bluuebunny/crossref_metadata_2025_split huggingface dataset:
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next‐generation sequencing with a 25‐gene panel
Authors: Tung Nadine , Battelli Chiara , Allen Brian , Kaldate Rajesh , Bhatnagar Satish , Bowles Karla , Timms Kirsten , Garber Judy E. , Herold Christina , Ellisen Leif , Krejdovsky Jill , DeLeonardis Kim , Sedgwick Kristin , Soltis Kathleen , Roa Benjamin , Wenstrup Richard J. , Hartman Anne‐Renee 
Published: September 2014

BACKGROUNDNext‐generation sequencing (NGS) allows for simultaneous sequencing of multiple cancer susceptibility genes and, for an individual, may be more efficient and less expensive than sequential testing. The authors assessed the frequency of deleterious germline mutations among individuals with breast cancer who were referred for BRCA1 and BRCA2 (BRCA1/2) gene testing using a panel of 25 genes associated with inherited cancer predisposition.METHODSThis was a cross‐sectional study using NGS in 2158 individuals, including 1781 who were referred for commercial BRCA1/2 gene testing (cohort 1) and 377 who had detailed personal and family history and had previously tested negative for BRCA1/2 mutations (cohort 2).RESULTSMutations were identified in 16 genes, most frequently in BRCA1, BRCA2, CHEK2, ATM, and PALB2. Among the participants in cohort 1, 9.3% carried a BRCA1/2 mutation, 3.9% carried a mutation in another breast/ovarian cancer susceptibility gene, and 0.3% carried an incidental mutation in another cancer susceptibility gene unrelated to breast or ovarian cancer. In cohort 2, the frequency of mutations in breast/ovarian‐associated genes other than BRCA1/2 was 2.9%, and an additional 0.8% had an incidental mutation. In cohort 1, Lynch syndrome‐related mutations were identified in 7 individuals. In contrast to BRCA1/2 mutations, neither age at breast cancer diagnosis nor family history of ovarian or young breast cancer predicted for other mutations. The frequency of mutations in genes other than BRCA1/2 was lower in Ashkenazi Jews compared with non‐Ashkenazi individuals (P=.026).CONCLUSIONSUsing an NGS 25‐gene panel, the frequency of mutations in genes other than BRCA1/2 was 4.3%, and most mutations (3.9%) were identified in genes associated with breast/ovarian cancer. Cancer 2015;121:25–33. © 2014 American Cancer Society.
Functionalizing the Surface of Lithium‐Metal Anodes
Authors: Buonaiuto Megan , Neuhold Susanna , Schroeder David J. , Lopez Carmen M. , Vaughey John T. 
Published: September 2014

AbstractMetal–air batteries are one important aspect of many in moving beyond lithium‐ion research efforts. However, as our understanding of how molecular oxygen can act as a rechargeable cathode has progressed, the problems associated with how these materials at various states of charge interact with the lithium‐metal anode are only beginning to come to the surface. In this study we have devised a method to coat the surface of lithium with a functional group to act as either an anchor for further derivation studies or be polymerized to create a nanometer‐thick polymer coating attached to the surface by silane groups. These stable films, formed by polymerization of vinyl substituents, lower cell impedance at the electrode and over the first 50 cycles, increase cycling efficiency, and demonstrate lower‐capacity fade.
Shape‐Controlled Synthesis of Monodispersed Ultrasmall CaGd3F11 Nanocrystals for Potential Dual‐Modal Probes
Authors: Tian Yang , Yang Hong‐Yu , Yu Shanshan , Li Xia 
Published: September 2014

AbstractThe shape‐controlled synthesis of monodispersed CaGd3F11 nanocrystals by means of a solvothermal method is reported for the first time. Their morphologies can be controlled to spherical nanoparticles and one‐dimensional (1D) nanorods by tuning the volumes of oleic acid and octylamine in the reaction solution. Powder X‐ray diffraction demonstrated their hexagonal crystalline structure. Transmission electron microscopy showed their ultrasmall sizes (sub‐10 nm) and good monodispersity. The organic capping ligands on the CaGd3F11 surfaces were analyzed through infrared spectra and X‐ray photoelectron spectroscopy. Also investigated is the influence of oleic acid and octylamine on the morphology of CaGd3F11 nanocrystals. Upconversion (UC) luminescence and magnetic resonance imaging (MRI) performance that depend on the shapes of as‐prepared CaGd3F11 were studied further. CaGd3F11 nanoparticles and nanorods exhibited UC luminescence with green monochrome after doping with Yb3+ and Er3+ ions. The CaGd3F11 nanorods emitted a much higher UC intensity than the nanoparticles. The MRI relaxivity of CaGd3F11 nanorods was enhanced relative to that of nanoparticles.
Landscape variability explains spatial pattern of population structure of northern pike (Esox lucius) in a large fluvial system
Authors: Ouellet‐Cauchon Geneviève , Mingelbier Marc , Lecomte Frédéric , Bernatchez Louis 
Published: September 2014

