Search results for: Marie F. Wilson

Authors: Jessica Raven Gates, Gemma Wilson-Menzfeld, Professor Alison Steven

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In 2019, the Primary Care system in the UK National Health Service (NHS) was subject to reform and restructuring. Primary Care Networks (PCNs) were established, which aligned with a trend towards integrated care both within the NHS and internationally. The introduction of PCNs brought groups of GP practices in a locality together, to operate as a network, build on existing services and collaborate at a larger scale. PCNs were expected to bring a range of benefits to patients and address some of the workforce pressures in the NHS, through an expanded and collaborative workforce. The early establishment of PCNs was disrupted by the emerging COVID-19 pandemic. This study, set in the context of the pandemic, aimed to explore experiences of the PCN workforce, and their perceptions of the establishment of PCNs. Specific objectives focussed on examining factors perceived as enabling or hindering the success of a PCN, the impact on day-to-day work, the approach to implementing change, and the influence of the COVID-19 pandemic upon PCN development. This study is part of a three-phase PhD project that utilized qualitative approaches and was underpinned by social constructionist philosophy. Phase 1: a systematic narrative review explored the provision of preventative healthcare services in UK primary settings and examined facilitators and barriers to delivery as experienced by the workforce. Phase 2: informed by the findings of phase 1, semi-structured interviews were conducted with fifteen participants (PCN workforce). Phase 3: follow-up interviews were conducted with original participants to examine any changes to their experiences and perceptions of PCNs. Three main themes span across phases 2 and 3 and were generated through a Framework Analysis approach: 1) working together at scale, 2) network infrastructure, and 3) PCN leadership. Findings suggest that through efforts to work together at scale and collaborate as a network, participants have broadly accepted the concept of PCNs. However, the workforce has been hampered by system design and system complexity. Operating against such barriers has led to a negative psychological impact on some PCN leaders and others in the PCN workforce. While the pandemic undeniably increased pressure on healthcare systems around the world, it also acted as a disruptor, offering a glimpse into how collaboration in primary care can work well. Through the integration of findings from all phases, a new theoretical model has been developed, which conceptualises the findings from this Ph.D. study and demonstrates how the workforce has experienced change associated with the establishment of PCNs. The model includes a contextual component of the COVID-19 pandemic and has been informed by concepts from Complex Adaptive Systems theory. This model is the original contribution to knowledge of the PhD project, alongside recommendations for practice, policy and future research. This study is significant in the realm of health services research, and while the setting for this study is the UK NHS, the findings will be of interest to an international audience as the research provides insight into how the healthcare workforce may experience imposed policy and service changes.

Keywords: health services research, qualitative research, NHS workforce, primary care

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Authors: Linda D. F. Bambara, Marie Sawadogo

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Jatropha curcas (jatropha) is the plant that has been the most studied for biofuel production in West Africa. There exist however other plants such as Balanites aegyptiaca (balanites) that have been targeted as a potential feedstock for biofuel production. This biomass could be an alternative feedstock for the production of straight vegetable oil (SVO) at costs lower than jatropha-based SVO production costs. This study aims firstly to determine, through an MILP model, the optimal organization that minimizes the costs of the oilseeds supply of two biomass conversion units (BCU) exploiting respectively jatropha seeds and the balanitès seeds. Secondly, the study aims to carry out a comparative study of these costs obtained for each BCU. The model was then implemented on two theoretical cases studies built on the basis of the common practices in Burkina Faso and two scenarios were carried out for each case study. In Scenario 1, 3 pre-processing locations ("at the harvesting area", "at the gathering points", "at the BCU") are possible. In scenario 2, only one location ("at the BCU") is possible. For each biomass, the system studied is the upstream supply chain (harvesting, transport and pre-processing (drying, dehulling, depulping)), including cultivation (for jatropha). The model optimizes the area of land to be exploited based on the productivity of the studied plants and material losses that may occur during the harvesting and the supply of the BCU. It then defines the configuration of the logistics network allowing an optimal supply of the BCU taking into account the most common means of transport in West African rural areas. For the two scenarios, the results of the implementation showed that the total area exploited for balanites (1807 ha) is 4.7 times greater than the total area exploited for Jatropha (381 ha). In both case studies, the location of pre-processing “at the harvesting area” was always chosen for scenario1. As the balanites trees were not planted and because the first harvest of the jatropha seeds took place 4 years after planting, the cost price of the seeds at the BCU without the pre-processing costs was about 430 XOF/kg. This cost is 3 times higher than the balanites's one, which is 140 XOF/kg. After the first year of harvest, i.e. 5 years after planting, and assuming that the yield remains constant, the same cost price is about 200 XOF/kg for Jatropha. This cost is still 1.4 times greater than the balanites's one. The transport cost of the balanites seeds is about 120 XOF/kg. This cost is similar for the jatropha seeds. However, when the pre-processing is located at the BCU, i.e. for scenario2, the transport costs of the balanites seeds is 1200 XOF/kg. These costs are 6 times greater than the transport costs of jatropha which is 200 XOF/kg. These results show that the cost price of the balanites seeds at the BCU can be competitive compared to the jatropha's one if the pre-processing is located at the harvesting area.

Keywords: Balanites aegyptiaca, biomass conversion, Jatropha curcas, optimization, post-harvest operations

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Authors: Ani Wilson Uchenna, Ogbonna Chikodi

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This study examined the impact of artificial intelligence driven applications on banks’ performance in West Africa using Nigeria and Ghana as case studies. Specifically, the study examined the extent to which deployment of smart automated teller machine impacts the banks’ net worth within the reference period in Nigeria and Ghana. It ascertained the impact of point of sale on banks’ net worth within the reference period in Nigeria and Ghana. Thirdly, it verified the extent to which webpay services can influence banks’ performance in Nigeria and Ghana and finally, determined the impact of mobile pay services on banks’ performance in Nigeria and Ghana. The study used automated teller machine (ATM), Point of sale services (POS), Mobile pay services (MOP) and Web pay services (WBP) as proxies for explanatory variables while Bank net worth was used as explained variable for the study. The data for this study were sourced from central bank of Nigeria (CBN) Statistical Bulletin as well as Bank of Ghana (BoGH) Statistical Bulletin, Ghana payment systems oversight annual report and world development indicator (WDI). Furthermore, the mixed order of integration observed from the panel unit test result justified the use of autoregressive distributed lag (ARDL) approach to data analysis which the study adopted. While the cointegration test showed the existence of cointegration among the studied variables, bound test result justified the presence of long-run relationship among the series. Again, ARDL error correction estimate established satisfactory (13.92%) speed of adjustment from long run disequilibrium back to short run dynamic relationship. The study found that while Automated teller machine (ATM) had statistically significant impact on bank net worth (BNW) of Nigeria and Ghana, point of sale services application (POS) statistically and significantly impact on bank net worth within the study period, mobile pay services application was statistically significant in impacting the changes in the bank net worth of the countries of study while web pay services (WBP) had no statistically significant impact on bank net worth of the countries of reference. The study concluded that artificial intelligence driven application have significant an positive impact on bank performance with exception of web pay which had negative impact on bank net worth. The study recommended that management of banks both in Nigerian and Ghanaian should encourage more investments in AI-powered smart ATMs aimed towards delivering more secured banking services in order to increase revenue, discourage excessive queuing in the banking hall, reduced fraud and minimize error in processing transaction. Banks within the scope of this study should leverage on modern technologies to checkmate the excesses of the private operators POS in order to build more confidence on potential customers. Government should convert mobile pay services to a counter terrorism tool by ensuring that restrictions on over-the-counter withdrawals to a minimum amount is maintained and place sanctions on withdrawals above that limit.

Keywords: artificial intelligence (ai), bank performance, automated teller machines (atm), point of sale (pos)

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Authors: S.Kauroo, J. Govinden Soulange, D. Marie

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Psiadia species from the Asteraceae are traditionally used in the folk medicine of Mauritius to treat cutaneous and bronchial infections. The present study aimed at validating the phytomedicinal properties of the selected species from the Asteraceae family, namely Psiadia arguta, Psiadia viscosa, Psiadia lithospermifolia, and Distephanus populifolius. Dried hexane, ethyl acetate, and methanol leaf extracts were studied for their antioxidant properties using the DPPH (1, 1-diphenyl-2-picryl-hydrazyl), FRAP (Ferric Reducing Ability of Plasma), and Deoxyribose assays. Antibacterial activity against human pathogenic bacteria namely Escherichia coli (ATCC 27853), Staphylococcus aureus (ATCC 29213), Enterococcus faecalis (ATCC 29212), Klebsiella pneumonia (ATCC27853), Pseudomonas aeruginosa (ATCC 27853), and Bacillus cereus (ATCC 11778) was measured using the broth microdilution assay. Qualitative phytochemical screening using standard methods revealed the presence of coumarins, tannins, leucoanthocyanins, and steroids in all the tested extracts. The measured phenolics level of the selected plant extracts varied from 24.0 to 231.6 mg GAE/g with the maximum level in methanol extracts in all four species. The highest flavonoids and proanthocyanidins content was noted in Psiadia arguta methanolic extracts with 65.7±1.8 mg QE/g and 5.1±0.0 mg CAT/g dry weight (DW) extract, respectively. The maximum free radical scavenging activity was measured in Psiadia arguta methanol and ethyl acetate extracts with IC50 11.3±0.2 and 11.6± 0.2 µg/mL, respectively and followed by Distephanus populifolius methanol extracts with an IC50 of 11.3± 0.8 µg/mL. The maximum ferric reducing antioxidant potential was noted in Psiadia lithospermifolia methanol extracts with a FRAP value of 18.8 ± 0.4 µmol Fe2+/L/g DW. The antioxidant capacity based on DPPH and Deoxyribose values were negatively related to total phenolics, flavonoid and proanthocyanidins content while the ferric reducing antioxidant potential were strongly correlated to total phenolics, flavonoid and proanthocyanidins content. All four species exhibited antimicrobial activity against the tested bacteria (both Gram-negative and Gram-positive). Interestingly, the hexane and ethyl acetate extracts of Psiadia viscosa and Psiadia lithospermifolia were more active than the control antibiotic Chloramphenicol. The Minimum inhibitory concentration (MIC) values for hexane and ethyl acetate extracts of Psiadia viscosa and Psiadia lithospermifolia against the tested bacteria ranged from (62.5 to 500 µg/ml). These findings validate the use of these tested Asteraceae in the traditional medicine of Mauritius and also highlight their pharmaceutical potential as prospective phytomedicines.

