Search results for: Sylvie Graf
33 Majority through the Eyes of Minority: The Role of Social Norms in the Link between Intergroup Contact and Attitudes of the Roma toward Majority Society
Authors: Roman Koky, Sylvie Graf
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The relationship between the Roma and members of the majority is tense across Europe due to the fact that the Roma people are the most stigmatized minorities. Studies show that Roma is discriminated against on all levels of society. Improving intergroup relations between the Roma and members of the majority (i.e., non-Roma) is thus one of the most pressing issues of social psychological research. Intergroup contact theory is one of the most effective strategies for improving intergroup relations. However, current research has some limitations, such as the fact that most researchers focus primarily on the perspective of the majority, while the perspective of minorities (e.g., the Roma) is largely missing. Due to the persisting segregation of Roma, and thus the lack of opportunities for direct intergroup contact between the Roma and the majority, using direct intergroup contact as an intervention to reduce prejudice is difficult. In this research, we, therefore, focused on the effect of indirect forms of intergroup contact, particularly extended contact (i.e., experiences with outgroup members shared by fellow ingroup members such as friends or family). Extended contact functions as a descriptive social norm that informs about the actual amount of contact in one’s environment. In a group of Czech Roma (N = 226), the descriptive social norm was associated with ingroup injunctive social norm (e.g., the perceived support of intergroup contact with non-Roma by fellow ingroup members) and lower amount of prejudice toward the non-Roma. We discuss the findings with respect to possibilities to improve the relations between Roma and members of the majority across Europe.Keywords: intergroup contact, prejudice, majority, minority, social norms
Procedia PDF Downloads 11532 Centralizing the Teaching Process in Intelligent Tutoring System Architectures
Authors: Nikolaj Troels Graf Von Malotky, Robin Nicolay, Alke Martens
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There exist a plethora of architectures for ITSs (Intelligent Tutoring Systems). A thorough analysis and comparison of the architectures revealed, that in most cases the architecture extensions are evolutionary grown, reflecting state of the art trends of each decade. However, from the perspective of software engineering, the main aspect of an ITS has not been reflected in any of these architectures, yet. From the perspective of cognitive research, the construction of the teaching process is what makes an ITS 'intelligent' regarding the spectrum of interaction with the students. Thus, in our approach, we focus on a behavior based architecture, which is based on the main teaching processes. To create a new general architecture for ITS, we have to define the prerequisites. This paper analyzes the current state of the existing architectures and derives rules for the behavior of ITS. It is presenting a teaching process for ITSs to be used together with the architecture.Keywords: intelligent tutoring, ITS, tutoring process, system architecture, interaction process
Procedia PDF Downloads 38631 Exploring Antifragility Principles in Humanitarian Supply Chain: The key Role of Information Systems
Authors: Sylvie Michel, Sylvie Gerbaix, Marc Bidan
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The COVID-19 pandemic has been a major and global disruption that has affected all supply chains on a worldwide scale. Consequently, the question posed by this communication is to understand how - in the face of such disruptions - supply chains, including their actors, management tools, and processes, react, survive, adapt, and even improve. To do so, the concepts of resilience and antifragility applied to a supply chain have been leveraged. This article proposes to perceive resilience as a step to surpass in moving towards antifragility. The research objective is to propose an analytical framework to measure and compare resilience and antifragility, with antifragility seen as a property of a system that improves when subjected to disruptions rather than merely resisting these disruptions, as is the case with resilience. A unique case study was studied - MSF logistics (France) - using a qualitative methodology. Semi-structured interviews were conducted in person and remotely in multiple phases: during and immediately after the COVID crisis (8 interviews from March 2020 to April 2021), followed by a new round from September to November 2023. A Delphi method was employed. The interviews were analyzed using coding and a thematic framework. One of the theoretical contributions is consolidating the field of supply chain resilience research by precisely characterizing the dimensions of resilience for a humanitarian supply chain (Reorganization, Collaboration mediated by IS, Humanitarian culture). In this regard, a managerial contribution of this study is providing a guide for managers to identify the four dimensions and sub-dimensions of supply chain resilience. This enables managers to focus their decisions and actions on dimensions that will enhance resilience. Most importantly, another contribution is comparing the concepts of resilience and antifragility and proposing an analytical framework for antifragility—namely, the mechanisms on which MSF logistics relied to capitalize on uncertainties, contingencies, and shocks rather than simply enduring them. For MSF Logistics, antifragility manifested through the ability to identify opportunities hidden behind the uncertainties and shocks of COVID-19, reducing vulnerability, and fostering a culture that encourages innovation and the testing of new ideas. Logistics, particularly in the humanitarian domain, must be able to adapt to environmental disruptions. In this sense, this study identifies and characterizes the dimensions of resilience implemented by humanitarian logistics. Moreover, this research goes beyond the concept of resilience to propose an analytical framework for the concept of antifragility. The organization studied emerged stronger from the COVID-19 crisis due to the mechanisms we identified, allowing us to characterize antifragility. Finally, the results show that the information system plays a key role in antifragility.Keywords: antifragility, humanitarian supply chain, information systems, qualitative research, resilience.
