1,000 research outputs found

    Cluster Analysis of Differential Spectral Envelopes on Emotional Speech

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    This paper reports on the analysis of the spectral variation of emotional speech. Spectral envelopes of time aligned speech frames are compared between emotionally neutral and active utterances. Statistics are computed over the resulting differential spectral envelopes for each phoneme. Finally, these statistics are classified using agglomerative hierarchical clustering and a measure of dissimilarity between statistical distributions and the resulting clusters are analysed. The results show that there are systematic changes in spectral envelopes when going from neutral to sad or happy speech, and those changes depend on the valence of the emotional content (negative, positive) as well as on the phonetic properties of the sounds such as voicing and place of articulation

    Analisi gerarchica degli inviluppi spettrali differenziali di una voce emotiva

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    .In questo articolo viene descritto un nuovo metodo di analisi del timbro vocale tramite lo studio delle variazioni di inviluppo spettrale utilizzato da uno stesso parlatore in situazioni emotiva neutra o espressiva. Il contesto dell\u27analisi riguarda un corpus di un solo parlatore istruito a leggere una serie di frasi utilizzando uno stile di lettura neutro e successivamente utilizzando due modalit? emotive: uno stile allegro e uno stile triste. Gli inviluppi spettrali relativi alle versioni allineate delle realizzazioni vocali neutre e espressive (allegra e triste) sono confrontati utilizzando un metodo differenziale. Le differenze sono state calcolate tra lo stato emotivo e quello neutro, di conseguenza le due categorie messe a confronto sono neutro-allegro e neutro-triste. La statistica degli inviluppi differenziali ? stata calcolata per ogni fono. I dati sono stati esaminati utilizzando un metodo di clustering gerarchico di tipo agglomerativo. I cluster risultanti sono avvalorati con diverse misure di distanza tra le distribuzioni statistiche ed esplorati visivamente per trovare similitudini e differenze tra le due categorie. I risultati mettono in evidenza sistematiche variazioni nel timbro vocale relative ai due insiemi di differenze di inviluppi spettrali. Questi tratti dipendono dalla valenza dell\u27emozione presa in considerazione (positiva, negativa) come dalle propriet? fonetiche del particolare fono come ad esempio sonorit? e luogo di articolazione

    A Data-Driven Approach to Violin Making

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    Of all the characteristics of a violin, those that concern its shape are probably the most important ones, as the violin maker has complete control over them. Contemporary violin making, however, is still based more on tradition than understanding, and a definitive scientific study of the specific relations that exist between shape and vibrational properties is yet to come and sorely missed. In this article, using standard statistical learning tools, we show that the modal frequencies of violin tops can, in fact, be predicted from geometric parameters, and that artificial intelligence can be successfully applied to traditional violin making. We also study how modal frequencies vary with the thicknesses of the plate (a process often referred to as {\em plate tuning}) and discuss the complexity of this dependency. Finally, we propose a predictive tool for plate tuning, which takes into account material and geometric parameters

    Root system architecture phenotyping of durum wheat reveals differential selection for a major QTL in contrasting environments

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    This study reports the characterization of 183 elite durum wheat (Triticum turgidum ssp. durum Desf.) for RSA and shoot developmental traits. Plants were grown in controlled conditions up to the 7th leaf appearance (late tillering) using the phenotyping platform GROWSCREEN-Rhizo at the Institut f\ufcr Bio und Geowissenschaften Pflanzenwissenschaften

    Conservation of AtTZF1, AtTZF2, and AtTZF3 homolog gene regulation by salt stress in evolutionarily distant plant species

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    Arginine-rich tandem zinc-finger proteins (RR-TZF) participate in a wide range of plant developmental processes and adaptive responses to abiotic stress, such as cold, salt and drought. This study investigates the conservation of the genes AtTZF1-5 at the level of their sequences and expression across plant species. The genomic sequences of the two RR-TZF genes TdTZF1-A and TdTZF1-B were isolated in durum wheat and assigned to chromosomes 3A and 3B, respectively. Sequence comparisons revealed that they encode proteins that are highly homologous to AtTZF1, AtTZF2 and AtTZF3. The expression profiles of these RR-TZF durum wheat and Arabidopsis proteins support a common function in the regulation of seed germination and responses to abiotic stress. In particular, analysis of plants with attenuated and overexpressed AtTZF3 indicate that AtTZF3 is a negative regulator of seed germination under conditions of salt stress. Finally, comparative sequence analyses establish that the RR-TZF genes are encoded by lower plants, including the bryophyte Physcomitrella patens and the alga Chlamydomonas reinhardtii. The regulation of the Physcomitrella AtTZF1-2-3-like genes by salt stress strongly suggests that a subgroup of the RR-TZF proteins has a function that has been conserved throughout evolution

