L'experimentació amb primats no humans present i futur

Treball presentat a l'assignatura de Deontologia i Veterinària Legal (21223

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAMTSL4, FBN1, LTBP2, ADAMTSL-10 and ADAMTSL17). The purpose of the present study is to identify the genetic cause of this pathology in a consanguineous Spanish family. A clinical exome sequencing experiment was executed by the TruSight One® Sequencing Panel (TSO) from Illumina©. Sanger sequencing was used to validate the NGS results. Only the insertion of an adenine in exon 36 of the LTBP2 gene (c.5439_5440insA) was associated with pathogenicity. This new mutation was validated by Sanger sequencing and segregation analysis was also performed. Haplotype analyses using the polymorphic markers D14S1025, D14S43 and D14S999 close to the LTBP2 gene indicated identity by descent in this family. We describe the first case of a microspherophakia phenotype associated with a novel homozygous mutation in the LTBP2 gene in a consanguineous Caucasian family by means of NGS technology

CEIP Es Pont : Per què feim una hora setmanal de filosofia? Projectes de treball i filosofia 3/18

Abstract not availablehttp://ibdigital.uib.es/greenstone/collect/bonesPractiquesEntornsPedagogics/index/assoc/bonesPra.dir/cover.jp

Anti-TNF: Novel treatment in ocular sarcoidosis

Obejtivo: Se pretende demostrar la utilidad de la angiografía con fluoresceína y verde de indocianina en el diagnóstico y manejo de la sarcoidosis ocular, así como la utilidad de los fármacos biológicos en esta patología. Métodos: Para ello, se presenta un caso clínico de sarcoidosis sistémica y ocular tratada durante años con corticoides e inmunomoduladores, con mal control de la enfermedad. La principal afectación era la del segmento posterior del ojo, con numerosos signos en coroides y retina estudiados a través de angiografía e imagen multimodal. Resultados: Sólo tras instaurar tratamiento con Infliximab, se consigue la remisión de la enfermedad y la recuperación completa de la agudeza visual.Purpose: Utility of fluorescein and indocyanine green angiography in ocular sarcoidosis is shown. In addition, Infliximab is a reliable and useful tool in sarcoidosis treatment. Methods: A clinical case of systemic and ocular sarcoidosis with long follow up is reported. Choroidal and retinal affectations were the most severe ocular manifestation. Corticosteroids and immunosuppressive therapy could not control the disease. Multimodal imaging helped us to show Infliximab efficacy. Results: Complete remission of the ocular and systemic disease was reached with Infliximab

The PAU survey: Estimating galaxy photometry with deep learning

With the dramatic rise in high-quality galaxy data expected from Euclid and Vera C. Rubin Observatory, there will be increasing demand for fast high-precision methods for measuring galaxy fluxes. These will be essential for inferring the redshifts of the galaxies. In this paper, we introduce Lumos, a deep learning method to measure photometry from galaxy images. Lumos builds on BKGnet, an algorithm to predict the background and its associated error, and predicts the background-subtracted flux probability density function. We have developed Lumos for data from the Physics of the Accelerating Universe Survey (PAUS), an imaging survey using 40 narrow-band filter camera (PAUCam). PAUCam images are affected by scattered light, displaying a background noise pattern that can be predicted and corrected for. On average, Lumos increases the SNR of the observations by a factor of 2 compared to an aperture photometry algorithm. It also incorporates other advantages like robustness towards distorting artifacts, e.g. cosmic rays or scattered light, the ability of deblending and less sensitivity to uncertainties in the galaxy profile parameters used to infer the photometry. Indeed, the number of flagged photometry outlier observations is reduced from 10% to 2%, comparing to aperture photometry. Furthermore, with Lumos photometry, the photo-z scatter is reduced by ~10% with the Deepz machine learning photo-z code and the photo-z outlier rate by 20%. The photo-z improvement is lower than expected from the SNR increment, however currently the photometric calibration and outliers in the photometry seem to be its limiting factor.Comment: 20 pages, 22 figure