Keywords: antibacterial, antioxidant, DPPH, flavonoids, FRAP, Psiadia spp

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Authors: Maquiling Jhuvie Jane R., Ojastro Regine B., Peroja Loreille Marie B., Pinili Joy Angela., Salve Genial Gail M., Villavicencio Marielle Irene B., Yap Alther Francis Garth B.

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Introduction: This study investigated the impact of prolonged device usage on wrist pain and perceived academic performance among college students in Computer Studies. The research aims to explore the correlation between the frequency of technological device use and the incidence of wrist pain, as well as how this pain affects students' academic performance. The study seeks to provide insights that could inform interventions to promote better musculoskeletal health among students engaged in intensive technology use to further improve their academic performance. Method: The study utilized descriptive-correlational and comparative design, focusing on bona fide students from Silliman University’s College of Computer Studies during the second semester of 2023-2024. Participants were recruited through a survey sent via school email, with responses collected until March 30, 2024. Data was gathered using a password-protected device and Google Forms, ensuring restricted access to raw data. The demographic profile was summarized, and the prevalence of wrist pain and device usage were analyzed using percentages and weighted means. Statistical analyses included Spearman’s rank correlation coefficient to assess the relationship between wrist pain and device usage and an Independent T-test to evaluate differences in academic performance based on wrist pain presence. Alpha was set at 0.05. Results: The study revealed that 40% of College of Computer Studies students experience wrist pain, with 2 out of every 5 students affected. Laptops and desktops were the most frequently used devices for academic work, achieving a weighted mean of 4.511, while mobile phones and tablets received lower means of 4.183 and 1.911, respectively. The average academic performance score among students was 29.7, classified as ‘Good Performance.’ Notably, there was no significant relationship between the frequency of device usage and wrist pain, as indicated by p-values exceeding 0.05. However, a significant difference in perceived academic performance was observed, with students without wrist pain scoring an average of 30.39 compared to 28.72 for those with wrist pain and a p-value of 0.0134 confirming this distinction. Conclusion: The study revealed that about 40% of students in the College of Computer Studies experience wrist pain, but there is no significant link between device usage and pain occurrence. However, students without wrist pain demonstrated better academic performance than those with pain, suggesting that wrist health may impact academic success. These findings imply that physical therapy practices in the Philippines should focus on preventive strategies and ergonomic education to improve student health and performance.

Keywords: wrist pain, frequency of use of technological devices, perceived academic performance, physical therapy

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Authors: Angeliki Gkiouzeli, Christine Rotonda, Elise Eby, Claire Touchet, Marie-Jo Brennstuhl, Cyril Tarquinio

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Resilience is a psychological concept of possible relevance to the development and maintenance of chronic pain (CP). It refers to the ability of individuals to maintain reasonably healthy levels of physical and psychological functioning when exposed to an isolated and potentially highly disruptive event. Extensive research in recent years has supported the importance of this concept in the CP literature. Increased levels of resilience were associated with lower levels of perceived pain intensity and better mental health outcomes in adults with persistent pain. The ongoing project seeks to include the concept of pain-specific resilience in the French literature in order to provide more appropriate measures for assessing and understanding the complexities of CP in the near future. To the best of our knowledge, there is currently no validated version of the pain-specific resilience measure, the Pain Resilience scale (PRS), for French-speaking populations. Therefore, the present work aims to address this gap, firstly by performing a linguistic and cultural translation of the scale into French and secondly by studying the internal validity and reliability of the PRS for French CP populations. The forward-translation-back translation methodology was used to achieve as perfect a cultural and linguistic translation as possible according to the recommendations of the COSMIN (Consensus-based Standards for the selection of health Measurement Instruments) group, and an online survey is currently conducted among a representative sample of the French population suffering from CP. To date, the survey has involved one hundred respondents, with a total target of around three hundred participants at its completion. We further seek to study the metric properties of the French version of the PRS, ''L’Echelle de Résilience à la Douleur spécifique pour les Douleurs Chroniques'' (ERD-DC), in French patients suffering from CP, assessing the level of pain resilience in the context of CP. Finally, we will explore the relationship between the level of pain resilience in the context of CP and other variables of interest commonly assessed in pain research and treatment (i.e., general resilience, self-efficacy, pain catastrophising, and quality of life). This study will provide an overview of the methodology used to address our research objectives. We will also present for the first time the main findings and further discuss the validity of the scale in the field of CP research and pain management. We hope that this tool will provide a better understanding of how CP-specific resilience processes can influence the development and maintenance of this disease. This could ultimately result in better treatment strategies specifically tailored to individual needs, thus leading to reduced healthcare costs and improved patient well-being.

Keywords: chronic pain, pain measure, pain resilience, questionnaire adaptation

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Authors: Ioanna Taouki, Marie Lallier, David Soto

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Metacognition refers to the capacity to reflect upon our own cognitive processes. Although there is an ongoing discussion in the literature on the role of metacognition in learning and academic achievement, little is known about its neurodevelopmental trajectories in early childhood, when children begin to receive formal education in reading. Here, we evaluate the metacognitive ability, estimated under a recently developed Signal Detection Theory model, of a cohort of children aged between 6 and 7 (N=60), who performed three two-alternative-forced-choice tasks (two linguistic: lexical decision task, visual attention span task, and one non-linguistic: emotion recognition task) including trial-by-trial confidence judgements. Our study has three aims. First, we investigated how metacognitive ability (i.e., how confidence ratings track accuracy in the task) relates to performance in general standardized tasks related to students' reading and general cognitive abilities using Spearman's and Bayesian correlation analysis. Second, we assessed whether or not young children recruit common mechanisms supporting metacognition across the different task domains or whether there is evidence for domain-specific metacognition at this early stage of development. This was done by examining correlations in metacognitive measures across different task domains and evaluating cross-task covariance by applying a hierarchical Bayesian model. Third, using robust linear regression and Bayesian regression models, we assessed whether metacognitive ability in this early stage is related to the longitudinal learning of children in a linguistic and a non-linguistic task. Notably, we did not observe any association between students’ reading skills and metacognitive processing in this early stage of reading acquisition. Some evidence consistent with domain-general metacognition was found, with significant positive correlations between metacognitive efficiency between lexical and emotion recognition tasks and substantial covariance indicated by the Bayesian model. However, no reliable correlations were found between metacognitive performance in the visual attention span and the remaining tasks. Remarkably, metacognitive ability significantly predicted children's learning in linguistic and non-linguistic domains a year later. These results suggest that metacognitive skill may be dissociated to some extent from general (i.e., language and attention) abilities and further stress the importance of creating educational programs that foster students’ metacognitive ability as a tool for long term learning. More research is crucial to understand whether these programs can enhance metacognitive ability as a transferable skill across distinct domains or whether unique domains should be targeted separately.

Keywords: confidence ratings, development, metacognitive efficiency, reading acquisition

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Authors: Goulet Marie-Pier, Voyer Dominic, Simoneau Victoria

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In a previous research project (2011-2019) funded by the Quebec Ministry of Education, an educational approach was developed based on the teaching and learning of place value through children's literature. Subsequently, the effect of this approach on the conceptual understanding of the concept among first graders (6-7 years old) was studied. The current project aims to create a series of children's literature to help older elementary school students (8-10 years old) in developing a conceptual understanding of complex mathematical concepts taught at their grade level rather than a more typical procedural understanding. Knowing that there are no educational material or children's books that exist to achieve our goals, four stories, accompanied by mathematical activities, will be created to support students, and their teachers, in the learning and teaching of mathematical concepts that can be challenging within their mathematic curriculum. The stories will also introduce a mathematical dialogue into the characters' discourse with the aim to address various mathematical foundations for which there are often erroneous statements among students and occasionally among teachers. In other words, the stories aim to empower students seeking a real understanding of difficult mathematical concepts, as well as teachers seeking a way to teach these difficult concepts in a way that goes beyond memorizing rules and procedures. In order to choose the concepts that will be part of the stories, it is essential to understand the current landscape regarding the main difficulties experienced by students in third and fourth grade (8-10 years old) and their teacher’s needs. From this perspective, the preliminary phase of the study, as discussed in the presentation, will provide critical insight into the mathematical concepts with which the target grade levels struggle the most. From this data, the research team will select the concepts and develop their stories in the second phase of the study. Two questions are preliminary to the implementation of our approach, namely (1) what mathematical concepts are considered the most “difficult to teach” by teachers in the third and fourth grades? and (2) according to teachers, what are the main difficulties encountered by their students in numeracy? Self-administered online questionnaires using the SimpleSondage software will be sent to all third and fourth-grade teachers in nine school service centers in the Quebec region, representing approximately 300 schools. The data that will be collected in the fall of 2022 will be used to compare the difficulties identified by the teachers with those prevalent in the scientific literature. Considering that this ensures consistency between the proposed approach and the true needs of the educational community, this preliminary phase is essential to the relevance of the rest of the project. It is also an essential first step in achieving the two ultimate goals of the research project, improving the learning of elementary school students in numeracy, and contributing to the professional development of elementary school teachers.

