bluuebunny/crossref_metadata_2025_split huggingface dataset:
Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family
Authors: Thompson Wayne , Carey Patrick Z. , Donald Tyhiesia , Nelson Beverly , Bhoj Elizabeth J. , Li Dong , Hakonarson Hakon , Ramirez Maricela , Elsea Sarah H. , Smith Janice L. , Carey John C. , Sobering Andrew K. 
Published: June 2020

AbstractBackgroundCornelia de Lange syndrome (CdLS) comprises a recognizable pattern of multiple congenital anomalies caused by variants of the DNA cohesion complex. Affected individuals may display a wide range of phenotypic severity, even within the same family.MethodsExome sequencing and confirmatory Sanger sequencing showed the same previously described p.Arg629Ter NIPBL variant in two half‐brothers affected with CdLS. Clinical evaluations were obtained in a pro bono genetics clinic.ResultsOne brother had relatively mild proportionate limb shortening; the other had complete bilateral hypogenesis of the upper arm with absence of lower arm structures, terminal transverse defects, and no digit remnants. His complex lower limb presentation included long bone deficiency and a deviated left foot. The mother had intellectual disability and microcephaly but lacked facial features diagnostic of the CdLS.ConclusionWe describe a collaboration between a pediatrics team from a resource‐limited nation and USA‐based medical geneticists. Reports describing individuals of West Indian ancestry are rarely found in the medical literature. Here, we present a family of Afro‐Caribbean ancestry with CdLS presenting with phenotypic variability, including unusual lower limb abnormalities. The observation of this novel family adds to our knowledge of the phenotypic and molecular aspects of CdLS.
Enantiomeric NMR signal separation mechanism and prediction of separation behavior for a praseodymium (III) complex with (S,S)‐ethylenediamine‐N,N‐disuccinate
Authors: Aizawa Sen‐ichi , Okano Masaru 
Published: June 2020

AbstractBecause choice of chiral nuclear magnetic resonance (NMR) shift reagents and concentration conditions have been made empirically by trials and errors for chiral NMR analyses, the prediction of NMR signal separation behavior is an urgent issue. In this study, the separation of enantiomeric and enantiotopic 1H and 13C NMR signals for α‐amino acids and tartaric acid was performed by using the praseodymium(III) complex with (S,S)‐ethylenediamine‐N,N′‐disuccinate ((S,S)‐EDDS). All the present D‐amino acids exhibited larger downfield shift of their α‐protons and α‐carbons compared with those for the corresponding L‐amino acids in common. This regularity is applicable to absolute configurational assignment and determination of optical purity of amino acids. The chemical shifts of β‐protons of d‐ and l‐alanine fully bound with the Pr(III) ((S,S)‐EDDS) complex (δbs) and the adduct formation constants of both enantiomers (Ks) were obtained by dependences of the observed downfield shifts of the β‐protons on the total concentrations of the respective enantiomers in the presence of a constant concentration of the Pr(III) complex. The difference in the K values was found to be predominant determining factor for the enantiomeric signal separation. The chemical shifts of both enantiomers (δs) and the enantiomeric signal separations (Δδs) under given conditions could be calculated from the δb and K values. Furthermore, prediction of the signal separation behavior was enabled by using the calculated δ values and the signal broadening obtained by dependences of the half‐height widths of the observed signals on the bound/free substrate concentration ratios for the respective enantiomers.
Many‐scale finite strain computational homogenization via Concentric Interpolation
Authors: Kunc Oliver , Fritzen Felix 
Published: June 2020

