Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the ...most frequent causes of reversible blindness in childhood, the main objective of this study was to propose new responsible gene candidates that would allow a more targeted genetic approach and expand our genetic knowledge about the disease. We present a whole exome sequencing (WES) study of 20 Spanish families with non-syndromic pediatric cataracts and a previous negative result on an ophthalmology next-generation sequencing panel. After ophthalmological evaluation and collection of peripheral blood samples from these families, WES was performed. We were able to reach a genetic diagnosis in 10% of the families analyzed and found genes that could cause pediatric cataracts in 35% of the cohort. Of the variants found, 18.2% were classified as pathogenic, 9% as likely pathogenic, and 72.8% as variants of uncertain significance. However, we did not find conclusive results in 55% of the families studied, which suggests further studies are needed. The results of this WES study allow us to propose
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as potential candidates to further investigate for their role in pediatric cataracts, and
and locus 2q37 as causal genes.
Various different physical processes contribute to the star formation and stellar mass assembly histories of galaxies. One important approach to understanding the significance of these different ...processes on galaxy evolution is the study of the stellar population content of today's galaxies in a spatially resolved manner. The aim of this paper is to characterize in detail the radial structure of stellar population properties of galaxies in the nearby universe, based on a uniquely large galaxy sample, considering the quality and coverage of the data. The sample under study was drawn from the CALIFA survey and contains 300 galaxies observed with integral field spectroscopy. To study mean trends with overall galaxy properties, the individual radial profiles are stacked in seven bins of galaxy morphology (E, SO,Sa, Sb, Sbc, Sc, and Sd). The galaxies from the sample have decreasing-outward stellar extinction; all spirals show similar radial profiles, independent from the stellar mass, but redder than E and SO. Overall, we conclude that quenching processes act in manners that are independent of mass, while metallicity and galaxy structure are influenced by mass-dependent processes.
This paper describes the third public data release (DR3) of the Calar Alto Legacy Integral Field Area (CALIFA) survey. Science-grade quality data for 667 galaxies are made public, including the 200 ...galaxies of the second public data release (DR2). Data were obtained with the integral-field spectrograph PMAS/PPak mounted on the 3.5 m telescope at the Calar Alto Observatory. Three different spectral setups are available: i) a low-resolution V500 setup covering the wavelength range 3745-7500 A (4240-7140 A unvignetted) with a spectral resolution of 6.0 A (FWHM) for 646 galaxies, ii) a medium-resolution V1200 setup covering the wavelength range 3650-4840 A (3650-4620 A unvignetted) with a spectral resolution of 2.3 A (FWHM) for 484 galaxies, and iii) the combination of the cubes from both setups (called COMBO) with a spectral resolution of 6.0 A and a wavelength range between 3700-7500 A (3700-7140 A unvignetted) for 446 galaxies. The Main Sample, selected and observed according to the CALIFA survey strategy covers a redshift range between 0.005 and 0.03, spans the color-magnitude diagram and probes a wide range of stellar masses, ionization conditions, and morphological types. The Extension Sample covers several types of galaxies that are rare in the overall galaxy population and are therefore not numerous or absent in the CALIFA Main Sample. All the cubes in the data release were processed using the latest pipeline, which includes improved versions of the calibration frames and an even further improved image reconstruction quality. In total, the third data release contains 1576 datacubes, including ~1.5 million independent spectra.
Rodríguez-Otero et al aimed to study the vaccine reaction patterns of health care workers (HCWs) who were referred to the allergy department of our hospital in order to validate a protocol to ...identify and stratify the individual risk so that patients could receive another dose or an alternative agent. They evaluated the tolerance of all HCWs who experienced an adverse effect. They found the incidence of reaction to be higher when different mRNA vaccines were administered in a single individual. Although this difference was not statistically significant, it could be useful to propose the use of a single vaccine type in patients with previous reactions to mRNA vaccine. Studies with larger samples are necessary.
