531 research outputs found

    Effectiveness of mobile-phone short message service (SMS) reminders for ophthalmology outpatient appointments: Observational study

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    Abstract Background Non-attendance for hospital outpatient appointments is a significant problem in many countries. It causes suboptimal use of clinical and administrative staff and financial losses, as well as longer waiting times. The use of Short Message Service (SMS) appointment reminders potentially offers a cost-effective and time-efficient strategy to decrease non-attendance and so improve the efficiency of outpatient healthcare delivery. Methods An SMS text message was sent to patients with scheduled appointments between April and September 2006 in a hospital ophthalmology department in London, reminding them of their appointments. This group acted as the intervention group. Controls were patients with scheduled ophthalmology appointments who did not receive an SMS or any alternative reminder. Results During the period of the study, 11.2% (50/447) of patients who received an SMS appointment reminder were non-attenders, compared to 18.1% (1720/9512) who did not receive an SMS reminder. Non-attendance rates were 38% lower in patients who received an SMS reminder than in patients who did not receive a reminder (RR of non-attendance = 0.62; 95% CI = 0.48 – 0.80). Conclusion The use of SMS reminders for ophthalmology outpatient appointments was associated with a reduction of 38% in the likelihood of patients not attending their appointments, compared to no appointment reminder. The use of SMS reminders may also be more cost-effective than traditional appointment reminders and require less labour. These findings should be confirmed with a more rigorous study design before a wider roll-out.</p

    Professors on the Board: Do They Contribute to Society Outside the Classroom?

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    According to our data, 38.5 % of S&P 1500 firms have at least one professor on their boards. Given the lack of research examining the roles and effects of academic faculty as members of boards of directors (professor–directors) on corporate outcomes, this study investigates whether firms with professor–directors are more likely to exhibit higher corporate social responsibility (CSR) performance ratings. Results indicate that firms with professor–directors do exhibit higher CSR performance ratings than those without. However, the influence of professor–directors on firm CSR performance ratings depends on their academic background—the positive association between the presence of professor–directors and firm CSR performance ratings is significant only when their academic background is specialized (e.g., science, engineering, and medicine). Finally, this positive association weakens when professor–directors hold an administrative position at their universities

    Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

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    While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome sequencing (RNA-seq), which surveys all mRNAs to reveal functional impacts of variants at the transcription level, into the gene discovery framework for a unique human disease, microcephaly-micromelia syndrome (MMS). MMS is an autosomal recessive condition described thus far in only a single First Nations population and causes intrauterine growth restriction, severe microcephaly, craniofacial anomalies, skeletal dysplasia, and neonatal lethality. Linkage analysis of affected families, including a very large pedigree, identified a single locus on Chromosome 21 linked to the disease (LOD > 9). Comprehensive genome sequencing did not reveal any pathogenic coding or canonical splicing mutations within the linkage region but identified several nonconserved noncoding variants. RNA-seq analysis detected aberrant splicing in DONSON due to one of these noncoding variants, showing a causative role for DONSON disruption in MMS. We show that DONSON is expressed in progenitor cells of embryonic human brain and other proliferating tissues, is co-expressed with components of the DNA replication machinery, and that Donson is essential for early embryonic development in mice as well, suggesting an essential conserved role for DONSON in the cell cycle. Our results demonstrate the utility of integrating transcriptomics into the study of human genetic disease when DNA sequencing alone is not sufficient to reveal the underlying pathogenic mutation

    The Scottish Early Rheumatoid Arthritis (SERA) Study:an inception cohort and biobank

