bluuebunny/crossref_metadata_2025_split huggingface dataset:
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction
Authors: Andrabi Sara , Bekheirnia Mir Reza , Robbins‐Furman Patricia , Lewis Richard Alan , Prior Thomas W. , Potocki Lorraine 
Published: April 2011

AbstractJuvenile polyposis syndrome (JPS) is caused by heterozygous mutations in either SMAD4 or BMPR1A. Individuals with JPS due to mutations in SMAD4 are at greater risk to manifest signs of hereditary hemorrhagic telangiectasia (HHT). HHT is caused by either mutations in SMAD4 or other genes that modulate transforming growth factor‐beta (TGFβ) signaling. Additional genes in the TGFβ network include FBN1, TGFBR1, and TGFBR2, mutations of which cause either Marfan syndrome (MFS) or Loeys–Dietz syndrome (LDS), respectively. As SMAD4, FBN1, and TGFBR1/2 map to different regions of the genome, disorders associated with mutations in these genes are not expected to co‐segregate in a family. We report an individual whose family history was positive for aortopathy, mitral valve dysfunction, and JPS. Mutation analysis of SMAD4 implicates this gene for these phenotypes in this family. Although SMAD4 is among several genes in the TGFβ network, and although prior single case reports have described large vessel aneurysms in HHT, this is the first description of aortic and mitral disease presenting with JPS. This observation suggests that, in addition to HHT, individuals with SMAD4 mutations may be at risk for aortic dilation and mitral valve dysfunction. We emphasize the importance of comprehensive review of the medical history prior to molecular testing, especially in an asymptomatic patient. © 2011 Wiley‐Liss, Inc.
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews
Authors: Edvardson S. , Jalas C. , Shaag A. , Zenvirt S. , Landau C. , Lerer I. , Elpeleg O. 
Published: April 2011

AbstractAutosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL) in Ashkenazi Jews, is mainly caused by mutations in the GJB2 and GJB6 genes. Here we describe a novel homozygous mutation of the LOXHD1 gene resulting in a premature stop codon (R1572X) in nine patients of Ashkenazi Jewish origin who had severe‐profound congenital non‐progressive ARNSHL and benefited from cochlear implants. Upon screening for the mutation among 719 anonymous Ashkenazi‐Jews we detected four carriers, indicating a carrier rate of 1:180 Ashkenazi Jews. This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community. © 2011 Wiley‐Liss, Inc.
Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?
Authors: Shkalim Vered , Ben‐Sira Liat , Inbar Dov , Kaadan Walid , Basel‐Vanagaite Lina , Straussberg Rachel 
Published: April 2011

AbstractClubfoot is a common birth deformity, and agenesis of the corpus callosum is one of the most prevalent brain malformations. We describe three sibs of Arab origin, who were born with clubfeet, agenesis of corpus callosum, and minor anomalies. Two of them were born with microcephaly. This phenotype may represent a novel autosomal recessive genetic condition. © 2011 Wiley‐Liss, Inc.
Cu(II) bromide catalyzed oxidation of aldehydes and alcohols
Authors: Das Rima , Chakraborty Debashis 
Published: April 2011

AbstractA variety of aromatic, aliphatic and conjugated aldehydes and alcohols were transformed to the corresponding carboxylic acids and ketones with a quantitative conversion in high yields with 70% t‐BuOOH solution in water in the presence of catalytic (5 mol%) amounts of CuBr2 under room temperature conditions. The conversion of 4‐methoxybenzaldehyde to 4‐methoxybenzoic acid is extremely facile in MeCN at ambient temperature in the presence of 5 mol% CuBr2 and 2 equiv. 70% t‐BuOOH (water) as the oxidant. Oxidation with t‐BuOOH (water) alone in MeCN was found to be negligible. The scope of our catalytic system is applicable for a wide range of aromatic, conjugated and aliphatic substrates. These aldehydes were converted to the corresponding carboxylic acids in good isolated yields in reasonable times. It is pertinent to mention here that mild halogenic oxidants like hypochlorites, chlorites and NBS are not suitable for substrates with electron‐rich aromatic rings, olefinic bonds and secondary hydroxyl groups. Substitutions at different positions on the phenyl ring do not hinder the reaction, although the reaction time is affected. Oxidation of α,β unsaturated derivatives resulted in the formation of the expected acid in good yield. In addition, the transformation of secondary alcohols to ketones is extremely facile. No recemization was observed for menthone. This method possesses a wide range of capabilities since it can be used with other functional groups which may not tolerate oxidative conditions, involves fairly simple method for work‐up, exhibits chemoselectivity and proceeds under ambient conditions. The resulting products are obtained in good yields within reasonable time. Copyright © 2011 John Wiley & Sons, Ltd.
The surface structure and chemical characters of activated carbon fibers modified by plasma
Authors: Zhou Jia‐Yong , Wang Zu‐Wu , Zuo Rong , Zhou Ye , Cao Xiao‐Man , Cheng Kang 
Published: April 2011

