Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation

Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods. A 60-year-old man who played ice hockey into his 50’s was evaluated by electrodiagnostics, muscle biopsy, and molecular genetics. Results. With long-standing pes cavus and toe walking, our patient developed progressive weakness, cramps, memory loss, and paresthesias at age 52. An axonal sensorimotor neuropathy was found upon repeated testing at age 58. Neuropathic histopathology was present in the quadriceps, and exome sequencing revealed the VCP mutation c.290 C>T, p.Gly97Glu. Conclusions. Our patient reflects the clinical heterogeneity of VCP mutations, as his neurological localization is a spectrum between a lower motor neuron disorder and a hereditary axonal peripheral neuropathy such as CMT2. Our case demonstrates a rare manifestation of the c.290 C>T, pGly97Glu VCP mutation

Metallicities of M Dwarf Planet Hosts from Spectral Synthesis

We present the first spectroscopic metallicities of three M dwarfs with known or candidate planetary mass companions. We have analyzed high resolution, high signal-to-noise spectra of these stars which we obtained at McDonald Observatory. Our analysis technique is based on spectral synthesis of atomic and molecular features using recently revised cool-star model atmospheres and spectrum synthesis code. The technique has been shown to yield results consistent with the analyses of solar-type stars and allows measurements of M dwarf [M/H] values to 0.12 dex precision. From our analysis, we find [M/H] = -0.12, -0.32, and -0.33 for GJ 876, GJ 436, and GJ 581 respectively. These three M dwarf planet hosts have sub-solar metallicities, a surprising departure from the trend observed in FGK-type stars. This study is the first part of our ongoing work to determine the metallicities of the M dwarfs included in the McDonald Observatory planet search program.Comment: 13 pages, 2 figures, accepted for publication in ApJ

Gen-2 Hand-Held Optical Imager towards Cancer Imaging: Reflectance and Transillumination Phantom Studies

Hand-held near-infrared (NIR) optical imagers are developed by various researchers towards non-invasive clinical breast imaging. Unlike these existing imagers that can perform only reflectance imaging, a generation-2 (Gen-2) hand-held optical imager has been recently developed to perform both reflectance and transillumination imaging. The unique forked design of the hand-held probe head(s) allows for reflectance imaging (as in ultrasound) and transillumination or compressed imaging (as in X-ray mammography). Phantom studies were performed to demonstrate two-dimensional (2D) target detection via reflectance and transillumination imaging at various target depths (1–5 cm deep) and using simultaneous multiple point illumination approach. It was observed that 0.45 cc targets were detected up to 5 cm deep during transillumination, but limited to 2.5 cm deep during reflectance imaging. Additionally, implementing appropriate data post-processing techniques along with a polynomial fitting approach, to plot 2D surface contours of the detected signal, yields distinct target detectability and localization. The ability of the gen-2 imager to perform both reflectance and transillumination imaging allows its direct comparison to ultrasound and X-ray mammography results, respectively, in future clinical breast imaging studies

Integrating user-centred design in the development of a silent speech interface based on permanent magnetic articulography

Abstract: A new wearable silent speech interface (SSI) based on Permanent Magnetic Articulography (PMA) was developed with the involvement of end users in the design process. Hence, desirable features such as appearance, port-ability, ease of use and light weight were integrated into the prototype. The aim of this paper is to address the challenges faced and the design considerations addressed during the development. Evaluation on both hardware and speech recognition performances are presented here. The new prototype shows a com-parable performance with its predecessor in terms of speech recognition accuracy (i.e. ~95% of word accuracy and ~75% of sequence accuracy), but significantly improved appearance, portability and hardware features in terms of min-iaturization and cost

