bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility
Authors: Sambuughin Nyamkhishig , Zvaritch Elena , Kraeva Natasha , Sizova Olga , Sivak Erica , Dickson Kelley , Weglinski Margaret , Capacchione John , Muldoon Sheila , Riazi Sheila , Hamilton Susan , Brandom Barbara , MacLennan David H. 
Published: June 2014

AbstractWhole exome sequencing (WES) was used to determine the primary cause of muscle disorder in a family diagnosed with a mild, undetermined myopathy and malignant hyperthermia (MH) susceptibility (MHS). WES revealed the compound heterozygous mutations, p.Ile235Asn and p.Glu982Lys, in ATP2A1, encoding the sarco(endo)plasmic reticulum Ca2+ ATPase type 1 (SERCA1), a calcium pump, expressed in fast‐twitch muscles. Recessive mutations in ATP2A1 are known to cause Brody myopathy, a rare muscle disorder characterized by exercise‐induced impairment of muscle relaxation and stiffness. Analyses of affected muscles showed the absence of SERCA1, but SERCA2 upregulation in slow and fast myofibers, suggesting a compensatory mechanism that partially restores the diminished Ca2+ transport in Brody myopathy. This compensatory adaptation to the lack of SERCA1 Ca2+ pumping activity within the muscle explains, in part, the mild course of disease in our patient. Diagnosis of MHS in this family was secondary to a loss of SERCA1 due to disease‐associated mutations. Although there are obvious differences in clinical expression and molecular mechanisms between MH and Brody myopathy, a feature common to both conditions is elevated myoplasmic Ca2+ content. Prolonged intracellular Ca2+ elevation is likely to have led to MHS diagnosis in vitro and postoperative MH‐like symptoms in Brody patient.
Factors associated with concordance between parental‐reported use and dispensed asthma drugs in adolescents: findings from the BAMSE birth cohort
Authors: Dahlén Elin , Almqvist Catarina , Bergström Anna , Wettermark Björn , Kull Inger 
Published: June 2014

ABSTRACTPurposePharmacological treatment is important in asthma care, but there are methodological challenges in measuring how drugs are used by patients. The aim of this study was to investigate the concordance between register data on dispensed drugs and parental‐reported use of asthma drugs in adolescents.MethodsA cross‐sectional study comparing data on dispensed drugs from the Swedish Prescribed Drug Register with data on parental‐reported use of asthma drugs among 3 316 adolescents (age 11–14 years) in a population‐based birth cohort in Sweden. Sensitivity, specificity, and positive predicted value for different time windows (3, 6, 12, 18, and 24 months) for dispensing in the register were computed. Logistic regression was used to explore factors associated with concordance.ResultsThe prevalence of parental‐reported use of asthma drugs in the past year was 10.7% (n = 356) compared with 8.1% (n = 269) for dispensed drugs according to the register (p ≤ 0.001). The sensitivity increased with an extended time window in the register, whereas the specificity remained high up to 18 months. Although 90% of the adolescents with asthma had parental‐reported use of asthma drugs, 30% of them had no such drugs dispensed in the preceding 18 months. The highest concordance was seen for adolescents with severe asthma (OR 4.6, CI 1.2–17.6).ConclusionsAn 18‐month window is preferable when using dispensing data to study the use of asthma drugs. Still, many adolescents with reported drug use had not purchased any asthma drug in this period. The concordance between parental‐reported use and dispensed drugs is higher for adolescents with severe asthma. Copyright © 2014 John Wiley & Sons, Ltd.
Pediatric psycho‐oncology care: standards, guidelines, and consensus reports
Authors: Wiener Lori , Viola Adrienne , Koretski Julia , Perper Emily Diana , Patenaude Andrea Farkas 
Published: June 2014

