39 research outputs found
U-Pb zircon age of Ordovician magmatism in the Albera Massif (Eastern Pyrenees)
New geochronological data from the Albera Massif confirm the presence of an Early – Mid Ordovician igneous event (472 - 465Ma) recorded in the pre-Variscan rocks of the Pyrenees. This event resulted in the emplacement of a large granitic body in the lower part of the pre-Upper Ordovician metasedimentary succession and in the intrusion of a series of metric sized dykes in the middle and upper parts of it. The two types of igneous rocks were gneissified during subsequent Variscan deformation. The geochronological data confirm the occurrence of the gneiss as having derived from an Ordovician intrusive sheet, as in other Pyrenean massifs. The dykes are considered to be the subvolcanic equivalent of the intrusive sheet. The data also provide insight into the age of the metasedimentary series of the massif and enable us to correlate the dated rocks with other gneissic and subvolcanic bodies of the Variscan massifs of the Pyrenees and Iberia
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
Background
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients.
Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between genotype, biochemical parameters and clinical data at diagnosis and during follow-up, in order to optimize monitoring of these patients.
Methods
We carried out a multicenter study in southwest Europe, of MCADD patients detected by NBS. Evaluated NBS data included free carnitine (C0) and the acylcarnitines C8, C10, C10:1 together with C8/C2 and C8/C10 ratios, clinical presentation parameters and genotype, in 45 patients. Follow-up data included C0 levels, duration of carnitine supplementation and occurrence of metabolic crises.
Results
C8/C2 ratio and C8 were the most accurate biomarkers of MCADD in NBS. We found a high number of patients homozygous for the prevalent c.985A > G mutation (75%). Moreover, in these patients C8, C8/C10 and C8/C2 were higher than in patients with other genotypes, while median value of C0 was significantly lower (23 μmol/L vs 36 μmol/L).
The average follow-up period was 43 months. To keep carnitine levels within the normal range, carnitine supplementation was required in 82% of patients, and for a longer period in patients homozygotes for the c.985A>G mutation than in patients with other genotypes (average 31 vs 18 months). Even with treatment, median C0 levels remained lower in homozygous patients than in those with other genotypes (14 μmol/L vs 22 μmol/L).
Two patients died and another three suffered a metabolic crisis, all of whom were homozygous for the c.985 A>G mutation.
Conclusions
Our data show a direct association between homozygosity for c.985A>G and lower carnitine values at diagnosis, and a higher dose of carnitine supplementation for maintenance within the normal range. This study contributes to a better understanding of the relationship between genotype and phenotype in newborn patients with MCADD detected through screening which could be useful in improving follow-up strategies and clinical outcome
Search for supersymmetry in electroweak production with photons and large missing transverse energy in pp collisions at √s=8TeV
Open Access funded by SCOAP³ - Sponsoring Consortium for Open Access Publishing in Particle Physics.-- et al.Results are reported from a search for supersymmetry with gauge-mediated supersymmetry breaking in electroweak production. Final states with photons and large missing transverse energy ( EmissT ) were examined. The data sample was collected in pp collisions at √s=8TeV with the CMS detector at the LHC and corresponds to 7.4fb. The analysis focuses on scenarios in which the lightest neutralino has bino- or wino-like components, resulting in decays to photons and gravitinos, where the gravitinos escape undetected. The data were obtained using a specially designed trigger with dedicated low thresholds, providing good sensitivity to signatures with photons, EmissT , and low hadronic energy. No excess of events over the standard model expectation is observed. The results are interpreted using the model of general gauge mediation. With the wino mass fixed at 10GeV above that of the bino, wino masses below 710GeV are excluded at 95% confidence level. Constraints are also set in the context of two simplified models, for which the analysis sets the lowest cross section limits on the electroweak production of supersymmetric particles.Funded by SCOAP3.Peer Reviewe
Search for narrow resonances decaying to dijets in proton-proton collisions at √s=13 TeV
et al.A search for narrow resonances in proton-proton collisions at √s=13 TeV is presented. The invariant mass distribution of the two leading jets is measured with the CMS detector using a data set corresponding to an integrated luminosity of 2.4 fb−1. The highest observed dijet mass is 6.1 TeV. The distribution is smooth and no evidence for resonant particles is observed. Upper limits at 95% confidence level are set on the production cross section for narrow resonances with masses above 1.5 TeV. When interpreted in the context of specific models, the limits exclude string resonances with masses below 7.0 TeV, scalar diquarks below 6.0 TeV, axigluons and colorons below 5.1 TeV, excited quarks below 5.0 TeV, color-octet scalars below 3.1 TeV, and W′ bosons below 2.6 TeV. These results significantly extend previously published limits.Peer Reviewe
Measurements of tt¯ spin correlations and top quark polarization using dilepton final states in pp collisions at √s=8 TeV
