Mosaic isochromosome xq and microduplication 17p13.3p13.2 in a patient with Turner syndrome and congenital cataract

La combinación del síndrome de Turner con otros trastornos genéticos, como la catarata congénita, ha sido reportada. Sin embargo, su asociación con una forma de catarata nuclear congénita con herencia autosómica dominante y penetrancia incompleta no ha sido reportada previamente en la literatura. Tampoco existen reportes de su presentación junto con rearreglos en el cromosoma 17. A continuación, presentamos el excepcional caso de una paciente con una constelación de anomalías mayores y menores, diagnosticada con síndrome de Turner en mosaico por isocromosoma Xq, asociado a una microduplicación 17p13.3p13.2, quien además presenta catarata nuclear congénita bilateral de herencia autosómica dominante con penetrancia incompleta. Se realiza una revisión acerca del origen y la causa de estas alteraciones genéticas y una aproximación a la hipótesis de la patogénesis de la asociación de dos de estos trastornos genéticos en una misma paciente.The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient

Monitoring the evolution of income poverty and real incomes over time

This paper brings together two approaches to the monitoring of household living standards: the macro-economic (national accounts) analysis of aggregates and the social indicators based on household microdata (European Union Statistics on Income and Living Conditions [EU-SILC]). Both are essential. The national accounts are necessary to provide an overall perspective; the distributional data in EU-SILC are necessary to measure income poverty. The progress, or lack of progress, in reducing income poverty has to be seen in relation to what is happening to the level of real incomes. We begin with the EU-SILC-based headline at-risk-of-poverty indicator, and then consider its relation to the level of household real income as presented in the national accounts. Moving step by step, we seek to identify the reasons for differences between EU-SILC and national accounts measures of real incomes. From this, we make a number of recommendations about possible improvements in the underlying data and in the construction of the social indicators. The substantive results help illuminate the differing experience of the pre-crisis period 2005 to 2008 and the subsequent three year period 2008 to 2011 (income reference years)

Deep learning for inferring cause of data anomalies

Daily operation of a large-scale experiment is a resource consuming task, particularly from perspectives of routine data quality monitoring. Typically, data comes from different sub-detectors and the global quality of data depends on the combinatorial performance of each of them. In this paper, the problem of identifying channels in which anomalies occurred is considered. We introduce a generic deep learning model and prove that, under reasonable assumptions, the model learns to identify 'channels' which are affected by an anomaly. Such model could be used for data quality manager cross-check and assistance and identifying good channels in anomalous data samples. The main novelty of the method is that the model does not require ground truth labels for each channel, only global flag is used. This effectively distinguishes the model from classical classification methods. Being applied to CMS data collected in the year 2010, this approach proves its ability to decompose anomaly by separate channels.Comment: Presented at ACAT 2017 conference, Seattle, US

Internally driven large-scale changes in the size of Saturn's magnetosphere

Saturn’s magnetic field acts as an obstacle to solar wind flow, deflecting plasma around the planet and forming a cavity known as the magnetosphere. The magnetopause defines the boundary between the planetary and solar dominated regimes, and so is strongly influenced by the variable nature of pressure sources both outside and within. Following from Pilkington et al. (2014), crossings of the magnetopause are identified using 7 years of magnetic field and particle data from the Cassini spacecraft and providing unprecedented spatial coverage of the magnetopause boundary. These observations reveal a dynamical interaction where, in addition to the external influence of the solar wind dynamic pressure, internal drivers, and hot plasma dynamics in particular can take almost complete control of the system’s dayside shape and size, essentially defying the solar wind conditions. The magnetopause can move by up to 10–15 planetary radii at constant solar wind dynamic pressure, corresponding to relatively “plasma-loaded” or “plasma-depleted” states, defined in terms of the internal suprathermal plasma pressure

Antigen-Induced IL-1RA Production Discriminates Active and Latent Tuberculosis Infection

The IGRA (Interferon Gamma Release Assays) test is currently the standard specific test for Mycobacterium tuberculosis infection status. However, a positive test cannot distinguish between active tuberculosis disease (ATBD) and latent tuberculosis infection (LTBI). Developing a test with this characteristic is needed. We conducted longitudinal studies to identify a combination of antigen peptides and cytokines to discriminate between ATBD and LTBI. We studied 54 patients with ATBD disease and 51 with LTBI infection. Cell culture supernatant from cells stimulated with overlapping Mycobacterium tuberculosis novel peptides and 40 cytokines/chemokines were analyzed using the Luminex technology. To summarize longitudinal measurements of analyte levels, we calculated the area under the curve (AUC). Our results indicate that in vitro cell stimulation with a novel combination of peptides (Rv0849-12, Rv2031c-14, Rv2031c-5, and Rv2693-06) and IL-1RA detection in culture supernatants can discriminate between LTBI and ATBD

Scalar models for the generalized Chaplygin gas and the structure formation constraints

The generalized Chaplygin gas model represents an attempt to unify dark matter and dark energy. It is characterized by a fluid with an equation of state $p = - A/\rho^\alpha$. It can be obtained from a generalization of the DBI action for a scalar, tachyonic field. At background level, this model gives very good results, but it suffers from many drawbacks at perturbative level. We show that, while for background analysis it is possible to consider any value for $\alpha$, the perturbative analysis must be restricted to positive values of $\alpha$. This restriction can be circumvented if the origin of the generalized Chaplygin gas is traced back to a self-interacting scalar field, instead of the DBI action. But, in doing so, the predictions coming from formation of large scale structures reduce the generalized Chaplygin gas model to a kind of quintessence model, and the unification scenario is lost, if the scalar field is the canonical one. However, if the unification condition is imposed from the beginning as a prior, the model may remain competitive. More interesting results, concerning the unification program, are obtained if a non-canonical self-interacting scalar field, inspired by Rastall's theory of gravity, is imposed. In this case, an agreement with the background tests is possible.Comment: Latex file, 25 pages, 33 figures in eps format. New section on scalar models. Accepted for publication in Gravitation&Cosmolog