bluuebunny/crossref_metadata_2025_split huggingface dataset:
Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia
Authors: Matsunami Nori , Shanmugam Hari , Baird Lisa , Stevens Jeff , Byrne Janice L. , Barnhart Douglas C. , Rau Carrie , Feldkamp Marcia L. , Yoder Bradley A. , Leppert Mark F. , Yost H. Joseph , Brunelli Luca 
Published: March 2018

ObjectivesCongenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that causes high newborn morbidity and mortality. CDH is considered to be a multifactorial disease, with strong evidence implicating genetic factors. Although recent studies suggest the biological role of deleterious germline de novo variants, the effect of gene variants specific to the diaphragm remains unclear, and few single genes have been definitively implicated in human disease.MethodsWe performed genome sequencing on 16 individuals with CDH and their unaffected parents, including 10 diaphragmatic samples.ResultsWe did not detect damaging somatic mutations in diaphragms, but identified germline heterozygous de novo functional mutations of 14 genes in nine patients. Although the majority of these genes are not known to be associated with CDH, one patient with CDH and cardiac anomalies harbored a frameshift mutation in NR2F2 (aka COUP‐TFII), generating a premature truncation of the protein. This patient also carried a missense variant predicted to be damaging in XIRP2 (aka Myomaxin), a transcriptional target of MEF2A. Both NR2F2 and MEF2A map to chromosome 15q26, where recurring de novo deletions and unbalanced translocations have been observed in CDH.ConclusionsSomatic variants are not common in CDH. To our knowledge, this is the second case of a germline de novo frameshift mutation in NR2F2 in CDH. Since NR2F2 null mice exhibit a diaphragmatic defect, and XIRP2 is implicated in cardiac development, our data suggest the role of these two variants in the etiology of CDH, and possibly cardiac anomalies.
Verformungsberechnungen von Stahlbetonbauteilen im gerissenen Zustand
Authors: Westphal Henrik , Zahn Franz A. 
Published: March 2018

AbstractIm vorliegenden Aufsatz wird das grundlegende Vorgehen zur Berechnung der Durchbiegung im gerissenen Zustand inklusive Berücksichtigung von Kriechen und Schwinden vorgestellt. Dabei werden aufbauend auf den Vorgaben des EC2 verschiedene Verfahren mit unterschiedlichen Genauigkeitsniveaus für Balken und einachsig gespannte Platten erläutert. Für einfache Systeme können diese Verfahren auch von Hand durchgeführt werden und bieten dabei ein hohes Maß an Kontrolle über den Rechenablauf. Anschließend wird die Ermittlung der Schwindverformungen genauer betrachtet, welche nur mit hohem Rechenaufwand durchgeführt werden kann. Für eine Auswahl von Systemen können Diagramme mit Multiplikationsfaktoren hergeleitet werden, welche die Berechnung stark vereinfachen. Des Weiteren wird auf die Verformungsberechnung im Zustand II für Plattentragwerke eingegangen. Dabei werden sowohl die Berechnung mit FE‐Plattenprogrammen, welche oftmals entsprechende Funktionen anbieten, als auch vereinfachte manuelle Verfahren vorgestellt. Die Grundlagen der Rissbildung lassen sich von Stabtragwerken auf Platten übertragen, allerdings entstehen dabei neue Fragestellungen, wie beispielsweise zum Vorgehen bei der Steifigkeitsabminderung oder zum Einfluss der Schnittgrößenumlagerung infolge Rissbildung. In diesem Bereich besteht daher noch Forschungsbedarf.
Central cholinergic system mediates working memory deficit induced by anesthesia/surgery in adult mice
Authors: Zhang Xiao , Jiang Xuliang , Huang Lili , Tian Weitian , Chen Xuemei , Gu Xiyao , Yu Weifeng , Tian Jie , Su Diansan 
Published: March 2018