et al.Measurements of the top quark-antiquark (tt¯) spin correlations and the top quark polarization are presented for tt¯ pairs produced in pp collisions at √s=8 TeV. The data correspond to an integrated luminosity of 19.5 fb−1 collected with the CMS detector at the LHC. The measurements are performed using events with two oppositely charged leptons (electrons or muons) and two or more jets, where at least one of the jets is identified as originating from a bottom quark. The spin correlations and polarization are measured from the angular distributions of the two selected leptons, both inclusively and differentially, with respect to the invariant mass, rapidity, and transverse momentum of the tt¯ system. The measurements are unfolded to the parton level and found to be in agreement with predictions of the standard model. A search for new physics in the form of anomalous top quark chromo moments is performed. No evidence of new physics is observed, and exclusion limits on the real part of the chromo-magnetic dipole moment and the imaginary part of the chromo-electric dipole moment are evaluated.Individuals have received support from the Marie-Curie programme and the European Research Council and EPLANET (European Union); the Leventis Foundation; the A. P. Sloan Foundation; the Alexander von Humboldt Foundation; the Belgian Federal Science Policy Office; the Fonds pour la Formation à la Recherche dans l’Industrie et
dans l’Agriculture (FRIA-Belgium); the Agentschap voor Innovatie door Wetenschap en Technologie (IWTBelgium); the Ministry of Education, Youth and Sports (MEYS) of the Czech Republic; the Council of Science and Industrial Research, India; the HOMING PLUS programme of the Foundation for Polish Science, cofinanced from European Union, Regional Development Fund; the OPUS programme of the National Science Center (Poland); the Compagnia di San Paolo (Torino); MIUR project 20108T4XTM (Italy); the Thalis and Aristeia programmes cofinanced by EU-ESF and the Greek NSRF; the National Priorities Research Program by Qatar National Research Fund; the Rachadapisek Sompot Fund for Postdoctoral Fellowship, Chulalongkorn University (Thailand); the Chulalongkorn Academic into Its 2nd Century Project Advancement Project (Thailand); and the Welch Foundation, Contract No. C-1845.Peer Reviewe
Spread of a SARS-CoV-2 variant through Europe in the summer of 2020.
Following its emergence in late 2019, the spread of SARS-CoV-21,2 has been tracked by phylogenetic analysis of viral genome sequences in unprecedented detail3–5. Although the virus spread globally in early 2020 before borders closed, intercontinental travel has since been greatly reduced. However, travel within Europe resumed in the summer of 2020. Here we report on a SARS-CoV-2 variant, 20E (EU1), that was identified in Spain in early summer 2020 and subsequently spread across Europe. We find no evidence that this variant has increased transmissibility, but instead demonstrate how rising incidence in Spain, resumption of travel, and lack of effective screening and containment may explain the variant’s success. Despite travel restrictions, we estimate that 20E (EU1) was introduced hundreds of times to European countries by summertime travellers, which is likely to have undermined local efforts to minimize infection with SARS-CoV-2. Our results illustrate how a variant can rapidly become dominant even in the absence of a substantial transmission advantage in favourable epidemiological settings. Genomic surveillance is critical for understanding how travel can affect transmission of SARS-CoV-2, and thus for informing future containment strategies as travel resumes. © 2021, The Author(s), under exclusive licence to Springer Nature Limited
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
We found that 19 (10.4%) of 183 unvaccinated children hospitalized for COVID-19 pneumonia had autoantibodies (auto-Abs) neutralizing type I IFNs (IFN-alpha 2 in 10 patients: IFN-alpha 2 only in three, IFN-alpha 2 plus IFN-omega in five, and IFN-alpha 2, IFN-omega plus IFN-beta in two; IFN-omega only in nine patients). Seven children (3.8%) had Abs neutralizing at least 10 ng/ml of one IFN, whereas the other 12 (6.6%) had Abs neutralizing only 100 pg/ml. The auto-Abs neutralized both unglycosylated and glycosylated IFNs. We also detected auto-Abs neutralizing 100 pg/ml IFN-alpha 2 in 4 of 2,267 uninfected children (0.2%) and auto-Abs neutralizing IFN-omega in 45 children (2%). The odds ratios (ORs) for life-threatening COVID-19 pneumonia were, therefore, higher for auto-Abs neutralizing IFN-alpha 2 only (OR [95% CI] = 67.6 [5.7-9,196.6]) than for auto-Abs neutralizing IFN-. only (OR [95% CI] = 2.6 [1.2-5.3]). ORs were also higher for auto-Abs neutralizing high concentrations (OR [95% CI] = 12.9 [4.6-35.9]) than for those neutralizing low concentrations (OR [95% CI] = 5.5 [3.1-9.6]) of IFN-omega and/or IFN-alpha 2
Petrophysical properties and durability of the Touro amphibolites (A Coruña, Spain) used in civil engineering
[EN] Nowadays, Touro amphibolites (La Coruña, Spain) are exploited as crushed-rock aggregates in civil engineering. These materials are mainly used as ballast for road construction. Therefore, it is interesting to study these materials in function of several parameters obtained directly in quarry faces. For this purpose, the same techniques and tests previously applied in other fields such as natural stone have been used. The aim of this work is to study the quality and durability of Touro amphibolites when subjected to extreme temperature, water and salt (NaCl) actions. The NaCl is included in this study because it is commonly used as fluxing material in pavements and roads. The quality of these amphibolites, a classification based on the concrete and road tests and the techniques applied, is good. The best properties of these materials are their low porosity and high ability to compact. They also have a high durability under the action of extreme temperatures, salts and water. These results also indicate that these amphibolites can better support high temperature rather than low temperature degradation. To sum up, we can state that Touro amphibolites are good building materials for roads and concrete but it is important to consider their anisotropy and sulphur content.[ES] En la actualidad, las anfibolitas de Touro (A Coruña, España) son explotadas para ser utilizadas regionalmente
como áridos de machaqueo para su uso en obra civil, principalmente como materiales de préstamo
o en carreteras, por lo que se ha considerado interesante profundizar en el conocimiento de las propiedades
petrofísicas de esta variedad pétrea, así como en sus variaciones para poder evaluar su grado de calidad y
durabilidad, antes de fijar su uso como árido. La obtención de esta información sobre la anfibolita de Touro se
hace necesaria al no existir documentación accesible.
