bluuebunny/crossref_metadata_2025_split huggingface dataset:
Brief Report: Identification of a Pathogenic Variant in TREX1 in Early‐Onset Cerebral Systemic Lupus Erythematosus by Whole‐Exome Sequencing
Authors: Ellyard Julia I. , Jerjen Rebekka , Martin Jaime L. , Lee Adrian Y. S. , Field Matthew A. , Jiang Simon H. , Cappello Jean , Naumann Svenja K. , Andrews T. Daniel , Scott Hamish S. , Casarotto Marco G. , Goodnow Christopher C. , Chaitow Jeffrey , Pascual Virginia , Hertzog Paul , Alexander Stephen I. , Cook Matthew C. , Vinuesa Carola G. 
Published: August 2014

ObjectiveSystemic lupus erythematosus (SLE) is a chronic and heterogeneous autoimmune disease. Both twin and sibling studies indicate a strong genetic contribution to lupus, but in the majority of cases the pathogenic variant remains to be identified. The genetic contribution to disease is likely to be greatest in cases with early onset and severe phenotypes. Whole‐exome sequencing now offers the possibility of identifying rare alleles responsible for disease in such cases. This study was undertaken to identify genetic causes of SLE using whole‐exome sequencing.MethodsWe performed whole‐exome sequencing in a 4‐year‐old girl with early‐onset SLE and conducted biochemical analysis of the putative defect.ResultsWhole‐exome sequencing in a 4‐year‐old girl with cerebral lupus identified a rare, homozygous mutation in the three prime repair exonuclease 1 gene (TREX1) that was predicted to be highly deleterious. The TREX1 R97H mutant protein had a 20‐fold reduction in exonuclease activity and was associated with an elevated interferon‐α (IFNα) signature in the patient. The discovery and characterization of a pathogenic TREX1 variant in our proband has therapeutic implications. The patient is now a candidate for neutralizing anti‐IFNα therapy.ConclusionOur study is the first to demonstrate that whole‐exome sequencing can be used to identify rare or novel deleterious variants as genetic causes of SLE and, through a personalized approach, improve therapeutic options.
Acid‐Promoted Chemoselective Introduction of Amide Functionality onto Aromatic Compounds Mediated by an Isocyanate Cation Generated from Carbamate
Authors: Sumita Akinari , Kurouchi Hiroaki , Otani Yuko , Ohwada Tomohiko 
Published: August 2014

AbstractCarbamates have been used as precursors of isocyanates, but heating in the presence of strong acids is required because cleavage of the CO bond in carbamates is energy‐demanding even in acid media. Direct amidation of aromatic compounds by isocyanate cations generated at room temperature from carbamoyl salicylates in trifluoromethanesulfonic acid (TfOH) was examined. Carbamates with ortho‐salicylate as an ether group (carbamoyl salicylates) showed dramatically accelerated OC bond dissociation in TfOH, which resulted in facile generation of the isocyanate cation. These chemoselective intermolecular aromatic amidation reactions proceeded even at room temperature and showed good compatibility with other electrophilic functionalities and high discrimination between N‐monosubstituted carbamate and N,N‐disubstituted carbamate. The reaction rates of secondary and tertiary amide formation were markedly different, and this difference was utilized to achieve successive (tandem) amidation reactions of molecules with an N‐monosubstituted carbamate and an N,N‐disubstituted carbamate with two kinds of aromatic compounds.
Morphometric analysis and lymph node yield in laparoscopic complete mesocolic excision performed by supervised trainees
Authors: West N P , Kennedy R H , Magro T , Luglio G , Sala S , Jenkins J T , Quirke P 
Published: August 2014

Abstract

Background
Complete mesocolic excision with central vascular ligation (CME) produces an optimal colonic cancer specimen. The ability of expert laparoscopic surgeons to produce equivalent specimens is unknown.