Keywords: children’s literature, conceptual understanding, elementary school, learning and teaching, mathematics

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Authors: Tony Wilson

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This paper sets out a practices perspective or practices theory, which has become pervasive from business to sociological studies. In doing so, it locates the perspective historically (in the work of the philosopher Heidegger) and provides a contemporary illustration of its application to communication, consumer and cultural studies as central to this conference theme. The structured account of practices (as articulated in eight ‘axioms’) presented towards the conclusion of this paper is an initial statement - planned to encourage further detailed qualitative and systematic research in areas of interest to the conference. Practice theories of equipped and situated construction of participatory meaning (as in media and marketing consuming) are frequently characterized as lacking common ground, or core principles. This paper explores whether by retracing a journey to earlier philosophical underwriting, a shared territory promoting new research can be located as current philosophical hermeneutics. Moreover, through returning to hermeneutic first principles, the paper shows that a series of spatio-temporal metaphors become available - appropriate to analyzing communication as a process across disciplines in which it is considered. Thus one can argue, for instance, that media users engage (enter) digital text from their diverse ‘horizons of expectation’, in a productive enlarging ‘fusion’ of horizons of understanding, thereby ‘projecting’ a new narrative, integrated in a ‘hermeneutic circle’ of meaning. A politics of communication studies may contest a horizon of understanding - so engaging in critical ‘distancing’. Marketing’s consumers can occupy particular places on a horizon of understanding. Media users pass over borders of changing, revised perspectives. Practices research can now not only be discerned in multiple disciplines but equally crosses disciplines. The ubiquitous practice of media use by managers and visitors in a shopping mall - the mediatization of malls - responds to investigating not just with media study expertise, but from an interpretive marketing perspective. How have mediated identities of person or place been changed? Emphasizing understanding of entities in a material environment as ‘equipment’, practices theory enables the quantitative correlation of use and demographic variable as ‘Zeug Score’. Human behavior is fundamentally habitual - shaped by its tacit assumptions - occasionally interrupted by reflection. Practices theory acknowledges such action to be minimally monitored yet nonetheless considers it as constructing narrative. Thus presented in research, ‘storied’ behavior can then be seen to be (in)formed and shaped from a shifting hierarchy of ‘horizons’ or of perspectives - from habituated to reflective - rather than a single seamless narrative. Taking a communication practices perspective here avoids conflating tacit, transformative and theoretical understanding in research. In short, a historically grounded and unifying statement of contemporary practices theory will enhance its potential as a tool in communication, consumer and cultural research, landscaping interpretative horizons of human behaviour through exploring widely the culturally (in)formed narratives equipping and incorporated (reflectively, unreflectively) in people’s everyday lives.

Keywords: communication, consumer, cultural practices, hermeneutics

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Authors: Andrew Laming, John Hattie, Mark Wilson

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Nine Queensland Independent high schools provided deidentified student-matched ATAR and NAPLAN data for all 1217 ATAR graduates since 2020 who also sat NAPLAN at the school. Graduating cohorts from the nine schools contained a mean 100 ATAR graduates with previous NAPLAN data from their school. Excluded were vocational students (mean=27) and any ATAR graduates without NAPLAN data (mean=20). Based on Index of Community Socio-Educational Access (ICSEA) prediction, all schools had larger that predicted proportions of their students graduating with ATARs. There were an additional 173 students not releasing their ATARs to their school (14%), requiring this data to be inferred by schools. Gain was established by first converting each student’s strongest NAPLAN domain to a statewide percentile, then subtracting this result from final ATAR. The resulting ‘percentile shift’ was corrected for plausible ATAR participation at each NAPLAN level. Strongest NAPLAN domain had the highest correlation with ATAR (R2=0.58). RESULTS School mean NAPLAN scores fitted ICSEA closely (R2=0.97). Schools achieved a mean cohort gain of two ATAR rankings, but only 66% of students gained. This ranged from 46% of top-NAPLAN decile students gaining, rising to 75% achieving gains outside the top decile. The 54% of top-decile students whose ATAR fell short of prediction lost a mean 4.0 percentiles (or 6.2 percentiles prior to correction for regression to the mean). 71% of students in smaller schools gained, compared to 63% in larger schools. NAPLAN variability in each of the 13 ICSEA1100 cohorts was 17%, with both intra-school and inter-school variation of these values extremely low (0.3% to 1.8%). Mean ATAR change between years in each school was just 1.1 ATAR ranks. This suggests consecutive school cohorts and ICSEA-similar schools share very similar distributions and outcomes over time. Quantile analysis of the NAPLAN/ATAR revealed heteroscedasticity, but splines offered little additional benefit over simple linear regression. The NAPLAN/ATAR R2 was 0.33. DISCUSSION Standardised data like NAPLAN and ATAR offer educators a simple no-cost progression metric to analyse performance in conjunction with their internal test results. Change is expressed in percentiles, or ATAR shift per student, which is layperson intuitive. Findings may also reduce ATAR/vocational stream mismatch, reveal proportions of cohorts meeting or falling short of expectation and demonstrate by how much. Finally, ‘crashed’ ATARs well below expectation are revealed, which schools can reasonably work to minimise. The percentile shift method is neither value-add nor a growth percentile. In the absence of exit NAPLAN testing, this metric is unable to discriminate academic gain from legitimate ATAR-maximizing strategies. But by controlling for ICSEA, ATAR proportion variation and student mobility, it uncovers progression to ATAR metrics which are not currently publicly available. However achieved, ATAR maximisation is a sought-after private good. So long as standardised nationwide data is available, this analysis offers useful analytics for educators and reasonable predictivity when counselling subsequent cohorts about their ATAR prospects.  

Keywords: NAPLAN, ATAR, analytics, measurement, gain, performance, data, percentile, value-added, high school, numeracy, reading comprehension, variability, regression to the mean

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Authors: Pavlina Capkova, Josef Srovnal, Vera Becvarova, Marie Trkova, Zuzana Capkova, Andrea Stefekova, Vaclava Curtisova, Alena Santava, Sarka Vejvalkova, Katerina Adamova, Radek Vodicka

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ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304.

Keywords: autistic spectrum disorders, copy number variant, chromosomal microarray, intellectual disability, karyotyping, MLPA, multiplex ligation-dependent probe amplification

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Authors: Marie Alexandre, Jean Bernatchez

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This paper focuses on the complexity of the face-to-face-to-distance learning transition process. Our research action aims to support the process of transition from classroom to distance learning for teachers in higher education with regard to pedagogical practices that can meet the various needs of students using digital learning environments. In Quebec and elsewhere in the world, the advent of digital education is helping to transform teaching, which is significantly changing the role of teachers. While distance education implies a dissociation of teaching and learning to a variable degree in space and time, distance education (DE) is becoming more and increasingly becoming a preferred option for maintaining the delivery of certain programs and providing access to programs and to provide access to quality activities throughout Quebec. Given the impact of teaching practices on educational success, this paper reports on the results of three research objectives: 1) To document teachers' knowledge of teaching in distance education through the design, experimentation and production of a repertoire of the determinants of pedagogical practices in response to students' needs. 2) Explain, according to a gendered logic, the adequacy between the pedagogical practices implemented in distance learning and the response to the profiles and needs expressed by students using digital learning environments; 3) Produce a model of a support approach during the process of transition from classroom to distance learning at the college level. A mixed methodology, i.e., a quantitative component (questionnaire survey) and a qualitative component (explanatory interviews and living lab) was used in cycles that were part of an ongoing validation process. The intervention includes the establishment of a professional collaboration group, webinars training webinars for the participating teachers on the didactic issue of knowledge-teaching in FAD, the didactic use of technologies, and the differentiated socialization models of educational success in college education. All of the tools developed will be used by partners in the target environment as well as by all teacher educators, students in initial teacher training, practicing teachers, and the general public. The results show that access to training leading to qualifications and commitment to educational success reflects the existing links between the people in the educational community. The relational stakes of being present in distance education take on multiple configurations and different dimensions of learning testify to needs and realities that are sometimes distinct depending on the life cycle. This project will be of interest to partners in the targeted field as well as to all teacher trainers, students in initial teacher training, practicing college teachers, and to university professors. The entire educational community will benefit from digital resources in education. The scientific knowledge resulting from this action research will benefit researchers in the fields of pedagogy, didactics, teacher training and pedagogy in higher education in a digital context.

