pinecone/core-2020-05-10-deduplication huggingface dataset:
Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations.

アイカルディ・グチエール症候群の新規責任遺伝子IFIH1の同定. 京都大学プレスリリース. 2014-07-04.Aicardi-Goutières syndrome (AGS) is a rare, genetically determined early-onset progressive encephalopathy. To date, mutations in six genes have been identified as etiologic for AGS. Our Japanese nationwide AGS survey identified six AGS-affected individuals without a molecular diagnosis; we performed whole-exome sequencing on three of these individuals. After removal of the common polymorphisms found in SNP databases, we were able to identify IFIH1 heterozygous missense mutations in all three. In vitro functional analysis revealed that IFIH1 mutations increased type I interferon production, and the transcription of interferon-stimulated genes were elevated. IFIH1 encodes MDA5, and mutant MDA5 lacked ligand-specific responsiveness, similarly to the dominant Ifih1 mutation responsible for the SLE mouse model that results in type I interferon overproduction. This study suggests that the IFIH1 mutations are responsible for the AGS phenotype due to an excessive production of type I interferon
Automatic generation of CSP||B skeletons from xUML models

CSP||B is a formal approach to specification that combines CSP and B. In this paper we present our tool that automatically translates a subset of executable UML (xUML) models into CSP parallel to B, for the purpose of verification and increased validation at the early stages of a software engineering development lifecycle. The tool is being developed for our industrial collaborators, AWE plc, in order to strengthen their software engineering process which uses xUML. As part of this process, AWE and Kennedy Carter Ltd. have built an xUML to SPARK Ada code generator, which is also employed to contribute a higher level of safety assurance at the latter stages of the lifecycle. Our tool is based on a model-text transformation strategy that uses the xUML meta-model to map to CSP and B constructs. The tool generates machine readable CSP and B; we present a simple example to demonstrate the transformation strategy, and the analysis of the resulting specification
The correlation between white-matter microstructure and the complexity of spontaneous brain activity: a difussion tensor imaging-MEG study.

The advent of new signal processing methods, such as non-linear analysis techniques, represents a new perspective which adds further value to brain signals' analysis. Particularly, Lempel-Ziv's Complexity (LZC) has proven to be useful in exploring the complexity of the brain electromagnetic activity. However, an important problem is the lack of knowledge about the physiological determinants of these measures. Although a correlation between complexity and connectivity has been proposed, this hypothesis was never tested in vivo. Thus, the correlation between the microstructure of the anatomic connectivity and the functional complexity of the brain needs to be inspected. In this study we analyzed the correlation between LZC and fractional anisotropy (FA), a scalar quantity derived from diffusion tensors that is particularly useful as an estimate of the functional integrity of myelinated axonal fibers, in a group of sixteen healthy adults (all female, mean age 65.56±6.06 years, intervals 58-82). Our results showed a positive correlation between FA and LZC scores in regions including clusters in the splenium of the corpus callosum, cingulum, parahipocampal regions and the sagittal stratum. This study supports the notion of a positive correlation between the functional complexity of the brain and the microstructure of its anatomical connectivity. Our investigation proved that a combination of neuroanatomical and neurophysiological techniques may shed some light on the underlying physiological determinants of brain's oscillations
Aibo JukeBox : a robot dance interactive experience

This paper presents a human-robot interaction system based\ud
on the Aibo platform. This robot is both, complex and empathetic enough\ud
to generate a high level of interest from the user. The complete system\ud
is an interactive JukeBox intending to generate affective participation,\ud
i.e., empathy, from the user towards the robot and its behavior. This\ud
application is based on a robotic dance control system that generates\ud
movements adequate to the music rhythm using a stochastic controller.\ud
The user can interact with the system selecting or providing the songs to\ud
be danced by the robot. The application has been successfully presented\ud
in different non-scientific scenarios.Peer ReviewedPostprint (published version
Childhood outcomes after prescription of antibiotics to pregnant women with preterm rupture of the membranes: 7-year follow-up of the ORACLE I trial.

