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

INTRODUCTION

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/70110/2/PFLDAS-12-5-iii-1.pd

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

Environment of the submillimeter-bright massive starburst HFLS3 at z∼6.34

We describe the search for Lyman break galaxies (LBGs) near the submillimeter-bright starburst galaxy HFLS3 at z = 6.34 and a study on the environment of this massive galaxy during the end of reionization. We performed two independent selections of LBGs on images obtained with the Gran Telescopio Canarias (GTC) and the Hubble Space Telescope (HST) by combining nondetections in bands blueward of the Lyman break and color selection. A total of 10 objects fulfilling the LBG selection criteria at z > 5.5 were selected over the 4.54 and 55.5 arcmin^2 covered by our HST and GTC images, respectively. The photometric redshift, UV luminosity, and star formation rate of these sources were estimated with models of their spectral energy distribution. These z ~ 6 candidates have physical properties and number densities in agreement with previous results. The UV luminosity function at z ~ 6 and a Voronoi tessellation analysis of this field show no strong evidence for an overdensity of relatively bright objects (m_(F105W) < 25.9) associated with HFLS3. However, the overdensity parameter deduced from this field and the surface density of objects cannot exclude definitively the LBG overdensity hypothesis. Moreover, we identified three faint objects at less than 3'' from HFLS3 with color consistent with those expected for z ~ 6 galaxies. Deeper data are needed to confirm their redshifts and to study their association with HFLS3 and the galaxy merger that may be responsible for the massive starburst

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

Compliance error compensation in robotic-based milling

The paper deals with the problem of compliance errors compensation in robotic-based milling. Contrary to previous works that assume that the forces/torques generated by the manufacturing process are constant, the interaction between the milling tool and the workpiece is modeled in details. It takes into account the tool geometry, the number of teeth, the feed rate, the spindle rotation speed and the properties of the material to be processed. Due to high level of the disturbing forces/torques, the developed compensation technique is based on the non-linear stiffness model that allows us to modify the target trajectory taking into account nonlinearities and to avoid the chattering effect. Illustrative example is presented that deals with robotic-based milling of aluminum alloy

Scientific Classification

types: ArticleN/

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

Dynamic routing problems with fruitful regions: models and evolutionary computation

We introduce the concept of fruitful regions in a dynamic routing context: regions that have a high potential of generating loads to be transported. The objective is to maximise the number of loads transported, while keeping to capacity and time constraints. Loads arrive while the problem is being solved, which makes it a real-time routing problem. The solver is a self-adaptive evolutionary algorithm that ensures feasible solutions at all times. We investigate under what conditions the exploration of fruitful regions improves the effectiveness of the evolutionary algorith