100 research outputs found

    The Effect of EHR-Integrated Patient Reported Outcomes on Satisfaction with Chronic Pain Care

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    Objective Given its complexity, chronic noncancer pain presents an opportunity to use health information technology (IT) to improve care experiences. The objective of this study was to assess whether integrating patient-reported outcomes (PRO) data in an electronic health record (EHR) affects providers and patient satisfaction with chronic noncancer pain care. Study Design We conducted a pragmatic cluster randomized trial involving four family medicine clinics. Methods We enrolled primary care providers (PCPs) and their patients with chronic noncancer pain. In the first seven months (education phase), PCPs in intervention practices received education on how to use PROs for pain care. In the second seven months (PRO phase), patients in intervention practices reported pain-related outcomes upon arrival at their visits. PROs were immediately reported to PCPs through the EHR. Control group PCPs provided usual care. We compared intervention and control practices in terms of provider and patient satisfaction with care. Results During the education phase, patients’ mean ratings of their visits did not differ between control and intervention (9.33 vs. 9.08, p=0.20). During the PRO phase, patients’ mean ratings did not differ between control and intervention (9.28 vs 9.01, p=0.20). Similarly, there were no differences between the intervention and control groups in terms of provider satisfaction. Conclusion Delivering EHR-integrated PROs did not consistently improve patient or provider satisfaction. Positively, we found no evidence that the PRO tools negatively affected satisfaction. Future studies and technological innovations are needed to translate point-of-care health IT tools to improvements in patient and provider experiences

    Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma

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    Burkitt lymphoma (BL) is the most common B-cell lymphoma in children. Within the International Cancer Genome Consortium (ICGC), we performed whole genome and transcriptome sequencing of 39 sporadic BL. Here, we unravel interaction of structural, mutational, and transcriptional changes, which contribute to MYC oncogene dysregulation together with the pathognomonic IG-MYC translocation. Moreover, by mapping IGH translocation breakpoints, we provide evidence that the precursor of at least a subset of BL is a B-cell poised to express IGHA. We describe the landscape of mutations, structural variants, and mutational processes, and identified a series of driver genes in the pathogenesis of BL, which can be targeted by various mechanisms, including IG-non MYC translocations, germline and somatic mutations, fusion transcripts, and alternative splicing

    52 Genetic Loci Influencing Myocardial Mass.

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    BACKGROUND: Myocardial mass is a key determinant of cardiac muscle function and hypertrophy. Myocardial depolarization leading to cardiac muscle contraction is reflected by the amplitude and duration of the QRS complex on the electrocardiogram (ECG). Abnormal QRS amplitude or duration reflect changes in myocardial mass and conduction, and are associated with increased risk of heart failure and death. OBJECTIVES: This meta-analysis sought to gain insights into the genetic determinants of myocardial mass. METHODS: We carried out a genome-wide association meta-analysis of 4 QRS traits in up to 73,518 individuals of European ancestry, followed by extensive biological and functional assessment. RESULTS: We identified 52 genomic loci, of which 32 are novel, that are reliably associated with 1 or more QRS phenotypes at p < 1 × 10(-8). These loci are enriched in regions of open chromatin, histone modifications, and transcription factor binding, suggesting that they represent regions of the genome that are actively transcribed in the human heart. Pathway analyses provided evidence that these loci play a role in cardiac hypertrophy. We further highlighted 67 candidate genes at the identified loci that are preferentially expressed in cardiac tissue and associated with cardiac abnormalities in Drosophila melanogaster and Mus musculus. We validated the regulatory function of a novel variant in the SCN5A/SCN10A locus in vitro and in vivo. CONCLUSIONS: Taken together, our findings provide new insights into genes and biological pathways controlling myocardial mass and may help identify novel therapeutic targets

    Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

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    Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

    THE EFFECT OF STUDENT CHARACTERISTICS ON ACHIEVEMENT IN INTRODUCTORY MICROECONOMICS IN SOUTH AFRICA

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    This paper uses OLS regression analysis to examine the effect of student characteristics on performance in Introductory Microeconomics at five South African universities. No consistent race-effects were found, but Indian students performed significantly worse than Whites at historically-White universities. Male students outperformed females in general. Older students did better at the historically-White institutions only. At one university, Black students who speak English as their home language outperformed those who are non-English speakers. Students who devoted more time to study outside formal classes did better in general. Greater verbal and mathematical ability had large and significant positive effects on student achievement. Copyright (c) 2006 The Author. Journal compilation (c) 2006 Economic Society of South Africa.
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