490 research outputs found

    Elderly persons in a situation of dependence: informal caregiver stress and coping

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    Objective: Study the relationship between psychological (stress) and psychological (coping) of the informal caregiver of the elderly in a situation of dependence. Methods: Cross-sectional study involving a sample selected by convenience, of 110 informal caregivers of "Conselho de Faro", Portugal. Data was collected in the homes by application of four instruments to these caregivers (sociodemographic data, assessment of stress intensity; abbreviated scale of coping and Barthel's dependence assessment. Results: The coping strategies centered on the problem (Chi-square = 10.243, p <= 0.037) and on the medium (Chi-square = 9.574, p <= 0.048) were used by the informal caregivers of the more dependent elderly. However, strategies centered on the caregiver were those that generated less stress (beta = -0.378, p <= 0.000). Conclusion: The "coping strategies centered on the caregiver" are those that generate less perception of stress in the informal caregivers

    The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

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    BACKGROUND: Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN–EYE) is to facilitate improvement in diagnosis of RED in European member states. MAIN BODY: Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing. SHORT CONCLUSION: Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED

    A Classification of Motivation and Behavior Change Techniques Used in Self-Determination Theory-Based Interventions in Health Contexts

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    While evidence suggests that interventions based on self-determination theory have efficacy in motivating adoption and maintenance of health-related behaviors, and in promoting adaptive psychological outcomes, the motivational techniques that comprise the content of these interventions have not been comprehensively identified or described. The aim of the present study was to develop a classification system of the techniques that comprise self-determination theory interventions, with satisfaction of psychological needs as an organizing principle. Candidate techniques were identified through a comprehensive review of self-determination theory interventions and nomination by experts. The study team developed a preliminary list of candidate techniques accompanied by labels, definitions, and function descriptions of each. Each technique was aligned with the most closely-related psychological need satisfaction construct (autonomy, competence, or relatedness). Using an iterative expert consensus procedure, participating experts (N=18) judged each technique on the preliminary list for redundancy, essentiality, uniqueness, and the proposed link between the technique and basic psychological need. The procedure produced a final classification of 21 motivation and behavior change techniques (MBCTs). Redundancies between final MBCTs against techniques from existing behavior change technique taxonomies were also checked. The classification system is the first formal attempt to systematize self-determination theory intervention techniques. The classification is expected to enhance consistency in descriptions of selfdetermination theory-based interventions in health contexts, and assist in facilitating synthesis of evidence on interventions based on the theory. The classification is also expected to guide future efforts to identify, describe, and classify the techniques that comprise self-determination theory-based interventions in multiple domains

    Integrative DNA Methylation and Gene Expression Analyses Identify DNA Packaging and Epigenetic Regulatory Genes Associated with Low Motility Sperm

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    In previous studies using candidate gene approaches, low sperm count (oligospermia) has been associated with altered sperm mRNA content and DNA methylation in both imprinted and non-imprinted genes. We performed a genome-wide analysis of sperm DNA methylation and mRNA content to test for associations with sperm function. (NCBI 1788). There was a trend among altered expression of these epigenetic regulatory genes and RPMM DNA methylation class.Using integrative genome-wide approaches we identified CpG methylation profiles and mRNA alterations associated with low sperm motility

    Extensive Copy-Number Variation of Young Genes across Stickleback Populations

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    MM received funding from the Max Planck innovation funds for this project. PGDF was supported by a Marie Curie European Reintegration Grant (proposal nr 270891). CE was supported by German Science Foundation grants (DFG, EI 841/4-1 and EI 841/6-1). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

    Subjective Cognitive Complaints in Participants of the Healthy Brain Ageing Study (HeBA)

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    Subjective cognitive complaints (SCC) have the potential for earlier detection of Alzheimer’s disease and Parkinson’s disease. Currently, the results of the completed online survey in the frame of the HeBA study reveal that 23% of the Luxembourgish participants have SCC with the SCC group having a higher prevalence rate of depression

    Maternal LAMP/p55gagHIV-1 DNA Immunization Induces In Utero Priming and a Long-Lasting Immune Response in Vaccinated Neonates

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    Infants born to HIV-infected mothers are at high risk of becoming infected during gestation or the breastfeeding period. A search is thus warranted for vaccine formulations that will prevent mother-to-child HIV transmission. The LAMP/gag DNA chimeric vaccine encodes the HIV-1 p55gag fused to the lysosome-associated membrane protein-1 (LAMP-1) and has been shown to enhance anti-Gag antibody (Ab) and cellular immune responses in adult and neonatal mice; such a vaccine represents a new concept in antigen presentation. In this study, we evaluated the effect of LAMP/gag DNA immunization on neonates either before conception or during pregnancy. LAMP/gag immunization of BALB/c mice before conception by the intradermal route led to the transfer of anti-Gag IgG1 Ab through the placenta and via breastfeeding. Furthermore, there were an increased percentage of CD4+CD25+Foxp3+T cells in the spleens of neonates. When offspring were immunized with LAMP/gag DNA, the anti-Gag Ab response and the Gag-specific IFN-γ-secreting cells were decreased. Inhibition of anti-Gag Ab production and cellular responses were not observed six months after immunization, indicating that maternal immunization did not interfere with the long-lasting memory response in offspring. Injection of purified IgG in conjunction with LAMP/gag DNA immunization decreased humoral and cytotoxic T-cell responses. LAMP/gag DNA immunization by intradermal injection prior to conception promoted the transfer of Ab, leading to a diminished response to Gag without interfering with the development of anti-Gag T- and B-cell memory. Finally, we assessed responses after one intravenous injection of LAMP/gag DNA during the last five days of pregnancy. The intravenous injection led to in utero immunization. In conclusion, DNA vaccine enconding LAMP-1 with Gag and other HIV-1 antigens should be considered in the development of a protective vaccine for the maternal/fetal and newborn periods
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