73 research outputs found

    Human Bone RIgeneration in MAXillo-facial area using an innovative medical device for Tissue engineering (BRIMAX)

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    Bone regeneration today is one of the most important challenges for medicine and the need for this is particularly evident in the maxillo-facial area: our clinical trial will be based on a model of bone defect as in alveolar socket preservation and sinus lift augmentation, well described surgical techniques. The RIGENERA® system permits extraction of stem cells from a small sample of connective tissue obtained from the patient’s lingual mucosa or from a post-extraction surgical site (where an endosseous implant may be inserted), dental pulp or dental follicle. Our project is to demonstrate the efficacy in the maxillo-facial area of an innovative clinical protocol of bone tissue engineering based on a new medical device called Rigeneracons (CE certified Class I). Our clinical trial use already acquired technologies in comparation with new technologies (new selection methods, new Bio-compatible materials etc.) produced by us. Besides, we perform an in-vitro test to quantify the proliferative capacity of a cellular suspension obtained after disaggregation of connective tissue originating from the oral cavity using the RIGENERA® system, a biologic tissue disaggregator (Human Brain Wave–Torino, Italy) that recently came on the market. Evaluation of the histologic characteristics of neo-formed osseous tissue will be shown and discussed

    Coming full circle: Differential empowerment in the EU accession process

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    The EU accession process brings a profound transformation not only to candidate countries’ institutions and policies, but also to the political opportunity structure in place, creating new possibilities for previously marginalised actors. Studying the differential empowerment of NGOs throughout the Croatian accession process, this paper makes two related claims: first, differential empowerment depends crucially on domestic actors’ awareness for and ability to use new opportunities to their advantage. Second, an overreliance on EU leverage poses important temporal and substantive limits on NGO empowerment and leads to a rapid decline of their relevance in the post-accession phase. I argue that a more sustainable shift in the domestic power balance would require both the EU and domestic civil society actors to place more emphasis on fostering improved practices of civil society inclusion in domestic policymaking settings throughout the accession process

    De Novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism

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    SOX4, together with SOX11 and SOX12, forms group C of SRY-related (SOX) transcription factors. They play key roles, often in redundancy, in multiple developmental pathways, including neurogenesis and skeletogenesis. De novo SOX11 heterozygous mutations have been shown to cause intellectual disability, growth deficiency, and dysmorphic features compatible with mild Coffin-Siris syndrome. Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities. SOX4 is highly expressed in areas of active neurogenesis in human fetuses, and sox4 knockdown in Xenopus embryos diminishes brain and whole-body size. The SOX4 variants cluster in the highly conserved, SOX family-specific HMG domain, but each alters a different residue. In silico tools predict that each variant affects a distinct structural feature of this DNA-binding domain, and functional assays demonstrate that these SOX4 proteins carrying these variants are unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells. These variants are not found in the gnomAD database of individuals with presumably normal development, but 12 other SOX4 HMG-domain missense variants are recorded and all demonstrate partial to full activity in the reporter assay. Taken together, these findings point to specific SOX4 HMG-domain missense variants as the cause of a characteristic human neurodevelopmental disorder associated with mild facial and digital dysmorphism

    Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

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    Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits. A genetic risk score, calculated to assess their combined effects on clinical end points, shows significant associations with increased risk of both overt (Graves' disease) and subclinical thyroid disease, as well as clinical complications. By functional follow-up on selected signals, we identify a novel thyroid hormone transporter (SLC17A4) and a metabolizing enzyme (AADAT). Together, these results provide new knowledge about thyroid hormone physiology and disease, opening new possibilities for therapeutic targets

    Search for jet extinction in the inclusive jet-pT spectrum from proton-proton collisions at s=8 TeV

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    Published by the American Physical Society under the terms of the Creative Commons Attribution 3.0 License. Further distribution of this work must maintain attribution to the author(s) and the published articles title, journal citation, and DOI.The first search at the LHC for the extinction of QCD jet production is presented, using data collected with the CMS detector corresponding to an integrated luminosity of 10.7  fb−1 of proton-proton collisions at a center-of-mass energy of 8 TeV. The extinction model studied in this analysis is motivated by the search for signatures of strong gravity at the TeV scale (terascale gravity) and assumes the existence of string couplings in the strong-coupling limit. In this limit, the string model predicts the suppression of all high-transverse-momentum standard model processes, including jet production, beyond a certain energy scale. To test this prediction, the measured transverse-momentum spectrum is compared to the theoretical prediction of the standard model. No significant deficit of events is found at high transverse momentum. A 95% confidence level lower limit of 3.3 TeV is set on the extinction mass scale

    Searches for electroweak neutralino and chargino production in channels with Higgs, Z, and W bosons in pp collisions at 8 TeV

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    Searches for supersymmetry (SUSY) are presented based on the electroweak pair production of neutralinos and charginos, leading to decay channels with Higgs, Z, and W bosons and undetected lightest SUSY particles (LSPs). The data sample corresponds to an integrated luminosity of about 19.5 fb(-1) of proton-proton collisions at a center-of-mass energy of 8 TeV collected in 2012 with the CMS detector at the LHC. The main emphasis is neutralino pair production in which each neutralino decays either to a Higgs boson (h) and an LSP or to a Z boson and an LSP, leading to hh, hZ, and ZZ states with missing transverse energy (E-T(miss)). A second aspect is chargino-neutralino pair production, leading to hW states with E-T(miss). The decays of a Higgs boson to a bottom-quark pair, to a photon pair, and to final states with leptons are considered in conjunction with hadronic and leptonic decay modes of the Z and W bosons. No evidence is found for supersymmetric particles, and 95% confidence level upper limits are evaluated for the respective pair production cross sections and for neutralino and chargino mass values
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