bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long‐term metabolic follow‐up and clinical outcome of 35 patients with maple syrup urine disease
Authors: Abi‐Wardé Marie‐Thérèse , Roda Célina , Arnoux Jean‐Baptiste , Servais Aude , Habarou Florence , Brassier Anais , Pontoizeau Clément , Barbier Valérie , Bayart Manuella , Leboeuf Virginie , Chadefaux‐Vekemans Bernadette , Dubois Sandrine , Assoun Murielle , Belloche Claire , Alili Jean‐Meidi , Husson Marie‐Caroline , Lesage Fabrice , Dupic Laurent , Theuil Benoit , Ottolenghi Chris , de Lonlay Pascale 
Published: September 2017

AbstractBackgroundMaple syrup urine disease (MSUD) is a rare disease that requires a protein‐restricted diet for successful management. Little is known, however, about the psychosocial outcome of MSUD patients. This study investigates the relationship between metabolic and clinical parameters and psychosocial outcomes in a cohort of patients with neonatal‐onset MSUD.MethodsData on academic achievement, psychological care, family involvement, and biochemical parameters were collected from the medical records of neonatal MSUD patients treated at Necker Hospital (Paris) between 1964 and 2013.ResultsThirty‐five MSUD patients with a mean age of 16.3 (2.1–49.0) years participated. Metabolic decompensations (plasma leucine >380 μmol/L) were more frequent during the first year of life and after 15 years, mainly due to infection and dietary noncompliance, respectively. Leucine levels increased significantly in adulthood: 61.5% of adults were independent and achieved adequate social and professional integration; 56% needed occasional or sustained psychological or psychiatric care (8/19, with externalizing, mood, emotional, and anxiety disorders being the most common). Patients needing psychiatric care were significantly older [mean and standard deviation (SD) 22.6 (7.7) years] than patients needing only psychological follow‐up [mean (SD) 14.3 (8.9) years]. Patients with psychological follow‐up experienced the highest lifetime number of decompensations; 45% of families had difficulty coping with the chronic disease. Parental involvement was negatively associated with the number of lifetime decompensations.ConclusionAdults had increased levels of plasma leucine, consistent with greater chronic toxicity. Psychological care was associated with age and number of decompensations. In addition, parental involvement appeared to be crucial in the management of MSUD patients.
The Transatlantic Trade and Investment Partnership: Limits on negotiating behind the border barriers
Authors: Aggarwal Vinod K. , Evenett Simon J. 
Published: September 2017

AbstractThis special issue focuses on the difficulties of negotiating the Transatlantic Trade and Investment Partnership (TTIP), with contributions by scholars from different perspectives. This introductory article briefly examines the trend to mega-FTAs of which TTIP is a leading example. It then reviews the contributions to this special issue, drawing on an analytical approach that reflects extant work on transnational and transgovernmental relations. This approach, we contend, helps to understand the stark mismatch between the desire of some parties to negotiate binding trade rules on behind-the-border regulatory policies in certain key sectors of national economies and the progress made in TTIP talks. We then highlight the significance of some key actors in a case study of failed E.U. attempts to include financial sector reforms and associated regulatory processes in TTIP.
Optimizing Visits to the Site of Death for Bereaved Families After Disasters and Terrorist Events
Authors: Kristensen Pål , Dyregrov Atle , Weisæth Lars , Straume Marianne , Dyregrov Kari , Heir Trond , Bugge Renate Grønvold 
Published: September 2017

AbstractIn recent years it has been common after disasters and terrorist events to offer bereaved families the opportunity to visit the place where their loved ones died. Many report that such visits are beneficial in processing their loss. Various factors, both cognitive (eg, counteracting disbelief) and existential or emotional (eg, achieving a sense of closeness to the deceased), are associated with the experienced benefit. Nonetheless, exacerbations of trauma and grief reactions (eg, re-enactment fantasies) are common, with some of the bereaved also reporting adverse reactions after the visit. Subsequently, proper preparations are a prerequisite before such visits take place. This article describes how to optimize collective visits to the site of death after disasters or terrorist events for bereaved families. Important questions—for example, concerning those who should be responsible for organizing a visit and those who should be invited, the timing of the visit, what can be done at the site, the need for support personnel, and other practical issues—are discussed and general guidelines are recommended. (Disaster Med Public Health Preparedness. 2018;12:523–527)
Dietaryl-arginine inhibits intestinalClostridium perfringenscolonisation and attenuates intestinal mucosal injury in broiler chickens
Authors: Zhang Beibei , Lv Zengpeng , Li Huixian , Guo Shuangshuang , Liu Dan , Guo Yuming 
Published: September 2017

