46 research outputs found

    Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

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    Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L-deficient cells. Cytokine production in RNase L-deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS-RNase L deficiencies in these patients unleash the production of SARS-CoV-2-triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C

    Consolidamento e innovazione nelle survey transnazionali europee

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    Cross-national surveys allow for scientific research that is based on openaccess data, addresses the challenges of maintaining the sustainability of such programs, and provides high quality data and comparability across different cultural contexts. This essay analyzes the methodological and organizational approaches of the two main cross-national surveys in Europe (European Values Study and European Social Survey) in relation to these challenges. The experience coming from these programs suggests that the common good produced by these surveys to the benefit of the national and international scientific community is in need of a bigger investment in developing research infrastructure and greater support from the scientific community itself

    Church Attendance and Religious change Pooled European dataset (CARPE)

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    The CARPE project has been developed to empirically address the religious change and secularization debate. The present data set contains aggregate survey-based estimates for the proportion of persons attending church, according to various frequency/probability thresholds. Further variables are sample shares of denominations, proportion female, average respondent age, proportions of rough educational attainment groups, and identifiers for country, year, and survey programme. The pooled dataset involves 45 European countries and spans the years 1973 to 2016, with variable density of coverage across the countries. Those countries are Albania, Austria, Armenia, Belgium, Bosnia Herzegovina, Bulgaria, Belarus, Croatia, Cyprus, Northern Cyprus, Czech Republic, Denmark, Estonia, Finland, France, Georgia, Germany, Greece, Hungary, Iceland, Ireland, Italy, Kosovo, Latvia, Lithuania, Luxembourg, Macedonia, Malta, Moldova, Montenegro, Netherlands, Norway, Poland, Portugal, Romania, Russian Federation, Serbia, Slovak Republic, Slovenia, Spain, Sweden, Switzerland, Turkey, Ukraine, United Kingdom. Estimates were derived from the individual-level data of the following survey programmes: \u2022 Eurobarometer (http://ec.europa.eu/public_opinion/), \u2022 European Social Survey (ESS), (http://www.europeansocialsurvey.org/), \u2022 European Values Study (EVS), (http://www.europeanvaluesstudy.eu/), \u2022 International Social Survey Programme (ISSP) (http://www.issp.org/), \u2022 World Values Survey (WVS) (http://www.worldvaluessurvey.org/

    Emergent treatment of aortic rupture in acute type B dissection

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    Massive left hemothorax is a rare and dramatic complication of acute type B aortic dissection. The primary endpoint is to treat the aortic rupture, stop the bleeding and stabilize the hemodynamic status, with the aim to prevent mortality and major cardiac, cerebral, visceral and renal complications. Thoracic endovascular repair (TEVAR) is the most frequent management, although its planning, in these emergent patients, may be very difficult and sub-optimal imaging may result at post-operative examination (CT and MRI). In case of TEVAR is not the definitive treatment of the aortic disease, a second stage surgical management can be performed in elective status, in a patient with a total clinical recover. In acute and dramatic circumstances, like ruptured type B dissection, TEVAR is a valid and suitable bridge procedure to open surgery, reducing the overall risk for mortality and major complications

    Deep learning-based analysis to identify fluid-structure interaction effects during the response of blast-loaded plates

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    Blast events within urban areas in recent decades necessitate that protective design is no longer reserved for military installations. Modern civil infrastructure composed of light-weight, flexible materials has introduced the consideration of fluid-structure interaction (FSI) effects in blast-resistant design. While the action of blast loading on massive, rigid structures in military fortifications is well established, assessment of FSI effects is, at present, only possible through computationally expensive coupled simulations. In this study, a data-driven approach is proposed to assist in the identification of the blast-loading scenarios for which FSI effects play a significant role. A series of feed-forward deep neural networks (DNNs) were designed to learn weighted associations between characteristics of uncoupled simulations and a correction factor determined by the out-of-plane displacement arising from FSI effects in corresponding coupled simulations. The DNNs were trained, validated and tested on simulation results of various blast-loading conditions and material parameters for metallic target plates. DNNs exposed to mass-per-unit-area, identified as an influential factor in quantifying FSI effects, generalised well across a range of unseen data. The explainability approach was used to highlight the driving parameters of FSI effect predictions which further evidenced the findings. The ability to provide quick assessments of FSI influence may serve to identify opportunities to exploit FSI effects for improved structural integrity of light-weight protective structures where the use of uncoupled numerical models is currently limited

    Open fenestration for complicated acute aortic B dissection

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    Acute type B aortic dissection (ABAD) is a serious cardiovascular emergency in which morbidity and mortality are often related to the presence of complications at clinical presentation. Visceral, renal, and limb ischemia occur in up to 30% of patients with ABAD and are associated with higher in-hospital mortality. The aim of the open fenestration is to resolve the malperfusion by creating a single aortic lumen at the suprarenal or infrarenal level. This surgical procedure is less invasive than total aortic replacement, thus not requiring extracorporeal support and allowing preservation of the intercostal arteries, which results in decreased risk of paraplegia. Surgical aortic fenestration represents an effective and durable option for treating ischemic complications of ABAD, particularly for patients with no aortic dilatation. In the current endovascular era, this open technique serves as an alternative option in case of contraindications or failure of endovascular management of complicated ABAD
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