50 research outputs found
Performance of the First ANTARES Detector Line
In this paper we report on the data recorded with the first Antares detector
line. The line was deployed on the 14th of February 2006 and was connected to
the readout two weeks later. Environmental data for one and a half years of
running are shown. Measurements of atmospheric muons from data taken from
selected runs during the first six months of operation are presented.
Performance figures in terms of time residuals and angular resolution are
given. Finally the angular distribution of atmospheric muons is presented and
from this the depth profile of the muon intensity is derived.Comment: 14 pages, 9 figure
Social Models for Dealing with Inequalities
Production of INCASI Project H2020-MSCA-RISE-2015 GA 691004This chapter compares social models in Europe and Latin America. The goal is to study the interaction between two institutions: on the one hand, pre-distributive (ex ante) institutions, such as the structure and coverage of collective bargaining and, on the other hand, post-distributive (ex post) institutions, such as unemployment protection and social policy. Pre-distributive institutions are important for correcting inequalities in the labour market, because they introduce guidelines for egalitarian wage structures. Post-distributive institutions help to mitigate inequalities generated in the labour market. The methodology is based on statistical analysis of a series of indicators related to pre and post-distributive policies. The results present three types of model: (1) coordinated economies, typical of neo-corporatist Scandinavian countries; (2) mixed economies, typical of Mediterranean systems, and (3) uncoordinated economies, which equate to liberalism and the Latin American 'structural heterogeneity' model. It is neo-corporatist coordinated economies that generate the most pre and post-distributive equality. In turn, uncoordinated economies, and Latin American ones in particular, generate more inequalities due to highly informal employment and the weakness of their post-distributive institutions
The ANTARES Optical Beacon System
ANTARES is a neutrino telescope being deployed in the Mediterranean Sea. It
consists of a three dimensional array of photomultiplier tubes that can detect
the Cherenkov light induced by charged particles produced in the interactions
of neutrinos with the surrounding medium. High angular resolution can be
achieved, in particular when a muon is produced, provided that the Cherenkov
photons are detected with sufficient timing precision. Considerations of the
intrinsic time uncertainties stemming from the transit time spread in the
photomultiplier tubes and the mechanism of transmission of light in sea water
lead to the conclusion that a relative time accuracy of the order of 0.5 ns is
desirable. Accordingly, different time calibration systems have been developed
for the ANTARES telescope. In this article, a system based on Optical Beacons,
a set of external and well-controlled pulsed light sources located throughout
the detector, is described. This calibration system takes into account the
optical properties of sea water, which is used as the detection volume of the
ANTARES telescope. The design, tests, construction and first results of the two
types of beacons, LED and laser-based, are presented.Comment: 21 pages, 18 figures, submitted to Nucl. Instr. and Meth. Phys. Res.
Acoustic and optical variations during rapid downward motion episodes in the deep north-western Mediterranean Sea
An Acoustic Doppler Current Profiler (ADCP) was moored at the deep-sea site
of the ANTARES neutrino telescope near Toulon, France, thus providing a unique
opportunity to compare high-resolution acoustic and optical observations
between 70 and 170 m above the sea bed at 2475 m. The ADCP measured downward
vertical currents of magnitudes up to 0.03 m s-1 in late winter and early
spring 2006. In the same period, observations were made of enhanced levels of
acoustic reflection, interpreted as suspended particles including zooplankton,
by a factor of about 10 and of horizontal currents reaching 0.35 m s-1. These
observations coincided with high light levels detected by the telescope,
interpreted as increased bioluminescence. During winter 2006 deep dense-water
formation occurred in the Ligurian subbasin, thus providing a possible
explanation for these observations. However, the 10-20 days quasi-periodic
episodes of high levels of acoustic reflection, light and large vertical
currents continuing into the summer are not direct evidence of this process. It
is hypothesized that the main process allowing for suspended material to be
moved vertically later in the year is local advection, linked with topographic
boundary current instabilities along the rim of the 'Northern Current'.Comment: 30 pages, 7 figure
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants
Exonic variants present some of the strongest links between genotype and phenotype. However, these variants can have significant inter-individual pathogenicity differences, known as variable penetrance. In this study, we propose a model where genetically controlled mRNA splicing modulates the pathogenicity of exonic variants. By first cataloging exonic inclusion from RNA-sequencing data in GTEx V8, we find that pathogenic alleles are depleted on highly included exons. Using a large-scale phased whole genome sequencing data from the TOPMed consortium, we observe that this effect may be driven by common splice-regulatory genetic variants, and that natural selection acts on haplotype configurations that reduce the transcript inclusion of putatively pathogenic variants, especially when limiting to haploinsufficient genes. Finally, we test if this effect may be relevant for autism risk using families from the Simons Simplex Collection, but find that splicing of pathogenic alleles has a penetrance reducing effect here as well. Overall, our results indicate that common splice-regulatory variants may play a role in reducing the damaging effects of rare exonic variants.</p
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants
Exonic variants present some of the strongest links between genotype and phenotype. However, these variants can have significant inter-individual pathogenicity differences, known as variable penetrance. In this study, we propose a model where genetically controlled mRNA splicing modulates the pathogenicity of exonic variants. By first cataloging exonic inclusion from RNA-sequencing data in GTEx V8, we find that pathogenic alleles are depleted on highly included exons. Using a large-scale phased whole genome sequencing data from the TOPMed consortium, we observe that this effect may be driven by common splice-regulatory genetic variants, and that natural selection acts on haplotype configurations that reduce the transcript inclusion of putatively pathogenic variants, especially when limiting to haploinsufficient genes. Finally, we test if this effect may be relevant for autism risk using families from the Simons Simplex Collection, but find that splicing of pathogenic alleles has a penetrance reducing effect here as well. Overall, our results indicate that common splice-regulatory variants may play a role in reducing the damaging effects of rare exonic variants.</p
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants
Exonic variants present some of the strongest links between genotype and phenotype. However, these variants can have significant inter-individual pathogenicity differences, known as variable penetrance. In this study, we propose a model where genetically controlled mRNA splicing modulates the pathogenicity of exonic variants. By first cataloging exonic inclusion from RNA-sequencing data in GTEx V8, we find that pathogenic alleles are depleted on highly included exons. Using a large-scale phased whole genome sequencing data from the TOPMed consortium, we observe that this effect may be driven by common splice-regulatory genetic variants, and that natural selection acts on haplotype configurations that reduce the transcript inclusion of putatively pathogenic variants, especially when limiting to haploinsufficient genes. Finally, we test if this effect may be relevant for autism risk using families from the Simons Simplex Collection, but find that splicing of pathogenic alleles has a penetrance reducing effect here as well. Overall, our results indicate that common splice-regulatory variants may play a role in reducing the damaging effects of rare exonic variants.</p
First results of the Instrumentation Line for the deep-sea ANTARES neutrino telescope
In 2005, the ANTARES Collaboration deployed and operated at a depth of 2500 m a so-called Mini Instrumentation Line equipped with Optical Modules (MILOM) at the ANTARES site. The various data acquired during the continuous operation from April to December 2005 of the MILOM confirm the satisfactory performance of the Optical Modules, their front-end electronics and readout system. as well as the calibration devices of the detector. The in situ measurement of the Optical Module time response yields a resolution better than 0.5 ns. The performance of the acoustic positioning system, which enables the spatial reconstruction of the ANTARES detector with a precision of about 10 cm, is verified. These results demonstrate that with the full ANTARES neutrino telescope the design angular resolution of better than 0.3 degrees can be realistically achieved
The data acquisition system for the ANTARES neutrino telescope
The ANTARES neutrino telescope is being constructed in the Mediterranean Sea.
It consists of a large three-dimensional array of photo-multiplier tubes. The
data acquisition system of the detector takes care of the digitisation of the
photo-multiplier tube signals, data transport, data filtering, and data
storage. The detector is operated using a control program interfaced with all
elements. The design and the implementation of the data acquisition system are
described.Comment: 20 pages, 6 figures, accepted for publication in Nucl. Instrum. Meth.
Registro Español de Trasplante Cardiaco. XXXI Informe Oficial de la Asociación de Insuficiencia Cardiaca de la Sociedad Española de Cardiología
Introducción y objetivos
Se presentan las características clínicas y los resultados de los trasplantes cardiacos realizados en España con la actualización correspondiente a 2019.
Métodos
Se describen las características clínicas y los resultados de los trasplantes cardiacos realizados en 2019, así como las tendencias de estos en el periodo 2010-2018.
Resultados
En 2019 se realizaron 300 trasplantes (8.794 desde 1984; 2.745 entre 2010 y 2019). Respecto a años previos, los cambios más llamativos son el descenso hasta el 38% de los trasplantes realizados en código urgente, y la consolidación en el cambio de asistencia circulatoria pretrasplante, con la práctica desaparición del balón de contrapulsación (0, 7%), la estabilización del uso del oxigenador extracorpóreo de membrana (9, 6%) y el aumento de los dispositivos de asistencia ventricular (29%). La supervivencia en el trienio 2016-2018 es similar a la del trienio 2013-2015 (p = 0, 34), y ambas mejores que la del trienio 2010-2012 (p = 0, 002 y p = 0, 01 respectivamente).
Conclusiones
Se mantienen estables tanto la actividad del trasplante cardiaco en España como los resultados en supervivencia en los últimos 2 trienios. Hay una tendencia a realizar menos trasplantes urgentes, la mayoría con dispositivos de asistencia ventricular.
Introduction and objectives: The present report describes the clinical characteristics and outcomes of heart transplants in Spain and updates the data to 2019.
Methods: We describe the clinical characteristics and outcomes of heart transplants performed in Spain in 2019, as well as trends in this procedure from 2010 to 2018.
Results: In 2019, 300 transplants were performed (8794 since 1984; 2745 between 2010 and 2019). Compared with previous years, the most notable findings were the decreasing rate of urgent transplants (38%), and the consolidation of the type of circulatory support prior to transplant, with an almost complete disappearance of counterpulsation balloon (0.7%), stabilization in the use of extracorporeal membrane oxygenation (9.6%), and an increase in the use of ventricular assist devices (29.0%). Survival from 2016 to 2018 was similar to that from 2013 to 2015 (P = .34). Survival in both these periods was better than that from 2010 to 2012 (P = .002 and P = .01, respectively).
Conclusions: Heart transplant activity has remained stable during the last few years, as have outcomes (in terms of survival). There has been a trend to a lower rate of urgent transplants and to a higher use of ventricular assist devices prior to transplant