Methods
Fresh specimen photographs and clinicopathological data from patients undergoing laparoscopically assisted CME at St Mark's Hospital, Harrow, were submitted for independent pathological review. Surgery was performed by a mixture of consultant specialists and trainees under consultant specialist supervision, between February 2010 and July 2011. The planes of surgery were graded and tissue morphometry was performed using standard methods. The results were compared with published data from open CME and non-CME surgery.

Results
In total, 69 patients were identified, and in 96 per cent resection was performed completely or partially by surgical trainees. Laparoscopic CME produced a similar specimen to open CME. The laparoscopic mesocolic plane resection rate was similar to that for open surgery (90 versus 88 per cent). The distance between the bowel wall and site of vascular division was similar for laparoscopic and open right-sided CME (92 versus 95 mm respectively). The corresponding values for left-sided CME were also similar (103 versus 107 mm). Compared with values from two non-CME series, laparoscopic CME had a higher mesocolic plane rate (90 versus 40 and 48 per cent), and resected more tissue between the bowel wall and the vascular division (right-sided: 92 versus 72 and 76 mm; left-sided: 103 versus 85 and 70 mm). The lymph node yield remained low following laparoscopic CME compared with open CME (median 18 versus 32; P &lt; 0·001) and identical to that of non-CME surgery (median 18).

Conclusion
Laparoscopic CME can be performed to the same standard as open surgery by supervised trainees. However, this did not increase the lymph node yield.
Patient-reported outcomes in long-term survivors of metastatic colorectal cancer needing liver resection
Authors: Rees J R , Blazeby J M , Brookes S T , John T , Welsh F K , Rees M 
Published: August 2014

Abstract

Background
Five-year survival after hepatic resection for colorectal cancer (CRC) liver metastases is good, but data on patient-reported outcomes are lacking. This study describes the long-term impact of liver surgery for CRC metastases on patient-reported outcomes.

Methods
The study used the European Organization for Research and Treatment of Cancer (EORTC) Quality of Life Questionnaire (QLQ) C30 and the disease-specific module, EORTC QLQ-LMC21. For functional scales, mean scores out of 100 with 95 per cent c.i. were calculated; differences of 10 points or more were considered clinically significant. Responses to symptom scales and items were categorized as ‘minimal’ or ‘severe’. Proportions and 95 per cent c.i. for symptoms were calculated.

Results
A total of 241 patients were recruited; nine (3·7 per cent) had unresectable disease and were excluded. Some 68 (42 men) of 80 long-term survivors participated; their mean age was 69·5 years and median follow-up was 8·0 (range 6·9–9·2) years. Values for baseline and 1-year patient-reported outcome data were similar. Scores for functional scales were excellent (emotional function: 92, 95 per cent c.i. 87 to 96; social function: 94, 89 to 99; role function: 94, 90 to 98), reflecting clinically significant improvements from baseline values of 17 (10 to 24), 12 (3 to 21) and 12 (3 to 20) respectively. Severe symptoms were uncommon (affected less than 5 per cent of patients) for most patient-reported outcome scales or items, but persistent severe symptoms were noted for sexual function (2 per cent increase from baseline), peripheral neuropathy (2 per cent increase), constipation (10 per cent increase) and diarrhoea (5 per cent increase).

Conclusion
Long-term survivors of metastatic colorectal cancer who have undergone liver surgery have excellent global quality of life, high levels of function and few symptoms.
Amino acids as chiral auxiliaries in cyanuric chloride‐based chiral derivatizing agents for enantioseparation by liquid chromatography
Authors: Batra Sonika , Bhushan Ravi 
Published: August 2014

