An orientation experiment using auditory artificial horizon

Presented at the 10th International Conference on Auditory Display (ICAD2004)An orientation experiment was carried out in a spatially immersive virtual environment. The task of subjects was to navigate with 6 degrees of freedom flying method through a predefined route guided by visual cues. Simultaneously they should keep the model oriented in upright position as well as possible. In the experiment we had three different implementations of auditory artificial horizon, and for the reference the subjects accomplish the task also without the auditory support. According to the results the auditory artificial horizon helps subjects to keep the model oriented during the task

Reducing reversal errors in localizing the source of sound in virtual environment without head tracking

International audienceThis paper presents a study about the effect of using additional audio cueing and Head-Related Transfer Function (HRTF) on human performance in sound source localization task without using head movement. The existing techniques of sound spatialization generate reversal errors. We intend to reduce these errors by introducing sensory cues based on sound effects. We conducted and experimental study to evaluate the impact of additional cues in sound source localization task. The results showed the benefit of combining the additional cues and HRTF in terms of the localization accuracy and the reduction of reversal errors. This technique allows significant reduction of reversal errors compared to the use of the HRTF separately. For instance, this technique could be used to improve audio spatial alerting, spatial tracking and target detection in simulation applications when head movement is not included

Copy Number Analysis of Complement C4A, C4B and C4A Silencing Mutation by Real-Time Quantitative Polymerase Chain Reaction

Peer reviewe

Diversity of Extended HLA-DRB1 Haplotypes in the Finnish Population

Peer reviewe

A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease

Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is largely based on genome-wide association studies (GWAS) analysis of common SNPs. Leveraging phased haplotypes from the 1000 Genomes Project, we report a GWAS meta-analysis of 185 thousand CAD cases and controls, interrogating 6.7 million common (MAF>0.05) as well as 2.7 million low frequency (0.005<MAF<0.05) variants. In addition to confirmation of most known CAD loci, we identified 10 novel loci, eight additive and two recessive, that contain candidate genes that newly implicate biological processes in vessel walls. We observed intra-locus allelic heterogeneity but little evidence of low frequency variants with larger effects and no evidence of synthetic association. Our analysis provides a comprehensive survey of the fine genetic architecture of CAD showing that genetic susceptibility to this common disease is largely determined by common SNPs of small effect siz

Clinical features of patients with homozygous complement C4A or C4B deficiency

Introduction Homozygous deficiencies of complement C4A or C4B are detected in 1-10% of populations. In genome-wide association studies C4 deficiencies are missed because the genetic variation of C4 is complex. There are no studies where the clinical presentation of these patients is analyzed. This study was aimed to characterize the clinical features of patients with homozygous C4A or C4B deficiency. Material and methods Thirty-two patients with no functional C4A, 87 patients with no C4B and 120 with normal amount of C4 genes were included. C4A and C4B numbers were assessed with genomic quantitative real-time PCR. Medical history was studied retrospectively from patients' files. Results Novel associations between homozygous C4A deficiency and lymphoma, coeliac disease and sarcoidosis were detected. These conditions were present in 12.5%, (4/32 in patients vs. 0.8%, 1/120, in controls, OR = 17.00, 95%Cl = 1.83-158.04, p = 0.007), 12.5% (4/32 in patients vs. 0%, 0/120 in controls, OR = 1.14, 95%Cl = 1.00-1.30, p = 0.002) and 12.5%, respectively (4/32 in patients vs. 2.5%, 3/120 in controls, OR = 5.571, 95%Cl = 1.79-2.32, p = 0.036). In addition, C4A and C4B deficiencies were both associated with adverse drug reactions leading to drug discontinuation (34.4%, 11/32 in C4A-deficient patients vs. 14.2%, 17/120 in controls, OR = 3.174, 95%Cl = 1.30-7.74, p = 0.009 and 28.7%, 25/87 in C4B-deficient patients, OR = 2.44, 95%Cl = 1.22-4.88, p = 0.010). Conclusion This reported cohort of homozygous deficiencies of C4A or C4B suggests that C4 deficiencies may have various unrecorded disease associations. C4 gene should be considered as a candidate gene in studying these selected disease associations.Peer reviewe

Caracterização da qualidade acústica de salas de aula para prática e ensino musical

Resumo O músico necessita perceber adequadamente o som nos recintos destinados ao estudo e prática musical, o que é possível quando estes locais estão acusticamente preparados e permitem o desenvolvimento e aprimoramento da percepção sonora musical. Neste trabalho três salas de estudo e três salas de aula coletiva, destinadas ao ensino e prática de Música de uma universidade, foram caracterizadas acusticamente através da opinião dos músicos usuários e de medições da sua resposta impulsiva. As salas descritas pelos músicos como secas tiveram, nas bandas de frequência de oitava de 500 a 1000 Hz, um Tempo de Reverberação em torno de 0,3 segundos, entre 14 e 22 dB de Clareza e entre 88% a 96% de Definição. As salas caracterizadas como reverberantes tiveram um tempo ao redor de 1,5 segundos, Clareza de 1 dB e Definição de 40%. A opinião dos músicos permitiu compreender as preferências da qualidade acústica das salas e as informações fornecidas pelos músicos se mostraram coerentes com os dados das medições

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.