Procedia PDF Downloads 6430 Constrained RGBD SLAM with a Prior Knowledge of the Environment
Authors: Kathia Melbouci, Sylvie Naudet Collette, Vincent Gay-Bellile, Omar Ait-Aider, Michel Dhome
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In this paper, we handle the problem of real time localization and mapping in indoor environment assisted by a partial prior 3D model, using an RGBD sensor. The proposed solution relies on a feature-based RGBD SLAM algorithm to localize the camera and update the 3D map of the scene. To improve the accuracy and the robustness of the localization, we propose to combine in a local bundle adjustment process, geometric information provided by a prior coarse 3D model of the scene (e.g. generated from the 2D floor plan of the building) along with RGBD data from a Kinect camera. The proposed approach is evaluated on a public benchmark dataset as well as on real scene acquired by a Kinect sensor.Keywords: SLAM, global localization, 3D sensor, bundle adjustment, 3D model
Procedia PDF Downloads 41529 Everyday Solitude, Affective Experiences, and Well-Being in Old Age: The Role of Culture versus Immigration
Authors: Da Jiang, Helene H. Fung, Jennifer C. Lay, Maureen C. Ashe, Peter Graf, Christiane A. Hoppmann
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Being alone is often equated with loneliness. Yet, recent findings suggest that the objective state of being alone (i.e., solitude) can have both positive and negative connotations. The present research aimed to examine (1) affective experience in daily solitude; and (2) the association between everyday affect in solitude and well-being. We examined the distinct roles of culture and immigration in moderating these associations. Using up to 35 daily life assessments of momentary affect, solitude, and emotional well-being in two samples (Vancouver, Canada, and China), the study compared older adults who aged in place (local Caucasians in Vancouver Canada and local Hong Kong Chinese in Hong Kong, China) and older adults of different cultural heritages who immigrated to Canada (immigrated Caucasians and immigrated East Asians). We found that older adults of East Asian heritage experienced more positive and less negative affect when alone than did Caucasians. Reporting positive affect in solitude was more positively associated with well-being in older adults who had immigrated to Canada as compared to those who had aged in place. These findings speak to the unique effects of culture and immigration on the affective correlates of solitude and their associations with well-being in old age.Keywords: solitude, emotion, age, immigration, culture
Procedia PDF Downloads 18528 Characterising the Processes Underlying Emotion Recognition Deficits in Adolescents with Conduct Disorder
Authors: Nayra Martin-Key, Erich Graf, Wendy Adams, Graeme Fairchild
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Children and adolescents with Conduct Disorder (CD) have been shown to demonstrate impairments in emotion recognition, but it is currently unclear whether this deficit is related to specific emotions or whether it represents a global deficit in emotion recognition. An emotion recognition task with concurrent eye-tracking was employed to further explore this relationship in a sample of male and female adolescents with CD. Participants made emotion categorization judgements for presented dynamic and morphed static facial expressions. The results demonstrated that males with CD, and to a lesser extent, females with CD, displayed impaired facial expression recognition in general, whereas callous-unemotional (CU) traits were linked to specific problems in sadness recognition in females with CD. A region-of-interest analysis of the eye-tracking data indicated that males with CD exhibited reduced fixation times for the eye-region of the face compared to typically-developing (TD) females, but not TD males. Females with CD did not show reduced fixation to the eye-region of the face relative to TD females. In addition, CU traits did not influence CD subjects’ attention to the eye-region of the face. These findings suggest that the emotion recognition deficits found in CD males, the worst performing group in the behavioural tasks, are partly driven by reduced attention to the eyes.Keywords: attention, callous-unemotional traits, conduct disorder, emotion recognition, eye-region, eye-tracking, sex differences
Procedia PDF Downloads 32427 Neural Network Approaches for Sea Surface Height Predictability Using Sea Surface Temperature
Authors: Luther Ollier, Sylvie Thiria, Anastase Charantonis, Carlos E. Mejia, Michel Crépon
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Sea Surface Height Anomaly (SLA) is a signature of the sub-mesoscale dynamics of the upper ocean. Sea Surface Temperature (SST) is driven by these dynamics and can be used to improve the spatial interpolation of SLA fields. In this study, we focused on the temporal evolution of SLA fields. We explored the capacity of deep learning (DL) methods to predict short-term SLA fields using SST fields. We used simulated daily SLA and SST data from the Mercator Global Analysis and Forecasting System, with a resolution of (1/12)◦ in the North Atlantic Ocean (26.5-44.42◦N, -64.25–41.83◦E), covering the period from 1993 to 2019. Using a slightly modified image-to-image convolutional DL architecture, we demonstrated that SST is a relevant variable for controlling the SLA prediction. With a learning process inspired by the teaching-forcing method, we managed to improve the SLA forecast at five days by using the SST fields as additional information. We obtained predictions of a 12 cm (20 cm) error of SLA evolution for scales smaller than mesoscales and at time scales of 5 days (20 days), respectively. Moreover, the information provided by the SST allows us to limit the SLA error to 16 cm at 20 days when learning the trajectory.Keywords: deep-learning, altimetry, sea surface temperature, forecast
Procedia PDF Downloads 9026 A Posteriori Trading-Inspired Model-Free Time Series Segmentation
Authors: Plessen Mogens Graf
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Within the context of multivariate time series segmentation, this paper proposes a method inspired by a posteriori optimal trading. After a normalization step, time series are treated channelwise as surrogate stock prices that can be traded optimally a posteriori in a virtual portfolio holding either stock or cash. Linear transaction costs are interpreted as hyperparameters for noise filtering. Trading signals, as well as trading signals obtained on the reversed time series, are used for unsupervised channelwise labeling before a consensus over all channels is reached that determines the final segmentation time instants. The method is model-free such that no model prescriptions for segments are made. Benefits of proposed approach include simplicity, computational efficiency, and adaptability to a wide range of different shapes of time series. Performance is demonstrated on synthetic and real-world data, including a large-scale dataset comprising a multivariate time series of dimension 1000 and length 2709. Proposed method is compared to a popular model-based bottom-up approach fitting piecewise affine models and to a recent model-based top-down approach fitting Gaussian models and found to be consistently faster while producing more intuitive results in the sense of segmenting time series at peaks and valleys.Keywords: time series segmentation, model-free, trading-inspired, multivariate data
Procedia PDF Downloads 13625 Accountability of Artificial Intelligence: An Analysis Using Edgar Morin’s Complex Thought
Authors: Sylvie Michel, Sylvie Gerbaix, Marc Bidan