ABSTRACTThis review summarizes and critically evaluates the recent research on application of amino acids and amino acid amides as chiral auxiliaries in cyanuric chloride (CC) based chiral derivatizing agents (CDRs), used in the indirect approach for enantiomeric resolution. Methods of synthesis of such CDRs, methods for synthesis of diastereomers of a variety of racemic compounds and parameters of liquid chromatographic separation, along with their prospects and their limitations in indirect enantioresolution, are discussed. Application of the said CDR(s) and the technical approach to be used that are discussed should be beneficial for control of enantiomeric purity in pharmaceutical industry, verification of enantiomeric ratio of commercial formulations and the development of methods for indirect resolution of a variety of chiral compounds. Derivatization methods are particularly required when a chromophore is to be introduced in low UV absorbing molecules, for their detection. Copyright © 2014 John Wiley & Sons, Ltd.
Photobleaching Reveals Heterogeneous Stoichiometry for Equinatoxin II Oligomers
Authors: Baker Matthew A. B. , Rojko Nejc , Cronin Bríd , Anderluh Gregor , Wallace Mark I. 
Published: August 2014

AbstractEquinatoxin II (EqtII), a sea anemone cytolysin, is known to oligomerize to form pores that spontaneously insert into membranes. Crystallographic and cryo‐EM studies of structurally similar cytolysins offer contradictory evidence for pore stoichiometry. Here we used single‐molecule photobleaching of fluorescently labeled EqtII to determine the stoichiometry of EqtII oligomers in supported lipid bilayers. A frequency analysis of photobleaching steps revealed a log‐normal distribution of stoichiometries with a mean of 3.4±2.3 standard deviations. Comparison of our experimental data with simulations of fixed stoichiometries supports our observation of a heterogeneous distribution of EqtII oligomerization. These data are consistent with a model of EqtII stoichiometry where pores are on average tetrameric, but with large variation in the number of subunits in individual pores.
Low‐Resolution Structures of OmpA⋅DDM Protein–Detergent Complexes
Authors: Døvling Kaspersen Jørn , Moestrup Jessen Christian , Stougaard Vad Brian , Skipper Sørensen Esben , Kleiner Andersen Kell , Glasius Marianne , Pinto Oliveira Cristiano Luis , Otzen Daniel Erik , Pedersen Jan Skov 
Published: August 2014

AbstractWe have used SAXS to determine the low‐resolution structure of the outer‐membrane protein OmpA from E. coli solubilized by the surfactant dodecyl maltoside (DDM). We have studied three variants of the transmembrane domain of OmpA—namely monomers, self‐associated dimers, and covalently linked dimers—as well as the monomeric species of the full‐length protein with the periplasmic domain. We can successfully model the structures of the monomeric and covalently linked dimer as one and two natively folded proteins in a DDM micelle, respectively, whereas the noncovalently linked dimer presents a more complicated structure, possibly due to higher‐order species. We have determined the structure of the full‐length protein to be that of a globular periplasmic domain attached through a flexible linker to the transmembrane domain. This approach provides valuable information about how membrane proteins are embedded in amphiphilic environments.
Selective Hydrogenolysis of Xylitol to Ethylene Glycol and Propylene Glycol over Silica Dispersed Copper Catalysts Prepared by a Precipitation–Gel Method
Authors: Liu Hailong , Huang Zhiwei , Xia Chungu , Jia Yuqing , Chen Jing , Liu Haichao 
Published: August 2014

AbstractThe selective hydrogenolysis of biomass‐derived xylitol to ethylene glycol and propylene glycol was performed on Cu–SiO2 catalysts prepared by a precipitation–gel method with different Cu contents and pretreatment temperatures. As a result of the uniform distribution of Cu particles on these catalysts, their activities and combined selectivities to ethylene glycol, propylene glycol, and glycerol increased consistently with the increasing Cu particle size and reached maximum values at around 11 nm in the range of 4.0–38.0 nm. After the reaction conditions and catalyst pretreatment temperatures were optimized, a high combined yield to the target glycols of up to 70.4 % was achieved on 90 %Cu–SiO2 catalyst at ≈100 % xylitol conversion. The 90 %Cu–SiO2 catalyst can be recycled in successive runs without a significant loss of activity and selectivity by recalcination and reduction treatment after each run.
Copper‐mediated 1,4‐Conjugate Addition of Boronic Acids and Indoles to Vinylidenebisphosphonate leading to gem‐Bisphosphonates as Potential Antiresorption Bone Drugs
Authors: Chiminazzo Andrea , Sperni Laura , Damuzzo Martina , Strukul Giorgio , Scarso Alessandro 
Published: August 2014