Background\ud
\ud
The ORACLE I trial compared the use of erythromycin and/or amoxicillin–clavulanate (co-amoxiclav) with that of placebo for women with preterm rupture of the membranes without overt signs of clinical infection, by use of a factorial randomised design. The aim of the present study—the ORACLE Children Study I—was to determine the long-term effects on children of these interventions.\ud
\ud
Methods\ud
\ud
We assessed children at age 7 years born to the 4148 women who had completed the ORACLE I trial and who were eligible for follow-up with a structured parental questionnaire to assess the child's health status. Functional impairment was defined as the presence of any level of functional impairment (severe, moderate, or mild) derived from the mark III Multi-Attribute Health Status classification system. Educational outcomes were assessed with national curriculum test results for children resident in England.\ud
\ud
Findings\ud
\ud
Outcome was determined for 3298 (75%) eligible children. There was no difference in the proportion of children with any functional impairment after prescription of erythromycin, with or without co-amoxiclav, compared with those born to mothers who received no erythromycin (594 [38·3%] of 1551 children vs 655 [40·4%] of 1620; odds ratio 0·91, 95% CI 0·79–1·05) or after prescription of co-amoxiclav, with or without erythromycin, compared with those born to mothers who received no co-amoxiclav (645 [40·6%] of 1587 vs 604 [38·1%] of 1584; 1·11, 0·96–1·28). Neither antibiotic had a significant effect on the overall level of behavioural difficulties experienced, on specific medical conditions, or on the proportions of children achieving each level in reading, writing, or mathematics at key stage one.\ud
\ud
Interpretation\ud
\ud
The prescription of antibiotics for women with preterm rupture of the membranes seems to have little effect on the health of children at 7 years of age.\ud
\ud
Funding\ud
\ud
UK Medical Research Council.This study was funded by the UK Medical Research Council and\ud
sponsored by University Hospitals of Leicester and approved by their\ud
research and development directorate. Open Access funded by Medical Research Council1964
Doing diagnosis : whether and how clinicians use a diagnostic tool of uncertain clinical utility

Diagnosis is fundamental to the practice of medicine and mastery of it is central to the process of both becoming and practicing as a doctor. We focus on diagnosis as a process, in particular from the perspective of clinicians performing it. We explore how UK clinicians exercise discretion about whether and how to use a diagnostic tool (invasive urodynamic tests – IUT) for which there is, currently, no clear, high-quality evidence. Interviews were conducted with a purposive sample of 18 clinicians who had previously completed a survey on their use of IUT. Analysis was based on the constant comparative method. Participants tended to be polarised in their view of IUT. While many regarded it as a valuable diagnostic tool that they used frequently and thought was important, others reported using it only infrequently, and some were sceptical of its value in the diagnostic process even if they commonly used it. In addition to the anticipated clinical functions (e.g. adding to understanding of the condition, helping determine best treatment) there were additional, more social, functions that IUT could serve, including fitting in with local practice and helping to defend against possible future litigation. We discern two distinct approaches to the practice of diagnosis: one approach means ‘leaving no stone unturned’ and seeking all available evidence, proven or otherwise; while a second means using clinical judgement to say ‘enough is enough’ and thereby avoid exposing patients to possibly unnecessary tests and potentially wasting scarce healthcare resources.Peer-reviewedPublisher Versio
Material models of dark energy.

A new class of “dark energy” models is reviewed and developed, in which the relativistic theory of solids is used to construct material models of dark energy. These are models which include the effects of a continuous medium with well defined physical properties at the level of linearized perturbations. The formalism is constructed for a medium with arbitrary symmetry, and then specialised to isotropic media (which will be the case of interest for the majority of cosmological applications). The theory of relativistic isotropic viscoelastic media is developed whilst keeping in mind that we ultimately want to observationally constrain the allowed properties of the material model. This is done by obtaining the viscoelastic equations of state for perturbations (the entropy and anisotropic stress), as well as identifying the consistent corner of the theory which has constant equation of state parameter inline image. A connection to the non-relativistic theory of solids is obtained by identifying the two quadratic invariants that are needed to construct the energy-momentum tensor, namely the Rayleigh dissipation function and Lagrangian for perturbations. Finally, the notion is developed that the viscoelastic behavior of the medium can be thought of as a non-minimally coupled massive gravity theory. This also provides a tool-kit for constructing consistent generalizations of coupled dark energy theories
A time series test to identify housing bubbles.