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Artificial intelligence (AI) can be held accountable for its detrimental impacts. This question gains heightened relevance given AI's pervasive reach across various domains, magnifying its power and potential. The expanding influence of AI raises fundamental ethical inquiries, primarily centering on biases, responsibility, and transparency. This encompasses discriminatory biases arising from algorithmic criteria or data, accidents attributed to autonomous vehicles or other systems, and the imperative of transparent decision-making. This article aims to stimulate reflection on AI accountability, denoting the necessity to elucidate the effects it generates. Accountability comprises two integral aspects: adherence to legal and ethical standards and the imperative to elucidate the underlying operational rationale. The objective is to initiate a reflection on the obstacles to this "accountability," facing the challenges of the complexity of artificial intelligence's system and its effects. Then, this article proposes to mobilize Edgar Morin's complex thought to encompass and face the challenges of this complexity. The first contribution is to point out the challenges posed by the complexity of A.I., with fractional accountability between a myriad of human and non-human actors, such as software and equipment, which ultimately contribute to the decisions taken and are multiplied in the case of AI. Accountability faces three challenges resulting from the complexity of the ethical issues combined with the complexity of AI. The challenge of the non-neutrality of algorithmic systems as fully ethically non-neutral actors is put forward by a revealing ethics approach that calls for assigning responsibilities to these systems. The challenge of the dilution of responsibility is induced by the multiplicity and distancing between the actors. Thus, a dilution of responsibility is induced by a split in decision-making between developers, who feel they fulfill their duty by strictly respecting the requests they receive, and management, which does not consider itself responsible for technology-related flaws. Accountability is confronted with the challenge of transparency of complex and scalable algorithmic systems, non-human actors self-learning via big data. A second contribution involves leveraging E. Morin's principles, providing a framework to grasp the multifaceted ethical dilemmas and subsequently paving the way for establishing accountability in AI. When addressing the ethical challenge of biases, the "hologrammatic" principle underscores the imperative of acknowledging the non-ethical neutrality of algorithmic systems inherently imbued with the values and biases of their creators and society. The "dialogic" principle advocates for the responsible consideration of ethical dilemmas, encouraging the integration of complementary and contradictory elements in solutions from the very inception of the design phase. Aligning with the principle of organizing recursiveness, akin to the "transparency" of the system, it promotes a systemic analysis to account for the induced effects and guides the incorporation of modifications into the system to rectify deviations and reintroduce modifications into the system to rectify its drifts. In conclusion, this contribution serves as an inception for contemplating the accountability of "artificial intelligence" systems despite the evident ethical implications and potential deviations. Edgar Morin's principles, providing a lens to contemplate this complexity, offer valuable perspectives to address these challenges concerning accountability.Keywords: accountability, artificial intelligence, complexity, ethics, explainability, transparency, Edgar Morin
Procedia PDF Downloads 6324 Results of Longitudinal Assessments of Very Low Birth Weight and Extremely Low Birth Weight Infants
Authors: Anett Nagy, Anna Maria Beke, Rozsa Graf, Magda Kalmar
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Premature birth involves developmental risks – the earlier the baby is born and the lower its birth weight, the higher the risks. The developmental outcomes for immature, low birth weight infants are hard to predict. Our aim is to identify the factors influencing infant and preschool-age development in very low birth weight (VLBW) and extremely low birth weight (ELBW) preterms. Sixty-one subjects participated in our longitudinal study, which consisted of thirty VLBW and thirty-one ELBW children. The psychomotor development of the infants was assessed using the Brunet-Lezine Developmental Scale at the corrected ages of one and two years; then at three years of age, they were tested with the WPPSI-IV IQ test. Birth weight, gestational age, perinatal complications, gender, and maternal education, were added to the data analysis as independent variables. According to our assessments, our subjects as a group scored in the average range in each subscale of the Brunet-Lezine Developmental Scale. The scores were the lowest in language at both measurement points. The children’s performances improved between one and two years of age, particularly in the domain of coordination. At three years of age the mean IQ test results, although still in the average range, were near the low end of it in each index. The ELBW preterms performed significantly poorer in Perceptual Reasoning Index. The developmental level at two years better predicted the IQ than that at one year. None of the measures distinguished the genders.Keywords: preterm, extremely low birth-weight, perinatal complication, psychomotor development, intelligence, follow-up
Procedia PDF Downloads 24523 Young’s Modulus Variability: Influence on Masonry Vault Behavior
Authors: Abdelmounaim Zanaz, Sylvie Yotte, Fazia Fouchal, Alaa Chateauneuf
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This paper presents a methodology for probabilistic assessment of bearing capacity and prediction of failure mechanism of masonry vaults at the ultimate state with consideration of the natural variability of Young’s modulus of stones. First, the computation model is explained. The failure mode is the most reported mode, i.e. the four-hinge mechanism. Based on this assumption, the study of a vault composed of 16 segments is presented. The Young’s modulus of the segments is considered as random variable defined by a mean value and a coefficient of variation CV. A relationship linking the vault bearing capacity to the modulus variation of voussoirs is proposed. The failure mechanisms, in addition to that observed in the deterministic case, are identified for each CV value as well as their probability of occurrence. The results show that the mechanism observed in the deterministic case has decreasing probability of occurrence in terms of CV, while the number of other mechanisms and their probability of occurrence increase with the coefficient of variation of Young’s modulus. This means that if a significant change in the Young modulus of the segments is proven, taken it into account in computations becomes mandatory, both for determining the vault bearing capacity and for predicting its failure mechanism.Keywords: masonry, mechanism, probability, variability, vault
Procedia PDF Downloads 44322 An Automatic Bayesian Classification System for File Format Selection
Authors: Roman Graf, Sergiu Gordea, Heather M. Ryan
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This paper presents an approach for the classification of an unstructured format description for identification of file formats. The main contribution of this work is the employment of data mining techniques to support file format selection with just the unstructured text description that comprises the most important format features for a particular organisation. Subsequently, the file format indentification method employs file format classifier and associated configurations to support digital preservation experts with an estimation of required file format. Our goal is to make use of a format specification knowledge base aggregated from a different Web sources in order to select file format for a particular institution. Using the naive Bayes method, the decision support system recommends to an expert, the file format for his institution. The proposed methods facilitate the selection of file format and the quality of a digital preservation process. The presented approach is meant to facilitate decision making for the preservation of digital content in libraries and archives using domain expert knowledge and specifications of file formats. To facilitate decision-making, the aggregated information about the file formats is presented as a file format vocabulary that comprises most common terms that are characteristic for all researched formats. The goal is to suggest a particular file format based on this vocabulary for analysis by an expert. The sample file format calculation and the calculation results including probabilities are presented in the evaluation section.Keywords: data mining, digital libraries, digital preservation, file format