Keywords: action research, didactics, digital learning environment, distance learning, higher education, pedagogy technological, pedagogical content knowledge

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Authors: Elena Filova, Ondrej Kaplan, Marie Markova, Helena Dragounova, Roman Matejka, Eduard Brynda, Lucie Bacakova

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Decellularized vessels have been evaluated as small-diameter vascular prostheses. Reseeding autologous cells onto decellularized tissue prior implantation should prolong prostheses function and make them living tissues. Suitable cell types for reseeding are both endothelial cells and bone marrow-derived stem cells, with a capacity for differentiation into smooth muscle cells upon mechanical loading. Endothelial cells assure antithrombogenicity of the vessels and MSCs produce growth factors and, after their differentiation into smooth muscle cells, they are contractile and produce extracellular matrix proteins as well. Fibrin is a natural scaffold, which allows direct cell adhesion based on integrin receptors. It can be prepared autologous. Fibrin can be modified with bound growth factors, such as basic fibroblast growth factor (FGF-2) and vascular endothelial growth factor (VEGF). These modifications in turn make the scaffold more attractive for cells ingrowth into the biological scaffold. The aim of the study was to prepare thin surface-attached fibrin assemblies with bound FGF-2 and VEGF, and to evaluate growth and differentiation of bone marrow-derived mesenchymal stem cells on the fibrin (Fb) assemblies. Following thin surface-attached fibrin assemblies were prepared: Fb, Fb+VEGF, Fb+FGF2, Fb+heparin, Fb+heparin+VEGF, Fb+heparin+FGF2, Fb+heparin+FGF2+VEGF. Cell culture poly-styrene and glass coverslips were used as controls. Human MSCs (passage 3) were seeded at the density of 8800 cells/1.5 mL alpha-MEM medium with 2.5% FS and 200 U/mL aprotinin per well of a 24-well cell culture. The cells have been cultured on the samples for 6 days. Cell densities on day 1, 3, and 6 were analyzed after staining with LIVE/DEAD cytotoxicity/viability assay kit. The differentiation of MSCs is being analyzed using qPCR. On day 1, the highest density of MSCs was observed on Fb+VEGF and Fb+FGF2. On days 3 and 6, there were similar densities on all samples. On day 1, cell morphology was polygonal and spread on all sample. On day 3 and 6, MSCs growing on Fb assemblies with FGF2 became apparently elongated. The evaluation of expression of genes for von Willebrand factor and CD31 (endothelial cells), for alpha-actin (smooth muscle cells), and for alkaline phosphatase (osteoblasts) is in progress. We prepared fibrin assemblies with bound VEGF and FGF-2 that supported attachment and growth of mesenchymal stem cells. The layers are promising for improving the ingrowth of MSCs into the biological scaffold. Supported by the Technology Agency of the Czech Republic TA04011345, and Ministry of Health NT11270-4/2010, and BIOCEV – Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University” project (CZ.1.05/1.1.00/02.0109), funded by the European Regional Development Fund for their financial supports.

Keywords: fibrin assemblies, FGF-2, mesenchymal stem cells, VEGF

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Authors: Laura Villamizar, David Wright, Claudia Baena, Marie Foxwell, Maureen O'Callaghan

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Leguminous crops can be self-sufficient for their nitrogen requirements when their roots are nodulated with an effective Rhizobium strain and for this reason seed or soil inoculation is practiced worldwide to ensure nodulation and nitrogen fixation in grain and forage legumes. The most widely used method of applying commercially available inoculants is using peat cultures which are coated onto seeds prior to sowing. In general, rhizobia survive well in peat, but some species die rapidly after inoculation onto seeds. The development of improved formulation methodology is essential to achieve extended persistence of rhizobia on seeds, and improved efficacy. Formulations could be solid or liquid. Most popular solid formulations or delivery systems are: wettable powders (WP), water dispersible granules (WG), and granules (DG). Liquid formulation generally are: suspension concentrates (SC) or emulsifiable concentrates (EC). In New Zealand, R. leguminosarum bv. trifolii strain TA1 has been used as a commercial inoculant for white clover over wide areas for many years. Seeds inoculation is carried out by mixing the seeds with inoculated peat, some adherents and lime, but rhizobial populations on stored seeds decline over several weeks due to a number of factors including desiccation and antibacterial compounds produced by the seeds. In order to develop a more stable and suitable delivery system to incorporate rhizobia in pastures, two strains of R. leguminosarum (TA1 and CC275e) and several formulations and processes were explored (peat granules, self-sticky peat for seed coating, emulsions and a powder containing spray dried microcapsules). Emulsions prepared with fresh broth of strain TA1 were very unstable under storage and after seed inoculation. Formulations where inoculated peat was used as the active ingredient were significantly more stable than those prepared with fresh broth. The strain CC275e was more tolerant to stress conditions generated during formulation and seed storage. Peat granules and peat inoculated seeds using strain CC275e maintained an acceptable loading of 108 CFU/g of granules or 105 CFU/g of seeds respectively, during six months of storage at room temperature. Strain CC275e inoculated on peat was also microencapsulated with a natural biopolymer by spray drying and after optimizing operational conditions, microparticles containing 107 CFU/g and a mean particle size between 10 and 30 micrometers were obtained. Survival of rhizobia during storage of the microcapsules is being assessed. The development of a stable product depends on selecting an active ingredient (microorganism), robust enough to tolerate some adverse conditions generated during formulation, storage, and commercialization and after its use in the field. However, the design and development of an adequate formulation, using compatible ingredients, optimization of the formulation process and selecting the appropriate delivery system, is possibly the best tool to overcome the poor survival of rhizobia and provide farmers with better quality inoculants to use.

Keywords: formulation, Rhizobium leguminosarum, storage stability, white clover

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Authors: Line Massé, Claire Baudry, Claudia Verret, Marie-France Nadeau, Anne Brault-Labbé

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Little research has been conducted on educational services adapted for twice exceptional students. Within an action research, a cluster grouping was set up in an elementary school in Quebec, bringing together gifted or doubly exceptional (2E) students (n = 11) and students not identified as gifted (n = 8) within a multilevel class (3ᵣ𝒹 and 4ₜₕ years). 2E students had either attention deficit hyperactivity disorder (n = 8, including 3 with specific learning disability) or autism spectrum disorder (n = 2). Differentiated instructions strategies were implemented, including the possibility of progressing at their own pace of learning, independent study or research projects, flexible accommodation, tutoring with older students and the development of socio-emotional learning. A specialized educator also supported the teacher in the class for behavioural and socio-affective aspects. Objectives: The study aimed to assess the impacts of the grouping on all students, their academic motivation, and their socio-emotional adaptation. Method: A mixed method was used, combining a qualitative approach with a quantitative approach. Semi-directed interviews were conducted with students (N = 18, 4 girls and 14 boys aged 8 to 9) and one of their parents (N = 18) at the end of the school year. Parents and students completed two questionnaires at the beginning and end of the school year: the Behavior Assessment System for Children-3, children or parents versions (BASC-3, Reynolds and Kampus, 2015) and the Academic Motivation in Education (Vallerand et al., 1993). Parents also completed the Multidimensional Student Life Satisfaction Scale (Huebner, 1994, adapted by Fenouillet et al., 2014) comprising three domains (school, friendships, and motivation). Mixed thematic analyzes were carried out on the data from the interviews using the N'Vivo software. Related-samples Wilcoxon rank-sums tests were conducted for the data from the questionnaires. Results: Different themes emerge from the students' comments, including a positive impact on school motivation or attitude toward school, improved school results, reduction of their behavioural difficulties and improvement of their social relations. These remarks were more frequent among 2E students. Most 2E students also noted an improvement in their academic performance. Most parents reported improvements in attitudes toward school and reductions in disruptive behaviours in the classroom. Some parents also observed changes in behaviours at home or in the socio-emotional well-being of their children, here again, particularly parents of 2E children. Analysis of questionnaires revealed significant differences at the end of the school year, more specifically pertaining to extrinsic motivation identified, problems of conduct, attention, emotional self-control, executive functioning, negative emotions, functional deficiencies, and satisfaction regarding friendships. These results indicate that this approach could benefit not only gifted and doubly exceptional students but also students not identified as gifted.