ABSTRACTViscose‐based activated carbon fibers (VACFs) were treated by a direct‐current (DC) discharge plasma at different conditions. The surface functional groups of VACFs were modified to improve the adsorption and catalysis capacity for SO2 and NOx. The surface properties of the untreated and treated VACFs which were modified in different feed gases (air, O2, N2 and NH3) were performed by scanning electron microscopy, BET, X‐ray photoelectron spectroscopy (XPS) and Fourier transform infrared attenuated total reflection spectroscopy (FTIR‐ATR). The results show that after being treated with plasma, more particles appeared on the external surface of the VACFs and the surface became rougher, the average pore size decreased but the pore volume and the surface area decreased first and then increased. XPS revealed that DC discharge plasma can remarkably change the distribution of functional groups on the surface of VACFs. FTIR‐ATR also indicated that more nitrogen atoms were introduced to the VACFs surface when the feed gas contained nitrogen atoms and N and O atoms were introduced to the surface of VACFs at the same time when the feed gas was air, but it did not happen in the feed gas of N2, or O2, or NH3. Discharge voltage and treatment time were important factors and for our experiment in the feed gas of nitrogen, the optimum modification conditions were 8 kV and 5 min, respectively. © 2011 Curtin University of Technology and John Wiley & Sons, Ltd.
Fuzzy automated targeting for trade‐off analysis in batch water networks
Authors: Nun Sophanna , Foo Dominic Chwan Yee , Tan Raymond R. , Razon Luis F. , Egashira Ryuichi 
Published: April 2011

AbstractAutomated targeting technique has recently been developed for various resource conservation network problems in continuous and batch processes. The technique is built on the targeting concept of insight‐based pinch analysis technique, and implemented on mathematical optimization framework. For batch water networks, the water sinks and sources are located within the respective time intervals before flow targeting is carried out. In this work, automated targeting is further extended by including fuzzy constraints to analyze the trade‐off between water conservation potential and the requirement for storage and/or regeneration systems. Case study from literature is used to demonstrate the newly developed fuzzy automated targeting technique. Copyright © 2011 Curtin University of Technology and John Wiley & Sons, Ltd.
The time evolution analysis of methane reburn process at high temperature
Authors: Wang Enlu , Xu Xuchang , Zhang Mingchuan 
Published: April 2011

ABSTRACTThe time evolution of the methane reburn process at high temperature was investigated by the simulation method. The simulated results show that the time evolutions of each component are different with the stoichiometric ratio (SR) of the reburn zone and the reaction time. In the simulation conditions, CH4, C2H2, and H appear as SR is from 0.66 to 0.96; CH3 appears as SR is from 0.66 to 0.76; HCN, NH3, and HNCO appear as SR is from 0.66 to 0.86; OH appears as SR is from 0.82 to 0.96. In the case with SR of 0.76, C2H2 and CH3 only appear in the initial 0.2 s, NH3 and HNCO appear in the whole 2.0 s; In the case with SR of 0.82, C2H2 also appears in the initial 0.2 s, NH3 and HNCO only appear in initial 0.5 s, CH3 does not appear in the whole reaction time of 2.0 s. The reaction between CH3 and NO mainly occurs in the strong reducing atmosphere, and contributes significantly to remove NO to HCN, NH3, and HNCO. The interactions of NO with H and OH radicals mainly occur in the weak reducing atmosphere, and contribute to remove a small part of NO to N2. Through comparing the time evolutions of total fixed nitrogen (TFN) with different SR, it is suggested that the optimum SR for reducing TFN in the methane reburn process is about 0.82. © 2011 Curtin University of Technology and John Wiley & Sons, Ltd.
Effect of microwave irradiation on chemical profile of extracts during the extraction of organic compounds from Astragalus slices
Authors: Yang Junhong , Di Qianqian , Zhao Jun 
Published: April 2011