AbstractBackgroundPostoperative cognitive dysfunction (POCD) is consistently associated with increased morbidity and mortality, which has become a major concern of patients and caregivers. Although POCD occurs mainly in aged patients, it happens at any age. Previous studies demonstrated that anesthesia/surgery had no effects on reference memory of adult mice. However, whether it impairs working memory remains unclear. Working memory deficit would result in many deficits of executive function. We hypothesized that anesthesia/surgery impaired the working memory of adult mice and the central cholinergic system was involved.MethodTibial fracture internal fixation under the anesthesia of isoflurane was performed in two‐month‐old C57BL/6 mice. Two days later, the spatial reference memory and working memory were measured by a Morris Water Maze (MWM). Donepezil, an inhibitor of acetylcholinesterase (AChE), was administered in another cohort mice for 4 weeks. Then, the working memory was measured by MWM 2 days after anesthesia/surgery. Western blot was used to detect the protein levels of acetylcholine transferase (ChAT), AChE, vesicular acetylcholine transporter (VAChT), and choline transporter (ChT) in the prefrontal cortex (PFC).ResultsWe found that anesthesia/surgery had no effects on the reference memory, but it impaired the working memory in adult mice. Meanwhile, we also found that the protein level of ChAT in PFC decreased significantly compared with that in control group. Donepezil pretreatment prevented working memory impairment and the decrease of the protein levels of ChAT induced by anesthesia/surgery.ConclusionThese results suggest that anesthesia/surgery leads to working memory deficits in adult mice and central cholinergic system impairment is involved.
Strain‐specific differential expression of astrocytes and microglia in the mouse hippocampus
Authors: Kim Jong Whi , Nam Sung Min , Yoo Dae Young , Jung Hyo Young , Hwang In Koo , Seong Je Kyung , Yoon Yeo Sung 
Published: March 2018

AbstractIntroductionGenetic background influences neurotransmitter expression and function of the hippocampus. Genetic background influences the phenotype of the hippocampus, but expression of neuroglia in hippocampus has not been well established dependent on various mouse strains.ObjectivesIn this study, we investigated the effects of genetic background on cell population of astrocytes and microglia in eight widely used inbred strains (C57BL/6J, A/J, BALB/c, C3H/HeJ, FVB, 129/SvJ, DBA/1, and DBA/2) and one outbred strain (ICR).MethodsIn all mouse strains, glial fibrillary acidic protein (GFAP)‐immunoreactive astrocytes and ionized calcium‐binding adaptor molecule 1 (Iba‐1)‐immunoreactive microglia were found in almost all layers of hippocampal CA1‐4 regions and the dentate gyrus.ResultsWe observed significant differences in the number of astrocytes and microglia. In the CA1 and CA3 regions, the number of GFAP‐immunoreactive astrocytes was highest in the C3H/HeJ strain, and lowest in the 129/SvJ and FVB strains. In the polymorphic layer of the dentate gyrus, the number was highest in the DBA/1 strain and lowest in the 129/SvJ strain. Among the nine mouse strains, the number of Iba‐1‐immunoreactive microglia was highest in the CA1 and CA3 regions in the ICR and in the dentate gyrus of the C57BL/6 strain. The CA1 region of the FVB strain and the CA3 region and dentate gyrus of DBA/2 had the lowest number of Iba‐1‐immunoreactive microglia.ConclusionThese results suggest that the numbers of astrocytes and microglia differ depending on the mouse strain and these differences may be related to strain‐dependent function of astrocytes.
A transcriptomics study of differentiated C2C12 myoblasts identified novel functional responses to 17β‐estradiol
Authors: Ding JingJing , Peng ZhaoHong , Wu Di , Miao JiaNing , Liu Bo , Wang LiLi 
Published: March 2018

AbstractPrevious studies of the role of 17β‐estradiol (E2) in myoblast differentiation have produced conflicting data. Therefore, this work aimed to determine the role of E2 on myoblast differentiation and specific myofiber formation. Murine C2C12 myoblasts were cultured in proliferation medium or differentiation medium/10 nM E2. The role of E2 on specific myosin heavy chain (MyHC) or estrogen receptor (ER) expression was examined using real‐time quantitative RT‐PCR (RT‐qPCR). Transcriptome studies of E2 on myoblast differentiation were accomplished by microarray analyses. The expression levels of candidate genes from microarrays and four and a half LIM domains 1 (Fhl1) were detected with RT‐qPCR. E2 in differentiation medium significantly up‐regulated MyHC I expression, but exerted the opposite effects on MyHC II a, MyHC II b, and MyHC II d. Both ER‐α and ER‐β were decreased in differentiated C2C12, and E2 partially restored ER‐β expression. Sixty‐two up‐regulated and 116 down‐regulated genes treated by E2 were identified, and RT‐qPCR validation results showed seven cytoskeletal genes (Myh8, Cenpe, Jak3, Obscn, Ldb3, Mybpc2, Col4a3bp), three genes related to ion channels (Kcnq1, Lrrc26, P2rx3) and Fhl1 transcript 2 were associated with the effects of E2 on myoblast differentiation. These findings suggested E2 helped slow type MyH I fiber formation and impeded fast 2A, 2X/D, and 2B fiber formation.
A case report of hypersomnia in tetrasomy X improved with medical therapy
Authors: Jayaraman Dilip , Carvalho Karen S. , Hasbani Daphne M 
Published: March 2018