Procedia PDF Downloads 49921 The Role of Self-Regulation and Assessment Feedback on Creative Performance
Authors: Sylvie Studente, Filia J. Garivaldis
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The emotions and cognitions that underpin creative performance have been of interest for decades if not centuries, however, research evidence has still not conclusively offered reliable predictors of creativity. It is unclear whether stressors are detrimental to creative thinking, or whether some stress imposes necessary constraints to facilitate the creative process. The present research aims to examine the role of individual differences in self-regulation in influencing the links between emotions, cognitions, and creativity. Self-regulation is the capacity to disengage from moods that inhibit goal progress, and cope with failure, focus on impending intentions, and enhance the intrinsic appeal of tasks. Therefore, it is anticipated that individuals with an intuitive ability in self-regulation are able to harness their emotions and cognitions, to perform well on a creative task. In contrast, individuals with a deficiency in self-regulation will experience difficulty in such a task. Furthermore, stress in the form of positive and negative assessment feedback in the context of education will be manipulated to explore the interactive effects of environmental and individual difference factors on creative performance. The results will provide insight into the underlying factors associated with emotions and creativity, and inform future research in individual differences in cognition and emotion, and environmental triggers of creativity.Keywords: creativity, feedback, self-regulation, stress
Procedia PDF Downloads 47420 A Tool for Facilitating an Institutional Risk Profile Definition
Authors: Roman Graf, Sergiu Gordea, Heather M. Ryan
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This paper presents an approach for the easy creation of an institutional risk profile for endangerment analysis of file formats. The main contribution of this work is the employment of data mining techniques to support risk factors set up with just the most important values that are important for a particular organisation. Subsequently, the risk profile employs fuzzy models and associated configurations for the file format metadata aggregator to support digital preservation experts with a semi-automatic estimation of endangerment level for file formats. Our goal is to make use of a domain expert knowledge base aggregated from a digital preservation survey in order to detect preservation risks for a particular institution. Another contribution is support for visualisation and analysis of risk factors for a requried dimension. The proposed methods improve the visibility of risk factor information and the quality of a digital preservation process. The presented approach is meant to facilitate decision making for the preservation of digital content in libraries and archives using domain expert knowledge and automatically aggregated file format metadata from linked open data sources. To facilitate decision-making, the aggregated information about the risk factors is presented as a multidimensional vector. The goal is to visualise particular dimensions of this vector for analysis by an expert. The sample risk profile calculation and the visualisation of some risk factor dimensions is presented in the evaluation section.Keywords: digital information management, file format, endangerment analysis, fuzzy models
Procedia PDF Downloads 40619 The Evaluation of Current Pile Driving Prediction Methods for Driven Monopile Foundations in London Clay
Authors: John Davidson, Matteo Castelletti, Ismael Torres, Victor Terente, Jamie Irvine, Sylvie Raymackers
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The current industry approach to pile driving predictions consists of developing a model of the hammer-pile-soil system which simulates the relationship between soil resistance to driving (SRD) and blow counts (or pile penetration per blow). The SRD methods traditionally used are broadly based on static pile capacity calculations. The SRD is used in combination with the one-dimensional wave equation model to indicate the anticipated blowcounts with depth for specific hammer energy settings. This approach has predominantly been calibrated on relatively long slender piles used in the oil and gas industry but is now being extended to allow calculations to be undertaken for relatively short rigid large diameter monopile foundations. This paper evaluates the accuracy of current industry practice when applied to a site where large diameter monopiles were installed in predominantly stiff fissured clay. Actual geotechnical and pile installation data, including pile driving records and signal matching analysis (based upon pile driving monitoring techniques), were used for the assessment on the case study site.Keywords: driven piles, fissured clay, London clay, monopiles, offshore foundations
Procedia PDF Downloads 22518 A Bayesian Classification System for Facilitating an Institutional Risk Profile Definition
Authors: Roman Graf, Sergiu Gordea, Heather M. Ryan
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This paper presents an approach for easy creation and classification of institutional risk profiles supporting endangerment analysis of file formats. The main contribution of this work is the employment of data mining techniques to support set up of the most important risk factors. Subsequently, risk profiles employ risk factors classifier and associated configurations to support digital preservation experts with a semi-automatic estimation of endangerment group for file format risk profiles. Our goal is to make use of an expert knowledge base, accuired through a digital preservation survey in order to detect preservation risks for a particular institution. Another contribution is support for visualisation of risk factors for a requried dimension for analysis. Using the naive Bayes method, the decision support system recommends to an expert the matching risk profile group for the previously selected institutional risk profile. The proposed methods improve the visibility of risk factor values and the quality of a digital preservation process. The presented approach is designed to facilitate decision making for the preservation of digital content in libraries and archives using domain expert knowledge and values of file format risk profiles. To facilitate decision-making, the aggregated information about the risk factors is presented as a multidimensional vector. The goal is to visualise particular dimensions of this vector for analysis by an expert and to define its profile group. The sample risk profile calculation and the visualisation of some risk factor dimensions is presented in the evaluation section.Keywords: linked open data, information integration, digital libraries, data mining
Procedia PDF Downloads 42817 Efficient Production of Cell-Adhesive Motif From Human Fibronectin Domains to Design a Bio-Functionalized Scaffold for Tissue Engineering
Authors: Amina Ben Abla, Sylvie Changotade, Geraldine Rohman, Guilhem Boeuf, Cyrine Dridi, Ahmed Elmarjou, Florence Dufour, Didier Lutomski, Abdellatif Elm’semi
