bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a novel nemaline myopathy‐Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish
Authors: Marra Jonathan D. , Engelstad Kristin E. , Ankala Arunkanth , Tanji Kurenai , Dastgir Jahannaz , De Vivo Darryl C. , Coffee Bradford , Chiriboga Claudia A. 
Published: November 2014

ABSTRACTIntroduction: Nemaline myopathy (NM) is a congenital neuromuscular disorder often characterized by hypotonia, facial weakness, skeletal muscle weakness, and the presence of rods on muscle biopsy. A rare form of nemaline myopathy known as Amish Nemaline Myopathy has only been seen in a genetically isolated cohort of Old Order Amish patients who may additionally present with tremors in the first 2–3 months of life. Methods: We describe an Hispanic male diagnosed with nemaline myopathy histopathologically and subsequently confirmed by next generation gene sequencing. Results: Direct sequencing revealed that he is homozygous for a pathogenic nonsense variant c.323C>G (p.S108X) in exon 9 of the TNNT1 gene. Conclusions: This report describes a novel pathogenic variant in the TNNT1 gene and represents a nemaline myopathy‐causing variant in the TNNT1 gene outside of the Old Order Amish and Dutch ancestry. Muscle Nerve 51:767–772, 2015
Development and Validation of Liquid Chromatography Combined with Tandem Mass Spectrometry Methods for the Quantitation of Simalikalactone E in Extracts of Quassia amara L. and in Mouse Blood
Authors: Le Hong Luyen , Jullian Valérie , Claparols Catherine , Vansteelandt Marieke , Haddad Mohamed , Cabou Cendrine , Deharo Eric , Fabre Nicolas 
Published: November 2014

AbstractIntroductionSimalikalactone E (SkE) from Quassia amara, has been proved to be a valuable anti‐malarial and anti‐cancer compound. As SkE is very scarce, methods of quantitation are needed in order to optimise its isolation process and to determine pharmacokinetic data.ObjectiveTo validate methods using liquid chromatography coupled to mass spectrometry for the quantitation of SkE in plant extracts and in biological fluids.MethodsHigh‐ and ultrahigh‐performance liquid chromatography (UHPLC) coupled to ion trap mass spectrometry (MS) with single ion monitoring detection and to triple quadrupole‐linear ion trap tandem mass spectrometry with multiple reaction monitoring detection methods were developed. Validation procedure was realised according to the International Conference on Harmonisation guideline. Methanol extracts of dried Quassia amara leaves, and mouse‐blood samples obtained after various routes of administration, were analysed for SkE.ResultsMethods were validated and gave similar results regarding the content of SkE expressed per kilogram of dry leaves in the traditional decoction (160 ± 12 mg/kg) and in the methanol extract (93 ± 2 mg/kg). The recovery of the analyte from mouse blood ranged from 80.7 to 119.8%. Simalikalactone E was only detected using UHPLC–MS/MS (0.2 ± 0.03 mg/L) in mouse blood after intravenous injection: none was detected following intraperitoneal or oral gavage administration of SkE.ConclusionThe LC–MS methods were used for the quantitation of SkE in plant extracts and in mouse blood. These methods open the way for further protocol optimisation of SkE extraction and the determination of its pharmacokinetic data. Copyright © 2014 John Wiley & Sons, Ltd.
Muscarinic M1 receptor and cannabinoid CB1 receptor do not modulate paraoxon‐induced seizures
Authors: Kow Rebecca L. , Cheng Eugene M. , Jiang Kelly , Le Joshua H. , Stella Nephi , Nathanson Neil M. 
Published: December 2014

