IRF4 expression is low in Philadelphia negative myeloproliferative neoplasms and is associated with a worse prognosis

Interferon regulatory factor 4 (IRF4) is involved in the pathogenesis of various hematologic malignancies. Its expression has been related to the negative regulation of myeloid-derived suppressor cells (MDSCs) and the polarization of anti-inflammatory M2 macrophages, thereby altering immunosurveillance and inflammatory mechanisms. An abnormal inflammatory status in the bone marrow microenvironment of myeloproliferative neoplasms (MPNs) has recently been demonstrated; moreover, in chronic myeloid leukemia a downregulated expression of IRF4 has been found. In this context, we evaluated the IRF4 expression in 119 newly diagnosed consecutive Philadelphia negative MPNs (Ph- MPNs), showing a low expression among the MPNs phenotypes with a more significant decrease in primary myelofibrosis patients. Lower IRF4 levels were associated with JAK2 + and triple negatives cases carrying the worst prognosis. Furthermore, the IRF4 levels were related to leukemic transformation and a shorter leukemia-free survival; moreover, the risk of myelofibrosis transformation in polycythemia vera and essential thrombocythemia patients was more frequent in cases with lower IRF4 levels. Overall, our study demonstrates an IRF4 dysregulated expression in MPNs patients and its association with a worse prognosis. Further studies could validate these data, to improve our knowledge of the MPNs pathogenesis and confirm the IRF4 role as a new prognostic factor

RUNX1 gene alterations characterized by allelic preference in adult acute myeloid leukemia

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Nanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia

The evaluation of the somatic hypermutation of the clonotypic immunoglobulin heavy variable gene has become essential in the therapeutic management in chronic lymphocytic leukemia patients. European Research Initiative on Chronic Lymphocytic Leukemia promotes good practices and standardized approaches to this assay but often they are labor-intensive, technically complex, with limited in scalability. The use of next-generation sequencing in this analysis has been widely tested, showing comparable accuracy and distinct advantages. However, the adoption of the next generation sequencing requires a high sample number (run batching) to be economically convenient, which could lead to a longer turnaround time. Here we present data from nanopore sequencing for the somatic hypermutation evaluation compared to the standard method. Our results show that nanopore sequencing is suitable for immunoglobulin heavy variable gene mutational analysis in terms of sensitivity, accuracy, simplicity of analysis and is less time-consuming. Moreover, our work showed that the development of an appropriate data analysis pipeline could lower the nanopore sequencing error rate attitude

DOMINUSplus – An Intelligent Framework for Document Management

Store, process and manage collections of different types of documents is one of the needs of most organizations, especially universities. The management of libraries, scientific conferences, research projects are just some of the practical cases that require advanced solutions. DOMINUSplus is an open project born with the aim of harmonizing the Artificial Intelligence approaches developed at the LACAM laboratory with the research on Digital Libraries in a general software backbone for document processing and management, extensible with ad-hoc solutions for specific problems and context (such as universities)

Optimizing RDF Storage Removing Redundancies: An Algorithm

Semantic Web relies on Resource Description Framework (RDF). Because of the very simple RDF Model and Syntax, the managing of RDF-based knowledge bases requires to take into account both scalability and storage space consumption. In particular, blank nodes semantics came up recently with very interesting theoretical results that can lead to various techniques that optimize, among others, space requirements in storing RDF descriptions. We present a prototypical evolution of our system called RDFCore that exploits these theoretical results and reduces the storage space for RDF descriptions

Achieving scalability and expressivity in an RDF knowledge base by implementing contexts

In this paper we are presenting the context architecture implemented on top of the RDFCore system. With this extended Knowledge Representation framework we are trying to overcome some of the limitations of RDF and OWL as they are today, without losing sight of performance and scalability issues. We are illustrating motivations - partly based on requirements in the VIKEF project - as well as theoretical background, implementation details and test-results of our latest works

Towards an Inductive Methodology for Ontology Alignment Through Instance Negotiation

The Semantic Web needs methodologies to accomplish actual commitment on shared ontologies among different actors in play. In this paper, we propose a machine learning approach to solve this issue relying on classified instance exchange and inductive reasoning. This approach is based on the idea that, whenever two (or more) software entities need to align their ontologies (which amounts, from the point of view of each entity, to add one or more new concept definitions to its own ontology), it is possible to learn the new concept definitions starting from shared individuals (i.e. individuals already described in terms of both ontologies, for which the entities have statements about classes and related properties); these individuals, arranged in two sets of positive and negative examples for the target definition, are used to solve a learning problem which as solution gives the definition of the target concept in terms of the ontology used for the learning process. The method has been applied in a preliminary prototype for a small multi-agent scenario (where the two entities cited before are instantiated as two software agents). Following the prototype presentation, we report on the experimental results we obtained and then draw some conclusions