Should we use the men load–velocity profile for women in deadlift and hip thrust?

Injuries are common in team sports and can impact both team and individual performance. In particular, hamstring strain injuries are some of the most common injuries. Furthermore, hamstring injury ratios, in number of injuries and total absence days, have doubled in the last 21 seasons in professional soccer. Weakness in hip extensor strength has been identified as a risk factor in elite-level sprinters. In addition, strength imbalances of the hamstring muscle group seem to be a common cause of hamstring strain injuries. In this regard, velocity-based training has been proposed to analyze deficits in the force–velocity profile. Previous studies have shown differences between men and women, since there are biomechanical and neuromuscular differences in the lower limbs between sexes. Therefore, the aim of this study was to compare the load–velocity profile between males and females during two of the most important hip extension exercises: the hip thrust and the deadlift. Sixteen men and sixteen women were measured in an incremental loading test following standard procedures for the hip thrust and deadlift exercises. Pearson’s correlation (r) was used to measure the strength of the correlation between movement velocity and load (%1RM). The differences in the load–velocity relationship between the men and the women were assessed using a 2 (sex) × 15 (load) repeated-measures ANOVA. The main findings revealed that: (I) the load–velocity relationship was always strong and linear in both exercises (R2 range: 0.88–0.94), (II) men showed higher velocities for light loads (30–50%1RM; effect size: 0.9–0.96) than women for the deadlift, but no significant differences were found for the hip thrust. Based on the results of this study, the load–velocity equations seem to be sex-specific. Therefore, we suggest that using sex-specific equations to analyze deficits in the force–velocity profile would be more effective to control intensity in the deadlift exercis

Proposta técnica para incorporar a saúde nos procedimentos de avaliação de impacto ambiental de políticas, planos, programas, projetos e atividades

Health was an element of general licensing procedures until Spain joined the EU in 1986, when the health report became diluted. The purpose of this article is to provide an overview of this topic’s current regulatory framework and to try to briefly describe health priorities and the channels for feasibly integrating the health variable in the environmental assessment of plans, programmes and projects from the public and private sectors. The current existence of the Environmental Assessment Act and the Public Health Act may help to achieve this.When preparing a strategic environmental study and an environmental impact study, the health impact assessment should be considered an essential step in these environmental procedures and have the same legal treatment as the “compulsory and determinant reports” of said procedures.Thus, it is concluded that the regulatory development of the aspects relating to the assessment of the health impact of the plans, programmes and projects envisaged in the Environmental Assessment Act is essential, the health impact assessment being the tool for doing so.La salud es un componente que ha estado presente en los procedimientos de tramitación administrativa de licencias, de forma general, hasta que España entró en la Unión Europea, en el año 1986, cuando el informe sanitario quedó diluido. El objetivo de este artículo es el de dar una visión general del marco normativo actual del tema de referencia y tratar de describir, brevemente, las prioridades sanitarias y los cauces para hacer viable la integración de la variable salud, en el proceso de la evaluación ambiental de planes, programas y proyectos públicos y privados. La existencia actual de dos leyes, una de Evaluación Ambiental y otra de Salud Pública, puede ayudar a este objetivo.En la elaboración del estudio ambiental estratégico y del estudio de impacto ambiental, la evaluación del impacto en salud debería ser considerada como un trámite esencial de estos procedimientos medioambientales y tener el tratamiento jurídico que tienen “los informes preceptivos y determinantes” de dichos procedimientos.Así pues, se concluye que es indispensable desarrollar normativamente los aspectos relativos a la evaluación de impacto en salud de planes, programas y proyectos contemplados en la ley de evaluación ambiental, utilizando la evaluación del impacto en salud como llave para hacerlo.A saúde foi, de forma generalizada, um componente presente nos procedimentos administrativos para a emissão de alvarás de licenciamento, até à adesão de Espanha à União Europeia, no ano de 1986, altura em que a obrigatoriedade do parecer sanitário se foi esbatendo.O objetivo deste artigo é fornecer uma visão global da situação normativa sobre esta temática e tentar descrever, sucintamente, as prioridades do setor da saúde e as possíveis vias para a realização de uma integração da variável saúde nos processos de avaliação ambiental de planos, programas e outras atividades, quer do setor público quer do setor privado. A atual existência de duas leis, uma de Impacto ambiental e outra de Saúde Pública, pode ajudar à concretização deste objetivo.Na elaboração de avaliação ambiental estratégica e de avaliação de impacto ambiental, a avaliação do impacto na saúde deveria ser considerada como um componente essencial destes procedimentos ambientais e ter o tratamento jurídico que têm “os pareceres prescritivos e determinantes” dos referidos procedimentos.Assim, conclui-se ser indispensável desenvolver normativamente os aspetos relativos à avaliação do impacto na saúde dos planos, programas e projetos contemplados na legislação de impacto ambiental, utilizando a avaliação de impacto na saúde como o elemento chave para o fazer

Subconjunctival injection of mesenchymal stromal cells protects the cornea in an experimental model of GVHD