    SNPLims: a data management system for genome wide association studies

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    <p>Abstract</p> <p>Background</p> <p>Recent progresses in genotyping technologies allow the generation high-density genetic maps using hundreds of thousands of genetic markers for each DNA sample. The availability of this large amount of genotypic data facilitates the whole genome search for genetic basis of diseases.</p> <p>We need a suitable information management system to efficiently manage the data flow produced by whole genome genotyping and to make it available for further analyses.</p> <p>Results</p> <p>We have developed an information system mainly devoted to the storage and management of SNP genotype data produced by the Illumina platform from the raw outputs of genotyping into a relational database.</p> <p>The relational database can be accessed in order to import any existing data and export user-defined formats compatible with many different genetic analysis programs.</p> <p>After calculating family-based or case-control association study data, the results can be imported in SNPLims. One of the main features is to allow the user to rapidly identify and annotate statistically relevant polymorphisms from the large volume of data analyzed. Results can be easily visualized either graphically or creating ASCII comma separated format output files, which can be used as input to further analyses.</p> <p>Conclusions</p> <p>The proposed infrastructure allows to manage a relatively large amount of genotypes for each sample and an arbitrary number of samples and phenotypes. Moreover, it enables the users to control the quality of the data and to perform the most common screening analyses and identify genes that become “candidate” for the disease under consideration.</p

    Long-term follow-up in common variable immunodeficiency: the pediatric-onset and adult-onset landscape

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    IntroductionThe primary aim of this study is to investigate the evolution of the clinical and laboratory characteristics during the time in a longitudinal cohort of pediatric-onset and adult-onset Common Variable Immunodeficiency (CVID) patients in order to identify early predictive features of the disease and immune dysregulation complications.MethodsThis is a retrospective-prospective monocentric longitudinal study spanning from 1984 to the end of 2021. The data of pediatric-onset vs. adult-onset patients have been compared for immunological features and for infectious and non-infectious complications assessed at diagnosis and follow-up.ResultsSeventy-three CVID patients have been enrolled, with a mean of 10.0 years (SD ± 8.17) of prospective follow-up. At diagnosis, infections were observed in 89.0% of patients and immune dysregulation in 42.5% of patients. At diagnosis, 38.6% of pediatric-onset and 20.7% of adult-onset patients presented with only infections. Polyclonal lymphoid proliferation (62.1%) and autoimmunity (51.7%) were more prevalent in the adult-onset than in the pediatric-onset group (polyclonal lymphoid proliferation 52.3% and autoimmunity 31.8%, respectively). Enteropathy was present in 9.1% of pediatric-onset and 17.2% of adult-onset patients. The prevalence of polyclonal lymphoid proliferation increased during follow-up more in pediatric-onset patients (diagnosis 52.3%—follow-up 72.7%) than in adult-onset patients (diagnosis 62.1%—follow-up 72.7%). The cumulative risk to develop immune dysregulation increases according to the time of disease and the time of diagnostic delay. At the same age, pediatric-onset patients have roughly double the risk of having a complication due to immune dysregulation than adult-onset patients, and it increases with diagnostic delay. The analysis of lymphocyte subsets in the pediatric-onset group showed that CD21 low B cells at diagnosis may be a reliable prognostic marker for the development of immune dysregulation during follow-up, as the ROC curve analysis showed (AUC = 0.796). In the adult-onset group, the percentage of transitional B cells measured at diagnosis showed a significant accuracy (ROC AUC = 0.625) in identifying patients at risk of developing immune dysregulation.DiscussionThe longitudinal evaluation of lymphocyte subsets combined with clinical phenotype can improve the prediction of lymphoid proliferation and allow experts to achieve early detection and better management of such complex disorder

    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

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    Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis

    The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations

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    Background: Data from published studies about the effect of HFE polymorphisms on ALS risk, phenotype, and survival are still inconclusive. We aimed at evaluating whether the p.H63D polymorphism is a modifier of phenotype and survival in SOD1-mutated patients. Methods: We included 183 SOD1-mutated ALS patients. Mutations were classified as severe or mild according to the median survival of the study population. Patients were screened for the HFE p.H63D polymorphism. Survival was calculated using the Kaplan-Meier modeling, and differences were measured by the log-rank test. Multivariable analysis was performed with the Cox proportional hazards model (stepwise backward). Results: SOD1 severe mutation carriers show more frequent familial history for ALS and shorter survival compared to mild mutation carriers. Carriers and non-carriers of the p.H63D polymorphism did not differ in terms of sex ratio, frequency of positive familial history, age at onset, and bulbar/spinal ratio. In univariate and in Cox multivariable analysis using sex, age at onset, site of onset, family history, country of origin, and mutation severity as covariates, p.H63D carriers had a longer survival (p = 0.034 and p = 0.004). Conclusions: We found that SOD1-mutated ALS patients carrying the p.H63D HFE polymorphism have a longer survival compared to non-carriers, independently of sex, age and site of onset, family history, nation of origin, and severity of mutations, suggesting a possible role as disease progression modifier for the p.H63D HFE polymorphism in SOD1-ALS
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