bluuebunny/crossref_metadata_2025_split huggingface dataset:
Differential diagnosis of lipoic acid synthesis defects
Authors: Tort Frederic , Ferrer‐Cortes Xènia , Ribes Antonia 
Published: September 2016

AbstractLipoic acid (LA) is an essential cofactor required for the activity of five multienzymatic complexes that play a central role in the mitochondrial energy metabolism: four 2‐oxoacid dehydrogenase complexes [pyruvate dehydrogenase (PDH), branched‐chain ketoacid dehydrogenase (BCKDH), 2‐ketoglutarate dehydrogenase (2‐KGDH), and 2‐oxoadipate dehydrogenase (2‐OADH)] and the glycine cleavage system (GCS). LA is synthesized in a complex multistep process that requires appropriate function of the mitochondrial fatty acid synthesis (mtFASII) and the biogenesis of iron–sulphur (Fe‐S) clusters. Defects in the biosynthesis of LA have been reported to be associated with multiple and severe defects of the mitochondrial energy metabolism. In recent years, disease‐causing mutations in genes encoding for proteins involved in LA metabolism have been reported: NFU1, BOLA3, IBA57, LIAS, GLRX5, LIPT1, ISCA2, and LIPT2. These studies represented important progress in understanding the pathophysiology and molecular bases underlying these disorders. Here we review current knowledge regarding involvement of LA synthesis defects in human diseases with special emphasis on the diagnostic strategies for these disorders. The clinical and biochemical characteristics of patients with LA synthesis defects are discussed and a workup for the differential diagnosis proposed.
Creating New Strategies to Enhance Postpartum Health and Wellness
Authors: Cornell Andria , McCoy Carolyn , Stampfel Caroline , Bonzon Erin , Verbiest Sarah 
Published: September 2016

Abstract
Over the past 5 years there have been a number of new initiatives focused on improving birth outcomes and reducing infant mortality, including a renewed focus on the complex interactions between motherhood and infancy that influence lifelong health trajectories. Beginning in 2012, the Association of Maternal & Child Health Programs (AMCHP) facilitated a series of meetings to enhance coordination across initiatives. Emerging from these conversations was a shared desire across stakeholders to reimagine the postpartum visit and improve postpartum care and wellness. AMCHP convened a Postpartum Think-Tank Meeting in 2014 to map the system of postpartum care and identify levers for its transformation. The meeting findings are presented in an infographic which frames the challenges and proposed solutions from the woman’s perspective. The infographic describes maternal issues and concerns along with a concise summary of the recommended solutions. Strategies include creating integrated services and seamless care transitions from preconception through postpartum and well-baby; business, community, and government support, including paid parental leave, health insurance and spaces for new parents to meet each other; and mother-centered care, including quality visits on her schedule with complete and culturally appropriate information. These solutions catalyze a postpartum system of care that supports women, children, and families by infusing new ideas and capitalizing on existing opportunities and resources.
The effect of β‐amyloid positivity on cerebral metabolism in cognitively normal seniors
Authors: Bozoki Andrea C. , Zdanukiewicz Monica , Zhu David C. ,   Alzheimer's Disease Neuroimaging Initiative
Published: September 2016

