The object in dust jackets by Daniel Gil: artistic influence on the conceptualization of the graphic image in his book covers

Reseña de tesis doctora

Interdisciplinary Tutoring for the Development of Professional-Simulation Role-Plays

Current society is characterised by a growing tendency of interrelationship among different professional sectors in order to offer their potential customers a better quality of certain products or process. Thereby, and in the context of this interdisciplinarity, higher-education teachers must frame their teaching methodologies mainly focused on the acquisition of certain competences so that students could guarantee the development of their professional abilities. Taking this as a premise, we have performed an interdisciplinary role-play so as to allow our students to acquire those professional competences. However, to carry out this performance a well-organised tutorial plan, divided into several tutoring sessions, was required to succeed in the use of this active methodology

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

Clinical exome (CE) sequencing has become a first-tier diagnostic test for hereditary diseases; however, its diagnostic rate is around 30–50%. In this study, we aimed to increase the diagnostic yield of CE using a custom reanalysis algorithm. Sequencing data were available for three cohorts using two commercial protocols applied as part of the diagnostic process. Using these cohorts, we compared the performance of general and clinically relevant variant calling and the efficacy of an in-house bioinformatic protocol (FJD-pipeline) in detecting causal variants as compared to commercial protocols. On the whole, the FJD-pipeline detected 99.74% of the causal variants identified by the commercial protocol in previously solved cases. In the unsolved cases, FJD-pipeline detects more INDELs and non-exonic variants, and is able to increase the diagnostic yield in 2.5% and 3.2% in the re-analysis of 78 cancer and 62 cardiovascular cases. These results were considered to design a reanalysis, filtering and prioritization algorithm that was tested by reassessing 68 inconclusive cases of monoallelic autosomal recessive retinal dystrophies increasing the diagnosis by 4.4%. In conclusion, a guided NGS reanalysis of unsolved cases increases the diagnostic yield in genetic disorders, making it a useful diagnostic tool in medical geneticsWe want to thank the participants for consenting to the use of their data for the study. We would like to thank all technical staff in the genetics service of the Fundación Jiménez Díaz University Hospital for conducting the sequencing and segregation analysis. We also thank Oliver Shaw (IIS-FJD) for editorial assistance. This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425, PI19/00321, PI18/00579 and PI20/00851), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), Ramón Areces Foundation (4019/012), Conchita Rábago Foundation, and the University Chair UAM-IIS-FJD of Genomic Medicine. R.R. is supported by a postdoctoral fellowship of the Comunidad de Madrid (2019-T2/BMD-13714), L.d.l.F. is supported by the platform technician contract of ISCIII (CA18/00017), IPR is supported by a PhD studentship from the predoctoral program from ISCIII (FI17/ 00192), I.F.I. is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017- AI/BMD7256), G.N.M. is supported by a grant from the Comunidad de Madrid (PEJ2020-AI/BMD-18610), A.D. is supported by a PhD studentship from the predoctoral program from ISCIII (FI18/00123), B.A. is supported by a Juan Rodes program from ISCIII (JR17/00020), C.R. is supported by a PhD studentship from the Conchita Rabago Foundation and PM and MC are supported by a Miguel Servet program contract from ISCIII (CP16/00116 and CPII17/00006, respectively). The funders played no role in study design, data collection, data analysis, manuscript preparation, and/or publication decision

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group.Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006)

Probing the earliest phases in the formation of massive galaxies with simulated HST+JWST imaging data from Illustris

We use the Illustris-1 simulation to explore the capabilities of the $\textit{Hubble}$ and $\textit{James Webb Space Telescope}$ data to analyze the stellar populations in high-redshift galaxies, taking advantage of the combined depth, spatial resolution, and wavelength coverage. For that purpose, we use simulated broad-band ACS, WFC3 and NIRCam data and 2-dimensional stellar population synthesis (2D-SPS) to derive the integrated star formation history (SFH) of massive (M$_{\ast}>10^{10}\,$M$_{\odot}$) simulated galaxies at $110^{11}\,$M$_{\odot}$ galaxy. In particular, we explore the potential of HST and JWST datasets reaching a depth similar to those of the CANDELS and ongoing CEERS observations, respectively, and concentrate on determining the capabilities of this dataset for characterizing the first episodes in the SFH of local M$_{\ast}>10^{11}\,$M$_{\odot}$ galaxies by studying their progenitors at $z>1$. The 2D-SPS method presented in this paper has been calibrated to robustly recover the cosmic times when the first star formation episodes occurred in massive galaxies, i.e., the first stages in their integrated SFHs. In particular, we discuss the times when the first 1% to 50% of their total stellar mass formed in the simulation. We demonstrate that we can recover these ages with typical median systematic offset of less than 5% and scatter around 20%-30%. According to our measurements on Illustris data, we are able to recover that local M$_{\ast}>10^{11}\,$M$_{\odot}$ galaxies would have started their formation by $z=16$, forming the first 5% of their stellar mass present at $z \sim 1$ by $z=4.5$, 10% by $z=3.7$, and 25% by $z=2.7$.Comment: 28 pages, 13 figures, 4 tables. ApJ in press. Summary of changes from original submission: the major change is that we now include in Sec. 6 the comparison of the results obtained for our sample of massive 1 < z < 4 progenitors with those obtained by considering all massive galaxies at 1 < z < 4 in the simulated images. Several figures and sections have been update

Life beyond 30: Probing the −20 < M UV < −17 Luminosity Function at 8 < z < 13 with the NIRCam Parallel Field of the MIRI Deep Survey