AbstractA wide range of gem‐bisphosphonate tetraethyl esters as precursors for bisphosphonic acids, which are potent inhibitors of bone resorption, bearing alkyl, aryl, and indole substituents in the β position were prepared through the CuII‐catalyzed 1,4‐conjugate addition of boronic acids and indoles to vinylidenebisphosphonate tetraethyl ester.
Multifunctional Ag‐Decorated Porous TiO2 Nanofibers in Dye‐Sensitized Solar Cells: Efficient Light Harvesting, Light Scattering, and Electrolyte Contact
Authors: Hwang Sun Hye , Song Hee , Lee Jungsup , Jang Jyongsik 
Published: August 2014

AbstractDesigning the photoanode structure in dye‐sensitized solar cells (DSSCs) is vital to realizing enhanced power conversion efficiency (PCE). Herein, novel multifunctional silver‐decorated porous titanium dioxide nanofibers (Ag/pTiO2 NFs) made by simple electrospinning, etching, and chemical reduction processes are introduced. The Ag/pTiO2 NFs with a high surface area of 163 m2 g−1 provided sufficient dye adsorption for light harvesting. Moreover, the approximately 200 nm diameter and rough surface of the Ag/pTiO2 NFs offered enough light scattering, and the enlarged interpores among the NFs in the photoanode also permitted electrolyte circulation. Ag nanoparticles (NPs) were well dispersed on the surface of the TiO2 NFs, which prevented aggregation of the Ag NPs after calcination. Furthermore, a localized surface plasmon resonance effect by the Ag NPs served to increase the light absorption at visible wavelengths. The surface area and amount of Ag NPs was optimized. The PCE of pTiO2 NF‐based DSSCs was 27 % higher (from 6.2 to 7.9 %) than for pure TiO2 NFs, whereas the PCE of Ag/pTiO2 NF‐based DSSCs increased by about 12 % (from 7.9 to 8.8 %). Thus, the PCE of the multifunctional pTiO2 NFs was improved by 42 %, that is, from 6.2 to 8.8 %.
Correlation of static aging effects on automotive catalysts
Authors: Blades Luke , Douglas Roy , McCullough Geoffrey , Woods Andrew 
Published: August 2014

This study identifies and analyzes the effect that aging time and temperature have on the CO light‐off activity of three‐way catalyst samples, aged in a static air (oxidizing) atmosphere. The bench aging time (BAT) equation proposed by the Environmental Protection Agency (EPA), which describes aging as dependent upon time at temperature, was used to calculate a range of oven aging times and temperatures based on a RAT‐A engine bench aging cycle.CO light‐off tests carried out on cores aged between 800 and 900 °C have shown that it is the aging temperature that has the greatest effect on catalyst deterioration for static aging testing, with aging time having little effect. These results were in contradiction to the BAT equation, an industry norm for the aging of catalysts. This demonstrates that static aging, whilst showing how temperature affects aging, gives little or no time effects. The results have shown that static aging is not representative of actual aging on a vehicle.Progressive aging conducted at a temperature of 1000 °C was shown to cause a decrease in catalyst activity as the aging time increased. However, even in these extreme conditions, static aging gave a slower rate of aging with time when compared to engine aging as defined by the BAT equation. Overall, static aging in air has been shown to produce a greater increase in aging due to temperature than predicted by the BAT equation, but less aging due to aging time.
Removal of Lead and Chromium from Synthetic Wastewater Using Vetiveria zizanioides
Authors: Singh Veralika , Thakur Lokendra , Mondal Prasenjit 
Published: August 2014