ABSTRACTThe objective of this paper was to study the relationship between the chemical profile of extracts and the extraction behavior of plant porous materials using Astragalus water extraction as an example. The results will assist in the determination of optimal processing conditions and maintaining or improving the quality of natural products. Conventional reflux extraction (RE) and microwave‐assisted extraction (MAE) were considered and compared. The molecular cutoff of ultrafiltration membranes was used to analyze the molecular weight distribution of extracts. Result shows that the yield of extracts by MAE (10 min) is significantly higher than that by RE (120 min), especially for those extracts with relative small molecular weight. Conventional hot air drying and microwave drying were also compared for further discussion on the effect of microwave irradiation on extracts. Atomic force micrograph (AFM) shows that the size of extracts (as particle height) are approximately 3.850–4.364, 6–10, and 100–300 nm for MAE‐hot air drying, RE‐microwave drying, and RE‐hot air drying, respectively. Therefore, the results presented confirm that microwave irradiation can be used to prepare samples with uniform small size. This provides a better understanding of mass transfer behavior inside matrix during the extraction of plant materials. © 2011 Curtin University of Technology and John Wiley & Sons, Ltd.
A simulation‐based approach to stochastic dynamic programming
Authors: Polson Nicholas G. , Sorensen Morten 
Published: April 2011

AbstractIn this paper we develop a simulation‐based approach to stochastic dynamic programming. To solve the Bellman equation we construct Monte Carlo estimates of Q‐values. Our method is scalable to high dimensions and works in both continuous and discrete state and decision spaces while avoiding discretization errors that plague traditional methods. We provide a geometric convergence rate. We illustrate our methodology with a dynamic stochastic investment problem. Copyright © 2011 John Wiley & Sons, Ltd.
Expression, purification, and improved antigenic specificity of a truncated recombinant bp26 protein of Brucella melitensis M5‐90: a potential antigen for differential serodiagnosis of brucellosis in sheep and goats
Authors: Wen‐xing Liu , Sen Hu , Zu‐jian Qiao , Wei‐ye Chen , Lin‐tao Liu , Fang‐kun Wang , Rong‐hong Hua , ZHi‐gao Bu , Xiang‐rui Li 
Published: April 2011

AbstractAntibodies produced in animals vaccinated using live attenuated vaccines against Brucella spp. are indistinguishable using current conventional serological tests from those produced in infected animals. One potential approach is to develop marker vaccines in which specific genes have been deleted from parental vaccine strains that show good immunogenicity and vaccine efficacy. Corresponding methods of detection for antibodies raised by the marker vaccine should also be developed. A specific fragment of the bp26 gene of Brucella melitensis M5–90 was cloned into vector pQE32 to construct the recombinant plasmid (pQE32‐rΔbp26). It was used to transform Escherichia coli M15 (pREP4) host cells, which expressed the rΔbp26 protein. Subsequently, the recombinant protein was purified by immobilized metal affinity chromatography and size‐exclusion chromatography. The results of sodium dodecyl sulfate‐polyacrylamide gel electrophoresis showed that the purified rΔbp26 protein was represented by only one band, with a molecular weight of 14 kDa, and it showed good antigenic specificity on western blot and enzyme‐linked immunosorbent assay (ELISA). The purified rΔbp26 protein was intended to be used as an antigen to develop a novel ELISA to differentiate animals vaccinated with bp26 mutants of Brucella spp. from those infected naturally and those vaccinated with the parental vaccine strains.
Purification of plasmid DNA from Escherichia coli ferments using anion‐exchange membrane and hydrophobic chromatography
Authors: Guerrero‐Germán Patricia , Montesinos‐Cisneros Rosa Ma. , Prazeres D. Miguel F. , Tejeda‐Mansir Armando 
Published: April 2011

AbstractA novel downstream bioprocess was developed to obtain purified plasmid DNA (pDNA) from Escherichia coli ferments. The intermediate recovery and purification of the pDNA in cell lysate was conducted using hollow‐fiber tangential filtration and frontal anion‐exchange membrane and elution hydrophobic chromatographies. The purity of the solutions of pDNA obtained during each process stage was investigated. The results show that the pDNA solution purity increased 30‐fold and more than 99% of RNA in the lysate was removed during the process operations. The combination of membrane operations and hydrophobic interaction chromatography resulted in an efficient way to recover pDNA from cell lysates. A better understanding of membrane‐based technology for the purification of pDNA from clarified E. coli lysate was developed in this research.
Plant‐made pharmaceuticals: Leading products and production platforms
Authors: Paul Matthew , Ma Julian K‐C. 
Published: April 2011

