1,165 research outputs found

    Aproximación a la identificación de proteinas diferencialmente expresadas en enfermedades de depósito lisosomal.

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    CO-138 Introducción: Las esfingolipidosis son enfermedades de depósito lisosomal (EDL) caracterizadas por una alteración en el transporte y metabolización de lípidos en el lisosoma y su subsecuente acumulación en el interior de este orgánulo. Son enfermedades de baja prevalencia y mayoritariamente de herencia autosómica recesiva con una gran variabilidad clínica que provoca que, a pesar de poder diagnosticarse en edad pediátrica, hasta en un 40% el diagnóstico se demora hasta la edad adulta. La enfermedad de Gaucher (EG) es la más común entre las EDL, pero también se encuentran otras esfingolipidosis como el déficit de esfingomielinasa ácida (DEMA), la enfermedad de Niemann-Pick tipo C (NPC) en la que el acúmulo de esfingolípidos es secundario a la disfunción lisosomal, o el déficit de lipasa ácida lisosomal (DLAL). En todas ellas existe un importante componente inflamatorio que se traduce en algunos casos por el incremento de inmunoglobulinas o la presencia de gammapatías monoclonales. Se ha prestado poca atención y estudiado escasamente la distribución de las diferentes proteínas séricas en estas entidades. ..

    Nuclear parton distributions at next to leading order

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    We perform a next to leading order QCD global analysis of nuclear deep inelastic scattering and Drell-Yan data using the convolution approach to parameterize nuclear parton densities. We find both a significant improvement in the agreement with data compared to previous extractions, and substantial differences in the scale dependence of nuclear effects compared to leading order analyses.Comment: 9 pages, 10 figure

    Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

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    Mutations of both nuclear and mitochondrial DNA (mtDNA)-encoded mitochondrial proteins can cause cardiomyopathy associated with mitochondrial dysfunction. Hence, the cardiac phenotype of nuclear DNA mitochondrial mutations might be modulated by mtDNA variation. We studied a 13-generation Mennonite pedigree with autosomal recessive myopathy and cardiomyopathy due to an SLC25A4 frameshift null mutation (c.523delC, p.Q175RfsX38), which codes for the heart-muscle isoform of the adenine nucleotide translocator-1. Ten homozygous null (adenine nucleotide translocator-1(-/-)) patients monitored over a median of 6 years had a phenotype of progressive myocardial thickening, hyperalaninemia, lactic acidosis, exercise intolerance, and persistent adrenergic activation. Electrocardiography and echocardiography with velocity vector imaging revealed abnormal contractile mechanics, myocardial repolarization abnormalities, and impaired left ventricular relaxation. End-stage heart disease was characterized by massive, symmetric, concentric cardiac hypertrophy; widespread cardiomyocyte degeneration; overabundant and structurally abnormal mitochondria; extensive subendocardial interstitial fibrosis; and marked hypertrophy of arteriolar smooth muscle. Substantial variability in the progression and severity of heart disease segregated with maternal lineage, and sequencing of mtDNA from five maternal lineages revealed two major European haplogroups, U and H. Patients with the haplogroup U mtDNAs had more rapid and severe cardiomyopathy than those with haplogroup H

    The effect of spontaneous collapses on neutrino oscillations

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    We compute the effect of collapse models on neutrino oscillations. The effect of the collapse is to modify the evolution of the `spatial' part of the wave function, which indirectly amounts to a change on the flavor components. In many respects, this phenomenon is similar to neutrino propagation through matter. For the analysis we use the mass proportional CSL model, and perform the calculation to second order perturbation theory. As we will show, the CSL prediction is very small - mainly due to the very small mass of neutrinos - and practically undetectable.Comment: 24 pages, RevTeX. Updated versio

    Cosmological Effects of Radion Oscillations

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    We show that the redshift of pressureless matter density due to the expansion of the universe generically induces small oscillations in the stabilized radius of extra dimensions (the radion field). The frequency of these oscillations is proportional to the mass of the radion and can have interesting cosmological consequences. For very low radion masses mbm_b (mb10100H01032eVm_b\sim10-100 H_0\simeq10^{-32} eV) these low frequency oscillations lead to oscillations in the expansion rate of the universe. The occurrence of acceleration periods could naturally lead to a resolution of the coincidence problem, without need of dark energy. Even though this scenario for low radion mass is consistent with several observational tests it has difficulty to meet fifth force constraints. If viewed as an effective Brans-Dicke theory it predicts ω=1+1D\omega=-1+\frac{1}{D} (DD is the number of extra dimensions), while experiments on scales larger than 1mm1mm imply ω>2500\omega>2500. By deriving the generalized Newtonian potential corresponding to a massive toroidally compact radion we demonstrate that Newtonian gravity is modified only on scales smaller than mb1m_b^{-1}. Thus, these constraints do not apply for mb>103eVm_b>10^{-3} eV (high frequency oscillations) corresponding to scales less than the current experiments (0.3mm0.3mm). Even though these high frequency oscillations can not resolve the coincidence problem they provide a natural mechanism for dark matter generation. This type of dark matter has many similarities with the axion.Comment: Accepted in Phys. Rev. D. Clarifying comments added in the text and some additional references include

    The relative age effect on physical fitness in preschool children

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    The aim of the present study was to investigate the existence of a relative age effect (RAE) on physical fitness of preschoolers. Anthropometry and physical fitness were assessed in 3147 children (3–5 years old) using the PREFIT battery. Based on the birth year, participants were divided into 3year groups (3-, 4- and 5-years). Within each year group, 4quarter groups were created: quarter 1, preschoolers born from January to March; quarter 2, from April to June; quarter 3, from July to September; quarter 4, from October to December. The MANCOVA analysis revealed a main effect of year group (Wilks’ ¿ = 0.383; F10, 5996 = 369.64; p < 0.001, ¿p 2 = 0.381) and of quarter (Wilks’ ¿ = 0.874; F15, 8276.6 = 27.67; p < 0.001; ¿p 2 = 0.044) over the whole battery of tests. To the best of our knowledge, this is the first study to report the existence of RAE at the preschool stage. In general, performance improved as the relative age increased (i.e., those born in quarter 1 performed better than those in the other quarters). Individualization strategies should be addressed within the same academic year not only in elementary or secondary years but also in preschoolers

    Event Shape/Energy Flow Correlations

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    We introduce a set of correlations between energy flow and event shapes that are sensitive to the flow of color at short distances in jet events. These correlations are formulated for a general set of event shapes, which includes jet broadening and thrust as special cases. We illustrate the method for electron-positron annihilation dijet events, and calculate the correlation at leading logarithm in the energy flow and at next-to-leading-logarithm in the event shape.Comment: 43 pages, eight eps figures; minor changes, references adde
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