AbstractOne of the major signs of severe organophosphate poisoning is seizures. Previous studies have shown that both muscarinic agonist‐ and organophosphate‐induced seizures require activation of muscarinic acetylcholine receptors in the central nervous system. Seizures induced by the muscarinic agonist pilocarpine require the M1 receptor and are modulated by cannabinoid CB1 receptors. In this study, we determined whether M1 and CB1 receptors also regulated seizures induced by the organophosphate paraoxon. We found no differences in seizures induced by paraoxon in wild‐type (WT) and M1 knockout (KO) mice, indicating that in contrast to pilocarpine seizures, M1 receptors are not required for paraoxon seizures. Furthermore, we found that pilocarpine administration resulted in seizure‐independent activation of ERK in the hippocampus in a M1 receptor‐dependent manner, while paraoxon did not induce seizure‐independent activation of ERK in the mouse hippocampus. This shows that pilocarpine and paraoxon activated M1 receptors in the hippocampus to different extents. There were no differences in seizures induced by paraoxon in WT and CB1 KO mice, and neither CB1 agonist nor antagonist administration had significant effects on paraoxon seizures, indicating that, in contrast to pilocarpine seizures, paraoxon seizures are not modulated by CB1 receptors. These results demonstrate that there are fundamental molecular differences in the regulation of seizures induced by pilocarpine and paraoxon.
Development of methodology for the determination of carbon isotope ratios using gas chromatography/combustion/isotope ratio mass spectrometry and applications in the biodegradation of phenolic brominated flame retardants and their degradation products
Authors: Xiong Jukun , Li Guiying , An Taicheng 
Published: December 2014

RATIONALECompound‐specific stable carbon isotope analysis of phenolic brominated flame retardants (BFRs) and bisphenol A (BPA) has proven informative to discriminate their source and fate apportionment in the environment. However, because these compounds contain highly polar functional groups and exist as complex mixtures in environment matrices, derivatization is a necessary step, which adds additional non‐analyte carbon atoms for analyses and may alter the original stable carbon isotope ratio. It is, therefore, imperative to gain an insight into the relationship between the δ13C values of the BFRs and BPA derivatives and those of underivatized BFRs and BPA.METHODSThe δ13C values of BFRs and BPA N,O‐bis(trimethylsilyl)trifluoroacetamide (BSTFA) derivatives were measured by gas chromatography/combustion/isotope ratio mass spectrometry (GC/C/IRMS). The δ13C values of the BSTFA reagent and the standard underivatized BFRs and BPA were determined using elemental analyzer/isotope ratio mass spectrometry (EA/IRMS). The experimentally obtained δ13C values for BFRs and BPA derivatives were then compared with the theoretically calculated values.RESULTSThe derivatization process introduces no isotopic fractionation for BFRs and BPA (the average difference between the theoretically calculated and experimentally obtained δ13C values was 0.06 ± 0.15‰, within the precision limits of the GC/C/IRMS measurements). Therefore, the δ13C values for the original underivatized BFRs and BPA were computed through a mass balance equation.CONCLUSIONSThis work offers a novel tool to research the biotic or abiotic transformation processes of BFRs and BPA in the environment and will offer a perspective for the identification of the environmental source and fate of these organic compounds. Copyright © 2014 John Wiley & Sons, Ltd.
Urine analysis concerning xenon for doping control purposes
Authors: Thevis Mario , Piper Thomas , Geyer Hans , Schaefer Maximilian S. , Schneemann Julia , Kienbaum Peter , Schänzer Wilhelm 
Published: December 2014

RATIONALEOn September 1st 2014, a modified Prohibited List as established by the World Anti‐Doping Agency (WADA) became effective featuring xenon as a banned substance categorized as hypoxia‐inducible factor (HIF) activator. Consequently, the analysis of xenon from commonly provided doping control specimens such as blood and urine is desirable, and first data on the determination of xenon from urine in the context of human sports drug testing, are presented.METHODSIn accordance to earlier studies utilizing plasma as doping control matrix, urine was enriched to saturation with xenon, sequentially diluted, and the target analyte was detected as supported by the internal standard d6‐cyclohexanone by means of gas chromatography/triple quadrupole mass spectrometry (GC/MS/MS) using headspace injection. Three major xenon isotopes at m/z 128.9, 130.9 and 131.9 were targeted in (pseudo) selected reaction monitoring mode enabling the unambiguous identification of the prohibited substance. Assay characteristics including limit of detection (LOD), intraday/interday precision, and specificity as well as analyte recovery under different storage conditions were determined. Proof‐of‐concept data were generated by applying the established method to urine samples collected from five patients before, during and after (up to 48 h) xenon‐based general anesthesia.RESULTSXenon was traceable in enriched human urine samples down to the detection limit of approximately 0.5 nmol/mL. The intraday and interday imprecision values of the method were found below 25%, and specificity was demonstrated by analyzing 20 different blank urine samples that corroborated the fitness‐for‐purpose of the analytical approach to unequivocally detect xenon at non‐physiological concentrations in human urine. The patients' urine specimens returned 'xenon‐positive' test results up to 40 h post‐anesthesia, indicating the limits of the expected doping control detection window.CONCLUSIONSSince xenon has been considered a prohibited substance according to WADA regulations in September 2014, its analysis from common specimens of routine sports drug testing is desirable. In previous studies, its traceability in whole blood and plasma was shown, and herein a complementary approach utilizing doping control urine samples for the GC/MS/MS analysis of xenon was reported. Copyright © 2014 John Wiley & Sons, Ltd.
Gas‐phase reactions of alcohols with hexamethylene triperoxide diamine (HMTD) under atmospheric pressure chemical ionization conditions
Authors: Colizza Kevin , Porter Matthew , Smith James L. , Oxley Jimmie C. 
Published: December 2014