Purpose: To evaluate the therapeutic effect of subconjunctival injection of human mesenchymal stromal cells (hMSCs) in the cornea of mice with graft versus host disease (GVHD). Methods: GVHD was induced in mice after hematopoietic stem cell transplantation (HSCT) between MHC-mismatched mouse strains. Subconjunctival injection of hMSCs was applied at day 10 post-HSCT. Infiltration of CD3+ cells in the cornea and epithelial alterations were analyzed by immunofluorescence. Tear was assessed using the PRT test and TearLab Osmolarity System. qPCR was used to evaluate changes in cytokines, Pax6 and Sprr1b expression. To evaluate the effect of irradiation, we analyzed the expression of these genes in TBI mice. Results: Immune cell invasion occurs in mice with GVHD, as shown by the presence of CD3+ cells in the cornea. Interestingly, eyes treated with hMSC did not present CD3+ cells. Tear osmolarity was increased in GVHD eyes, but not in treated eyes. TNFa expression was highly increased in all corneas except in Control and treated eyes. Pax6 in corneal epithelium showed a similar pattern in GVHD and Control mice, and its gene expression was enhanced in GVHD corneas. In contrast, Pax6 was reduced in GVHD + MSC corneas. We also found an increase in SPRR1B staining in GVHD eyes that was lower in GVHD + MSC mice, demonstrating that corneal keratinization is less frequent after treatment with hMSC. Conclusions: The treatment with hMSCs by subconjunctival injection is effective in reducing corneal inflammation and squamous metaplasia in ocular GVHD (oGVHD). Local treatment with hMSCs is a promising strategy for oGVHD.This study was supported by Fund for Health of Spain (FIS) grant PI12/00939 and Red de Terapia Celular de Castilla y León. Rafael Martínez-Carrasco was supported by a grant from Junta de Castilla y León. A. Velasco, J. Aijón and E. Hernández-Galilea belong to UIC.077 and L.I. Sánchez-Abarca and F. Sánchez-Guijo to UIC-116 from Junta de Castilla y León

Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA

Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. This study aimed to elucidate the true effects of 18 mutations on VWF mRNA processing, investigate the contribution of next-generation sequencing to in vivo mRNA study in von Willebrand disease, and compare the findings with in silico prediction. RNA extracted from patient platelets and leukocytes was amplified by RT-PCR and sequenced using Sanger and next generation sequencing techniques. Eight mutations affected VWF splicing: c.1533+1G>A, c.5664+2T>C and c.546G>A (p.=) prompted exon skipping; c.3223-7_3236dup and c.7082-2A>G resulted in activation of cryptic sites; c.3379+1G>A and c.7437G>A) demonstrated both molecular pathogenic mechanisms simultaneously; and the p.Cys370Tyr missense mutation generated two aberrant transcripts. Of note, the complete effect of three mutations was provided by next generation sequencing alone because of low expression of the aberrant transcripts. In the remaining 10 mutations, no effect was elucidated in the experiments. However, the differential findings obtained in platelets and leukocytes provided substantial evidence that four of these would have an effect on VWF levels. In this first report using next generation sequencing technology to unravel the effects of VWF mutations on splicing, the technique yielded valuable information. Our data bring to light the importance of studying the effect of synonymous and missense mutations on VWF splicing to improve the current knowledge of the molecular mechanisms behind von Willebrand disease. clinicaltrials.gov identifier:02869074

Unraveling the effect of silent, intronic and missense mutations on VWF splicing : contribution of next generation sequencing in the study of mRNA

Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. This study aimed to elucidate the true effects of 18 mutations on VWF mRNA processing, investigate the contribution of next-generation sequencing to in vivo mRNA study in von Willebrand disease, and compare the findings with in silico prediction. RNA extracted from patient platelets and leukocytes was amplified by RT-PCR and sequenced using Sanger and next generation sequencing techniques. Eight mutations affected VWF splicing: c.1533+1G>A, c.5664+2T>C and c.546G>A (p.=) prompted exon skipping; c.3223-7_3236dup and c.7082-2A>G resulted in activation of cryptic sites; c.3379+1G>A and c.7437G>A) demonstrated both molecular pathogenic mechanisms simultaneously; and the p.Cys370Tyr missense mutation generated two aberrant transcripts. Of note, the complete effect of three mutations was provided by next generation sequencing alone because of low expression of the aberrant transcripts. In the remaining 10 mutations, no effect was elucidated in the experiments. However, the differential findings obtained in platelets and leukocytes provided substantial evidence that four of these would have an effect on VWF levels. In this first report using next generation sequencing technology to unravel the effects of VWF mutations on splicing, the technique yielded valuable information. Our data bring to light the importance of studying the effect of synonymous and missense mutations on VWF splicing to improve the current knowledge of the molecular mechanisms behind von Willebrand disease. identifier:02869074

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

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

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES) : comprehensive genetic analysis by next-generation sequencing of 480 patients

Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand disease. Molecular analysis of relevant regions of the VWF, including intronic and promoter regions, was achieved in the 556 individuals recruited via the development of a simple, innovative, relatively low-cost protocol based on microfluidic technology and next-generation sequencing. A total of 704 variants (237 different) were identified along VWF, 155 of which had not been previously recorded in the international mutation database. The potential pathogenic effect of these variants was assessed by in silico analysis. Furthermore, four short tandem repeats were analyzed in order to evaluate the ancestral origin of recurrent mutations. The outcome of genetic analysis allowed for the reclassification of 110 patients, identification of 37 asymptomatic carriers (important for genetic counseling) and re-inclusion of 43 patients previously excluded by phenotyping results. In total, 480 patients were definitively diagnosed. Candidate mutations were identified in all patients except 13 type 1 von Willebrand disease, yielding a high genotype-phenotype correlation. Our data reinforce the capital importance and usefulness of genetics in von Willebrand disease diagnostics. The progressive implementation of molecular study as the first-line test for routine diagnosis of this condition will lead to increasingly more personalized and effective care for this patient population