433 research outputs found

    An investigation into the state of early literacy of preschool learners

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    No Abstract.Journal for Language Teaching vol Vol. 42 (1) 2008: pp. 38-4

    Field Theory of Crystal Defect Structure

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    Taking patient and public involvement online: qualitative evaluation of an online forum for palliative care and rehabilitation research.

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    PLAIN ENGLISH SUMMARY: Patient and public involvement (PPI) is increasingly recognised as important in research. Most PPI takes place face-to-face, but this can be difficult for people who are unwell or have caring responsibilities. As these challenges are particularly common in palliative care and rehabilitation research, we developed an online forum for PPI: www.csipublicinvolvement.co.uk. In this study, we explored how well the online forum worked, if it is a suitable method for PPI, and how PPI members and researchers reacted to using it. We used an existing theory about online interventions to help choose the 'right' questions to ask participants. We invited PPI members and researchers who had used the online forum to participate in focus groups, and identified the most important themes discussed. Within this study, PPI members have helped with the interview questions, analysis, and write up. Overall, four PPI members and five researchers participated in the focus groups. Participants felt the online forum worked well and had multiple benefits. From the discussions, we identified four key questions to consider when developing online methods for PPI: how does the forum work, how does it engage people, how does it empower people, and what is the impact? Participants suggested the forum could be improved by being more PPI and less researcher focused. We conclude that when developing online methods of PPI, a functioning forum is not enough: it also needs to be engaging and empowering to have an impact. Future work can use these four domains when developing their own online PPI methods. BACKGROUND: Patient and public involvement (PPI) in research is increasingly recognised as important. Most PPI activities take place face-to-face, yet this can be difficult for people with ill health or caring responsibilities, and may exclude people from hard-to-reach populations (e.g. living in vulnerable social circumstances and/or remote geographical locations). These challenges are particularly pertinent in palliative care and rehabilitation research where people often live with, or care for someone with, advanced illness. In response to this, we aimed to test the functionality, feasibility, and acceptability of an online forum for PPI for palliative care and rehabilitation research (www.csipublicinvolvement.co.uk). METHODS: We conducted separate focus groups with PPI members and researchers who had used the online forum. Data collection was underpinned by DeLone and Mclean's model of information systems success. Focus groups were recorded, transcribed, and analysed using inductive thematic analysis. Dual coding by two authors ensured rigour, and attention was paid to divergent cases. RESULTS: Four PPI members and five researchers participated in the focus groups (two PPI focus groups, one researcher focus group). The online forum was perceived as functional, feasible, and acceptable. Our analysis identified four key questions to consider when developing online methods for PPI: (1) how does the forum work, (2) how does it engage people, (3) how does it empower people, and (4) what is the impact? PPI members felt that the online forum was too researcher led, and needed to be more PPI focussed. CONCLUSIONS: When developing online methods of PPI, a functioning forum is not enough: it also needs to be engaging and empowering to have an impact. To optimise online involvement, future work should refer to these four domains and balance the needs of researchers and PPI members

    Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection

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    Zaïre ebolavirus (ZEBOV) infection rapidly outruns the host's immunity and leads to death within a week. Fatal cases have been associated with an aberrant innate, proinflammatory immune response followed by a suppressed adaptive response leading to the rapid depletion of peripheral NK cells and lymphocytes. A critical role for NK cells has been suggested but not elucidated. In this genetic study, we investigated the association of KIR genotype with disease outcome by comparing genotypes of a Gabonese control population, IgG+ contacts, survivors, and fatalities of ZEBOV infection. We showed that the activating KIR2DS1 and KIR2DS3 genes associate with fatal outcome in Ebola virus infection. In addition, this study brings supplemental evidence in favor of the specificity of the IgG+ contact population. The outcome of fulminating Ebola virus infection could depend in part on the host's inherited KIR gene repertoire. This supports a key role for KIRs in disease susceptibility to infections

    A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations

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    BACKGROUND: The role of mutations in the serine protease inhibitor Kazal type 1 (SPINK1) gene in chronic pancreatitis is still a matter of debate. Active SPINK1 is thought to antagonize activated trypsin. Cases of SPINK1 mutations, especially N34S, have been reported in a subset of patients with idiopathic chronic pancreatitis. However, the inheritance pattern is still unknown. Some cases with N34S heterozygosity have been reported with and without evidence for CP indicating neither an autosomal recessive nor dominant trait. Therefore SPINK1 mutations have been postulated to act as a disease modifier requiring additional mutations in a more complex genetic model. Familial hypocalciuric hypercalcemia (FHH) caused by heterozygous inactivating mutations in the calcium sensing receptor (CASR) gene is considered a benign disorder with elevated plasma calcium levels. Although hypercalcemia represents a risk factor for pancreatitis, increased rates of pancreatitis in patients with FHH have not been reported thus far. METHODS: We studied a family with a FHH-related hypercalcemia and chronic pancreatitis. DNA samples were analysed for mutations within the cationic trypsinogen (N29I, R122H) and SPINK1 (N34S) gene using melting curve analysis. Mutations within CASR gene were identified by DNA sequencing. RESULTS: A N34S SPINK1 mutation was found in all screened family members. However, only two family members developed chronic pancreatitis. These patients also had FHH caused by a novel, sporadic mutation in the CASR gene (518T>C) leading to an amino acid exchange (leucine->proline) in the extracellular domain of the CASR protein. CONCLUSION: Mutations in the calcium sensing receptor gene might represent a novel as yet unidentified predisposing factor which may lead to an increased susceptibility for chronic pancreatitis. Moreover, this family analysis supports the hypothesis that SPINK1 mutations act as disease modifier and suggests an even more complex genetic model in SPINK1 related chronic pancreatitis

    Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

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    Group recommended a panel of mutations and variants that should be tested to determine carrier status within the CFTR gene as a part of population screening programs.1,2 This was initially done in response to the recommendations of an NIH CF Consensus Conference that CF carrier screening be consid-ered by all couples for use before conception or prenatally.3 At that time, the Working Group recognized limitations in our understanding of the population frequencies of several CF al-leles and proposed to review mutation distribution data after the first two years of the program. In 2002, as part of an ongo-ing effort to ensure that the cystic fibrosis carrier screening programs are current with respect to the scientific literature and other available data and practices, we initiated a second review of data on the distribution of mutations in different ethnic groups and we began to assess whether providers wer

    Short-term efficacy of physical interventions in osteoarthritic knee pain. A systematic review and meta-analysis of randomised placebo-controlled trials.

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    BACKGROUND: Treatment efficacy of physical agents in osteoarthritis of the knee (OAK) pain has been largely unknown, and this systematic review was aimed at assessing their short-term efficacies for pain relief. METHODS: Systematic review with meta-analysis of efficacy within 1-4 weeks and at follow up at 1-12 weeks after the end of treatment. RESULTS: 36 randomised placebo-controlled trials (RCTs) were identified with 2434 patients where 1391 patients received active treatment. 33 trials satisfied three or more out of five methodological criteria (Jadad scale). The patient sample had a mean age of 65.1 years and mean baseline pain of 62.9 mm on a 100 mm visual analogue scale (VAS). Within 4 weeks of the commencement of treatment manual acupuncture, static magnets and ultrasound therapies did not offer statistically significant short-term pain relief over placebo. Pulsed electromagnetic fields offered a small reduction in pain of 6.9 mm [95% CI: 2.2 to 11.6] (n = 487). Transcutaneous electrical nerve stimulation (TENS, including interferential currents), electro-acupuncture (EA) and low level laser therapy (LLLT) offered clinically relevant pain relieving effects of 18.8 mm [95% CI: 9.6 to 28.1] (n = 414), 21.9 mm [95% CI: 17.3 to 26.5] (n = 73) and 17.7 mm [95% CI: 8.1 to 27.3] (n = 343) on VAS respectively versus placebo control. In a subgroup analysis of trials with assumed optimal doses, short-term efficacy increased to 22.2 mm [95% CI: 18.1 to 26.3] for TENS, and 24.2 mm [95% CI: 17.3 to 31.3] for LLLT on VAS. Follow-up data up to 12 weeks were sparse, but positive effects seemed to persist for at least 4 weeks after the course of LLLT, EA and TENS treatment was stopped. CONCLUSION: TENS, EA and LLLT administered with optimal doses in an intensive 2-4 week treatment regimen, seem to offer clinically relevant short-term pain relief for OAK

    Clustered Gene Expression Changes Flank Targeted Gene Loci in Knockout Mice

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    Gene expression profiling using microarrays is a powerful technology widely used to study regulatory networks. Profiling of mRNA levels in mutant organisms has the potential to identify genes regulated by the mutated protein.Using tissues from multiple lines of knockout mice we have examined genome-wide changes in gene expression. We report that a significant proportion of changed genes were found near the targeted gene.The apparent clustering of these genes was explained by the presence of flanking DNA from the parental ES cell. We provide recommendations for the analysis and reporting of microarray data from knockout mice

    Sensory information in perceptual-motor sequence learning: visual and/or tactile stimuli

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    Sequence learning in serial reaction time (SRT) tasks has been investigated mostly with unimodal stimulus presentation. This approach disregards the possibility that sequence acquisition may be guided by multiple sources of sensory information simultaneously. In the current study we trained participants in a SRT task with visual only, tactile only, or bimodal (visual and tactile) stimulus presentation. Sequence performance for the bimodal and visual only training groups was similar, while both performed better than the tactile only training group. In a subsequent transfer phase, participants from all three training groups were tested in conditions with visual, tactile, and bimodal stimulus presentation. Sequence performance between the visual only and bimodal training groups again was highly similar across these identical stimulus conditions, indicating that the addition of tactile stimuli did not benefit the bimodal training group. Additionally, comparing across identical stimulus conditions in the transfer phase showed that the lesser sequence performance from the tactile only group during training probably did not reflect a difference in sequence learning but rather just a difference in expression of the sequence knowledge
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