AbstractA growing number of studies have been investigating the influence of contemporary environmental factors on population genetic structure, but few have addressed the issue of spatial patterns in the variable intensity of factors influencing the extent of population structure, and particularly so in aquatic ecosystems. In this study, we document the landscape genetics of northern pike (Esox lucius), based on the analysis of nearly 3000 individuals from 40 sampling sites using 22 microsatellites along the Lake Ontario – St. Lawrence River system (750 km) that locally presents diverse degrees of interannual water level variation. Genetic structure was globally very weak (FST = 0.0208) but spatially variable with mean level of differentiation in the upstream section of the studied area being threefold higher (FST = 0.0297) than observed in the downstream sector (FST = 0.0100). Beside interannual water level fluctuation, 19 additional variables were considered and a multiple regression on distance matrices model (R2 = 0.6397, P < 0.001) revealed that water masses (b = 0.3617, P < 0.001) and man‐made dams (b = 0.4852, P < 0.005) reduced genetic connectivity. Local level of interannual water level stability was positively associated to the extent of genetic differentiation (b = 0.3499, P < 0.05). As water level variation impacts on yearly quality and localization of spawning habitats, our study illustrates how temporal variation in local habitat availability, caused by interannual water level fluctuations, may locally decrease population genetic structure by forcing fish to move over longer distances to find suitable habitat. This study thus represents one of the rare examples of how environmental fluctuations may influence spatial variation in the extent of population genetic structure within a given species.
Patients' perceived level of social isolation affects the prognosis of low back pain
Authors: Oliveira V.C. , Ferreira M.L. , Morso L. , Albert H.B. , Refshauge K.M. , Ferreira P.H. 
Published: September 2014

AbstractBackgroundPerceived social isolation is prevalent among patients with low back pain (LBP) and could be a potential prognostic factor for clinical outcomes following an episode of LBP.MethodsA secondary analysis of an original prospective cohort study, which investigated the validity of the Danish version of the STarT Back Screening Tool (STarT), investigated whether social isolation predicts the clinical outcomes of disability, anxiety, depression and pain catastrophizing in people with LBP. Patients with LBP of any duration (N = 204) from Middelfart, Denmark, were included. Social isolation was measured at baseline using the friendship scale (score ranges from 0 to 24, with lower values meaning higher perceived social isolation), and outcomes were measured at baseline and at 6‐month follow‐up. Regression models investigated whether social isolation at baseline predicted the outcomes at 6‐month follow‐up.ResultsSome level of social isolation was reported by 39.2% of the participants (n = 80) with 5.9% (n = 12) being very socially isolated. One‐point difference on social isolation predicted one point on a 100‐point disability scale (adjusted unstandardized coefficient: −0.91; 95% confidence interval (CI): −1.56 to −0.26). Social isolation predicted anxiety; however, a change of one point on the social isolation scale represents a difference of only 0.08 points on a 22‐point scale in anxiety (95% CI: 0.01–0.15) and is unlikely to denote clinical importance. Social isolation did not predict pain catastrophizing or depression.ConclusionsPatients' perceived social isolation predicts disability related to LBP. Further understanding of the role of social isolation in LBP is warranted.
Monolithic Composite Electrodes Comprising Silicon Nanoparticles Embedded in Lignin‐derived Carbon Fibers for Lithium‐Ion Batteries
Authors: Rios Orlando , Martha Surendra K. , McGuire Michael A. , Tenhaeff Wyatt , More Karren , Daniel Claus , Nanda Jagjit 
Published: September 2014