AbstractObjectiveThe aim of this study was to identify existing guidelines, standards, or consensus‐based reports for psychosocial care of children with cancer and their families.PurposePsychosocial standards of care for children with cancer can systematize the approach to care and create a replicable model that can be utilized in pediatric hospitals around the world. Determining gaps in existing standards in pediatric psycho‐oncology can guide development of useful evidence‐based and consensus‐based standards.MethodsThe MEDLINE and PubMed databases were searched by investigators at two major pediatric oncology centers for existing guidelines, consensus‐based reports, or standards for psychosocial care of patients with pediatric cancer and their families published in peer‐reviewed journals in English between 1980 and 2013.ResultsWe located 27 articles about psychosocial care that met inclusion criteria: 5 set forth standards, 19 were guidelines, and 3 were consensus‐based reports. None was sufficiently up to date, comprehensive, specific enough, or evidence‐ or consensus‐based to serve as a current standard for psychosocial care for children with cancer and their families.ConclusionDespite calls by a number of international pediatric oncology and psycho‐oncology professional organizations about the urgency of addressing the psychosocial needs of the child with cancer to reduce suffering, there remains a need for development of a widely acceptable, evidence‐based and consensus‐based, comprehensive standard of care to guide provision of essential psychosocial services to all patients with pediatric cancer. Published 2014. This article is a U.S. Government work and is in the public domain in the USA.
Drug development: EU paediatric legislation, the European Medicines Agency and its Paediatric Committee—adolescents’ melanoma as a paradigm
Authors: Rose Klaus , Senn Stephen 
Published: June 2014

AbstractThe European Medicines Agency (EMA) website lists all diseases that officially exist in adults only. The class waiver for juvenile melanoma was revoked in 2008 referring to US SEER statistics. This statistical justification is misleading. Melanoma in adolescents is much rarer than claimed by EMA/Paediatric Committee; < 1 ∕ 4 of adolescents with melanoma need systemic treatment; separate efficacy studies are neither medically justified nor feasible. The scarce adolescent patients should be allowed to participate in adult trials. To force companies to investigate them separately turns them into paediatric hostages, to adapt the term therapeutic orphans coined in 1968 by Shirkey. There are now five melanoma Paediatric Investigation Plans (PIPs). Probably none of the PIP‐triggered clinical studies will ever be completed; we propose to call them ghost studies. An oncology research network considering a reasonable trial in melanoma, including adolescents, will compete for recruitment with the PIP‐triggered trials designed by regulatory tunnel vision and sponsored by companies under EMA‐imposed pressure. EMA/Paediatric Committee's territorial enthusiasm (“our patients”) damages oncology research. Copyright © 2014 John Wiley & Sons, Ltd.
Assimilation of SSMIS and ASCAT data and the replacement of highly uncertain estimates in the Environment Canada Regional Ice Prediction System
Authors: Buehner M. , Caya A. , Carrieres T. , Pogson L. 
Published: June 2014

AbstractThis study describes the impact from three major modifications to an existing ice‐analysis system developed at Environment Canada. The analysis component of the Regional Ice Prediction System currently provides near real‐time gridded estimates of ice concentration for all ice‐affected areas around North America and Greenland, and is primarily aimed to satisfy the operational requirements of the Canadian Ice Service. The first modification is the assimilation of Special Sensor Microwave Imager/Sounder data from three satellite platforms to complement the already assimilated Special Sensor Microwave Imager data from one platform. The second change is the assimilation of ice‐concentration information derived from Advanced Scatterometer data. The third modification is to replace the ice concentration in the analysis with spatially interpolated values for all grid points where an estimated measure of uncertainty is above a specified threshold. Objective verification scores were computed from 1 year experiments spanning all of 2010 using independent verification data to evaluate the accuracy of the analyses. The incremental impact of adding each of the three modifications is examined along with the combined impact from the three modifications. It is demonstrated that the new version of the system produces consistently more accurate ice‐concentration analyses than the previous version, especially during the summer period and when the ice is refreezing.
Brief Report: Reduced Expression of CD18 Leads to the In Vivo Expansion of Hematopoietic Stem Cells in Mouse Bone Marrow
Authors: Leon-Rico Diego , Aldea Montserrat , Sanchez Rebeca , Segovia José C. , Weiss Linnea A. , Hidalgo Andrés , Bueren Juan A. , Almarza Elena 
Published: June 2014

