bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II
Authors: Rosenbohm Angela , Süssmuth Sigurd D. , Kassubek Jan , Müller Hans‐Peter , Pontes Christina , Abicht Angela , Bulst Stefanie , Ludolph Albert C. , Pinkhardt Elmar 
Published: July 2013

ABSTRACTIntroduction: Glutaric aciduria type II (GAII) is a rare autosomal recessive disorder with variable clinical course. The disorder is caused by a defect in the mitochondrial electron transfer flavoprotein or the electron transfer flavoprotein dehydrogenase (ETFDH). Methods: We performed clinical characterization, brain and whole body MRI, muscle histopathology, and genetic analysis of the ETFDH gene in a young woman. Results: She presented with rhabdomyolysis and severe quadriparesis. We identified a novel homozygous missense mutation in ETFDH (c.1544G>T, p.Ser515Ile). Body fat MRI revealed a large amount of subcutaneous fat but no increase in visceral fat despite steatosis of liver and muscle. Diffusion tensor imaging (DTI) of cerebral MRI revealed reduced directionality of the white matter tracts. Histopathological findings showed lipid storage myopathy. Conclusions: In this study, we highlight diagnostic clues and body fat MRI in this rare metabolic disorder. Muscle Nerve 49:446–450, 2013
Validation of a yeast functional assay for p53 mutations using clonal sequencing
Authors: Iggo Richard , Rudewicz Justine , Monceau Elodie , Sevenet Nicolas , Bergh Jonas , Sjoblom Tobias , Bonnefoi Hervé 
Published: July 2013

AbstractWe have previously tested biopsies from 1469 breast tumours with a p53 functional assay in the context of a prospective clinical trial (EORTC 10994/BIG 1–00). The goal of the trial was to determine whether p53 status could be used to select patients who would benefit from inclusion of taxanes in anthracycline‐based chemotherapy. The results of the trial were negative. To test whether this was because the functional assay misclassified the tumours, we have reanalysed two groups of biopsies by Sanger sequencing and Roche 454 next generation sequencing (NGS). Comparison of yeast data with pooled cDNA sequencing data in an initial cohort of 69 biopsies showed that conventional sequencing is insensitive when the mutant p53 content is low. A second cohort of 48 biopsies was used to compare directly the yeast assay with Sanger and NGS technology. The mutant sequence was difficult to detect in sequence chromatograms of pooled cDNA, whereas NGS unequivocally identified mutations in every case classified as mutant by the functional assay. The NGS data showed that small deletions, probably caused by PCR splicing, account for most of the unexplained background in the yeast assay. We conclude that mutation detection techniques that test multiple clones, such as the p53 functional assay and NGS, are more reliable than Sanger sequencing of pooled DNA; that the high p53 mutation rate (44%) seen with the yeast assay in the EORTC 10994/BIG 1–00 trial reflects this high sensitivity; and that NGS with Roche 454 technology could be used to identify the p53 mutations in the remaining tumours previously tested in yeast in the EORTC10994/BIG 1–00 trial. Copyright © 2013 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Medications in the first trimester of pregnancy: most common exposures and critical gaps in understanding fetal risk
Authors: Thorpe Phoebe G. , Gilboa Suzanne M. , Hernandez‐Diaz Sonia , Lind Jennifer , Cragan Janet D. , Briggs Gerald , Kweder Sandra , Friedman Jan M. , Mitchell Allen A. , Honein Margaret A. ,   The National Birth Defects Prevention Study
Published: July 2013

ABSTRACTPurposeTo determine which medications are most commonly used by women in the first trimester of pregnancy and identify the critical gaps in information about fetal risk for those medications.MethodsSelf‐reported first‐trimester medication use was assessed among women delivering liveborn infants without birth defects and serving as control mothers in two large case–control studies of major birth defects. The Teratology Information System (TERIS) expert Advisory Board ratings of quality and quantity of data available to assess fetal risk were reviewed to identify information gaps.ResultsResponses from 5381 mothers identified 54 different medication components used in the first trimester by at least 0.5% of pregnant women, including 31 prescription and 23 over‐the‐counter medications. The most commonly used prescription medication components reported were progestins from oral contraceptives, amoxicillin, progesterone, albuterol, promethazine, and estrogenic compounds. The most commonly used over‐the‐counter medication components reported were acetaminophen, ibuprofen, docusate, pseudoephedrine, aspirin, and naproxen. Among the 54 most commonly used medications, only two had “Good to Excellent” data available to assess teratogenic risk in humans, based on the TERIS review.ConclusionsFor most medications commonly used in pregnancy, there are insufficient data available to characterize the fetal risk fully, limiting the opportunity for informed clinical decisions about the best management of acute and chronic disorders during pregnancy. Future research efforts should be directed at these critical knowledge gaps. Copyright © 2013 John Wiley & Sons, Ltd.
EPR study of impurity defects in diamonds grown in carbonate medium
Authors: Komarovskikh Andrey , Nadolinny Vladimir , Palyanov Yuri , Kupriyanov Igor 
Published: July 2013