AbstractWe report direct manufacturing of high‐capacity carbon/silicon composite fiber electrodes for lithium‐ion batteries produced via a flexible low‐cost melt processing route, yielding low‐cost stable silicon particles coated in situ by a 10 nanometer thick protective silica layer. The core–shell silicon/SiO2 islands are embedded in electrochemically active and electronically conductive carbon fiber derived from lignin precursor material. The silicon–silica–carbon composites exhibit capacities exceeding 700 mAh g−1 with Coulombic efficiencies in excess of 99.5 %. The high efficiency, stability, and rate capability are linked to the nanocrystalline structure and abundant, uniform nanometer‐thick SiO2 interfaces that are produced during the spinning and subsequent pyrolysis of the precursor blend.
Modeling of pressure build‐up and estimation of maximum injection rate for geological CO2 storage at the South Scania site, Sweden
Authors: Yang Zhibing , Niemi Auli , Tian Liang , Joodaki Saba , Erlström Mikael 
Published: September 2014

AbstractCarbon dioxide (CO2) injection in deep saline formations causes pressure increase which may be detrimental to the mechanical integrity of the storage reservoir. Injection induced pressure build‐up is a limiting factor for CO2 injection rates and storage capacity. In this study, we extend a semi‐analytical solution (based on one‐dimensional, two‐phase, two‐component radial flow) for application to estimate pressure build‐up and maximum injection rate of CO2 at a field site (South Scania, Sweden) using the method of superposition of image well solutions to account for the straight‐line boundaries imposed by three fault zones. The semi‐analytical approach for estimating pressure build‐up is validated by comparison to numerical simulations based on TOUGH2‐ECO2N. We analyze injection pressure sensitivity due to uncertainty in reservoir parameters as well as boundary conditions. Maximum injection rates and pressure limited capacity estimates are presented. This work demonstrates the use of semi‐analytical solutions to analyze pressure limitation on storage capacity for realistic reservoirs with irregular (non‐circular) boundaries. It is also shown that the semi‐analytical approach can also be used to evaluate the benefit of having multiple injection wells in terms of increasing the injection‐pressure‐limited storage capacity. The methodology presented in this study is useful for screening analysis of storage sites as well as for operation design and optimization where pressure build‐up as a limiting factor influences the objective function.
Cognitive stimulation in cognitively impaired individuals and cognitively healthy individuals with a family history of dementia: short‐term results from the “Allena‐Mente” randomized controlled trial
Authors: Polito Letizia , Abbondanza Simona , Vaccaro Roberta , Valle Eleonora , Davin Annalisa , Degrate Alessandro , Villani Simona , Guaita Antonio 
Published: September 2014

ObjectiveWe evaluated the short‐term efficacy of a protocol of cognitive stimulation (CS), compared with a sham intervention, on cognitive performance in cognitively healthy individuals with a family history of dementia (NDFAM) and in non‐demented individuals with cognitive impairment (CI).MethodsWe performed a randomized controlled trial of CS in NDFAM and CI. CS consisted in 10 twice weekly meetings of CS focused on a specific cognitive area. CS was compared with a sham intervention (CT) using Mini‐mental state examination (MMSE), Montreal Cognitive Assessment (MoCA), and the Corsi test. All study participants were typed for the presence of apolipoprotein E (APOE)‐Ɛ4.ResultsCognitively healthy NDFAM showed a higher net cognitive gain after CS, as reflected in their MoCA score, and a borderline significant net increase in visuospatial memory (Corsi test) compared with those receiving the CT. APOE‐Ɛ4 carriers showed a less significant improvement on the Corsi test with respect to APOE‐Ɛ4 non‐carriers. In the CI sample, the MoCA and Corsi test results did not differ between the cognitively stimulated subjects and the controls. No changes in MMSE scores were found in either sample of subjects.ConclusionsThese findings suggest that CS as structured in this study is an effective treatment in cognitively healthy individuals, whereas it is less effective in individuals with CI. Moreover, evaluation of APOE‐Ɛ4 status provided evidence of a substantial genetic contribution to the efficacy of CS on visuospatial memory as measured using the Corsi test. Copyright © 2014 John Wiley & Sons, Ltd.
Effective run‐off flow length over biological soil crusts on silty loam soils in drylands
Authors: Lázaro Roberto , Calvo‐Cases Adolfo , Lázaro Amparo , Molina Isabel 
Published: September 2014