AbstractWe investigated the effects of dietaryl-arginine level and feeding duration on the intestinal damage of broilers induced byClostridium perfringens(CP)in vivo, and the antimicrobial effect of its metabolite nitric oxide (NO)in vitro. Thein vivoexperiment was designed as a factorial arrangement of three dietary treatments×two challenge statuses. Broilers were fed a basal diet (CON) or a high-arginine diet (ARG) containing 1·87 %l-arginine, or CON for the first 8 d and ARG from days 9 to 28 (CON/ARG). Birds were co-infected with or withoutEimeriaand CP (EM/CP). EM/CP challenge led to intestinal injury, as evidenced by lower plasmad-xylose concentration (P<0·01), higher paracellular permeability in the ileum (P<0·05) and higher numbers ofEscherichia coli(P<0·05) and CP (P<0·001) in caecal digesta; however, this situation could be alleviated byl-arginine supplementation (P<0·05). The intestinalclaudin-1andoccludinmRNA expression levels were decreased (P<0·05) following EM/CP challenge; this was reversed byl-arginine supplementation (P<0·05). Moreover, EM/CP challenge up-regulated (P<0·05)claudin-2, interferon-γ (IFN-γ), toll-like receptor 2 and nucleotide-binding oligomerisation domain 1 (NOD1) mRNA expression, andl-arginine supplementation elevated (P<0·05)IFN-γ,IL-10andNOD1mRNA expression.In vitrostudy showed that NO had bacteriostatic activity against CP (P<0·001). In conclusion,l-arginine supplementation could inhibit CP overgrowth and alleviate intestinal mucosal injury by modulating innate immune responses, enhancing barrier function and producing NO.
A novel shock tube with a laser–plasma driver
Authors: Kai Y. , Garen W. , Schlegel T. , Teubner U. 
Published: September 2017

AbstractA novel method to generate shock waves in small tubes is demonstrated. A femtosecond laser is applied to generate an optical breakdown an aluminum film as target. Due to the sudden appearance of this non-equilibrium state of the target, a shock wave is induced. The shock wave is further driven by the expanding high-pressure plasma (up to 10 Mbar), which serves as a quasi-piston, until the plasma recombines. The shock wave then propagates further into a glass capillary (different square capillaries with hydraulic diameter D down to 50 µm are applied). Shock wave propagation is investigated by laser interferometry. Although the plasma is an unsteady driver, due to the geometrical confinement of the capillaries, rather strong micro shocks can still propagate as far as 35 times D. In addition to the experiments, the initial conditions of this novel method are investigated by hydrocode simulations using MULTI-fs.
An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio
Authors: Sadybekov Anastasiia , Tian Chen , Arnesano Cosimo , Katritch Vsevolod , Herring Bruce E. 
Published: September 2017

AbstractThe Rho guanine nucleotide exchange factor (RhoGEF) Trio promotes actin polymerization by directly activating the small GTPase Rac1. Recent studies suggest that autism spectrum disorder (ASD)-related behavioral phenotypes in animal models of ASD can be produced by dysregulation of Rac1’s control of actin polymerization at glutamatergic synapses. Here, in humans, we discover a large cluster of ASD-related de novo mutations in Trio’s Rac1 activating domain, GEF1. Our study reveals that these mutations produce either hypofunctional or hyperfunctional forms of Trio in rodent neurons in vitro. In accordance with pathological increases or decreases in glutamatergic neurotransmission observed in animal models of ASD, we find that these mutations result in either reduced synaptic AMPA receptor expression or enhanced glutamatergic synaptogenesis. Together, our findings implicate both excessive and reduced Trio activity and the resulting synaptic dysfunction in ASD-related pathogenesis, and point to the Trio-Rac1 pathway at glutamatergic synapses as a possible key point of convergence of many ASD-related genes.
Polymorphisms in MICA, but not in DEPDC5, HCP5 or PNPLA3, are associated with chronic hepatitis C-related hepatocellular carcinoma
Authors: Hai Hoang , Tamori Akihiro , Thuy Le Thi Thanh , Yoshida Kanako , Hagihara Atsushi , Kawamura Etsushi , Uchida-Kobayashi Sawako , Morikawa Hiroyasu , Enomoto Masaru , Murakami Yoshiki , Kawada Norifumi 
Published: September 2017

