bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gene–gene interaction between MSX1 and TP63 in Asian case‐parent trios with nonsyndromic cleft lip with or without cleft palate
Authors: Liu Dongjing , Schwender Holger , Wang Mengying , Wang Hong , Wang Ping , Zhu Hongping , Zhou Zhibo , Li Jing , Wu Tao , Beaty Terri H. 
Published: January 2018

BackgroundSmall ubiquitin‐like modification, also known as sumoylation, is a crucial post‐translational regulatory mechanisms involved in development of the lip and palate. Recent studies reported two sumoylation target genes, MSX1 and TP63, to have achieved genome‐wide level significance in tests of association with nonsyndromic clefts. Here, we performed a candidate gene analysis considering gene–gene and gene–environment interaction for SUMO1, MSX1, and TP63 to further explore the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P).MethodsA total of 130 single‐nucleotide polymorphisms (SNPs) in or near SUMO1, MSX1, and TP63 was analyzed among 1,038 Asian NSCL/P trios ascertained through an international consortium. Conditional logistic regression models were used to explore gene–gene (G × G) and gene–environment (G × E) interaction involving maternal environmental tobacco smoke and multivitamin supplementation. Bonferroni correction was used for G × E analysis and permutation tests were used for G × G analysis.ResultsWhile transmission disequilibrium tests and gene–environment interaction analysis showed no significant results, we did find signals of gene–gene interaction between SNPs near MSX1 and TP63. Three pairwise interactions yielded significant p values in permutation tests (rs884690 and rs9290890 with p = 9.34 × 10−5 and empirical p = 1.00 × 10−4, rs1022136 and rs4687098 with p = 2.41 × 10−4 and empirical p = 2.95 × 10−4, rs6819546 and rs9681004 with p = 5.15 × 10−4 and empirical p = 3.02 × 10−4).ConclusionGene–gene interaction between MSX1 and TP63 may influence the risk of NSCL/P in Asian populations. Our study provided additional understanding of the genetic etiology of NSCL/P and underlined the importance of considering gene–gene interaction in the etiology of this common craniofacial malformation.
Synthesis and luminescence properties of cubic‐shaped Ca1‐xTiO3:Eu3+ particles
Authors: Zhou Shang , Wang Hua , Zhong Li , Li Guanghai 
Published: January 2018

AbstractIn this article Ca1‐xTiO3:xEu3+ single crystalline particles with a cubic morphology and average size of 248 to 815 nm were synthesized by a solvothermal method. The structural and optical properties of the Ca1‐xTiO3:xEu3+ cubes were investigated, the formation mechanism of the cubes were analyzed and discussed, and the influence of Eu doping content and cubic size on the photoluminescence were examined. The differences in the photoluminescence between Ca1‐xTiO3:xEu3+ cubic crystals and nanoparticles was analyzed. It was found that an addition of a small amount of water can substantially reduce the size of the cubes. An obvious red emission band centered at 615 nm was observed under the excitation at 395 nm for the cubes. Our results demonstrate CaTiO3 cubes are good host materials for designing red phosphors.
Genotype and risk of tumour rupture in gastrointestinal stromal tumour
Authors: Boye K , Berner J-M , Hompland I , Bruland Ø S , Stoldt S , Sundby Hall K , Bjerkehagen B , Hølmebakk T 
Published: January 2018

Abstract

Background
Tumour rupture is a strong predictor of poor outcome in gastrointestinal stromal tumours (GISTs) of the stomach and small intestine. The objective was to determine whether tumour genotype was associated with risk of rupture.

Methods
Rupture was classified according to the definition proposed by the Oslo Sarcoma Group. Since January 2000, data were registered retrospectively for all patients at Oslo University Hospital undergoing surgery for localized GIST of the stomach or small intestine. Tumour genotype was analysed by Sanger sequencing.