SummaryA method for efficient computational homogenization of hyperelastic materials under finite strains is proposed. Multiple spatial scales are homogenized in a recursive procedure: starting on the smallest scale, few high fidelity FE computations are performed. The resulting fields of deformation gradient fluctuations are processed by a snapshot POD resulting in a reduced basis (RB) model. By means of the computationally efficient RB model, a large set of samples of the homogenized material response is created. This data set serves as the support for the Concentric Interpolation (CI) scheme, interpolating the effective stress and stiffness. Then, the same procedure is invoked on the next larger scale with this CI surrogating the homogenized material law. A three‐scale homogenization process is completed within few hours on a standard workstation. The resulting model is evaluated within minutes on a laptop computer in order to generate fourth‐scale results. Open source code is provided.
Optimal control of nonlinear aeroelastic system with non‐semi‐simple eigenvalues at Hopf bifurcation points
Authors: Wang Licai , Chen Yudong , Pei Chunyan , Liu Lina , Chen Suhuan 
Published: June 2020

AbstractThis study discusses an efficient method of the Hopf bifurcation control for nonlinear aeroelastic system. The nonlinear aeroelastic system whose linear part has multiple non‐semi‐simple eigenvalues at critical point gives rise to Hopf bifurcations. The method of the multiple scales and the well‐known linear quadratic regulator method are used to deal with the optimal control of the nonlinear system at Hopf bifurcation points. The modal optimal control equation and modal Riccati equation of the nonlinear system are developed to simplify the computations. The conventional Potter's algorithm is extended to solve modal Riccati equation for the modal Riccati matrix of the Hopf bifurcation control. The first‐order approximation solutions are developed, which include the gain vectors and inputs. By the way of optimal control, the admissible control input and trajectory of the linear part of the nonlinear aeroelastic system are obtained to minimize the performance measure. Then, we set the appropriate first‐order gain vector to adjust the convergence speed of this nonlinear system.
Reachable set estimation for uncertain nonlinear systems with time delay
Authors: Zhang Zhihao , Wang Xinsheng , Xie Wenbo , Shen Yi 
Published: June 2020

SummaryThis article studies reachable set estimation for parameter uncertain systems with time delay. A new reachable set estimation method is proposed for nonlinear discrete‐time systems with parameter uncertainty and unknown but bounded disturbance. By analyzing Lyapunov‐Krasovskii functional, reachable set estimation is formulated to an optimization problem in terms of linear matrix inequalities. The proposed method not only can handle nonzero initial condition but also provide real‐time reachable set estimation. The effectiveness and superiority of the proposed method are illustrated by numerical simulations.
Manufacture of luminescent shape‐memory polymer composites using rare earth organic complex and commercial carboxylated nitrile rubber
Authors: Zhang Zhen , Hu Xin , Liu Wenting , Epaarachchi Jayantha , Tan Bin , Yi Zilin , Fang Liang , Lu Chunhua , Xu Zhongzi 
Published: June 2020

AbstractCommercial rubber is hardly considered as raw materials to manufacture multifunctional shape‐memory polymers (SMPs) because it is difficult to either tune its glass transition temperature or introduce crystalline domains. Here, we report the manufacture of luminescent SMP composites based on commercial carboxylated nitrile rubber and rare earth organic complex (REOC) with Sm3+ ions. The dispersion of REOC and the properties of the composites were investigated in detail. The increase in the REOC loading did not deteriorate the tensile strength and elongation at break of the composites, when the stresses at low strains were highly improved. The strong filler‐chain interaction increased the glass transition temperature of the rubber composites. Besides, luminescent functions were introduced into such rubber composites, while luminescent intensities and lifetime can also be affected by REOC loadings. Finally, the prepared rubber composites presented a light‐induced shape‐memory effect under the irradiation of near‐infrared light due to the photothermal effect of the REOC.
Improved interfacial adhesion with the help of functional polyhedral oligomeric silsesquioxanes in silicone rubber/rayon fiber composites: Physical, mechanical, thermal, and morphological properties
Authors: Kodal Mehmet , Şirin Hümeyra , Karaağaç Bağdagül , Özkoç Güralp 
Published: June 2020

