ORBilu http://orbilu.uni.lu The ORBi institutional repository system captures, stores, indexes, preserves, and distributes digital research material. ORBi<sup>lu</sup> search engine Search this channel search http://orbilu.uni.lu/simple-search Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies http://hdl.handle.net/10993/36988 Title: Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies <br/> <br/>Author, co-author: Niestroj, Lisa-Marie; Du, Juanjiangmeng; Nothnagel, Michael; May, Patrick; Palotie, Aarno; Daly, Mark J.; Nürnberg, Peter; Blümcke, Ingmar; Lal, Dennis <br/> <br/>Abstract: Objective: Increasing availability of surgically resected brain tissue from patients with focal epilepsy and Focal Cortical Dysplasia (FCD) or low-grade glio-neuronal tumors has fostered large-scale genetic examination. However, assessment of pathogenicity of germline and somatic variants remains difficult. Here, we present a state of the art evaluation of reported genes and variants associated with epileptic brain lesions. Methods: We critically re-evaluated the pathogenicity for all neuropathology-associated variants reported to date in PubMed and ClinVar databases including 101 neuropathology-associated missense variants encompassing 11 disease-related genes. We assessed gene variant tolerance and classified all identified missense variants according to guidelines from the American College of Medical Genetics and Genomics (ACMG). We further extended the bioinformatic variant prediction by introducing a novel gene-specific deleteriousness ranking for prediction scores. Results: Application of ACMG guidelines and in silico gene variant tolerance analysis classified only seven out of 11 genes to be likely disease-associated according to the reported a disease mechanism, while 61 (60.4%) of 101 variants of those genes were classified as of uncertain significance (VUS), 37 (36.6%) as being likely pathogenic (LP) and 3 (3%) as being pathogenic (P). Significance: We concluded that the majority of neuropathology-associated variants reported to date do not have enough evidence to be classified as pathogenic. Interpretation of lesion-associated variants remains challenging and application of current ACMG guidelines is recommended for interpretation and prediction. Oracles for Testing Software Timeliness with Uncertainty http://hdl.handle.net/10993/36987 Title: Oracles for Testing Software Timeliness with Uncertainty <br/> <br/>Author, co-author: Wang, Chunhui; Pastore, Fabrizio; Briand, Lionel <br/> <br/>Abstract: Uncertainty in timing properties (e.g., detection time of external events) is a common occurrence in embedded software systems since these systems interact with complex physical environments. Such time uncertainty leads to non-determinism. For example, time-triggered operations may either generate different valid outputs across different executions, or experience failures (e.g., results not being generated in the expected time window) that occur only occasionally over many executions. For these reasons, time uncertainty makes the generation of effective test oracles for timing requirements a challenging task. To address the above challenge, we propose STUIOS (Stochastic Testing with Unique Input Output Sequences), an approach for the automated generation of stochastic oracles that verify the capability of a software system to fulfill timing constraints in the presence of time uncertainty. Such stochastic oracles entail the statistical analysis of repeated test case executions based on test output probabilities predicted by means of statistical model checking. Results from two industrial case studies in the automotive domain demonstrate that this approach improves the fault detection effectiveness of tests suites derived from timed automata, compared to traditional approaches. Kulturgeschicht Lëtzebuerg: Lëtzebuerger Identitéit ass méi wéi just Sprooch http://hdl.handle.net/10993/36986 Title: Kulturgeschicht Lëtzebuerg: Lëtzebuerger Identitéit ass méi wéi just Sprooch <br/> <br/>Author, co-author: Glesener, Jeanne; Pauly, Michel <br/> <br/>Abstract: Also published on http://www.tageblatt.lu/meinung/forum/kulturgeschicht-letzebuerg-letzebuerger-identiteit-ass-mei-wei-just-sprooch/ Manifesto for a European research network into Problematic Usage of the Internet http://hdl.handle.net/10993/36985 Title: Manifesto for a European research network into Problematic Usage of the Internet <br/> <br/>Author, co-author: Fineberg, Naomi A.; Demetrovics, Zsolt; Stein, Dan J.; Loannidis, Konstantinos; Potenza, Marc