of the Arab Spring has created geopolitical tensions. The United Arab Emirates and other neighboring countries sometimes criticize Al Jazeera for providing a platform for the Muslim Brotherhood, Hamas, and other Islamists to promote their ideology. In 2011, at the same time as the Arab Spring, Al Jazeera reached the peak of its popularity. Al Jazeera's live coverage of protests in Tunisia, Egypt, Yemen, Libya, and Syria helped create a unified narrative of the Arab Spring, with audiences tuning in every Friday to watch simultaneous protests across the Middle East. Al Jazeera operates in three groups: First, it is a powerful base in the hands of the government so that it can direct and influence Arab public opinion. Therefore, this network has been able to benefit from the unlimited financial support of the Qatar government to promote its desired policies and culture. Second, it has provided an attractive platform for politicians and scientific and intellectual elites, thus attracting their support and defense from the government and its rulers. Third, during the last years of Prince Hamad's reign, the Al Jazeera network formed a deterrent weapon to counter the media and political struggle campaigns. The importance of the research is that this network covers a wide range of people in the Middle East and, therefore, has a high influence on the decision-making of countries. On the other hand, Al Jazeera is influential as a tool of public diplomacy and soft power in Qatar's foreign policy, and by studying it, the results of its effectiveness in the past years can be examined. Using a qualitative method, this research analyzes the impact of the media on the implementation of Qatar's foreign policy on the public opinion of the people of the Middle East. Data collection has been done by the secondary method, that is, reading related books, magazine articles, newspaper reports and articles, and analytical reports of think tanks. The most important findings of the research are that Al Jazeera plays an important role in Qatar's foreign policy in Qatar's public diplomacy. So that, in 2011, 2017 and 2023, it played an important role in Qatar's foreign policy in various crises. Also, the people of Arab countries use Al-Jazeera as their first reference.

Keywords: Al Jazeera, Qatar, media, diplomacy

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Authors: Michelle Eichinger, Upali Nanda

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Behavior choices during college years can establish the pattern of lifelong healthy living. Nearly 1/3rd of American college students are either overweight (25 < BMI < 30) or obese (BMI > 30). In addition, overweight/obesity contributes to depression, which is a rising epidemic among college students, affecting academic performance and college drop-out rates. Overweight and obesity result in an imbalance of energy consumption (diet) and energy expenditure (physical activity). Overweight/obesity is a significant contributor to heart disease, diabetes, stroke, physical disabilities and some cancers, which are the leading causes of death and disease in the US. There has been a significant increase in obesity and obesity-related disorders such as type 2 diabetes, hypertension, and dyslipidemia among people in their teens and 20s. Historically, the evidence-based interventions for obesity prevention focused on changing the health behavior at the individual level and aimed at increasing awareness and educating people about nutrition and physical activity. However, it became evident that the environmental context of where people live, work and learn was interdependent to healthy behavior change. As a result, a comprehensive approach was required to include altering the social and built environment to support healthy living. College campus provides opportunities to support lifestyle behavior and form a health-promoting culture based on some key point of decisions such as stairs/ elevator, walk/ bike/ car, high-caloric and fast foods/balanced and nutrient-rich foods etc. At each point of decision, design, can help/hinder the healthier choice. For example, stair well design and motivational signage support physical activity; grocery store/market proximity influence healthy eating etc. There is a need to collate the vast information that is in planning and public health domains on a range of successful point of decision prompts, and translate it into architectural guidelines that help define the edge condition for critical point of decision prompts. This research study aims to address healthy behaviors through the built environment with the questions, how can we make the healthy choice an easy choice through the design of critical point of decision prompts? Our hypothesis is that well-designed point of decision prompts in the built environment of college campuses can promote healthier choices by students, which can directly impact mental and physical health related to obesity. This presentation will introduce a combined health and architectural framework aimed to influence healthy behaviors through design applied for college campuses. The premise behind developing our concept, point-of-decision design (PODD), is healthy decision-making can be built into, or afforded by our physical environments. Using effective design intervention strategies at these 'points-of-decision' on college campuses to make the healthy decision the default decision can be instrumental in positively impacting health at the population level. With our model, we aim to advance health research by utilizing point-of-decision design to impact student health via core sectors of influences within college settings, such as campus facilities and transportation. We will demonstrate how these domains influence patterns/trends in healthy eating and active living behaviors among students. how these domains influence patterns/trends in healthy eating and active living behaviors among students.

Keywords: architecture and health promotion, college campus, design strategies, health in built environment

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Authors: Roberta Pecoraro, Elena Maria Scalisi

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Engineered Nanoparticles (ENPs) and Nanomaterials (ENMs) concern an active research area and a sector in full expansion. They have physical-chemical characteristics and small size that improve their performance compared to common materials. Due to the increase in their production and their subsequent release into the environment, new strategies are emerging to assess risk of nanomaterials. NPs can be released into the environment through aquatic systems by human activities and exert toxicity on living organisms. We evaluated the potential toxic effect of cerium oxide (CeO2) nanoparticles because it’s used in different fields due to its peculiar properties. In order to assess nanoparticles toxicity, Fish Embryo Toxicity (FET) test was performed. Powders of CeO2 NPs supplied by the CNR-IMM of Catania are indicated as CeO2 type 1 (as-prepared) and CeO2 type 2 (modified), while CeO2 type 3 (commercial) is supplied by Sigma-Aldrich. Starting from a stock solution (0.001g/10 ml dilution water) of each type of CeO2 NPs, the other concentration solutions were obtained adding 1 ml of the stock solution to 9 ml of dilution water, leading to three different solutions of concentration (10-4, 10-5, 10-6 g/ml). All the solutions have been sonicated to avoid natural tendency of NPs to aggregate and sediment. FET test was performed according to the OECD guidelines for testing chemicals using our internal protocol procedure. A number of eight selected fertilized eggs were placed in each becher filled with 5 ml of each concentration of the three types of CeO2 NPs; control samples were incubated only with dilution water. Replication was performed for each concentration. During the exposure period, we observed four endpoints (embryo coagulation, lack of formation of somites, failure to lift the yolk bag, no heartbeat) by a stereomicroscope every 24 hours. Immunohistochemical analysis on treated larvae was performed to evaluate the expression of metallothioneins (MTs), Heat Shock Proteins 70 (HSP70) and 7-ethoxyresorufin-O-diethylase (EROD). Our results have not shown evident alterations on embryonic development because all embryos completed the development and the hatching of the eggs, started around the 48th hour after exposure, took place within the last observation at 72 hours. A good reactivity, both in the embryos and in the newly hatched larvae, was found. The presence of heartbeat has also been observed in embryos with reduced mobility confirming their viability. A higher expression of EROD biomarker was observed in the larvae exposed to the three types of CeO2, showing a clear difference with the control. A weak positivity was found for MTs biomarker in treated larvae as well as in the control. HSP70 are expressed homogeneously in all the type of nanoparticles tested but not too much greater than control. Our results are in agreement with other studies in the literature, in which the exposure of Danio rerio larvae to other metal oxide nanoparticles does not show adverse effects on survival and hatching time. Further studies are necessary to clarify the role of these NPs and also to solve conflicting opinions.