RATIONALEHexamethylene triperoxide diamine (HMTD) is a sensitive peroxide explosive first synthesized in 1885. HMTD exhibits an unusual gas‐phase phenomenon in the presence of alcohols that has been previously observed, but incorrectly resolved. We are attempting to determine this specific mechanism.METHODSWe used positive ion mode atmospheric pressure chemical ionization (APCI) as the interface to the mass spectrometer. HMTD was infused with various solvents including 18O‐ and 2H‐labeled methanol in order to determine gas‐phase reaction mechanisms.RESULTSBased on these labeled experiments, it was determined that, under APCI conditions, the alcohol oxygen attacks a methylene carbon of HMTD and releases H2O2. This was attempted with nine different alcohols and, in each case, the alcohol is fully incorporated into the molecule with the peroxide release. A mechanism for this reaction has been proposed.CONCLUSIONSThis work appears to have confirmed the gas‐phase reaction mechanism of HMTD with alcohols. As we continue efforts to characterize this unusual molecule, the information may prove useful in determining formation and degradation mechanism(s). In addition, this property of HMTD may find use in other fields of science. Copyright © 2014 John Wiley & Sons, Ltd.
Coordination control of multiple Euler–Lagrange systems for escorting mission
Authors: Zhou Ning , Xia Yuanqing 
Published: November 2014

SummaryIn this paper, a motion control problem of multi‐agent systems for escorting a target is investigated by employing nonsingular fast terminal sliding mode control and adaptive control associated with kinematic control. The proposed control law is robust to model uncertainty and disturbances, and it guarantees all the agents to scatter around the target evenly and escort it with a fixed distance while avoiding obstacles (or collisions) in p‐dimensional case (
is a positive integer). Finite‐time convergence of the position errors and velocity errors is proved rigorously by a Lyapunov‐based approach and finite‐time control techniques. Simulation results in both two‐dimensional and three‐dimensional space are provided to illustrate the effectiveness and high‐precision performance of the control algorithm compared with the traditional adaptive sliding mode control, showing that all the agents can move into suitable positions on the surface of the sphere in the escort mission, and the formation can be reconfigured automatically when the obstacle (or collision) avoidance task is active. Copyright © 2014 John Wiley & Sons, Ltd.
Outage performance of cognitive AF relay networks with direct link and heterogeneous non‐identical constraints
Authors: Gao Zhenguo , Chen Danjie , Zhang Kaichen , Zhang Wei , Li Yibing 
Published: November 2014

AbstractAlthough there have been many interesting works on outage performance analysis of cognitive AF relay networks, we have not found works taking into consideration all the following issues: multiple primary users (PUs), the existence of the direct link from secondary user (SU) source to SU destination, non‐identical, independent Rayleigh‐fading channels, non‐identical interference power limits of PUs, and non‐identical noise powers in signals. Additionally, in outage performance analysis for such networks, the correlation issue, which results from the channel gain of interference links from the SU nodes to the PU, requires elaborate treatments. Hence, analyzing outage performance of non‐identical‐parameter networks (where all channels are fully non‐identical Rayleigh‐fading channels, the PUs have different interference power limits, and received signals have different noise powers) from the beginning is highly complicated. To overcome this problem, we conduct the analysis in two steps. In the first step, expressions of both exact and asymptotic outage probability of identical‐parameter cognitive AF relay networks (where all channels are fully non‐identical Rayleigh‐fading channels but all other parameters are identical) are obtained. Then in the second step, we propose a method for transforming a network with all non‐identical parameters into a new identical‐parameter network, meanwhile guaranteeing that outage performance of the two networks before and after the transformation are the same. Hence, OP of the original non‐identical‐parameter network can be obtained indirectly by using the analysis results obtained in the first step. Our analysis results are validated through numerical simulations. The effects of the number of PUs and the diversity level of channel parameters (which means the range of the channel parameter values) are also inspected by simulations. The results show that taking these factors into consideration is of key importance in obtaining a more accurate estimation of outage performance of such networks. Copyright © 2014 John Wiley & Sons, Ltd.
Correct electrostatic treatment of noncovalent interactions: the importance of polarization
Authors: Clark Timothy , Politzer Peter , Murray Jane S. 
Published: December 2014