N.; Grünblatt, Edna; Brand, Matthias; Billieux, Joël; Carmi, Lior; King, Daniel Luke; Grant, Jon E.; Yücel, Murat; Dell'Osso, Bernardo; Rumpf, Hans-Jürgen; Hall, Natalie; Hollander, Eric; Goudriaan, Anna; Menchon, Jose M; Zohar, Joseph; Burkauskas, Julius; Martinotti, Giovanni; Van Ameringen, Michael; Corazza, Ornella; Pallanti, Stefano; COST ACTION NETWORK; Chamberlain, Samuel Robin <br/> <br/>Abstract: The Internet is now all-pervasive across much of the globe. While it has positive uses (e.g. prompt access to information, rapid news dissemination), many individuals develop Problematic Use of the Internet (PUI), an umbrella term incorporating a range of repetitive impairing behaviours. The Internet can act as a conduit for, and may contribute to, functionally impairing behaviours including excessive and compulsive video gaming, compulsive sexual behaviour, buying, gambling, streaming or social networks use. There is growing public and National health authority concern about the health and societal costs of PUI across the lifespan. Gaming Disorder is being considered for inclusion as a mental disorder in diagnostic classification systems, and was listed in the ICD-11 version released for consideration by Member States ( http://www.who.int/classifications/icd/revision/timeline/en/ ). More research is needed into disorder definitions, validation of clinical tools, prevalence, clinical parameters, brain-based biology, socio-health-economic impact, and empirically validated intervention and policy ap- proaches. Potential cultural differences in the magnitudes and natures of types and patterns of PUI need to be better understood, to inform optimal health policy and service development. To this end, the EU under Horizon 2020 has launched a new four-year European Cooperation in Science and Technology (COST) Action Programme (CA 16207), bringing together scientists and clinicians from across the fields of impulsive, compulsive, and addictive disorders, to advance networked interdisciplinary research into PUI across Europe and beyond, ultimately seeking to inform regulatory policies and clinical practice. This paper describes nine critical and achievable research priorities identified by the Network, needed in order to advance understanding of PUI, with a view towards identifying vulnerable individuals for early intervention. The network shall enable collaborative research networks, shared multinational databases, multicentre studies and joint publications . Wat droen d’Schoulen zur Leeschtung vu Schülerinnen a Schüler bäi? E systemateschen Iwwerbléck iwwer déi aktuell Fuerschungslag an Uwennung u lëtzebuergesche Längsschnëtt-Donnéeën http://hdl.handle.net/10993/36984 Title: Wat droen d’Schoulen zur Leeschtung vu Schülerinnen a Schüler bäi? E systemateschen Iwwerbléck iwwer déi aktuell Fuerschungslag an Uwennung u lëtzebuergesche Längsschnëtt-Donnéeën <br/> <br/>Author, co-author: Levy, Jessica; Brunner, Martin; Keller, Ulrich; Fischbach, Antoine Die Sprache der Karten - Kartensprachen http://hdl.handle.net/10993/36983 Title: Die Sprache der Karten - Kartensprachen <br/> <br/>Author, co-author: Uhrmacher, Martin Bilan http://hdl.handle.net/10993/36982 Title: Bilan <br/> <br/>Author, co-author: Lejot, Eve L'université, entre connaissance et intérêt. http://hdl.handle.net/10993/36981 Title: L'université, entre connaissance et intérêt. <br/> <br/>Author, co-author: Vomacka, Eloïse Ein Atlas der Stadtgeschichte Luxemburgs - digital und interaktiv. Ein Werkstattbericht http://hdl.handle.net/10993/36980 Title: Ein Atlas der Stadtgeschichte Luxemburgs - digital und interaktiv. Ein Werkstattbericht <br/> <br/>Author, co-author: Uhrmacher, Martin; Kass, Steve <br/> <br/>Abstract: Seit 2016 widmet sich ein Forschungsprojekt der Universität, in Zusammenarbeit mit der Stadt Luxemburg, der Erstellung eines historischen Atlas. Dieser wird die städtische Entwicklung seit Beginn des 19. Jahrhunderts in Form von digitalen und interaktiven Karten im Internet darstellen. Fünf Zeitschnitte sind vorgesehen, um die tiefgreifenden Wandlungsprozesse Luxemburgs zu analysieren und zugleich auch spannend und anschaulich zu präsentieren: Von der Festungsstadt, die das militärische Korsett erst nach 1867 ablegen konnte, über eine moderne europäischen Hauptstadt des frühen 20. Jahrhunderts bis hin zu einem der Hauptverwaltungssitze der EU und einem internationalen Finanzzentrum. Ein Jahr vor der offiziellen Veröffentlichung des Atlas werden erste Ergebnisse präsentiert. Dies ermöglicht einen Einblick in die historische Forschungsarbeit sowie in