AbstractThe number of approaches to recombinant protein production in plants is greater than ever before. Development of these new and improved technologies as production platforms for plant‐made pharmaceuticals has and will continue to create new commercial opportunities in the pharmaceutical sector. However, it is inevitable that no single system will be optimal for the production of all recombinant proteins of interest in plants due to both the physical characteristics and the envisaged therapeutic application of each product. Here, we review a range of promising product/platform pairs emphasizing synergies during production and in clinical trials.
In vivo study of a model tissue‐engineered small‐diameter vascular bypass graft
Authors: Baguneid Mo , de Mel Achala , Yildirimer Lara , Fuller Barry J. , Hamilton George , Seifalian Alexander M. 
Published: April 2011

AbstractConventionally used vascular grafts such as polyester (Dacron) or expanded polytetrafluoroethylene perform inadequately as small‐diameter vascular bypass grafts (SDBGs). SDBGs, which can maintain long‐term patency and those that could potentially evolve with the somatic growth, are highly desirable in vascular surgery and thus research into tissue‐engineered blood vessels (TEBVs) is of keen interest. A TEBV was developed by seeding endothelial cells onto a collagen matrix that was cross‐linked and contracted by smooth muscle cells (SMCs). A polyester graft served as a scaffold. Recovery studies (12 TEBVs and seven controls) were carried out to assess in vivo endothelialization and long‐term patency of TEBVs. Hemodynamic observations indicated para‐anastomotic turbulences and high shear stress at anastomosis. Recovery studies demonstrated confluent endothelialization, thrombus‐free surfaces, and patent TEBVs in all cases. Graft incorporation and neovascularization of the scaffold occurred in both hybrid and control grafts. However, thickened neointima formation occurred in TEBV grafts, which was most likely caused by the rigidity of polyester scaffold. Significant perigraft inflammatory changes could be observed in both TEBVs and control grafts at 1, 4, and 8 weeks. In conclusion, the TEBVs demonstrated satisfactory performance as an infra–renal–aortic graft in a porcine model. The TEBV serves as a promising model and facilitates the development of a TEBV in a clinical setting, potentially with human stem cells and with more biocompatible, biodegradable scaffolds that are mechanically more compliant with natural vessels.
Simulation terroristischer Anschläge in Massenverkehrsmitteln
Authors: Larcher Martin , Gebbeken Nobert , Solomos George , Casadei Folco 
Published: April 2011

AbstractAufgrund terroristischer Anschläge sind Baustrukturen auch Explosionen ausgesetzt. In der vorliegenden Untersuchung werden numerische Simulationen verwendet, um die Auswirkungen von Detonationen in schienengebundenen Massenverkehrsmitteln zu untersuchen. Es werden verschiedene Parameter für die Detonation innerhalb eines Waggons variiert. An einem langen Zug ohne Unterteilungen werden die Auswirkungen einer Explosion im Tunnel im Vergleich zu der im Frei‐Feld gezeigt. Ein Risikomodell hilft, die Auswirkungen auf Passagiere zu erkennen. Anhand dieses Modells lassen sich die Einflussfaktoren auf das Risiko für die Passagiere herausarbeiten. Es zeigt sich, dass insbesondere Einbauten wie Türen oder Windfänge helfen, die Detonationswelle zu reduzieren.Simulation of terrorist attacks in mass transport systems.Recent terrorist attacks have shown that civil structures are also exposed to detonations. Numerical simulations are used here to investigate the influence of explosions in mass transport systems. Several attack scenarios are examined. Parameters of detonations inside a wagon are varied. A long train without any intersections or compartments is also considered and the effects of detonations inside a tunnel or in free‐field are investigated. A risk model depending on the blast parameters calculated, helps to determine the influence of the detonation onto passengers. It can be shown that internal structures like compartments or windscreens can significantly reduce the blast wave consequences.
Besondere Aspekte bei der Verwendung von Gitterträger‐Elementdecken zur Herstellung punktgestützter Flachdecken
Authors: Held Markus , Welsch Torsten 
Published: April 2011