AbstractSurface hydrological behaviour is important in drylands because it affects the distribution of soil moisture and vegetation and the hydrological functioning of slopes and catchments. Microplot scale run‐off can be relatively easily measured, i.e. by rainfall simulations. However, slope or catchment run‐off cannot be deduced from microplots, requiring long‐time monitoring, because run‐off coefficients decrease with increasing drainage area. Therefore, to determine the slope length covered by run‐off (run‐off length) is crucial to connect scales. Biological soil crusts (BSCs) are good model systems, and their hydrology at slope scale is insufficiently known. This study provides run‐off lengths from BSCs, by field factorial experiments using rainfall simulation, including two BSC types, three rain types, three antecedent soil moistures and four plot lengths. Data were analysed by generalized linear modelling, including vascular plant cover as covariates. Results were the following: (i) the real contributing area is almost always much smaller than the topographical contributing area; (ii) the BSC type is key to controlling run‐off; run‐off length reached 3 m on cyanobacterial crust, but hardly over 1 m on lichen crust; this pattern remained through rain type or soil moisture; (iii) run‐off decreased with BSC development because soil sealing disappears; porosity, biomass and roughness increase and some changes occur in the uppermost soil layer; and (iv) run‐off flow increased with both rain type and soil moisture but run‐off coefficient only with soil moisture (as larger rains increased both run‐off and infiltration); vascular plant cover had a slight effect on run‐off because it was low and random. Copyright © 2014 John Wiley & Sons, Ltd.
Seasonal changes in runoff generation in a small forested mountain catchment
Authors: Penna D. , van Meerveld H. J. , Oliviero O. , Zuecco G. , Assendelft R. S. , Dalla Fontana G. , Borga M. 
Published: September 2014

AbstractThis study aimed to investigate the seasonal variability of runoff generation processes, the sources of stream water, and the controls on the contribution of event water to streamflow for a small forested catchment in the Italian pre‐Alps. Hydrometric, isotopic, and electrical conductivity data collected between August 2012 and August 2013 revealed a marked seasonal variability in runoff responses. Noticeable differences in runoff coefficients and hydrological dynamics between summer and fall/spring rainfall events were related to antecedent moisture conditions and event size. Two‐component and three‐component hydrograph separation and end‐member mixing analysis showed an increase in event water contributions to streamflow with event size and average rainfall intensity. Event water fractions were larger during dry conditions in the summer, suggesting that stormflow generation in the summer consisted predominantly of direct channel precipitation and some saturated overland flow from the riparian zone. On the contrary, groundwater and hillslope soil water contributions dominated the streamflow response during wet conditions in fall. Seasonal differences were also noted between event water fractions computed based on isotopic and electrical conductivity data, likely because of the dilution effect during the wetter months. Copyright © 2014 John Wiley & Sons, Ltd.
CO2 absorption of sandy soil induced by rainfall pulses in a desert ecosystem
Authors: Fa Ke‐Yu , Liu Jia‐Bin , Zhang Yu‐Qing , Wu Bin , Qin Shu‐Gao , Feng Wei , Lai Zong‐Rui 
Published: September 2014

AbstractSoil CO2 flux is strongly influenced by precipitation in many ecosystem types, yet knowledge of the effects of precipitation on soil CO2 flux in semi‐arid desert ecosystems remains insufficient, particularly for sandy soils. To address this, we investigated the response of sandy soil CO2 flux to rainfall pulses in a desert ecosystem in northern China during August–September 2011. Significant changes (P < 0.05) were found in diel patterns of soil CO2 flux induced by small (2.1 mm), moderate (12.4 mm) and large (19.7 mm) precipitation events. Further analysis indicated that rainfall pulses modified the response of soil CO2 flux to soil temperature, including hysteresis between soil CO2 flux and soil temperature, with Fs higher when Ts was increasing than when Ts was decreasing, and the linear relationship between them. Moreover, our results showed that rainfall could result in absorption of atmospheric CO2 by soil, possibly owing to mass flow of CO2 induced by a gradient of gas pressure between atmosphere and soil. After each precipitation event, soil CO2 flux recovered exponentially to pre‐rainfall levels with time, with the recovery times exhibiting a positive correlation with precipitation amount. On the basis of the amounts of precipitation that occurred at our site during the measurement period (August–September), the accumulated rain‐induced carbon absorption evaluated for rainy days was 1.068 g C m−2; this corresponds approximately to 0.5–2.1% of the net primary production of a typical desert ecosystem. Thus, our results suggest that rainfall pulses can strongly influence carbon fluxes in desert ecosystems. Copyright © 2014 John Wiley & Sons, Ltd.
Immunophenotyping does not improve predictivity of the local lymph node assay in mice
Authors: Strauss Volker , Kolle Susanne N. , Honarvar Naveed , Dammann Martina , Groeters Sibylle , Faulhammer Frank , Landsiedel Robert , van Ravenzwaay Bennard 
Published: September 2014

