3,590 research outputs found

    Spinocerebellar Ataxia Type 6.

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    Photometric structure of the peculiar galaxy ESO 235-G58

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    We present the near-infrared and optical properties of the peculiar galaxy ESO 235-G58, which resembles a late-type ringed barred spiral seen close to face-on. However, the apparent bar of ESO 235-G58 is in reality an edge-on disk galaxy of relatively low luminosity. We have analyzed the light and color distributions of ESO 235-G58 in the NIR and optical bands and compared them with the typical properties observed for other morphological galaxy types, including polar ring galaxies. Similar properties are observed for ESO 235-G58, polar ring galaxies, and spiral galaxies, which leads us to conclude that this peculiar system is a polar-ring-related galaxy, characterized by a low inclined ring/disk structure, as pointed out by Buta & Crocker in an earlier study, rather than a barred galaxy.Comment: 16 pages, 15 figures, accepted for publication in Astronomy & Astrophysic

    Ganglion cell complex analysis in glaucoma patients: what can it tell us?

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    Glaucoma is a group of optic neuropathies characterized by a progressive degeneration of retina ganglion cells (RGCs) and their axons that precedes functional changes detected on the visual field. The macular ganglion cell complex (GCC), available in commercial Fourier-domain optical coherence tomography, allows the quantification of the innermost retinal layers that are potentially involved in the glaucomatous damage, including the retinal nerve fiber (RNFL), ganglion cell and inner plexiform layers. The average GCC thickness and its related parameters represent a reliable biomarker in detecting preperimetric glaucomatous damage. The most accurate GCC parameters are represented by average and inferior GCC thicknesses, and they can be associated with progressive visual field loss. Although the diagnostic accuracy increases with more severe glaucomatous damage and higher signal strength values, it is not affected by increasing axial length, resulting in a more accurate discrimination of glaucomatous damage in myopic eyes with respect to the traditional RNFL thickness. The analysis of the structure-function relationship revealed a good agreement between the loss in retinal sensitivity and GCC thickness. The use of a 10-2° visual field grid, adjusted for the anatomical RGCs displacement, describes more accurately the relationship between RGCs thickness and visual field sensitivity loss

    Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice

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    Loss of function mutations of the CACNA1A gene, coding for the α1A subunit of P/Q type voltage-gated calcium channel (Ca(V)2.1), are responsible for Episodic Ataxia type 2 (EA2), an autosomal dominant disorder. A dominant negative effect of the EA2 mutated protein, rather than a haploinsufficiency mechanism, has been hypothesised both for protein-truncating and missense mutations. We analysed the cacna1a mRNA expression in leaner mice carrying a cacna1a mutation leading to a premature stop codon. The results showed a very low mutant mRNA expression compared to the wild type allele. Although the mutant mRNA slightly increases with age, its low level is likely due to degradation by nonsense mediated decay, a quality control mechanism that selectively degrades mRNA harbouring premature stop codons. These data have implications for EA2 in humans, suggesting a haploinsufficiency mechanism at least for some of the CACNA1A mutations leading to a premature stop codon

    The Fornax Deep Survey with VST. I. The extended and diffuse stellar halo of NGC~1399 out to 192 kpc

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    [Abrigded] We have started a new deep, multi-imaging survey of the Fornax cluster, dubbed Fornax Deep Survey (FDS), at the VLT Survey Telescope. In this paper we present the deep photometry inside two square degrees around the bright galaxy NGC1399 in the core of the cluster. We found a very extended and diffuse envelope surrounding the luminous galaxy NGC1399: we map the surface brightness out to 33 arcmin (~ 192 kpc) from the galaxy center and down to about 31 mag/arcsec^2 in the g band. The deep photometry allows us to detect a faint stellar bridge in the intracluster region between NGC1399 and NGC1387. By analyzing the integrated colors of this feature, we argue that it could be due to the ongoing interaction between the two galaxies, where the outer envelope of NGC1387 on its east side is stripped away. By fitting the light profile, we found that it exists a physical break radius in the total light distribution at R=10 arcmin (~58 kpc) that sets the transition region between the bright central galaxy and the outer exponential stellar halo. We discuss the main implications of this work on the build-up of the stellar halo at the center of the Fornax cluster. By comparing with the numerical simulations of the stellar halo formation for the most massive BCGs, we find that the observed stellar halo mass fraction is consistent with a halo formed through the multiple accretion of progenitors with a stellar mass in the range 10^8 - 10^11 M_sun. This might suggest that the halo of NGC1399 has also gone through a major merging event. The absence of a significant number of luminous stellar streams and tidal tails out to 192 kpc suggests that the epoch of this strong interaction goes back to an early formation epoch. Therefore, differently from the Virgo cluster, the extended stellar halo around NGC1399 is characterised by a more diffuse and well-mixed component, including the ICL.Comment: Accepted for publication in ApJ; 25 pages and 14 figures. An higher resolution file is available at the following link https://www.dropbox.com/s/fvltppduysdn6pb/NGC1399_fin_2c.pdf?dl=

    Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1

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    The amino acid hypusine is formed post-translationally in a single cellular protein, the eukaryotic translation initiation factor 5A, by two enzymes, namely deoxyhypusine synthase and deoxyhypusine hydroxylase. Hypusine is found in all eukaryotes and in some archaebacteria, but not in eubacteria. The deoxyhypusine synthase cDNA was cloned and mapped by fluorescence in situ hybridization on chromosome 19p13.11-p13.12. Rare cDNAs containing internal deletions were also found. We localized the deoxyhypusine synthase gene on a high resolution cosmid/BAC contig map of chromosome 19 to a region in 19p13.2-distal 19p13.1 between MANB and JUNB. Analysis of the genomic exon/intron structure of the gene coding region showed that it consists of nine exons and spans a length of 6.6kb. From observation of the genomic structure, it seems likely that the internally deleted forms of mature RNA are the result of alternative splicing, rather than of artifacts

    Design and Development of an Innovative E-Bike☆

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    Abstract A new model of power-assisted bicycle has been designed, set up and tested. The main innovative solutions for the pedelec prototype are described in the present paper: the electric motor position; the new mechanical transmission; the low cost measurement system of the driving torque; the special test rig. Differently from a common approach, in which the electric motor is located on one of the three hubs of the bicycle, the idea of the pedelec prototype consists of an electrical motor in the central position that, by means of a bevel gear, transmits the torque on the central hub. The other innovative solution is represented by the motion transmission from the motor to the pedal shaft, achieved by two different gearboxes: the first one is a planetary gearbox and the second one is a simple bevel gear. The pedelec prototype contains also a new low cost measurement system of the driving torque based on a strain gauge load cell located on one side of the rear wheel, between the hub and the frame. Moreover, a commercial cycling simulator has been suitably modified in order to properly install the different sensors for the measurement of the performance of the pedelec. The test rig is able to reproduce an aforethought route or paths acquired during road tests, to measure the performance of the e-bike in terms of instantaneous power and speed. The experimental test rig can simulate the resistant torque of a predetermined track and it aims to test and to optimize the control strategy available on the electronic control unit. The authors have also conducted an environmental analysis of the developed pedelec, in particular comparing the e-bike with a thermal moped, in terms of environmental impact

    Association between work related stress and health related quality of life: the impact of socio-demographic variables. A cross sectional study in a region of central Italy

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    The aim of this work is investigate relationship between health-related quality of life and work-related stress and the impact of gender, education level, and age on this relationship. A cross-sectional study was conducted among workers of various setting in Rome and Frosinone. Work-related stress was measured with a demand-control questionnaire and health-related functioning by SF (short form)-12 health survey. There were 611 participants. Men reported high mental composite summary (MCS) and physical composite summary (PCS). In multivariate analysis age, gender (p < 0.001) and job demand (0.045) predicted low PCS. Low MCS predicted poor PCS. Job demand and educational level resulted negatively associated with MCS. In an analysis stratified for age, gender, and educational level, gender and age resulted effect modifier for MCS, gender and education level for PCS. In women increase of decision latitude predict (p = 0.001) an increase in MCS; a low job demand predict high MCS in male (p ≤ 0.001). In younger workers, a lower level of job demand predicted high MCS (<0.001). For PCS, gender and education level resulted effect modifier. In women, high decision latitude predicted higher PCS (p = 0.001) and lower level of job demand results in higher PCS (p ≤ 0.001). Higher educational level resulted predictor of low PCS. Management of risk about work-related stress should consider socio-demographic factors

    Fatty Acids in Waste Tissues: The Nutraceutical Value of Gonads and Livers from the Moroccan Hypophthalmichthys molitrix and Cyprinus carpio Fishes

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    Fishes are an important component of human nutrition, mainly acting as source of essential fatty acids in the prevention of cardiovascular disorders. The increase in their consumption has led to a growth of fishes waste; therefore, the disposal and recycling of waste has become a key issue to address, in accordance with circular economy principles. The Moroccan Hypophthalmichthys molitrix and Cyprinus carpio fishes, living in freshwater and marine environments, were collected at mature and immature stages. The fatty acid (FA) profiles of liver and ovary tissues were investigated by GC-MS and compared with edible fillet tissues. The gonadosomatic index, the hypocholesterolemic/hypercholesterolemic ratio, and the atherogenicity and thrombogenicity indexes were measured. Polyunsaturated fatty acids were found to be abundant in the mature ovary and fillet of both species, with a polyunsaturated fatty acids/saturated fatty acids ratio ranging from 0.40 to 1.06 and a monounsaturated fatty acids/polyunsaturated fatty acids ratio between 0.64 and 1.84. Saturated fatty acids were found to be highly abundant in the liver and gonads of both species (range 30-54%), as well as monounsaturated fatty acids (range 35-58%). The results suggested that the exploitation of fish wastes, such as the liver and ovary, may represent a sustainable strategy for the achievement of high value-added molecules with nutraceutical potential
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