bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of Restless Legs Syndrome Genes by Mutational Load Analysis
Authors: Tilch Erik , Schormair Barbara , Zhao Chen , Salminen Aaro V. , Antic Nikolic Ana , Holzknecht Evi , Högl Birgit , Poewe Werner , Bachmann Cornelius G. , Paulus Walter , Trenkwalder Claudia , Oertel Wolfgang H. , Hornyak Magdolna , Fietze Ingo , Berger Klaus , Lichtner Peter , Gieger Christian , Peters Annette , Müller‐Myhsok Bertram , Hoischen Alexander , Winkelmann Juliane , Oexle Konrad 
Published: December 2019

ObjectiveRestless legs syndrome is a frequent neurological disorder with substantial burden on individual well‐being and public health. Genetic risk loci have been identified, but the causatives genes at these loci are largely unknown, so that functional investigation and clinical translation of molecular research data are still inhibited. To identify putatively causative genes, we searched for highly significant mutational burden in candidate genes.MethodsWe analyzed 84 candidate genes in 4,649 patients and 4,982 controls by next generation sequencing using molecular inversion probes that targeted mainly coding regions. The burden of low‐frequency and rare variants was assessed, and in addition, an algorithm (binomial performance deviation analysis) was established to estimate independently the sequence variation in the probe binding regions from the variation in sequencing depth.ResultsHighly significant results (considering the number of genes in the genome) of the conventional burden test and the binomial performance deviation analysis overlapped significantly. Fourteen genes were highly significant by one method and confirmed with Bonferroni‐corrected significance by the other to show a differential burden of low‐frequency and rare variants in restless legs syndrome. Nine of them (AAGAB, ATP2C1, CNTN4, COL6A6, CRBN, GLO1, NTNG1, STEAP4, VAV3) resided in the vicinity of known restless legs syndrome loci, whereas 5 (BBS7, CADM1, CREB5, NRG3, SUN1) have not previously been associated with restless legs syndrome. Burden test and binomial performance deviation analysis also converged significantly in fine‐mapping potentially causative domains within these genes.InterpretationDifferential burden with intragenic low‐frequency variants reveals putatively causative genes in restless legs syndrome. ANN NEUROL 2020;87:184–193
Activating Pronucleophiles with High pKa Values: Chiral Organo‐Superbases
Authors: Wang Yu‐Hui , Cao Zhong‐Yan , Li Qing‐Hua , Lin Guo‐Qiang , Zhou Jian , Tian Ping 
Published: December 2019

AbstractDirect deprotonation represents an extremely simple, straightforward, and atom‐economic strategy to activate pronucleophiles bearing an acidic proton. However, the difficulty often arises in activating pronucleophiles with high pKa values by using conventional chiral tertiary amines. To overcome this challenge, a handful of novel chiral Brønsted superbases, including amidines, guanidines, cyclopropenimines, and iminophosphoranes, have been discovered in recent years. This minireview focuses on the application of these organo‐superbases in the catalytic asymmetric reactions of weakly acidic pronucleophiles, and highlights their comparison to the conventional tertiary amines, demonstrating the highly efficient deprotonation processes and stereoselectivity controlled conversions of the superbases. The advantage of these new superbases brings a great opportunity for developing more asymmetric transformations of weakly acidic pronucleophiles.
A Multi‐Wall Sn/SnO2@Carbon Hollow Nanofiber Anode Material for High‐Rate and Long‐Life Lithium‐Ion Batteries
Authors: Gao Songwei , Wang Nü , Li Shuai , Li Dianming , Cui Zhimin , Yue Guichu , Liu Jingchong , Zhao Xiaoxian , Jiang Lei , Zhao Yong 
Published: December 2019

AbstractMulti‐wall Sn/SnO2@carbon hollow nanofibers evolved from SnO2 nanofibers are designed and programable synthesized by electrospinning, polypyrrole coating, and annealing reduction. The synthesized hollow nanofibers have a special wire‐in‐double‐wall‐tube structure with larger specific surface area and abundant inner spaces, which can provide effective contacting area of electrolyte with electrode materials and more active sites for redox reaction. It shows excellent cycling stability by virtue of effectively alleviating pulverization of tin‐based electrode materials caused by volume expansion. Even after 2000 cycles, the wire‐in‐double‐wall‐tube Sn/SnO2@carbon nanofibers exhibit a high specific capacity of 986.3 mAh g−1 (1 A g−1) and still maintains 508.2 mAh g−1 at high current density of 5 A g−1. This outstanding electrochemical performance suggests the multi‐wall Sn/SnO2@ carbon hollow nanofibers are great promising for high performance energy storage systems.
Using Cumulative Load to Explain How Body Mass Index and Daily Walking Relate to Worsening Knee Cartilage Damage Over Two Years: The MOST Study
Authors: Voinier Dana , Neogi Tuhina , Stefanik Joshua J. , Guermazi Ali , Roemer Frank W. , Thoma Louise M. , Master Hiral , Nevitt Michael C. , Lewis Cora E. , Torner James , White Daniel K. 
Published: December 2019

