10 research outputs found

    Fracturas epifisiolisis graves de la extremidad proximal del radio: resultado tras tratamiento quirúrgico

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    La fractura-epifisiolisis del cuello radial es una lesión grave que puede originar alteracione s en e l crecimiento epifisario. Presentamo s una seri e de 22 casos revisados con una antigüedad mínima de dos años. Fueron intervenidos 14 pacientes, de los que 10 estaban incluidos en el grupo III o en lesione s de Jeffery. Once enfermos fueron tratado s con cirugí a abierta. Cuando l a intervenció n consisti ó en reducció n abierta y osteosíntesis, los resultados clínicos fueron buenos en el 50%, pero cuando só- lo se practicó reducción cruenta sin asociar sistema estabilizador metálico, éstos llegaron al 100%. En cinco de los ocho paciente s del primer grupo se presentaron calcificacione s articulares y en dos, epifisiodesis. En el segundo grupo no aparecieron ninguna de éstas alteraciones. Creemos que en los casos de fracturas epifisiolisis del cuello radial en niños con gran desplazamiento, el tratamiento ideal es la cuidadosa reducción cruenta evitando fijación con aguja.The fracture epiphysiolysis of radial neck is a grave lesion which may induc e epiphysea l grown disturbances. A review of 22 case s suffering such fracture s was carried out with a mean follow-up of 2 years. Of the total, 14 cases wer e treated by surgery, 10 of thes e showing either type III or Jeffery's fractures. Eleven patients reequired open reduction. In 50% of the cases treated by open reduction and internal fixation, the clinical results wer e satisfactory. When internal fixation was not used, the satisfactory results reached 100%. Five of the 8 cases of the firt groups developed periarticular ossifications and 2 othe r showed epiphyseal closening. Thes e type of complications wer e not seen in the second group. For epiphysiolysis of the radial neck with sever e displacement. The ideal treatment seems to be a careful open reduction avoiding internal fixation

    Integrated GWAS and Gene Expression Suggest ORM1 as a Potential Regulator of Plasma Levels of Cell-Free DNA and Thrombosis Risk

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    Plasma cell-free DNA (cfDNA) is a surrogate marker of neutrophil extracellular traps (NETs) that contribute to immunothrombosis. There is growing interest about the mechanisms underlying NET formation and elevated cfDNA, but little is known about the factors involved. We aimed to identify genes involved in the regulation of cfDNA levels using data from the Genetic Analysis of Idiopathic Thrombophilia (GAIT-2) Project. Imputed genotypes, whole blood RNA-Seq data, and plasma cfDNA quantification were available for 935 of the GAIT-2 participants from 35 families with idiopathic thrombophilia. We performed heritability and GWAS analysis for cfDNA. The heritability of cfDNA was 0.26 ( p  = 3.7 × 10 (−6) ), while the GWAS identified a significant association (rs1687391, p  = 3.55 × 10 (−10) ) near the ORM1 gene, on chromosome 9. An eQTL (expression quantitative trait loci) analysis revealed a significant association between the lead GWAS variant and the expression of ORM1 in whole blood ( p  = 6.14 × 10 (−9) ). Additionally, ORM1 expression correlated with levels of cfDNA ( p  = 4.38 × 10 (−4) ). Finally, genetic correlation analysis between cfDNA and thrombosis identified a suggestive association ( ρ (g)  = 0.43, p  = 0.089). All in all, we show evidence of the role of ORM1 in regulating cfDNA levels in plasma, which might contribute to the susceptibility to thrombosis through mechanisms of immunothrombosis

    Spread of a SARS-CoV-2 variant through Europe in the summer of 2020.

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    Following its emergence in late 2019, the spread of SARS-CoV-21,2 has been tracked by phylogenetic analysis of viral genome sequences in unprecedented detail3–5. Although the virus spread globally in early 2020 before borders closed, intercontinental travel has since been greatly reduced. However, travel within Europe resumed in the summer of 2020. Here we report on a SARS-CoV-2 variant, 20E (EU1), that was identified in Spain in early summer 2020 and subsequently spread across Europe. We find no evidence that this variant has increased transmissibility, but instead demonstrate how rising incidence in Spain, resumption of travel, and lack of effective screening and containment may explain the variant’s success. Despite travel restrictions, we estimate that 20E (EU1) was introduced hundreds of times to European countries by summertime travellers, which is likely to have undermined local efforts to minimize infection with SARS-CoV-2. Our results illustrate how a variant can rapidly become dominant even in the absence of a substantial transmission advantage in favourable epidemiological settings. Genomic surveillance is critical for understanding how travel can affect transmission of SARS-CoV-2, and thus for informing future containment strategies as travel resumes. © 2021, The Author(s), under exclusive licence to Springer Nature Limited

    Characterization of the autoimmune response against the nerve tissue S100β in patients with type 1 diabetes

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    Type 1 diabetes results from destruction of insulin-producing beta cells in pancreatic islets and is characterized by islet cell autoimmunity. Autoreactivity against non-beta cell-specific antigens has also been reported, including targeting of the calcium-binding protein S100β. In preclinical models, reactivity of this type is a key component of the early development of insulitis. To examine the nature of this response in type 1 diabetes, we identified naturally processed and presented peptide epitopes derived from S100β, determined their affinity for the human leucocyte antigen (HLA)-DRB1*04:01 molecule and studied T cell responses in patients, together with healthy donors. We found that S100β reactivity, characterized by interferon (IFN)-γ secretion, is a characteristic of type 1 diabetes of varying duration. Our results confirm S100β as a target of the cellular autoimmune response in type 1 diabetes with the identification of new peptide epitopes targeted during the development of the disease, and support the preclinical findings that autoreactivity against non-beta cell-specific autoantigens may have a role in type 1 diabetes pathogenesis

    Density-dependent regulation of population size in colonial breeders: Allee and buffer effects in the migratory Montagu's harrier.

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    Expanding populations offer an opportunity to uncover the processes driving spatial variation in distribution and abundance. Individual settlement decisions will be influenced by the availability and relative quality of patches, and by how these respond to changes in conspecific density. For example, conspecific presence can alter patch suitability through reductions in resource availability or territorial exclusion, leading to buffer effect patterns of disproportionate population expansion into poorer quality areas. However, conspecific presence can also enhance patch suitability through Allee effect processes, such as transmission of information about resources or improved predator detection and deterrence. Here, we explore the factors underlying the settlement pattern of a growing population of Montagu’s harriers (Circus pygargus) in Spain. The population increased exponentially between 1981 and 2001, but stabilised between 2001 and 2004. This population increase occurred alongside a remarkable spatial expansion, with novel site use occurring prior to maximum densities in occupied sites being reached. However, no temporal trends in fecundity were observed and, within sites, average fecundity did not decline with increasing density. Across the population, variance in productivity did increase with population size, suggesting a complex pattern of density-dependent costs and benefits. We suggest that both Allee and buffer effects are operating in this system, with the benefits of conspecific presence counteracting density-dependent declines in resource availability or quality.Fundación Terra Natura; Aeropuerto de Castelló
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