102 research outputs found

    Prevalence and characteristics of self-reported physical and mental disorders among adults with hearing loss in Denmark: a national survey

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    PURPOSE: Existing research shows that people with hearing loss have a high risk of additional physical and mental disorders. However, only a few population-based studies have been conducted. This study assesses the prevalence and characteristics of additional disorders among adults with hearing loss in Denmark and thereby contributes a population-based study to this area of research. METHOD: Data on self-reported physical and mental disorders from a national survey of 772 adults with hearing loss were compared to corresponding data from a national survey of 18,017 adults from the general population. RESULTS: People with hearing loss reported more physical and mental disorders than the general population. Specifically, they reported higher incidences of visual impairment, cerebral palsy, intellectual impairment, and "other mental disorders". CONCLUSION: Adults with hearing loss have a greater risk of additional physical and mental disorders. It is important for clinicians to have some understanding of the communication needs and characteristics of deaf and hard-of-hearing patients, so that they can recognize and treat symptoms and provide appropriate support

    The Significance of Deaf Identity for Psychological Well-Being

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    Research has paid attention to how deaf identity affects life outcomes such as psychological well-being. However, studies are often carried out with small samples and without controlling for other variables. This study examined how different forms of identity—deaf, hearing, bicultural (deaf and hearing), and marginal (neither deaf nor hearing)—were associated with levels of psychological well-being and a number of other variables. The sample was 742 adults with hearing loss in Denmark. The study found that those with a deaf, hearing or bicultural identity had significantly higher levels of psychological well-being than those with a marginal identity. Further, it found that additional disability, educational level, and feeling discriminated against significantly and independently explained the degree of psychological well-being. Results are discussed here with respect to social identity theory and current deaf identity themes

    Sexuality Among Adults with Congenital Deafblindness: A Cross-Sectional Survey Study Among Primary Carers

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    Research investigating the sexuality of individuals with physical or intellectual disabilities is increasing. However, little is known about the sexuality of people with congenital deafblindness (CDB). The aim of the current study was to create a profile of the sexuality of adults with CDB in Denmark. Data was collected from the primary carers of 95 adults with CDB by use of a survey with questions about sexual behavior, the object of sexual behavior, level of sexual frustration, and pedagogical support for sexual satisfaction. The data were analysed with regard to gender, age, severity of deafblindness, communication, activities of daily living (ADL), cognitive abilities, and carer characteristics. The results revealed that approximately half the number of participants showed sexual behavior while the other half did not. In the majority of cases, sexual behavior was self-stimulation, while, for the rest, sexual behavior was directed towards other people and/or objects. Around one out of ten participants was provided with pedagogical support to help satisfy their sexual needs. Sexual behavior was significantly associated with high scores for communication skills, ADL, and cognitive abilities. Further, high ADL and cognitive abilities were associated with the provision of pedagogical support for sexual satisfaction. Around one out of ten participants, all of whom were men, experienced sexual frustrations. The findings of the current study—the first quantitative study on sexuality among individuals with CDB—are comparable to the findings of studies among individuals with developmental disorders and underline the need for sexuality-related support for individuals with disabilities including those with CDB

    Induction of Cell Membrane Protrusions by the N-terminal Glutaredoxin Domain of a Rare Splice Variant of Human Thioredoxin Reductase 1

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    18 páginas, 5 figuras, 1 esquema, 1 película.The human thioredoxin system has a wide range of functions in cells including regulation of cell proliferation and differentiation, immune system modulation, antioxidant defense, redox control of transcription factor activity, and promotion of cancer development. A key component of this enzymatic system is the selenoprotein thioredoxin reductase 1 (TrxR1), encoded by the TXNRD1 gene. Transcription of TXNRD1 involves alternative splicing, leading to a number of transcripts also encoding isoforms of TrxR1 that differ from each other at their N-terminal domains. Here we have studied the TXNRD1_v3 isoform containing an atypical N-terminal glutaredoxin (Grx) domain. Expression of the transcript of this isoform was found predominantly in testis but was also detected in ovary, spleen, heart, liver, kidney, and pancreas. By immunohistochemical analysis in human testis with antibodies specific for the Grx domain of TXNRD1_v3, the protein was found to be predominantly expressed in the Leydig cells. Expression of the TXNRD1_v3 transcript was also found in several cancer cell lines (HCC1937, H23, A549, U1810, or H157), and in HeLa cells, it was induced by estradiol or testosterone treatments. Surprisingly, green fluorescent protein fusions with the complete TXNRD1_v3 protein or with only its Grx domain localized to distinct cellular sites in proximity to actin, and furthermore, had a potent capacity to rapidly induce cell membrane protrusions. Analyses of these structures suggested that the Grx domain of TXNRD1_v3 localizes first in the emerging protrusion and is then followed into the protrusions by actin and subsequently by tubulin. The results presented thus reveal that TXNRD1_v3 has a unique and distinct expression pattern in human cells and suggest that the protein can guide actin polymerization in relation to cell membrane restructuring.This study was supported by grants from the Swedish Cancer Society, the Swedish Research Council (Medicine), the Åke Wibergs Foundation and Karolinska Institutet.Peer reviewe

