527 research outputs found

    Wavelet Features for Recognition of First Episode of Schizophrenia from MRI Brain Images

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    Machine learning methods are increasingly used in various fields of medicine, contributing to early diagnosis and better quality of care. These outputs are particularly desirable in case of neuropsychiatric disorders, such as schizophrenia, due to the inherent potential for creating a new gold standard in the diagnosis and differentiation of particular disorders. This paper presents a scheme for automated classification from magnetic resonance images based on multiresolution representation in the wavelet domain. Implementation of the proposed algorithm, utilizing support vector machines classifier, is introduced and tested on a dataset containing 104 patients with first episode schizophrenia and healthy volunteers. Optimal parameters of different phases of the algorithm are sought and the quality of classification is estimated by robust cross validation techniques. Values of accuracy, sensitivity and specificity over 71% are achieved

    Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance

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    Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated. However, there are multiple indications that the impairment of the processes typically associated with cilia may have influence on the hematopoietic compartment and immunity. In this study, we analyze clinical data of BBS patients and corresponding mouse models carrying mutations in Bbs4 or Bbs18. We find that BBS patients have a higher prevalence of certain autoimmune diseases. Both BBS patients and animal models have altered red blood cell and platelet compartments, as well as elevated white blood cell levels. Some of the hematopoietic system alterations are associated with BBS‐induced obesity. Moreover, we observe that the development and homeostasis of B cells in mice is regulated by the transport complex BBSome, whose dysfunction is a common cause of BBS. The BBSome limits canonical WNT signaling and increases CXCL12 levels in bone marrow stromal cells. Taken together, our study reveals a connection between a ciliopathy and dysregulated immune and hematopoietic systems

    Intronic determinants coordinate charme lncRNA nuclear activity through the interaction with MATR3 and PTBP1

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    Chromatin architect of muscle expression (Charme) is a muscle-restricted long noncoding RNA (lncRNA) that plays an important role in myogenesis. Earlier evidence indicates that the nuclear Charme isoform, named pCharme, acts on the chromatin by assisting the formation of chromatin domains where myogenic transcription occurs. By combining RNA antisense purification (RAP) with mass spectrometry and loss-of-function analyses, we have now identified the proteins that assist these chromatin activities. These proteins—which include a sub-set of splicing regulators, principally PTBP1 and the multifunctional RNA/DNA binding protein MATR3—bind to sequences located within the alternatively spliced intron-1 to form nuclear aggregates. Consistent with the functional importance of pCharme interactome in vivo, a targeted deletion of the intron-1 by a CRISPR-Cas9 approach in mouse causes the release of pCharme from the chromatin and results in cardiac defects similar to what was observed upon knockout of the full-length transcript

    Alternative optical concept for electron cyclotron emission imaging

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    The implementation of advanced electron cyclotron emission imaging (ECEI) systems on tokamak experiments has revolutionized the diagnosis of magnetohydrodynamic (MHD) activities and improved our understanding of instabilities, which lead to disruptions. It is therefore desirable to have an ECEI system on the ITER tokamak. However, the large size of optical components in presently used ECEI systems have, up to now, precluded the implementation of an ECEI system on ITER. This paper describes a new optical ECEI concept that employs a single spherical mirror as the only optical component and exploits the astigmatism of such a mirror to produce an image with one-dimensional spatial resolution on the detector. Since this alternative approach would only require a thin slit as the viewing port to the plasma, it would make the implementation of an ECEI system on ITER feasible. The results obtained from proof-of-principle experiments with a 125 GHz microwave system are presented.open0

    Importing genetically altered animals : ensuring quality

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    The reproducibility of research using laboratory animals requires reliable management of their quality, in particular of their genetics, health and environment, all of which contribute to their phenotypes. The point at which these biological materials are transferred between researchers is particularly sensitive, as it may result in a loss of integrity of the animals and/or their documentation. Here, we describe the various aspects of laboratory animal quality that should be confirmed when sharing rodent research models. We also discuss how repositories of biological materials support the scientific community to ensure the continuity of the quality of laboratory animals. Both the concept of quality and the role of repositories themselves extend to all exchanges of biological materials and all networks that support the sharing of these reagents.Peer reviewe
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