34 research outputs found
Comparison of five strategies for seasonal prediction of bioclimatic indicators in the olive sector
This paper assesses the forecast quality of five seasonal forecasting strategies applied to different bioclimatic indicators tailored to the olive sector. In total, five indicators have been selected considering their importance in the management of the olive orchard. As time progresses through the indicator target period, the impact of the increasing share of actual observations included in its computation has been evaluated by examining the variabilities of correlation coefficients and fair rank probability skill scores for each initialization date. The results show that blending either seasonal predictions or climatology with observations enhanced the capability of forecasting the tercile category for all the indicators when compared to the use of climatology or seasonal predictions alone. In fact, for Spring Maximum Temperature and Growing Season Temperature indicators, the combination of observations and SEAS5 predictions could outperform the other methods for most of the start months. As for those threshold-defined indicators, namely Spring Heat Days and Summer Heat Stress Days, the end-users are highly encouraged to use climatology in the first month and combine it with observations as soon as the latter becomes available.Thanks to all the partners of the project MED-GOLD (Turning climate-related information into added value for traditional MEDiterranean Grape, Olive and Durum Wheat food systems, agreement no. 776467) and the project ASPECT (HE-101081460) both funded by the European Union. Thanks to Dcoop as the end-user for providing feedback in the co-development process. The results contain modified Copernicus Climate Change Service information. Neither the European Commission nor ECMWF is responsible for any use that may be made of the Copernicus information or data it contains. One of the coauthors, Raül Marcos-Matamoros, is a Serra Húnter Fellow. Finally, we thank the reviewers, whose comments helped improve the paper substantially.Peer ReviewedPostprint (published version
Acquired and Innate Immunity Impairment and Severe Disseminated Mycobacterium genavense Infection in a Patient With a NF-κB1 Deficiency
Background: NF-κB1 is a master regulator of both acquired and innate responses. NFKB1 loss-of-function mutations elicit a wide clinical phenotype with asymptomatic individuals at one end of the spectrum and patients with common variable immunodeficiency, combined immunodeficiency or autoinflammation at the other. Impairment of acquired and innate immunity and disseminated Mycobacterium genavense infection expands the clinical and immunological phenotype of NF-κB1 deficiency.Objective: Functional and molecular characterization of a patient with a novel phenotype of NF-κB1 deficiency.Methods: Circulating T, B, dendritic cell subsets and innate or unconventional T-cells were quantified. The cytokine production in stimulated whole blood samples was assessed and molecular characterization by next generation sequencing and gene expression assays were also performed.Results: We report a patient presenting with features of combined immunodeficiency (CID) and disseminated Mycobacterium genavense infection. Sequencing of genomic DNA identified a novel synonymous mutation (c.705G > A) in NFKB1 gene which resulted in exon 8 skipping and haploinsufficiency of the NF-κB1 subunit p50. The susceptibility to atypical mycobacterial infection has not been previously reported and may be the result of a dendritic cell deficiency. A selective deficiency of circulating follicular helper T (cTFH) cells responsible for mediating the differentiation of naive B cells into memory and plasma cells was also present in the patient. It could affect the maturation of innate or unconventional T cells where NF-κB1 could also be involved.Conclusion: These findings showed that the role of NF-κB1 in humans could be critical for the development of acquired and innate immunity and further highlights the role of human T cells in anti-mycobacterial immunity
Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense NHEJ1 Homozygous Mutation
Cernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we describe two unrelated cases with the same non-sense mutation in the NHEJ1 gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect
Club sobre corrupción e integridad (II): el uso de material audiovisual como estrategia de innovación y mejora docente en estudios sobre corrupción, integridad y gobernanza global
Memoria ID2022-103. Ayudas de la Universidad de Salamanca para la innovación docente, curso 2022-2023
Novel genes and sex differences in COVID-19 severity
[EN] Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.S
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2
The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality
Famílies botàniques de plantes medicinals
Facultat de Farmàcia, Universitat de Barcelona. Ensenyament: Grau de Farmàcia, Assignatura: Botànica Farmacèutica, Curs: 2013-2014, Coordinadors: Joan Simon, Cèsar Blanché i
Maria Bosch.Els materials que aquí es presenten són els recull de 175 treballs d’una família botànica d’interès medicinal realitzats de manera individual. Els treballs han estat realitzat
per la totalitat dels estudiants dels grups M-2 i M-3 de l’assignatura Botànica Farmacèutica
durant els mesos d’abril i maig del curs 2013-14. Tots els treballs s’han dut a terme a través de la plataforma de GoogleDocs i han estat tutoritzats pel professor de l’assignatura i revisats i finalment co-avaluats entre els propis estudiants. L’objectiu principal de l’activitat ha estat fomentar l’aprenentatge autònom i col·laboratiu en Botànica farmacèutica
CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative
Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research
Porosity of resin cements and resin-modified glass-ionomers
Purpose: to quantify the internal free surface in various resin cements and glass-ionomer-based materials.
Materials and methods: materials tested were Nexus fluid (NXF) and vicous (NXV), Vitremer (VTM), Fuji II LC (FII), Vitremer Luting Cement (VLC), Dyract (DYR) and Compoglass (COM). Samples (n=5)
were made of each material between two microscopic glass slides under same weight. With a transmitted light microscopy, four zones of each sample were evaluated, finding the number of porosities per mm² (NP), the average radius of porosities (RP), the ratio of total area of surface porosities (µ²) to area (mm²) of specimen surface (TA) and the ratio of total volume of porosities (µ²) to area (mm²) of material surface (VP).
Results: median test was used. NP: NXV, NXF and DYR had smaller than VTM and FII ans (likely) than VLC (P<0.0000001) RP was smaller for DYR than for VLC and (likely) than for NXV (P=0.00019). TA: NXV, NXF and DYR had smaller TA than VTM, FII and VLC (P<0.0000001). VP: NXV and DYR had smaller VP than FII and (likely) than VTM and VLC (P<0.0000001)