Results
Two hundred and nine patients with mutation data available were identified. Tumour rupture occurred in 37 patients. Among the 155 patients with KIT exon 11 mutations, an increased risk of rupture was observed with a deletion or insertion–deletion (25 of 86, 29 per cent) compared with substitutions (5 of 50, 10 per cent) or duplications/insertions (2 of 19, 11 per cent) (P = 0·014). Notably, rupture occurred in 17 of 46 tumours (37 per cent) with deletions involving codons 557 and 558 (del557/558) versus 15 of 109 (13·8 per cent) with other exon 11 mutations (P = 0·002). This association was confined to gastric tumours: 12 of 34 (35 per cent) with del557/558 ruptured versus six of 77 (8 per cent) with other exon 11 mutations (P = 0·001). In multivariable logistic regression analysis, del557/558 and tumour size were associated with an increased likelihood of tumour rupture, but mitotic count was not.

Conclusion
Gastric GISTs with KIT exon 11 deletions involving codons 557 and 558 are at increased risk of tumour rupture. This high-risk feature can be identified in the diagnostic evaluation and should be included in the assessment when neoadjuvant imatinib treatment is considered.
Using Delphi methodology in the development of a new patient‐reported outcome measure for stroke survivors with visual impairment
Authors: Hepworth Lauren R. , Rowe Fiona J. 
Published: January 2018

AbstractIntroductionThe aim of this study was to ascertain what items stroke survivors and stroke care professionals think are important when assessing quality of life for stroke survivors with visual impairment for inclusion in the new patient‐reported outcome measure.MethodsA reactive Delphi process was used in a three‐round electronic‐based survey. The items presented consisted of 62 items originally sourced from a systematic review of existing vision‐related quality of life instruments and stroke survivor interviews, reduced and refined following a ranking exercise and pilot with stroke survivors with visual impairment. Stakeholders (stroke survivors/clinicians) were invited to take part in the process. A consensus definition of ≥70% was decided a priori. Participants were asked to rank importance on a 9‐point scale and categorize the items by relevance to types of visual impairment following stroke or not relevant. Analysis of consensus, stability, and agreement was conducted.ResultsIn total, 113 participants registered for the Delphi survey of which 47 (41.6%) completed all three rounds. Response rates to the three rounds were 78/113 (69.0%), 61/76 (81.3%), and 49/64 (76.6%), respectively. The participants included orthoptists (45.4%), occupational therapists (44.3%), and stroke survivors (10.3%). Consensus was reached on 56.5% of items in the three‐round process, all for inclusion. A consensus was reached for 83.8% in the categorization of items. The majority (82.6%) of consensus were for relevant to ‘all visual impairment following stroke’; two items were deemed ‘not relevant’.ConclusionThe lack of item reduction achieved by this Delphi process highlights the need for additional methods of item reduction in the development of a new PROM for visual impairment following stroke. These results will be considered alongside Rasch analysis to achieve further item reduction. However, the Delphi survey remains important as it provides clinical and patient insight into each item rather than purely relying on the psychometric data.
Investigation of the free heavy chain homodimers of a monoclonal antibody
Authors: Chung Hyo (Helen) , Buck Lynette , Daris Kristi , Welborn Brent , Luo Quanzhou , Wypych Jette 
Published: January 2018

Monoclonal antibodies (mAbs) are composed of two heavy chain (HC) and two light chain (LC) polypeptides. The proper folding and assembly of HC and LC is critical for antibody production. Current dogma indicates that the free HCs are retained in the endoplasmic reticulum (ER) unless assembled with LCs into antibodies, while the LCs on the other hand can be secreted as free monomer or dimer molecules. In this study, high levels of extracellular HC homodimers (7%‐45%) were observed in the cell culture media during cell line development for mAb1. Excellent correlation (R2 > 0.9) between the level of free HC homodimers and the percentage of high molecular weight species indicates that the free HC homodimers might be causative of unwanted aggregation. Due to the different surface charge of HC homodimer and fully assembled antibodies, the unwanted extracellular HC homodimers were successfully removed by downstream processing, through a cation exchange chromatography step. Reduced capillary electrophoresis‐sodium dodecyl sulfate (rCE‐SDS) analysis of the cell culture media from different MTX‐amplified pools indicated that insufficient expression of LC is one potential root cause for the high level of free HC homodimers. The level of free HC homodimers decreased significantly (3%‐25%) after retransfecting the MTX amplified pools with additional LC gene. © 2018 American Institute of Chemical Engineers Biotechnol. Prog., 34:738–745, 2018
Measuring Biogas Composition with a Compact Microelectromechanical System‐Based Spectrometer
Authors: Eccleston Robin , Bongards Michael 
Published: January 2018