AbstractSeit einiger Zeit werden Gitterträger‐Elementdecken verstärkt auch bei der Herstellung punktgestützter Flachdecken eingesetzt. Dabei wird zuweilen übersehen, dass es gegenüber liniengelagerten Decken einige Besonderheiten zu beachten gilt. Nachfolgend wird auf einige dieser kritischen Punkte hingewiesen.Particular aspects concerning the use of ribbed slab floors to the construction of flat slabs. Ribbed slab floors are also used for the construction of flat slabs. Sometimes it is ignored, that some special aspects have to be considered in comparison to line supported slabs. In the following pages some critical points are emphasized.
Umsetzung einer Meerwasserkühlung beim Kraftwerk Eemshaven (NL) — eine bautechnische Herausforderung im Bereich Tief‐ und Wasserbau
Authors: Ulke Bernd , Börg Bernd 
Published: April 2011

AbstractDie RWE Eemshaven Holding B.V. baut am Standort Eemshaven (NL) ein Steinkohlekraftwerk mit Meerwasserkühlung. Um mit der Hauptkühlwasserleitung den Deich zu unterqueren, ist das sog. Einleitbauwerk bzw. Kühlwasserauslassbauwerk erforderlich. Über die bis Dezember 2009 erfolgten Arbeiten bis zur Betonage der ersten Unterwasserbetonsohle (landseitige Baugrube) wurde bereits in [1] berichtet.
Prediction models for complications in trauma patients
Authors: de Jongh M A C , Bosma E , Verhofstad M H J , Leenen L P H 
Published: April 2011

Abstract

Background
Because the death rate among the total trauma population is low, other performance indicators in addition to the classical dependent variable mortality are required to assess the overall quality of trauma care. The aim of this study was to develop and validate a prediction model for the occurrence of complications that can be used to adjust a measure of quality of trauma care for case mix.

Methods
Complications recorded in a trauma registry between 1997 and 2008 were analysed. Formulas for different types of complication (institution- or diagnosis-related) derived from logistic regression models were used to calculate the probability of absence of complications (PAC). Discriminative power was tested by calculating the area under the receiver operating characteristic curve (AUC) in test and validation samples. Calibration was tested using Hosmer and Lemeshow methodology.

Results
Some 5944 surgical trauma admissions were included in the analysis. A significant association between both institution- and diagnosis-related complications and Injury Severity Score was found. Diagnosis-related complications were also associated with Glasgow Coma Score and age. The AUCs of the PACs for institution- and diagnosis-related complications were 0·64 and 0·75 respectively in the test sample, and 0·66 and 0·76 in the validation sample. The AUCs increased when the outcomes of the models were divided into subcategories of complications. Hosmer and Lemeshow tests were not significant for all models, except that for institutional complications.

Conclusion
To predict complications, a distinction should be made between institution- and diagnosis-related complications. The development of more detailed diagnosis-related prediction models is preferable because of better performance. The formulas predicting the PAC can be used to compare expected and observed complications.
Smoking and the risk of diverticular disease in women
Authors: Hjern F , Wolk A , Håkansson N 
Published: April 2011

AbstractBackgroundThe relationship between smoking and the risk of diverticular disease is unclear. An observational cohort study was undertaken to investigate the association between smoking and diverticular disease.MethodsWomen in the Swedish Mammography Cohort born between 1914 and 1948 were followed from 1997 to 2008. Information on smoking and other lifestyle factors was collected through questionnaires. Patients with symptomatic diverticular disease were identified from Swedish national registers. Relative risks (RRs) of symptomatic diverticular disease (resulting in hospital admission or death) according to smoking status were estimated using Cox proportional hazards models.ResultsOf 35 809 women included in the study, 561 (1·6 per cent) had symptomatic diverticular disease. In multivariable analysis, current smokers had an increased risk of symptomatic diverticular disease compared with non-smokers after adjustment for age, intake of dietary fibre, diabetes, hypertension, use of acetylsalicylic acid, non-steroidal anti-inflammatory drugs or steroid medication, alcohol consumption, body mass index, physical activity and level of education (RR 1·23, 95 per cent confidence interval 0·99 to 1·52). Past smokers also had an increased risk (RR 1·26, 1·02 to 1·56). Smokers had a higher risk of developing a diverticular perforation/abscess than non-smokers (RR 1·89, 1·15 to 3·10).ConclusionSmoking is associated with symptomatic diverticular disease.