AbstractRecently, the MICA rs2596542 and DEPDC5 rs1012068 variants in Japanese individuals as well as the HCP5 rs2244546 and PNPLA3 rs738409 variants in European individuals have been found associated with hepatocellular carcinoma (HCC). The present study determined which single nucleotide polymorphism (SNP) is the most predictive for developing hepatitis C virus (HCV)-related HCC in a Japanese cohort. Of the 4 SNPs analysed, only the MICA genotypes were significantly associated with development of HCC (p = 0.0185). The major (MA), hetero (HE), and minor (MI) genotypes occurred in 40%, 41%, and 19% of HCC patients and in 43%, 47%, and 10% of non-HCC patients, respectively. Interestingly, the MICA genotype was significantly correlated with MICA mRNA and soluble protein levels. In patients older than 70 years, the MI genotype was significantly associated with HCC development. In addition, the MI genotype was related to HCC development when the platelet count range was 10–15 × 104/μL, corresponding with the fibrosis stage; but not when the range was less than 10, indicating advanced fibrosis; or greater than 15 × 104/μL, as mild fibrosis. Thus, polymorphisms in MICA, but not in DEPDC5, HCP5 or PNPLA3, are associated with HCC development in Japanese patients with chronic HCV infection.
A ring-polymer model shows how macromolecular crowding controls chromosome-arm organization in Escherichia coli
Authors: Jeon Chanil , Jung Youngkyun , Ha Bae-Yeun 
Published: September 2017

AbstractMacromolecular crowding influences various cellular processes such as macromolecular association and transcription, and is a key determinant of chromosome organization in bacteria. The entropy of crowders favors compaction of long chain molecules such as chromosomes. To what extent is the circular bacterial chromosome, often viewed as consisting of “two arms”, organized entropically by crowding? Using computer simulations, we examine how a ring polymer is organized in a crowded and cylindrically-confined space, as a coarse-grained bacterial chromosome. Our results suggest that in a wide parameter range of biological relevance crowding is essential for separating the two arms in the way observed with Escherichia coli chromosomes at fast-growth rates, in addition to maintaining the chromosome in an organized collapsed state. Under different conditions, however, the ring polymer is centrally condensed or adsorbed onto the cylindrical wall with the two arms laterally collapsed onto each other. We discuss the relevance of our results to chromosome-membrane interactions.
The histone deacetylase SIRT6 blocks myostatin expression and development of muscle atrophy
Authors: Samant Sadhana A. , Kanwal Abhinav , Pillai Vinodkumar B. , Bao Riyue , Gupta Mahesh P. 
Published: September 2017

AbstractMuscle wasting, also known as cachexia, is associated with many chronic diseases, which worsens prognosis of primary illness leading to enhanced mortality. Molecular basis of this metabolic syndrome is not yet completely understood. SIRT6 is a chromatin-bound member of the sirtuin family, implicated in regulating many cellular processes, ranging from metabolism, DNA repair to aging. SIRT6 knockout (SIRT6-KO) mice display loss of muscle, fat and bone density, typical characteristics of cachexia. Here we report that SIRT6 depletion in cardiac as well as skeletal muscle cells promotes myostatin (Mstn) expression. We also observed upregulation of other factors implicated in muscle atrophy, such as angiotensin-II, activin and Acvr2b, in SIRT6 depleted cells. SIRT6-KO mice showed degenerated skeletal muscle phenotype with significant fibrosis, an effect consistent with increased levels of Mstn. Additionally, we observed that in an in vivo model of cancer cachexia, Mstn expression coupled with downregulation of SIRT6. Furthermore, SIRT6 overexpression downregulated the cytokine (TNFα-IFNγ)-induced Mstn expression in C2C12 cells, and promoted myogenesis. From the ChIP assay, we found that SIRT6 controls Mstn expression by attenuating NF-κB binding to the Mstn promoter. Together, these data suggest a novel role for SIRT6 in maintaining muscle mass by controlling expression of atrophic factors like Mstn and activin.
Highly Enhanced TMR Ratio and Δ for Double MgO-based p-MTJ Spin-Valves with Top Co2Fe6B2 Free Layer by Nanoscale-thick Iron Diffusion-barrier
Authors: Lee Seung-Eun , Baek Jong-Ung , Park Jea-Gun 
Published: September 2017

