Genetic profile in genes associated with muscle injuries and injury etiology in professional soccer players.

post-print1255 K

Prospective individual patient data meta-analysis of two randomized trials on convalescent plasma for COVID-19 outpatients

Data on convalescent plasma (CP) treatment in COVID-19 outpatients are scarce. We aimed to assess whether CP administered during the first week of symptoms reduced the disease progression or risk of hospitalization of outpatients. Two multicenter, double-blind randomized trials (NCT04621123, NCT04589949) were merged with data pooling starting when = 50 years and symptomatic for <= 7days were included. The intervention consisted of 200-300mL of CP with a predefined minimum level of antibodies. Primary endpoints were a 5-point disease severity scale and a composite of hospitalization or death by 28 days. Amongst the 797 patients included, 390 received CP and 392 placebo; they had a median age of 58 years, 1 comorbidity, 5 days symptoms and 93% had negative IgG antibody-test. Seventy-four patients were hospitalized, 6 required mechanical ventilation and 3 died. The odds ratio (OR) of CP for improved disease severity scale was 0.936 (credible interval (CI) 0.667-1.311); OR for hospitalization or death was 0.919 (CI 0.592-1.416). CP effect on hospital admission or death was largest in patients with <= 5 days of symptoms (OR 0.658, 95%CI 0.394-1.085). CP did not decrease the time to full symptom resolution

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

With flowers to La Atkins

Photobook, Flowers, Gardens, Vegetables, Plants, World Photobook Day, International Photobook Day, 2021Anna Atkins nos regaló un fotolibro de algas, maravillosamente azules, que son como flores del mundo subacuático. Este año, para celebrar el Día Internacional del Fotolibro 2021, os proponemos hacer un fotolibro colectivo que será como un ramo de flores para Anna. Se trata de hacer fotos a flores, hierbas, plantas, hierbajos, suculentas, cactus... Las fotos nos van a permitir poner en el ramo lo que más nos guste sin preocuparnos de los problemas que nos daría una pieza floral fresca. Podéis sacar la foto a una flor o planta viva, vuestra o de un jardín público o del campo Podéis fotografiar algo de un herbario o una flor prensada que guardabais dentro de un libro Podéis fotografiar una foto de una flor Podéis sacarle una foto a una flor de plástico Podéis fotografiar un dibujo o una pintura (con motivos florales o vegetales, claro) Podéis fotografiar una planta carnívora (en ayunas o haciendo la digestión) Podéis fotografiar flores del mal o del "buenri" Siempre que sea vegetal y/o floral entrará en este libro ramo para Anna. ¡Queremos tanto a Anna! Vamos a mandarle flores como para una boda, como para un fiestón, como para una diva de la ópera que no conoce las alergias y le cabe de todo en el camerino, como para la primavera que está comenzando en el Cono Sur. Organizan: Biblioteca de la Facultad de Bellas Artes de la UCM Photobook Club MadridFac. de Bellas Artesunpu

Lifehub: fostering collaborations and scientific literacy in microbiology education and outreach

Trabajo presentado en el XXIX Congreso Sociedad Española de Microbiología, celebrado en Burgos (España) del 25 al 28 de junio de 2023.LifeHUB.CSIC, also known as Conexión-Vida, is a dynamic network of researchers from diverse disciplines within the CSIC, dedicated to facilitating collaborations that would otherwise be unlikely to occur. With a versatile approach, LifeHUB focuses on the theme of Life, exploring its origin, evolution, diversity, and synthesis in the laboratory. Microbiology plays a key role in this theme encompassing the study of microbial life and its interactions with other organisms and the environment, from the very beginning of life to its current state at the forefront of biotechnology. To engage the community and attract talent to the field of microbiology, LIFEHUB has developed a comprehensive range of creative outreach activities, including workshops, summer schools, public lectures, videos, and an official master's degree program which offers a rigorous academic curriculum that covers diverse topics related to microbiology. These initiatives offer hands-on experience with cutting-edge techniques, while promoting interest in microbiology among students and the general public. Through our diverse outreach activities, LIFEHUB has successfully increased public awareness and interest in microbiology, inspiring a new generation of learners to pursue careers in this exciting field. Our ultimate goal is to inspire a new generation of scientists and innovators who can contribute to the advancement of microbiology and related fields, promoting scientific literacy, diversity, and excellence. By leveraging the power of microbiology education and outreach, LIFEHUB aims to create a better future for all.Peer reviewe

Familial porphyria cutanea tarda in Spain: Characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation

2.082 JCR (2013) Q3, 106/164 Genetics & heredit

Recommendations to report and interpret HLA genetic findings in coeliac disease

[ES]: La enfermedad celíaca (EC) es una enteropatía crónica de carácter autoinmune causada por el gluten y prolaminas relacionadas que tiene lugar en individuos genéticamente susceptibles. Aunque es una enfermedad poligénica, destaca la fuerte asociación con genes localizados en la región HLA (human leukocyte antigen). La gran mayoría de los pacientes celíacos presentan el heterodímero HLA-DQ2, en concreto, la variante o isoforma conocida como DQ2.5, que en afectados de ascendencia europea se estima presente en el 90-96%.[EN]: Coeliac disease (CD) is a chronic autoimmune enteropathy triggered by gluten and related prolamines in genetically predisposed individuals. Although CD is a polygenic disease, there is a strong association with genes of the human leukocyte antigen (HLA) region. Most patients present the HLA-DQ2 heterodimer, specifically the DQ2.5 isoform, which is present in around 90-96% of patients of European ancestry.Peer reviewe

Prevalence of genetic Diamine Oxidase (DAO) deficiency in female patients with fibromyalgia in Spain

Diamine oxidase (DAO) is an enzyme that metabolizes intestinal histamine. Single nucleotide polymorphisms (SNPs) of the Amine Oxidase Copper Containing 1 (AOC1) gene can lead to low enzymatic activity or functionality in histamine metabolism. This study aimed to determine the prevalence of DAO deficiency for four variants of the AOC1 gene, p.Thr16Met (rs10156191), p.Ser332Phe (rs1049742), p.His664Asp (rs1049793), and c.691G > T (rs2052129), in 98 Spanish women with fibromyalgia between the ages of 33 and 60 years, and compare the distribution of allelic and genotypic frequencies with those of European population samples in Hardy–Weinberg equilibrium extracted from the Allele Frequency Aggregator (ALFA) database. The patients’ DNA was extracted, and analyzed using SNPE Multiplex (Single Nucleotide Primer Extension). The prevalence of genetic DAO deficiency was 74.5% based on the four variants of the AOC1 gene. SNP deficits were found at frequencies of 53.1% for p.Thr16Met, 49% for c.691G > T, 48% for p.His664Asp, and 19.4% for p.Ser332Phe. The allele and genotypic frequencies of the women with fibromyalgia did not differ from the European population. Variants of the AOC1 gene that are associated with genetic DAO deficiency could serve as a disruptive biomarker in patients with fibromyalgia. This study was registered in ClinicalTrials.gov Identifier: NCT05389761.Depto. de Genética, Fisiología y MicrobiologíaFac. de Ciencias BiológicasTRUEpu