198 research outputs found
Work-family issues in contemporary Europe
Temes que relacionen la família amb el treball estan captant cada vegada més l'atenció tant del sector privat com del públic. La Unió Europea promou assumptes com la baixes motivades pels fills, l'atenció als menors, l'equilibri entre la vida personal i el treball, i la flexibilitat horària. Així mateix promou canvis a l'entorn, l'estructura i l'organització del lloc de treball. En una línea similar, una creixent pressió per part de la població ha despertat l'interès de les principals empreses per millorar l'equilibri entre ocupació i vida privada dels seus empleats. Avui dia moltes empreses destaquen les preocupacions per la qualitat de vida com un tema de prioritat social. Però on es troba l'origen d'aquesta major conscienciació dels governs i les empreses i una major voluntat d'invertir en la millora de l'equilibri feina-vida dels ciutadans i els empleats? Les causes d'aquesta major receptivitat són en general les conseqüències de canvis sociodemogràfics. A les darreres dècades les dones s'han sumat a les files dels treballadors a una escala massiva. Motivades pel moviment a favor de les dones, que va aconseguir difondre la seva reclamació per la igualtat d'oportunitats tant a l'educació com a l'ocupació, les dones ara es dediquen a tot tipus d'activitats fora de la llar. Les dones de tota Europa, per terme mitjà, ocupen el 40% de les ocupacions a temps complet i el 32% dels llocs directius. La pressió econòmica, en forma de reducció de salaris per als homes, va fer que un gran nombre de dones sortissin a treballar a temps parcial, i va obligar a homes i dones per igual a augmentar les seves jornades laborals per a poder mantenir el seu nivell de vida. L'aportació de dos sous s'ha convertit en una necessitat econòmica per a un nombre creixent de famílies. A més, cada vegada hi ha més progenitors solters, parelles a les quals ambdós tenen una carrera professional, i homes plenament dedicats a cuidar dels seus fills. Per a aquestes persones, i d'altres interessades a compaginar el treball amb la família, trobar un equilibri entre les dues esferes s'ha convertit en una qüestió primordial de la seva vida. Les empreses adopten estratègies per a superar aquests problemes tot aplicant polítiques i programes dirigits a aportar als treballadors recursos que els ajuden a compaginar la dedicació a la família amb la seva carrera professional. Les típiques pràctiques inclouen horaris flexibles, jornades laborals més breus, un lloc de treball compartit per més d'un treballador, el tele-treball, serveis d'atenció per als fills, i arranjaments especials de permisos de maternitat per poder ajudar als treballadors a satisfer les necessitats familiars i personals. Se sap que aquest tipus de pràctiques eleven el nivell de satisfacció laboral, milloren l'ètica i la motivació en el lloc de treball, redueixen l'absentisme i els índexs d'abandó; augmenten la satisfacció de la compaginació entre treball i família, i disminueixen l'estrès i els conflictes que comporta. No obstant això, diversos estudis també han revelat poca o cap relació entre els beneficis que s'ofereixen als empleats o els que usen i el conflicto família-feina. La disponibilitat formal de pràctiques família-feina per si soles tenien una modesta incidència en els resultats de valor tant en el cas dels individus com per a les organitzacions. Els experts proposen que més aviat són altres factors els quals incideixen més a l'hora de reduir el conflicte o estrès família-feina, com és el cas de rebre suport per part dels companys i dels supervisors; a més que els empleats entenguin que poden utilitzar aquestes polítiques sense témer conseqüències negatives a la seva feina ni a la seva carrera professional. Així que des de la investigació i des de la pràctica s'assenyala la importància d'anar més enllà de la formulació de practiques feina-vida cap a un canvi a la cultura de l'organització. El desenvolupament d'una cultura feina-vida que dóna suport i valora la integració del treball i la vida familiar dels empleats es converteix en una necessitat per a poder reduir la falta de sintonia entre la feina i la família. Les investigacions futures haurien de començar a fixar-se en allò que contribueix a una cultura del suport i allò que restringeix la capacitat d'una organització per a crear una cultura laboralfamiliar per als seus empleats.Los temas que relacionan la familia con el trabajo están captando cada vez más la atención tanto del sector privado como del público. La Unión Europea promueve asuntos como la bajas motivadas por los hijos, la atención a los menores, el equilibrio entre la vida personal y el trabajo, y flexibilidad horaria. Asimismo promueve cambios en el entorno, la estructura y la organización del lugar de trabajo. En una línea similar, una creciente presión por parte de la población ha despertado el interés de las principales empresas por mejorar el equilibrio entre empleo y vida privada de sus empleados. Hoy en día muchas empresas destacan las preocupaciones por la calidad de vida como un tema de prioridad social.