The Hellmann–Feynman theorem assures us that the forces felt by the nuclei in a molecule or complex are purely classically electrostatic. Nevertheless, it is often claimed (incorrectly) that electrostatic considerations are not sufficient to explain noncovalent interactions. Such assertions arise largely from neglecting the polarization that is inherently part of the electrostatic interaction, and must be taken into account. Accordingly, we now outline the requirements for a correct electrostatic treatment and discuss the difference between physical observables and quantities that arise from mathematical models. Polarization and donor–acceptor charge transfer are shown to be equivalent for weak interactions. However, polarization is a physical observable while charge transfer, in this context, is mathematical modelling. We also discuss some popular schemes for analyzing noncovalent interactions.WIREs Comput Mol Sci2015, 5:169–177. doi: 10.1002/wcms.1210This article is categorized under:Electronic Structure Theory > Ab Initio Electronic Structure MethodsElectronic Structure Theory > Density Functional TheoryMolecular and Statistical Mechanics > Molecular Interactions
Syntheses, Crystal Structures, and Magnetic Properties of Two Cyanide‐Bridged Bimetallic Magnetic Chains based on Octacyanomolybdate(V) and Lanthanide(III)
Authors: Xu Xiao‐Juan , Zhou Rong‐Rong , Wang Jun , Li Le , Tao Jian‐Qian 
Published: December 2014

AbstractTwo one‐dimensional cyano‐bridged coordination polymers [Ln(tmphen)2(DMF)2Mo(CN)8]∞ [Ln = Eu (1) and Gd (2), tmphen = 3,4,7,8‐ tetramethyl‐1,10‐phenanthroline, DMF = N,N‐dimethylformamide] were synthesized and characterized. The structural determination reveals that complexes 1 and 2 consist of 1D chains, in which [LnIII(tmphen)2(DMF)2]3+ and [MoV(CN)8]3– ions are linked in an alternating fashion. Furthermore, two adjacent 1D chain are linked by π–π interaction between the benzene and pyridine rings to form a two‐dimensional layer. Magnetic investigations show that the antiferromagnetic interaction exists in 2.
Molybdenum L‐Edge XAS Spectra of MoFe Nitrogenase
Authors: Bjornsson Ragnar , Delgado‐Jaime Mario U. , Lima Frederico A. , Sippel Daniel , Schlesier Julia , Weyhermüller Thomas , Einsle Oliver , Neese Frank , DeBeer Serena 
Published: November 2014

AbstractA molybdenum L‐edge X‐ray absorption spectroscopy (XAS) study is presented for native and oxidized MoFe protein of nitrogenase as well as Mo‐Fe model compounds. Recently collected data on MoFe protein (in oxidized and reduced forms) is compared to previously published Mo XAS data on the isolated FeMo cofactor in NMF solution and put in context of the recent Mo K‐edge XAS study, which showed a MoIII assignment for the molybdenum atom in FeMoco. The L3‐edge data are interpreted within a simple ligand‐field model, from which a time‐dependent density functional theory (TDDFT) approach is proposed as a way to provide further insights into the analysis of the molybdenum L3‐edges. The calculated results reproduce well the relative spectral trends that are observed experimentally. Ultimately, these results give further support for the MoIII assignment in protein‐bound FeMoco, as well as isolated FeMoco.
How’s the Weather? Relationship Between Weather and Trauma Admissions at a Level I Trauma Center
Authors: Ho Vanessa P. , Towe Christopher W. , Chan Jeffrey , Barie Philip S. 
Published: December 2014

