Programming Musical Experience: Programs' effects on responses to music

Program notes are ubiquitous at Western art music concerts, but their effects on listener experience remain unclear. While understanding and emotional response are positively affected by programs, positive and negative effects of programs have been observed for enjoyment. Across two studies, this thesis explores attitudes towards program notes, and their influences on responses to music. To identify differences between regular and new listeners, each study featured equal numbers of musician and music novice participants. The first study involved semi-structured interviews with 16 participants. Topics covered included participants' conceptions of programs, informational preferences, the role programs played in their musical experiences, and areas where programs required improvement. Interviewees' responses indicated a strong demand for program notes. Music novices and musicians displayed differences in informational preference, and different conceptualisations of how programs contributed to musical engagement. Information which facilitated engagement was most commonly appreciated; practical details were also popular. Several participants noted that programs could restrict freedom of interpretive response. Suggested improvements to programs included making them easier to memorise, and incorporating alternative methods of communicating program information, including pre-concert lectures and "verbal programs". The second study involved 32 musicians and music novices, listening to four music excerpts, each heard under a different informational condition (no program, a title, a title and a program, and a fake program). A significant positive effect of programs on understanding was observed, while no effect on liking or interest was noted. These studies indicate programs are popular, and fulfil multiple functions. They can significantly increase understanding, provide guidance, facilitate engagement, inform readers of extra-musical references, and help orient listeners. Future research should investigate how programs' contributions in each of these areas affects musical experience, and explore new approaches to communicating programmatic information

The epidemiology of injuries in Australian professional Rugby Union 2014 Super Rugby competition

BACKGROUND: Rugby union is a collision-based ball sport played at the professional level internationally. Rugby union has one of the highest reported incidences of injury of all team sports. PURPOSE: To identify the characteristics, incidence, and severity of injuries occurring in Australian professional Super Rugby Union. DESIGN: Descriptive epidemiology study. METHODS: The present study was a prospective epidemiology study on a cohort of 180 professional players from 5 Australian Super Rugby teams during the 2014 Super Rugby Union Tournament. Team medical staff collected and submitted daily training and match-play injury data through a secure, web-based electronic platform. The injury data included the main anatomic location of the injury, specific anatomic structure of the injury, injury diagnosis, training or match injury occurrence, main player position, mechanism of injury, and the severity of the injury quantified based on the number of days lost from training and/or competition due to injury. RESULTS: The total combined incidence rate for injury during training and match-play across all Australian Super Rugby Union teams was 6.96 per 1000 hours, with a mean injury severity of 37.45 days lost from training and competition. The match-play injury incidence rate was 66.07 per 1000 hours, with a mean severity of 39.80 days lost from training and competition. No significant differences were observed between forward- and back-playing positions for match or training injury incidence rate or severity. CONCLUSION: The incidence of injury for the present study was lower during match-play than has previously been reported in professional rugby union; however, the overall time loss was higher compared with previous studies in professional rugby union. The high overall time loss was due fundamentally to a high incidence of injuries with greater than 28 days’ severity

Hospital readmissions for COPD:a retrospective longitudinal study

Prevention of chronic obstructive pulmonary disease hospital readmissions is an international priority aimed to slow disease progression and limit costs. Evidence of the risk of readmission and of interventions that might prevent it is lacking. We aimed to determine readmission risk for chronic obstructive pulmonary disease, factors influencing that risk, and variation in readmission risk between hospitals across 7.5 million people in London. This retrospective longitudinal observational study included all chronic obstructive pulmonary disease admissions to any hospital in the United Kingdom among patients registered at London general practices who had emergency National Health Service chronic obstructive pulmonary disease hospital admissions between April 2006 and March 2010. Influence of patient characteristics, geographical deprivation score, length of stay, day of week of admission or of discharge, and admitting hospital, were assessed using multiple logistic regression. 38,894 chronic obstructive pulmonary disease admissions of 20,932 patients aged ≥ 45 years registered with London general practices were recorded. 6295 patients (32.2%) had at least one chronic obstructive pulmonary disease readmission within 1 year. 1993 patients (10.2%) were readmitted within 30 days and 3471 patients (17.8%) were readmitted within 90 days. Age and patient geographical deprivation score were very weak predictors of readmission. Rates of chronic obstructive pulmonary disease readmissions within 30 days and within 90 days did not vary among the majority of hospitals. The finding of lower chronic obstructive pulmonary disease readmission rates than was previously estimated and the limited variation in these rates between hospitals suggests that the opportunity to reduce chronic obstructive pulmonary disease readmission risk is small

The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts.