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    Background: The Scottish Early Rheumatoid Arthritis (SERA) study is an inception cohort of rheumatoid (RA) and undifferentiated arthritis (UA) patients that aims to provide a contemporary description of phenotype and outcome and facilitate discovery of phenotypic and prognostic biomarkers Methods: Demographic and clinical outcome data are collected from newly diagnosed RA/UA patients every 6 months from around Scotland. Health service utilization data is acquired from Information Services Division, NHS National Services Scotland. Plain radiographs of hands and feet are collected at baseline and 12 months. Additional samples of whole blood, plasma, serum and filtered urine are collected at baseline, 6 and 12 months Results: Results are available for 1073 patients; at baseline, 76 % were classified as RA and 24 % as UA. Median time from onset to first review was 163 days (IQR97-323). Methotrexate was first-line DMARD for 75 % patients. Disease activity, functional ability and health-related quality of life improved significantly between baseline and 24 months, however the proportion in any employment fell (51 to 38 %, p = 0.0005). 24 % patients reported symptoms of anxiety and/or depression at baseline. 35/391 (9 %) patients exhibited rapid radiographic progression after 12 months. The SERA Biobank has accrued 60,612 samples Conclusions: In routine care, newly diagnosed RA/UA patients experience significant improvements in disease activity, functional ability and health-related quality of life but have high rates of psychiatric symptoms and declining employment rates. The co-existence of a multi-domain description of phenotype and a comprehensive biobank will facilitate multi-platform translational research to identify predictive markers of phenotype and prognosis

    Plasticity of the Muscle Stem Cell Microenvironment

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    Satellite cells (SCs) are adult muscle stem cells capable of repairing damaged and creating new muscle tissue throughout life. Their functionality is tightly controlled by a microenvironment composed of a wide variety of factors, such as numerous secreted molecules and different cell types, including blood vessels, oxygen, hormones, motor neurons, immune cells, cytokines, fibroblasts, growth factors, myofibers, myofiber metabolism, the extracellular matrix and tissue stiffness. This complex niche controls SC biology-quiescence, activation, proliferation, differentiation or renewal and return to quiescence. In this review, we attempt to give a brief overview of the most important players in the niche and their mutual interaction with SCs. We address the importance of the niche to SC behavior under physiological and pathological conditions, and finally survey the significance of an artificial niche both for basic and translational research purposes

    Mapping human dispersals into the Horn of Africa from Arabian Ice Age refugia using mitogenomes

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    Rare mitochondrial lineages with relict distributions can sometimes be disproportionately informative about deep events in human prehistory. We have studied one such lineage, haplogroup R0a, which uniquely is most frequent in Arabia and the Horn of Africa, but is distributed much more widely, from Europe to India. We conclude that: (1) the lineage ancestral to R0a is more ancient than previously thought, with a relict distribution across the Mediterranean/Southwest Asia; (2) R0a has a much deeper presence in Arabia than previously thought, highlighting the role of at least one Pleistocene glacial refugium, perhaps on the Red Sea plains; (3) the main episode of dispersal into Eastern Africa, at least concerning maternal lineages, was at the end of the Late Glacial, due to major expansions from one or more refugia in Arabia; (4) there was likely a minor Late Glacial/early postglacial dispersal from Arabia through the Levant and into Europe, possibly alongside other lineages from a Levantine refugium; and (5) the presence of R0a in Southwest Arabia in the Holocene at the nexus of a trading network that developed after ~3 ka between Africa and the Indian Ocean led to some gene flow even further afield, into Iran, Pakistan and India

    Should Tyrosine Kinase Inhibitors Be Considered for Advanced Non-Small-Cell Lung Cancer Patients With Wild Type EGFR? Two Systematic Reviews and Meta-Analyses of Randomized Trials

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    Guidance concerning tyrosine kinase inhibitors (TKIs) for patients with wild type epidermal growth factor receptor (EGFR) and advanced non-small-cell lung cancer (NSCLC) after first-line treatment is unclear. We assessed the effect of TKIs as second-line therapy and maintenance therapy after first-line chemotherapy in two systematic reviews and meta-analyses, focusing on patients without EGFR mutations. Systematic searches were completed and data extracted from eligible randomized controlled trials. Three analytical approaches were used to maximize available data. Fourteen trials of second-line treatment (4388 patients) were included. Results showed the effect of TKIs on progression-free survival (PFS) depended on EGFR status (interaction hazard ratio [HR], 2.69; P = .004). Chemotherapy benefited patients with wild type EGFR (HR, 1.31; P < .0001), TKIs benefited patients with mutations (HR, 0.34; P = .0002). Based on 12 trials (85% of randomized patients) the benefits of TKIs on PFS decreased with increasing proportions of patients with wild type EGFR (P = .014). Six trials of maintenance therapy (2697 patients) were included. Results showed that although the effect of TKIs on PFS depended on EGFR status (interaction HR, 3.58; P < .0001), all benefited from TKIs (wild type EGFR: HR, 0.82; P = .01; mutated EGFR: HR, 0.24; P < .0001). There was a suggestion that benefits of TKIs on PFS decreased with increasing proportions of patients with wild type EGFR (P = .11). Chemotherapy should be standard second-line treatment for patients with advanced NSCLC and wild type EGFR. TKIs might be unsuitable for unselected patients. TKIs appear to benefit all patients compared with no active treatment as maintenance treatment, however, direct comparisons with chemotherapy are needed

