66 research outputs found

    HOW HAVE MUSICIANS’ CAREERS CHANGED IN THE DIGITAL PLATFORM ERA?

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    openLa "platform society" è una realtà. O meglio, una seconda realtà che si aggiunge e si sovrappone alla dimensione fisica. Ciò vale anche per l'industria musicale. Gli ulitmi quindici anni hanno visto la crescita di piattaforme di streaming musicale come Spotify, con il conseguente riposizionamento dei vari attori coinvolti nell'industria e del relativo sistema economico. Per i musicisti, il nuovo scenario apre a nuove possibilità e pone nuove sfide.The platform society is a reality. Better said, it is a second reality that adds and intertwines with the physical dimension. This is so also for the music industry. The last fifteen years have seen the growth of music streaming platforms such as Spotify and the consequent repositioning of actors and revolution of the music economy. The new scenario opens up new possibilities and poses new challenges to musicians' careers

    A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

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    NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I. Mutations in in the X-linked nuclear encoded NDUFB11 gene have recently been discovered in association with two distinct phenotypes, i.e. microphthalmia with linear skin defects and histiocytoid cardiomyopathy. We report on a male with complex I deficiency, caused by a de novo mutation in NDUFB11 and displaying early onset sideroblastic anemia as the unique feature. This is the third report that describes a mutation in NDUFB11 but all are associated to a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of NDUFB11 defects

    The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells

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    CLN1 disease (OMIM # 256730) is an early childhood ceroid-lipofuscinosis associated with mutated CLN1, whose product Palmitoyl-Protein Thioesterase 1 (PPT1) is a lysosomal enzyme involved in the removal of palmitate residues from S-acylated proteins. In neurons, PPT1 expression is also linked to synaptic compartments. The aim of this study was to unravel molecular signatures connected to CLN1. We utilized SH-SY5Y neuroblastoma cells overexpressing wild type CLN1 (SH-p. wtCLN1) and five selected CLN1 patients' mutations. The cellular distribution of wtPPT1 was consistent with regular processing of endogenous protein, partially detected inside Lysosomal Associated Membrane Protein 2 (LAMP2) positive vesicles, while the mutants displayed more diffuse cytoplasmic pattern. Transcriptomic profiling revealed 802 differentially expressed genes (DEGs) in SH-p. wtCLN1 (as compared to empty-vector transfected cells), whereas the number of DEGs detected in the two mutants (p. L222P and p. M57Nfs * 45) was significantly lower. Bioinformatic scrutiny linked DEGs with neurite formation and neuronal transmission. Specifically, neuritogenesis and proliferation of neuronal processes were predicted to be hampered in the wtCLN1 overexpressing cell line, and these findings were corroborated by morphological investigations. Palmitoylation survey identified 113 palmitoylated protein-encoding genes in SH-p. wtCLN1, including 25 ones simultaneously assigned to axonal growth and synaptic compartments. A remarkable decrease in the expression of palmitoylated proteins, functionally related to axonal elongation (GAP43, CRMP1 and NEFM) and of the synaptic marker SNAP25, specifically in SH-p. wtCLN1 cells was confirmed by immunoblotting. Subsequent, bioinformatic network survey of DEGs assigned to the synaptic annotations linked 81 DEGs, including 23 ones encoding for palmitoylated proteins. Results obtained in this experimental setting outlined two affected functional modules (connected to the axonal and synaptic compartments), which can be associated with an altered gene dosage of wtCLN1. Moreover, these modules were interrelated with the pathological effects associated with loss of PPT1 function, similarly as observed in the Ppt1 knockout mice and patients with CLN1 disease.Peer reviewe

    Revisiting the Body-Schema Concept in the Context of Whole-Body Postural-Focal Dynamics

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    The body-schema concept is revisited in the context of embodied cognition, further developing the theory formulated by Marc Jeannerod that the motor system is part of a simulation network related to action, whose function is not only to shape the motor system for preparing an action (either overt or covert) but also to provide the self with information on the feasibility and the meaning of potential actions. The proposed computational formulation is based on a dynamical system approach, which is linked to an extension of the equilibrium-point hypothesis, called Passive Motor Paradigm: this dynamical system generates goal-oriented, spatio-temporal, sensorimotor patterns, integrating a direct and inverse internal model in a multi-referential framework. The purpose of such computational model is to operate at the same time as a general synergy formation machinery for planning whole-body actions in humanoid robots and/or for predicting coordinated sensory–motor patterns in human movements. In order to illustrate the computational approach, the integration of simultaneous, even partially conflicting tasks will be analyzed in some detail with regard to postural-focal dynamics, which can be defined as the fusion of a focal task, namely reaching a target with the whole-body, and a postural task, namely maintaining overall stability