AbstractThe present study deals with the removal of Pb and Cr from synthetic wastewater using Vetiveria zizanioides in a batch scale floating platform unit. The effect of pH, initial concentration of metals, and time on the removal of Pb and Cr has been studied. Vetiveria zizanioides has shown optimum growth at a pH 6–9 and good removal conditions for 5–20 mg/L Pb and Cr. The described process showed good uptake ability for both Pb and Cr, ranging from 80 to 94% for Pb and about 77–78% for Cr, respectively. The uptake of Cr is found to be faster than the Pb uptake process. The removal of Pb has shown an inductive effect whereas Cr removal is found to be non‐inductive. Most of Cr is found to be stored in the stem (28.3 g/kg) of the plant whereas most of Pb is found to be stored in the roots (57.015 g/kg). The performance of the present process seems to be more efficient compared with other phytoremediation methods.
Novel Hinge‐Binding Motifs for Janus Kinase 3 Inhibitors: A Comprehensive Structure–Activity Relationship Study on Tofacitinib Bioisosteres
Authors: Gehringer Matthias , Forster Michael , Pfaffenrot Ellen , Bauer Silke M. , Laufer Stefan A. 
Published: August 2014

AbstractThe Janus kinases (JAKs) are a family of cytosolic tyrosine kinases crucially involved in cytokine signaling. JAKs have been demonstrated to be valid targets in the treatment of inflammatory and myeloproliferative disorders, and two inhibitors, tofacitinib and ruxolitinib, recently received their marketing authorization. Despite this success, selectivity within the JAK family remains a major issue. Both approved compounds share a common 7H‐pyrrolo[2,3‐d]pyrimidine hinge binding motif, and little is known about modifications tolerated at this heterocyclic core. In the current study, a library of tofacitinib bioisosteres was prepared and tested against JAK3. The compounds possessed the tofacitinib piperidinyl side chain, whereas the hinge binding motif was replaced by a variety of heterocycles mimicking its pharmacophore. In view of the promising expectations obtained from molecular modeling, most of the compounds proved to be poorly active. However, strategies for restoring activity within this series of novel chemotypes were discovered and crucial structure–activity relationships were deduced. The compounds presented may serve as starting point for developing novel JAK inhibitors and as a valuable training set for in silico models.
Photoinduced Energy Transfer from Poly(N‐vinylcarbazole) to Tricarbonylchloro‐(2,2′‐bipyridyl)rhenium(I)
Authors: Portenkirchner Engelbert , Apaydin Dogukan , Aufischer Gottfried , Havlicek Marek , White Matthew , Scharber Markus Clark , Sariciftci Niyazi Serdar 
Published: August 2014

AbstractThis work investigates the photoinduced energy transfer from poly(N‐vinylcarbazole) (PVK), as a donor material, to fac‐(2,2′‐bipyridyl)Re(CO)3Cl, as a catalyst acceptor, for its potential application towards CO2 reduction. Photoluminescence quenching experiments reveal dynamic quenching through resonance energy transfer in solid donor/acceptor mixtures and in solid/liquid systems. The bimolecular reaction rate constant at solution–film interfaces for the elementary reaction of the excited state with the quencher material could be determined as 8.8(±1.4)×1011 L mol−1 s−1 by using Stern–Volmer analysis. This work shows that PVK is an effective and cheap absorber material that can act efficiently as a redox photosensitizer in combination with fac‐(2,2′‐bipyridyl)Re(CO)3Cl as a catalyst acceptor, which might lead to possible applications in photocatalytic CO2 reduction.
Surface‐Enhanced Raman Scattering (SERS) Substrate Based on Large‐Area Well‐Defined Gold Nanoparticle Arrays with High SERS Uniformity and Stability
Authors: Zheng Yan , Wang Wenxin , Fu Qun , Wu Minghong , Shayan Kamran , Wong Kin Mun , Singh Sukhdeep , Schober Andreas , Schaaf Peter , Lei Yong 
Published: August 2014

