10 research outputs found

    Impact of COVID-19 on young people in the EU

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    Following a long recovery from the economic crisis (2007–2013), young people in the EU proved to be more vulnerable to the effects of the restrictions put in place to slow the spread of the COVID-19 pandemic. Young people were more likely than older groups to experience job loss, financial insecurity and mental health problems. They reported reduced life satisfaction and mental well-being associated with the stay-at-home requirements and school closures. While governments responded quickly to the pandemic, most efforts to mitigate the effects of restrictions were temporary measures aimed at preventing job loss and keeping young people in education. This report explores the effects of the pandemic on young people, particularly in terms of their employment, well-being and trust in institutions, and assesses the various policy measures introduced to alleviate these effects

    Labour market segmentation : piloting new empirical and policy analyses

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    This report sets out to describe what labour market segmentation is and why it is problematic for the labour market and society, as well as disadvantaged groups. It takes a broad view of the term to examine the situation that arises when the divergence in working conditions between different groups of workers is attributable to factors other than differentials in human capital levels. The report explores which policies or instruments are most effective in combating labour market segmentation, taking into account specific situational characteristics

    Estimating Labour Market Slack in the European Union

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    Future of manufacturing : born globals and their value chains

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    This study aims to examine how born globals establish, participate in and manage their global value chains (GVCs) and how existing support for internationalising SMEs, and particularly born globals, could be improved. More specifically, the research seeks to identify the born globals’ motivation and challenges in engaging in internationalisation, and how international cooperation affects their performance. At the same time, the report analyses policies across European and non-European countries to examine the extent to which previous action has addressed the needs of internationalising SMEs/born globals and to offer policy pointers. The study was carried out in the period 2016–2018 as part of the Future of Manufacturing in Europe pilot project proposed by the European Parliament and delegated to Eurofound by the European Commission (DG GROW). The research involves the investigation of seven born globals’ value chains and 28 policy measures across 16 countries in Europe and beyond

    Somatic Mosaicism as Modulator of the Global and Intellectual Phenotype in Epimutated Angelman Syndrome Patients

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    Angelman Syndrome (AS) is due to the loss of function of the single UBE3A gene, mapping to chromosome 15q11-q13 and encoding the E6AP ubiquitin ligase. Expression of UBE3A is subject to genomic imprinting which is restricted to the brain, where only the maternal allele is transcribed. AS pathogenetic mechanisms include deletion of the maternal 15q11-13 chromosomal region, chromosome 15 paternal uniparental disomy (UPD), Imprinting Defects (ImpD) leading to silencing of the maternal allele and intragenic mutations of the maternal UBE3A allele. From our AS cohort we sorted out for detailed clinical-molecular characterization six mosaic cases, five with ImpD epimutations and one with patUPD15. This latter case referred for intellectual disability and fortuitously solved by SNP array, is, to our knowledge, the unique patient reported with mosaic patUPD of this imprinted region. Somatic epimutation mosaicism represents a challenge for both clinical and molecular diagnostics. The described patients, referred to our center either for uncertain AS or simply for intellectual disability, could be molecularly characterized by applying a multi-method approach including Methylation-Sensitive PCR and MS-MLPA without a strict cut off. The percentage of normal cells detected ranged up to 40%. We confirm the mild phenotype reported in mosaic AS ImpD and provide a detailed analysis of IQ. Mild mental retardation, with significant difficulties in language expression, but only mildly impaired performance skills, together with pathognomonic EEG, is a cue not to overlook in mosaic AS patients. Mosaic epimutations should be searched also in patients with minor AS features and presenting only with intellectual disability

    Somatic Mosaicism as Modulator of the Global and Intellectual Phenotype in Epimutated Angelman Syndrome Patients

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    Abstract: Angelman Syndrome (AS) is due to the loss of function of the single UBE3A gene, mapping to chromosome 15q11-q13 and encoding the E6AP ubiquitin ligase. Expression of UBE3A is subject to genomic imprinting which is restricted to the brain, where only the maternal allele is transcribed. AS pathogenetic mechanisms include deletion of the maternal 15q11-13 chromosomal region, chromosome 15 paternal uniparental disomy (UPD), Imprinting Defects (ImpD) leading to silencing of the maternal allele and intragenic mutations of the maternal UBE3A allele. From our AS cohort we sorted out for detailed clinical-molecular characterization six mosaic cases, five with ImpD epimutations and one with patUPD15. This latter case referred for intellectual disability and fortuitously solved by SNP array, is, to our knowledge, the unique patient reported with mosaic patUPD of this imprinted region. Somatic epimutation mosaicism represents a challenge for both clinical and molecular diagnostics. The described patients, referred to our center either for uncertain AS or simply for intellectual disability, could be molecularly characterized by applying a multi-method approach including Methylation-Sensitive PCR and MS-MLPA without a strict cut off. The percentage of normal cells detected ranged up to 40%. We confirm the mild phenotype reported in mosaic AS ImpD and provide a detailed analysis of IQ. Mild mental retardation, with significant difficulties in language expression, but only mildly impaired performance skills, together with pathognomonic EEG, is a cue not to overlook in mosaic AS patients. Mosaic epimutations should be searched also in patients with minor AS features and presenting only with intellectual disabilit

    Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life

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    The objective of this study was to identify developmental trajectories of developmental/behavioral phenotypes and possibly their relationship to epilepsy and genotype by analyzing developmental and behavioral features collected prospectively and longitudinally in a cohort of patients with Dravet syndrome (DS).Thirty-four patients from seven Italian tertiary pediatric neurology centers were enrolled in the study. All patients were examined for the SCN1A gene mutation and prospectively assessed from the first years of life with repeated full clinical observations including neurological and developmental examinations. Subjects were found to follow three neurodevelopmental trajectories. In the first group (16 patients), an initial and usually mild decline was observed between the second and the third year of life, specifically concerning visuomotor abilities, later progressing towards global involvement of all abilities. The second group (12 patients) showed an earlier onset of global developmental impairment, progressing towards a generally worse outcome. The third group of only two patients ended up with a normal neurodevelopmental quotient, but with behavioral and linguistic problems. The remaining four patients were not classifiable due to a lack of critical assessments just before developmental decline.The neurodevelopmental trajectories described in this study suggest a differential contribution of neurobiological and genetic factors. The profile of the first group, which included the largest fraction of patients, suggests that in the initial phase of the disease, visuomotor defects might play a major role in determining developmental decline.Early diagnosis of milder cases with initial visuomotor impairment may therefore provide new tools for a more accurate habilitation strategy. (c) 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved

    COVID-19 and older people : impact on their lives, support and care

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    Per part del QUIT com a corresponsal d'Eurofound, la contribuciĂł a l'informe ha estat feta per l'Alejandro Godino.This report captures the impact of the COVID-19 crisis on the quality of life of older citizens, including the impact on their well-being, finances, employment and social inclusion. It explores the effects on the use of care services and older people's reliance on other support. The report presents policy measures that have been implemented in EU Member States to support older people along all of the above-mentioned dimensions. These include measures to support independent living and schemes to support the labour market integration of older people or to prevent unemployment, all of which play a role in the quality of life of older citizens
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