pinecone/core-2020-05-10-deduplication huggingface dataset:
Mitochondrial serine protease HTRA2 p.G399S in a
kindred with essential tremor and Parkinson disease

Cataloged from PDF version of article.Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the relationship between the conditions has not been clear. In a six-generation consanguineous Turkish kindred with both essential tremor and Parkinson disease, we carried out whole exome sequencing and pedigree analysis, identifying HTRA2 p.G399S as the allele likely responsible for both conditions. Essential tremor was present in persons either heterozygous or homozygous for this allele. Homozygosity was associated with earlier age at onset of tremor (P < 0.0001), more severe postural tremor (P < 0.0001), and more severe kinetic tremor (P = 0.0019). Homozygotes, but not heterozygotes, developed Parkinson signs in the middle age. Among population controls from the same Anatolian region as the family, frequency of HTRA2 p.G399S was 0.0027, slightly lower than other populations. HTRA2 encodes a mitochondrial serine protease. Loss of function of HtrA2 was previously shown to lead to parkinsonian features in motor neuron degeneration (mnd2) mice. HTRA2 p. G399S was previously shown to lead to mitochondrial dysfunction, altered mitochondrial morphology, and decreased protease activity, but epidemiologic studies of an association between HTRA2 and Parkinson disease yielded conflicting results. Our results suggest that in some families, HTRA2 p.G399S is responsible for hereditary essential tremor and that homozygotes for this allele develop Parkinson disease. This hypothesis has implications for understanding the pathogenesis of essential tremor and its relationship to Parkinson disease. © 2014, National Academy of Sciences. All rights reserved
B-physics from Nf = 2 tmQCD: the Standard Model and beyond

We present a lattice QCD computation of the b-quark mass, the B and B_s decay constants, the B-mixing bag parameters for the full four-fermion operator basis as well as determinations for \xi and f_{Bq}\sqrt{B_i^{(q)}} extrapolated to the continuum limit and to the physical pion mass. We used N_f = 2 twisted mass Wilson fermions at four values of the lattice spacing with pion masses ranging from 280 to 500 MeV. Extrapolation in the heavy quark mass from the charm to the bottom quark region has been carried out on ratios of physical quantities computed at nearby quark masses, exploiting the fact that they have an exactly known infinite mass limit. Our results are m_b(m_b, \overline{\rm{MS}})=4.29(12) GeV, f_{Bs}=228(8) MeV, f_{B}=189(8) MeV and f_{Bs}/f_B=1.206(24). Moreover with our results for the bag-parameters we find \xi=1.225(31), B_1^{(s)}/B_1^{(d)}=1.01(2), f_{Bd}\sqrt{\hat{B}_{1}^{(d)}} = 216(10) MeV and f_{Bs}\sqrt{\hat{B}_{1}^{(s)}} = 262(10) MeV. We also computed the bag parameters for the complete basis of the four-fermion operators which are required in beyond the SM theories. By using these results for the bag parameters we are able to provide a refined Unitarity Triangle analysis in the presence of New Physics, improving the bounds coming from B_{(s)}-\bar B_{(s)} mixing
Unconfined aquifer vulnerability related to topical pollution – Montes Torozos (Spain)

Este artigo deriva de uma comunicação apresentada em International workshop “Uranium, Environment and Public Health”In this paper it is shown the vulnerability model fitted to the unconfined aquifer of Montes Torozos (Spain). The most dangerous
elements were taken under consideration (e.g. Hydrocarbons, explosives, radioactive materials). The identification of their source
location and the transportation of dangerous goods across them has been the starting point of this study. The simulations took into
consideration the connection between the capital of the province (Valladolid) to Villanubla airport and between Valladolid to the
electrical transformer substation, located in the south-west edge of the hydrogeological unit of the Montes Torozos
Fair scans of the seesaw. Consequences for predictions on LFV processes.