ObjectiveKnee cartilage damage is often linked to mechanical overloading. However, cartilage requires mechanical load to remain healthy, suggesting that underloading may be detrimental. This study was undertaken to examine knee overloading and underloading by defining cumulative load as the joint effects of body mass index (BMI) and daily walking, and examine the relationship between cumulative load and worsening cartilage damage over 2 years.MethodsWe used data from the Multicenter Osteoarthritis Study. Steps/day, measured by accelerometry, and BMI were calculated at the 60‐month visit. Cartilage damage on magnetic resonance imaging was semiquantitatively scored using the Whole‐Organ Magnetic Resonance Imaging Score (WORMS) at the 60‐month and 84‐month visits; worsening damage was defined as increased WORMS between visits. Risk ratios (RRs) and 95% confidence intervals (95% CIs) were calculated using binomial regression, with adjustment for potential confounders.ResultsOur study included 964 participants, 62% of whom were female, with a mean ± SD age of 66.9 ± 7.5 years. Participants had a mean ± SD BMI of 29.7 ± 4.8 kg/m2 and walked a mean ± SD of 7,153 ± 2,591 steps/day. Participants who walked a moderate number of steps/day (6,000–7,900) or a high number of steps/day (>7,900) and had a high BMI (>31 kg/m2) had a greater risk of worsening medial tibiofemoral (TF) damage (RR 2.83 [95% CI 1.46–5.48] and RR 2.61 [95% CI 1.50–4.54], respectively) compared with those who walked similar steps/day and had a low BMI (18–27 kg/m2). Participants with a low number of steps/day (<6,000) and a low BMI had a greater risk of worsening medial TF and lateral patellofemoral (PF) damage (RR 2.03 [95% CI 1.06–3.92] and RR 2.28 [95% CI 1.06–4.85], respectively) compared with those who walked a high number of steps/day and had a low BMI. Effect estimates for other compartments of the knee did not reach statistical significance.ConclusionThis study provides preliminary evidence that both overloading and underloading may be detrimental to medial TF cartilage, and underloading may be detrimental to lateral PF cartilage.
Metabolic flux analysis of Saccharomyces cerevisiae during redox potential–controlled very high‐gravity ethanol fermentation
Authors: Zhang Yishuang , Lin Yen‐Han 
Published: December 2019

AbstractA previously published genome‐scale metabolic model namely iFF708 was modified to depict the metabolic flux distribution within Saccharomyces cerevisiae grown under a redox potential–controlled very high‐gravity condition. The following modifications were made: electron transport chain (ETC) and oxidative phosphorylation, proton gradient and ATP transportation, and malate–aspartate shuttle. With these modifications, this model could describe the experimental data collected from the above‐mentioned ethanol fermentation. As a result, the simulation unveiled that the P/O ratio is critical under microaerobic conditions and the malate–aspartate shuttle is inactivated due to the shortage of electron transport across mitochondria. In other words, the limited supply of oxygen suppresses the functionality of oxidative phosphorylation, tricarboxylic acid (TCA) cycle, and ETC. In terms of the glycolytic pathway, fluxes coming from glucose‐6‐phosphate and pyruvate nodes are insensitive to the changes of fermentation redox potential. As the initial glucose concentration is greater than 250 g/L, the interactive effect between the initial glucose concentration and redox potential level becomes noticeable.
Bauphysikalische Untersuchung von Sandwichelementen
Authors: Harder Nadine , Klett Yves , Park Sumee , Leistner Philip , Middendorf Peter 
Published: December 2019