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Understanding cell adhesion and interaction with the extracellular matrix is essential for biomedical and biotechnological applications, including the development of biomaterials. In recent years, numerous biomaterials have emerged and were used in the field of tissue engineering. Nevertheless, the lack of interaction of biomaterials with cells still limits their bio-integration. Thus, the design of bioactive biomaterials to improve cell attachment and proliferation is of growing interest. In this study, bio-functionalized material was developed combining a synthetic polymer scaffold surface with selected domains of type III human fibronectin (FNIII-DOM) to promote cell adhesion and proliferation. Bioadhesive ligand includes cell-binding domains of human fibronectin, a major ECM protein that interacts with a variety of integrins cell-surface receptors, and ECM proteins through specific binding domains were engineered. FNIII-DOM was produced in bacterial system E. coli in 5L fermentor with a high yield level reaching 20mg/L. Bioactivity of the produced fragment was validated by studying cellular adhesion of human cells. The adsorption and immobilization of FNIII-DOM onto the polymer scaffold were evaluated in order to develop an innovative biomaterial.Keywords: biomaterials, cellular adhesion, fibronectin, tissue engineering
Procedia PDF Downloads 15416 Theoretical Investigation of the Singlet and Triplet Electronic States of ⁹⁰ZrS Molecules
Authors: Makhlouf Sandy, Adem Ziad, Taher Fadia, Magnier Sylvie
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The electronic structure of 90ZrS has been investigated using Ab-initio methods based on Complete Active Space Self Consistent Field and Multi-reference Configuration Interaction (CASSCF/MRCI). The number of predicted states has been extended to 14 singlet and 12 triplet lowest-lying states situated below 36000cm-1. The equilibrium energies of these 26 lowest-lying electronic states have been calculated in the 2S+1Λ(±) representation. The potential energy curves have been plotted in function of the inter-nuclear distances in a range of 1.5 to 4.5Å. Spectroscopic constants, permanent electric dipole moments and transition dipole moments between the different electronic states have also been determined. A discrepancy error of utmost 5% for the majority of values shows a good agreement with available experimental data. The ground state is found to be of symmetry X1Σ+ with an equilibrium inter-nuclear distance Re= 2.16Å. However, the (1)3Δ is the closest state to X1Σ+ and is situated at 514 cm-1. To the best of our knowledge, this is the first time that the spin-orbit coupling has been investigated for all the predicted states of ZrS. 52 electronic components in the Ω(±) representation have been predicted. The energies of these components, the spectroscopic constants ωe, ωeχe, βe and the equilibrium inter-nuclear distances have been also obtained. The percentage composition of the Ω state wave-functions in terms of S-Λ states was calculated to identify their corresponding main parents. These (SOC) calculations have determined the shift between (1)3Δ1 and X1Σ+ states and confirmed the ground state type being 1Σ+.Keywords: CASSCF/MRCI, electronic structure, spin-orbit effect, zirconium monosulfide
Procedia PDF Downloads 16815 Low Enrollment in Antiretroviral Treatment among Pregnant Women Screened HIV Infected in Informal Health Centers in Cameroon
Authors: Lydie Audrey Amboua Schouame, Sylvie Kwedi Nolna, Antoine Socpa, Alexandre Benjamin Nkoum
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Background: Despite the struggle of the Cameroonian Ministry of Public Health against informal health centers (IHCs) because of their illegality, IHCs are booming in Cameroon and a large part of the population uses them. In 2017, more than 3.000 IHCs were counted across the country. Most of these IHCs have antenatal clinics and they screen pregnant women for HIV. However, there is no data on the Prevention of Mother-To-Child Transmission of HIV (PMTCT) in this informal health sector in Cameroon. This study aimed to investigate the initiation of Antiretroviral treatment (ART) in pregnant women screened HIV positive in IHCs and associated factors. Methods: From January 01, 2018, to June 30, 2020, we carried out a cohort study of pregnant women attending their first antenatal visit and screened HIV positive in informal health centers in the cities of Douala and Ebolowa in Cameroon. Consenting participants were interviewed at two points: at least one week after delivery of the HIV result and three months later. The collected data were entered into Kobo collected and analyzed in SPSS V23.0 software. Results: A total of 182 HIV-infected pregnant women were enrolled in the study. The median age at enrollment was 30 years (IQR, 24-34) and the median gestational age at first ANC was 25 weeks (IQR, 19-31). Overall 61% (111/182) had a secondary level of education, 65% (118/182) were married/in a common-law relationship and 69% (126/182) had no income activity. At their first ANC, 91% (166/182) were naïve to ARV treatment. Among them, only 45% (74/166) initiated ART. The median delay in initiating ARV treatment was 5 days (IQR, 0-25). Of those who have started ART, only 64% (48/74) remained on treatment 3 months later. Conclusion: In order to eliminate mother-to-child transmission of HIV, attention should be paid to IHCs.Keywords: informal health centers, human immunodeficiency, antiretroviral treatment, pregnant women
Procedia PDF Downloads 15614 Parameter and Lose Effect Analysis of Beta Stirling Cycle Refrigerating Machine
Authors: Muluken Z. Getie, Francois Lanzetta, Sylvie Begot, Bimrew T. Admassu
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This study is aimed at the numerical analysis of the effects of phase angle and losses (shuttle heat loss and gas leakage to the crankcase) that could have an impact on the pressure and temperature of working fluid for a β-type Stirling cycle refrigerating machine. First, the developed numerical model incorporates into the ideal adiabatic analysis, the shuttle heat transfer (heat loss from compression space to expansion space), and gas leakage from the working space to the buffer space into the crankcase. The other losses that may not have a direct effect on the temperature and pressure of working fluid are simply incorporated in a simple analysis. The model is then validated by reversing the model to the engine model and compared with other literature results using (GPU-3) engine. After validating the model with other engine model and experiment results, analysis of the effect of phase angle, shuttle heat lose and gas leakage on temperature, pressure, and performance (power requirement, cooling capacity and coefficient of performance) of refrigerating machine considering the FEMTO 60 Stirling engine as a case study have been conducted. Shuttle heat loss has a greater effect on the temperature of working gas; gas leakage to the crankcase has more effect on the pressure of working spaces and hence both have a considerable impact on the performance of the Stirling cycle refrigerating machine. The optimum coefficient of performance exists between phase angles of 900-950, and optimum cooling capacity could be found between phase angles of 950-980.Keywords: beta configuration, engine model, moderate cooling, stirling refrigerator, and validation
Procedia PDF Downloads 10213 Self-Esteem in Troubled Gifted and Non-Gifted Children and Adolescents: Comparison within a French Population
Authors: Macarena-Paz Celume, Sylvie Tordjman