¿Pero dónde se halla el origen de esta mayor concienciación de los gobiernos y las empresas y una mayor voluntad de invertir en la mejora del equilibrio trabajo-vida de los ciudadanos y los empleados? Las causas de esta mayor receptividad son por lo general las consecuencias de cambios sociodemográficos. En las últimas décadas las mujeres han engrosado las filas de los trabajadores a una escala masiva. Motivadas por el movimiento a favor de las mujeres, que consiguió difundir su reclamación por la igualdad de oportunidades tanto en la educación como en el empleo, las mujeres ahora se dedican a todo tipo de actividades fuera del hogar. Las mujeres de toda Europa, por promedio, ocupan el 40% de los empleos a tiempo completo y el 32% de los puestos directivos. La presión económica, en forma de reducción de salarios para los hombres, hizo que un gran número de mujeres salieran a trabajar a tiempo parcial, y obligó a hombres y mujeres por igual a aumentar sus jornadas laborales para poder mantener su nivel de vida. La aportación de dos sueldos se ha convertido en una necesidad económica para un número creciente de familias. Además, cada vez hay más progenitores solteros, parejas en las que ambos tienen una carrera profesional y hombres plenamente dedicados a cuidar de sus hijos. Para estas personas y otras interesadas encompaginar el trabajo con la familia, encontrar un equilibrio entre las dos esferas se ha convertido en una cuestión primordial de su vida. Estrategias adoptadas por las empresas para superar estos problemas aplican políticas y programas dirigidos a aportar a los trabajadores recursos que les ayudan a compaginar la dedicación a la familia con su carrera profesional. Las típicas prácticas incluyen tiempo flexible, jornadas laborales más breves, un puesto de trabajo compartido por más de un trabajador, tele-trabajo, servicios de cuidados para los hijos y arreglos especiales de permisos de maternidad para ayudar a los trabajadores satisfacer necesidades familiares y personales. Se sabe que este tipo de prácticas elevan el nivel de satisfacción laboral, mejoran la ética y la motivación en el lugar de trabajo, reducen el absentismo y los índices de abandono; aumentan la satisfacción de la compaginación entre trabajo y familia, y disminuyen el estrés y los conflictos que conlleva. Sin embargo, varios estudios también han revelado poca o ninguna relación entre los beneficios que se ofrecen a los empleados o los que usan y el conflicto familia-trabajo. La disponibilidad formal de prácticas familia-laborales por sí solas tenían una modesta incidencia en los resultados de valor tanto enel caso de los individuos como para las organizaciones. Los expertos proponen que más bien son otros factores los que inciden más a la hora de reducir el conflicto o estrés familia-laboral, como es el caso de recibir apoyo por parte de compañeros y supervisores, además de la percepción por parte de los empleados de que puedan utilizar estas políticas sin temer consecuencias negativas en su trabajo ni en su carrera profesional. Así que desde la investigación y la práctica se señala la importancia de ir más allá de la formulación de prácticas trabajo-vida hacia un cambio en la cultura de la organización. El desarrollo de una cultura trabajo-familia que apoya y valora la integración del trabajo y la vida familiar de los empleados se convierte en una necesidad para poder reducir la falta de sintonía entre trabajo y familia. Las investigaciones futuras deberían empezar a centrarse en lo que contribuye a una cultura del apoyo y lo que restringe la capacidad de una organización para crear una cultura trabajo-familiar para sus empleados.Work-family issues are attracting increasing attention at both the public and the private level. The European Union promotes matters such as parental leave, childcare, work-life balance, flexible working hours, and encourages changes in the environment, structure and organisation of work. Along similar lines, growing public pressure has led to interest from leading companies to improve the work-life balance of their employees. Nowadays, many companies highlight life concerns as a priority social issue. But what initiated this increased awareness of governments and companies to invest in improving the work-life balance of their citizens and employees? The origins of this augmented responsiveness are mainly consequences of socio-demographic changes. In the last decades females have entered the labour force on a massive scale. Motivated