Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean grey cattle

During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. This gene is known to be associated with chondrodysplastic dwarfism in Japanese Brown cattle, and dwarfism, abnormal nails and teeth, and dysostosis in humans with Ellis-van Creveld syndrome. Sanger sequencing confirmed the presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) that led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals. This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle

TAPER AND ASSORTMENT OF WOOD FOR Eucalyptus grandis Hill ex Maiden, IN THE SOUTHEAST REGION OF RIO GRANDE DO SUL

No presente trabalho, foi estudada a forma de tronco do Eucalyptus grandis Hill ex Maiden, com base em 261 \ue1rvores cubadas, cobrindo di\ue2metros entre 8,0 cm e 74,0 cm ao n\uedvel do dap (di\ue2metro \ue0 altura do peito) originadas de florestas de propriedade da Aracruz Celulose S. A., localizadas em hortos florestais da Depress\ue3o Central e do Escudo Sul-Riograndense, no Rio Grande do Sul, para a determina\ue7\ue3o de volume e forma\ue7\ue3o de sortimentos de madeira em duas classes: serraria, compreendendo toras com di\ue2metro na ponta fina superior a 25,0 cm com casca e com comprimentos de 5,60 metros, 4,20 metros e 2,80 metros, priorizando a forma\ue7\ue3o de sortimentos com o maior comprimento; ind\ufastria, para troncos ou por\ue7\uf5es destes com di\ue2metros entre 8,0 cm e 25,0 cm com casca. O polin\uf4mio do quinto grau, tendo como vari\ue1vel dependente os di\ue2metros relativos (di/d) e independente as alturas relativas (hi/h), foi selecionado para descrever a forma, com estratifica\ue7\ue3o dos dados em tr\ueas classes de di\ue2metro \ue0 altura do peito: di\ue2metro at\ue9 20,0 cm; entre 20,0 cm e 30,0 cm e maiores que 30,0 cm, com coeficientes de determina\ue7\ue3o superiores a 0,97 e erro padr\ue3o da estimativa inferior a 6,2 %, permitindo estimar o volume absoluto e relativo dos sortimentos por integra\ue7\ue3o da fun\ue7\ue3o de forma. O ajuste do modelo para o conjunto de \ue1rvores cobrindo toda a amplitude de di\ue2metros gerou um coeficiente de determina\ue7\ue3o igual \ue0 0,98 e erro padr\ue3o da estimativa igual a 6,54 % permitindo tamb\ue9m selecionar o modelo para ajuste da forma e obten\ue7\ue3o dos sortimentos.This study had the objective of studing the stem shape of Eucalyptus grandis Hill ex Maiden, based on 261 trees, with diameters at breast height (DBH) ranging from 8 cm to 74 cm, originated from Aracruz Celulose S. A. forests, located at Depress\ue3o Central and Escudo Sul-Riograndense, in Rio Grande do Sul state, to determine the volume and assortment of wood in two classes: timber (logs with 25 cm of minimum diameter, with bark, and lengths of 5,6; 4,2 and 2,8 m, prioritizing the higher length assortments formation) and industry (stems or portions of stem with diameters between 8 and 25 cm with bark). The fiftieth degree polynomial, having as dependent variable the relative diameters (di/d) and independent variable the relative heights (hi/h) was selected to describe the shape, with data stratification in three diameter classes (DBH): diameter until 20 cm; between 20 and 30 cm and larger than 30 cm, with coefficient of determination higher than 0,97 and standard error of the estimation lower than 6,2 %, allowing to estimate the relative and absolute volume of the assortments through integration of form function. The model adjustment for the trees complex covering all the diameters breadth generated a coefficient of determination equal to 0,98 and a standard error of the estimation equal to 6,54%, also allowing to select the model to describe the shape and assortment prediction