AbstractIntroductionWe evaluated the effect of cerebral amyloid‐β (Aβ) deposition in cognitively normal (CN) seniors on regional metabolism of specific brain regions known to be affected by p‐tau deposition.MethodsFluorodeoxyglucose positron emission tomography (FDG‐PET), volumetric magnetic resonance imaging scans, and global amyloid standardized uptake value ratios (SUVr) were obtained for 210 CNs from the Alzheimer's Disease Neuroimaging Initiative‐2 (ADNI2). Region of interest (ROI) extraction was used to obtain functional SUVr from six bilateral ROIs: amygdala (AM), entorhinal cortex (EC), hippocampus, lateral orbitofrontal, posterior cingulate (PC), and middle temporal gyrus. Every metabolic SUVr set was averaged and analyzed against the corresponding subject's amyloid SUVr. Correlation analyses were conducted on the full group and between APOE ε4‐positive and APOE ε4‐negative subgroups.ResultsThe APOE ε4+ group exhibited significantly higher metabolism in the EC (r = 0.270, P = .038) and AM (r = 0.267, P = .041). When a significance of the difference test was conducted between the APOE ε4+ and APOE ε4‐groups, these same regions remained significant: P = .012 and P = .016, respectively. By contrast, the APOE ε4 group displayed only the conventionally expected result of reduced regional metabolism in the PC (r = −0.161, P = .048), with higher Aβ load.ConclusionsThe effect of amyloid positivity on brain metabolism is regionally specific, and APOE ε4 status substantially modulates regional glucose uptake in these regions. The APOE ε4 allele may cause earlier emergence of clinical symptoms in AD via a mechanism that influences regional metabolic demand in specifically those regions where p‐tau deposition is known to occur earliest.
Informing Conservation: Towards 14C Wiggle-Matching of Short Tree-Ring Sequences from Medieval Buildings in England
Authors: Bayliss A , Marshall P , Tyers C , Bronk Ramsey C , Cook G , Freeman S P H T , Griffiths S 
Published: September 2016

AbstractThis study tested whether accurate dating by accelerator mass spectrometry (AMS) radiocarbon wiggle-matching of short tree-ring series (~30 annual rings) in the Medieval period could be achieved. Scientific dating plays a central role in the conservation of historic buildings in England. Precise dating helps assess the significance of particular buildings or elements of their fabric, thus allowing us to make informed decisions about their repair and protection. Consequently, considerable weight, both financial and legal, can be attached to the precision and accuracy of this dating. Dendrochronology is the method of choice, but in a proportion of cases this is unable to provide calendar dates. Hence, we would like to be able to use 14C wiggle-matching to provide a comparable level of precision and reliability, particularly on shorter tree-ring sequences (~30 annual growth rings) that up until now would not routinely be sampled. We present the results of AMS wiggle-matching five oak tree-ring sequences, spanning the period covered by the vast majority of surviving Medieval buildings in England (about AD 1180–1540) when currently we have only decadal and bidecadal calibration data.
An introduction to light extinction spectrometry as a diagnostic for dust particle characterisation in dusty plasmas
Authors: Barbosa S. , Onofri F. R. A. , Couëdel L. , Wozniak M. , Montet C. , Pelcé C. , Arnas C. , Boufendi L. , Kovacevic E. , Berndt J. , Grisolia C. 
Published: September 2016

In this article, a detailed introduction of the light extinction spectrometry (LES) diagnostics is given. LES allows the direct in situ measurement of the particle size distribution and absolute concentration of dust clouds levitating in plasmas. Using a relatively simple and compact experimental set-up, the dust cloud parameters can be recovered with a good accuracy making minimum assumptions on their physical properties. Special emphases are given to the inversion procedure of light extinction spectra and all the required particle shape, refractive index and light extinction models. The parameter range and the limitations of LES are discussed. Two measurements in low-pressure gas discharges are presented: (i) in a direct-current (DC) glow discharge in which nanoparticles are growing from the sputtering of a tungsten cathode and (ii) in an argon–silane radio-frequency discharge. They demonstrate the capabilities of the LES technique to characterise, in situ and in real-time, the growth dynamics of nanoparticles in the size range 5–100 nm and volume concentrations in the range from a few ppb to a few ppm.
ATM function and its relationship with ATM gene mutations in chronic lymphocytic leukemia with the recurrent deletion (11q22.3-23.2)
Authors: Jiang Y , Chen H-C , Su X , Thompson P A , Liu X , Do K-A , Wierda W , Keating M J , Plunkett W 
Published: September 2016