Keywords: Danio rerio, endpoints, fish embryo toxicity test, metallic nanoparticles

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Authors: Khin Nyunt Yee, Mu Mu Thein

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Detection survey of mango seed and Pulp weevils was undertaken at major mango production areas, Yat Sauk, Taunggyi, Nyaung Shwe and Hopong Townships, in Shan State (South) of Myanmar on two mango cultivars of Sein Ta Lone and Yinkwe from May to August 2016 to coincide with fruiting season to conduct a survey of mango seed and pulp weevils population. The total numbers of 6300 fruits of both mango cultivars were sampled. Among them, 2900 fruits from 5674 fruit bearing plants were collected for Sein Ta Lone cultivar of five well managed, one unmanaged orchards and Urban in Yatsauk Twonship, 400 fruits from only one well managed orchard in Taunggyi Township, 400 fruits from two managed orchards in Nyaung Shwe Township and 400 fruits from one managed orchard in Hopong Township from May to June. 2200 fruits were collected from 4043 fruit bearing plants for Yinkwe Cultivar of four well managed orchards, one unmanaged orchards and one wild tree only in Yat Sauk Township from July to August, 2016. Fruit sample size was 200 fruits /orchard, / wild or /volunteer trees as minimum number. The pulps of all randomly sampling fruits were longitudinal cut open into three slices on each side of fruit and seed were cut longitudinally to inspect the presence of mango weevils. The collected weevils were identified up to species level at Plant Quarantine Laboratory, Plant Protection Division, Department of Agriculture, Ministry of Agriculture, Livestock and Irrigation, Yangon, Myanmar. Mango Pulp and Seed weevils were found on Sein Ta Lone Mango Cultivar in three out of four surveyed Townships except Hopong with the level of infestation ranged from 0.0% to 3.5% of fruits per Township with 0.0% to 39.0% of fruits per orchard. The highest infestation rate per township was 3.5% of fruits (n=400 fruits) in Nyaung Shwe, then, at Yat Suak, the rate was 2.47% (n=2900 fruits). A well-managed orchard at Taung Gyi had 0.75% (n=400 fruits) whereas Hopong was free 0.0% (n=400). The weevils were also recorded on Yinkwe Mango Cultivar in Yatsauk Township where the infestation level was 12.63% of fruits (n=2200) with 0.0% to 67.0% of fruits per orchard. This high level of infestation was obtained by including an absolutely non Integrated Pest Management (non IPM) orchards in both survey with the infestation rates 63.0% of fruits (n=200) and 67.0% of fruits (n=200) respectively on Yinkwe cultivar. Two different species; mango pulp weevil, Sternochetus frigitus, and mango seed weevil Sternochetus olivieri (Faust) of family Curculionidae under the order Coleoptera were recorded. Sternochetus mangiferae was not found during these surveys. Three different developmental stages of mango seed and pulp weevils: larva, pupa and adult were first detected since the first survey in 3rd week of May and mostly were recorded as adult stages in the following surveys in June, July and August The number of Mango pulp weevil was statistically higher than that of mango seed weevils at P < 0.001%. More precise surveys should be carried out national wide to detect the mango weevils.

Keywords: mango pulp weevil, Sternochetus frigitus, mango seed weevil Sternochetus olivieri, faust, Sternochetus mangiferae, fabricius, Sein Ta Lone, Yinkwe mango cultivars, Shan State (South) Myanmar

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Authors: Sonia Boscenco, Zihan Wang, Euclides José de Mendoça Filho, João Paulo Hoppe, Irina Pokhvisneva, Geoffrey B.C. Hall, Michael J. Meaney, Patricia Pelufo Silveira

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Entropy can be described as a measure of the number of states of a system, and when used in the context of physiological time-based signals, it serves as a measure of complexity. In functional connectivity data, entropy can account for the moment-to-moment variability that is neglected in traditional functional magnetic resonance imaging (fMRI) analyses. While brain fMRI resting state entropy has been associated with some pathological conditions like schizophrenia, no investigations have explored the association between brain entropy measures and individual differences in child behavior in healthy children. We describe a novel exploratory approach to evaluate brain fMRI resting state data in two child cohorts, and MAVAN (N=54, 4.5 years, 48% males) and GUSTO (N = 206, 4.5 years, 48% males) and its associations to child behavior, that can be used in future research in the context of child exposures and long-term health. Following rs-fMRI data pre-processing and Shannon entropy calculation across 32 network regions of interest to acquire 496 unique functional connections, partial correlation coefficient analysis adjusted for sex was performed to identify associations between entropy data and Strengths and Difficulties questionnaire in MAVAN and Child Behavior Checklist domains in GUSTO. Significance was set at p < 0.01, and we found eight significant associations in GUSTO. Negative associations were found between two frontoparietal regions and cerebellar posterior and oppositional defiant problems, (r = -0.212, p = 0.006) and (r = -0.200, p = 0.009). Positive associations were identified between somatic complaints and four default mode connections: salience insula (r = 0.202, p < 0.01), dorsal attention intraparietal sulcus (r = 0.231, p = 0.003), language inferior frontal gyrus (r = 0.207, p = 0.008) and language posterior superior temporal gyrus (r = 0.210, p = 0.008). Positive associations were also found between insula and frontoparietal connection and attention deficit / hyperactivity problems (r = 0.200, p < 0.01), and insula – default mode connection and pervasive developmental problems (r = 0.210, p = 0.007). In MAVAN, ten significant associations were identified. Two positive associations were found = with prosocial scores: the salience prefrontal cortex and dorsal attention connection (r = 0.474, p = 0.005) and the salience supramarginal gyrus and dorsal attention intraparietal sulcus (r = 0.447, p = 0.008). The insula and prefrontal connection were negatively associated with peer problems (r = -0.437, p < 0.01). Conduct problems were negatively associated with six separate connections, the left salience insula and right salience insula (r = -0.449, p = 0.008), left salience insula and right salience supramarginal gyrus (r = -0.512, p = 0.002), the default mode and visual network (r = -0.444, p = 0.009), dorsal attention and language network (r = -0.490, p = 0.003), and default mode and posterior parietal cortex (r = -0.546, p = 0.001). Entropy measures of resting state functional connectivity can be used to identify individual differences in brain function that are correlated with variation in behavioral problems in healthy children. Further studies applying this marker into the context of environmental exposures are warranted.