die digitale Aufbereitung alter Karten für die Publikation im Internet. no title http://hdl.handle.net/10993/36979 Phosphoprotein patterns predict trametinib responsiveness and optimal trametinib sensitisation strategies in melanoma. http://hdl.handle.net/10993/36978 Title: Phosphoprotein patterns predict trametinib responsiveness and optimal trametinib sensitisation strategies in melanoma. <br/> <br/>Author, co-author: Rozanc, Jan; Sakellaropoulos, Theodore; Antoranz, Asier; Gutta, Cristiano; Podder, Biswajit; Vetma, Vesna; Rufo, Nicole; Agostinis, Patrizia; Pliaka, Vaia; Sauter, Thomas; Kulms, Dagmar; Rehm, Markus; Alexopoulos, Leonidas G. <br/> <br/>Abstract: Malignant melanoma is a highly aggressive form of skin cancer responsible for the majority of skin cancer-related deaths. Recent insight into the heterogeneous nature of melanoma suggests more personalised treatments may be necessary to overcome drug resistance and improve patient care. To this end, reliable molecular signatures that can accurately predict treatment responsiveness need to be identified. In this study, we applied multiplex phosphoproteomic profiling across a panel of 24 melanoma cell lines with different disease-relevant mutations, to predict responsiveness to MEK inhibitor trametinib. Supported by multivariate statistical analysis and multidimensional pattern recognition algorithms, the responsiveness of individual cell lines to trametinib could be predicted with high accuracy (83% correct predictions), independent of mutation status. We also successfully employed this approach to case specifically predict whether individual melanoma cell lines could be sensitised to trametinib. Our predictions identified that combining MEK inhibition with selective targeting of c-JUN and/or FAK, using siRNA-based depletion or pharmacological inhibitors, sensitised resistant cell lines and significantly enhanced treatment efficacy. Our study indicates that multiplex proteomic analyses coupled with pattern recognition approaches could assist in personalising trametinib-based treatment decisions in the future. Comparison of metadata quality in open data portals using the Analytic Hierarchy Process http://hdl.handle.net/10993/36977 Title: Comparison of metadata quality in open data portals using the Analytic Hierarchy Process <br/> <br/>Author, co-author: Kubler, sylvain; Robert, Jérémy; Neumaier, Sebastian; Umbrich, Jürgen; Le Traon, Yves Measuring inconsistency and deriving priorities from fuzzy pairwise comparison matrices using the knowledge-based consistency index http://hdl.handle.net/10993/36976 Title: Measuring inconsistency and deriving priorities from fuzzy pairwise comparison matrices using the knowledge-based consistency index <br/> <br/>Author, co-author: Kubler, Sylvain; Derigent, William; Voisin, Alexandre; Robert, Jérémy; Le Traon, Yves; Herrera Viedma, Enrique The long and winding road to inclusion in Higher Education http://hdl.handle.net/10993/36975 Title: The long and winding road to inclusion in Higher Education <br/> <br/>Author, co-author: Limbach-Reich, Arthur Bildungswerte und Schulentfremdung: Institutions- und Kompositionseffekte in den Bildungskontexten Luxemburgs und der Schweiz http://hdl.handle.net/10993/36974 Title: Bildungswerte und Schulentfremdung: Institutions- und Kompositionseffekte in den Bildungskontexten Luxemburgs und der Schweiz <br/> <br/>Author, co-author: Scharf, Jan <br/> <br/>Abstract: Values and attitudes towards schooling – as the core concepts of this research – are increasingly recognized as important factors affecting educational achievement and attainment. Values of Education (VoE) are conceptualised along the five instrumental goals outlined in the social production function theory by Lindenberg (1991; Ormel et al., 1999). School alienation (SAL) is defined as negative attitudes towards academic domains of schooling, namely teachers and learning (Hascher & Hadjar, 2018: 179). Based on the assumption that SAL depicts a process intensified over the course of secondary education (Finn, 1989), this dissertation finds evidence for developmental trends between grade seven and grade eight comparatively across country settings and to show how educational contexts and the perceived VoE affect SAL. This sociological study provides an in-depth comparison of the stratified school systems of Luxembourg and of the Canton of Berne (Switzerland) based upon newly-collected panel data of the international research project School Alienation in Switzerland and Luxembourg (SASAL) (N = 465/508). Following the