AbstractFor double MgO-based p-MTJ spin-valves with a top Co2Fe6B2 free layer ex-situ annealed at 400 °C, the insertion of a nanoscale-thickness Fe diffusion barrier between the tungsten (W) capping layer and MgO capping layer improved the face-centered-cubic (f.c.c.) crystallinity of both the MgO capping layer and tunneling barrier by dramatically reducing diffusion of W atoms from the W capping layer into the MgO capping layer and tunneling barrier, thereby enhancing the TMR ratio and thermal stability (Δ). In particular, the TMR ratio was extremely sensitive to the thickness of the Fe barrier; it peaked (154%) at about 0.3 nm (the thickness of only two atomic Fe layers). The effect of the diffusion barrier originated from interface strain.
Detection of clinically relevant copy number alterations in oral cancer progression using multiplexed droplet digital PCR
Authors: Hughesman Curtis B. , Lu X. J. David , Liu Kelly Y. P. , Zhu Yuqi , Towle Rebecca M. , Haynes Charles , Poh Catherine F. 
Published: September 2017

AbstractCopy number alterations (CNAs), a common genomic event during carcinogenesis, are known to affect a large fraction of the genome. Common recurrent gains or losses of specific chromosomal regions occur at frequencies that they may be considered distinctive features of tumoral cells. Here we introduce a novel multiplexed droplet digital PCR (ddPCR) assay capable of detecting recurrent CNAs that drive tumorigenesis of oral squamous cell carcinoma. Applied to DNA extracted from oral cell lines and clinical samples of various disease stages, we found good agreement between CNAs detected by our ddPCR assay with those previously reported using comparative genomic hybridization or single nucleotide polymorphism arrays. Furthermore, we demonstrate that the ability to target specific locations of the genome permits detection of clinically relevant oncogenic events such as small, submicroscopic homozygous deletions. Additional capabilities of the multiplexed ddPCR assay include the ability to infer ploidy level, quantify the change in copy number of target loci with high-level gains, and simultaneously assess the status and viral load for high-risk human papillomavirus types 16 and 18. This novel multiplexed ddPCR assay therefore may have clinical value in differentiating between benign oral lesions from those that are at risk of progressing to oral cancer.
Recyclable Polydimethylsiloxane Network Crosslinked by Dynamic Transesterification Reaction
Authors: Zhang Huan , Cai Chao , Liu Wenxing , Li Dongdong , Zhang Jiawei , Zhao Ning , Xu Jian 
Published: September 2017

AbstractThis article reports preparation of a crosslinked polydimethylsiloxane (PDMS) network via dynamic transesterification reaction between PDMS-diglycidyl ether and pripol 1017 with Zn(OAc)2 as the catalyst. The thermal dynamic nature of the network was investigated by the creep-recovery and stress-relaxation tests. The synthesized PDMS elastomer showed excellent solvent resistance even under high temperature, and could be reprocessed by hot pressing at 180 °C with the mechanical properties maintained after 10 cycles. Application of the PDMS elastomer in constructing micro-patterned stamps repeatedly has been demonstrated. The high plastic temperature and good solvent resistance distinguish the research from other reported thermoplastic PDMS elastomers and broaden the practical application areas.
Dually functioned core-shell NaYF4:Er3+/Yb3+@NaYF4:Tm3+/Yb3+ nanoparticles as nano-calorifiers and nano-thermometers for advanced photothermal therapy
Authors: Zhang Yanqiu , Chen Baojiu , Xu Sai , Li Xiangping , Zhang Jinsu , Sun Jiashi , Zheng Hui , Tong Lili , Sui Guozhu , Zhong Hua , Xia Haiping , Hua Ruinian 
Published: September 2017

AbstractTo realize photothermal therapy (PTT) of cancer/tumor both the photothermal conversion and temperature detection are required. Usually, the temperature detection in PTT needs complicated instruments, and the therapy process is out of temperature control in the present investigations. In this work, we attempt to develop a novel material for achieving both the photothermal conversion and temperature sensing and control at the same time. To this end, a core-shell structure with NaYF4:Er3+/Yb3+ core for temperature detection and NaYF4:Tm3+/Yb3+ shell for photothermal conversion was designed and prepared. The crystal structure and morphology of the samples were characterized by X-ray diffraction (XRD), scanning electron microscopy (SEM) and transmission electron microscopy (TEM). Furthermore, the temperature sensing properties for the NaYF4:Er3+/Yb3+ and core-shell NaYF4:Er3+/Yb3+@NaYF4:Tm3+/Yb3+ nanoparticles were studied. It was found that the temperature sensing performance of the core-shell nanoparticles did not become worse due to coating of NaYF4:Tm3+/Yb3+ shell. The photothermal conversion behaviors were examined in cyclohexane solution based on the temperature response, the NaYF4:Er3+/Yb3+@NaYF4:Tm3+/Yb3+ core-shell nanoparticles exhibited more effective photothermal conversion than that of NaYF4:Er3+/Yb3+ nanoparticles, and a net temperature increment of about 7 °C was achieved by using the core-shell nanoparticles.
Immortalized N/TERT keratinocytes as an alternative cell source in 3D human epidermal models
Authors: Smits Jos P. H. , Niehues Hanna , Rikken Gijs , van Vlijmen-Willems Ivonne M. J. J. , van de Zande Guillaume W. H. J. F. , Zeeuwen Patrick L. J. M. , Schalkwijk Joost , van den Bogaard Ellen H. 
Published: September 2017