We give a straightforward procedure to scan the seesaw parameter-space, using the common 'R-parametrization', in a complete way. This includes a very simple rule to incorporate the perturbativity requirement as a condition for the entries of the R-matrix. As a relevant application, we show that the somewhat propagated belief that BR(mu -> e, gamma) in supersymmetric seesaw models depends strongly on the value of theta(13) is an 'optical effect' produced by incomplete scans, and does not hold after a careful analytical and numerical study. When the complete scan is done, BR(mu -> e, gamma) gets very insensitive to theta(13). This holds even if the right-handed neutrino masses are kept constant or under control (as is required for succesful leptogenesis). In most cases the values of BR(mu -> e, gamma) are larger than the experimental upper bound. Including (unflavoured) leptogenesis does not introduce any further dependence on theta(13), although decreases the typical value of BR(mu -> e, gamma)
Studies on optical and dielectric properties of Al2O3 thin films prepared by electron beam evaporation and spray pyrolysis method

Al2O3 thin films find a no. of applications in optoelectronics, sensors and tribol.  In this paper, we report the prepn. and characterization of alumina films prepd. by both electron beam evapn. and spray pyrolysis method.  The elec. properties of alumina films were detd. by measuring (C-​V) and (I-​V) characteristics in a metal oxide semiconductor (MOS) structure.  A relative dielec. const. (εr) of 9.6 for spray pyrolyzed films and 8.3 for evapd. films was obtained.  The breakdown elec. field was around 5 and 1 MV​/cm, resp. for spray pyrolyzed and evapd. films.  The refractive index of alumina films by evapn. was 1.71 and 1.61 at 275 and 500 nm, resp.  The optical band gap of spray pyrolyzed films deposited at 300° was in the range of 5.40-​5.55 eV.  Structural, elemental anal. and stoichiometry of the films was studied by scanning electron microscope (SEM)​, energy dispersive x-​ray anal. (energy-​dispersive x-​ray anal.)​, Auger electron spectroscopy (AES) and Rutherford back scattering (RBS) spectra
Search for new resonances in events with one lepton and missing transverse momentum in pp collisions at s=13 TeV with the ATLAS detector

A search for W′W′ bosons in events with one lepton (electron or muon) and missing transverse momentum is presented. The search uses 3.2 fb−1 of pp   collision data collected at View the MathML sources=13 TeV by the ATLAS experiment at the LHC in 2015. The transverse mass distribution is examined and no significant excess of events above the level expected from Standard Model processes is observed. Upper limits on the W′W′ boson cross-section times branching ratio to leptons are set as a function of the W′W′ mass. Within the Sequential Standard Model W′W′ masses below 4.07 TeV are excluded at the 95% confidence level. This extends the limit set using LHC data at View the MathML sources=8 TeV by around 800 GeV.We acknowledge the support of ANPCyT, Argentina; YerPhI, Armenia; ARC, Australia; BMWFW and FWF, Austria; ANAS, Azerbaijan; SSTC, Belarus; CNPq and FAPESP, Brazil; NSERC, NRC and CFI, Canada; CERN; CONICYT, Chile; CAS, MOST and NSFC, China; COLCIENCIAS, Colombia; MSMT CR, MPO CR and VSC CR, Czech Republic; DNRF and DNSRC, Denmark; IN2P3-CNRS, CEA-DSM/IRFU, France; GNSF, Georgia; BMBF, HGF, and MPG, Germany; GSRT, Greece; RGC, Hong Kong SAR, China; ISF, I-CORE and Benoziyo Center, Israel; INFN, Italy; MEXT and JSPS, Japan; CNRST, Morocco; FOM and NWO, Netherlands; RCN, Norway; MNiSW and NCN, Poland; FCT, Portugal; MNE/IFA, Romania; MES of Russia and NRC KI, Russian Federation; JINR; MESTD, Serbia; MSSR, Slovakia; ARRS and MIZS, Slovenia; DST/NRF, South Africa; MINECO, Spain; SRC and Wallenberg Foundation, Sweden; SERI, SNSF and Cantons of Bern and Geneva, Switzerland; MOST, Taiwan; TAEK, Turkey; STFC, United Kingdom; DOE and NSF, United States of America. In addition, individual groups and members have received support from BCKDF, the Canada Council, CANARIE, CRC, Compute Canada, FQRNT, and the Ontario Innovation Trust, Canada; EPLANET, ERC, FP7, Horizon 2020 and Marie Sklodowska-Curie Actions, European Union; Investissements d'Avenir Labex and Idex, ANR, Region Auvergne and Fondation Partager le Savoir, France; DFG and AvH Foundation, Germany; Herakleitos, Thales and Aristeia programmes co-financed by EU-ESF and the Greek NSRF; BSF, GIF and Minerva, Israel; BRF, Norway; Generalitat de Catalunya, Generalitat Valenciana, Spain; the Royal Society and Leverhulme Trust, United Kingdom
Scenario planning with a sociological eye : augmenting the intuitive logics approach to understanding the future of Scotland and the UK