Key Clinical MessageTetrasomy X is a rare chromosomal anomaly in which sleep disorders have not been previously reported. We report on one patient with tetrasomy X and hypersomnia successfully treated with psychostimulant therapy. Sleep disorders are rarely reported in chromosomal anomalies. Clinicians should screen patients for sleep disorders and manage them appropriately.
Merging Visible‐Light Photoredox and Lewis Acid Catalysis for the Intramolecular Aza‐Diels–Alder Reaction: Synthesis of Substituted Chromeno[4,3‐b]quinolines and [1,6]Naphthyridines
Authors: Dong Wuheng , Yuan Yao , Gao Xiaoshuang , Hu Bei , Xie Xiaomin , Zhang Zhaoguo 
Published: March 2018

AbstractSubstituted chromeno[4,3‐b]quinolines and [1,6]naphthyridines were achieved by tandem intramolecular aza‐Diels–Alder reaction using a strategy of combination of visible‐light photoredox and Lewis‐acid‐catalysis. This intramolecular aza‐Diels–Alder cycloaddition took place between the in situ generated benzylidene anilines derived from arylamines and salicylaldehyde or 2‐aminoaryl aldehydes bearing a tethered alkene partner, followed by oxidative aromatization to give the target products. The study on the oxidative aromatization step revealed that it is much faster than the cyclization step; both the combination of imine and Lewis acid, and the combination of photocatalyst and Lewis acid under aerobic condition with the irradiation of visible light are efficient to achieve the transformation. This method provided a new access to the synthesis of important heterocycles under mild reaction conditions.
Encrustation Prevention of Zirconium Molybdate Hydrate
Authors: Arai Takahiro , Ito Daiyu , Hirasawa Izumi , Miyazaki Yasunori , Takeuchi Masayuki 
Published: March 2018

AbstractIn nuclear fuel reprocessing, spent nuclear fuel is dissolved by a nitric acid. It is now known that molybdenum and zirconium in fission products react to form zirconium molybdate hydrate (ZMH). ZMH adheres to the inner surface of reprocessing equipment, which affects the extraction efficiency in the subsequent extraction process. Therefore, a new prevention method of ZMH encrustation is required for stable plant operation. In this study, the encrustation amount of ZMH was investigated. Observing the deposition process, it was clarified that ZMH fine crystals were generated and agglomerated, followed by the rapid deposition. The encrustation amount of ZMH decreased as temperature or initial Mo/Zr mole ratio increased, or as the concentration of a nitric acid was reduced.
Electron‐Deficient Bipyrrole Boomerangs: Bright Fluorophores Obtained via Double C−H Bond Activation
Authors: Żyła‐Karwowska Marika , Moshniaha Liliia , Hong Yongseok , Zhylitskaya Halina , Cybińska Joanna , Chmielewski Piotr J. , Lis Tadeusz , Kim Dongho , Stępień Marcin 
Published: March 2018

AbstractPdII‐mediated annulative double C−H activation is shown to efficiently convert 1,n‐dipyrrolylalkanes into extensively π‐conjugated bipyrroles not accessible by conventional oxidative coupling protocols. This approach is applicable to both electron‐rich and electron‐deficient systems, and has been further developed into tandem processes involving further cyclization of substituents or oxygenation of pyrrolic α‐positions. The new bipyrrole intermediates show enhanced fluorescence as well as tunable optical properties controlled by the alignment of chromophore subunits. Photophysical data, including femtosecond transient absorptions, reveal solvent‐induced intramolecular charge transfer in their excited states, dependent on the polarity of the medium.
Left atrial volume in patients with HER2‐positive breast cancer: One step further to predict trastuzumab‐related cardiotoxicity
Authors: Bergamini Corinna , Dolci Giulia , Rossi Andrea , Torelli Flavia , Ghiselli Luca , Trevisani Laura , Vinco Giulia , Truong Stella , La Russa Francesca , Golia Giorgio , Molino Annamaria , Benfari Giovanni , Ribichini Flavio Luciano 
Published: March 2018