FITTING AND SELECTING TRADITIONAL MODELS FOR TREE'S HEIGHT TIME SERIES DATA

A medi\ue7\ue3o da altura das \ue1rvores \ue9 de extrema import\ue2ncia para o planejamento da produ\ue7\ue3o florestal. Geralmente, \ue9 realizada por meio de amostragens por causa do tamanho das popula\ue7\uf5es e das pr\uf3prias \ue1rvores. Medi\ue7\uf5es ao longo do tempo formam s\ue9ries de dados temporais que implicam em certos problemas para o ajuste de equa\ue7\uf5es que descrevam sua evolu\ue7\ue3o. Muitos modelos de equa\ue7\uf5es foram desenvolvidos com essa finalidade, sendo que neste trabalho s\ue3o utilizados modelos lineares, logar\uedtmicos, n\ue3o-lineares lineariz\ue1veis e n\ue3o-lineariz\ue1veis para descrever a altura ao longo do tempo. As estat\uedsticas utilizadas para compara\ue7\ue3o entre modelos s\ue3o o coeficiente de determina\ue7\ue3o (R2), a estat\uedstica Cp de Mallows, o crit\ue9rio de informa\ue7\ue3o de Akaike (Akaike's information criterion \u2013 AIC), o quadrado m\ue9dio dos res\uedduos (QMres) e a an\ue1lise gr\ue1fica de res\uedduos. O objetivo deste trabalho foi desenvolver um exemplo de ajustamento de equa\ue7\uf5es de crescimento para altura, verificar quais se adaptam melhor aos dados populacionais e determinar que crit\ue9rios de sele\ue7\ue3o, entre os utilizados, t\ueam mais rela\ue7\ue3o com o verdadeiro melhor modelo. Para tanto, foi utilizada uma amostra de 64 \ue1rvores, provenientes de uma popula\ue7\ue3o de 531 \ue1rvores de Pinus elliottii Engelm. Nesse caso, as estat\uedsticas da amostra s\ue3o comparadas com as estat\uedsticas da popula\ue7\ue3o, demonstrando qual modelo descreve melhor os dados da popula\ue7\ue3o. A qualidade do ajuste dos dados da popula\ue7\ue3o aos estimados por cada modelo foi avaliada pelo teste Qui-Quadrado e an\ue1lise gr\ue1fica dos res\uedduos. O uso do crit\ue9rio de Akaike (AIC) mostrou-se adequado na sele\ue7\ue3o de modelos para os dados utilizados. As duas melhores equa\ue7\uf5es foram a equa\ue7\ue3o h = b0 + b1.t + b2.t5 e o modelo de Chapman-Richards, que n\ue3o apresentaram diferen\ue7as significativas entre si para os crit\ue9rios analizados. Nesse sentido, o crit\ue9rio de Akaike, calculado para os dados amostrais, mostrou-se eficiente como crit\ue9rio de sele\ue7\ue3o de equa\ue7\uf5es para descrever a altura das \ue1rvores ao longo do tempo, para a popula\ue7\ue3o utilizada neste estudo. A generabilidade, calculada pelo teste Qui-Quadrado em rela\ue7\ue3o \ue0 popula\ue7\ue3o, n\ue3o mostrou diferen\ue7a significativa entre os modelos 3 e 9. A sele\ue7\ue3o final, usando-se os crit\ue9rios qualitativos de liga\ue7\ue3o do modelo com o processo estudado, sua interpretabilidade e compreensibilidade, determinou a escolha do modelo de Chapman-Richards como o melhor para descrever o crescimento em altura das \ue1rvores estudadas.Mesuring trees' height is very importance for planning forest production. Usually, it is accomplished through samplings due to the size of the populations and the size of the trees themselves. Measurements along time form a time series data with some problems for the adjustment of equations to describe its growth. Several models were developed with that purpose. The equations used in this paper were linear, logarithmic, and non-linear models. The statistics used for comparison of those models were the determination coefficient (R2), Cp of Mallows, Akaike's information criterion (AIC), Schwarz's Bayesian criterion (SBC/BIC), squared mean of residues and the graphic analysis of residues. The objective of this work was to develop an example of adjustment of growth equations for height, to demonstrate which one adapts better to the population data and to determine which selection criteria have more relationship with the better true model. To do so, a sample of 64 trees was used, submitted to the trunk analysis, from a population of 531 trees of Pinus elliottii Engelm. The statistics of the sample were compared to the statistics of the population, demonstrating which model describes better the data of the population. Quality of the adjustment to the population's data of each model was evaluated through the Chi-square test and graphic analysis of residues. The Akaike's information criterion (AIC) was appropriated to select models for the data. The two better equations were h=b0 + b1.t + b2.t5 and Chapman-Richards' growth model, which showed no significant differences for the chosen criteria in this study. In this sense, the Akaike's information criterion (AIC) calculated to the sample data showed efficiency as an equations' selection criterion to describe the height of the trees along the time for the population used in this study. The generability, calculated by Qui-square test, in relation to the population, didn't show significant difference between models 3 and 9. Final selection, using the qualitative criteria of connection of the model to the studied process, its interpretability and comprehensibility, determined the choice of the Chapman-Richards' model as the best to describe the height growth for the studied trees

