Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation

We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52. Clinical examination showed short stature, mild symmetric eyelid ptosis without ophthalmoplegia, scapular winging and Achilles tendon retraction. A muscle weakness was not noted. CK levels were up to 350 UI/L. Deltoid muscle biopsy showed nuclear centralization and clustering, deep sarcolemmal invaginations and type 1 fiber hypotrophy. Whole body MRI revealed fatty infiltration of posterior legs compartments, lumbar paraspinal and serratus muscles. Myotonic dystrophy type1 and 2, Pompe disease and MTM1 and DNM2-related CNM were ruled out. By sequencing BIN1, we identified a heterozygous pathogenic mutation [c.107C > A (p.A36E)], and we demonstrate that the mutation strongly impairs the membrane tubulation property of the protein. One affected sister carried the same mutation. Her clinical examination and muscle MRI revealed a similar phenotype. Our findings expand the clinical and genetic spectrum of the autosomal dominant CNM associated with BIN1 mutations

Impacts of misalignment effects on the Muon Spectrometer Performance

The ATLAS detector, currently being installed at CERN, is designed to exploit the full potential of the LHC, identifying and providing highly accurate energy and momentum measurements of particles emerging from the LHC protonproton collisions with a centre-of-mass energy at 14 TeV, starting in 2007. High-momentum final-state muons are among the most promising signatures at the LHC, thanks to a high-resolution Muon Spectrometer with standalone triggering and momentum measurement. As well known, muons interact primarily trough their electromagnetic charge, but since they are 200 times more massive than the electrons they are less affected by the electric fields of the nuclei they encounter. Muons with an energy of more than a few GeV penetrate the calorimeter and can reach the Muon Spectrometer, which consists out of more than 1.200 single drift-tubes chambers. The correct alignment of the ATLAS Muon Spectrometer is crucial to ensure its design performance. This note documents the first attempt at using various misaligned Muonspectrometer layouts to study their impacts Muon Spectrometer performance

A real delivery problem dealt with Monte Carlo techniques

[EN] In this paper we use Monte Carlo Techniques to deal with a real world delivery problem of a food company in Valencia (Spain). The problem is modeled as a set of 11 instances of the well known Vehicle Routing Problem, VRP, with additional time constraints. Given that VRP is a NP-hard problem, a heuristic algorithm, based on Monte Carlo techniques, is implemented. The solution proposed by this heuristic algorithm reaches distance and money savings of about 20% and 5% respectively.This research was partially supported by MICINN, Project MTM2013-43540-P and by UPV, Project Programa de Apoyo a la Investigación y Desarrollo de la UPV PAID-06-12.S577181Fernández de Córdoba, P., L.M. García-Raffi and J.M. Sanchis Llopis (1998), A heuristic algorithm based on Monte Carlo methods for the Rural Postman Problem.Computers and Op. Research,25, No. 12, pp. 1097–1106, 1998.Fernández de Córdoba, P. and L.M. García-Raffi, E. Nieto and J.M. Sanchis Llopis (1999a), Aplicación de técnicas Monte Carlo a un problema real de Rutas de Vehículos.Anales de Ingeniería, Colombia. In press.Fernández de Córdoba, P., L.M. García-Raffi and J.M. Sanchis Llopis (1999b), A Constructive Parallel Algorithm based on Monte Carlo techniques for Routing Problems, Submitted toParallel Computers.Laporte, G. (1992), The Vehicle Routing Problem: an overview of exact and approximate algorithms,European Journal of Operations Research,59, 345.Laporte, G., M. Desrochers and Y. Nobert (1985), “Optimal Routing under Capacity and Distance Restrictions.Operations Research,33, pp. 1050–1073.Laporte G. and Y. Nobert (1987), Exact algorithms for The Vehicle Routing Problem,Surveys in Combinatorial Optimization (S. Martello, G. Laporte, M. Minoux and C. Ribeiro Eds.). North-HollandAmsterdamMayado, A. (1998), Organización de los itinerarios de la flota de camiones de reparto de una sociedad cooperativa. Optimización mediante técnicas de simulación Monte Carlo. Proyecto Fin de Carrera. E.T.S.I.I. Universidad Politécnica de Valencia