IDCS J1426.5+3508: The Most Massive Galaxy Cluster at z>1.5z > 1.5

We present a deep (100 ks) Chandra observation of IDCS J1426.5+3508, a spectroscopically confirmed, infrared-selected galaxy cluster at $z = 1.75$. This cluster is the most massive galaxy cluster currently known at $z > 1.5$, based on existing Sunyaev-Zel'dovich (SZ) and gravitational lensing detections. We confirm this high mass via a variety of X-ray scaling relations, including $T_X$-M, $f_g$-M, $Y_X$-M and $L_X$-M, finding a tight distribution of masses from these different methods, spanning M$_{500}$ = 2.3-3.3 $\times 10^{14}$ M$_{\odot}$, with the low-scatter $Y_X$-based mass $M_{500,Y_X} = 2.6^{+1.5}_{-0.5} \times 10^{14}$ M$_\odot$. IDCS J1426.5+3508 is currently the only cluster at $z > 1.5$ for which X-ray, SZ and gravitational lensing mass estimates exist, and these are in remarkably good agreement. We find a relatively tight distribution of the gas-to-total mass ratio, employing total masses from all of the aforementioned indicators, with values ranging from $f_{gas,500}$ = 0.087-0.12. We do not detect metals in the intracluster medium (ICM) of this system, placing a 2$\sigma$ upper limit of $Z(r < R_{500}) < 0.18 Z_{\odot}$. This upper limit on the metallicity suggests that this system may still be in the process of enriching its ICM. The cluster has a dense, low-entropy core, offset by $\sim$30 kpc from the X-ray centroid, which makes it one of the few "cool core" clusters discovered at $z > 1$, and the first known cool core cluster at $z > 1.2$. The offset of this core from the large-scale centroid suggests that this cluster has had a relatively recent ($\lesssim$500 Myr) merger/interaction with another massive system.Comment: Minor changes to match accepted version, results unchanged; ApJ in pres

Predictors of fatigue severity in early systemic sclerosis: a prospective longitudinal study of the GENISOS cohort.

ObjectivesLongitudinal studies examining the baseline predictors of fatigue in SSc have not been reported. Our objectives were to examine the course of fatigue severity over time and to identify baseline clinical, demographic, and psychosocial predictors of sequentially obtained fatigue scores in early SSc. We also examined baseline predictors of change in fatigue severity over time.MethodsWe analyzed 1090 longitudinal Fatigue Severity Scale (FSS) scores belonging to 256 patients who were enrolled in the Genetics versus Environment in Scleroderma Outcomes Study (GENISOS). Predictive significance of baseline variables for sequentially obtained FSS scores was examined with generalized linear mixed models. Predictors of change in FSS over time were examined by adding an interaction term between the baseline variable and time-in-study to the model.ResultsThe patients' mean age was 48.6 years, 47% were Caucasians, and 59% had diffuse cutaneous involvement. The mean disease duration at enrollment was 2.5 years. The FSS was obtained at enrollment and follow-up visits (mean follow-up time = 3.8 years). Average baseline FSS score was 4.7(±0.96). The FSS was relatively stable and did not show a consistent trend for change over time (p = 0.221). In a multivariable model of objective clinical variables, higher Medsger Gastrointestinal (p = 0.006) and Joint (p = 0.024) Severity Indices, and anti-U1-RNP antibodies (p = 0.024) were independent predictors of higher FSS. In the final model, ineffective coping skills captured by higher Illness Behavior Questionnaire scores (p&lt;0.001), higher self-reported pain (p = 0.006), and higher Medsger Gastrointestinal Severity Index (p = 0.009) at enrollment were independent predictors of higher longitudinal FSS scores. Baseline DLco % predicted was the only independent variable that significantly predicted a change in FSS scores over time (p = 0.013), with lower DLco levels predicting an increase in FSS over time.ConclusionsThis study identified potentially modifiable clinical and psychological factors that predict longitudinal fatigue severity in early SSc

The Clustering of Extragalactic Extremely Red Objects

We have measured the angular and spatial clustering of 671 K5 Extremely Red Objects (EROs) from a 0.98 square degree sub-region of the NOAO Deep Wide-Field Survey (NDWFS). Our study covers nearly 5 times the area and has twice the sample size of any previous ERO clustering study. The wide field of view and BwRIK passbands of the NDWFS allow us to place improved constraints on the clustering of z=1 EROs. We find the angular clustering of EROs is slightly weaker than in previous measurements, and w(1')=0.25+/-0.05 for K<18.40 EROs. We find no significant correlation of ERO spatial clustering with redshift, apparent color or absolute magnitude, although given the uncertainties, such correlations remain plausible. We find the spatial clustering of K5 EROs is well approximated by a power-law, with r_0=9.7+/-1.1 Mpc/h in comoving coordinates. This is comparable to the clustering of 4L* early-type galaxies at z<1, and is consistent with the brightest EROs being the progenitors of the most massive ellipticals. There is evidence of the angular clustering of EROs decreasing with increasing apparent magnitude, when NDWFS measurements of ERO clustering are combined with those from the literature. Unless the redshift distribution of K>20 EROs is very broad, the spatial clustering of EROs decreases from r_0=9.7+/-1.1 Mpc/h for K20 EROs.Comment: Accepted for publication in the ApJ. 29 pages with 10 figures. The NOAO Deep Wide-Field Survey Bootes data release is available online at http://www.noao.edu/noao/noaodeep