Keywords: child behaviour, functional connectivity, imaging, Shannon entropy

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Authors: A. Abdi, A. Abbasi Daloee, A. Barari

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Aim: The adaptations that occur in human body after doing exercises training are a factor to help healthy people stay away from certain diseases. One of the main adaptations is a change in blood circulation, especially in vessels. The increase of capillary density is dependent on the balance between angiogenic and angiostatic factors. Most studies show that the changes made to angiogenic developmental factors resulted from physical exercises indicate the low level of stimulators compared with inhibitors. It is believed that the plasma level of VEGF-A, the important angiogenic factor, is reduced after physical exercise. Findings indicate that the extract of crataegus plant reduces the platelet-derived growth factor receptor (PDGFR) autophosphorylation in human's fibroblast. More importantly, crataegus (1 to 100 mg in liter) clearly leads to the inhibition of PDGFR autophosphorylation in vascular smooth muscle cells (VSMCs). Angiogenesis is a process that can be classified into physiological and pathophysiological forms. collagen XVIII is a part of extracellular protein and heparan sulfate proteoglycans in vascular epithelial and endothelial basement membrane cause the release of endostatin from noncollagenous collagen XVIII. Endostatin inhibits the growth of endothelial cells, inhibits angiogenesis, weakens different types of cancer, and the growth of tumors. The purpose of the current study was to investigate the effect of intensive aerobic running with or without aqueous extraction of black Crataegus elbursensis on Collagen XVIII in male rats. Design: Thirty-two Wistar male rats (4-6 weeks old, 125-135 gr weight) were acquired from the Pasteur's Institute (Amol, Mazandaran), and randomly assigned into control (n = 16) and training (n = 16) groups. Rats were further divided into saline-control (SC) (n=8), saline-training (ST) (n=8), crataegus pentaegyna extraction -control (CPEC) (n=8), and crataegus pentaegyna extraction - training (CPET) (n=8). The control (SC and CPEC) groups remained sedentary; whereas the training groups underwent a high running exercise program. plasma were excised and immediately frozen in liquid nitrogen. Statistical analysis was performed using a one way analysis of variance and Tukey test. Significance was accepted at P = 0.05. Results: The results show that aerobic exercise group had the highest concentration collagen XVIII compared to other groups and then respectively black crataegus, training-crataegus and control groups. Conclusion: In general, researchers in this study concluded that the increase of collagen XVIII (albeit insignificant) as a result of physical activity and consumption of black crataegus extract could possibly serve as a regional inhibitor of angiogenesis and another evidence for the anti-cancer effects of physical activities. Since the research has not managed in this study to measure the amount of plasma endostatin, it is suggested that both indices are measured with important angiogenic factors so that we can have a more accurate interpretation of changes to angiogenic and angiostatic factors resulted from physical exercises.

Keywords: aerobic running, Crataegus elbursensis, Collagen XVIII

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Authors: Nancy A. Delich, Stephen D. Roberts

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This case study explores using self-efficacy theory in counseling deaf and hard of hearing students in one California school district. Self-efficacy is described as the confidence a student has for performing a set of skills required to succeed at a specific task. When students need to learn a skill, self-efficacy can be a major factor in influencing behavioral change. Self-efficacy is domain specific, meaning that students can have high confidence in their abilities to accomplish a task in one domain, while at the same time having low confidence in their abilities to accomplish another task in a different domain. The communication isolation experienced by deaf and hard of hearing children and adolescents can negatively impact their belief about their ability to navigate life challenges. There is a need to address issues that impact deaf and hard of hearing students’ social-emotional development. Failure to address these needs may result in depression, suicidal ideation, and anxiety among other mental health concerns. Self-efficacy training can be used to address these socio-emotional developmental issues with this population. Four sources of experiences are applied during an intervention: (a) enactive mastery experience, (b) vicarious experience, (c) verbal persuasion, and (d) physiological and affective states. This case study describes the use of self-efficacy training with a coed group of 12 deaf and hard of hearing high school students who experienced bullying at school. Beginning with enactive mastery experience, the counselor introduced the topic of bullying to the group. The counselor educated the students about the different types of bullying while teaching them the terminology, signs and their meanings. The most effective way to increase self-efficacy is through extensive practice. To better understand these concepts, the students practiced through role-playing with the goal of developing self-advocacy skills. Vicarious experience is the perception that students have about their capabilities. Viewing other students advocating for themselves, cognitively rehearsing what actions they will and will not take, and teaching each other how to stand up against bullying can strengthen their belief in successfully overcoming bullying. The third source of self-efficacy beliefs is verbal persuasion. It occurs when others express belief in the capabilities of the student. Didactic training and pedagogic materials on bullying were employed as part of the group counseling sessions. The fourth source of self-efficacy appraisals is physiological and affective states. Students expect positive emotions to be associated with successful skilled performance. When students practice new skills, the counselor can apply several strategies to enhance self-efficacy while reducing and controlling emotional and physical states. The intervention plan incorporated all four sources of self-efficacy training during several interactive group sessions regarding bullying. There was an increased understanding around the issues of bullying, resulting in the students’ belief of their ability to perform protective behaviors and deter future occurrences. The outcome of the intervention plan resulted in a reduction of reported bullying incidents. In conclusion, self-efficacy training can be an effective counseling and teaching strategy in addressing and enhancing the social-emotional functioning with deaf and hard of hearing adolescents.