SST-GATE: A dual mirror telescope for the Cherenkov Telescope Array

The Cherenkov Telescope Array (CTA) will be the world's first open observatory for very high energy gamma-rays. Around a hundred telescopes of different sizes will be used to detect the Cherenkov light that results from gamma-ray induced air showers in the atmosphere. Amongst them, a large number of Small Size Telescopes (SST), with a diameter of about 4 m, will assure an unprecedented coverage of the high energy end of the electromagnetic spectrum (above ~1TeV to beyond 100 TeV) and will open up a new window on the non-thermal sky. Several concepts for the SST design are currently being investigated with the aim of combining a large field of view (~9 degrees) with a good resolution of the shower images, as well as minimizing costs. These include a Davies-Cotton configuration with a Geiger-mode avalanche photodiode (GAPD) based camera, as pioneered by FACT, and a novel and as yet untested design based on the Schwarzschild-Couder configuration, which uses a secondary mirror to reduce the plate-scale and to allow for a wide field of view with a light-weight camera, e.g. using GAPDs or multi-anode photomultipliers. One objective of the GATE (Gamma-ray Telescope Elements) programme is to build one of the first Schwarzschild-Couder prototypes and to evaluate its performance. The construction of the SST-GATE prototype on the campus of the Paris Observatory in Meudon is under way. We report on the current status of the project and provide details of the opto-mechanical design of the prototype, the development of its control software, and simulations of its expected performance.Comment: In Proceedings of the 33rd International Cosmic Ray Conference (ICRC2013), Rio de Janeiro (Brazil). All CTA contributions at arXiv:1307.223

The first Frontier Fields cluster: 4.5{\mu}m excess in a z~8 galaxy candidate in Abell 2744

We present in this letter the first analysis of a z~8 galaxy candidate found in the Hubble and Spitzer imaging data of Abell 2744, as part of the Hubble Frontier Fields legacy program. We applied the most commonly-used methods to select exceptionally high-z galaxies by combining non-detection and color-criteria using seven HST bands. We used GALFIT on IRAC images for fitting and subtracting contamination of bright nearby sources. The physical properties have been inferred from SED-fitting using templates with and without nebular emission. This letter is focussed on the brightest candidate we found (m$_{F160W}$=26.2) over the 4.9 arcmin$^2$ field of view covered by the WFC3. It shows a non-detection in the ACS bands and at 3.6{\mu}m whereas it is clearly detected at 4.5{\mu}m with rather similar depths. This break in the IRAC data could be explained by strong [OIII]+H{\beta} lines at z~8 which contribute to the 4.5{\mu}m photometry. The best photo-z is found at z~8.0$^{+0.2}_{-0.5}$, although solutions at low-redshift (z~1.9) cannot be completely excluded, but they are strongly disfavoured by the SED-fitting work. The amplification factor is relatively small at {\mu}=1.49$\pm$0.02. The Star Formation Rate in this object is ranging from 8 to 60 Mo/yr, the stellar mass is in the order of M$_{\star}$=(2.5-10) x 10$^{9}$Mo and the size is r~0.35$\pm$0.15 kpc. This object is one of the first z~8 LBG candidates showing a clear break between 3.6{\mu}m and 4.5{\mu}m which is consistent with the IRAC properties of the first spectroscopically confirmed galaxy at a similar redshift. Due to its brightness, the redshift of this object could potentially be confirmed by near infrared spectroscopy with current 8-10m telescopes. The nature of this candidate will be revealed in the coming months with the arrival of new ACS and Spitzer data, increasing the depth at optical and near-IR wavelengths.Comment: 4 pages, 2 figures, Accepted for publication in Astronomy and Astrophysics Letter

DESIGN AND STUDY OF DIMENSIONAL PARAMETERS INFLUENCE ON VORTEX TUBE BEHAVIOR

Vortex tube is a thermodynamic device, with no moving parts, applied to separate hot and cold air from compressed air injected into the tube. It has many applications in the industry, for example, among others, it can be mentioned electronic systems cooling, machining processes cooling and environmental chambers. This paper presents the design and tube dimensioning based on parameters and data found in the literature. Therefore, a prototype has been made and tested, which allowed the understanding of the influence of internal tube diameter and width on the hot and cold air temperatures while submitted to compressed air with pressure varying from 1 to 2.5bar. Results of tested configurations indicates that the relation between tube length and diameter (L/D) has small influence on vertex tube behavior, meanwhile, 3/8” tube diameter shows lowest temperatures on cold flow (-6.5°C, -8.0°C and -8.5°C) and higher COP (≈ 0.15)