AbstractThree previously unobserved paramagnetic centers: OX1, OX2, and OX3, have been revealed by the EPR studies of synthetic diamonds grown in Na2CO3–CO2–C system. All of these centers have electron spin S = 1/2 and have not got hyperfine structure. High g‐factor anisotropy of the studied OX1, OX2, and OX3 centers in the absence of transition metal ions in diamond structure may be indicative that there is an oxygen atom in the structure of these defects. IR spectra of the studied diamonds contain intensive line at 1332 cm−1, which confirms high content of positive charge state of substitutional nitrogen (N+) in studied diamonds. It was supposed that all of these three centers have negative charge states. In the paper structures of OX1, OX2, and OX3 centers are discussed according to the obtained experimental data.
Self‐induced growth of GaN nanowires by molecular beam epitaxy: A critical review of the formation mechanisms
Authors: Consonni V. 
Published: July 2013

AbstractGaN nanowires, also called nanocolumns, have emerged over the last decade as promising nanosized building blocks for a wide variety of optoelectronic devices. In contrast to other III–V semiconductors, GaN nanowires have the ability to grow catalyst‐free within the self‐induced approach by plasma‐assisted molecular beam epitaxy, which does not require the use of any foreign materials or patterned substrate. The self‐induced growth has accordingly been considered as a valuable growth mode to form GaN nanowires on a wide number of substrates such as Si, Al2O3, diamond or SiC. The formation mechanisms have extensively been investigated and are specifically reviewed here from the very onset of the nucleation phase through the elongation phase to the coalescence process. A general approach of the self‐induced growth of GaN nanowires is gained. (© 2013 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Simultaneous characterization of methane and carbon dioxide produced by cultured methanogens using gas chromatography/isotope ratio mass spectrometry and gas chromatography/mass spectrometry
Authors: Ai Guomin , Zhu Jinxing , Dong Xiuzhu , Sun Tong 
Published: July 2013

RATIONALEThe stable carbon isotope ratios of methanogen‐produced CH4 and CO2 are useful information for identifying and quantifying methanogenic pathways. Isotope ratio mass spectrometry combined with gas chromatography (GC/IRMS) is a very attractive tool for performing high‐precision compound‐specific isotope analysis. However, no GC/IRMS techniques have yet been available or been validated that give baseline separation of methanogen‐produced CH4 and CO2 from N2/N‐oxides and H2O vapor at ambient temperature and compatibility with analysis by mass spectrometry.METHODSMicrobe‐produced CH4 and CO2 in headspace gases were separated from N2/N‐oxides and H2O vapor in a single run on a GS‐CarbonPLOT column at 35°C and with a maximum operating temperature of 120–140°C. The simultaneous characterization of CH4 and CO2 was then performed by GC/IRMS using an optimized backflush time to eliminate the interference from N2/N‐oxides and H2O vapor, and by GC/MS due to there being no interference from O2 gas in the culture.RESULTSGC/MS and GC/IRMS were used to calculate the ionization efficiency of CO2 as 8.22–8.84 times that of CH4 in GC/MS analysis, and it was deduced that the N‐oxides, which can potentially interfere with δ13C analysis, were probably produced mainly in the source of the isotope ratio mass spectrometer. We also determined the aceticlastic methanogenic pathway.CONCLUSIONSThe established GC/MS and GC/IRMS techniques are suitable for characterizing the gaseous carbon‐containing compounds produced by microbial cultures. Through high‐precision carbon isotope analysis by GC/IRMS combined with low concentrations of 13C‐labelled substrates, the technique has great potential for identifying and quantifying methanogen‐mediated carbon metabolic processes and pathways. Copyright © 2013 John Wiley & Sons, Ltd.
IL-4 receptor blockade abrogates satellite cell: Rhabdomyosarcoma fusion and prevents tumor establishment
Authors: Li Guangheng , Kikuchi Ken , Radka Megan , Abraham Jinu , Rubin Brian P. , Keller Charles 
Published: July 2013