AbstractSandwichkonstruktionen kommen im Leichtbau, vor allem im Flugzeugbau, im Transportwesen, dem Bauwesen oder auch im Möbelbau zum Einsatz. Sie sind aufgrund des geringen Flächengewichts und der Vielfältigkeit flexibel einsetzbar. Sandwichkonstruktionen bestehen typischerweise aus zwei Deckschichten, die im Verbund mit einer leichten Kernschicht Strukturen mit hohen gewichtsspezifischen Steifigkeiten und Festigkeiten bereitstellen können. Als Kern kommen derzeit meist Schäume, Hölzer oder Wabenstrukturen zum Einsatz. Leichte Sandwichkonstruktionen mit neuartigen, zellulären Faltkernen bieten aufgrund ihrer Vielfältigkeit Potenzial für die Anwendung im Bauwesen. Sie sind als leichte raumtrennende Elemente und gleichzeitig als aktive konditionierbare Elemente denkbar. Damit sind multifunktionale Konstruktionen möglich, die helfen können, Masse und Energie einzusparen sowie gleichzeitig eine komfortable Umgebung bereitzustellen.
ISO 14001 and CO2 emissions: An analysis of the contingent role of country features
Authors: Garrido Elisabet , González Consuelo , Orcos Raquel 
Published: December 2019

AbstractThis study explores whether the association between the aggregate level of ISO 14001 adoption in a country and the reduction of its CO2 emissions differs across national settings. We analyze potential variations in three country features: intensity of competition, inclination of firms to behave ethically, and the importance that firms attach to relationships with stakeholders. Based on a sample of 53 countries for the period 2007–2017, our results show that the connection between the aggregate level of ISO 14001 adoption and lower levels of CO2 emissions is stronger in countries where firms tend to behave ethically but is weaker in countries where there is intense competition or where firms place high emphasis on relationships with stakeholders. These findings expand our understanding about the macrolevel consequences of ISO 14001 adoption.
Correlates of substance use in pregnant women under community supervision after conviction for a criminal offence: The role of psychological distress
Authors: Ellis Jennifer Danielle , Grekin Emily R. , Resko Stella M. 
Published: December 2019

AbstractBackgroundBeing pregnant while under community supervision after conviction for a criminal offence can be a highly stressful experience, and pregnant women under community supervision are at an elevated risk for substance use.Aims/HypothesesTo test for relationships between psychological distress and use of tobacco, alcohol, or marijuana during the month prior to a research assessment among pregnant women under community supervision, controlling for demographic characteristics.MethodsData from the National Survey on Drug Use and Health were aggregated for the years 2008–2016, inclusive. Logistic regression analyses were conducted to examine correlates of past‐month use of each substance.ResultsOf all 505,796 people in the survey, 6,974 were pregnant women of whom 280 reported being under community supervision for a criminal offence; relevant data were available for 271 of these cases. The pregnant women under community supervision reported higher rates of past‐month substance use of each kind and of psychological distress than pregnant women not under community supervision. Past‐month serious psychological distress, but not remitted psychological distress, corresponded strongly with past‐month alcohol use even when controlling for demographic characteristics and other substance use.ConclusionsOur findings add to the very sparse literature about a group of women likely to be exceptionally vulnerable during pregnancy and underscore the importance of screening for symptoms of substance use and of psychological distress amongst them. Among women under community supervision, alcohol use was less likely in the second or third trimester than the first, but as those using alcohol were more likely to report past month psychological distress, it may be important to provide additional resources and treatment services for these women.
Post‐procedure protocol to facilitate next‐day discharge: Results of the multidisciplinary, multimodality but minimalist TAVR study
Authors: Lauck Sandra B. , Sathananthan Janarthanan , Park Julie , Achtem Leslie , Smith Amanda , Keegan Patricia , Hawkey Marian , Brandwein Russell , Webb John G. , Wood David A. ,   the 3M TAVR Investigators, and Nursing and Allied Health Professional Site Leaders
Published: December 2019

AbstractBackgroundEvidence is lacking to standardize post‐procedure care after transcatheter aortic valve replacement (TAVR).ObjectiveWe report on the findings of the post‐procedure sub‐study of the multimodality, multidisciplinary but minimalist TAVR (3M TAVR) study.MethodsA standardized protocol to guide monitoring, early mobilization, reconditioning, communication, and criteria‐driven discharge was implemented in a multicenter, prospective, sequential case series study in 13 North American low, medium, and high‐volume centers in 2015–2017. Outcome measures pertaining to post‐procedure care included avoidance of invasive lines and delirium, in‐hospital bed utilization, patient disposition at the time of discharge, and 30‐day use of nonelective medical services.ResultsFour hundred eleven participants were enrolled. In the post‐procedure phase, 365 (88.8%) participants were admitted without a temporary pacemaker; urinary catheterization was avoided in 402 (97.8%) participants. Of note, 91.7% received care in a single unit (critical care: 72.5%; cardiac telemetry: 19.2%); 99.0% were discharged home. At the time of 30‐day follow‐up, 6 (1.6%) participants required admission to a rehabilitation or a skilled nursing facility; 30‐day emergency department visits were 13.5%.ConclusionsThe implementation of the 3M TAVR standardized accelerated reconditioning protocol is a safe and effective strategy to facilitate next‐day discharge home after TAVR in centers of varying size.
Detection and characterization of the new synthetic cannabinoid APP‐BINACA in forensic casework
Authors: Krotulski Alex J. , Mohr Amanda L.A. , Diamond Francis X. , Logan Barry K. 
Published: December 2019