Keywords: counseling, self-efficacy, bullying, social-emotional development, mental health, deaf and hard of hearing students

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Authors: Nils Haglund, Svenolof Dahlgren, Maria Rastam, Peik Gustafsson, Karin Kalien

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In Sweden, like in most developed countries, there is a substantial increase of children diagnosed with autism and other conditions within the autism spectrum (ASD). The rapid increase of ASD rates stresses the importance of developing care programs to provide support and comprehensive interventions for affected families. The current observational study was conducted in order to evaluate an ongoing Comprehensive Intensive Early Intervention (CIEI) program for children with autism in southern Sweden. The change in autism symptoms among children participating in CIEI (intervention group, n=67) was compared with children who received traditional habilitation services only (comparison group, n=27). Children of parents who accepted the offered CIEI-program, constituted the intervention group, whereas children, whose parents (for some reason) were not interested in the offered CIEI-program, constituted the comparison group. The CIEI-program was individualized to each child by experienced applied behavior analysis (ABA) specialists with different backgrounds as psychologists, speech pathologists or special education teachers, in cooperation with parents and preschool staff. Due to the individualization, the intervention could vary in intensity and techniques. The intensity was calculated to 15-25 hours each week at home and the preschool altogether. Each child was assigned one 'trainer', who was often employed as a preschool teacher but could have another educational background. An agreement between supervisor- parents and preschool staff was reached to confirm the intensity and content of the CIEI- program over an approximately two-year intervention period. Symptom changes were measured as evaluation-ADOS-2-scores, total- and severity-scores, minus the corresponding baseline-scores, divided by the time between baseline and evaluation. The difference between the study-groups regarding change of ADOS-2-scores was estimated using ANCOVA. In the current study, children in the CIEI-group improved their ADOS-2-total scores between baseline and evaluation (-0.8 scores per year; 95%CI: -1.2 to -0.4), whereas no such improvement was detected in the comparison group (+0.1 scores per year; 95%CI: -0.7 to +0.9). The change difference (change in the CIEI-group vs. change in the comparison group) was statistically significant, both crude and after adjusting for possible confounders (-1.1; 95%CI -1.9 to -0.4). Children in the CIEI-group also significantly improved their ADOS-calibrated severity scores, but not significantly differently so from the comparison group. The results from the current study indicate that the CIEI program significantly improves social and communicative skills among children with autism and that children with developmental delay could benefit to a similar degree as other children. The results support earlier studies reporting on the improvement of autism symptoms after early intensive interventions. The results from observational studies are difficult to interpret, but it is nevertheless of uttermost importance to evaluate costly autism intervention programs. Such results may be of immediate importance to healthcare organizations when allocating the already strained resources to different patient groups. Albeit the obvious limitation of the current naturalistic study, the results support previous positive studies and indicate that children with autism benefit from participating in early comprehensive, intensive programs and that investments in these programs may be highly justifiable.

Keywords: autism symptoms, ADOS-scores, evaluation, intervention program

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Authors: Zhenmin Tao, Jasper De Smet, Koen Laurijssen, Jeroen Stuyts, Sonja Sioncke

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Today, the quality of knowledge management (KM)become one of the underpinning factors in the success of an organization, as it determines the effectiveness of capitalizing the organization’s knowledge. Overall, KMin an organization consists of five aspects: (knowledge) creation, validation, presentation, distribution, and application. Among others, KM in research institutes is considered as the cornerstone as their activities cover all five aspects. Furthermore, KM in a research institute facilitates the steering committee to envision the future roadmap, identify knowledge gaps, and make decisions on future research directions. Likewise, KMis even more challenging in industrial research institutes. From a technical perspective, technology advancement in the past decades calls for combinations of breadth and depth in expertise that poses challenges in talent acquisition and, therefore, knowledge creation. From a regulatory perspective, the strict intellectual property protection from industry collaborators and/or the contractual agreements made by possible funding authoritiesform extra barriers to knowledge validation, presentation, and distribution. From a management perspective, seamless KM activities are only guaranteed by inter-disciplinary talents that combine technical background knowledge, management skills, and leadership, let alone international vision. From a financial perspective, the long feedback period of new knowledge, together with the massive upfront investment costs and low reusability of the fixed assets, lead to low RORC (return on research capital) that jeopardize KM practice. In this study, we aim to address the challenges, practices, and opportunitiesof KM in Flanders Make – a leading European research institute specialized in the manufacturing industry. In particular, the analyses encompass an internal KM project which involves functionalities ranging from management to technical domain experts. This wide range of functionalities provides comprehensive empirical evidence on the challenges and practices w.r.t.the abovementioned KMaspects. Then, we ground our analysis onto the critical dimensions ofKM–individuals, socio‐organizational processes, and technology. The analyses have three steps: First, we lay the foundation and define the environment of this study by briefing the KM roles played by different functionalities in Flanders Make. Second, we zoom in to the CoreLab MotionS where the KM project is located. In this step, given the technical domains covered by MotionS products, the challenges in KM will be addressed w.r.t. the five KM aspects and three critical dimensions. Third, by detailing the objectives, practices, results, and limitations of the MotionSKMproject, we justify the practices and opportunities derived in the execution ofKMw.r.t. the challenges addressed in the second step. The results of this study are twofold: First, a KM framework that consolidates past knowledge is developed. A library based on this framework can, therefore1) overlook past research output, 2) accelerate ongoing research activities, and 3) envision future research projects. Second, the challenges inKM on both individual (actions) level and socio-organizational level (e.g., interactions between individuals)are identified. By doing so, suggestions and guidelines will be provided in KM in the context of industrial research institute. To this end, the results in this study are reflected towards the findings in existing literature.

Keywords: technical knowledge management framework, industrial research institutes, individual knowledge management, socio-organizational knowledge management.