Abstract
Tumor cells of the muscle-related cancer alveolar rhabdomyosarcoma (aRMS) have dysregulated terminal myogenic differentiation that is characterized by continuous proliferation, decreased capacity to express markers of terminal differentiation, and inability of tumor cells to fuse to one another in the manner seen for normal myoblasts. Whether aRMS tumor cells can fuse with normal myogenic progenitors such as skeletal muscle stem cells (satellite cells) or myoblasts is unknown, as is the biological effect of fusion events if the phenomenon occurs. To study this possibility, we isolated primary satellite cells harboring a lacZ Cre-LoxP reporter gene for coculture with murine aRMS primary tumor cells expressing Cre. Results of in vitro and in vivo experiments demonstrated tumor cell—muscle cell progenitor fusion events as well as accelerated rates of tumor establishment and progression when satellite cells and derived muscle progenitors were coinjected with tumor cells in an orthotopic allograft model. Interleukin 4 receptor (IL-4R) blocking antibody treatment reversed fusion events in vitro and blocked tumor initiation and progression in vivo. Taken together, this study supports a potential role of tumor cell—host cell fusion and the strong therapeutic potential of IL-4R blockade to prevent the establishment of RMS tumors at new anatomical sites.
Fault current calculation in distribution systems with inverter‐based distributed generations
Authors: Van Tu Dao , Chaitusaney Surachai , Yokoyama Akihiko 
Published: July 2013

AbstractFault current calculation in distribution systems faces the problem with participation of inverter‐based distributed generation (IBDG). This paper analyzes the fault response of IBDG in order to model it under fault condition. An adaptive algorithm based on an iterative technique is then proposed to calculate the fault current in a system with the installation of IBDG. This algorithm is first validated by the conventional fault calculation technique in case of a system without IBDG. Then, a time‐variant simulation is performed to validate the proposed algorithm for the system with IBDG. © 2013 Institute of Electrical Engineers of Japan. Published by John Wiley & Sons, Inc.
The neural correlates of temporal reward discounting
Authors: Scheres Anouk , de Water Erik , Mies Gabry W. 
Published: July 2013

Temporal reward discounting (TD) refers to the decrease in subjective value of a reward when the delay to that reward increases. In recent years, a growing number of studies on the neural correlates of temporal reward discounting have been conducted. This article focuses on functional magnetic resonance imaging (fMRI) studies on TD in humans. First, we describe the different types of tasks (also from behavioral studies) and the dependent variables. Subsequently, we discuss the evidence for three neurobiological models of TD: the dual‐systems model, the single‐system model and the self‐control model. Further, studies in which nontraditional tasks (e.g., with nonmonetary rewards) were used to study TD are reviewed. Finally, we discuss the neural correlates of individual differences in discounting, and its development across the lifespan. We conclude that the evidence for each of the three neurobiological models of TD is mixed, in that all models receive (partial) support, and several studies provide support for multiple models. Because of large differences between studies in task design and analytical approach, it is difficult to draw a firm conclusion regarding which model provides the best explanation of the neural correlates of temporal discounting. We propose that some components of these models can complement each other, and future studies should test the predictions offered by different models against each other. Several future research directions are suggested, including studying the connectivity between brain regions in relation to discounting, and directly comparing the neural mechanisms involved in discounting of monetary and primary rewards. WIREs Cogn Sci 2013, 4:523–545. doi: 10.1002/wcs.1246This article is categorized under:

Psychology > Brain Function and Dysfunction
Neuroscience > Cognition
A contact problem for electro‐elastic materials
Authors: Hüeber S. , Matei A. , Wohlmuth B. 
Published: July 2013