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There is still no consensus regarding the differences between gifted and non-gifted students in relationship to their self-esteem and the impact that this might have on behavioral and emotional troubles. In fact, some studies present no difference between both groups or present gifted population having higher scores in self-esteem, while others indicate all the opposite, presenting lower self-esteem in gifted population, suggesting that self-esteem issues are probably due to the fact that gifted children who present low self-esteem might not consider their high Intellectual Quotient (IQ) as a positive characteristic, thus leading to behavioral or emotional troubles. According to the author's knowledge, there is poor evidence trying to understand self-esteem issues in troubled gifted and non-gifted students in France, also finding an important lack regarding the possible moderators that might influence self-esteem. This study aimed to validate the results of these samples, looking for age and sex moderators in order to present recent evidence for the study of self-esteem in troubled gifted students in France. This study analysed the data gathered in the past 12 years for troubled students attending to the National Centre for Assistance to High Potential of Children and Adolescents (CNAHP) in France comparing the results of gifted versus non-gifted population. Primary results showed no significant differences between the groups in global self-esteem (t=1,15 p < .25), consistent with correlation analysis that found no correlation between global self-esteem and total IQ for each of the groups (rgifted=.04, rnon-gifted=.-08). Nevertheless, an ANOVA analysis showed an important effect of giftedness over academic self-esteem even though no significant differences were found (t=1,8 p < .06). No significant differences between sex regarding global self-esteem in any of the groups were found. Nevertheless, non-gifted population showed a significant difference in physical self-esteem, being higher for boys than for girls (t=2.65 p < .01). Sex and age moderator analyses for self-esteem will be presented and discussed.Keywords: children and adolescents, giftedness, self-esteem, troubled children and adolescents
Procedia PDF Downloads 13712 Protein Feeding Pattern, Casein Feeding, or Milk-Soluble Protein Feeding did not Change the Evolution of Body Composition during a Short-Term Weight Loss Program
Authors: Solange Adechian, Michèle Balage, Didier Remond, Carole Migné, Annie Quignard-Boulangé, Agnès Marset-Baglieri, Sylvie Rousset, Yves Boirie, Claire Gaudichon, Dominique Dardevet, Laurent Mosoni
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Studies have shown that timing of protein intake, leucine content, and speed of digestion significantly affect postprandial protein utilization. Our aim was to determine if one can spare lean body mass during energy restriction by varying the quality and the timing of protein intake. Obese volunteers followed a 6-wk restricted energy diet. Four groups were compared: casein pulse, casein spread, milk-soluble protein (MSP, = whey) pulse, and MSP spread (n = 10-11 per group). In casein groups, caseins were the only protein source; it was MSP in MSP groups. Proteins were distributed in four meals per day in the proportion 8:80:4:8% in the pulse groups; it was 25:25:25:25% in the spread groups. We measured weight, body composition, nitrogen balance, 3-methylhistidine excretion, perception of hunger, plasma parameters, adipose tissue metabolism, and whole body protein metabolism. Volunteers lost 7.5 ± 0.4 kg of weight, 5.1 ± 0.2 kg of fat, and 2.2 ± 0.2 kg of lean mass, with no difference between groups. In adipose tissue, cell size and mRNA expression of various genes were reduced with no difference between groups. Hunger perception was also never different between groups. In the last week, due to a higher inhibition of protein degradation and despite a lower stimulation of protein synthesis, postprandial balance between whole body protein synthesis and degradation was better with caseins than with MSP. It seems likely that the positive effect of caseins on protein balance occurred only at the end of the experiment.Keywords: lean body mass, fat mass, casein, whey, protein metabolism
Procedia PDF Downloads 7211 Supporting International Student’s Acculturation Through Chatbot Technology: A Proposed Study
Authors: Sylvie Studente
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Despite the increase in international students migrating to the UK, the transition from home environment to a host institution abroad can be overwhelming for many students due to acculturative stressors. These stressors are reported to peak within the first six months of transitioning into study abroad which has determinantal impacts for Higher Education Institutions. These impacts include; increased drop-out rates and overall decreases in academic performance. Research suggests that belongingness can negate acculturative stressors through providing opportunities for students to form necessary social connections. In response to this universities have focussed on utilising technology to create learning communities with the most commonly deployed being social media, blogs, and discussion forums. Despite these attempts, the application of technology in supporting international students is still ambiguous. With the reported growing popularity of mobile devices among students and accelerations in learning technology owing to the COVID-19 pandemic, the potential is recognised to address this challenge via the use of chatbot technology. Whilst traditionally, chatbots were deployed as conversational agents in business domains, they have since been applied to the field of education. Within this emerging area of research, a gap exists in addressing the educational value of chatbots over and above the traditional service orientation categorisation. The proposed study seeks to extend upon current understandings by investigating the challenges faced by international students in studying abroad and exploring the potential of chatbots as a solution to assist students’ acculturation. There has been growing interest in the application of chatbot technology to education accelerated by the shift to online learning during the COVID-19 pandemic. Although interest in educational chatbots has surged, there is a lack of consistency in the research area in terms of guidance on the design to support international students in HE. This gap is widened when considering the additional challenge of supporting multicultural international students with diverse. Diversification in education is rising due to increases in migration trends for international study. As global opportunities for education increase, so does the need for multiculturally inclusive learning support.Keywords: chatbots, education, international students, acculturation
Procedia PDF Downloads 4710 Quantitative on Fatty Acid Profiles, Lipid Contents and Fat-Soluble Vitamin A of Freshwater Fish Species in Tonle Sap Lake, Cambodia
Authors: Sengly Sroy, Elodie Arnaud, Adrien Servent, Sokneang In, Sylvie Avallone
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In Cambodia, fish plays an important role for local community in term of food habits, preference and contribution to several nutritional intakes. Consumed on a daily basis, fishes and their derivatives products are good sources of proteins, essential fatty acids and fat-soluble vitamins. They mainly obtain from the Tonle Sap Lake but, during the last decade, the fish population decreased drastically due to climate change and human activities as well. Contamination by agricultural residues and heavy metals were identified. However, fishes are currently used in several nutrition programs for children and pregnant women to improve their nutritional status. The aim of our work was to characterize the nutritional profile and contamination of 10 fish species consumed near the Tonle Sap Lake with a special attention to fatty acid and fat-soluble vitamin profiles. Fish samples were analyzed for their nutritional profiles (AOAC methods for macronutrients and micronutrients), their lipid content (Folch modified method), their Fatty acid (FAME method), their vitamin A (HPLC) and their heavy metals (ICP-MS). The total lipid contents ranged from 1.43 to 10.00% according to fish species. Lipid profile was mainly dominated by saturated fat (from 47.95 to 57.32%) but some fish species were particularly rich in ω-3 and ω-6 especially eicosapentaenoic acid EPA (3.05%) and docosahexaenoic acid DHA (2.82%). The more the fishes were fats, the more they contained vitamin A, DHA and EPA. Vitamin A is particularly abundant in small fishes (250.10 μg RE/100 g) compare to big ones (13.77 μg RE/100 g) because they are consumed as a whole with their organs (liver) and head. However, the contents of heavy metal in some species are higher than the maximum permitted level (MPL) from codex alimentarius, especially Mn. The results obtained provided important information on the most interesting fish in term of human nutrition and the potential risk of contaminants. The fatty acids are important for child development and pregnant women. These data are useful for supply chain stakeholders and the people in charge of nutrition program.Keywords: fat-soluble vitamin, fatty acid, freshwater fish, lipid content, Tonle Sap Lake