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Authors: Umara Nissar Rafiqi, Irum Gul, Nazima Nasrullah, Monica Saifi, Malik Z. Abdin

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Background: Stevia rebaudiana, a member of Asteraceae family is an important medicinal plant and produces a commercially used non-caloric natural sweetener, which is also an alternate herbal cure for diabetes. Steviol glycosides are the main sweetening compounds present in these plants. Secondary metabolites are crucial to the adaption of plants to the environment and its overcoming stress conditions. In agricultural procedures, the abiotic stresses like salinity, high metal toxicity and drought, in particular, are responsible for the majority of the reduction that differentiates yield potential from harvestable yield. Salt stress and heavy metal toxicity lead to increased production of reactive oxygen species (ROS). To avoid oxidative damage due to ROS and osmotic stress, plants have a system of anti-oxidant enzymes along with several stress induced enzymes. This helps in scavenging the ROS and relieve the osmotic stress in different cell compartments. However, whether stress induced toxicity modulates the activity of these enzymes in Stevia rebaudiana is poorly understood. Aim: The present study focussed on the effect of salinity, heavy metal toxicity (lead and mercury) on physiological traits and transcriptional profiling of Stevia rebaudiana. Method: Stevia rebaudiana plants were collected from the Central Institute of Medicinal and Aromatic plants (CIMAP), Patnagar, India and maintained under controlled conditions in a greenhouse at Hamdard University, Delhi, India. The plants were subjected to different concentrations of salt (0, 25, 50 and 75 mM respectively) and heavy metals, lead and mercury (0, 100, 200 and 300 µM respectively). The physiological traits such as shoot length, root numbers, leaf growth were evaluated. The samples were collected at different developmental stages and analysed for transcription profiling by RT-PCR. Transcriptional studies in stevia rebaudiana involves important antioxidant enzymes: catalase (CAT), superoxide dismutase (SOD), cytochrome P450 monooxygenase (CYP) and stress induced aquaporin (AQU), auxin repressed protein (ARP-1), Ndhc gene. The data was analysed using GraphPad Prism and expressed as mean ± SD. Result: Low salinity and lower metal toxicity did not affect the fresh weight of the plant. However, this was substantially decreased by 55% at high salinity and heavy metal treatment. With increasing salinity and heavy metal toxicity, the values of all studied physiological traits were significantly decreased. Chlorosis in treated plants was also observed which could be due to changes in Fe:Zn ratio. At low concentrations (upto 25 mM) of NaCl and heavy metals, we did not observe any significant difference in the gene expressions of treated plants compared to control plants. Interestingly, at high salt concentration and high metal toxicity, a significant increase in the expression profile of stress induced genes was observed in treated plants compared to control (p < 0.005). Conclusion: Stevia rebaudiana is tolerant to lower salt and heavy metal concentration. This study also suggests that with the increase in concentrations of salt and heavy metals, harvest yield of S. rebaudiana was hampered.

Keywords: Stevia rebaudiana, natural sweetener, salinity, heavy metal toxicity

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Authors: M. Petunia Tsweleng

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Statement of the Problem: Research and aid organisations report that children and adolescents orphaned due to HIV and AIDS are particularly vulnerable as they are often exposed to negative effects of both HIV and AIDS and orphanhood. Without much-needed parental love, care, and support, these children and adolescents are at risk of poor developmental outcomes. A cursory look at the available literature on AIDS-orphaned adolescents, and the quality of caregiving relationships with caregivers, shows that this is a relatively under-researched terrain. This article is a review of the literature on caregiving relationships of adolescents orphaned due to AIDS and their current primary caregivers. It aims to inform community programmes and policymakers by providing insight into the qualities of these relationships. Methodology: A comprehensive search of both peer-reviewed and non-peer-reviewed literature was conducted through EBSCOhost, SpringLINK, PsycINFO, SAGE, PubMed, Elsevier ScienceDirect, JSTOR, Wiley Online Library databases, and Google Scholar. The combination of keywords used for the search were: (caregiving relationships); (orphans OR AIDS orphaned children OR AIDS orphaned adolescents); (primary caregivers); and (quality caregiving); (orphans); (HIV and AIDS). The search took place between 24 January and 28 February 2022. Both qualitative and quantitative research studies published between 2010 and 2020 were reviewed. However, only qualitative studies were selected in the end -as they presented more profound findings concerning orphan-caregiver relationships. The following three stages of meta-synthesis analysis were used to analyse data: refutational syntheses, reciprocal syntheses, and line of argument. Results: The search resulted in a total of 2090 titles, of which 750 were duplicates and therefore subtracted. The researcher reviewed all the titles and abstracts of the remaining 1340 articles. 329 articles were identified as relevant, and full texts were reviewed. Following the review of the full texts, 313 studies were excluded for relevance and 4 for methodology. Twelve articles representing 11 studies fulfilled the inclusion criteria and were selected. These studies, representing different countries across the globe, reported similar forms of hardships experienced by caregivers economically, psychosocially, and healthwise. However, the studies also show that the majority of caregivers found contentment in caring for orphans, particularly grandmother carers, and were thus enabled to provide love, care, and support despite hardships. This resulted in positive caregiving relationships -as orphans fared well emotionally and psychosocially. Some relationships, however, were found negative due to unhealed emotional wounds suffered by both caregivers and orphans and others due to the caregiver’s lack of interest in providing care. These findings were based on self-report data from both orphans and caregivers. Conclusion: Findings suggest that intervention efforts need to be intensified to: alleviate poverty in households that are affected by HIV and AIDS pandemic, strengthen the community psychosocial support programmes for orphans and their caregivers; and integrate clinical services with community programmes for the healing of emotional and psychological wounds. Contributions: Findings inform community programmes and policymakers by providing insight into the qualities of the mentioned relationships as well as identifying factors commonly associated with high-quality caregiving and poor-quality caregiving.

Keywords: systematic review, caregiving relationships, orphans and primary caregivers, AIDS

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Authors: Melissa de Zeeuw, Peter Smolianov, Arnold Bohl

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This study was designed to help and improve international performance as well increase swimming participation in the Netherlands. Over 200 sources of literature on sport delivery systems from 28 Australasian, North and South American, Western and Eastern European countries were analyzed to construct a globally applicable model of high performance swimming integrated with mass participation, comprising of the following seven elements and three levels: Micro level (operations, processes, and methodologies for development of individual athletes): 1. Talent search and development, 2. Advanced athlete support. Meso level (infrastructures, personnel, and services enabling sport programs): 3. Training centers, 4. Competition systems, 5. Intellectual services. Macro level (socio-economic, cultural, legislative, and organizational): 6. Partnerships with supporting agencies, 7. Balanced and integrated funding and structures of mass and elite sport. This model emerged from the integration of instruments that have been used to analyse and compare national sport systems. The model has received scholarly validation and showed to be a framework for program analysis that is not culturally bound. It has recently been accepted as a model for further understanding North American sport systems, including (in chronological order of publications) US rugby, tennis, soccer, swimming and volleyball. The above model was used to design a questionnaire of 42 statements reflecting desired practices. The statements were validated by 12 international experts, including executives from sport governing bodies, academics who published on high performance and sport development, and swimming coaches and administrators. In this study both a highly structured and open ended qualitative analysis tools were used. This included a survey of swim coaches where open responses accompanied structured questions. After collection of the surveys, semi-structured discussions with Federation coaches were conducted to add triangulation to the findings. Lastly, a content analysis of Dutch Swimming’s website and organizational documentation was conducted. A representative sample of 1,600 Dutch Swim coaches and administrators was collected via email addresses from Royal Dutch Swimming Federation' database. Fully completed questionnaires were returned by 122 coaches from all key country’s regions for a response rate of 7,63% - higher than the response rate of the previously mentioned US studies which used the same model and method. Results suggest possible enhancements at macro level (e.g., greater public and corporate support to prepare and hire more coaches and to address the lack of facilities, monies and publicity at mass participation level in order to make swimming affordable for all), at meso level (e.g., comprehensive education for all coaches and full spectrum of swimming pools particularly 50 meters long), and at micro level (e.g., better preparation of athletes for a future outside swimming and better use of swimmers to stimulate swimming development). Best Dutch swimming management practices (e.g., comprehensive support to most talented swimmers who win Olympic medals) as well as relevant international practices available for transfer to the Netherlands (e.g., high school competitions) are discussed.