by the women's movement, which successfully expanded females' claim to equality in educational and employment opportunities, females are now engaged in all kinds of activities outside the home. On average, females across Europe hold 40% of full-time jobs and 32% of management positions. Economic pressure, in the form of wage reductions for males, required a large number of females to enter the workplace on a part-time basis, and forced both males and females to increase their overall working hours in order to maintain their living standards. Dual-earning has become an economic necessity for an increasing number of families. In addition, there are a growing number of single parents, dualcareer couples, and fathers heavily involved in parenting. For these individuals and for others interested in both work and family, balancing the two arenas has become a major life issue. Strategies adopted by companies to overcome these problems enact policies and programs aimed at providing employees with resources to help them manage their work-family lives. Typical practices include flexitime, shorter working hours, jobsharing, tele-working, childcare services and special maternity leave arrangements to help workers meet family and personal needs. Practices have been found to raise employee satisfaction; work ethics and motivation; reduce absenteeism and staff turnover rates; elevate satisfaction with the balance between work and family; and diminish related stress and work-family conflict. However, several studies also found either nonexistent or weak relationships between benefits offered or used by employees and work-family conflict. The formal availability of work-family practices alone had modest relationships with outcomes of value to both individuals and organisations. Scholars rather propose that other factors are more important for reducing work-family conflict or stress, such as having supportive colleagues and supervisors, as well as the perception that employees can use these policies without fearing negative job or career consequences. Therefore researchers and practitioners point out the importance of moving beyond the formulation of work-life practices to a change in organisational culture. The development of a work-family culture which supports and values the integration of employees' work and family lives becomes a necessity for reducing work-family mismatch. Future research should begin focussing on what contributes to a supportive culture and what constrains an organisation's ability to create a workfamily culture for its employees
Traumatische Klickarbeit: Die Menschen hinter ChatGPT
Die Fähigkeiten neuer generativer KI-Modelle oder darauf basierende Produkte wie ChatGPT sind faszinierend. Neben den Bedenken, was dies mit unserer Gesellschaft macht, kommt mehr und mehr Kritik auf an den Arbeitsbedingungen der beteiligten Menschen in solchen Projekten. Wir haben darüber mit unseren Expertinnen gesprochen
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD). More recently, recessive RYR1 mutations have been described in few congenital myopathy patients with variable pathology, including multi-minicores. Although a clinical overlap between patients with dominant and recessive RYR1 mutations exists, in most cases with recessive mutations the pattern of muscle weakness is remarkably different from that observed in dominant CCD. In order to characterize the spectrum of congenital myopathies associated with RYR1 mutations, we have investigated a cohort of 44 patients from 28 families with clinical and/or histopathological features suggestive of RYR1 involvement. We have identified 25 RYR1 mutations, 9 of them novel, including 12 dominant and 13 recessive mutations. With only one exception, dominant mutations were associated with a CCD phenotype, prominent cores and predominantly occurred in the RYR1 C-terminal exons 101 and 102. In contrast, the 13 recessive RYR1 mutations were distributed evenly along the entire RYR1 gene and were associated with a wide range of clinico-pathological phenotypes. Protein expression studies in nine cases suggested a correlation between specific mutations, RyR1 protein levels and resulting phenotype: in particular, whilst patients with dominant or recessive mutations associated with typical CCD phenotypes appeared to have normal RyR1 expression, individuals with more generalized weakness, multi-minicores and external ophthalmoplegia had a pronounced depletion of the RyR1 protein. The phenomenon of protein depletion was observed in some patients compound heterozygous for recessive mutations at the genomic level and silenced another allele in skeletal muscle, providing additional information on the mechanism of disease in these patients. Our data represent the most extensive study of RYR1-related myopathies and indicate complex genotype-phenotype correlations associated with mutations differentially affecting assembly and function of the RyR1 calcium release channe