AbstractThe local lymph node assay (LLNA) is a regulatory accepted test for the identification of skin sensitizing substances by measuring radioactive thymidine incorporation into the lymph node. However, there is evidence that LLNA is overestimating the sensitization potential of certain substance classes in particular those exerting skin irritation. Some reports describe the additional use of flow cytometry‐based immunophenotyping to better discriminate irritants from sensitizing irritants in LLNA. In the present study, the 22 performance standards plus 8 surfactants were assessed using the radioactive LLNA method. In addition, lymph node cells were immunophenotyped to evaluate the specificity of the lymph node response using cell surface markers such as B220 or CD19, CD3, CD4, CD8, I‐Aκ and CD69 with the aim to allow a better discrimination above all between irritants and sensitizers, but also non‐irritating sensitizers and non‐sensitizers. However, the markers assessed in this study do not sufficiently differentiate between irritants and irritant sensitizers and therefore did not improve the predictive capacity of the LLNA. Copyright © 2014 John Wiley & Sons, Ltd.
A representative retinoid X receptor antagonist UVI3003 induced teratogenesis in zebrafish embryos
Authors: Zheng Liang , Xu Ting , Li Daoji , Zhou Junliang 
Published: September 2014

AbstractRetinoid X receptor (RXR) interfering activity has been detected in different water resources. To study RXR disruptor‐induced toxicological effects on vertebrates, embryos of zebrafish (Danio rerio) were exposed to a representative RXR antagonist UVI3003. Results showed that the teratogenic index (LC50/EC50) of UVI3003 was as high as 5.4. UVI3003 induced multiple malformations of embryos, including deformed fins, reduced brains, small jaws, bent tails and edema in hearts, the degree of which became more severe with increasing exposure concentration. Although no significant difference was observed in the hatching rates between the exposure group and control, the whole body length was significantly reduced by 6.5% and 8.9% when exposed to 200 and 300 µg l−1 of UVI3003, respectively. The heart rate also significantly decreased by 8.8–50.2% during exposure. Further experiments revealed that the pharyngula stage was the most sensitive development phase in terms of embryo response to UVI3003. The results demonstrated severe teratogenicity of RXR antagonist in zebrafish embryos and provided important data for ecotoxicological evaluation of RXR antagonists. Copyright © 2014 John Wiley & Sons, Ltd.
Antioxidant capacity of broccoli sprouts subjected to gastrointestinal digestion
Authors: Rychlik Joanna , Olejnik Anna , Olkowicz Mariola , Kowalska Katarzyna , Juzwa Wojciech , Myszka Kamila , Dembczyński Radosław , Moyer Mary Pat , Grajek Włodzimierz 
Published: September 2014

AbstractBACKGROUNDBroccoli is a common vegetable recognized as a rich source of antioxidants. To date, research on the antioxidant properties of broccoli, predominantly conducted on extracts, has not considered the lesions of composition and this activity after gastrointestinal digestion. Here the stability of antioxidants during gastrointestinal digestion was evaluated in conjunction with the protective effects of broccoli sprouts (BS) against oxidative stress in human colon cells.RESULTSThe obtained data suggest that, among the biocompounds identified in BS, glucosinolates were mainly degraded under gastrointestinal digestion, while phenolics, particularly hydroxycinnamic acid derivatives, were the most resistant constituents. The antioxidant capacity of BS extract subjected to gastrointestinal digestion was similar to or higher than that determined for non‐digested BS. Gastrointestinal digested BS extract exhibited reactive oxygen species (ROS)‐inhibitory capacity in NCM460 human colon cells, with 1 mg mL−1 showing an ROS clearance of 76.59%. A 57.33% reduction in oxidative DNA damage in NCM460 cells due to treatment with digested BS extract was observed.CONCLUSIONThe results lend support to the possible application of BS as a rich source of antioxidants to improve the defensive system against oxidative stress in the human colon mucosa. © 2014 Society of Chemical Industry