Keywords: sport development, high performance, mass participation, swimming

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Authors: Catherine Alex Agbor

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The modern Nigerian society is dynamic, divided in zones based on economic, political and educational resources often shared across the zones. The Six Geopolitical Zones in Nigeria is a major division in modern Nigeria, created during the regime of president Ibrahim Badamasi Babangida. They are North Central, North East, North West, South East, South South and South West. However, the zone used in this study is known as former South-Eastern State of Akwa-Ibom State and Cross-River State; former Rivers State of Bayelsa State and Rivers State; and former Mid-Western Region, Nigeria of Delta State and Edo State. Many reforms have taken place overtime, particularly in the education sector. Education is constantly presenting new ideas and innovative approaches which act to facilitate the rapid exchange of knowledge and provide quality basic education for learners. The Federal Government of Nigeria in accordance with its National Council on Education directed the Nigerian Educational Research and Development Council to restructure its basic education curriculum with the hope to enable the nation meet national and global developmental goals. One of the goals of the 9-year Basic Education Programme is developing in the entire citizenry a strong consciousness for education and a strong commitment to its vigorous promotion. Another is ensuring the acquisition of appropriate levels of literacy, numeracy, manipulative, communicative and life-skills as well as the ethical, moral and civic values for laying a solid foundation for lifelong learning. Therefore, this article at the introductory stage is aimed to describe some key issues in Nigeria’s experience in the basic education curriculum. In this study, particular attention is paid to this very recent educational policy of the Nigerian government known as Universal Basic Education, its challenges and what can be done to make the policy achieve its desired objectives. It progresses to analyze modern requirements for second language teaching; and presents the challenges of second language teaching in Nigeria. Finally, it reports a study which investigated special efforts for appropriate achievement of quality education in language classroom in the south-south zone of Nigeria. One fundamental research question was posed on what educational practices can contribute to current understanding of the structure of language curriculum. More explicitly, the study was designed to analyze the extent to which quality content contributes to current understanding of the structure of school curriculum in the zone. Otherwise stated, it investigated how student-centred educational practices impact on their learning of French language. One hundred and eighty (180) participants (teachers) were purposefully sampled for the study. Qualitative technique was used to elicit information from participants. The qualitative method used was Focus Group Discussion (FGD). Participants were divided into six groups comprising of 30 teachers from each zone. Group discussions were based mainly on curriculum contents and practices. Information from participants revealed that the curriculum content, among others is inadequate and should be re-examined. Recommendations were proffered as a panacea to concrete implementation of the basic education in Nigeria.

Keywords: basic education, quality contents, second language, south-south states

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Authors: Irum Naz

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In the Arabian higher education context, linguistic proficiency in the English language is considered crucial for the developmental sustainability, economic growth, and stability of communities and societies. Qatar’s educational reforms package, through the 2030 vision, identifies the acquisition of English at K-12 as an essential survival communication tool for globalization, believing that Qatari students need better preparation to take on the responsibilities of leadership and to participate effectively in the country’s surging economy. The idea of introducing Qatari students to modern curricula benchmarked to high-student-performance curricula in developed countries is one of the components of reformatory design principles of Education for New Era reform project that is mutually consented to and supported by the Office of Shared Services, Communications Office, and Supreme Education Council. In appreciation of the government’s vision, the English Language Centre (ELC) at the Community College of Qatar ran an internal educational audit and conducted evaluative research to understand and appraise the value, impact, and practicality of the existing ELC language development program. This study sought to identify the type of change that could identify and improve the quality of Foundation Program courses and the manners in which second language learners could be assisted to transit smoothly between (ELC) levels. Following the interpretivist paradigm and mixed research method, the data was gathered through a bicyclic research model and a triangular design. The analyses of the data suggested that there was a need for improvement in the ELC program as a whole, and particularly in terms of curriculum, student learning outcomes, and the general learning environment in the department. Key findings suggest that the target program would benefit from significant revisions, which would include narrowing the focus of the courses, providing sets of specific learning objectives, and preventing repetition between levels. Another promising finding was about the assessment tools and process. The data suggested that a set of standardized assessments that more closely suited the programs of study should be devised. It was also recommended that students undergo a more comprehensive placement process to ensure that they begin the program at an appropriate level and get the maximum benefit from their learning experience. Although this ties into the idea of curriculum revamp, it was expected that students could leave the ELC having had exposure to courses in English for specific purposes. The idea of a more reliable exit assessment for students was raised frequently so ELC could regulate itself and ensure optimum learning outcomes. Another important recommendation was the provision of a Student Learning Center for students that would help them to receive personalized tuition, differentiated instruction, and self-driven and self-evaluated learning experience. In addition, an extra study level was recommended to be added to the program to accommodate the different levels of English language proficiency represented among ELC students. The evidence collected in the course of conducting the study suggests that significant change is needed in the structure of the ELC program, specifically about curriculum, the program learning outcomes, and the learning environment in general.