BackgroundTrastuzumab (TZ) therapy requires careful monitoring of left ventricular (LV) ejection fraction (LVEF) because it can be potentially cardiotoxic. However, LVEF is an imperfect parameter and there is a need to find other variables to predict cardiac dysfunction early. Left atrium (LA) enlargement has proven to be a powerful predictor of adverse outcomes in several disease entities.HypothesisBaseline LA volume enlargement might predict TZ‐related LV dysfunction.MethodsHER2‐positive breast cancer patients receiving TZ and undergoing transthoracic echocardiography at baseline and at follow‐up every 3 months were retrospectively recruited. One‐hundred sixty‐two patients formed the study population.ResultsBaseline LAVI was dilated in 14 patients (8.6%). Mean follow‐up was 14 ± 4 months. Cardiotoxicity occurred in 24 patients (14.8%). LAVI was an independent predictor of TZ‐induced LV dysfunction in a clinical model, after adjustment for age and hypertension (odds ratio per 5‐mL/m2 LAVI increase: 1.34, 95% confidence interval: 1.03‐1.82, P = 0.03); and in a hemodynamic model, including ventricular sizes and systolic blood pressure level (odds ratio per 5‐mL/m2 LAVI increase: 1.34, 95% confidence interval: 1.01‐1.81, P = 0.04). The predicted probability of developing cardiotoxicity increased progressively, in parallel with LAVI values.ConclusionsBaseline LA dilatation emerges as a condition associated with the development of cardiotoxicity in HER2‐positive breast cancer patients treated with TZ.
Analyzing the requirements to implement a data analysis model for software process improvement
Authors: Mejía Jezreel , Íñiguez Freddy , Muñoz Mirna 
Published: March 2018

SummarySoftware is everywhere. From simple applications to complicated pieces of software, these software products and services facilitate our day‐to‐day activities, but they also need to be high‐quality products in order to guarantee their reliability, security, good performance, and usability. In this context, software development organizations have highlighted that a product's quality largely depends on the quality of the processes followed to build the software. The Software Process Improvement (SPI) initiative is a set of best practices designed to improve software processes through the evaluation of the current organizational practices, competencies, and experiences. However, these SPI initiatives have presented some issues and challenges that complicate their success and preclude software organizations to get improvements. Most of these issues are related to how organizations manage, analyze, and use their own data to improve software processes. The purpose of this paper is to analyze if the three most used software repositories cover the key requirements to implement a data analysis model for implementing SPI initiatives. The results show that the three repositories analyzed as they are do not cover the complete requirements to implement a model highlighting the aspects to be improved.
Research on parallel solution of GRAPES Helmholtz equation
Authors: Li Jingmei , Tian Qiao , Zheng Fangyuan , Wu Weifei , Wang Jiaxiang 
Published: March 2018

SummaryGRAPES is a new generation of numerical weather prediction system developed and used by Chinese researchers. As the accuracy requirement of weather prediction system is increasing, the grid resolution of the global model is greatly increasing; therefore, the computing power becomes one of the important factors restricting the performance of the numerical weather prediction system. In order to solve the problem, the paper introduces the geometric multi‐grid solution to solve the GRAPES Helmholtz equation. The core idea of multi‐grid solution is to eliminate the swing component of the residual by iterative algorithm and eliminate the smooth components of the residuals by using the coarse grid interpolation to correct the fine grid solution. This paper designs a parallel solution for GRAPES multi‐grid, including grid coarsening operation, smooth operation, and the coarsest grid accurate solution operation. Finally, the actual data with the resolution of 1 is tested, achieving the better acceleration effect. At the same time, the analysis and explanations of the test results have some useful conclusions.
SAVM: A practical secure external approach for automated in‐VM management
Authors: Zhan Dongyang , Ye Lin , Fang Binxing , Zhang Hongli 
Published: March 2018

SummaryIn‐VM management is usually needed by cloud service providers for cloud management, which includes monitoring the in‐VM application running state, reconfiguring VM system settings, etc. In‐VM management is also very useful in green cloud computing, because it provides the abilities of in‐VM monitoring, VM reconfiguration, performance measurement, etc. Leveraging a shell or an in‐VM agent to manage VMs is faced with generality and security challenges. In this paper, we propose a secure automated in‐VM management approach, ie, SAVM, which likes a hypervisor‐based shell managing the VMs in an out‐of‐box way. To bridge the semantic gap, we reuse the target VM's system calls to process the semantic information automatically. More importantly, we introduce a secure instruction fetch approach to enhance the system security. As a result, SAVM does not rely on the target VM's kernel integrity. In addition, we also present a dummy process selection and a system call injection method to further enhance the system security and transparency. After the implementation, we evaluate the prototype. The experimental results show that SAVM can achieve most of the in‐VM management operations. Furthermore, SAVM can work correctly under the target VM attacked by several popular rootkits.
Revealing Factors Influencing the Fluorine‐Centered Non‐Covalent Interactions in Some Fluorine‐Substituted Molecular Complexes: Insights from First‐Principles Studies
Authors: Varadwaj Arpita , Varadwaj Pradeep R. , Marques Helder M. , Yamashita Koichi 
Published: March 2018

