Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment

BACKGROUND: Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization. Common phenotypes of 6p25 deletion syndrome patients include hydrocephalus, hearing loss, and ocular, craniofacial, skeletal, cardiac, and renal malformations. Molecular characterization of deletions can identify genes that are responsible for these phenotypes. METHODS: We report the clinical phenotype of seven patients with terminal deletions of chromosome 6p25 and compare them to previously reported patients. Molecular characterization of the deletions was performed using polymorphic marker analysis to determine the extents of the deletions in these seven 6p25 deletion syndrome patients. RESULTS: Our results, and previous data, show that ocular dysgenesis and hearing impairment are the two most highly penetrant phenotypes of the 6p25 deletion syndrome. While deletion of the forkhead box C1 gene (FOXC1) probably underlies the ocular dysgenesis, no gene in this region is known to be involved in hearing impairment. CONCLUSIONS: Ocular dysgenesis and hearing impairment are the two most common phenotypes of 6p25 deletion syndrome. We conclude that a locus for dominant hearing loss is present at 6p25 and that this locus is restricted to a region distal to D6S1617. Molecular characterization of more 6p25 deletion patients will aid in refinement of this locus and the identification of a gene involved in dominant hearing loss

Contrasting influences of inundation and land use on the rate of floodplain restoration

This study examined the assisted natural restoration of native vegetation in an Australian floodplain wetland where flows were reinstated and the river was reconnected to the floodplain, following cessation of agricultural cultivation. Extant vegetation was surveyed three times during an inundation event at plots with different land‐use histories. Restoration rate was more influenced by past land use than long‐term inundation frequency and success decreased with antecedent land‐use intensity. Prolonged land‐use history (>3 years cultivation) restricted restoration success. Sites with longer cultivation histories tended to have fewer aquatic species, more terrestrial species and exotic species. For example, amphibious responders with floating leaves were found only in reference plots and less frequently in farmed treatment plots. In this scenario, increased persistence of exotics and dryland species suggested alternative trajectories. Fields with a short land‐use history (1–3 years of clearing and cultivation) resembled undisturbed floodplain communities, consistent with a ‘field of dreams’ hypothesis. Although river–floodplain reconnections can restore wetlands, legacy effects of past land use may limit the pace and outcomes of restoration.Australian Postgraduate AwardAustralian Research Council. Grant Number: DE120102221ARC Centre of Excellence for Environmental Decisions Australian Research Council Linkage Project. Grant Number: LP088416

Towards a fair comparison of statistical and dynamical downscaling in the framework of the EURO-CORDEX initiative

Both statistical and dynamical downscaling methods are well established techniques to bridge the gap between the coarse information produced by global circulation models and the regional-to-local scales required by the climate change Impacts, Adaptation, and Vulnerability (IAV) communities. A number of studies have analyzed the relative merits of each technique by inter-comparing their performance in reproducing the observed climate, as given by a number of climatic indices (e.g. mean values, percentiles, spells). However, in this paper we stress that fair comparisons should be based on indices that are not affected by the calibration towards the observed climate used for some of the methods. We focus on precipitation (over continental Spain) and consider the output of eight Regional Climate Models (RCMs) from the EURO-CORDEX initiative at 0.44? resolution and five Statistical Downscaling Methods (SDMs) ?analog resampling, weather typing and generalized linear models? trained using the Spain044 observational gridded dataset on exactly the same RCM grid. The performance of these models is inter-compared in terms of several standard indices ?mean precipitation, 90th percentile on wet days, maximum precipitation amount and maximum number of consecutive dry days? taking into account the parameters involved in the SDM training phase. It is shown, that not only the directly affected indices should be carefully analyzed, but also those indirectly influenced (e.g. percentile-based indices for precipitation) which are more difficult to identify. We also analyze how simple transformations (e.g. linear scaling) could be applied to the outputs of the uncalibrated methods in order to put SDMs and RCMs on equal footing, and thus perform a fairer comparison.We acknowledge the World Climate Research Programme’s Working Group on Regional Climate, and theWorking Group on CoupledModelling, former coordinating body of CORDEX and responsible panel for CMIP5. We also thank the climate modeling groups (listed in Table 1 of this paper) for producing and making available their model output. We also acknowledge the Earth System Grid Federation infrastructure and AEMET and University of Cantabria for the Spain02 dataset (available at http: //www.meteo.unican.es/en/datasets/spain02). All the statistical downscaling experiments have been computed using theMeteoLab software (http://www.meteo.unican.es/software/meteolab), which is an open-source Matlab toolbox for statistical downscaling. This work has been partially supported by CORWES (CGL2010-22158-C02) and EXTREMBLES (CGL2010-21869) projects funded by the Spanish R&D programme. AC thanks the Spanish Ministry of Economy and Competitiveness for the funding provided within the FPI programme (BES-2011-047612 and EEBB-I-13-06354), JMG acknowledges the support from the SPECS project (FP7-ENV-2012-308378) and JF is grateful to the EUPORIAS project (FP7-ENV-2012-308291). We also thank three anonymous referees for their useful comments that helped to improve the original manuscript

