14 research outputs found

    Note on Unaccompanied Children Fleeing from Ukraine

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    It is evident that the scale and pace, and potentially long lasting nature, of the situation leads to huge difficulties in organising comprehensive responses from a legal, policy and practical perspective. Clearly, lack of shared information, and lack of connection between the different actors, could cause additional problems and place already vulnerable children at further risk.This joint report, by Child Circle and KIND, aims to serve the efforts of the many stakeholders who are working together under a common EU framework of measures, by providing an overview of key issues to consider in particular from the perspective of procedural safeguards and access to protection and safety

    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

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    Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wide significance (P = 2.7 × 10(-8) to P = 2.3 × 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP

    Participação da sociedade civil na política ambiental do Governo Lula

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    O trabalho analisa um conjunto de formas de participação de organizações civis na política ambiental durante o governo de Luiz Inácio Lula da Silva, entre os anos de 2003 e 2008, levando em consideração aspectos da efetividade da participação e da democratização dos debates acerca do meio ambiente. Fundamenta-se em pesquisa qualitativa, com fontes documentais e entrevistas. As conclusões apontam para a existência de uma sociedade civil altamente organizada e que utiliza múltiplos mecanismos de participação visando um alcance maior para a sua efetividade. Sugere, também, que tanto a efetividade quanto a democratização estão ligados à existência de garantias institucionais, sem as quais dificilmente é possível contrapor-se aos interesses econômicos.<br>This paper analyzes the diversified set of forms of participation of civil society organizations within the environmental policy during the government of Luiz Inacio Lula da Silva between 2003 and 2008. It takes into account aspects of effectiveness of participation and the democratization of debates on environment. It is based in qualitative research, with documental sources and interviews. Conclusions show the existence of a highly organized civil society that makes use of multiple mechanisms of participation to reach most effectiveness. It suggests, also, that effectiveness as well as democratization are intimately linked to the existence of institutional warrants, without which it is very difficult to oppose to economic interests

    Simulation-based team training at the sharp end: A qualitative study of simulation-based team training design, implementation, and evaluation in healthcare

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    This article provides a qualitative review of the published literature dealing with the design, implementation, and evaluation of simulation-based team training (SBTT) in healthcare with the purpose of providing synthesis of the present state of the science to guide practice and future research. A systematic literature review was conducted and produced 27 articles meeting the inclusion criteria. These articles were coded using a low-inference content analysis coding scheme designed to extract important information about the training program. Results are summarized in 10 themes describing important considerations for what occurs before, during, and after a training event. Both across disciplines and within Emergency Medicine (EM), SBTT has been shown to be an effective method for increasing teamwork skills. However, the literature to date has underspecified some of the fundamental features of the training programs, impeding the dissemination of lessons learned. Implications of this study are discussed for team training in EM

    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

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    Objective To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. Methods We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model. Results The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with seizures beginning in the first 3 months of life (8/14), developmental delay (4/14), hypotonia (1/14), or movement disorder (1/14). All patients had hypotonia and developmental delay ranging from mild to severe. Nine had epilepsy, and nine had movement disorders, including dystonia, ataxia, chorea, and dyskinesia. The 13 GNAO1 variants in our patients are predicted to result in amino acid substitutions or deletions in the GNAO1 guanosine triphosphate (GTP)-binding region, analogous to those in previous publications. Patients with variants affecting amino acids 207-221 had only movement disorder and hypotonia. Patients with variants affecting the C-terminal region had the mildest phenotypes.

    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

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    OBJECTIVE: To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. METHODS: We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model. RESULTS: The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with seizures beginning in the first 3 months of life (8/14), developmental delay (4/14), hypotonia (1/14), or movement disorder (1/14). All patients had hypotonia and developmental delay ranging from mild to severe. Nine had epilepsy, and nine had movement disorders, including dystonia, ataxia, chorea, and dyskinesia. The 13 GNAO1 variants in our patients are predicted to result in amino acid substitutions or deletions in the GNAO1 guanosine triphosphate (GTP)-binding region, analogous to those in previous publications. Patients with variants affecting amino acids 207-221 had only movement disorder and hypotonia. Patients with variants affecting the C-terminal region had the mildest phenotypes. SIGNIFICANCE: GNAO1 encephalopathy most frequently presents with seizures beginning in the first 3 months of life. Concurrent movement disorders are also a prominent feature in the spectrum of GNAO1 encephalopathy. All variants affected the GTP-binding domain of GNAO1, highlighting the importance of this region for G-protein signaling and neurodevelopment.status: publishe

    Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

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