AbstractNew psychoactive substances (NPS) continue to emerge around the world. APP‐BINACA (or APP‐BUTINACA), a novel synthetic cannabinoid, was first reported in Europe in January 2019 and later in the United States in March 2019. APP‐BINACA was identified in the United States for the first time in blood sample extracts from forensic casework by liquid chromatography quadrupole time‐of‐flight mass spectrometry (LC‐QTOF‐MS). To date, APP‐BINACA has been identified in 11 forensic toxicology cases from five states and in both medicolegal death investigations and drug impaired driving investigations. APP‐BINACA was commonly found in combination with 4F‐MDMB‐BINACA. Subsequent to its discovery in biological samples, APP‐BINACA was detected and characterized in seized drug material by gas chromatography mass spectrometry (GC–MS), LC‐QTOF‐MS, and nuclear magnetic resonance (NMR) spectroscopy. Further analysis of biological specimens resulted in the identification of five metabolites, including 4‐HO‐APP‐BINACA and APP‐BINACA 3‐phenylpropanoic acid. The frequency of APP‐BINACA detection appears to be increasing and this new synthetic cannabinoid has been identified as a possible contributory factor in adverse events, including death. This is the first literature report regarding the characterization of the new synthetic cannabinoid APP‐BINACA in humans. Since it is not widely tested for, it is not yet known the extent to which APP‐BINACA is contributing to morbidity and mortality, but forensic scientists, public health officials, and others should be aware of its possible presence and impact. Laboratories should incorporate APP‐BINACA into testing workflows for detection and confirmation, where possible.
Long‐ term effects of water quality on the freshwater bivalve Diplodon chilensis (Unionida: Hyriidae) caged at different sites in a North Patagonian river (Argentina)
Authors: Yusseppone María S. , Bianchi Viginia A. , Castro Juan M. , Luquet Carlos M. , Sabatini Sebastián E. , Ríos de Molina María C. , Rocchetta Iara 
Published: December 2019

AbstractWater quality was monitored along an Andean river of global importance using the freshwater bivalve Diplodon chilensis as sentinel species. Bivalves were placed in cages at three sites (S1–3) in the Chimehuin River in order to evaluate the long‐term effects of a trout hatchery (S2) and the open dump and sewage treatment plant of a nearby city (S3). Water samples and bivalves were collected at 0, 3, 6, 9 and 12 months, from S3, S2 and from a reference site upstream (S1), and physicochemical parameters and the biological response of the caged bivalves were studied. ROS production, antioxidant response, oxidative damage, energy status and morphometric ratios were included as response biomarkers. Most of biomarkers showed site and time dependence including bivalves transplanted at S1, revealing natural variability. Both anthropogenic perturbed sites (S2 and S3) showed differences in the exposed bivalves with respect to the reference site (S1) in their biomarker responses after 9 and 12 months of exposure (July and September, respectively). Multivariate analysis showed alterations in hemocytes (ROS, TOSC and NRRT50), in energy balance in digestive gland (energy and DGF) and in the detoxification response (GST) and GSH values in gill when bivalves were exposed to hatchery waste; whereas metal and bacterial pollution (S3 in July) caused GSH increase and a reduction of lysosomal damage in hemocytes. Results show that changes in the water quality of Chimehuin River due to the anthropogenic impact can be detected using the biomarkers analysed on D. chilensis, being a useful tool for studies of long‐term monitories.
Efficiency of sustained burning of layered leaf fuels under external radiant heat flux
Authors: Wang Hai‐Hui , Yao Feng‐Qi , Tao Jun‐Jun , Zhu Feng 
Published: December 2019