West African Monsoon water cycle: 1. A hybrid water budget data set

International audienceThis study investigates the West African Monsoon water cycle with the help of a new hybrid water budget data set developed within the framework of the African Monsoon Multidisciplinary Analyses. Surface water and energy fluxes are estimated from an ensemble of land surface model simulations forced with elaborate precipitation and radiation products derived from satellite observations, while precipitable water tendencies are estimated from numerical weather prediction analyses. Vertically integrated atmospheric moisture flux convergence is estimated as a residual. This approach provides an advanced, comprehensive atmospheric water budget, including evapotranspiration, rainfall, and atmospheric moisture flux convergence, together with other surface fluxes such as runoff and net radiation. The annual mean and the seasonal cycle of the atmospheric water budget are presented and the couplings between budget terms are discussed for three climatologically distinct latitudinal bands between 6°N and 20°N. West Africa is shown to be alternatively a net source and sink region of atmospheric moisture, depending on the season (a source during the dry season and a sink during the wet season). Several limiting and controlling factors of the regional water cycle are highlighted, suggesting strong sensitivity to atmospheric dynamics and surface radiation. Some insight is also given into the underlying smaller-scale processes. The relationship between evapotranspiration and precipitation is shown to be very different between the Sahel and the regions more to the south and partly controlled by net surface radiation. Strong correlations are found between precipitation and moisture flux convergence over the whole region from daily to interannual time scales. Causality is also established between monthly mean anomalies. Hence, precipitation anomalies are preceded by moisture flux convergence anomalies and followed by moisture flux divergence and evapotranspiration anomalies. The results are discussed in comparison to other studies

Measurement of electrons from beauty-hadron decays in pp and Pb-Pb collisions at sNN=5.02 TeV

The production of electrons from beauty-hadron decays was measured at midrapidity in proton-proton (pp) and central Pb-Pb collisions at center-of-mass energy per nucleon-nucleon pair √s NN = 5.02 TeV, using the ALICE detector at the LHC. The cross section measured in pp collisions in the transverse momentum interval 2 < pT < 8 GeV/c was compared with models based on perturbative quantum chromodynamics calculations. The yield in the 10% most central Pb-Pb collisions, measured in the interval 2 < pT < 26 GeV/c, was used to compute the nuclear modification factor RAA, extrapolating the pp reference cross section to pT larger than 8 GeV/c. The measured R AA shows significant suppression of the yield of electrons from beauty-hadron decays at high pT and does not show a significant dependence above 8 GeV/c within uncertainties. The results are de- scribed by several theoretical models based on different implementations of the interaction of heavy quarks with a quark-gluon plasma, which predict a smaller energy loss for beauty quarks compared to light and charm quark

First measurement of Λc+ production down to pT=0 in pp and p-Pb collisions at sNN=5.02 TeV

The production of prompt Lambda+c baryons has been measured at midrapidity in the transverse momentum interval 0 < pT < 1 GeV/c for the first time, in pp and p–Pb collisions at a center-of-mass energy per nucleon-nucleon collision √s NN = 5.02 TeV. The measurement was performed in the decay channel Lambda+c → pK0S by applying new decay reconstruction techniques using a Kalman-Filter vertexing algorithm and adopting a machine-learning approach for the candidate selection. The pT -integrated Lambda+c production cross sections in both collision systems were determined and used along with the measured yields in Pb–Pb collisions to compute the pT -integrated nuclear modification factors R pPb and R AA of Lambda+c baryons, which are compared to model calculations that consider nuclear modification of the parton distribution functions. The Lambda+c /D0 baryon-to-meson yield ratio is reported for pp and p–Pb collisions. Comparisons with models that include modified hadronization processes are presented, and the implications of the results on the understanding of charm hadronization in hadronic collisions are discussed. A significant (3.7σ ) modification of the mean transverse momentum of Lambda+c baryons is seen in p–Pb collisions with respect to pp collisions, while the pT -integrated Lambda+c /D0 yield ratio was found to be consistent between the two collision systems within the uncertainties