The ALMA Frontier Fields Survey - IV. Lensing-corrected 1.1 mm number counts in Abell 2744, MACSJ0416.1-2403 and MACSJ1149.5+2223

[abridged] Characterizing the number counts of faint, dusty star-forming galaxies is currently a challenge even for deep, high-resolution observations in the FIR-to-mm regime. They are predicted to account for approximately half of the total extragalactic background light at those wavelengths. Searching for dusty star-forming galaxies behind massive galaxy clusters benefits from strong lensing, enhancing their measured emission while increasing spatial resolution. Derived number counts depend, however, on mass reconstruction models that properly constrain these clusters. We estimate the 1.1 mm number counts along the line of sight of three galaxy clusters, i.e. Abell 2744, MACSJ0416.1-2403 and MACSJ1149.5+2223, which are part of the ALMA Frontier Fields Survey. We perform detailed simulations to correct these counts for lensing effects. We use several publicly available lensing models for the galaxy clusters to derive the intrinsic flux densities of our sources. We perform Monte Carlo simulations of the number counts for a detailed treatment of the uncertainties in the magnifications and adopted source redshifts. We find an overall agreement among the number counts derived for the different lens models, despite their systematic variations regarding source magnifications and effective areas. Our number counts span ~2.5 dex in demagnified flux density, from several mJy down to tens of uJy. Our number counts are consistent with recent estimates from deep ALMA observations at a 3$\sigma$ level. Below $\approx$ 0.1 mJy, however, our cumulative counts are lower by $\approx$ 1 dex, suggesting a flattening in the number counts. In our deepest ALMA mosaic, we estimate number counts for intrinsic flux densities $\approx$ 4 times fainter than the rms level. This highlights the potential of probing the sub-10 uJy population in larger samples of galaxy cluster fields with deeper ALMA observations.Comment: 19 pages, 14 figures, 3 tables. Accepted for publication in A&

A zeta function approach to the relation between the numbers of symmetry planes and axes of a polytope

A derivation of the Ces\`aro-Fedorov relation from the Selberg trace formula on an orbifolded 2-sphere is elaborated and extended to higher dimensions using the known heat-kernel coefficients for manifolds with piecewise-linear boundaries. Several results are obtained that relate the coefficients, $b_i$, in the Shephard-Todd polynomial to the geometry of the fundamental domain. For the 3-sphere we show that $b_4$ is given by the ratio of the volume of the fundamental tetrahedron to its Schl\"afli reciprocal.Comment: Plain TeX, 26 pages (eqn. (86) corrected

The outer disc in shambles: Blind detection of Monoceros and the ACS with Gaia’s astrometric sample

Context. The Gaia astrometric sample allows us to study the outermost Galactic disc, the halo, and their interface. It is precisely at the very edge of the disc where the effects of external perturbations are expected to be the most noticeable. Aims. Our goal is to detect the kinematic substructure present in the halo and at the edge of the Milky Way (MW) disc and provide observational constraints on their phase-space distribution. Methods. We download, one HEALpix at a time, the proper motion histogram of distant stars, to which we apply a wavelet transformation to reveal the significant overdensities. We then analyse the large coherent structures that appear in the sky. Results. We reveal a sharp yet complex anticentre dominated by Monoceros (MNC) and the Anticentre Stream (ACS) in the north – which we find have intensities comparable to the Magellanic Clouds and the Sagittarius stream – and by MNC South and TriAnd at negative latitudes. Our method allows us to perform a morphological analysis of MNC and the ACS, both of which span more than 100° in longitude, and to provide a high purity sample of giants with which we track MNC down to latitudes as low as ∼5°. Their colour-magnitude diagram is consistent with extended structures at a distance of ∼10−11 kpc that originated in the disc, with a very low ratio of RR Lyrae over M giants, and with kinematics compatible with the rotation curve at those distances or slightly slower. Conclusions. We present a precise characterisation of MNC and the ACS, two previously known structures that our method reveals naturally, allowing us to detect them without limiting ourselves to a particular stellar type and, for the first time, using only kinematics. Our results will allow future studies to model their chemo-dynamics and evolution, thus constraining some of the most influential processes that shaped the MW