90 research outputs found

    Preface and keynote’s talk of the Workshop on Social Interaction-based Recommendation (SIR 2018)

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    This paper summarises all the topics discussed by the invited talk Prof. Gabriella Pasi, during the first edition of the SIR: Workshop on Social Interaction-based Recommendation-The hosted by the 27th International Conference on Information and Knowledge Management (CIKM 2018) - October 22 2018, Turin (Italy)

    Dual Inhibition of Mycobacterial Fatty Acid Biosynthesis and Degradation by 2-Alkynoic Acids

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    Summary2-Hexadecynoic acid and 2-octadecynoic acid have cidal activity against Mycobacterium smegmatis and Mycobacterium bovis BCG. At subinhibitory concentrations, M. smegmatis rapidly transformed [1-14C]-2-hexadecynoic acid into endogenous fatty acids and elongated them into mycolic acids. Toxic concentrations of 2-hexadecynoic acid resulted in accumulation of 3-ketohexadecanoic acid, which blocked fatty acid biosynthesis, and 3-hexadecynoic acid, an inhibitor of fatty acid degradation. The combination of these two metabolites is necessary to achieve the inhibition of M. smegmatis. We conclude that 2- and 3-hexa/octadecynoic acids inhibit mycolic acid biosynthesis, fatty acid biosynthesis, and fatty acid degradation, pathways of significant importance for mycobacteria

    Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance

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    Highly penetrant variants of BRCA1/2 genes are involved in hereditary predisposition to breast and ovarian cancer. The detection of pathogenic BRCA variants has a considerable clinical impact, allowing appropriate cancer-risk management. However, a major drawback is represented by the identification of variants of uncertain significance (VUS). Many VUS potentially affect mRNA splicing, making transcript analysis an essential step for the definition of their pathogenicity. Here, we characterize the impact on splicing of ten BRCA1/2 variants. Aberrant splicing patterns were demonstrated for eight variants whose alternative transcripts were fully characterized. Different events were observed, including exon skipping, intron retention, and usage of de novo and cryptic splice sites. Transcripts with premature stop codons or in-frame loss of functionally important residues were generated. Partial/complete splicing effect and quantitative contribution of different isoforms were assessed, leading to variant classification according to Evidence-based Network for the Interpretation of Mutant Alleles (ENIGMA) consortium guidelines. Two variants could be classified as pathogenic and two as likely benign, while due to a partial splicing effect, six variants remained of uncertain significance. The association with an undefined tumor risk justifies caution in recommending aggressive risk-reduction treatments, but prevents the possibility of receiving personalized therapies with potential beneficial effect. This indicates the need for applying additional approaches for the analysis of variants resistant to classification by gene transcript analyses

    Linked Data Supported Content Analysis for Sociology

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    Philology and hermeneutics as the analysis and interpretation of natural language text in written historical sources are the predecessors of modern content analysis and date back already to antiquity. In empirical social sciences, especially in sociology, content analysis provides valuable insights to social structures and cultural norms of the present and past. With the ever growing amount of text on the web to analyze, also numerous computer-assisted text analysis techniques and tools were developed in sociological research. However, existing methods often go without sufficient standardization. As a consequence, sociological text analysis is lacking transparency, reproducibility and data re-usability. The goal of this paper is to show, how Linked Data principles and Entity Linking techniques can be used to structure, publish and analyze natural language text for sociological research to tackle these shortcomings. This is achieved on the use case of constitutional text documents of the Netherlands from 1884 to 2016 which represent an important contribution to the European cultural heritage. Finally, the generated data is made available and re-usable as Linked Data not only for sociologists, but also for all other researchers in the digital humanities domain interested in the development of constitutions in the Netherlands

    The health determinants in young children: Testing a new surveillance system in Italy

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    In recent years, the scientific community has stressed the need to invest in the first 1,000 days of life - the time spanning between conception and the 2nd birthday - because it is during this period that the foundations of health are laid and whose effects will be present throughout the life and may influence the next generation. Taking this into account, in 2013 the National Centre for Disease Prevention and Control (CCM) of the Italian Ministry of Health promoted and financed a project to test a surveillance system of the main determinants of health concerning the child between the conception period and the 2nd years of life which are included in the National Programme “GenitoriPiù”: folic acid before and during pregnancy, abstention from tobacco and alcohol during pregnancy and lactation, breastfeeding, infant sleep position, vaccination attitude, and early reading. The Project, started in January 2014 and ended in August 2016, has piloted the design, testing, and evaluation of the surveillance system with the view to national extension and the repeatability over time. The surveillance system has been designed to collect data through a questionnaire compiled by mothers in vaccination centres, in order to produce indicators which will enable territorial and intertempo-ral comparisons to be made. The project has shown the feasibility of this system, identifying favourable conditions and possible difficulties, and its ability to collect important information on children's health

    Leveraging linked entities to estimate focus time of short texts

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    Time is a useful dimension to explore in text databases especially when historical and factual information is concerned. As documents generally refer to different events and time periods, understanding the focus time of key sentences, defined as the time the content refers to, is a crucial task to temporally annotate a document. In this paper, we leverage a bag of linked entities representation of sentences and temporal information from Wikipedia and DBpedia to implement a novel approach to focus time estimation. We evaluate our approach on sample datasets and compare it with a state of the art method, measuring improvements in MRR

    Toward textual encoding based on RDF

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    In this paper we investigate the use of Semantic Web languages such as RDF and OWL in textual encoding and we discuss several advantages these tools could provide. Among these, we show how the overlapping markup encoding problem can be naturally solved as the graph structure of the RDF language is naturally suited for this purpose. Further advantages in using Semantic Web based technologies lie in the powerful query and reasoning facilities that are already available and successfully used in the Semantic Web. The distributed and resource centric nature of RDF also enables a novel cooperative annotation scenario, where different encoding "facets" of the same text can be naturally merged. We then suggest the basic structure for an encoding ontology and evaluate the simplicity by which a complex query can be solved either programmatically or using existing Semantic Web query languages
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