AbstractWe examine the equilibrium structure and properties of six fully or partially fluorinated hydrocarbons and several of their binary complexes using computational methods. In the monomers, the electrostatic surface of the fluorine is predicted to be either entirely negative or weakly positive. However, its lateral sites are always negative. This enables the fluorine to display an anisotropic distribution of charge density on its electrostatic surface. While this is the electrostatic surface scenario of the fluorine atom, its negative sites in some of these monomers are shown to have the potential to engage in attractive engagements with the negative site(s) on the same atom in another molecule of the same type, or a molecule of a different type, to form bimolecular complexes. This is revealed by analyzing the results of current state‐of‐the‐art computational approaches such as DFT, together with those obtained from the quantum theory of atoms in molecules, molecular electrostatic surface potential and symmetry adapted perturbation theories. We demonstrate that the intermolecular interaction energy arising in part from the universal London dispersion, which has been underappreciated for decades, is an essential factor in explaining the attraction between the negative sites, although energy arising from polarization strengthens the extent of the intermolecular interactions in these complexes.
Isomerism, Diradical Signature, and Raman Spectroscopy: Underlying Connections in Diamino Oligophenyl Dications
Authors: Medina Rivero Samara , Mayorga Burrezo Paula , Sandoval‐Salinas María Eugenia , Li Tao , Ramírez Francisco J. , Casanova David , Wang Xinping , Casado Juan 
Published: March 2018

AbstractA diradical dication of a 4,4′‐di(bis(1,4‐methylphenyl)amino)‐p‐terphenyl oligomer has been characterized in solid‐state by Raman spectroscopy and thermo‐spectroscopy together with quantum chemical calculations. The diradical character has been evaluated on the basis of the Raman spectra and as a function of temperature. A complete understanding of the nature of the changes in solid state has been provided based on a pseudo‐Jahn‐Teller effect, which is feasible owing to the fine balance between quinoidal/aromatic extension among consecutive rings and steric crowding. This study contributes to the further comprehension of the molecular and electronic structures of these particular diradical molecules with strong implications on the understanding of the nature of chemical bonds in the limits of high electronic correlation or π‐conjugation.
CF3 Substitution of [Cu(P^P)(bpy)][PF6] Complexes: Effects on Photophysical Properties and Light‐Emitting Electrochemical Cell Performance
Authors: Keller Sarah , Brunner Fabian , Junquera‐Hernández José M. , Pertegás Antonio , La‐Placa Maria‐Grazia , Prescimone Alessandro , Constable Edwin C. , Bolink Henk J. , Ortí Enrique , Housecroft Catherine E. 
Published: March 2018

AbstractInvited for this month's cover are the research groups of Professors Catherine Housecroft and Edwin Constable from the University of Basel, Switzerland and Professor Enrique Ortí and Dr. Henk Bolink from the University of Valencia, Spain. These groups have a longstanding collaboration to investigate molecular electronic devices, in particular light‐emitting electrochemical cells (LECs) and organic light‐emitting diodes (OLEDs). The featured article highlights the development of LECs with copper(I)‐based emitters for devices consisting of Earth‐abundant materials. Read the full text of the article at 10.1002/cplu.201700501.
Numerical simulation study towards plasma detachment in the end cell of GAMMA 10/PDX by a coupled fluid‐neutral code
Authors: Islam M.S. , Nakashima Y. , Tatsumi R. , Hatayama A. , Islam M.M. , Iijima T. 
Published: March 2018

AbstractThis paper studies the transport of hydrogen neutral particles towards the upstream region in the end cell of GAMMA 10/PDX by developing a neutral transport code. As a first step, a series of initial test calculations have been performed by injecting hydrogen molecules from the target plate with fixed plasma background. It has been shown that neutral particles concentrate near the target plate and reduce towards the upstream region. After these initial test calculations, the dependence of hydrogen gas puffing on the plasma parameters has also been investigated. Hydrogen gas puffing leads to a strong reduction in the ion temperature near the target plate. For the strong gas puffing case, Ti on the target plate is significantly reduced. Hydrogen gas puffing strongly enhances the momentum losses near the target plate via the charge–exchange reaction.