AbstractTo operate a demand‐driven anaerobic digester, improvements to monitoring of process parameters are necessary. Therefore, a mid‐infrared spectroscopic gas sensor utilizing a microelectromechanical system‐based Fabry‐Pérot interferometer was tested for its suitability to measure the biogas concentration online. The spectral data is analyzed using principle component regression to make predictions of methane and carbon dioxide. Testing was performed in a laboratory, at a 1000‐L pilot‐scale digester, and at a 1.2‐MW landfill site. Scans took under eight minutes during testing and it is expected that this can be reduced further to give a shorter delay from the online measurements.
Synthesis, Crystal Analysis, and Optoelectronic Properties of Diazole‐Functionalized Acenes and Azaacenes
Authors: Pan Huahang , Song Tingting , Yin Xiaomeng , Jin Pengcheng , Xiao Jinchong 
Published: January 2018

AbstractDoping heteroatoms into the skeletons of parent acenes can provide more opportunities to construct novel thermally and photostable organic π‐conjugated semiconductors. Herein, a family of diazole‐decorated acenes (APyS and APySe) and azaacenes (PyP, PyTh, PyPy, PyPh, and PyAP) have been successfully synthesized through the classical reactions. Single‐crystal X‐ray analyses showed that these as‐formed diazole‐modified derivatives adopted a twisted topology configuration, whereas the azaacenes display reclining‐chair architectures, besides a twisted structure. All these compounds displayed yellow or red light in solution. Moreover, their electrochemical behaviors were also examined. We also found that the azaacenes exhibited a positive spectroscopic response to acid.
The Pentagonal‐Pyramidal Hexamethylbenzene Dication: Many Shades of Coordination Chemistry at Carbon
Authors: Klein Johannes E. M. N. , Havenith Remco W. A. , Knizia Gerald 
Published: January 2018

AbstractA recent report on the crystal structure of the pentagonal‐pyramidal hexamethylbenzene dication C6(CH3)62+ by Malischewski and Seppelt [Angew. Chem. Int. Ed. 2017, 56, 368] confirmed the structural proposal made in the first report of this compound in 1973 by Hogeveen and Kwant [Tetrahedron Lett. 1973, 14, 1665]. The widespread attention that this compound quickly gained led us to reinvestigate its electronic structure. On the basis of intrinsic bond orbital analysis, effective oxidation state analysis, ring current analysis, and comparison with well‐established coordination complexes, it is demonstrated that the central carbon atom behaves like a transition metal. The central (apical) carbon atom, although best described as a highly Lewis‐acidic carbon atom coordinated with an anionic cyclopentadienyl ligand, is also capable of acting as an electron‐pair donor to a formal CH3+ group. The different roles of coordination chemistry are discussed.
Brønsted Base‐Catalyzed Umpolung Intramolecular Cyclization of Alkynyl Imines
Authors: Kondoh Azusa , Terada Masahiro 
Published: January 2018

AbstractA novel “umpolung” intramolecular cyclization of alkynyl imines, in which the electrophilic imine sp2‐carbon formally serves as a nucleophilic site, was developed under Brønsted base catalysis. The reaction involves the unprecedented catalytic generation of α‐aminoester enolates from α‐iminoesters via the 1,2‐addition of the anion of a secondary phosphite to an imine moiety followed by the [1,2]‐rearrangement of a dialkoxyphosphoryl moiety from carbon to nitrogen, which is a formal umpolung process, and the intramolecular addition to an alkyne. This is a rare example of a [1,2]‐rearrangement of a dialkoxyphosphoryl moiety from carbon to nitrogen to generate an α‐amino carbanion and the first catalytic carbon–carbon bond forming reaction utilizing the resulting carbanion as a nucleophile.
How and Why Does Helium Permeate Nonporous Arsenolite Under High Pressure?
Authors: Guńka Piotr A. , Hapka Michał , Hanfland Michael , Dranka Maciej , Chałasiński Grzegorz , Zachara Janusz 
Published: January 2018