SummaryEfficiency of energy release by burning of layered leaf fuels under external radiant heat flux was studied using a cone calorimeter. By performing the ignition and sustained burning measurements with coniferous and broadleaf plants, a method was developed to determine the combustion efficiency during sustained burning χc. Experimental results showed that at the same radiant heat flux, an increase in the sample mass (density) leads to substantial decrease in χc followed by a level‐off, and the increase in leaf moisture content results in significant reduction of χc. Analysis indicated that χc is essentially independent to the sample mass when a sample is constituted by three layers. By defining a ratio of the amount of CO produced to that of O2 consumed during measurement ϕCO/O2, χc was found to be well correlated by ϕCO/O2 with the form χc = 0.2166ln[0.4655/(ϕCO/O2 − 0.03177)], thereby highlighting that energy release efficiency of a sample mainly relies on the extent of O2 consumed to convert into CO. The parameter χc acts as an indicator to reveal the combustion states of a fuel during testing, and the parameter ϕCO/O2 can be used as an index to evaluate the capacity of leaf fuels to emit toxic gases in specific fire scenarios.
Semmering‐Basistunnel – Eisfreihaltung von Schächten am Beispiel des Versorgungsschachts Fröschnitz 2
Authors: Bacher Michael , Nipitsch Gernot , Fruhwirt Daniel , Sturm Peter 
Published: December 2019

AbstractThe Fröschnitz 1 and Fröschnitz 2 supply shafts of the Semmering Base Tunnel are used for the ventilation of the tunnel drives, transport of personnel, materials and machinery and as escape and rescue routes. Until the final completion of the concrete inner lining in the shafts, water still emerges repeatedly at the surface at a few locations of the shotcrete support layer. This led above all for the Fröschnitz 2 shaft to ice formation during longer periods with outside air temperatures below the freezing point of water with simultaneous operation of the fresh air supply. The effectiveness of warm air supply was investigated with thermodynamic and aerodynamic investigations and then the cost‐effectiveness of two selected systems to provide warm air were considered. The aerodynamic simulations showed that in particular the entry angle of the warm fresh air flow is decisive for the magnitude of the warm air losses.
Baubegleitende geologische Untersuchungen
Authors: Pointner Peter , Höfer‐Öllinger Giorgio 
Published: December 2019

AbstractIn addition to laboratory analysis, tests can be carried out on site to support the geological underground documentation. They should cover the important parameters on the project and be easy and time‐saving to implement. This article describes a selection of methods and their suitability for use on construction sites. The tests comprise determination of water content, grain size distribution as well as the implementation of point load and Cerchar abrasiveness tests. For all these tests, the practical application on the site of the Koralm Tunnel contract KAT 3 and implementation details are explained. For all on‐site tests, it is recommended that the results gained should be compared with the experimental procedure and the results of laboratory analyses.
Herausforderung Instandhaltung Koralmtunnel im Spannungsfeld betrieblicher Verfügbarkeit und Anlagenmehrung
Authors: Diernhofer Florian , Schneider Klaus , Steiner Helmut 
Published: December 2019

AbstractThe Koralm Tunnel (length 33 km) crossing the eastern Alps is part of the Koralmbahn line and one of the longest rail tunnels in the world. The installation of railway equipment in the tunnel is due to start soon and it is particularly important to now make current decisions considerung future developments and demands. In particular the conflicting goals of the scheduling horizon of the construction permit process nearly 20 years ago, the 150‐year design horizon and the rapid development of electronics, data processing and telematics have to be considered. Experience of operation of long rail tunnels confirms that despite all logistical efforts, the maintenance of railway equipment leads to a great expense of time and finance and also to restrictions of the line availability for operations.
Gerichtete Vollbohrung am Baulos SBT3.1 – Herausforderung Bohrgeschwindigkeit und Richtungsgenauigkeit im Störzonenbereich
Authors: Pfeffer Robert , Rohm Paul , Oppitz David 
Published: December 2019

AbstractThe Semmering Base Tunnel is being built by Austrian Federal Railways as part of the upgrading of the southern railway line. On contract SBT3.1, Züblin Spezialtiefbau Ges.m.b.H. was employed to undertake slope stabilization, piles dia. 1,500 mm embedded into the rock, as well as vertical and horizontal boreholes in the fault zones of Semmering. Due to the high requirements on drilling speed and accuracy of the boreholes, they were drilled as directional drilling with a hydraulic down‐the‐hole hammer. The vertical holes were used to install sleeve pipes for grouting works for the shaft Sommerau 2. The horizontal holes, also planned for the inclusion of sleeve pipes for grouting works, were used after on‐site rescheduling during the project for exploration and drainage of the rock mass. The drilling and survey data were subject to continual and thorough review to increase the efficiency of each control operation.