Keywords: Cluster grouping, elementary school, giftedness, mixed methods, twice exceptional students

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Authors: Nashwa Elyamany

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In visual cultures, namely that of the United States, media representations are such influential and pervasive reflections of societal norms and expectations to the extent that they impact the manner in which both genders view themselves. Health and fitness magazines fall within the realm of visual culture. Since the main goal of communication is to ensure proper dissemination of information in order for the target audience to grasp the intended messages, it becomes imperative that magazine publishers, editors, advertisers and image producers use different modes of communication within their reach to convey messages to their readers and viewers. A rapid waxing flow of multimodality floods popular discourse, particularly health and fitness magazine cover pages. The use of well-crafted cover lines and visual images is imbued with agendas, consumerist ideologies and properties capable of effectively conveying implicit and explicit meaning to potential readers and viewers. In essence, the primary goal of this thesis is to interrogate the multi-semiotic operations and manifestations of hegemonic masculinity and femininity in male and female body culture, particularly on the cover pages of the twin American magazines Men's Health and Women's Health using corpora that spanned from 2011 to the mid of 2016. The researcher explores the semiotic resources that contribute to shaping and legitimizing a new form of postmodern, consumerist, gendered discourse that positions the reader-viewer ideologically. Methodologically, the researcher carries out analysis on the macro and micro levels. On the macro level, the researcher takes on a critical stance to illuminate the ideological nature of the multimodal ensemble of the cover pages, and, on the micro level, seeks to put forward new theoretical and methodological routes through which the semiotic choices well invested on the media texts can be more objectively scrutinized. On the macro level, a 'themes' analysis is initially conducted to isolate the overarching themes that dominate the fitness discourse on the cover pages under study. It is argued that variation in terms of frequencies of such themes is indicative, broadly speaking, of which facets of hegemonic masculinity and femininity are infused in the fitness discourse on the cover pages. On the micro level, this research work encompasses three sub-levels of analysis. The researcher follows an SF-MMDA approach, drawing on a trio of analytical frameworks: Halliday's SFG for the verbal analysis; Kress & van Leeuween's VG for the visual analysis; and CMT in relation to Sperber & Wilson's RT for the pragma-cognitive analysis of multimodal metaphors and metonymies. The data is presented in terms of detailed descriptions in conjunction with frequency tables, ANOVA with alpha=0.05 and MANOVA in the multiple phases of analysis. Insights and findings from this multi-faceted, social-semiotic analysis are interpreted in light of Cultivation Theory, Self-objectification Theory and the literature to date. Implications for future research include the implementation of a multi-dimensional approach whereby linguistic and visual analytical models are deployed with special regards to cultural variation.

Keywords: gender, hegemony, magazine cover page, multimodal discourse analysis, multimodal metaphor, multimodal metonymy, systemic functional grammar, visual grammar

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Authors: Joseph Bertrand Iboum Kissaaka, Charles Fonyuy Ngum Tchioben, Paul Gustave Fowe Kwetche, Jeannette Ngo Elogan Ntem, Joseph Binyet Njebakal, Ribert Yvan Makosso-Tchapi, François Mvondo Owono, Marie Joseph Ntamak-Nida

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Located in the Gulf of Guinea, the Kribi-Campo sub-basin belongs to the Aptian salt basins along the West African Margin. In this paper, we investigated the tectono-stratigraphic architecture of the basin, focusing on the role of salt tectonics and strike-slip faults along the Kribi Fracture Zone with implications for reservoir prediction. Using 2D seismic data and well data interpreted through sequence stratigraphy with integrated seismic attributes analysis with Python Programming and unsupervised Machine Learning, at least six second-order sequences, indicating three main stages of tectono-stratigraphic evolution, were determined: pre-salt syn-rift, post-salt rift climax and post-rift stages. The pre-salt syn-rift stage with KTS1 tectonosequence (Barremian-Aptian) reveals a transform rifting along NE-SW transfer faults associated with N-S to NNE-SSW syn-rift longitudinal faults bounding a NW-SE half-graben filled with alluvial to lacustrine-fan delta deposits. The post-salt rift-climax stage (Lower to Upper Cretaceous) includes two second-order tectonosequences (KTS2 and KTS3) associated with the salt tectonics and Campo High uplift. During the rift-climax stage, the growth of salt diapirs developed syncline withdrawal basins filled by early forced regression, mid transgressive and late normal regressive systems tracts. The early rift climax underlines some fine-grained hangingwall fans or delta deposits and coarse-grained fans from the footwall of fault scarps. The post-rift stage (Paleogene to Neogene) contains at least three main tectonosequences KTS4, KTS5 and KTS6-7. The first one developed some turbiditic lobe complexes considered as mass transport complexes and feeder channel-lobe complexes cutting the unstable shelf edge of the Campo High. The last two developed submarine Channel Complexes associated with lobes towards the southern part and braided delta to tidal channels towards the northern part of the Kribi-Campo sub-basin. The reservoir distribution in the Kribi-Campo sub-basin reveals some channels, fan lobes reservoirs and stacked channels reaching up to the polygonal fault systems.

Keywords: tectono-stratigraphic architecture, Kribi-Campo sub-basin, machine learning, pre-salt sequences, post-salt sequences

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Authors: Jaci Marie Mastrandrea, Rosario Haro

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Background: The National Comprehensive Cancer Network (NCCN) recommends that healthcare institutions have established processes for integrating palliative care (PC) into cancer treatment and that all cancer patients be screened for PC needs upon initial diagnosis as well as throughout the entire continuum of care (National Comprehensive Cancer Network, 2021). Early PC screening and intervention is directly associated with improved patient outcomes. The Sky Lakes Cancer Treatment Center (SLCTC) is an institution that has access to PC services yet does not have protocols in place for identifying patients with palliative needs or a standardized referral process. The aim of this quality improvement project was to improve early access to PC services by establishing a standardized screening and referral process for outpatient oncology patients. Method: The sample population included all adult patients with an oncology diagnosis who presented to the SLCTC for treatment during the project timeline. The “Palliative and Supportive Needs Assessment'' (PSNA) screening tool was developed from validated, evidence-based PC referral criteria. The tool was initially implemented using paper forms, and data was collected over a period of eight weeks. Patients were screened by nurses on the SLCTC oncology treatment team. Nurses responsible for screening patients received an educational inservice prior to implementation. Patients with a PSNA score of three or higher received an educational handout on the topic of PC and education about PC and symptom management. A score of five or higher indicates that PC referral is strongly recommended, and the patient’s EHR is flagged for the oncology provider to review orders for PC referral. The PSNA tool was approved by Sky Lakes administration for full integration into Epic-Beacon. The project lead collaborated with the Sky Lakes’ information systems team and representatives from Epic on the tool’s aesthetic and functionality within the Epic system. SLCTC nurses and physicians were educated on how to document the PSNA within Epic and where to view results. Results: Prior to the implementation of the PSNA screening tool, the SLCTC had zero referrals to PC in the past year, excluding referrals to hospice. Data was collected from the completed screening assessments of 100 patients under active treatment at the SLCTC. Seventy-three percent of patients met criteria for PC referral with a score greater than or equal to three. Of those patients who met referral criteria, 53.4% (39 patients) were referred for a palliative and supportive care consultation. Patients that were not referred to PC upon meeting criteria were flagged in EPIC for re-screening within one to three months. Patients with lung cancer, chronic hematologic malignancies, breast cancer, and gastrointestinal malignancy most frequently met the criteria for PC referral and scored highest overall on the scale of 0-12. Conclusion: The implementation of a standardized PC screening tool at the SLCTC significantly increased awareness of PC needs among cancer patients in the outpatient setting. Additionally, data derived from this quality improvement project supports the national recommendation for PC to be an integral component of cancer treatment across the entire continuum of care.

Keywords: oncology, palliative and supportive care, symptom management, outpatient oncology, palliative screening tool

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Authors: Laetitia Lemiere, Marie Gosme, Gerard Subsol, Marc Jaeger

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Agroforestry is recognized as a way of developing sustainable and resilient agriculture that can fight against climate change. However, the number of species combinations, spatial configurations, and management options for trees and crops is vast. These choices must be adapted to the pedoclimatic and socio-economic contexts and to the objectives of the farmer, who therefore needs support in designing his system. Participative design workshops are a good way to integrate the knowledge of several experts in order to design such complex systems. The design of agroforestry systems should take into account both spatial aspects (e.g., spacing of trees within the lines and between lines, tree line orientation, tree-crop distance, species spatial patterns) and temporal aspects (e.g., crop rotations, tree thinning and pruning, tree planting in the case of successional agroforestry). Furthermore, the interactions between trees and crops evolve as the trees grow. However, agroforestry design workshops generally emphasize the spatial aspect only through the use of static tokens to represent the different species when designing the spatial configuration of the system. Augmented reality (AR) may overcome this limitation, allowing to visualize dynamic representations of trees and crops, and also their interactions, while at the same time retaining the possibility to physically interact with the system being designed (i.e., move trees, add or remove species, etc.). We propose an ergonomic digital solution capable of assisting a group of agroforestry experts to design an agroforestry system and to represent it. We investigated the use of web-based marker-based AR that does not require specific hardware and does not require specific installation so that all users could use their own smartphones right out of the pocket. We developed a prototype mobilizing the AR.js, ArToolKit.js, and Three.js open source libraries. In our implementation, we gradually build a virtual agroforestry system pattern scene from the users' interactions. A specific set of markers initialize the scene properties, and the various plant species are added and located during the workshop design session. The full virtual scene, including the trees positions with their neighborhood, are saved for further uses, such as virtual, augmented instantiation in the farmer fields. The number of tree species available in the application is gradually increasing; we mobilize 3D digital models for walnut, poplar, wild cherry, and other popular species used in agroforestry systems. The prototype allows shadow computations and the representation of trees at various growth stages, as well as different tree generations, and is thus able to visualize the dynamics of the system over time. Future work will focus on i) the design of complex patterns mobilizing several tree/shrub organizations, not restricted to lines; ii) the design of interfaces related to cultural practices, such as clearing or pruning; iii) the representation of tree-crop interactions. Beside tree shade (light competition), our objective is to represent also below-ground competitions (water, nitrogen) or other variables of interest for the design of agroforestry systems (e.g., predicted crop yield).