Keywords: educational audit, ESL, optimum learning outcomes, Qatar’s educational reforms, self-driven and self-evaluated learning experience, Student Learning Center

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Authors: Elena Bellini, Daniele Mugnaini, Michele Boschetto

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People with an Autistic Spectrum Disorder and an Intellectual Disability who need to attend a Hospital Emergency Waiting Room frequently present high levels of discomfort and challenging behaviors due to stress-related hyperarousal, sensory sensitivity, novelty-anxiety, communication and self-regulation difficulties. Increased agitation and acting out also disturb the diagnostic and therapeutic processes, and the emergency room climate. Architectural design disciplines aimed at reducing distress in hospitals or creating autism-friendly environments are called for to find effective answers to this particular need. A growing number of researchers are considering the physical environment as an important point of intervention for people with autism. It has been shown that providing the right setting can help enhance confidence and self-esteem and can have a profound impact on their health and wellbeing. Environmental psychology has evaluated the perceived quality of care, looking at the design of hospital rooms, paths and circulation, waiting rooms, services and devices. Furthermore, many studies have investigated the influence of the hospital environment on patients, in terms of stress-reduction and therapeutic intervention’ speed, but also on health professionals and their work. Several services around the world are organizing autism-friendly hospital environments which involve the architecture and the specific staff training. In Italy, the association Spes contra spem has promoted and published, in 2013, the ‘Chart of disabled people in the hospital’. It stipulates that disabled people should have equal rights to accessible and high-quality care. There are a few Italian examples of therapeutic programmes for autistic people as the Dama project in Milan and the recent experience of Children and Autism Foundation in Pordenone. Careggi’s Emergency Waiting Room in Florence has been built to satisfy this challenge. This project of research comes from a collaboration between the technical staff of Careggi Hospital, the Center for autism PAMAPI and some architects expert in the sensory environment. The methodology of focus group involved architects, psychologists and professionals through a transdisciplinary research, centered on the links between the spatial characteristics and clinical state of people with ASD. The relationship between architectural space and quality of life is studied to pay maximum attention to users’ needs and to support the medical staff in their work by a specific program of training. The result of this research is a sum of criteria used to design the emergency waiting room, that will be illustrated. A protected room, with a clear space design, maximizes comprehension and predictability. The multisensory environment is thought to help sensory integration and relaxation. Visual communication through Ipad allows an anticipated understanding of medical procedures, and a specific technological system supports requests, choices and self-determination in order to fit sensory stimulation to personal preferences, especially for hypo and hypersensitive people. All these characteristics should ensure a better regulation of the arousal, less behavior problems, improving treatment accessibility, safety, and effectiveness. First results about patient-satisfaction levels will be presented.

Keywords: accessibility of care, autism-friendly architecture, personalized therapeutic process, sensory environment

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Authors: H. A. J. Nguyen, V. A. Pham

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RE:SOUNDING is an ongoing research project and artwork seeking to return the sound and knowledge of Dong Son bronze drums back to contemporary musicians. Colonial collections of ethnographic instruments are problematic in how they commit acts of conceptual, cultural, and acoustic silencing. The collection (or more honestly), the plagiarism, and pillaging of these instruments have systemically separated them from living and breathing cultures. This includes diasporic communities, who have come to resettle in close proximity - but still have little access - to the museums and galleries that display their cultural objects. Despite recent attempts to 'open up' and 'recognise' the tensions and violence of these ethnographic collections, many museums continue to structurally organize and reproduce knowledge with the same procedural distance and limitations of imperial condescension. Impatient with the slowness of these museums, our diaspora led collaborations participated in the opaque economy of the auction market to gain access and begin the process of digitally recording and archiving the actual sounds of the ancient Dong Son drum. This self-directed, self-initiated artwork not only acoustically reinvigorated an ancient instrument but redistributed these sonic materials back to contemporary musicians, composers, and their diasporic communities throughout Vietnam, South East Asia, and Australia. Our methodologies not only highlight the persistent inflexibility of museum infrastructures but demand that museums refrain from their paternalistic practice of risk-averse ownership, to seriously engage with new technologies and political formations that require all public institutions to be held accountable for the ethical and intellectual viability of their colonial collections. The integrated and practical resolve of diasporic artists and their communities are more than capable of working with new technologies to reclaim and reinvigorate what is culturally and spiritually theirs. The motivation to rematriate – as opposed to merely repatriate – the acoustic legacies of these instruments to contemporary musicians and artists is a new model for decolonial and restorative practices. Exposing the inadequacies of western scholarship that continues to treat these instruments as discreet, disembodied, and detached artifacts, these collaborative strategies have thus far produced a wealth of new knowledge – new to the west perhaps – but not that new to these, our own communities. This includes the little-acknowledged fact that the Dong Son drum were political instruments of war and technology, rather than their simplistic description in the museum and western academia as agrarian instruments of fertility and harvest. Through the collective and continued sharing of knowledge and sound materials produced from this research, these drums are gaining a contemporary relevance beyond the cultural silencing of the museum display cabinet. Acknowledgement: We acknowledge the Wurundjeri and Boon Wurrung of the Kulin Nation and the Gadigal of the Eora Nation where we began this project. We pay our respects to the Peoples, Lands, Traditional Custodians, Practices, and Creator Ancestors of these Great Nations, as well as those First Nations peoples throughout Australia, Vietnam, and Indonesia, where this research continues, and upon whose stolen lands and waterways were never ceded.

Keywords: acoustic archaeology, decolonisation, museum collections, rematriation, repatriation, Dong Son, experimental music, digital recording

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Authors: Sarwan Dhir, Suma Basak, Dipika Parajulee