We would also like to acknowledge the generous financial support of the UK's Economic and Social Research Council (ESRC ES/L005301/1) and the Future of the UK and Scotland program.This paper draws on a social theory-informed understanding of causality to illustrate how notions of agent–structure interactions can enhance the intuitive logics (IL) approach to scenario planning. It incorporates concepts such as the ‘subjective’ predispositions of agency, ‘objective’ structures of social systems, activity dependence, unintended consequences of action and event-time temporality in the IL method to augment causal analysis in the scenario development process. The paper illustrates the social theory-informed IL framework through its application to a scenario exercise undertaken in the lead-up to the Scottish referendum on independence from the United Kingdom on September 18th, 2014. The central thesis of the paper is that agent–structure interactions underpin the unfolding of futures in social systems by both constraining and enabling the range of possible futures that can emerge.Publisher PDFPeer reviewe
CCR2 mediates dendritic cell recruitment to the human colon but is not responsible for differences observed in dendritic cell subsets, phenotype and function between the proximal and distal colon

© 2016 The Authors.Background & Aims: Most knowledge about gastrointestinal (GI)-tract dendritic cells (DC) relies on murine studies where CD103+ DC specialize in generating immune tolerance with the functionality of CD11b+/- subsets being unclear. Information about human GI-DC is scarce, especially regarding regional specifications. Here, we characterized human DC properties throughout the human colon. Methods: Paired proximal (right/ascending) and distal (left/descending) human colonic biopsies from 95 healthy subjects were taken; DC were assessed by flow cytometry and microbiota composition assessed by 16S rRNA gene sequencing. Results: Colonic DC identified were myeloid (mDC, CD11c+CD123-) and further divided based on CD103 and SIRPα (human analog of murine CD11b) expression. CD103-SIRPα+ DC were the major population and with CD103+SIRPα+ DC were CD1c+ILT3+CCR2+ (although CCR2 was not expressed on all CD103+SIRPα+ DC). CD103+SIRPα- DC constituted a minor subset that were CD141+ILT3-CCR2-. Proximal colon samples had higher total DC counts and fewer CD103+SIRPα+ cells. Proximal colon DC were more mature than distal DC with higher stimulatory capacity for CD4+CD45RA+ T-cells. However, DC and DC-invoked T-cell expression of mucosal homing markers (β7, CCR9) was lower for proximal DC. CCR2 was expressed on circulating CD1c+, but not CD141+ mDC, and mediated DC recruitment by colonic culture supernatants in transwell assays. Proximal colon DC produced higher levels of cytokines. Mucosal microbiota profiling showed a lower microbiota load in the proximal colon, but with no differences in microbiota composition between compartments. Conclusions: Proximal colonic DC subsets differ from those in distal colon and are more mature. Targeted immunotherapy using DC in T-cell mediated GI tract inflammation may therefore need to reflect this immune compartmentalization
Search for Bc+ decays to the ppπ+ final state

© 2016 The Author(s).A search for the decays of the B+c meson to pp-π+ is performed for the first time using a data sample corresponding to an integrated luminosity of 3.0 fb-1 collected by the LHCb experiment in pp collisions at centre-of-mass energies of 7 and 8 TeV. No signal is found and an upper limit, at 95% confidence level, is set, fcfu×B(B+c→ppπ+)<3.6×10-8 in the kinematic region m(pp)<2.85 GeV/c2, pT(B)<20 GeV/c and 2.0<y(B)<4.5, where B is the branching fraction and fc (fu) is the fragmentation fraction of the b quark into a Bc+ (B+) meson
Population-level impact, herd immunity, and elimination after human papillomavirus vaccination: a systematic review and meta-analysis of predictions from transmission-dynamic models

