Familial translocation t(5;11)(q32;q23) resulting in Jacobsen syndrome and distal trisomy 5q31 in a female patient

A detailed clinical analysis of the patient’s condition was performed. The chromosomes were studied through the GTG-banding analysis and FISH withCri-du-Chat Region Probe - LSI EGR1, LSI D5S23, D5S72

Highlights from the Pierre Auger Observatory

The Pierre Auger Observatory is the world's largest cosmic ray observatory. Our current exposure reaches nearly 40,000 km$^2$ str and provides us with an unprecedented quality data set. The performance and stability of the detectors and their enhancements are described. Data analyses have led to a number of major breakthroughs. Among these we discuss the energy spectrum and the searches for large-scale anisotropies. We present analyses of our X$_{max}$ data and show how it can be interpreted in terms of mass composition. We also describe some new analyses that extract mass sensitive parameters from the 100% duty cycle SD data. A coherent interpretation of all these recent results opens new directions. The consequences regarding the cosmic ray composition and the properties of UHECR sources are briefly discussed.Comment: 9 pages, 12 figures, talk given at the 33rd International Cosmic Ray Conference, Rio de Janeiro 201

A search for point sources of EeV photons

Measurements of air showers made using the hybrid technique developed with the fluorescence and surface detectors of the Pierre Auger Observatory allow a sensitive search for point sources of EeV photons anywhere in the exposed sky. A multivariate analysis reduces the background of hadronic cosmic rays. The search is sensitive to a declination band from -85{\deg} to +20{\deg}, in an energy range from 10^17.3 eV to 10^18.5 eV. No photon point source has been detected. An upper limit on the photon flux has been derived for every direction. The mean value of the energy flux limit that results from this, assuming a photon spectral index of -2, is 0.06 eV cm^-2 s^-1, and no celestial direction exceeds 0.25 eV cm^-2 s^-1. These upper limits constrain scenarios in which EeV cosmic ray protons are emitted by non-transient sources in the Galaxy.Comment: 28 pages, 10 figures, accepted for publication in The Astrophysical Journa

Atmospheric effects on extensive air showers observed with the Surface Detector of the Pierre Auger Observatory

Atmospheric parameters, such as pressure (P), temperature (T) and density, affect the development of extensive air showers initiated by energetic cosmic rays. We have studied the impact of atmospheric variations on extensive air showers by means of the surface detector of the Pierre Auger Observatory. The rate of events shows a ~10% seasonal modulation and ~2% diurnal one. We find that the observed behaviour is explained by a model including the effects associated with the variations of pressure and density. The former affects the longitudinal development of air showers while the latter influences the Moliere radius and hence the lateral distribution of the shower particles. The model is validated with full simulations of extensive air showers using atmospheric profiles measured at the site of the Pierre Auger Observatory.Comment: 24 pages, 9 figures, accepted for publication in Astroparticle Physic

Sexo, género y sexuación : pluralidades sexuales. Un recorrido histórico-conceptual sobre la diversidad sexual.

En el presente trabajo de investigación se realiza un análisis minucioso de diversos niveles para comprender a la sexualidad y sus expresiones teniendo en cuenta su complejidad. Se desarrolla un recorrido histórico por el nacimiento de las concepciones que han definido una perspectiva estandarizada del estudio de la sexualidad y que se han instalado en la base del orden social, en lo íntimo de los hábitos trasmitidos en la tradición familiar, utilizando argumentaciones desde la antropología y la sociología, que permiten cuestionar la supuesta rigidez con la que se la ha concebido. El cuestionamiento concomitante de esta investigación permite al lector bordear la génesis de varios patrones comportamentales de la sociedad occidental y un tentativo esclarecimiento de las motivaciones que anteceden a los discursos de ruptura (feminismos, teoría de género, teoría que, reivindicaciones sociales, etc.). En tanto la encarnación de la sexualidad en los cuerpos, es un asunto que se juega en el Uno a uno, en la subjetividad de cada sujeto, este trabajo se vale de argumentos psicoanalíticos para admitir la dificultosa imposibilidad de una generalización que resulta excluyente con las particularidades y pluralidades sexuales. A través de los argumentos del psicoanálisis freudolacaniano, el trabajo de tesis expresa lo íntimo e irrepetible de las elecciones de cada uno en relación a su sexualidad y el papel fundamental que esta tiene en la estructuración de cada sujeto

Update on the correlation of the highest energy cosmic rays with nearby extragalactic matter