AbstractThe aim of this article is to improve the interfacial adhesion between silicone rubber (SR) and Rayon fiber by the help of functional hybrid POSS nanoparticles. Two POSS types were compared, octavinyl‐POSS (O‐POSS) and methacryl‐POSS (M‐POSS), having reactive CC double bonds that can impart in peroxide crosslinking. O‐POSS is nonpolar, whereas M‐POSS is polar and is able to make H‐bond with Rayon fibers. POSS type and their concentrations were examined as the experimental parameters. H‐adhesion tests indicated that both POSS types enhanced the adhesion of SR composites to Rayon fibers compared with control recipe. Specifically, slightly higher values were obtained with the use of M‐POSS. It was observed that both O‐POSS and M‐POSS slowed down the curing rate but increased the degree of crosslinking. The cure extent of O‐POSS containing composites was found to be higher than that of M‐POSS containing ones. Thermal gravimetric analyses revealed that thermal stability of SR composites was significantly improved by the addition of POSS particles. Higher char yield and degradation temperatures were obtained with O‐POSS at higher loadings with respect to M‐POSS. The POSS distribution at lower loading levels was found to be homogenous for both POSS types as observed from scanning electron microscope and transmission electron microscope.
Growing season CO2 exchange and evapotranspiration dynamics among thawing and intact permafrost landforms in the Western Hudson Bay lowlands
Authors: Nwaishi Felix C. , Morison Matthew Q. , Van Huizen Brandon , Khomik Myroslava , Petrone Richard M. , Macrae Merrin L. 
Published: June 2020

AbstractWarming conditions across Canada's subarctic and arctic regions are causing permafrost landforms to thaw, resulting in rapid land cover change, including conversion of peat plateaus to wetland and thermokarst. These changes have important implications for northern ecosystems, including shifting controls on carbon uptake and release functions, as well as altering evapotranspiration (ET) rates, which form feedbacks with climatic change. Four landforms (peat plateau, sedge lawn, channel fen, and a thermokarst shoreline collapse scar) in the Hudson Bay Lowlands, northern Manitoba, were instrumented for weekly chamber measurements of carbon dioxide (CO2) and water vapor flux over a summer season (May to September 2014). Relative to other landforms, thermokarst CO2 exchange was characterized by high respiration rates early in the season, which decreased and were offset later in the season by CO2 uptake driven by sedge productivity. For all landforms, ET peaked post‐snowmelt during rapid active layer thaw, and decreased throughout the growing season, controlled primarily by atmospheric vapor deficits. This work shows distinct differences in CO2 exchange and ET between intact and thawing permafrost features. While representative of small‐scale processes in a single study region over one growing season, the results presented in this study have important implications for our understanding of ecohydrological and biogeochemical functioning of subarctic landscapes under future climates.
Management of severe pulmonary Langerhans cell histiocytosis in children
Authors: Eckstein Olive S. , Nuchtern Jed G. , Mallory George B. , Guillerman R. Paul , Musick Matthew A. , Barclay Mhairi , Bhatt Jayesh M. , Davies Patrick , Grundy Richard G. , Martin Alice , Hilliard Tom , Lowis Stephen P. , Picton Susan , Nanduri Vasanta , Visser Johannes , Allen Carl E. , McClain Kenneth L. 
Published: June 2020

AbstractPatients with pulmonary Langerhans cell histiocytosis (LCH) typically have a benign course but may have extensive cystic lung disease with rare life‐threatening complications including multiple and recurrent pneumothoraces and respiratory failure. We report seven severely affected pediatric patients treated with chemotherapy, aggressive chest tube management, and pleurodesis of whom five survived. Patients with extraordinary amounts of pulmonary cystic disease and multiple pneumothoraces due to LCH can have remarkable, curative outcomes with early recognition, optimal LCH‐directed therapy, and supportive care.
Imputation of missing covariate in randomized controlled trials with a continuous outcome: Scoping review and new results
Authors: Kayembe Mutamba T. , Jolani Shahab , Tan Frans E. S. , van Breukelen Gerard J. P. 
Published: June 2020