In this paper we propose a new time series empirical test to identify housing bubble periods. Our test estimates the beginning and the burst of bubbles as structural breaks in the difference between the appreciation rates of the Case-Shiller price tiers. We identify the relevant periods by exploiting the common characteristic that lower-tier house prices tend to rise faster during the boom and fall more precipitously during the bust. We implement our test on 15 U.S. Metropolitan Statistical Areas during the most recent housing bubble
Explaining the relationship between number line estimation and mathematical achievement: the role of visuomotor integration and visuospatial skills

This paper was accepted for publication in the journal Journal of Experimental Child Psychology and the definitive published version is available at http://dx.doi.org/10.1016/j.jecp.2015.12.004Performance on number line tasks, typically used as a measure of numerical representations, are reliably related to children's mathematical achievement. However, recent debate has questioned what precisely performance on the number line estimation task measures. Specifically, there has been a suggestion that this task may measure not only numerical representations but also proportional judgment skills; if this is the case, then individual differences in visuospatial skills, not just the precision of numerical representations, may explain the relationship between number line estimation and mathematical achievement. The current study investigated the relationships among visuospatial skills, visuomotor integration, number line estimation, and mathematical achievement. In total, 77 children were assessed using a number line estimation task, a standardized measure of mathematical achievement, and tests of visuospatial skills and visuomotor integration. The majority of measures were significantly correlated. In addition, the relationship between one metric from the number line estimation task (R2 LIN) and mathematical achievement was fully explained by visuomotor integration and visuospatial skill competency. These results have important implications for understanding what the number line task measures as well as the choice of number line metric for research purposes
Generation of human induced pluripotent stem cells using non-synthetic mRNA.

This is an Open Access Article. It is published by Elsevier under the Creative Commons Attribution 4.0 Unported Licence (CC BY-NC-ND). Full details of this licence are available at: http://creativecommons.org/licenses/by-nc-nd/4.0/Here we describe some of the crucial steps to generate induced pluripotent stem cells (iPSCs) using mRNA transfection. Our approach uses a V. virus-derived capping enzyme instead of a cap-analog, ensuring 100% proper cap orientation for in vitro transcribed mRNA. V. virus' 2'-O-Methyltransferase enzyme creates a cap1 structure found in higher eukaryotes and has higher translation efficiency compared to other methods. Use of the polymeric transfection reagent polyethylenimine proved superior to other transfection methods. The mRNA created via this method did not trigger an intracellular immune response via human IFN-gamma (hIFN-γ) or alpha (hIFN-α) release, thus circumventing the use of suppressors. Resulting mRNA and protein were expressed at high levels for over 48h, thus obviating daily transfections. Using this method, we demonstrated swift activation of pluripotency associated genes in human fibroblasts. Low oxygen conditions further facilitated colony formation. Differentiation into different germ layers was confirmed via teratoma assay. Reprogramming with non-synthetic mRNA holds great promise for safe generation of iPSCs of human origin. Using the protocols described herein we hope to make this method more accessible to other groups as a fast, inexpensive, and non-viral reprogramming approach
Production of associated $\chi_b$ and open charm at the LHC

In the present paper we study the production of $\chi_b + c\bar c$ at the LHC
within single parton scattering approach. A special attention payed to the
feed-down from $\chi_b$ states to the associated $\Upsilon + c\bar c$
production, which was recently studied by the LHCb. We have found that this
feed-down is about percents of the total cross section seen in the experiment.
It is shown that the shapes of the differential distributions are almost same
as found by the LHCb except the azimuthal asymmetry, which is almost flat in
the experiment. We conclude that the precise study of the single parton
scattering contributions is necessary for the correct isolation of other
possible production channels such as double parton scattering
Search for charged Higgs bosons produced in association with a top quark
  and decaying via $H^{\pm} \rightarrow \tau\nu$ using $pp$ collision data
  recorded at $\sqrt{s} = 13$ TeV by the ATLAS detector