AbstractWe analyze the frictionless unilateral contact between an electro‐elastic body and a rigid electrically conductive foundation. On the potential contact zone, we use the Signorini condition with non‐zero gap and an electric contact condition with a conductivity depending on the Cauchy vector. We provide a weak variationally consistent formulation and show existence, uniqueness and stability of the solution. Our analysis is based on fixed point techniques for weakly sequentially continuous maps. We conclude by a numerical example that illustrates the applicability of the model.
Engineering of the glycerol decomposition pathway and cofactor regulation in an industrial yeast improves ethanol production
Authors: Zhang Liang , Tang Yan , Guo Zhongpeng , Shi Guiyang 
Published: July 2013

Abstract
Glycerol is a major by-product of industrial ethanol production and its formation consumes up to 4 % of the sugar substrate. This study modified the glycerol decomposition pathway of an industrial strain of Saccharomyces cerevisiae to optimize the consumption of substrate and yield of ethanol. This study is the first to couple glycerol degradation with ethanol formation, to the best of our knowledge. The recombinant strain overexpressing GCY1 and DAK1, encoding glycerol dehydrogenase and dihydroxyacetone kinase, respectively, in glycerol degradation pathway, exhibited a moderate increase in ethanol yield (2.9 %) and decrease in glycerol yield (24.9 %) compared to the wild type with the initial glucose concentration of 15 % under anaerobic conditions. However, when the mhpF gene, encoding acetylating NAD+-dependent acetaldehyde dehydrogenase from Escherichia coli, was co-expressed in the aforementioned recombinant strain, a further increase in ethanol yield by 5.5 % and decrease in glycerol yield by 48 % were observed for the resultant recombinant strain GDMS1 when acetic acid was added into the medium prior to inoculation compared to the wild type. The process outlined in this study which enhances glycerol consumption and cofactor regulation in an industrial yeast is a promising metabolic engineering strategy to increase ethanol production by reducing the formation of glycerol.
Randomized controlled trial of ‘teens and toddlers’: A teenage pregnancy prevention intervention combining youth development and voluntary service in a nursery
Authors: Bonell Chris , Maisey Ruth , Speight Svetlana , Purdon Susan , Keogh Peter , Wollny Ivonne , Sorhaindo Annik , Wellings Kaye 
Published: July 2013

ABSTRACTWe conducted an independent evaluation of the “Teens and Toddlers” intervention. Our randomized trial examined effects on self‐reported last sex without contraception, >1 episode of sex without contraception in previous 3 months, expectation of teenage parenthood and youth development score, plus secondary outcomes among 449 at‐risk girls age 13/14 in England. The intervention involves 18–20 weekly sessions in pre‐school nurseries. Response rates were 95% post‐intervention and 91% one year later. At follow‐up two, there was no evidence of intervention benefits for primary outcomes and a positive impact for our secondary outcome, low self‐esteem. At follow‐up one, there was no evidence of benefits for our primary outcomes but evidence of benefits for our secondary outcomes: low self‐esteem; low sexual health knowledge; and difficulty discussing the contraceptive pill. The intervention should be refined, with a clearer logic model and more emphasis on sex education, and re‐evaluated.
Ruminal dry matter and nitrogen degradation in relation to condensed tannin and protein molecular structures in sainfoin (Onobrychis viciifolia) and lucerne (Medicago sativa)
Authors: AUFRÈRE J. , THEODORIDOU K. , MUELLER-HARVEY I. , YU P. , ANDUEZA D. 
Published: July 2013