distinction of primary and secondary effects of social origin by Boudon (1974), these core concepts are discussed in the frames of Bourdieu’s (1982 [1979], 1992) habitus theory, emphasizing the transmission of cultural capital in families, and of rational choice approaches (e.g. Esser, 1999). Moreover, theoretical approaches on disparities structured by gender (e.g. Breen et al., 2010) and migration background (Kristen & Dollmann, 2010) as well as further axes of educational inequalities are considered to explain found differences in students’ educational values and attitudes towards schooling. The validation of the measurement instrument of VoE by means of factor analysis indicates four dimensions of VoE among school students in these contexts: stimulation as an intrinsic value, comfort and status related to standards of living and future career goals, behavioural confirmation in terms of expectations of significant others, and the social goal affection. Structural equation models demonstrate that the lower value of stimulation through education among boys mediates their higher level of SAL across country contexts. Yet, a higher value of comfort/status among students increases the development of negative attitudes. Whereas immigrant students’ higher behavioural confirmation in the Canton of Bern backs the immigrant optimism thesis (Kao & Tienda, 1995), immigrant students in Luxembourg reveal a general lower VoE and are more alienated from teachers. Contextual effects estimated in multilevel models explain the higher prevalence of alienation from learning in Luxembourgish classrooms. Within the stratified and segregated secondary schooling, students in the academic track are more alienated compared to students in technical secondary education. This result contradicts the differentiation–polarization theory (Van Houtte, 2006) in the context of Luxembourg. On the other hand, in Berne, alienation from learning does not differ between school tracks, but is overall lower in the less segregated, more permeable schools. Classroom composition effects, however, show no clear pattern. In line with prior research, alienation from learning is lower in Luxembourgish classrooms with a higher percentage of immigrant students. With regard to the consequences of SAL, the results show a negative impact of alienation from learning on school achievement in both country settings. Deriving implications, the findings provide some arguments in favour of comprehensive school models. Sustainability: problematizing fragility and ephemerality in digital research - Workshop http://hdl.handle.net/10993/36973 Title: Sustainability: problematizing fragility and ephemerality in digital research - Workshop <br/> <br/>Author, co-author: Schafer, Valerie; Fickers, Andreas <br/> <br/>Abstract: 404 not found, closed and opaque corpora, websites disappearance after a few years, obsolete tools, problems of maintenance … this workshop wishes to explore the instability of data, of their digital (digitalized or/and born-digital) heritage, of digital technologies and tools, the numerous transformations of devices, platforms, terms of use and the tensions between this instability and the necessary stability and reproducibility of research. How should researchers deal at the same time with the ephemeral, the flow, the obsolescence and the concern of knowledge production? How is it possible to reconciliate the temporality of research and the short cycles of technologies? This workshop aims at introducing and identifying the challenges of sustainability and durability which are too often underestimated in digital research and rarely presented to students when introducing tools and research methods. This 120 minutes workshop will be organized in three parts as follows: - Identifying the levels, steps, in which sustainability and durability of a digital research are challenged, from the shaping and sharing of corpora to the maintenance of research results and digital productions. This will be based on the participants experiences and on several examples of research projects; - Mapping the issues and existing solutions such as digital research infrastructures, permanent identifiers, licenses, but also obstacles and limits (such as author rights …) that researchers have to face or take into account; - Creating practical guidelines that could be used by scholars and students. This workshop expands a research project conducted by Christine Barats (Céditec, Université Paris- Est Créteil), Andreas Fickers (Head of C2DH, University of Luxembourg), Valérie