Charged Higgs bosons produced in association with a single top quark and
decaying via $H^{\pm} \rightarrow \tau\nu$ are searched for with the ATLAS
experiment at the LHC, using proton-proton collision data at $\sqrt{s} = 13$
TeV corresponding to an integrated luminosity of 3.2 $\mathrm{fb}^{-1}$. The
final state is characterised by the presence of a hadronic $\tau$ decay and
missing transverse momentum, as well as a hadronically decaying top quark,
resulting in the absence of high-transverse-momentum electrons and muons. The
data are found to be consistent with the expected background from Standard
Model processes. A statistical analysis leads to $95\%$ confidence-level upper
limits on the production cross section times branching fraction, $\sigma(pp
\rightarrow [b]t H^{\pm}) \times \mbox{BR}(H^{\pm} \rightarrow \tau\nu)$,
between 1.9 pb and 15 fb, for charged Higgs boson masses ranging from 200 to
2000 GeV. The exclusion limits for this search surpass those obtained with the
proton-proton collision data recorded at $\sqrt{s} = 8$ TeV.Comment: 37 pages in total, list of authors starting page 21, 7 figures, 2
  tables, published in Physics Letter B, All figures including auxiliary
  figures are available at
  http://atlas.web.cern.ch/Atlas/GROUPS/PHYSICS/PAPERS/HIGG-2015-11
The Heisenberg algebra as near horizon symmetry of the black flower
  solutions of Chern-Simons-like theories of gravity

In this paper we study the near horizon symmetry algebra of the non-extremal
black hole solutions of the Chern-Simons-like theories of gravity, which are
stationary but are not necessarily spherically symmetric. We define the
extended off-shell ADT current which is an extension of the generalized ADT
current. We use the extended off-shell ADT current to define quasi-local
conserved charges such that they are conserved for Killing vectors and
asymptotically Killing vectors which depend on dynamical fields of the
considered theory. We apply this formalism to the Generalized Minimal Massive
Gravity( GMMG) and obtain conserved charges of a spacetime which describes near
horizon geometry of non-extremal black holes. Eventually, we find the algebra
of conserved charges in Fourier modes. It is interesting that, similar to the
Einstein gravity in the presence of negative cosmological constant, for the
GMMG model also we obtain the Heisenberg algebra as the near horizon symmetry
algebra of the black flower solutions. Also the vacuum state and all
descendants of the vacuum have the same energy. Thus these zero energy
excitations on the horizon appear as soft hairs on the black hole.Comment: 19 pages, added discussion and reference
Self-adjoint extensions of the Laplace&-Beltrami operator and unitaries at the boundary

We construct in this article a class of closed semi-bounded quadratic forms on the space of square integrable functions over a smooth Riemannian manifold with smooth compact boundary. Each of these quadratic forms specifies a semibounded self-adjoint extension of the Laplace-Beltrami operator. These quadratic forms are based on the Lagrange boundary form on the manifold and a family of domains parametrized by a suitable class of unitary operators on the boundary that will be called admissible. The corresponding quadratic forms are semi-bounded below and closable. Finally, the representing operators correspond to semi-bounded self-adjoint extensions of the Laplace-Beltrami operator. This family of extensions is compared with results existing in the literature and various examples and applications are discussed.The first and third name authors are partly supported by the project MTM2010-21186-C02-02 of the Spanish Ministerio de Ciencia e Innovación and QUITEMAD programme P2009 ESP-1594. The second-named author was partially supported by projects DGI MICIIN MTM2012-36372-C03-01 and Severo Ochoa SEV-2011-0087 of the Spanish Ministry of Economy and Competition. The third-named author was also partially supported in 2011 and 2012 by mobility grants of the “Universidad Carlos III de Madrid”
Oscillations above the barrier in the fusion of 28Si + 28Si