SUMMARYSainfoin is a temperate legume that contains condensed tannins (CT), i.e. polyphenols that are able to bind proteins and thus reduce protein degradation in the rumen. A reduction in protein degradation in the rumen can lead to a subsequent increase in amino acid flow to the small intestine. The effects of CT in the rumen and the intestine differ according to the amount and structure of CT and the nature of the protein molecular structure. The objective of the present study was to investigate the degradability in the rumen of three CT-containing sainfoin varieties and CT-free lucerne in relation to CT content and structure (mean degree of polymerization, proportion of prodelphinidins andcis-flavanol units) and protein structure (amide I and II bands, ratio of amide I-to-amide II,α-helix,β-sheet, ratio ofα-helix-to-β-sheet). Protein molecular structures were identified using Fourier transform/infrared-attenuated total reflectance (FT/IR-ATR) spectroscopy. Thein situdegradability of three sainfoin varieties (Ambra, Esparcette and Villahoz) was studied in 2008, during the first growth cycle at two harvest dates (P1 and P2, i.e. 5 May and 2 June, respectively) and at one date (P3) during the second growth cycle (2 June) and these were compared with a tannin-free legume, lucerne (Aubigny). Loss of dry matter (DMDeg) and nitrogen (NDeg) in polyester bags suspended in the rumen was measured using rumen-fistulated cows. The NDeg of lucerne compared with sainfoin was 0·80v.0·77 at P1, 0·78v.0·65 at P2 and 0·79v.0·70 at P3, respectively. NDeg was related to the rapidly disappearing fraction (‘a’) fraction (r=0·76), the rate of degradation (‘c’) (r=0·92), to the content (r=−0·81) and structure of CT. However, the relationship between NDeg and the slowly disappearing fraction (‘b’) was weak. There was a significant effect of date and species×date, for NDeg and ‘a’ fraction. The secondary protein structure varied with harvest date (species×date) and was correlated with the fraction ‘b’. Both tannin and protein structures influenced the NDeg degradation. CT content and structure were correlated to the ‘a’ fraction and to the ‘c’. Features of the protein molecular secondary structure were correlated to the ‘b’ fraction.
X-ray powder diffraction data for peiminine
Authors: Xiao Dan , Zhang Li Li , Wu Xiao Qing , Yan Jin , Luo Wei , Li Hui 
Published: July 2013

X-ray powder diffraction data, unit-cell parameters and space group for peiminine, C27H43NO3, are reported (a = 30.2026 Å,b = 5.8468 Å,c = 14.4344 Å,β = 96.9456°, unit-cell volumeV = 2530.23 Å3,Z = 2 and space groupP21). All measured lines were indexed and are consistent with theP21space group. No detectable impurity was observed.
Genesis of a red-light district: prostitution in Nantes between 1750 and 1810
Authors: PLUSKOTA MARION 
Published: July 2013

ABSTRACT:This article examines the origins of a red-light district in a French provincial city before the implementation of official regulation. It aims at redefining the role of prostitutes, police and society in the development of ‘reserved districts’. Based on the study of judicial archives over a 60-year period, the mapping of the spatial distribution of prostitutes in Nantes reveals the spread of prostitution in most of the city's districts. However, the migrations and movement of prostitutes within the city show a gradual clustering over two districts: this was motivated by economic rationales and was initiated by the prostitutes and, only later in the century, encouraged by the police and community.
Early Stuart Chester as a centre for regional portraiture
Authors: TITTLER ROBERT 
Published: July 2013

ABSTRACT:Scholarship on provincial towns and cities has thus far overlooked their role as centres of painting in the early modern era, leaving the false impression that painting, and art itself, remained the preserve of London. Chester proves a vibrant centre for such activities in the era 1590–1640. This article shows how and why the distinctive characteristics of Chester and its wider hinterland encouraged and shaped its production of portraiture. It also places Chester in the wider context of painting activity in other such provincial centres.
Quantitative Systems Pharmacology Model of NO Metabolome and Methemoglobin Following Long‐Term Infusion of Sodium Nitrite in Humans
Authors: Vega‐Villa K , Pluta R , Lonser R , Woo S 
Published: July 2013

A long‐term sodium nitrite infusion is intended for the treatment of vascular disorders. Phase I data demonstrated a significant nonlinear dose‐exposure‐toxicity relationship within the therapeutic dosage range. This study aims to develop a quantitative systems pharmacology model characterizing nitric oxide (NO) metabolome and methemoglobin after sodium nitrite infusion. Nitrite, nitrate, and methemoglobin concentration–time profiles in plasma and RBC were used for model development. Following intravenous sodium nitrite administration, nitrite undergoes conversion in RBC and tissue. Nitrite sequestered by RBC interacts more extensively with deoxyhemoglobin, which contributes greatly to methemoglobin formation. Methemoglobin is formed less‐than‐proportionally at higher nitrite doses as characterized with facilitated methemoglobin removal. Nitrate‐to‐nitrite reduction occurs in tissue and via entero‐salivary recirculation. The less‐than‐proportional increase in nitrite and nitrate exposure at higher nitrite doses is modeled with a dose‐dependent increase in clearance. The model provides direct insight into NO metabolome disposition and is valuable for nitrite dosing selection in clinical trials.CPT: Pharmacometrics & Systems Pharmacology (2013) 2, e60; doi:10.1038/psp.2013.35; published online 31 July 2013