SummaryIn this article, we first review the literature on dealing with missing values on a covariate in randomized studies and summarize what has been done and what is lacking to date. We then investigate the situation with a continuous outcome and a missing binary covariate in more details through simulations, comparing the performance of multiple imputation (MI) with various simple alternative methods. This is finally extended to the case of time‐to‐event outcome. The simulations consider five different missingness scenarios: missing completely at random (MCAR), at random (MAR) with missingness depending only on the treatment, and missing not at random (MNAR) with missingness depending on the covariate itself (MNAR1), missingness depending on both the treatment and covariate (MNAR2), and missingness depending on the treatment, covariate and their interaction (MNAR3). Here, we distinguish two different cases: (1) when the covariate is measured before randomization (best practice), where only MCAR and MNAR1 are plausible, and (2) when it is measured after randomization but before treatment (which sometimes occurs in nonpharmaceutical research), where the other three missingness mechanisms can also occur. The proposed methods are compared based on the treatment effect estimate and its standard error. The simulation results suggest that the patterns of results are very similar for all missingness scenarios in case (1) and also in case (2) except for MNAR3. Furthermore, in each scenario for continuous outcome, there is at least one simple method that performs at least as well as MI, while for time‐to‐event outcome MI is best.
Proximate sharing of geo data using the credit‐considered mobile edge computing server switching control scheme
Authors: Huang Chung‐Ming , Chen Pin‐Jui 
Published: June 2020

SummaryThis paper proposed a mobile edge computing (MEC)‐based point of interests (POIs) downloading and proximate sharing system for a group of people, who belong to the same mobile social networks in proximity (MSN‐P) and whose handheld devices are connected in a tree‐like structure. Using the proposed system, the root handheld device plays the role of an MEC server and is charge of downloading POIs' contents from the remote cloud server using 4G/5G cellular network and then forwarding POIs' contents to other group members' handheld devices using device‐to‐device (D2D) communication. Since the number of connected handheld devices in each handheld device is limited using D2D communication, this work proposed a control scheme called k‐Connection‐Limited and n‐Hop (kCL‐nH) tree topology's construction scheme to achieve the proximate sharing of POIs' contents. Additionally, since the root handheld device consumes more battery power than others, this work proposed a control scheme that has each group member's handheld device to be the root handheld device alternatively. A credit scheme was thus proposed to denote each handheld device's contribution, which is referred for the selecting of the next root handheld device, to achieve the fairness concern. Then, the control scheme, which is executed in the corresponding MEC server, considering both remaining battery power and credit for the switching of the root handheld device was designed. The proposed method was developed using Wi‐Fi Direct over the iOS system. Experimental results have shown some interested results among power consumption, downloaded data volume and fairness among all handheld devices.
Opportunities for Single‐Cell Sequencing in Synthetic Biology
Authors: Wollny Damian 
Published: June 2020

AbstractSingle‐cell sequencing describes the ability to extract information from a single cell among a heterogeneous mix of cell types by sequencing its DNA or RNA. The development of this technology created tremendous excitement in biology. Akin to gaining higher resolution on a microscope, single‐cell sequencing opened our eyes towards previously unknown cellular heterogeneity and the underlying molecular mechanisms. This technology, however, could in principle be applied to any non‐living particle capable of carrying nucleotides. This article proposes the application of single‐cell sequencing in synthetic biology in order to analyze large numbers of artificially‐generated or re‐engineered synthetic cells simultaneously. The high‐throughput nature of this technology provides the opportunity to test multiple hypotheses in parallel and thus accelerate the pace of discovery. Synthetic biology serves as a particularly exciting example of many overlooked non‐canonical applications of single‐cell sequencing.
CircRNA circ_POLA2 promotes lung cancer cell stemness via regulating the miR‐326/GNB1 axis
Authors: Fan Zhaohui , Bai Yongkang , Zhang Qian , Qian Pudong 
Published: June 2020