AbstractBackgroundIt is believed commonly that the rate of trauma admissions is affected by weather, particularly temperature.ObjectiveWe hypothesized that there are significant relationships between temperature and trauma admission rates.Materials and methodsTrauma admission data (moderate‐to‐severe injuries as reported to the NY State Department of Health) from a Level I Trauma Center in Queens, NY were linked with archived hourly weather service data for John F. Kennedy International Airport (4.8 miles distant) from the National Oceanic and Atmospheric Administration for the period January 2000–December 2009. The incidence rate ratio (IRR) of trauma admissions was analyzed by Poisson regression as a function of temperature (per 10 °F as well as other weather parameters); night shift, day of week, and month were added to the model as control variables.ResultsThere were 9,490 reportable admissions over 87,144 h, (average 0.109 admissions/h). By mechanism, 7,157 (75.4 %) were blunt and 1,967 (20.7 %) were penetrating; the remainder were burns, ingestions, or unknown. By Poisson regression analysis, temperature was significantly associated with trauma admissions [IRR 1.19, 95 % confidence interval (CI) 1.16–1.22], and had a stronger association with penetrating trauma (IRR 1.24, 95 % CI 1.17–1.31). Precipitation, overcast sky, and snow depth were negatively associated with trauma admissions overall, but these did not reach significance for the penetrating subgroup.ConclusionsTrauma admission rate is significantly associated with temperature. Taking weather forecasts into account may be important for planning of care provision, staffing, and resource allocation in trauma units and emergency departments.
Distribution and habitat use by pine marten Martes martes in a riparian corridor crossing intensively cultivated lowlands
Authors: Balestrieri Alessandro , Remonti Luigi , Ruiz‐González Aritz , Zenato Michele , Gazzola Andrea , Vergara Maria , Dettori Ettore E. , Saino Nicola , Capelli Enrica , Gómez‐Moliner Benjamín J. , Guidali Franca , Prigioni Claudio 
Published: December 2014

AbstractThe location of pine marten records in northern Italy suggests that main rivers may play the role of natural corridors favouring this species’ colonisation of cultivated lowlands. We assessed the distribution and habitat use by the pine marten on a 35 km long stretch of the River Ticino. Surveys were carried out between October 2011 and June 2012 along linear transects in a 2 × 2 km grid. Using the variation in marking intensity as an indicator of habitat use, habitat selection was assessed at two landscape levels—at transect‐scale by the χ2 test with Bonferroni's confidence intervals for the proportion of use, and at grid‐scale by multiple linear regression. By a polymerase chain reaction–restriction fragment length polymorphism method, 91 faecal samples were assigned to the pine marten. Faeces were mainly located in wooded areas, while fields were avoided. At the grid‐scale of analysis, marking intensity was positively related to the mean area of wooded patches and negatively to their mean perimeter‐area ratio. This suggests that pine marten relative abundance may partially depend on the degree of fragmentation and structure of residual woods. The survey protocol allowed to assess the probability of detection. Occupancy models outlined that heterogeneity in detection probability may arise as a result of variation in marking intensity, i.e. the number of marking individuals. Our results suggest that the availability of both woodland corridors and wood patches are major factors shaping pine marten distribution in intensively cultivated plains and that non‐invasive genetic surveys are a cost‐effective method for future studies at a broader scale.
Status of business model and electronic market research: An interview with Alexander Osterwalder
Authors: Alt Rainer , Zimmermann Hans-Dieter 
Published: December 2014

Abstract
This interview with Alexander Osterwalder provides a compelling view on how research on business models emerged and describes how business model thinking makes a difference in practice. It shows that business models are vital for systematically addressing and (re)designing the key strategic aspects of each business. It is based on Alexander Osterwalder’s doctoral work on business models which was published ten years ago as well as his experiences of making a business model around business models. Besides illustrating the argumentation with many examples the interview also raises the question of rigor and relevance for academic research.
Dietary Patterns, Genes, and Health: Challenges and Obstacles to be Overcome
Authors: Frazier-Wood Alexis C. 
Published: December 2014

AbstractSeveral dietary approaches have been proposed to prevent the onset of chronic diseases. As yet, no single approach has emerged as having the most consistent health benefits. This arises, in part, due to the fact that diet influences health in the context of individual factors with genetic components. Therefore, the effects of diet on health may be dependent on an individual’s genetic background. At this time we lack robust evidence for the effects of interactions between genes and dietary patterns on health. To understand why, I will briefly review the most methodologically strong attempts to identify gene–diet interactions, which will illuminate how the challenges facing all of genetic research apply to the search for gene–diet interactions. Then I will discuss some ways in which these challenges are being addressed that offer hope for the future in which the best diet for an individual is identified based on their genetic variation.