Data collected by the Pierre Auger Observatory through 31 August 2007 showed evidence for anisotropy in the arrival directions of cosmic rays above the Greisen-Zatsepin-Kuz'min energy threshold, \nobreak{$6\times 10^{19}$eV}. The anisotropy was measured by the fraction of arrival directions that are less than $3.1^\circ$ from the position of an active galactic nucleus within 75 Mpc (using the V\'eron-Cetty and V\'eron $12^{\rm th}$ catalog). An updated measurement of this fraction is reported here using the arrival directions of cosmic rays recorded above the same energy threshold through 31 December 2009. The number of arrival directions has increased from 27 to 69, allowing a more precise measurement. The correlating fraction is $(38^{+7}_{-6})$, compared with $21$ expected for isotropic cosmic rays. This is down from the early estimate of $(69^{+11}_{-13})$. The enlarged set of arrival directions is examined also in relation to other populations of nearby extragalactic objects: galaxies in the 2 Microns All Sky Survey and active galactic nuclei detected in hard X-rays by the Swift Burst Alert Telescope. A celestial region around the position of the radiogalaxy Cen A has the largest excess of arrival directions relative to isotropic expectations. The 2-point autocorrelation function is shown for the enlarged set of arrival directions and compared to the isotropic expectation.Comment: Accepted for publication in Astroparticle Physics on 31 August 201

Planetary Nebulae: Observational Properties, Mimics, and Diagnostics

The total number of true, likely and possible planetary nebulae (PN) now known in the Milky Way is nearly 3000, double the number known a decade ago. The new discoveries are a legacy of the recent availability of wide field, narrowband imaging surveys, primarily in the light of H-alpha. In this paper, we summarise the various PN discovery techniques, and give an overview of the many types of objects which mimic PN and which appear as contaminants in both Galactic and extragalactic samples. Much improved discrimination of classical PN from their mimics is now possible based on the wide variety of high-quality multiwavelength data sets that are now available. We offer improved taxonomic and observational definitions for the PN phenomenon based on evaluation of these better diagnostic capabilities. However, we note that evidence is increasing that the PN phenomenon is heterogeneous, and PN are likely to be formed from multiple evolutionary scenarios. In particular, the relationships between some collimated symbiotic outflows and bipolar PN remain uncertain.Comment: 25 pages, 6 figures; presentation at the workshop on the Legacies of the Macquarie/AAO/Strasbourg H-alpha Planetary Nebula project, accepted by the Publications of the Astronomical Society of Australia (PASA

Foldamers of β-peptides : conformational preference of peptides formed by rigid building blocks : The first MI-IR spectra of a triamide nanosystem

To determine local chirality driven conformational preferences of small aminocyclobutane-1-carboxylic acid derivatives, X-(ACBA) n -Y, their matrix-isolation IR spectra were recorded and analyzed. For the very first time model systems of this kind were deposited in a frozen (~10 K) noble gas matrix to reduce line width and thus, the recorded sharp vibrational lines were analyzed in details. For cis-(S,R)-1 monomer two “zigzag” conformers composed of either a six or an eight-membered H-bonded pseudo ring was identified. For trans-(S,S)-2 stereoisomer a zigzag of an eight-membered pseudo ring and a helical building unit were determined. Both findings are fully consistent with our computational results, even though the relative conformational ratios were found to vary with respect to measurements. For the dimers (S,R,S,S)-3 and (S,S,S,R)-4 as many as four different cis,trans and three different trans,cis conformers were localized in their matrix-isolation IR (MI-IR) spectra. These foldamers not only agree with the previous computational and NMR results, but also unambiguously show for the first time the presence of a structure made of a cis,trans conformer which links a “zigzag” and a helical foldamer via a bifurcated H-bond. The present work underlines the importance of MI-IR spectroscopy, applied for the first time for triamides to analyze the conformational pool of small biomolecules. We have shown that the local chirality of a β-amino acid can fully control its backbone folding preferences. Unlike proteogenic α-peptides, β- and especially (ACBA) n type oligopeptides could thus be used to rationally design and influence foldamer’s structural preferences

Reconstruction of inclined air showers detected with the Pierre Auger Observatory

We describe the method devised to reconstruct inclined cosmic-ray air showers with zenith angles greater than $60^\circ$ detected with the surface array of the Pierre Auger Observatory. The measured signals at the ground level are fitted to muon density distributions predicted with atmospheric cascade models to obtain the relative shower size as an overall normalization parameter. The method is evaluated using simulated showers to test its performance. The energy of the cosmic rays is calibrated using a sub-sample of events reconstructed with both the fluorescence and surface array techniques. The reconstruction method described here provides the basis of complementary analyses including an independent measurement of the energy spectrum of ultra-high energy cosmic rays using very inclined events collected by the Pierre Auger Observatory.Comment: 27 pages, 19 figures, accepted for publication in Journal of Cosmology and Astroparticle Physics (JCAP