AbstractCircular RNAs (CircRNAs) are a group of noncoding RNAs that have essential function in the development and progression of various cancers. The expression pattern and function of circRNA in lung cancer is not fully understood. In the present study, we aimed to investigate the expression profiles and underlying mechanism of circRNA circ_POLA2 in lung cancer cell stemness. Circ_POLA2 was highly expressed in lung cancer tissues and predicted a poor prognosis in lung cancer patients. Knockdown of circ_POLA2 inhibited the stemness of lung cancer cells, which is evident by the decreased sphere‐formation ability, ALDH1 activity, and stemness marker expression, but had no effects on cell viability. Mechanistically, circ_POLA2 functioned as a ceRNA by sponging miR‐326. Furthermore, miR‐326 negatively regulated G protein subunit beta 1 (GNB1) expression by targeting its 3′‐UTR (untranslated region). Intriguingly, we found that GNB1 was overexpressed and associated with poor prognosis in lung cancer patients. Overexpression of GNB1 could antagonize the inhibitory effect of circ_POLA2 knockdown on lung cancer cell stemness. In conclusion, circ_POLA2 promotes lung cancer cell stemness and progression via regulating the miR‐326/GNB1 axis, which might serve as a novel therapeutic target for lung cancer patients.
Promising features for poly(vinyl chloride) enriched with Moringa oleifera: Photostability, rheological, mechanical, thermal and antibacterial properties
Authors: Khalil Ahmed M. , Abdel‐Monem Reham A. , Rabie Samira T. 
Published: June 2020

AbstractPoly(vinyl chloride) (PVC) was loaded with various contents of Moringa oleifera (MO) leaves extract. The changes in the structure arising after loading MO into the polymeric matrix were monitored. In addition, their rheological and mechanical properties were investigated. Some thermal analyses techniques were performed to demonstrate any change in the thermal stability of PVC before and after adding MO. PVC/MO exhibited noticeable antibacterial efficiency when evaluated against Gram‐positive and Gram‐negative bacteria. A favorable antibacterial efficiency of PVC/MO boosted with increasing of MO content from 5% to 25% by weight when introduced into PVC. The photostability of PVC enriched with MO was investigated. The change in the rate of dehydrochlorination for PVC was detected. It was indicated with liberating HCl from the polymeric matrix.
The Fukushima effect at home: The changing role of domestic actors in Japanese energy policy
Authors: Fraser Timothy , Aldrich Daniel P. 
Published: June 2020

AbstractThis paper reviews the changing role of domestic political institutions, including local governments and courts, in Japan's energy policy over the 8 years since the Fukushima disaster, focusing on the nuclear and renewable power industries. We explain how a variety of hidden subsidies created financial dependency in communities hosting nuclear power plants and led to local officials hoping to restart nuclear power plants after the meltdowns despite wide‐scale opposition. Later, the introduction of a feed‐in tariff (FiT) brought a wider range of towns into the field of renewable energy, but vulnerable towns with weaker social networks continue to bear a large share of Japan's energy infrastructure. Courts, prefectures, and local firms have become intervening agents in the renewable energy market, but utilities have pushed back, encouraging the state to overturn the FiT and create auctions for renewable power contracts instead. With subnational governments and courts more powerful in energy policy since the meltdowns, and a variety of new actors involved in renewable energy, post‐Fukushima energy policy has become more democratized.This article is categorized under:The Carbon Economy and Climate Mitigation > Decarbonizing Energy and/or Reducing Demand
The Tocantins-Araguaia Basin as a migratory route and a wintering area of Falco peregrinus (Aves, Falconidae)
Authors: Dornas Túlio , Menq Willian , Junqueira Tiago , Santos Estevão F. 
Published: June 2020

AbstractThe PeregrineFalco peregrinus, is an Nearctic migrant to Brazil where its status in central Brazil is still poorly known. Herein we present a compilation of records of the species from the state of Tocantins and comment on its use of a wintering site in the state of Goiás. These records show that the Tocantins-Araguaia River Basin is a migration route for the species, and therefore a mid-continental migration route through the interior of South America.