Shape modeling technique KOALA validated by ESA Rosetta at (21) Lutetia

We present a comparison of our results from ground-based observations of asteroid (21) Lutetia with imaging data acquired during the flyby of the asteroid by the ESA Rosetta mission. This flyby provided a unique opportunity to evaluate and calibrate our method of determination of size, 3-D shape, and spin of an asteroid from ground-based observations. We present our 3-D shape-modeling technique KOALA which is based on multi-dataset inversion. We compare the results we obtained with KOALA, prior to the flyby, on asteroid (21) Lutetia with the high-spatial resolution images of the asteroid taken with the OSIRIS camera on-board the ESA Rosetta spacecraft, during its encounter with Lutetia. The spin axis determined with KOALA was found to be accurate to within two degrees, while the KOALA diameter determinations were within 2% of the Rosetta-derived values. The 3-D shape of the KOALA model is also confirmed by the spectacular visual agreement between both 3-D shape models (KOALA pre- and OSIRIS post-flyby). We found a typical deviation of only 2 km at local scales between the profiles from KOALA predictions and OSIRIS images, resulting in a volume uncertainty provided by KOALA better than 10%. Radiometric techniques for the interpretation of thermal infrared data also benefit greatly from the KOALA shape model: the absolute size and geometric albedo can be derived with high accuracy, and thermal properties, for example the thermal inertia, can be determined unambiguously. We consider this to be a validation of the KOALA method. Because space exploration will remain limited to only a few objects, KOALA stands as a powerful technique to study a much larger set of small bodies using Earth-based observations.Comment: 15 pages, 8 figures, 2 tables, accepted for publication in P&S

All-Organic Textile Thermoelectrics with Carbon-Nanotube-Coated n-Type Yarns

Thermoelectric textiles that are able to generate electricity from heat gradients may find use as power sources for a wide range of miniature wearable electronics. To realize such thermoelectric textiles, both p- and n-type yarns are needed. The realization of air-stable and flexible n-type yarns, i.e., conducting yarns where electrons are the majority charge carriers, presents a considerable challenge due to the scarcity of air-stable n-doped organic materials. Here, we realize such n-type yarns by coating commercial sewing threads with a nanocomposite of multiwalled carbon nanotubes (MWNTs) and poly(N-vinylpyrrolidone) (PVP). Our n-type yarns have a bulk conductivity of 1 S cm -1 and a Seebeck coefficient of -14 μV K -1 , which is stable for several months at ambient conditions. We combine our coated n-type yarns with poly(3,4-ethylenedioxythiophene):poly(styrenesulfonate) (PEDOT:PSS) dyed silk yarns, constituting the p-type component, to realize a textile thermoelectric module with 38 n/p elements, which are capable of producing an open-circuit voltage of 143 mV when exposed to a temperature gradient of 116 \ub0C and a maximum power output of 7.1 nW at a temperature gradient of 80 \ub0C