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Alfalfa is renowned for its nutritional and biopharmaceutical value as a perennial forage legume. However, establishing a rapid plant regeneration protocol using somatic embryogenesis and efficient transformation frequency are the crucial prerequisites for gene editing in alfalfa. This study was undertaken to establish and improve the protocol for somatic embryogenesis and subsequent plant regeneration. The experiments were conducted in response to natural sensitivity using various antibiotics such as cefotaxime, carbenicillin, gentamycin, hygromycin, and kanamycin. Using 3-week-old leaf tissue, somatic embryogenesis was initiated on Gamborg’s B5 basal (B5H) medium supplemented with 3% maltose, 0.9µM Kinetin, and 4.5µM 2,4-D. Embryogenic callus (EC) obtained from the B5H medium exhibited a high rate of somatic embryo formation (97.9%) after 3 weeks when the cultures were placed in the dark. Different developmental stages of somatic embryos and cotyledonary stages were then transferred to Murashige and Skoog’s (MS) basal medium under light, resulting in a 94% regeneration rate of plantlets. Our results indicate that leaf segments can grow (tolerate) up to 450 mg/L of cefotaxime and 400 mg/L of carbenicillin in the culture medium. However, the survival threshold for hygromycin at 12.5 mg/L, kanamycin at 250 mg/L, gentamycin at 50 mg/L, and timentin (300 mg/L). The experiment to improve the protocol for achieving efficient transient gene expression in alfalfa through genetic transformation with the Agrobacterium tumefaciens pCAMBIA1304 vector was also conducted. The vector contains two reporter genes such as β-glucuronidase (GUS) and green fluorescent protein (GFP), along with a selectable hygromycin B phosphotransferase gene (HPT), all driven under the CaMV 35s promoter. Various transformation parameters were optimized using 3-week-old in vitro-grown plantlets. The different parameters such as types of explant, leaf ages, preculture days, segment sizes, wounding types, bacterial concentrations, infection periods, co-cultivation periods, different concentrations of acetosyringone, silver nitrate, and calcium chloride were optimized for transient gene expression. The transient gene expression was confirmed via histochemical GUS and GFP visualization under fluorescent microscopy. The data were analyzed based on the semi-quantitative observation of the percentage and number of blue GUS spots on different days of agro-infection. The highest percentage of GUS positivity (76.2%) was observed in 3-week-old leaf segments wounded using a scalpel blade of 11 size- after 3 days of post-incubation at a bacterial concentration of 0.6, with 2 days of preculture, 30 min of bacterial-leaf segment co-cultivation, with the addition of 150 µM acetosyringone, 4 mM calcium chloride, and 75 µM silver nitrate. Our results suggest that various factors influence T-DNA delivery in the Agrobacterium-mediated transformation of alfalfa. The stable gene expression in the putative transgenic tissue was confirmed using PCR amplification of both marker genes, indicating that gene expression in explants was not solely due to Agrobacterium, but also from transformed cells. The improved protocol could be used for generating transgenic alfalfa plants using genome editing techniques such as CRISPR/Cas9.

Keywords: Medicago sativa l. (Alfalfa), agrobacterium tumefaciens, β-glucuronidase, green fluorescent protein, transient gene

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Authors: Artem Kim, Clara Savary, Christele Dubourg, Wilfrid Carre, Houda Hamdi-Roze, Valerie Dupé, Sylvie Odent, Marie De Tayrac, Veronique David

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Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from the incomplete separation of the two cerebral hemispheres. It is characterized by a wide phenotypic spectrum and a high degree of locus heterogeneity. Genetic defects in 16 genes have already been implicated in HPE, but account for only 30% of cases, suggesting that a large part of genetic factors remains to be discovered. HPE has been recently redefined as a complex multigenic disorder, requiring the joint effect of multiple mutational events in genes belonging to one or several developmental pathways. The onset of HPE may result from accumulation of the effects of multiple rare variants in functionally-related genes, each conferring a moderate increase in the risk of HPE onset. In order to decipher the genetic basis of HPE, unconventional patterns of inheritance involving multiple genetic factors need to be considered. The primary objective of this study was to uncover possible disease causing combinations of multiple rare variants underlying HPE by performing trio-based Whole Exome Sequencing (WES) of familial cases where no molecular diagnosis could be established. 39 families were selected with no fully-penetrant causal mutation in known HPE gene, no chromosomic aberrations/copy number variants and without any implication of environmental factors. As the main challenge was to identify disease-related variants among a large number of nonpathogenic polymorphisms detected by WES classical scheme, a novel variant prioritization approach was established. It combined WES filtering with complementary gene-level approaches: transcriptome-driven (RNA-Seq data) and clinically-driven (public clinical data) strategies. Briefly, a filtering approach was performed to select variants compatible with disease segregation, population frequency and pathogenicity prediction to identify an exhaustive list of rare deleterious variants. The exome search space was then reduced by restricting the analysis to candidate genes identified by either transcriptome-driven strategy (genes sharing highly similar expression patterns with known HPE genes during cerebral development) or clinically-driven strategy (genes associated to phenotypes of interest overlapping with HPE). Deeper analyses of candidate variants were then performed on a family-by-family basis. These included the exploration of clinical information, expression studies, variant characteristics, recurrence of mutated genes and available biological knowledge. A novel bioinformatics pipeline was designed. Applied to the 39 families, this final integrated workflow identified an average of 11 candidate variants per family. Most of candidate variants were inherited from asymptomatic parents suggesting a multigenic inheritance pattern requiring the association of multiple mutational events. The manual analysis highlighted 5 new strong HPE candidate genes showing recurrences in distinct families. Functional validations of these genes are foreseen.

Keywords: complex genetic disorder, holoprosencephaly, multiple rare variants, whole exome sequencing

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Authors: Lakshmi Rao Kandukuri, Mamata Deenadayal, Suma Prasad, Bipin Sethi, Srinadh Buragadda, Lalji Singh

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Worldwide; at least 7.6 million children are born annually with severe genetic or congenital malformations and among them 90% of these are born in mid and low-income countries. Precise prevalence data are difficult to collect, especially in developing countries, owing to the great diversity of conditions and also because many cases remain undiagnosed. The genetic and congenital disorder is the second most common cause of infant and childhood mortality and occurs with a prevalence of 25-60 per 1000 births. The higher prevalence of genetic diseases in a particular community may, however, be due to some social or cultural factors. Such factors include the tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome and may cause early death or life-long chronic morbidity. Genetic testing for several genetic diseases identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use and more are being developed. Chromosomal abnormalities are the major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. We present here especially chromosomal abnormalities which form a major part of genetic disease burden in India. Different programmes on chromosome research and human reproductive genetics primarily relate to infertility since this is a major public health problem in our country, affecting 10-15 percent of couples. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding the continuation of pregnancy. In addition to the basic research, the team is providing chromosome diagnostic services that include conventional and advanced techniques for identifying various genetic defects. Other than routine chromosome diagnosis for infertility, also include patients with short stature, hypogonadism, undescended testis, microcephaly, delayed developmental milestones, familial, and isolated mental retardation, and cerebral palsy. Thus, chromosome diagnostics has found its applicability not only in disease prevention and management but also in guiding the clinicians in certain aspects of treatment. It would be appropriate to affirm that chromosomes are the images of life and they unequivocally mirror the states of human health. The importance of genetic counseling is increasing with the advancement in the field of genetics. The genetic counseling can help families to cope with emotional, psychological, and medical consequences of genetic diseases.

Keywords: India, chromosome abnormalities, genetic disorders, cytogenetic study

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