    Differentially expressed alternatively spliced genes in Malignant Pleural Mesothelioma identified using massively parallel transcriptome sequencing

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    <p>Abstract</p> <p>Background</p> <p>Analyses of Expressed Sequence Tags (ESTs) databases suggest that most human genes have multiple alternative splice variants. The alternative splicing of pre-mRNA is tightly regulated during development and in different tissue types. Changes in splicing patterns have been described in disease states. Recently, we used whole-transcriptome shotgun pryrosequencing to characterize 4 malignant pleural mesothelioma (MPM) tumors, 1 lung adenocarcinoma and 1 normal lung. We hypothesized that alternative splicing profiles might be detected in the sequencing data for the expressed genes in these samples.</p> <p>Methods</p> <p>We developed a software pipeline to map the transcriptome read sequences of the 4 MPM samples and 1 normal lung sample onto known exon junction sequences in the comprehensive AceView database of expressed sequences and to count how many reads map to each junction. 13,274,187 transcriptome reads generated by the Roche/454 sequencing platform for 5 samples were compared with 151,486 exon junctions from the AceView database. The exon junction expression index (EJEI) was calculated for each exon junction in each sample to measure the differential expression of alternative splicing events. Top ten exon junctions with the largest EJEI difference between the 4 mesothelioma and the normal lung sample were then examined for differential expression using Quantitative Real Time PCR (qRT-PCR) in the 5 sequenced samples. Two of the differentially expressed exon junctions (ACTG2.aAug05 and CDK4.aAug05) were further examined with qRT-PCR in additional 18 MPM and 18 normal lung specimens.</p> <p>Results</p> <p>We found 70,953 exon junctions covered by at least one sequence read in at least one of the 5 samples. All 10 identified most differentially expressed exon junctions were validated as present by RT-PCR, and 8 were differentially expressed exactly as predicted by the sequence analysis. The differential expression of the AceView exon junctions for the ACTG2 and CDK4 genes were also observed to be statistically significant in an additional 18 MPM and 18 normal lung samples examined using qRT-PCR. The differential expression of these two junctions was shown to successfully classify these mesothelioma and normal lung specimens with high sensitivity (89% and 78%, respectively).</p> <p>Conclusion</p> <p>Whole-transcriptome shotgun sequencing, combined with a downstream bioinformatics pipeline, provides powerful tools for the identification of differentially expressed exon junctions resulting from alternative splice variants. The alternatively spliced genes discovered in the study could serve as useful diagnostic markers as well as potential therapeutic targets for MPM.</p

    Structure, Function, and Evolution of the Thiomonas spp. Genome

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    Bacteria of the Thiomonas genus are ubiquitous in extreme environments, such as arsenic-rich acid mine drainage (AMD). The genome of one of these strains, Thiomonas sp. 3As, was sequenced, annotated, and examined, revealing specific adaptations allowing this bacterium to survive and grow in its highly toxic environment. In order to explore genomic diversity as well as genetic evolution in Thiomonas spp., a comparative genomic hybridization (CGH) approach was used on eight different strains of the Thiomonas genus, including five strains of the same species. Our results suggest that the Thiomonas genome has evolved through the gain or loss of genomic islands and that this evolution is influenced by the specific environmental conditions in which the strains live

    Factors influencing physical activity and rehabilitation in survivors of critical illness: a systematic review of quantitative and qualitative studies

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    PURPOSE: To identify, evaluate and synthesise studies examining the barriers and enablers for survivors of critical illness to participate in physical activity in the ICU and post-ICU settings from the perspective of patients, caregivers and healthcare providers. METHODS: Systematic review of articles using five electronic databases: MEDLINE, CINAHL, EMBASE, Cochrane Library, Scopus. Quantitative and qualitative studies that were published in English in a peer-reviewed journal and assessed barriers or enablers for survivors of critical illness to perform physical activity were included. Prospero ID: CRD42016035454. RESULTS: Eighty-nine papers were included. Five major themes and 28 sub-themes were identified, encompassing: (1) patient physical and psychological capability to perform physical activity, including delirium, sedation, illness severity, comorbidities, weakness, anxiety, confidence and motivation; (2) safety influences, including physiological stability and concern for lines, e.g. risk of dislodgement; (3) culture and team influences, including leadership, interprofessional communication, administrative buy-in, clinician expertise and knowledge; (4) motivation and beliefs regarding the benefits/risks; and (5) environmental influences, including funding, access to rehabilitation programs, staffing and equipment. CONCLUSIONS: The main barriers identified were patient physical and psychological capability to perform physical activity, safety concerns, lack of leadership and ICU culture of mobility, lack of interprofessional communication, expertise and knowledge, and lack of staffing/equipment and funding to provide rehabilitation programs. Barriers and enablers are multidimensional and span diverse factors. The majority of these barriers are modifiable and can be targeted in future clinical practice
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