    A hybrid frame of reference for visuo-manual coordination

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    Visuo-kinesthetic matching of the orientation of an object in three-dimensional space has been studied by asking normal human subjects to align their unseen hand in parallel to the perceived orientation of a virtual stereoscopic object. Systematic errors were found for all three degrees of freedom of object orientation. These errors were much reduced when vision of the hand was allowed. The analysis of the distribution of the directional components of the errors revealed that matching performance without view of the hand was biased in a preferred direction that coincides with neither anatomical axes of the hand nor earth-fixed axes of visual space, but is intermediate between hand space and visual space. This suggests that a hybrid frame of reference is constructed by combining parallel multisensory information

    Time-varying mechanical behavior of multijointed arm in man

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    1. The aim of this study was to describe the time-varying changes in the mechanical parameters of a multijointed limb. The parameters we considered are the coefficients of stiffness, viscosity, and inertia. Continuous pseudorandom perturbations were applied at the elbow joint during a catching task. A modified version of an ensemble technique was used for the identification of time-varying parameters. Torques at the elbow and wrist joints were then modeled with a linear combination of the changes in angular position and velocity weighted by the matrix of angular stiffness and the matrix of angular viscosity, respectively. Control experiments were also performed that involved the stationary maintenance of a given limb posture by resisting actively the applied perturbations. Different limb postures were examined in each such experiment to investigate the dependence of the mechanical parameters on limb geometry. 2. The technique for the identification of limb mechanical parameters proved adequate. The input perturbations applied at the elbow joint elicited angular oscillations at the wrist essentially uncorrelated with those produced at the elbow. The frequency of oscillation is much higher at the wrist than at the elbow, mainly because of the smaller inertia. The variance accounted for by the model was approximately 80% under both stationary and time-varying conditions; in the latter case the value did not vary significantly throughout the task. In addition, the model predicted values of the inertial parameters that were close to the anthropometric measures, and it reproduced the stepwise increase in limb inertia that occurs at the time the ball is held in the hand. 3. The values of angular stiffness and viscosity estimated under stationary conditions did not vary significantly with joint angle, in agreement with previous results obtained under quasi-static postural conditions. The matrix of the coefficients of angular stiffness was not symmetrical, indicating a prominent role for nonautogenic reflex feedbacks with unequal gains for elbow and wrist muscles. 4. A complex temporal modulation of angular stiffness and viscosity was observed during the catching task. The changes in the direct coefficients of angular stiffness tended to covary with those in the coupling coefficients from trial start up to approximately 30 ms before impact time. Around impact time, however, there was a complete dissociation: the direct terms peaked, whereas the coupling terms dropped. The direct terms of angular viscosity also increased before impact, whereas the viscosity coupling terms remained close to zero throughout.(ABSTRACT TRUNCATED AT 400 WORDS

    Transient reversal of the stretch reflex in human arm muscles

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    1. Load perturbation responses can violate the law of reciprocal innervation between antagonist muscles under particular conditions. Thus flexor and extensor muscles of wrist and elbow joints are reflexly coactivated by the impact of a ball on the hand during a catching task. The aim of this study was to determine whether reflex coactivation can be preset within the central nervous system (CNS) or whether it is entirely due to the peripheral stimulus. To this end, we studied the behavior of stretch reflex responses of arm muscles evoked by torque motor perturbations applied before and during the catching task. 2. Subjects were instructed to catch a ball dropped from 1.6 m. A torque motor delivered perturbations to the elbow joint, resulting in angular motion at both elbow and wrist joints because of their dynamic mechanical coupling. Two series of experiments were performed that differed in the perturbation waveform. In the first series, a single torque pulse could be randomly applied at different times during the task. The corresponding responses were recovered by subtracting the average of the unperturbed trials from the averages of perturbed trials. In the second series of experiments, a train of pseudorandom pulses was applied continuously during each trial. The time-varying impulse responses were computed at 20-ms intervals by cross-correlation methods. 3. The pattern of the short-latency electromyographic responses evoked by either single pulses or pseudorandom perturbations obeyed the law of reciprocal innervation of antagonist muscles under basal conditions. However, the pattern of the responses evoked by the same perturbations around the time of ball impact on the hand consisted of a substantial coactivation of both stretched and shortening muscles. Reflex coactivation resulted from response patterns that differed at different joints. At the elbow, reflex coactivation resulted from a transient reversal of the direction of the short-latency responses of flexor muscles, with little changes of the responses of extensor muscles. At the wrist, instead, reflex coactivation resulted from simultaneous changes in the response waveform of both flexor and extensor muscles. 4. The peripheral conditions associated with the applied perturbations were constant before the time of ball impact. Thus, because the changes of the stretch reflex responses began before that time, they must have been generated within the CNS. It is here hypothesized that the reversal of the reflex responses is centrally gated by switching from the pathways of reciprocal inhibition to those of coactivation of antagonist alpha-motoneurons.(ABSTRACT TRUNCATED AT 400 WORDS
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