57 research outputs found

    Accessing resources: The narratives of women working with a hearing loss

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    This narrative study describes the stories of women who are experiencing a hearing loss while working. It seeks to understand why these women may or may not be accessing resources. A narrative approach was used in order to gain in-depth description of the experiences of the participants. Two one-on-one interviews were completed with each of the eight participants. After analysis of the interviews, five themes emerged. These themes included degree of hearing loss and communication demands, childhood experiences, financial factors, knowledge and awareness of others, and workplace environments. Insights of this “invisible” disability as well as ways in which women understand and cope with their hearing loss are explained. The results of this study will be used to facilitate future qualitative research in this area. They will be used to help change the ways in which individuals are managing a hearing loss while actively working

    Qualitative interview study exploring the patient experience of living with axial spondyloarthritis and fatigue : difficult, demanding and draining

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    Objective: To explore patients’ lived experiences of axial spondyloarthritis (axSpA) and fatigue. Design: Interpretative phenomenological analysis (lived experience) was used as the study design. Analysis drew together codes with similar meaning to create superordinate and subordinate themes. Setting: Rheumatology departments in three National Health Service Foundation Trusts in the north, midlands and south of England. Participants: A purposive sample of seventeen axSpA patients were recruited. The age range was 22–72 years (median age 46), nine were male and eight, female. Results: A central concept of achieving balance was identified as the active process of integrating axSpA symptoms and fatigue into daily life, working with and not against their condition to lead a fulfilled life. This was conveyed through three superordinate themes: struggling to find energy, engaging in everyday life and persevering through difficulties. Struggling to find energy was the challenge of retaining enough stamina to do things in daily life. Engaging in everyday life highlighted dedication to being active and organised, learning through experience and acceptance of a changed way of being. Persevering through difficulties identified the physical and emotional effort required to keep moving forward and the importance of feeling supported. Conclusion: Achieving balance through finding energy, engaging and persevering everyday was fundamental to having the best possible life. The experience of energy emerged as a distinct but related component of fatigue. However, while energy could be maintained or replenished, fatigue was more difficult to overcome and required greater effort. Energy may be a useful indicator of an individual’s current state and ability to sustain activities that supports their well-being, such as exercise. Awareness of the elements of achieving balance in axSpA may enable patients and clinicians to work together to tailor treatments to individual patient need

    The Recombinases Rad51 and Dmc1 Play Distinct Roles in DNA Break Repair and Recombination Partner Choice in the Meiosis of Tetrahymena

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    Repair of programmed DNA double-strand breaks (DSBs) by meiotic recombination relies on the generation of flanking 3â€Č single-stranded DNA overhangs and their interaction with a homologous double-stranded DNA template. In various common model organisms, the ubiquitous strand exchange protein Rad51 and its meiosis-specific homologue Dmc1 have been implicated in the joint promotion of DNA–strand exchange at meiotic recombination sites. However, the division of labor between these two recombinases is still a puzzle. Using RNAi and gene-disruption experiments, we have studied their roles in meiotic recombination and chromosome pairing in the ciliated protist Tetrahymena as an evolutionarily distant meiotic model. Cytological and electrophoresis-based assays for DSBs revealed that, without Rad51p, DSBs were not repaired. However, in the absence of Dmc1p, efficient Rad51p-dependent repair took place, but crossing over was suppressed. Immunostaining and protein tagging demonstrated that only Dmc1p formed strong DSB–dependent foci on meiotic chromatin, whereas the distribution of Rad51p was diffuse within nuclei. This suggests that meiotic nucleoprotein filaments consist primarily of Dmc1p. Moreover, a proximity ligation assay confirmed that little if any Rad51p forms mixed nucleoprotein filaments with Dmc1p. Dmc1p focus formation was independent of the presence of Rad51p. The absence of Dmc1p did not result in compensatory assembly of Rad51p repair foci, and even artificial DNA damage by UV failed to induce Rad51p foci in meiotic nuclei, while it did so in somatic nuclei within one and the same cell. The observed interhomologue repair deficit in dmc1Δ meiosis is consistent with a requirement for Dmc1p in promoting the homologue as the preferred recombination partner. We propose that relatively short and/or transient Rad51p nucleoprotein filaments are sufficient for intrachromosomal recombination, whereas long nucleoprotein filaments consisting primarily of Dmc1p are required for interhomolog recombination

    Linking Symptom Inventories using Semantic Textual Similarity

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    An extensive library of symptom inventories has been developed over time to measure clinical symptoms, but this variety has led to several long standing issues. Most notably, results drawn from different settings and studies are not comparable, which limits reproducibility. Here, we present an artificial intelligence (AI) approach using semantic textual similarity (STS) to link symptoms and scores across previously incongruous symptom inventories. We tested the ability of four pre-trained STS models to screen thousands of symptom description pairs for related content - a challenging task typically requiring expert panels. Models were tasked to predict symptom severity across four different inventories for 6,607 participants drawn from 16 international data sources. The STS approach achieved 74.8% accuracy across five tasks, outperforming other models tested. This work suggests that incorporating contextual, semantic information can assist expert decision-making processes, yielding gains for both general and disease-specific clinical assessment

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∌99% of the euchromatic genome and is accurate to an error rate of ∌1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    Medulloblastoma in childhood: revisiting intrathecal therapy in infants and children

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    A Qualitative Study of the Effects of Hearing Loss and Hearing Aid Use on Music Perception in Performing Musicians

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    Hearing aids (HAs) are important for the rehabilitation of individuals with hearing loss. Although the rehabilitation of speech communication is well understood, less attention has been devoted to understanding hearing-impaired instrumentalists’ needs to actively participate in music. Despite efforts to adjust HA settings for music acoustics, there lacks an understanding of instrumentalists’ needs and if those HA adjustments satisfy their needs. Purpose: The purpose of the current study was to explore the challenges that adult HA-wearing instrumentalists face, which prevent them from listening, responding to, and performing music. Research Design: A qualitative methodology was employed with the use of semistructured interviews conducted with adult amateur instrumentalists. Study Sample: Twelve HA users who were amateur ensemble instrumentalists (playing instruments from the percussion, wind, reed, brass, and string families) and between the ages of 55 and 83 years (seven men and five women) provided data for analysis in this study. Amateur in this context was defined as one who engaged mindfully in pursuit of an activity. Data Collection and Analysis: Semistructured interviews were conducted using an open-ended interview guide. Interviews were recorded and transcribed verbatim. Transcripts were analyzed using conventional qualitative content analysis. Results: Three categories emerged from the data: (1) participatory needs, (2) effects of HA use, and (3) effects of hearing loss. Participants primarily used HAs to hear the conductor’s instructions to meaningfully participate in music rehearsals. Effects of HA use fell within two subcategories: HA music sound quality and use of an HA music program. The effects of hearing loss fell within three subcategories: inability to identify missing information, affected music components, and nonauditory music perception strategies. Conclusions: Not surprisingly, hearing-impaired instrumentalists face challenges participating in their music activities. However, although participants articulated ways in which HAs and hearing loss affect music perception, which in turn revealed perspectives toward listening using the auditory system and other sensory systems, the primary motivation for their HA use was the need to hear the conductor’s directions. These findings suggest that providing hearing-impaired instrumentalists access to musical experience via participation should be prioritized above restoring the perception of musical descriptors. Future research is needed with instrumentalists who no longer listen to or perform music because of hearing loss, so that the relationship between musical auditory deficiencies and participation can be better explored
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