AbstractLeukocyte adhesion deficiency type-I is a primary immunodeficiency caused by mutations in the ITGB2 gene (CD18 leukocyte integrin) which lead to defects in leukocyte extravasation. To investigate the role of CD18 in hematopoietic stem cell (HSC) biology, we have thoroughly characterized the HSCs of CD18 Itgb2tm1bay hypomorphic mice (CD18HYP) both by flow cytometry and using in vitro and in vivo transplantation assays. Flow cytometry analyses and cultures in methyl cellulose revealed that bone marrow (BM) from CD18HYP mice was enriched in hematopoietic precursors, mainly early quiescent short-term and long-term Hematopoietic progenitors cells. Strikingly, BM competition assays showed a progressive expansion of CD18HYP-derived hematopoiesis in recipient mice. Additionally, we provide evidence that this HSC expansion was not caused by an increased homing capacity of CD18HYP HSCs or by alterations in the hematopoietic environment of CD18HYP mice due to defects in neutrophils clearance. On the contrary, our data demonstrated that the reduced expression of CD18 causes a cell-autonomous expansion in the HSC compartment, thus revealing unexpected regulatory functions for CD18 in mouse HSCs. Stem Cells 2014;32:2794–2798
The simulation error caused by input loading variability in offshore wind turbine structural analysis
Authors: Zwick Daniel , Muskulus Michael 
Published: June 2014

AbstractStochastic representations of turbulent wind and irregular waves are used in time domain simulations of offshore wind turbines. The variability due to finite sampling of this input loading is an important source of simulation error. For the OC4 reference jacket structure with a 5 MW wind turbine, an error of 12–34% for ultimate loads and 6–12% for fatigue loads can occur with a probability of 1%, for simulations with a total simulation length of 60 min and various load cases. In terms of fatigue life, in the worst case, the lifetime of a joint was thereby overestimated by 29%. The size of this error can be critical, i.e., ultimate or fatigue limits can be exceeded, with probability depending on the choice of number of random seeds and simulation length. The analysis is based on a large simulation study with about 30,000 time domain simulations. Probability density functions of response variables are estimated and analyzed in terms of confidence intervals; i.e., how probable it is to obtain results significantly different from the expected value when using a finite number of simulations. This simulation error can be reduced to the same extent, either using several short simulations with different stochastic representations of the wind field or one long simulation with corresponding total length of the wind field. When using several short‐term simulations, it is important that ultimate and fatigue loads are calculated based on the complete, properly combined set of results, in order to prevent a systematic bias in the estimated loads. Copyright © 2014 John Wiley & Sons, Ltd.
Hybrid ensemble of classifiers for logo and trademark symbols recognition
Authors: Cyganek Bogusław 
Published: June 2014

Abstract
The paper presents a hybrid ensemble of diverse classifiers for logo and trademark symbols recognition. The proposed ensemble is composed of four types of different member classifiers. The first one compares color distribution of the logo patterns and is responsible for sifting out images of different color distribution. The second of the classifiers is based on the structural tensor recognition of local phase histograms. A proposed modification in this module consists of tensor computation in the space of the morphological scale-space. Thanks to this, more discriminative histograms describing global shapes are obtained. Next in the chain, is a novel member classifier that joins the Hausdorff distance with the correspondence measure of the log-polar patches computed around the corner points. This sparse classifier allows reliable comparison of even highly deformed patterns. The last member classifier relies on the statistical affine moment invariants which describe global shapes. However, a real advantage is obtained by joining the aforementioned base classifiers into a hybrid ensemble of classifiers, as proposed in this paper. Thanks to this a more accurate response and generalizing properties are obtained at reasonable computational requirements. Experimental results show good recognition accuracy even for the highly deformed logo patterns, as well as fair generalization properties which support human search and logo assessment tasks.
Variation in leaf nitrogen and phosphorus stoichiometry in the nitrogen‐fixing Chinese sea‐buckthorn (Hippophae rhamnoides L. subsp. sinensis Rousi) across northern China
Authors: Li Xiaowei , Sun Kun , Li Frank Yonghong 
Published: June 2014