Published onlineJournal ArticleResearch Support, Non-U.S. Gov'tBACKGROUND: Many genetic variants have been associated with susceptibility to complex traits by genome wide association studies (GWAS), but for most, causal genes and mechanisms of action have yet to be elucidated. Using bioinformatics, we identified index and proxy variants associated with autoimmune disease susceptibility, with the potential to affect splicing of candidate genes. PCR and sequence analysis of whole blood RNA samples from population controls was then carried out for the 8 most promising variants to determine the effect of genetic variation on splicing of target genes. RESULTS: We identified 31 splice site SNPs with the potential to affect splicing, and prioritised 8 to determine the effect of genotype on candidate gene splicing. We identified that variants rs11078928 and rs2014886 were associated with altered splicing of the GSDMB and TSFM genes respectively. rs11078928, present in the asthma and autoimmune disease susceptibility locus on chromosome 17q12-21, was associated with the production of a novel Δ exon5-8 transcript of the GSDMB gene, and a separate decrease in the percentage of transcripts with inclusion of exon 6, whereas the multiple sclerosis susceptibility variant rs2014886, was associated with an alternative TFSM transcript encompassing a short cryptic exon within intron 2. CONCLUSIONS: Our findings demonstrate the utility of a bioinformatic approach in identification and prioritisation of genetic variants effecting splicing of their host genes, and suggest that rs11078928 and rs2014886 may affect the splicing of the GSDMB and TSFM genes respectively.Mendip Golf ClubNIHR Exeter Clinical Research Facilit

Training and match volume and injury in adolescents playing multiple contact team sports: a prospective cohort study

Training and competition loads have emerged as valuable injury risk factors but very few studies have explored injury outcomes in adolescent athletes. The aims of this study were to describe injuries and to explore the relationship between training and match load volumes and injury in adolescent athletes participating in multiple contact team sports. One hundred and three male youth rugby athletes aged 14-16 years from 8 rugby union teams were prospectively monitored during a season for weekly training and match volumes and injuries. The relationship between volume and injury was explored by comparing the weekly volume in the week prior to an injury vs weeks without injury. There were 83 time-loss injuries in 58 athletes (62%). Overall injury incidence was 18.5 per 1000 player-hours. Mean weekly injury prevalence was 27% (95% CI 25-30). Average weekly volume was 5.4 (2.2) hours comprising 1.4 (1) match hours and 4 (2.6) training hours. Compared with weeks without injury, weeks prior to an injury had higher match volumes (110 [57] min vs 83 [59] min, P < 0.001). Poisson regression demonstrated that match volume was a predictor of injury with an odds ratio of 1.41 (P = 0.001). The contribution of match volumes to injury risk and the relatively high injury burden in these athletes may be profound. Very high match volumes are unlikely to be in the best interests of young athletes and could be avoided with a systematic approach to load management and athlete development

Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants

This is the final version of the article. Available from the publisher via the DOI in this record.Variation in human lifespan is 20 to 30% heritable in twins but few genetic variants have been identified. We undertook a Genome Wide Association Study (GWAS) using age at death of parents of middle-aged UK Biobank participants of European decent (n=75,244 with father's and/or mother's data, excluding early deaths). Genetic risk scores for 19 phenotypes (n=777 proven variants) were also tested. In GWAS, a nicotine receptor locus(CHRNA3, previously associated with increased smoking and lung cancer) was associated with fathers' survival. Less common variants requiring further confirmation were also identified. Offspring of longer lived parents had more protective alleles for coronary artery disease, systolic blood pressure, body mass index, cholesterol and triglyceride levels, type-1 diabetes, inflammatory bowel disease and Alzheimer's disease. In candidate analyses, variants in the TOMM40/APOE locus were associated with longevity, but FOXO variants were not. Associations between extreme longevity (mother >=98 years, fathers >=95 years, n=1,339) and disease alleles were similar, with an additional association with HDL cholesterol (p=5.7x10-3). These results support a multiple protective factors model influencing lifespan and longevity (top 1% survival) in humans, with prominent roles for cardiovascular-related pathways. Several of these genetically influenced risks, including blood pressure and tobacco exposure, are potentially modifiable.This work was generously funded by an award to DM, TF, AM, LH and CB by the Medical Research Council MR/M023095/1. This research has been conducted using the UK Biobank Resource, under application 1417. The authors wish to thank the UK Biobank participants and coordinators for this unique dataset. S.E.J. is funded by the Medical Research Council (grant: MR/M005070/1). J.T. is funded by a Diabetes Research and Wellness Foundation Fellowship. R.B. is funded by the Wellcome Trust and Royal Society grant: 104150/Z/14/Z. M.A.T., M.N.W. and A.M. are supported by the Wellcome Trust Institutional Strategic Support Award (WT097835MF). R.M.F. is a Sir Henry Dale Fellow (Wellcome Trust and Royal Society grant: 104150/Z/14/Z). A.R.W. H.Y., and T.M.F. are supported by the European Research Council grant: 323195:GLUCOSEGENES-FP7-IDEAS-ERC. The funders had no influence on study design, data collection and analysis, decision to publish, or preparation of the manuscript. The Framingham Heart Study is supported by Contract No. N01-HC-25195 and HHSN268201500001I and its contract with Affymetrix, Inc for genotyping services (Contract No. N02-HL-6-4278). The phenotypegenotype association analyses were supported by National Institute of Aging R01AG29451. This work has made use of the resources provided by the University of Exeter Science Strategy and resulting Systems Biology initiative. Primarily these include high-performance computing facilities managed by Konrad Paszkiewicz of the College of Environmental and Life Sciences and Pete Leggett of the University of Exeter Academics services unit

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association

The identification of multiple signals at individual loci could explain additional phenotypic variance (‘missing heritability’) of common traits, and help identify causal genes. We examined gene expression levels as a model trait because of the large number of strong genetic effects acting in cis. Using expression profiles from 613 individuals, we performed genome-wide single nucleotide polymorphism (SNP) analyses to identify cis-expression quantitative trait loci (eQTLs), and conditional analysis to identify second signals. We examined patterns of association when accounting for multiple SNPs at a locus and when including additional SNPs from the 1000 Genomes Project. We identified 1298 cis-eQTLs at an approximate false discovery rate 0.01, of which 118 (9%) showed evidence of a second independent signal. For this subset of 118 traits, accounting for two signals resulted in an average 31% increase in phenotypic variance explained (Wilcoxon P< 0.0001). The association of SNPs with cis gene expression could increase, stay similar or decrease in significance when accounting for linkage disequilibrium with second signals at the same locus. Pairs of SNPs increasing in significance tended to have gene expression increasing alleles on opposite haplotypes, whereas pairs of SNPs decreasing in significance tended to have gene expression increasing alleles on the same haplotypes. Adding data from the 1000 Genomes Project showed that apparently independent signals could be potentially explained by a single association signal. Our results show that accounting for multiple variants at a locus will increase the variance explained in a substantial fraction of loci, but that allelic heterogeneity will be difficult to define without resequencing loci and functional work

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

types: JOURNAL ARTICLEMutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Autosomal dominant idiopathic Fanconi syndrome (a renal proximal tubulopathy) is described but no genetic cause has been defined.This article presents independent research supported by the National Institute for Health Research (NIHR) Exeter Clinical Research Facility. The research is funded by a Wellcome Trust Senior Investigator Award, (grant number 098395/Z/12/Z).Wellcome Trus