Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline tissues. Intergenerational differences usually reveal an increase in allele length, concordant with the clinical anticipation characteristic of DM1, but there have also been cases with intergenerational contractions of the repeat length, accompanied by apparent anticipation. In order to gain a better understanding of this intergenerational behaviour, we have obtained semen samples from six DM males and used single molecule analyses to compare the allele distributions present in their sperm and blood with those of their offspring. We have confirmed that the male germline mutational pathway is distinct from that of the soma, but the extent of variation is highly variable from one individual to another and not obviously correlated with progenitor allele length. Nonetheless, in all cases the alleles present in the father's sperm overlap with those observed in their offspring. These data also provide further indications that the interpretation of intergenerational transmissions by standard analyses is frequently compromised by the masking of germline differences by age-dependent somatic expansion in the parent

Composition and Self-Adaptation of Service-Based Systems with Feature Models

The adoption of mechanisms for reusing software in pervasive systems has not yet become standard practice. This is because the use of pre-existing software requires the selection, composition and adaptation of prefabricated software parts, as well as the management of some complex problems such as guaranteeing high levels of efficiency and safety in critical domains. In addition to the wide variety of services, pervasive systems are composed of many networked heterogeneous devices with embedded software. In this work, we promote the safe reuse of services in service-based systems using two complementary technologies, Service-Oriented Architecture and Software Product Lines. In order to do this, we extend both the service discovery and composition processes defined in the DAMASCo framework, which currently does not deal with the service variability that constitutes pervasive systems. We use feature models to represent the variability and to self-adapt the services during the composition in a safe way taking context changes into consideration. We illustrate our proposal with a case study related to the driving domain of an Intelligent Transportation System, handling the context information of the environment.Work partially supported by the projects TIN2008-05932, TIN2008-01942, TIN2012-35669, TIN2012-34840 and CSD2007-0004 funded by Spanish Ministry of Economy and Competitiveness and FEDER; P09-TIC-05231 and P11-TIC-7659 funded by Andalusian Government; and FP7-317731 funded by EU. Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tec

Development of Domain Analysis to Predict Multi-Axial Flexible Airfield Pavement Responses Due to Gear and Environmental Loadings

Flexible pavement design procedures use maximum mechanistic strains to predict service life via empirical transfer functions. The conventional method of using predefined point locations for potential damage may not accurately represent realistic pavement scenarios. For instance, flexible airfield pavement analysis mainly considers the critical strain at the bottom of the asphalt concrete (AC), which may not characterize near-surface cracking potential. In lieu of point strains, domain analysis, a new method, accounts for the multi-axial behavior of pavements, as inherently excited by three-dimensional (3-D) and nonuniform aircraft tire–pavement contact stresses. Initially applied on highway pavements considering truck tire loading, this approach is an initial breakthrough for implementing domain analysis on flexible airfield pavements; in this study, A-380 and F-16 landing gear tire loads were considered. As anticipated, speed and temperature had significant influence on cumulative domain stress and strain ratios. The decrease in speed and increase in temperature not only increased the cumulative ratios up to 1.81, but nonlinearity of the problem became more prevalent at worst loading conditions (8 kph and 45°C). Minimal difference in ratios for F-16 cases suggests that the National Airport Pavement Test Facility pavement structure became less sensitive to conditions under low loads. Point response analysis revealed that critical strains were not significantly influenced by the tire-inflation pressure, for example, tensile strain at the bottom of the AC only increased up to 13.6% (considering 8 kph speed), whereas domain analysis quantified the increase with respect to 3-D stress or strain states

Development of Domain Analysis for Determining Potential Pavement Damage

A new approach for quantifying flexible pavement damage potential is proposed. The new method, domain analysis, utilizes multiaxial results from advanced finite element models to calculate the response of flexible pavements to tire loading. The output is a single scalar value, which is unique to a given pavement structure and loading configuration. The ability of the domain analysis to quantify bulk damage potential and overcome flaws of conventional approaches based on point responses is demonstrated by testing three case studies: (1) comparison of typical loading conditions of dual-tire assembly (DTA), new-generation wide-base tire (NG-WBT), and steer tire; (2) effect of tire-inflation pressures; and (3) influence of differential tire-inflation pressure for DTA. The proposed method provides a direct link between three-dimensional contact stresses at the tire-pavement interface and three-dimensional responses of a loaded pavement structure. Also, the applicability of the domain analysis method could easily extend to other pavement structures, tire types and configurations, and loading conditions, along with considering other failure criteria. Jaime Hernandez was affiliated with University of Illinois at Urbana–Champaign at the time of publication