Procedia PDF Downloads 1539 Improving Collective Health and Social Care through a Better Consideration of Sex and Gender: Analytical Report by the French National Authority for Health
Authors: Thomas Suarez, Anne-Sophie Grenouilleau, Erwan Autin, Alexandre Biosse-Duplan, Emmanuelle Blondet, Laurence Chazalette, Marie Coniel, Agnes Dessaigne, Sylvie Lascols, Andrea Lasserre, Candice Legris, Pierre Liot, Aline Metais, Karine Petitprez, Christophe Varlet, Christian Saout
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Background: The role of biological sex and gender identity -whether assigned or chosen- as health determinants are far from a recent discovery: several reports have stressed out how being a woman or a man could affect health on various scales. However, taking it into consideration beyond stereotypes and rigid binary assumptions still seems to be a work in progress. Method: The report is a synthesis on a variety of specific topics, each of which was studied by a specialist from the French National Authority for Health (HAS), through an analysis of existing literature on both healthcare policy construction process and instruments (norms, data analysis, clinical trials, guidelines, and professional practices). This work also implied a policy analysis of French recent public health laws and a retrospective study of guidelines with a gender mainstreaming approach. Results: The analysis showed that though sex and gender were well-known determinants of health, their consideration by both public policy and health operators was often incomplete, as it does not incorporate how sex and gender interact, as well as how they interact with other factors. As a result, the health and social care systems and their professionals tend to reproduce some stereotypical and inadequate habits. Though the data available often allows to take sex and gender into consideration, such data is often underused in practice guidelines and policy formulation. Another consequence is a lack of inclusiveness towards transgender or intersex persons. Conclusions: This report first urges for raising awareness of all the actors of health, in its broadest definition, that sex and gender matter beyond first-look conclusions. It makes a series of recommendations in order to reshape policy construction in the health sector on the one hand and to design public health instruments to make them more inclusive regarding sex and gender on the other hand. The HAS finally committed to integrate sex and gender preoccupations in its workings methods, to be a driving force in the spread of these concerns.Keywords: biological sex, determinants of health, gender, healthcare policy instruments, social accompaniment
Procedia PDF Downloads 1308 Ethical Issues in AI: Analyzing the Gap Between Theory and Practice - A Case Study of AI and Robotics Researchers
Authors: Sylvie Michel, Emmanuelle Gagnou, Joanne Hamet
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New major ethical dilemmas are posed by artificial intelligence. This article identifies an existing gap between the ethical questions that AI/robotics researchers grapple with in their research practice and those identified by literature review. The objective is to understand which ethical dilemmas are identified or concern AI researchers in order to compare them with the existing literature. This will enable to conduct training and awareness initiatives for AI researchers, encouraging them to consider these questions during the development of AI. Qualitative analyses were conducted based on direct observation of an AI/Robotics research team focused on collaborative robotics over several months. Subsequently, semi-structured interviews were conducted with 16 members of the team. The entire process took place during the first semester of 2023. The observations were analyzed using an analytical framework, and the interviews were thematically analyzed using Nvivo software. While the literature identifies three primary ethical concerns regarding AI—transparency, bias, and responsibility—the results firstly demonstrate that AI researchers are primarily concerned with the publication and valorization of their work, with the initial ethical concerns revolving around this matter. Questions arise regarding the extent to which to "market" publications and the usefulness of some publications. Research ethics are a central consideration for these teams. Secondly, another result shows that the researchers studied adopt a consequentialist ethics (though not explicitly formulated as such). They ponder the consequences of their development in terms of safety (for humans in relation to Robots/AI), worker autonomy in relation to the robot, and the role of work in society (can robots take over jobs?). Lastly, results indicate that the ethical dilemmas highlighted in the literature (responsibility, transparency, bias) do not explicitly appear in AI/Robotics research. AI/robotics researchers raise specific and pragmatic ethical questions, primarily concerning publications initially and consequentialist considerations afterward. Results demonstrate that these concerns are distant from the existing literature. However, the dilemmas highlighted in the literature also deserve to be explicitly contemplated by researchers. This article proposes that the journals these researchers target should mandate ethical reflection for all presented works. Furthermore, results suggest offering awareness programs in the form of short educational sessions for researchers.Keywords: ethics, artificial intelligence, research, robotics
Procedia PDF Downloads 817 A Paradox in the Issue of Sexual Violence: A Study on Sexual Violence Perpetrated against Men and Boys by Women: A Case Study of the Municipality of Ibanda, Town of Bukavu, Province of South Kivu, Democratic Republic of Congo, Africa
Authors: Sylvie Ekanga Lumumba
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Background and Significance of the Study: Over the past three decades, the perception of sexual violence has changed significantly, it is now recognized that men and boys are victims of sexual violence. However, the body of research on male victims and particularly on their attackers is much more limited. Research on the above is thus more than required. To contribute to the above quest for further studies, the researcher conducted this study on sexual violence perpetrated against men and boys by women, in the Municipality of Ibanda, Town of Bukavu, Province of South Kivu, Democratic Republic of Congo. The main study objectives were the following: to investigate on the statement of sexual violence perpetrated against men and boys in the Municipality of Ibanda, to investigate into its consequences and the statement of medical and psycho-social care given to victims. Methodology: Data were collected using valid and reliable Survey Questionnaire and Interview Schedule. Study population: the 85,882 men and boys from the Municipality of Ibanda. Sampling: led to 150 men and boys, received discreetly by the researcher during November-December 2015. Major findings: First, findings related to sexual abuse and its procedure: 74.2% of men and boys were victims of sexual violence perpetrated by a woman, more than a year ago. 13.3% however, were victims for less than a year now. 79.7% of victims have experienced sexual violence by a sexual act; 3.9% through the intention of the woman to cause the death of the victim, by serious injury to the genitals. The Second