AbstractApproximately 10–20% of chronic lymphocytic leukemia (CLL) patients exhibit del(11q22–23) before treatment, this cohort increases to over 40% upon progression following chemoimmunotherapy. The coding sequence of the DNA damage response gene, ataxia-telangiectasia-mutated (ATM), is contained in this deletion. The residual ATM allele is frequently mutated, suggesting a relationship between gene function and clinical response. To investigate this possibility, we sought to develop and validate an assay for the function of ATM protein in these patients. SMC1 (structural maintenance of chromosomes 1) and KAP1 (KRAB-associated protein 1) were found to be unique substrates of ATM kinase by immunoblot detection following ionizing radiation. Using a pool of eight fluorescence in situ hybridization-negative CLL samples as a standard, the phosphorylation of SMC1 and KAP1 from 46 del (11q22–23) samples was analyzed using normal mixture model-based clustering. This identified 13 samples (28%) that were deficient in ATM function. Targeted sequencing of the ATM gene of these samples, with reference to genomic DNA, revealed 12 somatic mutations and 15 germline mutations in these samples. No strong correlation was observed between ATM mutation and function. Therefore, mutation status may not be taken as an indicator of ATM function. Rather, a direct assay of the kinase activity should be used in the development of therapies.
Nestin+ cells direct inflammatory cell migration in atherosclerosis
Authors: del Toro Raquel , Chèvre Raphael , Rodríguez Cristina , Ordóñez Antonio , Martínez-González José , Andrés Vicente , Méndez-Ferrer Simón 
Published: September 2016

AbstractAtherosclerosis is a leading death cause. Endothelial and smooth muscle cells participate in atherogenesis, but it is unclear whether other mesenchymal cells contribute to this process. Bone marrow (BM) nestin+ cells cooperate with endothelial cells in directing monocyte egress to bloodstream in response to infections. However, it remains unknown whether nestin+ cells regulate inflammatory cells in chronic inflammatory diseases, such as atherosclerosis. Here, we show that nestin+ cells direct inflammatory cell migration during chronic inflammation. In Apolipoprotein E (ApoE) knockout mice fed with high-fat diet, BM nestin+ cells regulate the egress of inflammatory monocytes and neutrophils. In the aorta, nestin+ stromal cells increase ∼30 times and contribute to the atheroma plaque. Mcp1 deletion in nestin+ cells—but not in endothelial cells only— increases circulating inflammatory cells, but decreases their aortic infiltration, delaying atheroma plaque formation and aortic valve calcification. Therefore, nestin expression marks cells that regulate inflammatory cell migration during atherosclerosis.
Trion fine structure and coupled spin–valley dynamics in monolayer tungsten disulfide
Authors: Plechinger Gerd , Nagler Philipp , Arora Ashish , Schmidt Robert , Chernikov Alexey , del Águila Andrés Granados , Christianen Peter C.M. , Bratschitsch Rudolf , Schüller Christian , Korn Tobias 
Published: September 2016

AbstractMonolayer transition-metal dichalcogenides have recently emerged as possible candidates for valleytronic applications, as the spin and valley pseudospin are directly coupled and stabilized by a large spin splitting. The optical properties of these two-dimensional crystals are dominated by tightly bound electron–hole pairs (excitons) and more complex quasiparticles such as charged excitons (trions). Here we investigate monolayer WS2 samples via photoluminescence and time-resolved Kerr rotation. In photoluminescence and in energy-dependent Kerr rotation measurements, we are able to resolve two different trion states, which we interpret as intravalley and intervalley trions. Using time-resolved Kerr rotation, we observe a rapid initial valley polarization decay for the A exciton and the trion states. Subsequently, we observe a crossover towards exciton–exciton interaction-related dynamics, consistent with the formation and decay of optically dark A excitons. By contrast, resonant excitation of the B exciton transition leads to a very slow decay of the Kerr signal.
Influenza B virus non-structural protein 1 counteracts ISG15 antiviral activity by sequestering ISGylated viral proteins
Authors: Zhao Chen , Sridharan Haripriya , Chen Ran , Baker Darren P. , Wang Shanshan , Krug Robert M. 
Published: September 2016