AbstractNitrogen (N) and phosphorus (P) concentrations and N:P ratios in terrestrial plants and their patterns of change along environmental gradients are important traits for plant adaptation to changes. We determined the leaf N and P concentrations of Chinese sea‐buckthorn (Hippophae rhamnoides L. subsp. sinensis Rousi), a non‐legume species with symbiotic N fixation (SNF), at 37 sites across northern China and explored their geographical patterns in relation to climate and soil factors. (1) The mean leaf N, P, and N:P ratio were 36.5, 2.1 mg g−1, and 17.6, respectively, higher than the mean values of most shrub species in the region. (2) Leaf N was correlated with soil mineral N in cool areas (mean annual temperature MAT <3 °C) but with temperature in warm areas (MAT >3 °C). The high leaf N and divergent leaf N–soil N relationship suggested the importance of SNF in plant N uptake; SNF increases with temperature and is probably the major N source in warm areas. (3) Leaf P was positively related to mean annual precipitation. Leaf N:P ratio was primarily driven by changes in leaf P. The high leaf P reflected the greater requirements of the N‐fixing species for P. Our results represent a major advance in understanding the elemental stoichiometry of non‐legume N‐fixing plants, indicating high P and N requirements and a shift in N source from SNF to soil as temperature declines. This knowledge will help in assessing the habitat suitability for the species and predicting the species dynamics under environmental changes.
Research and Application of Recyclable Nitrogen Foam Horizontal Well Drilling Technology in the Daniudi Gas Field
Authors: Tang Ming , He Shiming , Xiong Jiyou , Zheng Fenghui 
Published: June 2014

AbstractThe Daniudi gas field is typically rich in ultra‐low permeability gas reservoirs in China, but its development is difficult. In this paper, pilot implementation of underbalanced horizontal well drilling technology was used in the H1 gas reservoir to develop the proved reserves effectively. Owing to the limitations of drilling technology and environmental protection, the recyclable nitrogen‐foam was ultimately chosen as a circulating medium. Through theoretical analysis and extensive laboratory tests, the optimal foaming agent composed of α‐olefin sulfonate and coco amine oxide was selected among six anionic surfactants/zwitterionic surfactants systems. The developed recyclable nitrogen‐foam has high salt resistance, temperature resistance and cycle performance, but weaker oil resistance. After the recyclable nitrogen‐foam horizontal well drilling technology was used in the H1 gas reservoir, the average rate of penetration of horizontal section increased by 118 %, ignition could be achieved during drilling and natural gas was of great potential for production. It was the first time to increase natural gas production capacity in the H1 gas reservoir using recyclable nitrogen‐foam horizontal well drilling technology. Successful application of this technology provides technical reserves for the effective development of the H1 gas reservoir.
Synthesis and Characterization of Some Nonionic Bolaamphiphiles
Authors: Khalfallah Ali , Ayari Abdelhamid , Kriaa Abdelkader , Hedhli Ahmed 
Published: June 2014

AbstractA series of nonionic bolaamphiphiles were synthesized from the reaction of fluoroalkylene (dimercaptoacetates) with maleate crown ethers. Surface activity of the new surfactants was evaluated on the basis of surface tension measurements. The new fluorinated bolamphiphiles exhibit a remarkable lowering of surface tension in comparison with nonfluorinated analogues.
Mental Health Problems are Associated with Low-Frequency Fluctuations in Reaction Time in A Large General Population Sample. The TRAILS Study
Authors: Bastiaansen J.A. , van Roon A.M. , Buitelaar J.K. , Oldehinkel A.J. 
Published: June 2014