Light (anti)nuclei production in Pb-Pb collisions at sNN=5.02 TeV

The measurement of the production of deuterons, tritons and 3 He and their antiparticles in Pb-Pb collisions at √s NN = 5.02 TeV is presented in this article. The measurements are carried out at midrapidity (|y| < 0.5) as a function of collision centrality using the ALICE detector. The pT -integrated yields, the coalescence parameters and the ratios to protons and antiprotons are reported and compared with nucleosynthesis models. The comparison of these results in different collision systems at different center-of-mass collision energies reveals a suppression of nucleus production in small systems. In the Statistical Hadronisation Model framework, this can be explained by a small correlation volume where the baryon number is conserved, as already shown in previous fluctuation analyses. However, a different size of the correlation volume is required to describe the proton yields in the same data sets. The coalescence model can describe this suppression by the fact that the wave functions of the nuclei are large and the fireball size starts to become comparable and even much smaller than the actual nucleus at low multiplicities

Production of pions, kaons, and protons as a function of the relative transverse activity classifier in pp collisions at s \sqrt{s} = 13 TeV

Abstract: The production of π±, K±, and ( p )p is measured in pp collisions at √s = 13 TeV in different topological regions of the events. Particle transverse momentum (pT) spectra are measured in the “toward”, “transverse”, and “away” angular regions defined with respect to the direction of the leading particle in the event. While the toward and away regions contain the fragmentation products of the near-side and away-side jets, respectively, the transverse region is dominated by particles from the Underlying Event (UE). The relative transverse activity classifier, RT = NT/〈NT〉, is used to group events according to their UE activity, where NT is the measured charged-particle multiplicity per event in the transverse region and 〈NT〉 is the mean value over all the analysed events. The first measurements of identified particle pT spectra as a function of RT in the three topological regions are reported. It is found that the yield of high transverse momentum particles relative to the RT-integrated measurement decreases with increasing RT in both the toward and the away regions, indicating that the softer UE dominates particle production as RT increases and validating that RT can be used to control the magnitude of the UE. Conversely, the spectral shapes in the transverse region harden significantly with increasing RT. This hardening follows a mass ordering, being more significant for heavier particles. Finally, it is observed that the pT-differential particle ratios (p + p )/(π+ + π−) and (K+ + K−)/(π+ + π−) in the low UE limit (RT → 0) approach expectations from Monte Carlo generators such as PYTHIA 8 with Monash 2013 tune and EPOS LHC, where the jet-fragmentation models have been tuned to reproduce e+e− results

Measurement of the non-prompt D-meson fraction as a function of multiplicity in proton-proton collisions at s \sqrt{s} = 13 TeV

The fractions of non-prompt (i.e. originating from beauty-hadron decays) D0 and D+ mesons with respect to the inclusive yield are measured as a function of the charged-particle multiplicity in proton-proton collisions at a centre-of-mass energy of √s = 13 TeV with the ALICE detector at the LHC. The results are reported in intervals of transverse momentum (pT) and integrated in the range 1 < pT < 24 GeV/c. The fraction of non-prompt D0 and D+ mesons is found to increase slightly as a function of pT in all the measured multiplicity intervals, while no significant dependence on the charged- particle multiplicity is observed. In order to investigate the production and hadronisation mechanisms of charm and beauty quarks, the results are compared to PYTHIA 8 as well as EPOS 3 and EPOS 4 Monte Carlo simulations, and to calculations based on the colour glass condensate including three-pomeron fusion

Investigation of K+K- interactions via femtoscopy in Pb-Pb collisions at sNN =2.76 TeV at the CERN Large Hadron Collider

Femtoscopic correlations of nonidentical charged kaons (K+K-) are studied in Pb-Pb collisions at a center-of-mass energy per nucleon-nucleon collision sNN=2.76 TeV by ALICE at the CERN Large Hadron Collider. One-dimensional K+K- correlation functions are analyzed in three centrality classes and eight intervals of particle-pair transverse momentum. The Lednický and Luboshitz interaction model used in the K+K- analysis includes the final-state Coulomb interactions between kaons and the final-state interaction through a0(980) and f0(980) resonances. The mass of f0(980) and coupling were extracted from the fit to K+K- correlation functions using the femtoscopic technique. The measured mass and width of the f0(980) resonance are consistent with other published measurements. The height of the φ(1020) meson peak present in the K+K- correlation function rapidly decreases with increasing source radius, qualitatively in agreement with an inverse volume dependence. A phenomenological fit to this trend suggests that the φ(1020) meson yield is dominated by particles produced directly from the hadronization of the system. The small fraction subsequently produced by final-state interactions could not be precisely quantified with data presented in this paper and will be assessed in future work