Schafer (C2DH, University of Luxembourg). How Much Evidence Is in Evidence-Based Policymaking: A Case Study of an Expert Group of the European Commission http://hdl.handle.net/10993/36972 Title: How Much Evidence Is in Evidence-Based Policymaking: A Case Study of an Expert Group of the European Commission <br/> <br/>Author, co-author: Decieux, Jean Philippe Pierre <br/> <br/>Abstract: Knowledge co-production is a solution-oriented approach to analysing real-life problems such as making the right decision in a given scenario. The most popular examples come from evidence-based policymaking contexts. Political decisions made in this way rely on specialist expertise co-produced in organisations that can be characterised as Hybrid Fora. However, despite the rise in popularity of Hybrid Fora and evidence-based policymaking processes, there are only a few studies that analyse the influencing factors of knowledge co-production in these contexts. The case study presented here addresses this new area of research through a documentary analysis and 11 expert interviews, both analysed via qualitative content analysis. First, the study reconstructs how knowledge is produced within an Expert Group of the European Commission. Second, it reflects how the produced knowledge is de facto included as “evidence” into the decision-making processes of the relevant policy area. The results of this study show that in this expert group, pragmatic and extra-scientific criteria such as specific stakes and interests as well as the group hierarchy controlled the process of knowledge co-production. Moreover, it also seems that knowledge produced by the interaction of experts within the examined Expert Group has a more symbolic, policy-orientated function, rather than being specifically used as decision-making evidence. SoLeMiO: Semantic Integration of Learning Material in Office http://hdl.handle.net/10993/36971 Title: SoLeMiO: Semantic Integration of Learning Material in Office <br/> <br/>Author, co-author: Grevisse, Christian; Manrique, Rubén; Mariño, Olga; Rothkugel, Steffen <br/> <br/>Abstract: Learners throughout different educational levels and study domains use a significant amount of time to consult learning material. In addition to the resources given by their teachers, further information might be required by the learner. However, leaving the study context to search for related material may lead to distraction or even abandonment of the learning task. Furthermore, traditional learning resources do not foster active learning. In this paper, we present SoLeMiO, a plugin for Office applications, which identifies key concepts in a document and thereby integrates related, heterogeneous resources from an open corpus. We employ concept recognition tools to determine concepts from different domains. Thereupon, resources from different repositories are suggested to the learner and can be consulted from within the current document. Aside from traditional learning resources, active learning is fostered through gamification activities. We showcase the applicability of our approach in multiple disciplines with concrete examples. Commodity taxation and regulatory competition http://hdl.handle.net/10993/36970 Title: Commodity taxation and regulatory competition <br/> <br/>Author, co-author: Zanaj, Skerdilajda; Picard, Pierre M <br/> <br/>Abstract: The purpose of this paper is twofold. We first investigate whether product market regulations affect commodity taxation in open-to-trade economies and second we study the strategic interac- tion in regulatory measures between trading partner countries. We present a two-country general equilibrium model in which destination-based commodity taxes fi nance public goods, and product market regulation affects both the number of fi rms in the market and product diversity. Based on data for 21 OECD countries over the 1990-2008 period, we provide empirical evidence suggesting that product market regulations are strategic complement policies and that domestic regulations have a negative impact on domestic commodity taxation. Transatlantic Iron Corpornations: The Expansion of Luxembourg's Steel Industry to Brazil and the Emergence of Industry-Related Social Welfare in Minas Gerais, ca. 1910-1965 http://hdl.handle.net/10993/36969 Title: Transatlantic Iron Corpornations: The Expansion of Luxembourg's Steel Industry to Brazil and the Emergence of Industry-Related Social Welfare in Minas Gerais, ca. 1910-1965 <br/> <br/>Author, co-author: Hadzalic, Irma
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