AbstractA fabrication process that combines an ultrathin alumina membrane (UTAM) surface nanopatterning technique and a physical vapor deposition method has been designed for realizing well‐defined Au nanoparticle arrays for sensitive, uniform, and stable surface‐enhanced Raman scattering (SERS)‐active substrates. High Raman signals are obtained by adjusting the structural parameters of the metallic nanoparticles when rhodamine 6G (R6G) and 4‐mercaptopyridine (4‐MP) are used as the probe molecules. The corresponding estimated enhancement factors (EFs) are 6.5×106 (R6G) and 6.8×105 (4‐MP), respectively. The simulated distributions of the electric field of SERS substrates coincide with the experimental results. Raman measurements at randomly selected spots on a substrate show a standard EF deviation of about 5 %, which indicates a desirable SERS uniformity. An advantageous feature of our SERS substrate is its long‐term stability of enhanced Raman signals. Raman measurements on a substrate after one year show almost the same magnitude of Raman signal (106 for R6G and 105 for 4‐MP) as that of the original measurement. Such substrates with good SERS sensitivity, uniformity, and stability should have high potential for SERS‐related applications.
Carbon Nanofibers Modified with Heteroatoms as Metal‐Free Catalysts for the Oxidative Dehydrogenation of Propane
Authors: Marco Yanila , Roldán Laura , Muñoz Edgar , García‐Bordejé Enrique 
Published: August 2014

AbstractCarbon nanofibres (CNFs) were modified with B and P by an ex situ approach. In addition, CNFs doped with N were prepared in situ using ethylenediamine as the N and C source. After calcination, the doped CNFs were used as catalysts for the oxidative dehydrogenation of propane. For B‐CNFs, the effects of boron loading and calcination temperature on B speciation and catalytic conversion were studied. For the same reaction temperatures and conversions, B‐ and P‐doped CNFs exhibited higher selectivities to propene than pristine CNFs. The N‐CNFs were the most active but the least selective of the catalysts tested here. Our results also show that the type of P precursor affects the selectivity to propene and that CNFs modified using triphenylphosphine as the precursor provided the highest selectivity at isoconversion.
Iron Oxide Encapsulated by Ruthenium Hydroxyapatite as Heterogeneous Catalyst for the Synthesis of 2,5‐Diformylfuran
Authors: Zhang Zehui , Yuan Ziliang , Tang Dingguo , Ren Yongshen , Lv Kangle , Liu Bing 
Published: August 2014

AbstractMagnetic γ‐Fe2O3 nanocrystallites encapsulated by hydroxyapatite (HAP), HAP@γ‐Fe2O3, were prepared followed by cation exchange of Ca2+ on the external HAP surface with Ru3+ to give the γ‐Fe2O3@HAP‐Ru catalyst. The structure of the as‐prepared catalyst was characterized, and its catalytic activity was studied in the aerobic oxidation of 5‐hydroxymethylfurfural (HMF). γ‐Fe2O3@HAP‐Ru showed a high catalytic activity for the aerobic oxidation of HMF into 2,5‐diformylfuran (DFF). A high DFF yield of 89.1 % with an HMF conversion of 100 % was obtained after 4 h at 90 °C. Importantly, the synthesis of DFF from fructose was realized by two consecutive steps. The dehydration of fructose in the presence of a magnetic acid catalyst (Fe3O4@SiO2SO3H) produced HMF in a yield of 90.1 %. Then the Fe3O4@SiO2SO3H catalyst was removed from the reaction solution with a permanent magnet, and HMF in the resulting solution was further oxidized to DFF with a yield of 79.1 % based on fructose. The synthesis of DFF from fructose by two steps avoids the tedious separation of the intermediate HMF, which saves time and energy.