AbstractThe strong societal urge to reduce the use of experimental animals, and the biological differences between rodent and human skin, have led to the development of alternative models for healthy and diseased human skin. However, the limited availability of primary keratinocytes to generate such models hampers large-scale implementation of skin models in biomedical, toxicological, and pharmaceutical research. Immortalized cell lines may overcome these issues, however, few immortalized human keratinocyte cell lines are available and most do not form a fully stratified epithelium. In this study we compared two immortalized keratinocyte cell lines (N/TERT1, N/TERT2G) to human primary keratinocytes based on epidermal differentiation, response to inflammatory mediators, and the development of normal and inflammatory human epidermal equivalents (HEEs). Stratum corneum permeability, epidermal morphology, and expression of epidermal differentiation and host defence genes and proteins in N/TERT-HEE cultures was similar to that of primary human keratinocytes. We successfully generated N/TERT-HEEs with psoriasis or atopic dermatitis features and validated these models for drug-screening purposes. We conclude that the N/TERT keratinocyte cell lines are useful substitutes for primary human keratinocytes thereby providing a biologically relevant, unlimited cell source for in vitro studies on epidermal biology, inflammatory skin disease pathogenesis and therapeutics.
AlN/GaN Digital Alloy for Mid- and Deep-Ultraviolet Optoelectronics
Authors: Sun Wei , Tan Chee-Keong , Tansu Nelson 
Published: September 2017

AbstractThe AlN/GaN digital alloy (DA) is a superlattice-like nanostructure formed by stacking ultra-thin ( ≤ 4 monolayers) AlN barriers and GaN wells periodically. Here we performed a comprehensive study on the electronics and optoelectronics properties of the AlN/GaN DA for mid- and deep-ultraviolet (UV) applications. Our numerical analysis indicates significant miniband engineering in the AlN/GaN DA by tuning the thicknesses of AlN barriers and GaN wells, so that the effective energy gap can be engineered from ~3.97 eV to ~5.24 eV. The band structure calculation also shows that the valence subbands of the AlN/GaN DA is properly rearranged leading to the heavy-hole (HH) miniband being the top valence subband, which results in the desired transverse-electric polarized emission. Furthermore, our study reveals that the electron-hole wavefunction overlaps in the AlN/GaN DA structure can be remarkably enhanced up to 97% showing the great potential of improving the internal quantum efficiency for mid- and deep-UV device application. In addition, the optical absorption properties of the AlN/GaN DA are analyzed with wide spectral coverage and spectral tunability in mid- and deep-UV regime. Our findings suggest the potential of implementing the AlN/GaN DA as a promising active region design for high efficiency mid- and deep-UV device applications.
Fast and slow transient charging of Oxide Semiconductor Transistors
Authors: Kim Taeho , Park Sungho , Jeon Sanghun 
Published: September 2017

AbstractThe comprehension of the governing mechanism which affects device instability is one of the most important requirements for the formation of reliable oxide-thin film transistors (TFTs). However, a quantitative analysis of the dominant mechanism of device instability, which stems from charge trapping induced by defects at the oxide semiconductor interface as well as in its bulk, has not yet been systematically performed. In this study, we examined subgap states, charge-transport dynamics, and various trap characteristics of oxide TFTs by multi-frequency C–V, pulse I–V, and transient current methods to achieve a comprehensive understanding of carrier transport and charge trapping mechanisms. We found that the charge trapping behavior of the tested amorphous InHfZnO (a-IHZO) TFT follows a multi-trapping mechanism, such as temperature-independent fast transient charge trapping by resonant drift of the injected electron and temperature-dependent slow transient charge trapping by charge transport from occupied to unoccupied traps. Understanding fast charging and slow charging described in this study can help to understand the root cause of device instability of oxide TFTs and ultimately improve stability and reliability characteristics.