AbstractThe ubiquitin-like protein ISG15 and its conjugation to proteins (ISGylation) are strongly induced by type I interferon. Influenza B virus encodes non-structural protein 1 (NS1B) that binds human ISG15 and provides an appropriate model for determining how ISGylation affects virus replication in human cells. Here using a recombinant virus encoding a NS1B protein defective in ISG15 binding, we show that NS1B counteracts ISGylation-mediated antiviral activity by binding and sequestering ISGylated viral proteins, primarily ISGylated viral nucleoprotein (NP), in infected cells. ISGylated NP that is not sequestered by mutant NS1B acts as a dominant-negative inhibitor of oligomerization of the more abundant unconjugated NP. Consequently formation of viral ribonucleoproteins that catalyse viral RNA synthesis is inhibited, causing decreased viral protein synthesis and virus replication. We verify that ISGylated NP is largely responsible for inhibition of viral RNA synthesis by generating recombinant viruses that lack known ISGylation sites in NP.
Cigarette smoke extract-induced p120-mediated NF-κB activation in human epithelial cells is dependent on the RhoA/ROCK pathway
Authors: Zhang Chao , Qin Shenghui , Qin Lingzhi , Liu Liwei , Sun Wenjia , Li Xiyu , Li Naping , Wu Renliang , Wang Xi 
Published: September 2016

AbstractCigarette smoke exposure is a major cause of chronic obstructive pulmonary disease (COPD), but the underlying molecular inflammatory mechanisms remain poorly understood. Previous studies have found that smoke disrupts cell-cell adhesion by inducing epithelial barrier damage to the adherens junction proteins, primarily E-cadherin (E-cad) and p120-catenin (p120). Recently, the anti-inflammatory role of p120 has drawn increasing attention. In this study, we demonstrate that p120 has a role in the cigarette smoke extract-induced inflammatory response, presumably by regulating NF-κB signaling activation. Mechanistically, we show that p120-mediated NF-κB signaling activation in airway epithelial inflammation is partially RhoA dependent and is independent of E-cad. These results provide novel evidence for the role of p120 in the anti-inflammatory response.
Long term outcome of Aldosteronism after target treatments
Authors: Wu Vin-Cent , Wang Shuo-Meng , Chang Chia-Hui , Hu Ya-Hui , Lin Lian-Yu , Lin Yen-Hung , Chueh Shih-Chieh Jeff , Chen Likwang , Wu Kwan-Dun 
Published: September 2016

AbstractThere exists a great knowledge gap in terms of long-term effects of various surgical and pharmacological treatments on outcomes among primary aldosteronism (PA) patients. Using a validated algorithm, we extracted longitudinal data for all PA patients diagnosed in 1997–2010 and treated in the Taiwan National Health Insurance. We identified 3362 PA patients for whom the mean length of follow-up was 5.75 years. PA has higher major cardiovascular events (MACE) than essential hypertension (23.3% vs 19.3%, p = 0.015). Results from the Cox model suggest a strong effect of adrenalectomy on lowering mortality (HR = 0.23 with residual hypertension and 0.21 with resolved hypertension). While the need for mineralocorticoid receptor antagonist (MRA) after diagnosis suggests that a defined daily dose (DDD) of MRA between 12.5 and 50 mg may alleviate risk of death in a U-shape pattern. A specificity test identified patients who has aldosterone producing adenoma (HR = 0.50, p = 0.005) also confirmed adrenalectomy attenuated all-cause mortality. Adrenalectomy decreases long-term all-cause mortality independently from PA cure from hypertension. Prescription corresponding to a DDD between 12.5 and 50 mg may decrease mortality for patients needing MRA. It calls for more attention on early diagnosis, early treatment and prescription of appropriate dosage of MRA for PA patients.
The effect of electric field intensification at interparticle contacts in microwave sintering
Authors: Qiao Xiuchen , Xie Xiaoying 
Published: September 2016

AbstractThe nature of microwave sintering cannot be explained in the past and has been generally called microwave effect. Here we show that the E-field intensification is the reason of microwave fast sintering of solid state inorganic compounds. The intensification degree varied with dielectric constant of compound, distance between two particles, angle between the direction of E-field and the normal to the surface at the adjacent point of two spheres. Ultra-high temperature caused by E-field intensification leads to fusing of solid materials at contact zone and enhances the mass transportation. The key to develop a microwave energy-saved sintering method is to control the distance between particles and uniformity of particles instead of the particle size.
Polarization twist in perovskite ferrielectrics
Authors: Kitanaka Yuuki , Hirano Kiyotaka , Ogino Motohiro , Noguchi Yuji , Miyayama Masaru , Moriyoshi Chikako , Kuroiwa Yoshihiro 
Published: September 2016