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Haploinsufficiency in DYRK1A is associated with a recognizable developmental syndrome, though the mechanism of action of pathogenic missense mutations is currently unclear. Here we present 19 de novo mutations in this gene, including five missense mutations, identified by the Deciphering Developmental Disorder study. Protein structural analysis reveals that the missense mutations are either close to the ATP or peptide binding-sites within the kinase domain, or are important for protein stability, suggesting they lead to a loss of the protein's function mechanism. Furthermore, there is some correlation between the magnitude of the change and the severity of the resultant phenotype. A comparison of the distribution of the pathogenic mutations along the length of DYRK1A with that of natural variants, as found in the ExAC database, confirms that mutations in the N-terminal end of the kinase domain are more disruptive of protein function. In particular, pathogenic mutations occur in significantly closer proximity to the ATP and the substrate peptide than the natural variants. Overall, we suggest that de novo dominant mutations in DYRK1A account for nearly 0.5% of severe developmental disorders due to substantially reduced kinase function
Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia
The presymptomatic stages of frontotemporal dementia (FTD) are still poorly defined and encompass a long accrual of progressive biological (preclinical) and then clinical (prodromal) changes, antedating the onset of dementia. The heterogeneity of clinical presentations and the different neuropathological phenotypes have prevented a prior clear description of either preclinical or prodromal FTD. Recent advances in therapeutic approaches, at least in monogenic disease, demand a proper definition of these predementia stages. It has become clear that a consensus lexicon is needed to comprehensively describe the stages that anticipate dementia. The goal of the present work is to review existing literature on the preclinical and prodromal phases of FTD, providing recommendations to address the unmet questions, therefore laying out a strategy for operationalizing and better characterizing these presymptomatic disease stages
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to Exon 44 or 45 skipping
Importance: In Duchenne muscular dystrophy (DMD), the reading frame of an out-of-frame DMD deletion can be repaired by antisense oligonucleotide (AO)–mediated exon skipping. This creates a shorter dystrophin protein, similar to those expressed in the milder Becker muscular dystrophy (BMD). The skipping of some exons may be more efficacious than others. Patients with exon 44 or 45 skippable deletions (AOs in clinical development) have a less predictable phenotype than those skippable for exon 51, a group in advanced clinical trials. A way to predict the potential of AOs is the study of patients with BMD who have deletions that naturally mimic those that would be achieved by exon skipping. Objective: To quantify dystrophin messenger RNA (mRNA) and protein expression in patients with DMD deletions treatable by, or mimicking, exon 44 or 45 skipping. Design, Setting, and Participants: Retrospective study of nondystrophic controls (n = 2), patients with DMD (n = 5), patients with intermediate muscular dystrophy (n = 3), and patients with BMD (n = 13) at 4 university-based academic centers and pediatric hospitals. Biochemical analysis of existing muscle biopsies was correlated with the severity of the skeletal muscle phenotype. Main Outcomes and Measures: Dystrophin mRNA and protein expression. Results: Patients with DMD who have out-of-frame deletions skippable for exon 44 or 45 had an elevated number of revertant and trace dystrophin expression (approximately 19% of control, using quantitative immunohistochemistry) with 4 of 9 patients presenting with an intermediate muscular dystrophy phenotype (3 patients) or a BMD-like phenotype (1 patient). Corresponding in-frame deletions presented with predominantly mild BMD phenotypes and lower dystrophin levels (approximately 42% of control) than patients with BMD modeling exon 51 skipping (approximately 80% of control). All 12 patients with in-frame deletions had a stable transcript compared with 2 of 9 patients with out-of-frame deletions (who had intermediate muscular dystrophy and BMD phenotypes). Conclusions and Relevance: Exon 44 or 45 skipping will likely yield lower levels of dystrophin than exon 51 skipping, although the resulting protein is functional enough to often maintain a mild BMD phenotype. Dystrophin transcript stability is an important indicator of dystrophin expression, and transcript instability in DMD compared with BMD should be explored as a potential biomarker of response to AOs. This study is beneficial for the planning, execution, and analysis of clinical trials for exon