Dual targeted therapy in patients with psoriatic arthritis and spondyloarthritis: a real-world multicenter experience from Spain

Dual targeted therapy (DTT) has emerged as a promising approach in patients with refractory spondyloarthritis (SpA) or psoriatic arthritis (PsA) and extra-musculoskeletal manifestations of both diseases, but its effectiveness/safety ratio still remains unclear. This is a retrospective, real-world multicenter study in refractory SpA and PsA patients with simultaneous use of two biological or synthetic targeted agents. Effectiveness was assessed using Ankylosing Spondylitis Disease Activity Score with C-reactive protein (ASDAS-CRP) and Disease Activity in Psoriatic Arthritis (DAPSA) Score. We identified 39 different DTT combinations in 36 patients (22 SpA; 14 PsA), 25 of them with concomitant inflammatory bowel disease. The most commonly used combinations were TNF inhibitor plus antagonist of the IL12/23 pathway, followed by TNF inhibitor plus IL-17 antagonist. During a median exposure of 14.86 months (IQR 8-20.2), DTT retention rate was 69.4% (n=25/36; 19 SpA, 6 PsA). Major clinical improvement (change in ASDAS-CRP > 2 or improvement > 85% in DAPSA) was achieved in 69.4% of patients (n=25/36 therapeutical combinations; 17/21 SpA, 8/15 PsA), with a 58.3% (n=21/36 combinations; 15/20 SpA, 6/13 PsA) low-activity/remission rate. Of the patients who were receiving glucocorticoids, 55% managed to withdraw them during follow-up. Interestingly, only four serious adverse events in three patients were observed, leading to DTT discontinuation

The PAU Survey: Intrinsic alignments and clustering of narrow-band photometric galaxies

We present the first measurements of the projected clustering and intrinsic alignments (IA) of galaxies observed by the Physics of the Accelerating Universe Survey (PAUS). With photometry in 40 narrow optical passbands (4500 Å–8500 Å), the quality of photometric redshift estimation is σz ∼ 0.01(1 + z) for galaxies in the 19 deg2 Canada-France-Hawaii Telescope Legacy Survey W3 field, allowing us to measure the projected 3D clustering and IA for flux-limited, faint galaxies (i < 22.5) out to z ∼ 0.8. To measure two-point statistics, we developed, and tested with mock photometric redshift samples, ‘cloned’ random galaxy catalogues which can reproduce data selection functions in 3D and account for photometric redshift errors. In our fiducial colour-split analysis, we made robust null detections of IA for blue galaxies and tentative detections of radial alignments for red galaxies (∼1 − 3σ), over scales of 0.1 − 18 h−1 Mpc. The galaxy clustering correlation functions in the PAUS samples are comparable to their counterparts in a spectroscopic population from the Galaxy and Mass Assembly survey, modulo the impact of photometric redshift uncertainty which tends to flatten the blue galaxy correlation function, whilst steepening that of red galaxies. We investigate the sensitivity of our correlation function measurements to choices in the random catalogue creation and the galaxy pair-binning along the line of sight, in preparation for an optimised analysis over the full PAUS area