Keywords: agroforestry system design, augmented reality, marker-based AR, participative design, web-based AR

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Authors: Anna Marie Fisker, Daniele Sepe, Mette Bøgh Jensen, Daniela Rimei

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In the space of just a few years, the European policy framework on cultural heritage has been completely overhauled, moving towards a people-centred and holistic approach, and eliminating the divisions between the tangible, intangible and digital dimensions. The European Union regards cultural heritage as a potential shared resource, highlighting that all stakeholders share responsibility for its transmission to future generations. This new framework will potentially change the way in which cultural institutions manage, protect and provide access to their heritage. It will change the way in which citizens and communities engage with their cultural heritage and naturally influence the way that professionals deal with it. Participating in the creation of cultural heritage awareness can lead to an increased perception of its value, be it economic, social, environmental or cultural. It can also strengthen our personal identity, sense of belonging and community citizenship. Open Atelier, a Creative Europe project, is based on this foundation, with the goal through co-creation to develop the use, understanding and engagement with our cultural heritage. The project aim to transform selected parts of the heritage into an “experience lab” – an interactive, co-creative, dynamic and participatory space, where cultural heritage is the point of departure for new interactions and experiences between the audience and the museum and its professionals. Through a workshop-based approach built on interdisciplinary collaboration and co-creative processes, Open Atelier has started to design, develop, test, and evaluate a set of Experiences. The first collaborative initiative was set out in the discourse and knowledge of a highly creative period in Denmark where a specific group of Scandinavian artists, the Skagen Painters, gathered in the village of Skagen, the northernmost part of Denmark from the late 1870s until the turn of the century. The Art Museums of Skagen have a large collection of photos from the period, that has never been the subject of more thorough research. The photos display a variation of many different subjects: community, family photos, reproductions of art works, costume parties, family gatherings etc., and carry with them the energies of those peoples’ work and life and evoke instances of communication with the past. This paper is about how we in Open Atelier connect these special stories, this legacy, with another place, in another time, in another context and with another audience. The first Open Atelier Experience – the performance “Around the Lighthouse” – was an initiative resulted from the collaboration between AMAT, an Italian creative organisation, and the Art Museums of Skagen. A group of Italian artists developed a co-creative investigation and reinterpretation of a selection of these historical photos. A poetic journey through videos and voices, aimed at exploring new perspectives on the museum and its heritage. An experiment on how to create new ways to actively engage audiences in the way cultural heritage is explored, interpreted, mediated, presented, and used to examine contemporary issues. This article is about this experiment and its findings, and how different views and methodologies can be adopted to discuss the cultural heritage in museums around Europe and their connection to the community.

Keywords: cultural heritage, community, innovation, museums

Procedia PDF Downloads 79

Authors: Marie Guittonny-LarchevêQue

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In boreal Canada, industrial activities such as forestry, peat extraction and metal mines often occur nearby. At closure, mine waste storage facilities have to be reclaimed. On tailings storage facilities, tree plantations can achieve rapid restoration of forested landscapes. However, trees poorly grow in mine tailings and organic amendments like peat are required to improve tailings’ structure and nutrients. Canada is a well-known producer of horticultural quality peat, but some lower quality peats coming from areas adjacent to the reclaimed mines could allow successful revegetation. In particular, hemic peat coming from the bottom of peat-bogs is more decomposed than fibric peat and is less valued for horticulture. Moreover, forest peat is sometimes excavated and piled by the forest industry after cuttings to stimulate tree regeneration on the exposed mineral soil. The objective of this project was to compare the ability of peats of differing quality and origin to improve tailings structure, nutrients and tree development. A greenhouse experiment was conducted along one growing season in 2016 with a complete randomized block design combining 8 repetitions (blocks) x 2 tree species (Populus tremuloides and Pinus banksiana) x 6 substrates (tailings, commercial horticultural peat, and mixtures of tailings with commercial peat, forest peat, local fibric peat, or local hemic peat) x 2 fertilization levels (with or without mineral fertilization). The used tailings came from a gold mine and were low in sulfur and trace metals. The commercial peat had a slightly acidic pH (around 6) while other peats had a clearly acidic pH (around 3). However, mixing peat with slightly alkaline tailings resulted in a pH close to 7 whatever the tested peats. The macroporosity of mixtures was intermediate between the low values of tailings (4%) and the high values of commercial peat alone (34%). Seedling survival was lower on tailings for poplar compared to all other treatments, with or without fertilization. Survival and growth were similar among all treatments for pine. Fertilization had no impact on the maximal height and diameter of poplar seedlings but changed the relative performance of the substrates. When not fertilized, poplar seedlings grown in commercial peat were the highest and largest, and the smallest and slenderest in tailings, with intermediate values in mixtures. When fertilized, poplar seedlings grown in commercial peat were smaller and slender compared to all other substrates. However for this species, foliar, shoot, and root biomass production was the greatest in commercial peat and the lowest in tailings compared to all mixtures, whether fertilized or not. The mixture with local fibric peat provided the seedlings with the lowest foliar N concentrations compared to all other substrates whatever the species or the fertilization treatment. At the short-term, the performance of all the tested peats were close when mixed to tailings, showing that peats of lower quality could be valorized instead of using horticultural peat. These results demonstrate that intersectorial synergies in accordance with the principles of circular economy may be developed in boreal Canada between local industries around the reclamation of mine waste dumps.

Keywords: boreal trees, mine spoil, mine revegetation, intersectorial synergies

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Authors: Elena Ionescu, Elena Iacob, Marie-Louise Ionescu, Carmen Elena Tebrencu, Oana Teodora Ciuperca

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Echinacea species (Asteraceae) has received a global attention because it is widely used for treatment of cold, flu and upper respiratory tract infections. Echinacea species contain a great variety of chemical components that contribute to their activity. The most important components responsible for the biological activity are those with high molecular-weight such as polysaccharides, polyacetylenes, highly unsaturated alkamides and caffeic acid derivatives. The principal factors that may influence the chemical composition of Echinacea include the species and the part of plant used (aerial parts or roots ). In recent years the market for Echinacea has grown rapidly and also the cases of adultery/replacement especially for Echinacea root. The identification of presence or absence of same biomarkers provide information for safe use of Echinacea species in food supplements industry. The aim of the study was the preliminary evaluation and fingerprinting by UV-VISIBLE spectroscopy of biomarkers in terms of content in phenolic derivatives of some Echinacea species (E. purpurea, E. angustifolia and E. pallida) for identification and authentication of the species. The steps of the study were: (1) samples (extracts) preparation from Echinacea species (non-hydrolyzed and hydrolyzed ethanol extracts); (2) samples preparation of reference substances (polyphenol acids: caftaric acid, caffeic acid, chlorogenic acid, ferulic acid; flavonoids: rutoside, hyperoside, isoquercitrin and their aglycones: quercitri, quercetol, luteolin, kaempferol and apigenin); (3) identification of specific absorption at wavelengths between 700-200 nm; (4) identify the phenolic compounds from Echinacea species based on spectral characteristics and the specific absorption; each class of compounds corresponds to a maximum absorption in the UV spectrum. The phytochemical compounds were identified at specific wavelengths between 700-200 nm. The absorption intensities were measured. The obtained results proved that ethanolic extract showed absorption peaks attributed to: phenolic compounds (free phenolic acids and phenolic acids derivatives) registrated between 220-280 nm, unsymmetrical chemical structure compounds (caffeic acid, chlorogenic acid, ferulic acid) with maximum absorption peak and absorption "shoulder" that may be due to substitution of hydroxyl or methoxy group, flavonoid compounds (in free form or glycosides) between 330-360 nm, due to the double bond in position 2,3 and carbonyl group in position 4 flavonols. UV spectra showed two major peaks of absorption (quercetin glycoside, rutin, etc.). The results obtained by UV-VIS spectroscopy has revealed the presence of phenolic derivatives such as cicoric acid (240 nm), caftaric acid (329 nm), caffeic acid (240 nm), rutoside (205 nm), quercetin (255 nm), luteolin (235 nm) in all three species of Echinacea. The echinacoside is absent. This profile mentioned above and the absence of phenolic compound echinacoside leads to the conclusion that species harvested as Echinacea angustifolia and Echinacea pallida are Echinacea purpurea also; It can be said that preliminary fingerprinting of Echinacea species through correspondence with the phenolic derivatives profile can be achieved by UV-VIS spectroscopic investigation, which is an adequate technique for preliminary identification and authentication of Echinacea in medicinal herbs.