Limit on the Radiative Neutrinoless Double Electron Capture of 36^{36}Ar from GERDA Phase I

Neutrinoless double electron capture is a process that, if detected, would give evidence of lepton number violation and the Majorana nature of neutrinos. A search for neutrinoless double electron capture of $^{36}$Ar has been performed with germanium detectors installed in liquid argon using data from Phase I of the GERmanium Detector Array (GERDA) experiment at the Gran Sasso Laboratory of INFN, Italy. No signal was observed and an experimental lower limit on the half-life of the radiative neutrinoless double electron capture of $^{36}$Ar was established: $T_{1/2} >$ 3.6 $\times$ 10$^{21}$ yr at 90 % C.I.Comment: 7 pages, 3 figure

Model-independent evidence for J/ψpJ/\psi p contributions to Λb0→J/ψpK−\Lambda_b^0\to J/\psi p K^- decays

The data sample of $\Lambda_b^0\to J/\psi p K^-$ decays acquired with the LHCb detector from 7 and 8~TeV $pp$ collisions, corresponding to an integrated luminosity of 3 fb$^{-1}$, is inspected for the presence of $J/\psi p$ or $J/\psi K^-$ contributions with minimal assumptions about $K^- p$ contributions. It is demonstrated at more than 9 standard deviations that $\Lambda_b^0\to J/\psi p K^-$ decays cannot be described with $K^- p$ contributions alone, and that $J/\psi p$ contributions play a dominant role in this incompatibility. These model-independent results support the previously obtained model-dependent evidence for $P_c^+\to J/\psi p$ charmonium-pentaquark states in the same data sample.Comment: 21 pages, 12 figures (including the supplemental section added at the end

Multiplicities of charged pions and unidentified charged hadrons from deep-inelastic scattering of muons off an isoscalar target

Multiplicities of charged pions and unidentified hadrons produced in deep-inelastic scattering were measured in bins of the Bjorken scaling variable $x$, the relative virtual-photon energy $y$ and the relative hadron energy $z$. Data were obtained by the COMPASS Collaboration using a 160 GeV muon beam and an isoscalar target ($^6$LiD). They cover the kinematic domain in the photon virtuality $Q^2$ > 1(GeV/c$)^2$, $0.004 < x < 0.4$, $0.2 < z < 0.85$ and $0.1 < y < 0.7$. In addition, a leading-order pQCD analysis was performed using the pion multiplicity results to extract quark fragmentation functions

Quantum numbers of the X(3872)X(3872) state and orbital angular momentum in its ρ0Jψ\rho^0 J\psi decay

Angular correlations in $B^+\to X(3872) K^+$ decays, with $X(3872)\to \rho^0 J/\psi$, $\rho^0\to\pi^+\pi^-$ and $J/\psi \to\mu^+\mu^-$, are used to measure orbital angular momentum contributions and to determine the $J^{PC}$ value of the $X(3872)$ meson. The data correspond to an integrated luminosity of 3.0 fb$^{-1}$ of proton-proton collisions collected with the LHCb detector. This determination, for the first time performed without assuming a value for the orbital angular momentum, confirms the quantum numbers to be $J^{PC}=1^{++}$. The $X(3872)$ is found to decay predominantly through S wave and an upper limit of $4\%$ at $95\%$ C.L. is set on the fraction of D wave.Comment: 16 pages, 4 figure

Expected Performance of the ATLAS Experiment - Detector, Trigger and Physics

A detailed study is presented of the expected performance of the ATLAS detector. The reconstruction of tracks, leptons, photons, missing energy and jets is investigated, together with the performance of b-tagging and the trigger. The physics potential for a variety of interesting physics processes, within the Standard Model and beyond, is examined. The study comprises a series of notes based on simulations of the detector and physics processes, with particular emphasis given to the data expected from the first years of operation of the LHC at CERN