The PAU survey: close galaxy pairs identification and analysis

Galaxy pairs constitute the initial building blocks of galaxy evolution, which is driven through merger events and interactions. Thus, the analysis of these systems can be valuable in understanding galaxy evolution and studying structure formation. In this work, we present a new publicly available catalogue of close galaxy pairs identified using photometric redshifts provided by the Physics of the Accelerating Universe Survey (PAUS). To efficiently detect them, we take advantage of the high-precision photo−z (σ68 < 0.02) and apply an identification algorithm previously tested using simulated data. This algorithm considers the projected distance between the galaxies (rp < 50 kpc), the projected velocity difference (ΔV < 3500 km s−1) and an isolation criterion to obtain the pair sample. We applied this technique to the total sample of galaxies provided by PAUS and to a subset with high-quality redshift estimates. Finally, the most relevant result we achieved was determining the mean mass for several subsets of galaxy pairs selected according to their total luminosity, colour, and redshift, using galaxy–galaxy lensing estimates. For pairs selected from the total sample of PAUS with a mean r-band luminosity 1010.6 h−2 L⊙, we obtain a mean mass of M200 = 1012.2 h−1 M⊙, compatible with the mass–luminosity ratio derived for elliptical galaxies. We also study the mass-to-light ratio M/L as a function of the luminosity L and find a lower M/L (or steeper slope with L) for pairs than the one extrapolated from the measurements in groups and galaxy clusters.The PAU Survey is partially supported by MINECO under grants CSD2007-00060, AYA2015-71825, ESP2017-89838, PGC2018-094773, PGC2018-102021, PID2019-111317GB, SEV-2016-0588, SEV-2016-0597,MDM-2015-0509 and Juan de la Cierva fellowship and LACEGAL and EWC Marie Sklodowska-Curie grant numbers 734374 and 776247 with ERDF funds from the EU Horizon 2020 Programme, some of which include ERDF funds from the European Union. IEEC and IFAE are partially funded by the CERCA and Beatriu de Pinos program of the Generalitat de Catalunya. Funding for PAUS has also been provided by Durham University (via the ERC StG DEGAS-259586), ETH Zurich, Leiden University (via ERC StG ADULT-279396 and Netherlands Organisation for Scientific Research (NWO) Vici grant 639.043.512), University College London and from the European Union’s Horizon 2020 research and innovation programme under the grant agreement number 776247 EWC. This project has received funding from the European Union’s Horizon 2020 Research and Innovation Programme under the Marie Sklodowska-Curie grant agreement number 734374. This work was also partially supported by the Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET, Argentina) and the Secretaría de Ciencia y Tecnología de la Universidad Nacional de Córdoba (SeCyT-UNC, Argentina). This work has been also partially supported by the Polish National Agency for Academic Exchange (Bekker grant BPN/BEK/2021/1/00298/DEC/1), the European Union’s Horizon 2020 Research and Innovation programme under the Marie Sklodowska-Curie grant agreement (number 754510). H. Hildebrandt is supported by a Heisenberg grant of the Deutsche Forschungsgemeinschaft (Hi 1495/5-1) as well as an ERC consolidator grant (number 770935). A. Wittje is supported by the DFG (SFB 1491).Peer reviewe

Anglicismos presentes en el lenguaje del turismo

[spa] Los anglicismos están presentes por todo el idioma español exhibiéndose en muchos ámbitos de la vida. En este trabajo hemos analizado el uso de algunos anglicismos y su influencia en el mundo del turismo. Les hemos dado valor en la historia, hemos hablado de los orígenes y de la actualidad, de la evolución en el lenguaje general y en el ámbito turístico, los hemos definido, clasificado y expuesto su importancia en el idioma español y más concretamente dentro del sector turístico. Para esto último, hemos desarrollado un análisis de anglicismos en tres distintos portales web de noticias turísticas, los cuales son Hosteltur, Preferente y Tourinews. De cada portal hemos sacado diez artículos que contuvieran dos o más anglicismos diferentes para noviembre de 2020, diciembre de 2020 y enero de 2021. Los resultados de dichas búsquedas se han mostrado en tablas donde se exponen todos los anglicismos encontrados y de las que posteriormente se ha descrito su contenido y se han sacado una serie de conclusiones.[eng] Anglicisms are present in the whole Spanish language and they can be found in many areas of life. In this dissertation we have analysed the usage of some anglicisms and their influence in the world of tourism. We have described their value throughout history, we talked about their origins and the present situation, of the way in which they have evolved in the general language and in the tourism field, we have defined, classified and exposed their importance in the Spanish language and more specifically within the touristic sector. For the latter, we have analysed the anglicisms present in three different web pages of tourism news, which are Hosteltur, Preferente and Tourinews. From each of them we have taken ten articles with two or more different anglicisms for November 2020, December 2020 and January 2021. The results from these searches are showed in tables where all the anglicisms found are exposed; finally, we have described their content and a series of conclusions have been drawn