We present the ultraviolet luminosity function and an estimate of the cosmic star formation rate density at 8 8 galaxy candidates based on their dropout nature in the F115W and/or F150W filters, a high probability for their photometric redshifts, estimated with three different codes, being at z > 8, good fits based on χ2 calculations, and predominant solutions compared to z < 8 alternatives. We find mild evolution in the luminosity function from z ∼ 13 to z ∼ 8, i.e., only a small increase in the average number density of ∼0.2 dex, while the faint-end slope and absolute magnitude of the knee remain approximately constant, with values α = − 2.2 ± 0.1, and M* = − 20.8 ± 0.2 mag. Comparing our results with the predictions of state-of-the-art galaxy evolution models, we find two main results: (1) a slower increase with time in the cosmic star formation rate density compared to a steeper rise predicted by models; (2) nearly a factor of 10 higher star formation activity concentrated in scales around 2 kpc in galaxies with stellar masses ∼108M⊙ during the first 350 Myr of the universe, z ∼ 12, with models matching better the luminosity density observational estimations ∼150 Myr later, by z ∼ 9

Adapting Agriculture to Climate Change: A Synopsis of Coordinated National Crop Wild Relative Seed Collecting Programs across Five Continents

The Adapting Agriculture to Climate Change Project set out to improve the diversity, quantity, and accessibility of germplasm collections of crop wild relatives (CWR). Between 2013 and 2018, partners in 25 countries, heirs to the globetrotting legacy of Nikolai Vavilov, undertook seed collecting expeditions targeting CWR of 28 crops of global significance for agriculture. Here, we describe the implementation of the 25 national collecting programs and present the key results. A total of 4587 unique seed samples from at least 355 CWR taxa were collected, conserved ex situ, safety duplicated in national and international genebanks, and made available through the Multilateral System (MLS) of the International Treaty on Plant Genetic Resources for Food and Agriculture (Plant Treaty). Collections of CWR were made for all 28 targeted crops. Potato and eggplant were the most collected genepools, although the greatest number of primary genepool collections were made for rice. Overall, alfalfa, Bambara groundnut, grass pea and wheat were the genepools for which targets were best achieved. Several of the newly collected samples have already been used in pre-breeding programs to adapt crops to future challenges.info:eu-repo/semantics/publishedVersio

Los ojos de Daniel Gil: la cubierta del libro un espacio preferente para el diseñador

In the practice of editorial design, book cover represents the viewer's first visual contact with the product. Hence, in its creation process it is given space and time to determine the formal and aesthetic aspects that will determine its character. In some cases this character will be purely functional while in others it will have more subjective characteristics. This will depend on the designer's own stance towards the concept of design. From our point of view, we understand that such responsibility entails understanding design as a creative project that integrates creative freedom and the functionality of the objective itself, bearing in mind as a maxim the involvement of design in social and cultural communication.En la práctica del diseño editorial la cubierta del libro representa el primer contacto visual del espectador con el producto. De ahí que en su proceso de creación se le conceda espacio y tiempo a la hora de determinar los aspectos formales y estéticos que determinarán su carácter. En algunos casos este carácter será puramente funcional mientras que en otros presentará características más subjetivas. Ello dependerá de la postura del propio diseñador frente al concepto de diseño.Desde nuestro punto de vista entendemos que tal responsabilidad conlleva entender el diseño como proyecto creativo que integra la libertad creadora y la funcionalidad del propio objetivo, teniendo presente como máxima la implicación del diseño en la comunicación social y cultural

Competencia lingüística y dominio preconceptual: trabajando mapas conceptuales en Educación Infantil

Presentamos un trabajo en el cual se ha estudiado si los mapas preconceptuales, utilizados como estrategia didáctica en un aula infantil, contribuyen a mejorar el discurso oral que emplea el alumnado en la interpretación o lectura de los mismos. Nos interesa indagar qué tipo de evolución se produce en tres dimensiones básicas del lenguaje: el vocabulario, la sintaxis y la amplitud del discurso. Intentamos inferir si la hipotética mejoría en el discurso oral del alumnado tiene repercusiones en la evolución de su competencia preconceptual. Enmarcamos nuestro trabajo didáctico en la teoría de la asimilación (Ausubel, Novak y Hanesian, 1983) como el marco conceptual genérico que nos ofrece un modelo de aprendizaje idóneo para realizar el seguimiento cognitivo que estábamos buscando, al afirmar que, en algún punto entre el cuarto y el quinto año de vida, el lenguaje asume un papel predominante en el funcionamiento cognoscitivo (Ausubel et al., 1983, p. 82). Intervienen en esta investigación 20 preescolares (12 niñas y 8 niños) de un aula de Educación Infantil, del nivel de 5 años, perteneciente a un colegio público situado en un contexto rural, concretamente ubicado en la provincia de Sevilla. Analizamos 93 textos, que se corresponden con las producciones orales de los participantes en la investigación, siguiendo un sistema categorial creado a partir del análisis de los datos y practicando un sistema de triangulación basado en un acuerdo de tres jueces (maestra, experto e investigadora) para garantizar la consistencia de las clasificaciones. Como conclusión, y con la prudencia necesaria debido a la escasez de participantes y al limitado número de sesiones analizadas, podemos manifestar que se aprecia una mejoría moderada en el discurso oral que el alumnado emplea para «leer» sus mapas, y, por consiguiente, podemos entenderlos como una estrategia didáctica apropiada para ser utilizada en Educación Infantil