Las anfibolitas de Touro son una variedad pétrea de gran calidad, debido a que su textura cristalina condiciona
la presencia de una porosidad escasa y un alto grado de compacidad. Además, también son materiales
de gran durabilidad frente a la acción combinada del agua, el NaCl y las temperaturas extremas (condiciones
frecuentes en la mayoría de las carreteras de montaña y del norte peninsular), aunque pueden verse afectadas
superficialmente por la acción física de las bajas temperaturas, en presencia del agua y el NaCl, lo que se
traduce en la aparición de una importante red de fisuras intercristalinas.
Este estudio demuestra que las anfibolitas Touro son materiales buenos para la construcción de carreteras,
pero es importante controlar su grado de anisotropía y el contenido en sulfuros.Peer Reviewe
La mélange tectónica basal del Complejo de Cabo Ortegal (NW del Macizo Ibérico): una unidad clave en la sutura de Pangea
[EN] Recent field work and mapping in the lower units of the Cabo Ortegal Complex provided new data about the tectonic mélange that
appears in the lowest structural position: the Somozas Mélange. This mélange unit with average thickness of 1800 m is restricted to
the eastern part of the complex, and is located at the advancing front of the allochthonous complexes of NW Iberia. Three rock units
are involved in the mélange: 1) an ophiolitic mélange consisting of igneous rocks mixed with serpentinites; 2) a metasedimentary
unit with phyllites and phyllonites, with scarce conglomerates, marbles and quartzites; 3) high-T metamorphic rocks with varied
types of amphibolites and orthogneisses.[ES] Nuevos datos de campo y cartográficos en las unidades inferiores del Complejo de Cabo Ortegal, han proporcionado información
relevante sobre la mélange tectónica situada en la posición estructural inferior: la Mélange de Somozas. Esta unidad de mélange
tiene una potencia media de unos 1800 m y su aparición está restringida a la parte oriental del complejo; representa por tanto una
gran unidad de mezcla localizada en el frente de avance de los complejos alóctonos del NW de Iberia. Tres conjuntos litológicos
diferentes se distinguen en la mélange: 1) un conjunto formado por rocas ígneas mezcladas con serpentinitas, formando una mélange
ofiolítica típica; 2) un conjunto metasedimentario con filitas y filonitas, con escasos conglomerados, mármoles y cuarcitas; 3) rocas
metamórficas de alta-T con tipos variados de anfibolitas y ortogneises.Financial support for this research has been provided
by Spanish project CGL2007-65338-CO2-01/BTE (Ministerio
de Ciencia e Innovación).Peer reviewe
Using petrographic techniques to evaluate the induced effects of NaCl, extreme climatic conditions, and traffic load on Spanish road surfaces
The asphalt surface layer is the most exposed to weather and traffic conditions on roads, especially
those subjected to winter maintenance. Therefore, a deep knowledge of the mechanisms which can damage this
layer is necessary to improve its design, construction and long-term use. With this purpose, two types of asphalt
mixtures used on roads from NW Spain were subjected to durability tests (freezing-thaw and thermal-stress)
with a saturated NaCl solution. After the durability tests, a wheel tracking test was performed on the samples,
and the resultant material was analyzed by optical polarized light and fluorescence microscopy. This analysis
showed that the binder-aggregate low adhesion was the main responsible of the asphalt mixture damage. This
damage was concentrated in the aggregates because the binder acted as an impermeable wall. Consequently, the
NaCl solution penetrated and degraded the aggregates quickly and strongly.This research was partly funded through the
Community of Madrid under the project S2013/
MIT-2914 (GEOMATERIALS-2CM) and the Grant
Program from the CEDEX Research Agency (BOE
27/06/2009).Peer reviewe