    Editorial Peer Reviewers' Recommendations at a General Medical Journal: Are They Reliable and Do Editors Care?

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    BACKGROUND: Editorial peer review is universally used but little studied. We examined the relationship between external reviewers' recommendations and the editorial outcome of manuscripts undergoing external peer-review at the Journal of General Internal Medicine (JGIM). METHODOLOGY/PRINCIPAL FINDINGS: We examined reviewer recommendations and editors' decisions at JGIM between 2004 and 2008. For manuscripts undergoing peer review, we calculated chance-corrected agreement among reviewers on recommendations to reject versus accept or revise. Using mixed effects logistic regression models, we estimated intra-class correlation coefficients (ICC) at the reviewer and manuscript level. Finally, we examined the probability of rejection in relation to reviewer agreement and disagreement. The 2264 manuscripts sent for external review during the study period received 5881 reviews provided by 2916 reviewers; 28% of reviews recommended rejection. Chance corrected agreement (kappa statistic) on rejection among reviewers was 0.11 (p<.01). In mixed effects models adjusting for study year and manuscript type, the reviewer-level ICC was 0.23 (95% confidence interval [CI], 0.19-0.29) and the manuscript-level ICC was 0.17 (95% CI, 0.12-0.22). The editors' overall rejection rate was 48%: 88% when all reviewers for a manuscript agreed on rejection (7% of manuscripts) and 20% when all reviewers agreed that the manuscript should not be rejected (48% of manuscripts) (p<0.01). CONCLUSIONS/SIGNIFICANCE: Reviewers at JGIM agreed on recommendations to reject vs. accept/revise at levels barely beyond chance, yet editors placed considerable weight on reviewers' recommendations. Efforts are needed to improve the reliability of the peer-review process while helping editors understand the limitations of reviewers' recommendations

    Consensus on a video analysis framework of descriptors and definitions by the Rugby Union Video Analysis Consensus group

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    Using an expert consensus-based approach, a rugby union Video Analysis Consensus (RUVAC) group was formed to develop a framework for video analysis research in rugby union. The aim of the framework is to improve the consistency of video analysis work in rugby union and help enhance the overall quality of future research in the sport. To reach consensus, a systematic review and Delphi method study design was used. After a systematic search of the literature, 17 articles were used to develop the final framework that described and defined key actions and events in rugby union (rugby). Thereafter, a group of researchers and practitioners with experience and expertise in rugby video analysis formed the RUVAC group. Each member of the group examined the framework of descriptors and definitions and rated their level of agreement on a 5-point agreement Likert scale (1: strongly disagree; 2: disagree; 3: neitheragree or disagree; 4: agree; 5: strongly agree). The mean rating of agreement on the five-point scale (1: strongly disagree; 5: strongly agree) was 4.6 (4.3–4.9), 4.6 (4.4–4.9), 4.7 (4.5–4.9), 4.8 (4.6–5.0) and 4.8 (4.6–5.0) for the tackle, ruck, scrum, line-out and maul, respectively. The RUVAC group recommends using this consensus as the starting framework when conducting rugby video analysis research. Which variables to use (if not all) depends on the objectives of the study. Furthermore, the intention of this consensus is to help integrate video data with other data (eg, injury surveillance)
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