AbstractBackground:Increased intra-subject reaction time variability (RT-ISV) as coarsely measured by the standard deviation (RT-SD) has been associated with many forms of psychopathology. Low-frequency RT fluctuations, which have been associated with intrinsic brain rhythms occurring approximately every 15–40 s, have been shown to add unique information for ADHD. In this study, we investigated whether these fluctuations also relate to attentional problems in the general population, and contribute to the two major domains of psychopathology: externalizing and internalizing problems.Methods:RT was monitored throughout a self-paced sustained attention task (duration: 9.1 ± 1.2 min) in a Dutch population cohort of young adults (n = 1455, mean age: 19.0 ± 0.6 years, 55.1% girls). To characterize temporal fluctuations in RT, we performed direct Fourier Transform on externally validated frequency bands based on frequency ranges of neuronal oscillations: Slow-5 (0.010–0.027 Hz), Slow-4 (0.027–0.073 Hz), and three additional higher frequency bands. Relative magnitude of Slow-4 fluctuations was the primary predictor in regression models for attentional, internalizing and externalizing problems (measured by the Adult Self-Report questionnaire). Additionally, stepwise regression models were created to investigate (a) whether Slow-4 significantly improved the prediction of problem behaviors beyond the RT-SD and (b) whether the other frequency bands provided important additional information.Results:The magnitude of Slow-4 fluctuations significantly predicted attentional and externalizing problems and even improved model fit after modeling RT-SD first (R2 change = 0.6%, P < .01). Subsequently, adding Slow-5 explained additional variance for externalizing problems (R2 change = 0.4%, P < .05). For internalizing problems, only RT-SD made a significant contribution to the regression model (R2 = 0.5%, P < .01), that is, none of the frequency bands provided additional information.Conclusions:Low-frequency RT fluctuations have added predictive value for attentional and externalizing, but not internalizing problems beyond global differences in variability. This study extends previous findings in clinical samples of children with ADHD to adolescents from the general population and demonstrates that deconstructing RT-ISV into temporal components can provide more distinctive information for different domains of psychopathology.
Balancing a House of Cards: Throughput legitimacy in Canadian Governance Networks
Authors: Doberstein Carey , Millar Heather 
Published: June 2014

AbstractThis article examines the interaction of different modes and levels of legitimacy within network governance institutions over time. Drawing on new theoretical directions in European governance studies and empirical findings from Canada, we contend that whereas input legitimacy can be exchanged, or traded-off, with output legitimacy to reinforce the overall legitimacy of a network governance institution, “throughput legitimacy” functions as a necessary condition that sustains legitimacy over time. Through a comparison of homelessness governance networks in Toronto and Calgary, we find that throughput legitimacy carries an amplification effect that results in either virtuous or vicious cycles. That is, we argue and demonstrate that low throughput legitimacy in network governance institutions can effectively bring down the whole house of cards.
L'immigration : Une menace pour la culture québécoise? Portrait et analyses des perceptions régionales
Authors: Bilodeau Antoine , Turgeon Luc 
Published: June 2014

RésuméLa question de l'immigration a été au cœur des débats politiques québécois au cours des dix dernières années. Les controverses qu'elle a suscitées ont fait en outre ressortir l'insécurité culturelle des Québécois et la perception que l'immigration constituait, pour de nombreux citoyens, une menace à la culture québécoise. Ces débats donnent aussi à penser qu'il existe des clivages régionaux quant à la manière de percevoir l'immigration. Mais qu'en est-il vraiment ? Un sentiment d'insécurité culturelle par rapport à l'immigration est-il vraiment plus fort en région ? Y a-t-il vraiment des variations régionales et, le cas échéant, quelles en seraient les causes ? Cet article examine ces questions à l'aide d'un sondage de près de 30 000 Québécois francophones réalisé au printemps 2011. Les résultats montrent qu'il existe des variations régionales importantes mais suggèrent, par contre, que ce ne sont pas les francophones des régions éloignées qui sont les plus enclins à percevoir l'immigration comme une menace à la culture québécoise. En fait, ce seraient plutôt les francophones de la périphérie de Montréal qui se sentiraient le plus menacés par l'immigration, suggérant ainsi un certain effet « halo ». Les résultats suggèrent aussi que les clivages entre les régions sont plus prononcés au sein des plus jeunes générations.
The research–implementation gap: how practitioners and researchers from developing countries perceive the role of peer-reviewed literature in conservation science
Authors: Gossa Céline , Fisher Martin , Milner-Gulland E. J. 
Published: June 2014

AbstractConservation research has a poor record of translating science into action. Previous surveys have investigated the lack of information exchange between researchers and practitioners by focusing on the uptake of peer-reviewed literature by practitioners from developed countries. They largely ignore conservation practitioners and researchers from developing countries, for whom accessing scientific data may be more difficult. This survey investigates how practitioners and researchers from developing countries access the scientific information needed in their work, and the place of peer-reviewed literature in this process. Our results suggest that practitioners access and use peer-reviewed literature; however, both practitioners and researchers mainly obtain information from open-access journals and do not base their choice on a journal's Impact Factor. Furthermore, researchers and practitioners in developing countries appear to be looking for more direct collaboration to ensure research is relevant to their needs, as well as more open-access journals and new ways to disseminate information.