group of findings related to the consequences of sexual violence revealed that HIV/AIDS is the most important physical consequence experienced by 77.3 % of victims. Physical psychological consequences are: urinary or defecation problems (72.7%); while key psycho-emotional and behavioral consequence is: living a state of deep shame and humiliation: 68.8%. As for sexual consequences: 71.1% indicated a chronic avoidance of sexual activity and 57% reported sexual dysfunctions. The third group of findings is related to medical and psycho-social care: repetitively, more than 80% of male victims affirmed that with the help of friends and traditional healers, they took care of themselves for all the eight WHO phases of clinical care of rape victims, this was hence not effectively done. Concluding Statement: for this study, the statement of sexual violence of men and boys by women in the Eastern Congo and its consequences are not researched upon and are underestimated; the study also revealed that the care of male victims is grossly ill-conducted, as opposed to female victims care. It therefore calls for further research and further vulgarization of the research results, to convince other stakeholders (politicians for example) to immediately take action.Keywords: sexual violence, men and boys, medical care, psycho-social care
Procedia PDF Downloads 2196 Single-Parent Families and Its Impact on the Psycho Child Development in Schools
Authors: Sylvie Sossou, Grégoire Gansou, Ildevert Egue
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Introduction: The mission of the family and the school is to educate and train citizens of the city. But the family’s values , parental roles, respect for life collapse in their traditional African form. Indeed laxity with regard to divorce, liberal ideas about child rearing influence the emotional life of the latter. Several causes may contribute to the decline in academic performance. In order to seek a psychological solution to the issue, a study was conducted in 6 schools at the 9th district in Cotonou, cosmopolitan city of Benin. Objective: To evaluate the impact of single parenthood on the psycho child development. Materials and Methods: Questionnaires and interviews were used to gather verbal information. The questionnaires were administered to parents and children (schoolchildren 4, 5 and six form) from 7 to 12 years in lone parenthood. The interview was done with teachers and school leaders. We identified 209 cases of children living with a "single-parent" and 68 single parents. Results: Of the 209 children surveyed the results showed that 116 children are cut relational triangle in early childhood (before 3 years). The psychological effects showed that the separation has caused sadness for 52 children, anger 22, shame 17, crying at 31 children, fear for 14, the silence at 58 children. In front of complete family’s children, these children experience feelings of aggression in 11.48%; sadness in 30.64%; 5.26% the shame, the 6.69% tears; jealousy in 2.39% and 2.87% of indifference. The option to get married in 44.15% of children is a challenge to want to give a happy childhood for their offspring; 22.01% feel rejected, there is uncertainty for 11.48% of cases and 25.36% didn’t give answer. 49, 76% of children want to see their family together; 7.65% are against to avoid disputes and in many cases to save the mother of the father's physical abuse. 27.75% of the ex-partners decline responsibility in the care of the child. Furthermore family difficulties affecting the intellectual capacities of children: 37.32% of children see school difficulties related to family problems despite all the pressure single-parent to see his child succeed. Single parenthood affects inter-family relations: pressure 33.97%; nervousness 24.88%; overprotection 29.18%; backbiting 11.96%, are the lives of these families. Conclusion: At the end of the investigation, results showed that there is a causal relationship between psychological disorders, academic difficulties of children and quality of parental relationships. Other cases may exist, but the lack of resources meant that we have only limited at 6 schools. Early psychological treatment for these children is needed.Keywords: single-parent, psycho child, school, Cotonou
Procedia PDF Downloads 3915 Ethical Decision-Making in AI and Robotics Research: A Proposed Model
Authors: Sylvie Michel, Emmanuelle Gagnou, Joanne Hamet
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Researchers in the fields of AI and Robotics frequently encounter ethical dilemmas throughout their research endeavors. Various ethical challenges have been pinpointed in the existing literature, including biases and discriminatory outcomes, diffusion of responsibility, and a deficit in transparency within AI operations. This research aims to pinpoint these ethical quandaries faced by researchers and shed light on the mechanisms behind ethical decision-making in the research process. By synthesizing insights from existing literature and acknowledging prevalent shortcomings, such as overlooking the heterogeneous nature of decision-making, non-accumulative results, and a lack of consensus on numerous factors due to limited empirical research, the objective is to conceptualize and validate a model. This model will incorporate influences from individual perspectives and situational contexts, considering potential moderating factors in the ethical decision-making process. Qualitative analyses were conducted based on direct observation of an AI/Robotics research team focusing on collaborative robotics for several months. Subsequently, semi-structured interviews with 16 team members were conducted. The entire process took place during the first semester of 2023. Observations were analyzed using an analysis grid, and the interviews underwent thematic analysis using Nvivo software. An initial finding involves identifying the ethical challenges that AI/robotics researchers confront, underlining a disparity between practical applications and theoretical considerations regarding ethical dilemmas in the realm of AI. Notably, researchers in AI prioritize the publication and recognition of their work, sparking the genesis of these ethical inquiries. Furthermore, this article illustrated that researchers tend to embrace a consequentialist ethical framework concerning safety (for humans engaging with robots/AI), worker autonomy in relation to robots, and the societal implications of labor (can robots displace jobs?). A second significant contribution entails proposing a model for ethical decision-making within the AI/Robotics research sphere. The model proposed adopts a process-oriented approach, delineating various research stages (topic proposal, hypothesis formulation, experimentation, conclusion, and valorization). Across these stages and the ethical queries, they entail, a comprehensive four-point comprehension of ethical decision-making is presented: recognition of the moral quandary; moral judgment, signifying the decision-maker's aptitude to discern the morally righteous course of action; moral intention, reflecting the ability to prioritize moral values above others; and moral behavior, denoting the application of moral intention to the situation. Variables such as political inclinations ((anti)-capitalism, environmentalism, veganism) seem to wield significant influence. Moreover, age emerges as a noteworthy moderating factor. AI and robotics researchers are continually confronted with ethical dilemmas during their research endeavors, necessitating thoughtful decision-making. The contribution involves introducing a contextually tailored model, derived from meticulous observations and insightful interviews, enabling the identification of factors that shape ethical decision-making at different stages of the research process.Keywords: ethical decision making, artificial intelligence, robotics, research
Procedia PDF Downloads 794 Familial Exome Sequencing to Decipher the Complex Genetic Basis of Holoprosencephaly
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
Procedia PDF Downloads 204