AbstractInvestigations into the helium permeation of arsenolite, the cubic, molecular arsenic(III) oxide polymorph As4O6, were carried out to understand how and why arsenolite helium clathrate As4O6⋅2 He is formed. High‐pressure synchrotron X‐ray diffraction experiments on arsenolite single crystals revealed that the permeation of helium into nonporous arsenolite depends on the time for which the crystal is subjected to high pressure and on the crystal history. The single crystal was totally transformed into As4O6⋅2 He within 45 h under 5 GPa. After release of the pressure, arsenolite was recovered and a repeated increase in pressure up to 3 GPa led to practically instant As4O6⋅2 He formation. However, when a pristine arsenolite single crystal was quickly subjected to a pressure of 13 GPa, no helium permeation was observed at all. No neon permeation was observed in analogous experiments. Quantum mechanical computations indicate that there are no specific attractive interactions between He atoms and As4O6 molecules at the distances observed in the As4O6⋅2 He crystal structure. Detailed analysis of As4O6 molecular structure changes has shown that the introduction of He into the arsenolite crystal lattice significantly reduces molecular deformations by decreasing the anisotropy of stress exerted on the As4O6 molecules. This effect and the pΔV term, rather than any specific As⋅⋅⋅He binding, are the driving forces for the formation As4O6⋅2 He.
Design and modeling of survivable network planning for software‐defined data center networks in smart city
Authors: Peng Yuhuai , Wang Xiaojie , Shen Dawei , Yan Wei , Fu Yanhua , Deng Qingxu 
Published: January 2018

SummarySmart city can integrate cloud computing, big data, Internet of Things, edge computing, and other modern information technologies, which focuses on integration, sharing, utilization, and service of information resources, and emphasizes the cooperation and coordination of urban management, to achieve deep integration of industrialization and informatization. Data center network planning based on big data is involved in rational deployment and interconnection of network infrastructures, which can improve the network survivability, energy‐efficiency, flexibility, etc. Therefore, a survivable network planning model based on software‐defined networking is presented in this paper. The elastic network planning problem is formulated as a mixed‐integer optimization whose objective is to minimize the number of unprotected nodes. Then, 3 effective schemes including K‐means clustering algorithm based on simulated annealing, greedy routing algorithm, and Lagrangian relaxation algorithm are proposed for feasible solutions. Numerical results on practical network topology reveals that (1) K‐means clustering algorithm based on simulated annealing can make effective classification of different scale topologies; (2) compared with the traditional random deployment method, the greedy routing algorithm and Lagrangian relaxation algorithm can generate the controller deployment strategy more reasonably, and thus improve network survivability and deployment cost‐benefit.
Stability, integrity, and recovery rate of cellular nucleic acids preserved in a new liquid‐based cytology medium
Authors: Zhao Guodong , Liu Zhaocheng , Tian Yaping , Zhu Minsheng , Wang Shouli , Wang Hui , Gao Shen , Ma Yong , Zheng Minxue 
Published: January 2018

BackgroundLiquid‐based cytology (LBC) has replaced the conventional Papanicolaou test in cervical cancer screening. The cervical swab specimens collected in LBC media can also be used for additional analyses including high‐risk HPV (HR‐HPV) test, DNA methylation analysis, and HPV E6/E7 mRNA test.MethodsThe stability, integrity, and recovery rate of cellular DNA and RNA after storage at different conditions were evaluated by a quantitative real‐time PCR (qPCR) based HR‐HPV test, reverse transcription qPCR (RT‐qPCR), and agarose gel electrophoresis. Cervical swab specimens collected in a newly developed LBC medium, VersaMedium, and ThinPrep PreservCyt medium were processed on Hologic ThinPrep 5000 instrument.ResultsCervical exfoliative cells fixed by VersaMedium exhibited good cellular morphology with intact membranes and delineated chromatin structures. Cellular DNA preserved in VersaMedium exhibited high level of stability at both room temperature and 4°C, and remained mostly intact at 4°C for up to 28 days. Cellular RNA preserved in VersaMedium maintained higher level of stability and integrity at 4°C than at room temperature. VersaMedium also showed no apparent adverse effect on the recovery rate of nucleic acids.ConclusionIn addition to maintaining cellular morphology, when stored at 4°C, VersaMedium preserves cellular nucleic acids and PreservCyt medium without noticeable adverse effects on the recovery rate during purification. Therefore, VersaMedium is an appropriate LBC medium for the collection and preservation of cervical swab specimens. And VersaMedium preserved cellular nucleic acids are of such high quality that they are suitable for HR‐HPV qPCR test and RT‐qPCR analyses.
Risk factors for disordered weight control behaviors among Korean adolescents: Multilevel analysis of the Korea Youth Risk Behavior Survey
Authors: Kim Yongjoo , Austin S. Bryn , Subramanian S.V. , Thomas Jennifer J. , Eddy Kamryn T. , Franko Debra L. , Rodgers Rachel F. , Kawachi Ichiro 
Published: January 2018