Development of Adjustment Factors for MEPDG Pavement Responses Utilizing Finite-Element Analysis

The Mechanistic-empirical pavement design guide (MEPDG) provides theoretically superior methodology, as compared with its predecessor, for the design and analysis of pavement structures. The mechanistic part refers to simulating pavement–tire interaction to calculate critical responses within pavement. The empirical part means prediction of pavement distress propagation over time using transfer functions that link a critical pavement response to a particular pavement distress. The mechanistic part of MEPDG simulates tire–pavement interaction in three steps: subdivision of pavement layers; complex modulus calculation at the middepth of each sublayer, considering velocity and temperature; and running the multilayered elastic theory (MLET) software, JULEA. Although MEDPG has a grounded methodology for pavement analysis, it has a number of limitations and unrealistic simplifications that result in inaccurate response predictions. These limitations are primarily related to the pavement analysis approach used in the MEPDG framework, MLET. By contrast, finite-element (FE) analysis has proven to be a promising numerical approach for overcoming these limitations and simulating pavement more accurately and realistically. Although comparison of MLET with FE analysis has been studied, the difference between FE and MEPDG simulations has not been quantified. This study fills that gap by developing linear equations that connect pavement responses produced by these two approaches to pavement analysis. The equations are developed for ten different pavement responses, using a total of 336 cases simulated using FE and MEPDG analyses. The cases modeled in simulations were selected to capture extreme conditions, i.e., thick and thin pavement structures with strong and weak material properties. The equations developed can help pavement researchers understand quantitatively the effect of MEPDG limitations. In addition, the equations may be used as adjustment factors for MEPDG to compute pavement responses more realistically without using computationally expensive approaches, such as FE analysis

The K luminosity-metallicity relation for dwarf galaxies and the tidal dwarf galaxies in the tails of HCG 31

We determine a K-band luminosity-metallicity (K-Z) relation for dwarf irregular galaxies, over a large range of magnitudes, -20.5 < M_K < -13.5, using a combination of K photometry from either the 2-micron all sky survey (2MASS) or the recent study of Vadivescu er al. (2005), and metallicities derived mainly with the T_e method, from several different studies. We then use this newly-derived relation, together with published K_s photometry and our new spectra of objects in the field of HCG 31 to discuss the nature of the possible tidal dwarf galaxies of this group. We catalogue a new member of HCG 31, namely "R", situated ~40 kpc north of the group center, composed by a ring of H alpha knots which coincides with a peak in HI. This object is a deviant point in the K-Z relation (it has too high metallicity for its luminosity) and its projected distance to the parent galaxy and large gas reservoir makes it one of the most promising tidal dwarf galaxy candidates of HCG 31, together with object F. The subsystems A1, E, F, H and R all have metallicities similar to that of the galaxies A+C and B, result that is expected in a scenario where those were formed from material expelled from the central galaxies of HCG 31. While objects A1, E and H will most probably fall back onto their progenitors, F and R may survive as tidal dwarf galaxies. We find that two galaxies of HCG 31, G and Q, have A+em spectral signatures, and are probably evolving toward a post-starburst phase.Comment: 32 pages, 4 figures - Submitted to AJ - A version of this paper with full resolution figures can be found at http://www.astro.iag.usp.br/~eduardo/HCG31-KZrelation.pd

Studying the nuclear mass composition of Ultra-High Energy Cosmic Rays with the Pierre Auger Observatory

The Fluorescence Detector of the Pierre Auger Observatory measures the atmospheric depth, $X_{max}$, where the longitudinal profile of the high energy air showers reaches its maximum. This is sensitive to the nuclear mass composition of the cosmic rays. Due to its hybrid design, the Pierre Auger Observatory also provides independent experimental observables obtained from the Surface Detector for the study of the nuclear mass composition. We present $X_{max}$-distributions and an update of the average and RMS values in different energy bins and compare them to the predictions for different nuclear masses of the primary particles and hadronic interaction models. We also present the results of the composition-sensitive parameters derived from the ground level component.Comment: Proceedings of the 12th International Conference on Topics in Astroparticle and Underground Physics, TAUP 2011, Munich, German