Fusion cross sections of 28Si + 28Si have been measured in a range above the barrier with a very small energy step (Delta_Elab = 0.5 MeV). Regular oscillations have been observed, best evidenced in the first derivative of the energy-weighted excitation function. For the first time, quite different behaviors (the appearance of oscillations and the trend of sub-barrier cross sections) have been reproduced within the same theoretical frame, i.e., the coupled-channel model using the shallow M3Y+repulsion potential. The calculations suggest that channel couplings play an important role in the appearance of the oscillations, and that the simple relation between a peak in the derivative of the energy-weighted cross section and the height of a centrifugal barrier is lost, and so is the interpretation of the second derivative of the excitation function as a barrier distribution for this system, at energies above the Coulomb barrier
Photosynthetic response of poikilochlorophyllous desiccation-tolerant Pleurostima purpurea (Velloziaceae) to dehydration and rehydration.

The poikilochorophyllous, desiccation-tolerant (PDT) angiosperm, Pleurostima purpurea, normally occurs in less exposed rock faces and slightly shady sites. Our aim was to evaluate the light susceptibility of the photosynthetic apparatus during dehydration-rehydration cycle in P. purpurea. In a controlled environment, the potted plants were subjected to water deficit under two different photosynthetic photon flux densities [PPFD, 100 and 400 &#956;mol(photon) m?2 s?1]. In the higher PPFD, net photosynthetic rate (PN) become undetectable after stomata closure but photochemical efficiency of photosystem II, electron transport rate, and photochemical quenching coefficient were maintained relatively high, despite a partial decrease. The photochemical activity was inhibited only after the complete loss of chlorophylls, when leaf relative water content dropped below 72% and total carotenoids reached maximal accumulation. Nonphotochemical energy dissipation increased earlier in response to dehydration under higher PPFD. PN and photochemical activity were fully recovered after rehydration under both light treatments. Our results suggested that the natural occurrence of P. purpurea should not be restricted by the light intensity during the complete desiccation-rehydration cycles. Additional key words: chlorophyll fluorescence; gas exchange; photoprotective mechanisms; vegetative desiccation tolerance201
Search for direct slepton and gaugino production in final states with two leptons and missing transverse momentum with the ATLAS detector in pp collisions at root s=7 TeV

A search for the electroweak pair production of charged sleptons and weak gauginos decaying into final states with two leptons is performed using 4.7 fb(-1) of proton-proton collision data at root s = 7 TeV recorded with the ATLAS experiment at the Large Hadron Collider. No significant excesses are observed with respect to the prediction from Standard Model processes. In the scenario of direct slepton production, if the sleptons decay directly into the lightest neutralino, left-handed slepton masses between 85 and 195 GeV are excluded at 95% confidence level for a 20 GeV neutralino. Chargino masses between 110 and 340 GeV are excluded in the scenario of direct production of wino-like chargino pairs decaying into the lightest neutralino via an intermediate on-shell charged slepton for a 10 GeV neutralino. The results are also interpreted in the framework of the phenomenological minimal supersymmetric Standard Model
Identification of the material parameters of soft tissues in the compressed leg.

International audienceElastic compression is recommended in prophylaxis and the treatment of venous disorder of the human leg. However, the mechanisms of compression are not completely understood and the response of internal tissues to the external pressure is partially unknown. To address this later issue, a 3D FE model of a human leg is developed. The geometry is derived from 3D CT scans. The FE model is made up of soft tissues and rigid bones. An inverse method is applied to identify the properties of soft tissues which are modelled as hyperelastic, near-incompressible, homogeneous and isotropic materials. The principle is to calibrate the constitutive properties using CT scans carried out with and without the presence of a compression sock. The deformed geometry computed by the calibrated FE model is in agreement with the geometry deduced from the CT scans. The model also provides the internal pressure distribution, which may lead to medical exploitation in the future