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

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

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

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

Dynamic Collection Scheduling Using Remote Asset Monitoring: Case Study in the UK Charity Sector

Remote sensing technology is now coming onto the market in the waste collection sector. This technology allows waste and recycling receptacles to report their fill levels at regular intervals. This reporting enables collection schedules to be optimized dynamically to meet true servicing needs in a better way and so reduce transport costs and ensure that visits to clients are made in a timely fashion. This paper describes a real-life logistics problem faced by a leading UK charity that services its textile and book donation banks and its high street stores by using a common fleet of vehicles with various carrying capacities. Use of a common fleet gives rise to a vehicle routing problem in which visits to stores are on fixed days of the week with time window constraints and visits to banks (fitted with remote fill-monitoring technology) are made in a timely fashion so that the banks do not become full before collection. A tabu search algorithm was developed to provide vehicle routes for the next day of operation on the basis of the maximization of profit. A longer look-ahead period was not considered because donation rates to banks are highly variable. The algorithm included parameters that specified the minimum fill level (e.g., 50%) required to allow a visit to a bank and a penalty function used to encourage visits to banks that are becoming full. The results showed that the algorithm significantly reduced visits to banks and increased profit by up to 2.4%, with the best performance obtained when the donation rates were more variable

JPCam: A 1.2Gpixel camera for the J-PAS survey

JPCam is a 14-CCD mosaic camera, using the new e2v 9k-by-9k 10microm-pixel 16-channel detectors, to be deployed on a dedicated 2.55m wide-field telescope at the OAJ (Observatorio Astrofisico de Javalambre) in Aragon, Spain. The camera is designed to perform a Baryon Acoustic Oscillations (BAO) survey of the northern sky. The J-PAS survey strategy will use 54 relatively narrow-band (~13.8nm) filters equi-spaced between 370 and 920nm plus 3 broad-band filters to achieve unprecedented photometric red-shift accuracies for faint galaxies over ~8000 square degrees of sky. The cryostat, detector mosaic and read electronics is being supplied by e2v under contract to J-PAS while the mechanical structure, housing the shutter and filter assembly, is being designed and constructed by a Brazilian consortium led by INPE (Instituto Nacional de Pesquisas Espaciais). Four sets of 14 filters are placed in the ambient environment, just above the dewar window but directly in line with the detectors, leading to a mosaic having ~10mm gaps between each CCD. The massive 500mm aperture shutter is expected to be supplied by the Argelander-Institut fur Astronomie, Bonn. We will present an overview of JPCam, from the filter configuration through to the CCD mosaic camera. A brief outline of the main J-PAS science projects will be included.Comment: 11 pages and 9 figure

Multiwavelength characterisation of an ACT-selected, lensed dusty star-forming galaxy at z=2.64

We present \ci\,(2--1) and multi-transition $^{12}$CO observations of a dusty star-forming galaxy, ACT\,J2029+0120, which we spectroscopically confirm to lie at $z$\,=\,2.64. We detect CO(3--2), CO(5--4), CO(7--6), CO(8--7), and \ci\,(2--1) at high significance, tentatively detect HCO$^{+}$(4--3), and place strong upper limits on the integrated strength of dense gas tracers (HCN(4--3) and CS(7--6)). Multi-transition CO observations and dense gas tracers can provide valuable constraints on the molecular gas content and excitation conditions in high-redshift galaxies. We therefore use this unique data set to construct a CO spectral line energy distribution (SLED) of the source, which is most consistent with that of a ULIRG/Seyfert or QSO host object in the taxonomy of the \textit{Herschel} Comprehensive ULIRG Emission Survey. We employ RADEX models to fit the peak of the CO SLED, inferring a temperature of T$\sim$117 K and $n_{\text{H}_2}\sim10^5$ cm$^{-3}$, most consistent with a ULIRG/QSO object and the presence of high density tracers. We also find that the velocity width of the \ci\ line is potentially larger than seen in all CO transitions for this object, and that the $L'_{\rm C\,I(2-1)}/L'_{\rm CO(3-2)}$ ratio is also larger than seen in other lensed and unlensed submillimeter galaxies and QSO hosts; if confirmed, this anomaly could be an effect of differential lensing of a shocked molecular outflow.Comment: Accepted for publication in Ap

Polyhedral Cosmic Strings

Quantum field theory is discussed in M\"obius corner kaleidoscopes using the method of images. The vacuum average of the stress-energy tensor of a free field is derived and is shown to be a simple sum of straight cosmic string expressions, the strings running along the edges of the corners. It does not seem possible to set up a spin-half theory easily.Comment: 15 pages, 4 text figures not include

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&