Incidence of Syndromes Associated With Frontotemporal Lobar Degeneration in 9 European Countries
Importance Diagnostic incidence data for syndromes associated with frontotemporal lobar degeneration (FTLD) in multinational studies are urgent in light of upcoming therapeutic approaches.Objective To assess the incidence of FTLD across Europe.Design, Setting, and Participants The Frontotemporal Dementia Incidence European Research Study (FRONTIERS) was a retrospective cohort study conducted from June 1, 2018, to May 31, 2019, using a population-based registry from 13 tertiary FTLD research clinics from the UK, the Netherlands, Finland, Sweden, Spain, Bulgaria, Serbia, Germany, and Italy and including all new FTLD-associated cases during the study period, with a combined catchment population of 11 023 643 person-years. Included patients fulfilled criteria for the behavioral variant of frontotemporal dementia (BVFTD), the nonfluent variant or semantic variant of primary progressive aphasia (PPA), unspecified PPA, progressive supranuclear palsy, corticobasal syndrome, or frontotemporal dementia with amyotrophic lateral sclerosis (FTD-ALS). Data were analyzed from July 19 to December 7, 2021.Main Outcomes and Measures Random-intercept Poisson models were used to obtain estimates of the European FTLD incidence rate accounting for geographic heterogeneity.Results Based on 267 identified cases (mean [SD] patient age, 66.70 [9.02] years; 156 males [58.43%]), the estimated annual incidence rate for FTLD in Europe was 2.36 cases per 100 000 person-years (95% CI, 1.59-3.51 cases per 100 000 person-years). There was a progressive increase in FTLD incidence across age, reaching its peak at the age of 71 years, with 13.09 cases per 100 000 person-years (95% CI, 8.46-18.93 cases per 100 000 person-years) among men and 7.88 cases per 100 000 person-years (95% CI, 5.39-11.60 cases per 100 000 person-years) among women. Overall, the incidence was higher among men (2.84 cases per 100 000 person-years; 95% CI, 1.88-4.27 cases per 100 000 person-years) than among women (1.91 cases per 100 000 person-years; 95% CI, 1.26-2.91 cases per 100 000 person-years). BVFTD was the most common phenotype (107 cases [40.07%]), followed by PPA (76 [28.46%]) and extrapyramidal phenotypes (69 [25.84%]). FTD-ALS was the rarest phenotype (15 cases [5.62%]). A total of 95 patients with FTLD (35.58%) had a family history of dementia. The estimated number of new FTLD cases per year in Europe was 12 057.Conclusions and Relevance The findings suggest that FTLD-associated syndromes are more common than previously recognized, and diagnosis should be considered at any age. Improved knowledge of FTLD incidence may contribute to appropriate health and social care planning and in the design of future clinical trials.Peer reviewe
Dystrophin quantification: biological and translational research implications
Objective: We formed a multi-institution collaboration in order to compare dystrophin quantification methods, reach a consensus on the most reliable method, and report its biological significance in the context of clinical trials. Methods: Five laboratories with expertise in dystrophin quantification performed a data-driven comparative analysis of a single reference set of normal and dystrophinopathy muscle biopsies using quantitative immunohistochemistry and Western blotting. We developed standardized protocols and assessed inter- and intralaboratory variability over a wide range of dystrophin expression levels. Results: Results from the different laboratories were highly concordant with minimal inter- and intralaboratory variability, particularly with quantitative immunohistochemistry. There was a good level of agreement between data generated by immunohistochemistry and Western blotting, although immunohistochemistry was more sensitive. Furthermore, mean dystrophin levels determined by alternative quantitative immunohistochemistry methods were highly comparable. Conclusions: Considering the biological function of dystrophin at the sarcolemma, our data indicate that the combined use of quantitative immunohistochemistry and Western blotting are reliable biochemical outcome measures for Duchenne muscular dystrophy clinical trials, and that standardized protocols can be comparable between competent laboratories. The methodology validated in our study will facilitate the development of experimental therapies focused on dystrophin production and their regulatory approval
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