Keywords: Echinacea species, Fingerprinting, Phenolic compounds, UV-VIS spectroscopy

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Authors: Marie Boost

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Despite activation policies, forced personal initiative to step out of unemployment and a general prosper economic situation, poverty and financial hardship constitute a crucial role in the daily lives of many families in Germany. In 2015, ~16 million persons (20.2%) of the German population are at risk of poverty or social exclusion. This is illustrated by an unemployment rate of 13.3% in the research area, located in East Germany. Despite this high amount of persons living in vulnerable households, we know little about how they manage to stabilize their lives or even overcome poverty – apart from solely relying on welfare state benefits or entering in a stable, well-paid job. Most of them are struggling in precarious living circumstances, switching from one or several short-term, low-paid jobs into self-employment or unemployment, sometimes accompanied by welfare state benefits. Hence, insecurity and uncertain future expectation form a crucial part of their lives. Within the EU-funded project “RESCuE”, resilient practices of vulnerable households were investigated in nine European countries. Approximately, 15 expert interviews with policy makers, representatives from welfare state agencies, NGOs and charity organizations and 25 household interviews have been conducted within each country. It aims to find out more about the chances and conditions of social resilience. The research is based on the triangulation of biographical narrative interviews, followed by participatory photo interviews, asking the household members to portray their typical everyday life. The presentation is focusing on the explanatory strength of this mixed-methods approach in order to show the potential of household practices to overcome financial hardship. The methodological combination allows an in-depth analysis of the families and households everyday living circumstances, including their poverty and employment situation, whether formal and informal. Active household budgeting practices, such as saving and consumption practices are based on subsistence or Do-It-Yourself work. Especially due to the photo-interviews, the importance of inherent cultural and tacit knowledge becomes obvious as it pictures their typical practices, like cultivation and gathering fruits and vegetables or going fishing. One of the central findings is the multiple purposes of these practices. They contribute to ease financial burden through consumption reduction and strengthen social ties, as they are mostly conducted with close friends or family members. In general, non-commodified practices are found to be re-commodified and to contribute to ease financial hardship, e.g. by the use of commons, barter trade or simple mutual exchange (gift exchange). These practices can substitute external purchases and reduce expenses or even generate a small income. Mixing different income sources are found to be the most likely way out of poverty within the context of a precarious labor market. But these resilient household practices take its toll as they are highly preconditioned, and many persons put themselves into risk of overstressing themselves. Thus, the potentials and risks of resilient household practices are reflected in the presentation.

Keywords: consumption practices, labor market, qualitative research, resilience

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Authors: Marie Bountrogianni, Leonora Zefi, Krystle Phirangee, Naza Djafarova

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Faculty development is critical for any institution as it impacts students’ learning experiences and faculty performance with regards to course delivery. With that in mind, The Chang School at Ryerson University embarked on an initiative to develop a comprehensive, relevant faculty development program for online faculty and instructors. Teaching Adult Learners Online (TALO) is a professional development program designed to build capacity among online teaching faculty to enhance communication/facilitation skills for online instruction and establish a Community of Practice to allow for opportunities for online faculty to network and exchange ideas and experiences. TALO is comprised of four online modules and each module provides three hours of learning materials. The topics focus on online teaching and learning experience, principles and practices, opportunities and challenges in online assessments as well as course design and development. TALO offers a unique experience for online instructors who are placed in the role of a student and an instructor through interactivities involving discussions, hands-on assignments, peer mentoring while experimenting with technological tools available for their online teaching. Through exchanges and informal peer mentoring, a small interdisciplinary community of practice has started to take shape. Successful participants have to meet four requirements for completion: i) participate actively in online discussions and activities, ii) develop a communication plan for the course they are teaching, iii) design one learning activity/or media component, iv) design one online learning module. This study adopted a mixed methods exploratory sequential design. For the qualitative phase of this study, a thorough literature review was conducted on what constitutes effective faculty development programs. Based on that review, the design team identified desired competencies for online teaching/facilitation and course design. Once the competencies were identified, a focus group interview with The Chang School teaching community was conducted as a needs assessment and to validate the competencies. In the quantitative phase, questionnaires were distributed to instructors and faculty after the program was launched to continue ongoing evaluation and revisions, in hopes of further improving the program to meet the teaching community’s needs. Four faculty members participated in a one-hour focus group interview. Major findings from the focus group interview revealed that for the training program, faculty wanted i) to better engage students online, ii) to enhance their online teaching with specific strategies, iii) to explore different ways to assess students online. 91 faculty members completed the questionnaire in which findings indicated that: i) the majority of faculty stated that they gained the necessary skills to demonstrate instructor presence through communication and use of technological tools provided, ii) increased faculty confidence with course management strategies, iii) learning from peers is most effective – the Community of Practice is strengthened and valued even more as program alumni become facilitators. Although this professional development program is not mandatory for online instructors, since its launch in Fall 2014, over 152 online instructors have successfully completed the program. A Community of Practice emerged as a result of the program and participants continue to exchange thoughts and ideas about online teaching and learning.

Keywords: community of practice, customized, faculty development, inclusive design

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Authors: Manta Nowbuth, Marie Anais Kimberley Therese

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The vulnerability of coastal areas to storm surges stands as a critical global concern. The increasing frequency and intensity of extreme weather events have increased the risks faced by communities living along the coastlines Worldwide. Small Island developing states (SIDS) stands out as being exceptionally vulnerable, coastal regions, ecosystems of human habitation and natural forces, bear witness to the frontlines of climate-induced challenges, and the intensification of storm surges underscores the urgent need for a comprehensive understanding of coastal vulnerability. With limited landmass, low-lying terrains, and resilience on coastal resources, SIDS face an amplified vulnerability to the consequences of storm surges, the delicate balance between human activities and environmental dynamics in these island nations increases the urgency of tailored strategies for assessing and mitigating coastal vulnerability. This research uses an approach to evaluate the vulnerability of coastal communities in Mauritius. The Satellite imagery analysis makes use of sentinel satellite imageries, modified normalised difference water index, classification techniques and the DSAS add on to quantify the extent of shoreline erosion or accumulation, providing a spatial perspective on coastal vulnerability. The coastal Vulnerability Index (CVI) is applied by Gonitz et al Formula, this index considers factors such as coastal slope, sea level rise, mean significant wave height, and tidal range. Weighted assessments identify regions with varying levels of vulnerability, ranging from low to high. The study was carried out in a Village Located in the south of Mauritius, namely Rivière des Galets, with a population of about 500 people over an area of 60,000m². The Village of Rivière des Galets being located in the south, and the southern coast of Mauritius being exposed to the open Indian ocean, is vulnerable to swells, The swells generated by the South east trade winds can lead to large waves and rough sea conditions along the Southern Coastline which has an impact on the coastal activities, including fishing, tourism and coastal Infrastructures, hence, On the one hand, the results highlighted that from a stretch of 123km of coastline the linear rate regression for the 5 –year span varies from-24.1m/yr. to 8.2m/yr., the maximum rate of change in terms of eroded land is -24m/yr. and the maximum rate of accretion is 8.2m/yr. On the other hand, the coastal vulnerability index varies from 9.1 to 45.6 and it was categorised into low, moderate, high and very high risks zones. It has been observed that region which lacks protective barriers and are made of sandy beaches are categorised as high risks zone and hence it is imperative to high risk regions for immediate attention and intervention, as they will most likely be exposed to coastal hazards and impacts from climate change, which demands proactive measures for enhanced resilience and sustainable adaptation strategies.

Keywords: climate change, coastal vulnerability, disaster management, remote sensing, satellite imagery, storm surge

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Authors: Joanna Marie A. Paulino-Morente, Vaneza Valentina L. Penolio, Grace Sabado

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Ovarian cancer is extremely hard to diagnose in its early stages, and those afflicted at the time of diagnosis are typically asymptomatic and in the late stages of the disease, with metastasis to other organs. Ovarian cancers often occur sporadically, with only 5% associated with hereditary mutations. Mutations in the BRCA1 and BRCA2 tumor suppressor genes have been found to be responsible for the majority of hereditary ovarian cancers. One type of ovarian tumor is Malignant Mixed Mullerian Tumor (MMMT), which is a very rare and aggressive type, accounting for only 1% of all ovarian cancers. Reported is a case of a 43-year-old G3P3 (3003), who came into our institution due to a 2-month history of difficulty of breathing. Family history reveals that her eldest and younger sisters both died of ovarian malignancy, with her younger sister having a histopathology report of endometrioid ovarian carcinoma, left ovary stage IIIb. She still has 2 asymptomatic sisters. Physical examination pointed to pleural effusion of right lung, and presence of bilateral ovarian new growth, which had a Sassone score of 13. Admitting Diagnosis was G3P3 (3003), Ovarian New Growth, bilateral, Malignant; Pleural effusion secondary to malignancy. BRCA was requested to establish a hereditary mutation; however, the patient had no funds. Once the patient was stabilized, TAHBSO with surgical staging was performed. Intraoperatively, the pelvic cavity was occupied by firm, irregularly shaped ovaries, with a colorectal metastasis. Microscopic sections from both ovaries and the colorectal metastasis had pleomorphic tumor cells lined by cuboidal to columnar epithelium exhibiting glandular complexity, displaying nuclear atypia and increased nuclear-cytoplasmic ratio, which are infiltrating the stroma, consistent with the features of Malignant Mixed Mullerian Tumor, since MMMT is composed histologically of malignant epithelial and sarcomatous elements. In conclusion, discussed is the clinic-pathological feature of a patient with primary ovarian Malignant Mixed Mullerian Tumor, a rare malignancy comprising only 1% of all ovarian neoplasms. Also, by understanding the hereditary ovarian cancer syndromes and its relation to this patient, it cannot be overemphasized that a comprehensive family history is really fundamental for early diagnosis. The familial association of the disease, given that the patient has two sisters who were diagnosed with an advanced stage of ovarian cancer and succumbed to the disease at a much earlier age than what is reported in the general population, points to a possible hereditary syndrome which occurs in only 5% of ovarian neoplasms. In a low-resource setting, being in a third world country, the following will be recommended for monitoring and/or screening women who are at high risk for developing ovarian cancer, such as the remaining sisters of the patient: 1) Physical examination focusing on the breast, abdomen, and rectal area every 6 months. 2) Transvaginal sonography every 6 months. 3) Mammography annually. 4) CA125 for postmenopausal women. 5) Genetic testing for BRCA1 and BRCA2 will be reserved for those who are financially capable.