Resolving galaxies in time and space Fernandes, R Cid; Delgado, R M Gonzalez; Benito, R Garcia ...
Astronomy and astrophysics (Berlin),
1/2014, Letnik:
561
Journal Article
Recenzirano
Odprti dostop
In a companion paper we have presented many products derived from the application of the spectral synthesis code STARLIGHT to datacubes from the CALIFA survey, including 2D maps of stellar population ...properties and 1D averages in the temporal and spatial dimensions. Our goal here is to assess the uncertainties in these products. Uncertainties associated to noise and spectral shape calibration errors in the data and to the synthesis method were investigated by means of a suite of simulations, perturbing spectra and processing them through our analysis pipelines. The simulations used 1638 CALIFA spectra for NGC 2916, with perturbation amplitudes gauged in terms of the expected errors. Noise and shape-related errors at the level expected for C ALIFA propagate to uncertainties of 0.10-0.15 dex in stellar masses, mean ages, and metallicities. Spectral residuals are of the order of 1% on average, but with systematic features of up to 4% amplitude. We discuss the origin of these features, most of which are present in both in C ALIFA and SDSS spectra.
Despite the rapidly increasing number of patients suffering from type 2 diabetes, Alzheimer’s disease, and diabetes-induced dementia, there are no disease-modifying therapies that are able to prevent ...or block disease progress. In this work, we investigate the potential of nature-inspired glucosylpolyphenols against relevant targets, including islet amyloid polypeptide, glucosidases, and cholinesterases. Moreover, with the premise of Fyn kinase as a paradigm-shifting target in Alzheimer’s drug discovery, we explore glucosylpolyphenols as blockers of Aβ-induced Fyn kinase activation while looking into downstream effects leading to Tau hyperphosphorylation. Several compounds inhibit Aβ-induced Fyn kinase activation and decrease pTau levels at 10 μM concentration, particularly the per-O-methylated glucosylacetophloroglucinol and the 4-glucosylcatechol dibenzoate, the latter inhibiting also butyrylcholinesterase and β-glucosidase. Both compounds are nontoxic with ideal pharmacokinetic properties for further development. This work ultimately highlights the multitarget nature, fine structural tuning capacity, and valuable therapeutic significance of glucosylpolyphenols in the context of these metabolic and neurodegenerative disorders.
We present a technique that permits the analysis of stellar population gradients in a relatively low-cost way compared to integral field unit (IFU) surveys. We developed a technique to analyze ...unresolved stellar populations of spatially resolved galaxies based on photometric multi-filter surveys. This technique allows the analysis of vastly larger samples and out to larger galactic radii. We derived spatially resolved stellar population properties and radial gradients by applying a centroidal Voronoi tessellation and performing a multicolor photometry spectral energy distribution fitting. This technique has been successfully applied to a sample of 29 massive (M⋆ > 1010.5M⊙) early-type galaxies at z < 0.3 from the ALHAMBRA survey. We produced detailed 2D maps of stellar population properties (age, metallicity, and extinction), which allow us to identify galactic features. Radial structures were studied, and luminosity-weighted and mass-weighted gradients were derived out to 2–3.5 Reff. We find that the spatially resolved stellar population mass, age, and metallicity are well represented by their integrated values. We find the gradients of early-type galaxies to be on average flat in age (∇log AgeL = 0.02 ± 0.06 dex/Reff) and negative in metallicity (∇Fe/HL = −0.09 ± 0.06 dex/Reff). Overall,the extinction gradients are flat (∇Av = −0.03 ± 0.09 mag/Reff ) with a wide spread. These results are in agreement with previous studies that used standard long-slit spectroscopy, and with the most recent IFU studies. According to recent simulations, these results are consistent with a scenario where early-type galaxies were formed through major mergers and where their final gradients are driven by the older ages and higher metallicity of the accreted systems. We demonstrate the scientific potential of multi-filter photometry to explore the spatially resolved stellar populations of local galaxies and confirm previous spectroscopic trends from a complementary technique.
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