Multiaperture UBVRIzJHKUBVRIzJHK Photometry of Galaxies in the Coma Cluster

We present a set of $UBVRIzJHK_s$ photometry for 745 $J+H$ band selected objects in a $22.5' \times 29.2'$ region centered on the core of the Coma cluster. This includes 516 galaxies and is at least 80% complete to H=16, with a spectroscopically complete sample of 111 cluster members (nearly all with morphological classification) for $H < 14.5$. For each object we present total \cite{kron80} magnitudes and aperture photometry. As an example, we use these data to derive color-magnitude relations for Coma early-type galaxies, measure the intrinsic scatter of these relations and its dependence on galaxy mass, and address the issue of color gradients. We find that the color gradients are mild and that the intrinsic scatter about the color-magnitude relation is small ($\sim 0.05$ mag in $U-V$ and less than $\sim 0.03$ in $B-R$, $V-I$ or $J-K$). There is no evidence that the intrinsic scatter varies with galaxy luminosity, suggesting that the cluster red sequence is established at early epochs over a range of $\sim 100$ in stellar mass.Comment: 41 pages, 5 figures, 18 data tables attached to source files or available on request from R. De propris. Accepted for publication in Astrophysical Journal Supplement Serie

The Clustering of Extremely Red Objects

We measure the clustering of Extremely Red Objects (EROs) in ~8 deg^2 of the NOAO Deep Wide Field Survey Bo\"otes field in order to establish robust links between ERO z~1.2 and local galaxy z<0.1 populations. Three different color selection criteria from the literature are analyzed to assess the consequences of using different criteria for selecting EROs. Specifically, our samples are (R-K_s)>5.0 (28,724 galaxies), (I-K_s)>4.0 (22,451 galaxies) and (I-[3.6])>5.0 (64,370 galaxies). Magnitude-limited samples show the correlation length (r_0) to increase for more luminous EROs, implying a correlation with stellar mass. We can separate star-forming and passive ERO populations using the (K_s-[24]) and ([3.6]-[24]) colors to K_s=18.4 and [3.6]=17.5, respectively. Star-forming and passive EROs in magnitude limited samples have different clustering properties and host dark halo masses, and cannot be simply understood as a single population. Based on the clustering, we find that bright passive EROs are the likely progenitors of >4L^* elliptical galaxies. Bright EROs with ongoing star formation were found to occupy denser environments than star-forming galaxies in the local Universe, making these the likely progenitors of >L^* local ellipticals. This suggests that the progenitors of massive >4L^* local ellipticals had stopped forming stars by z>1.2, but that the progenitors of less massive ellipticals (down to L^*) can still show significant star formation at this epoch.Comment: 19 pages, 16 figures, 4 tables, Accepted to ApJ 27th November 201

Quark lepton complementarity and renormalization group effects

We consider a scenario for the Quark-Lepton Complementarity relations between mixing angles in which the bi-maximal mixing follows from the neutrino mass matrix. According to this scenario in the lowest order the angle \theta_{12} is \sim 1\sigma (1.5 - 2^\circ) above the best fit point coinciding practically with the tri-bimaximal mixing prediction. Realization of this scenario in the context of the seesaw type-I mechanism with leptonic Dirac mass matrices approximately equal to the quark mass matrices is studied. We calculate the renormalization group corrections to \theta_{12} as well as to \theta_{13} in the standard model (SM) and minimal supersymmetric standard model (MSSM). We find that in large part of the parameter space corrections \Delta \theta_{12} are small or negligible. In the MSSM version of the scenario the correction \Delta \theta_{12} is in general positive. Small negative corrections appear in the case of an inverted mass hierarchy and opposite CP parities of \nu_1 and \nu_2 when leading contributions to \theta_{12} running are strongly suppressed. The corrections are negative in the SM version in a large part of the parameter space for values of the relative CP phase of \nu_1 and \nu_2: \phi > \pi/2.Comment: version as published in PRD, 14 pages, 12 figure