Background Modelling studies have been widely used to inform human papillomavirus (HPV) vaccination policy decisions; however, many models exist and it is not known whether they produce consistent predictions of population-level effectiveness and herd effects. We did a systematic review and meta-analysis of model predictions of the long-term population-level effectiveness of vaccination against HPV 16, 18, 6, and 11 infection in women and men, to examine the variability in predicted herd effects, incremental benefit of vaccinating boys, and potential for HPV-vaccine-type elimination. Methods We searched MEDLINE and Embase for transmission-dynamic modelling studies published between Jan 1, 2009, and April 28, 2015, that predicted the population-level impact of vaccination on HPV 6, 11, 16, and 18 infections in high-income countries. We contacted authors to determine whether they were willing to produce new predictions for standardised scenarios. Strategies investigated were girls-only vaccination and girls and boys vaccination at age 12 years. Base-case vaccine characteristics were 100% efficacy and lifetime protection. We did sensitivity analyses by varying vaccination coverage, vaccine efficacy, and duration of protection. For all scenarios we pooled model predictions of relative reductions in HPV prevalence (RRprev) over time after vaccination and summarised results using the median and 10th and 90th percentiles (80% uncertainty intervals [UI]). Findings 16 of 19 eligible models from ten high-income countries provided predictions. Under base-case assumptions, 40% vaccination coverage and girls-only vaccination, the RRprev of HPV 16 among women and men was 0??53 (80% UI 0??46???0??68) and 0??36 (0??28???0??61), respectively, after 70 years. With 80% girls-only vaccination coverage, the RRprev of HPV 16 among women and men was 0??93 (0??90???1??00) and 0??83 (0??75???1??00), respectively. Vaccinating boys in addition to girls increased the RRprev of HPV 16 among women and men by 0??18 (0??13???0??32) and 0??35 (0??27???0??39) for 40% coverage, and 0??07 (0??00???0??10) and 0??16 (0??01???0??25) for 80% coverage, respectively. The RRprev were greater for HPV 6, 11, and 18 than for HPV 16 for all scenarios investigated. Finally at 80% coverage, most models predicted that girls and boys vaccination would eliminate HPV 6, 11, 16, and 18, with a median RRprev of 1??00 for women and men for all four HPV types. Variability in pooled findings was low, but increased with lower vaccination coverage and shorter vaccine protection (from lifetime to 20 years). Interpretation Although HPV models differ in structure, data used for calibration, and settings, our population-level predictions were generally concordant and suggest that strong herd effects are expected from vaccinating girls only, even with coverage as low as 20%. Elimination of HPV 16, 18, 6, and 11 is possible if 80% coverage in girls and boys is reached and if high vaccine efficacy is maintained over time
Search for squarks and gluinos using final states with jets and missing transverse momentum with the ATLAS detector in √s = 7 TeV proton–proton collisions

A search for squarks and gluinos in final states containing jets, missing transverse momentum and no electrons or muons is presented. The data were recorded by the ATLAS experiment in √s = 7 TeV proton–proton collisions at the Large Hadron Collider. No excess above the Standard Model background expectation was observed in 35 pb[superscript −1] of analysed data. Gluino masses below 500 GeV are excluded at the 95% confidence level in simplified models containing only squarks of the first two generations, a gluino octet and a massless neutralino. The exclusion increases to 870 GeV for equal mass squarks and gluinos. In MSUGRA/CMSSM models with View the tanβ=3, A[subscript 0] = 0 and μ>0, squarks and gluinos of equal mass are excluded below 775 GeV. These are the most stringent limits to date.European Organization for Nuclear ResearchUnited States. Dept. of EnergyNational Science Foundation (U.S.)Brookhaven National Laborator
Search for squarks and gluinos in events with isolated leptons, jets and missing transverse momentum at √s = 8 TeV with the ATLAS detector

The results of a search for supersymmetry in final states containing at least one isolated lepton (electron or muon), jets and large missing transverse momentum with the ATLAS detector at the Large Hadron Collider are reported. The search is based on proton-proton collision data at a centre-of-mass energy √s = 8 TeV collected in 2012, corresponding to an integrated luminosity of 20 fb[superscript −1]. No significant excess above the Standard Model expectation is observed. Limits are set on supersymmetric particle masses for various supersymmetric models. Depending on the model, the search excludes gluino masses up to 1.32 TeV and squark masses up to 840 GeV. Limits are also set on the parameters of a minimal universal extra dimension model, excluding a compactification radius of 1/R [subscript c] = 950 GeV for a cut-off scale times radius (ΛR [subscript c]) of approximately 30.United States. Dept. of EnergyNational Science Foundation (U.S.)Brookhaven National Laborator
Validation of the long international physical activity questionnaire: Influence of age and language region