AbstractObjectiveTo investigate the prevalence and risk factors for disordered weight control behaviors (DWCB) in South Korean adolescents at multiple levels, including individual, family, school, and geographic area.MethodWe drew participants from the 11th Korea Youth Risk Behavior Web‐based Survey, conducted in 2015, with 65,529 adolescents (31,687 girls, 33,842 boys) aged 12–18 years. DWCB was defined as engaging in any of the following behaviors for weight control over the past month: fasting, one‐food diet (eating only one food over an extended period of time for weight control), vomiting, and taking laxatives/diuretics/unprescribed diet pills. Sex‐stratified four‐level multilevel logistic models examined potential predictors of DWCB, including age, body‐mass index, puberty, perceived household economic status, parental education, living structure, school type and sex‐composition, percentage of students participating in school nutrition programs, and urbanicity.ResultsOverall, 6.2% of Korean adolescents (8.9% of girls, 3.7% of boys) exhibited any DWCB. We found significant between‐school variation among girls and boys and between‐classroom variation among girls. Older age, overweight/obesity, pubertal maturity, high household economic status (vs. mid‐range economic status), and vocational schooling (vs. general) were positively associated with DWCB among girls and boys. Low household economic status (vs. mid‐range economic status), higher parental education, and coeducational schooling (vs. single‐sex) were positively associated with DWCB among girls only.DiscussionThe findings suggest that DWCB are prevalent among Korean adolescents across age, sex, and socioeconomic status. Social contextual factors including school and familial environmental factors, as well as individual characteristics, should be considered when developing effective prevention strategies.
Variation and drivers of airflow patterns associated with olfactory concealment and habitat selection
Authors: Fogarty Dillon T. , Elmore R. Dwayne , Fuhlendorf Samuel D. , Loss Scott R. 
Published: January 2018

AbstractMany terrestrial predators rely on olfaction to detect prey; therefore, prey should select habitat to reduce detectability of their odor cues. One way prey can potentially conceal their odor is by selecting locations with high turbulence and/or updrafts, conditions that disperse odor plumes and make odor sources difficult to locate. However, it is unclear how these conditions vary among vegetation cover types and which vegetative features drive them. We assessed variation and drivers of variables hypothesized to influence olfactory concealment (turbulence intensity and airflow slope) and experimentally evaluated whether these variables indeed influence predator detection of simulated prey. Specifically, we compared vegetation patch‐scale values of turbulence intensity and airflow slope among grassland, shrubland, and forest and assessed relationships among these airflow variables and local‐scale vegetative features within each vegetation type. Additionally, we experimentally investigated the importance of turbulence intensity, airflow slope, and visual concealment for predicting predator detection of scented quail eggs. In all vegetation types, we documented high variability in airflow conditions. At the patch scale, turbulence intensity was greater in shrubland and grassland than in forest, and updrafts were most common in shrubland whereas downdrafts were most common in grassland. Grassland was the only vegetation type with strong relationships among turbulence intensity and local vegetation features; both visual concealment and vegetation height were positively related to turbulence intensity. Additionally, persistence of scented quail eggs in grassland was best predicted by turbulence intensity; egg persistence increased with turbulence intensity. Our characterization of differences in olfactory variables among vegetation types provides an important step towards building a clearer understanding of olfactory landscapes. Further, our observation of both patch‐ and local‐scale variation in olfactory variables suggests that prey can potentially select for olfactory concealment at multiple scales. We hypothesize that olfactory concealment provided by high levels of turbulence intensity is an important component of cover in grassland, and that in grassland/shrubland landscapes, prey selection of shrubland patches reduces odor detectability. Our finding of a positive relationship between turbulence intensity and visual concealment also suggests that olfactory concealment may be a previously underappreciated confounding factor in studies of habitat selection.