Keywords: BRCA, hereditary breast-ovarian cancer syndrome, malignant mixed mullerian tumor, ovarian cancer

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Authors: Marie-Helena Docherty, Sion Edryd Williams

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The prevalence of diabetes mellitus is increasing worldwide. In Sub-Saharan Africa, type 2 diabetes represents over 90% of all types of diabetes with the number of diabetic patients expected to rise. This represents a huge economic burden in an area already contending with high rates of other significant diseases, including the highest worldwide prevalence of HIV. Diabetic complications considerably impact on morbidity and mortality. The epidemiological data for the region quotes high rates of retinopathy (7-63%), neuropathy (27-66%) and microalbuminuria (10-83%). It is therefore imperative that diabetic screening programmes are established. It is recognised that in many parts of the developing world the implementation and management of such programmes is limited by a lack of available resources. The International Diabetes Federation produced guidelines in 2012 taking these limitations into account suggesting that all diabetic patients should have access to basic screening. These guidelines are consistent with the national diabetic guidelines produced by the Lesotho Medical Council. However, diabetic care in Lesotho is delivered at the local level, with variable levels of quality. A cross sectional study was performed in the outpatient department of Maluti Hospital in Mapoteng, Lesotho, a busy rural hospital in the Berea district. Demographic data on gender, age and modality of treatment were collected over a six-week time period. Information regarding 3 basic screening parameters was obtained. These parameters included eye screening (defined as a documented ophthalmology review within the last 12 months), foot screening (defined as a documented foot health assessment by any health care professional within the last 12 months) and secondary prevention (defined as a documented blood pressure and lipid profile reading within the last 12 months). These parameters were selected on the basis of the absolute minimum level of resources in Maluti Hospital. Renal screening was excluded, as the hospital does not have access to reliable renal profile checks or urinalysis. There is however a fully functioning on-site ophthalmology department run by a senior ophthalmologist with the ability to provide retinal photography, retinal surgery and photocoagulation therapy. Data was collected on 183 type 2 diabetics. 112 patients were male and 71 were female. The average age was 43 years. 4 patients were diet controlled, 140 patients were on oral hypoglycaemic agents (metformin and/or glibenclamide), and 39 patients were on a combination of insulin and oral hypoglycaemics. In the preceding 12 months, 5 patients had undergone eye screening (3%), 24 patients had undergone foot screening (13%), and 31 patients had lipid profile testing (17%). All patients had a documented blood pressure reading (100%). Our results show that screening is poorly performed in the basic indicators suggested by the IDF and the Lesotho Medical Council. On the basis of these results, a screening programme was developed using the mnemonic SaFE; secondary prevention, foot and eye care. This is simple, memorable and transferable between healthcare professionals. In the future, the expectation would be to expand upon this current programme to include renal screening, and to further develop screening pertaining to secondary prevention.

Keywords: Africa, complications, rural, screening

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Authors: Christelle Rabbat, Carole Vouebou, Sary Awad, Alan Jean-Marie

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Hydrogen has been proven to be a viable alternative to standard fuels as it is easy to produce and only generates water vapour and zero carbon emissions. However, despite the hydrogen benefits, the widespread adoption of hydrogen fuel cell vehicles and internal combustion engine vehicles is impeded by several challenges. The lack of refueling infrastructures remains one of the main hindering factors due to the high costs associated with their design, construction, and operation. Besides, the lack of hydrogen vehicles on the road diminishes the economic viability of investing in refueling infrastructure. Simultaneously, the absence of accessible refueling stations discourages consumers from adopting hydrogen vehicles, perpetuating a cycle of limited market uptake. To address these challenges, the implementation of adequate policies incentivizing the use of hydrogen vehicles and the reduction of the investment and operation costs of hydrogen refueling stations (HRS) are essential to put both investors and customers at ease. Even though the transition to hydrogen cars has been rather slow, public transportation companies have shown a keen interest in this highly promising fuel. Besides, their hydrogen demand is easier to predict and regulate than personal vehicles. Due to the reduced complexity of designing a suitable hydrogen supply chain for public vehicles, this sub-sector could be a great starting point to facilitate the adoption of hydrogen vehicles. Consequently, this study will focus on designing a chain of on-site green HRS for the public transportation network in Nantes Metropole leveraging the latest relevant technological advances aiming to reduce the costs while ensuring reliability, safety, and ease of access. To reduce the cost of HRS and encourage their widespread adoption, a network of 7 H35-T40 HRS has been designed, replacing the conventional J-T valves with turbo-expanders. Each station in the network has a daily capacity of 1,920 kg. Thus, the HRS network can produce up to 12.5 tH2 per day. The detailed cost analysis has revealed a CAPEX per station of 16.6 M euros leading to a network CAPEX of 116.2 M euros. The proposed station siting prioritized Nantes metropole’s 5 bus depots and included 2 city-centre locations. Thanks to the turbo-expander technology, the cooling capacity of the proposed HRS is 19% lower than that of a conventional station equipped with J-T valves, resulting in significant CAPEX savings estimated at 708,560 € per station, thus nearly 5 million euros for the whole HRS network. Besides, the turbo-expander power generation ranges from 7.7 to 112 kW. Thus, the power produced can be used within the station or sold as electricity to the main grid, which would, in turn, maximize the station’s profit. Despite the substantial initial investment required, the environmental benefits, cost savings, and energy efficiencies realized through the transition to hydrogen fuel cell buses and the deployment of HRS equipped with turbo-expanders offer considerable advantages for both TAN and Nantes Metropole. These initiatives underscore their enduring commitment to fostering green mobility and combatting climate change in the long term.

Keywords: green hydrogen, refueling stations, turbo-expander, heavy-duty vehicles

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Authors: Sami El Khatib, Agnès Leroux, Jean-Louis Merlin, François Guillemin, Marie-Ange D’Hallewin

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Photodynamic therapy (PDT) is a treatment modality based on the cytotoxic effect occurring on the target tissues by interaction of a photosensitizer with light in the presence of oxygen. One of the major advances in PDT can be attributed to the use of topical aminolevulinic (ALA) to induce Protoporphyrin IX (PpIX) for the treatment of early stage cancers as well as diagnosis. ALA is a precursor of the heme synthesis pathway. Locally delivered to the target tissue ALA overcomes the negative feedback exerted by heme and promotes the transient formation of PpIX in situ to reach critical effective levels in cells and tissue. Whereas early steps of the heme pathway occur in the cytosol, PpIX synthesis is shown to be held in the mitochondrial membranes and PpIX fluorescence is expected to accumulate in close vicinity of the initial building site and to progressively diffuse to the neighboring cytoplasmic compartment or other lipophylic organelles. PpIX is known to be highly reactive and will be degraded when irradiated with light. PpIX photobleaching is believed to be governed by a singlet oxygen mediated mechanism in the presence of oxidized amino acids and proteins. PpIX photobleaching and subsequent spectral phototransformation were described widely in tumor cells incubated in vitro with ALA solution, or ex vivo in human and porcine mucosa superfused with hexylaminolevulinate (hALA). PpIX photobleaching was also studied in vivo, using animal models such as normal or tumor mice skin and orthotopic rat bladder model. Hexyl aminolevulinate a more potent lipophilic derivative of ALA was proposed as an adjunct to standard cystoscopy in the fluorescence diagnosis of bladder cancer and other malignancies. We have previously reported the effectiveness of hALA mediated PDT of rat bladder cancer. Although normal and tumor bladder epithelium exhibit similar fluorescence intensities after intravesical instillation of two hALA concentrations (8 and 16 mM), the therapeutic response at 8mM and 20J/cm2 was completely different from the one observed at 16mM irradiated with the same light dose. Where the tumor is destroyed, leaving the underlying submucosa and muscle intact after an 8 mM instillation, 16mM sensitization and subsequent illumination results in the complete destruction of the underlying bladder wall but leaves the tumor undamaged. The object of the current study is to try to unravel the underlying mechanism for this apparent contradiction. PpIX extraction showed identical amounts of photosensitizer in tumor bearing bladders at both concentrations. Photobleaching experiments revealed mono-exponential decay curves in both situations but with a two times faster decay constant in case of 16mM bladders. Fluorescence microscopy shows an identical fluorescence pattern for normal bladders at both concentrations and tumor bladders at 8mM with bright spots. Tumor bladders at 16 mM exhibit a more diffuse cytoplasmic fluorescence distribution. The different response to PDT with regard to the initial pro-drug concentration can thus be attributed to the different cellular localization.

Keywords: bladder cancer, hexyl-aminolevulinate, photobleaching, confocal fluorescence microscopy

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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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