OBJECTIVE: Little is known about the influence of age, gender and language on the measurement properties of the long International Physical Activity Questionnaire (IPAQ). The aim was to validate the long IPAQ in adults aged 18-84 in the German-, French- and Italian-speaking parts of Switzerland, focusing on differences between gender, age groups and language regions.\ud
METHODS: This cross-sectional study was conducted in the frame of SAPALDIA (Swiss Cohort Study on Air Pollution and Lung and Heart Disease in Adults) in 2011. 346 participants (54.6% women, mean age 54.6 years) wore an Actigraph GT3X accelerometer during 8 days and completed the IPAQ. IPAQ and accelerometer data on total physical activity and on different intensities as well as sitting time were compared using Spearman correlations and Bland-Altman plots.\ud
RESULTS: Correlations were highest for vigorous physical activity (r = 0.41) and sitting time (r = 0.42). Significant gender differences were apparent for leisure-time physical activity (men: r = 0.35 versus women: r = 0.57, p = 0.012) and for sitting time (men: r = 0.28 versus women: r = 0.53, p = 0.007). Differences between age groups were present for sitting time (youngest: r = 0.72 versus middle: r = 0.36, p < 0.001; youngest versus oldest: r = 0.34, p = 0.001). Differences between language regions were present for vigorous physical activity (German: r = 0.28 versus Italian: r = 0.53, p = 0.033). IPAQ overestimated physical activity but underestimated sitting time.\ud
CONCLUSION: The long IPAQ showed moderate validity similar to other studies when compared to accelerometer data in a diverse sample of individuals. Some sex, age and regional differences were observed but do not seem to limit its applicability in population sub groups
A Linear Program For Holistic Matching : Assessment on Schema Matching Benchmarks

Schema matching is a key task in several applications such as data  integration and ontology engineering. All application fields require the matching  of several schemes also known as "holistic matching", but the difficulty of the  problem spawned much more attention to pairwise schema matching rather than  the latter. In this paper, we propose a new approach for holistic matching. We  suggest modelling the problem with some techniques borrowed from the combinatorial  optimization field. We propose a linear program, named LP4HM, which  extends the maximum-weighted graph matching problem with different linear  constraints. The latter encompass matching setup constraints, especially cardinality  and threshold constraints; and schema structural constraints, especially superclass/subclass  and coherence constraints. The matching quality of LP4HM is  evaluated on a recent benchmark dedicated to assessing schema matching tools.  Experimentations show competitive results compared to other tools, in particular  for recall and HSR quality measure
On the wave length of smooth periodic traveling waves of the Camassa-Holm equation

Agraïments: A. Geyer is supported by the FWF project J3452 “Dynamical Systems Methods in Hydrodynamics” of the Austrian Science Fund. J.This paper is concerned with the wave length of smooth periodic traveling wave solutions of the Camassa-Holm equation. The set of these solutions can be parametrized using the wave height a (or ``peak-to-peak amplitude''). Our main result establishes monotonicity properties of the map a (a), i.e., the wave length as a function of the wave height. We obtain the explicit bifurcation values, in terms of the parameters associated to the equation, which distinguish between the two possible qualitative behaviours of (a), namely monotonicity and unimodality. The key point is to relate (a) to the period function of a planar differential system with a quadratic-like first integral, and to apply a criterion which bounds the number of critical periods for this type of systems
Inference of Tumor Evolution during Chemotherapy by Computational Modeling and In Situ Analysis of Genetic and Phenotypic Cellular Diversity.

Cancer therapy exerts a strong selection pressure that shapes tumor evolution, yet our knowledge of how tumors change during treatment is limited. Here, we report the analysis of cellular heterogeneity for genetic and phenotypic features and their spatial distribution in breast tumors pre- and post-neoadjuvant chemotherapy. We found that intratumor genetic diversity was tumor-subtype specific, and it did not change during treatment in tumors with partial or no response. However, lower pretreatment genetic diversity was significantly associated with pathologic complete response. In contrast, phenotypic diversity was different between pre- and posttreatment samples. We also observed significant changes in the spatial distribution of cells with distinct genetic and phenotypic features. We used these experimental data to develop a stochastic computational model to infer tumor growth patterns and evolutionary dynamics. Our results highlight the importance of integrated analysis of genotypes and phenotypes of single cells in intact tissues to predict tumor evolution