AbstractBecause the functions of polar materials are governed primarily by their polarization response to external stimuli, the majority of studies have focused on controlling polar lattice distortions. In some perovskite oxides, polar distortions coexist with nonpolar tilts and rotations of oxygen octahedra. The interplay between nonpolar and polar instabilities appears to play a crucial role, raising the question of how to design materials by exploiting their coupling. Here, we introduce the concept of ‘polarization twist’, which offers enhanced control over piezoelectric responses in polar materials. Our experimental and theoretical studies provide direct evidence that a ferrielectric perovskite exhibits a large piezoelectric response because of extended polar distortion, accompanied by nonpolar octahedral rotations, as if twisted polarization relaxes under electric fields. The concept underlying the polarization twist opens new possibilities for developing alternative materials in bulk and thin-film forms.
Mammalian Brain Development is Accompanied by a Dramatic Increase in Bipolar DNA Methylation
Authors: Sun Ming-an , Sun Zhixiong , Wu Xiaowei , Rajaram Veena , Keimig David , Lim Jessica , Zhu Hongxiao , Xie Hehuang 
Published: September 2016

AbstractDNA methylation is an epigenetic mechanism critical for tissue development and cell specification. Mammalian brains consist of many different types of cells with assumedly distinct DNA methylation profiles, and thus some genomic loci may demonstrate bipolar DNA methylation pattern, i.e. hypermethylated in one cell subset but hypomethylated in others. Currently, how extensive methylation patterns vary among brain cells is unknown and bipolar methylated genomic loci remain largely unexplored. In this study, we implemented a procedure to infer cell-subset specific methylated (CSM) loci from the methylomes of human and mouse frontal cortices at different developmental stages. With the genome-scale hairpin bisulfite sequencing approach, we demonstrated that the majority of CSM loci predicted likely resulted from the methylation differences among brain cells rather than from asymmetric DNA methylation between DNA double strands. Correlated with enhancer-associated histone modifications, putative CSM loci increased dramatically during early stages of brain development and were enriched for GWAS variants associated with neurological disorder-related diseases/traits. Altogether, this study provides a procedure to identify genomic regions showing methylation differences in a mixed cell population and our results suggest that a set of cis-regulatory elements are primed in early postnatal life whose functions may be compromised in human neurological disorders.
Alu-miRNA interactions modulate transcript isoform diversity in stress response and reveal signatures of positive selection
Authors: Pandey Rajesh , Bhattacharya Aniket , Bhardwaj Vivek , Jha Vineet , Mandal Amit K. , Mukerji Mitali 
Published: September 2016

AbstractPrimate-specific Alus harbor different regulatory features, including miRNA targets. In this study, we provide evidence for miRNA-mediated modulation of transcript isoform levels during heat-shock response through exaptation of Alu-miRNA sites in mature mRNA. We performed genome-wide expression profiling coupled with functional validation of miRNA target sites within exonized Alus, and analyzed conservation of these targets across primates. We observed that two miRNAs (miR-15a-3p and miR-302d-3p) elevated in stress response, target RAD1, GTSE1, NR2C1, FKBP9 and UBE2I exclusively within Alu. These genes map onto the p53 regulatory network. Ectopic overexpression of miR-15a-3p downregulates GTSE1 and RAD1 at the protein level and enhances cell survival. This Alu-mediated fine-tuning seems to be unique to humans as evident from the absence of orthologous sites in other primate lineages. We further analyzed signatures of selection on Alu-miRNA targets in the genome, using 1000 Genomes Phase-I data. We found that 198 out of 3177 Alu-exonized genes exhibit signatures of selection within Alu-miRNA sites, with 60 of them containing SNPs supported by multiple evidences (global-FST > 0.3, pair-wise-FST > 0.5, Fay-Wu’s H < −20, iHS > 2.0, high ΔDAF) and implicated in p53 network. We propose that by affecting multiple genes, Alu-miRNA interactions have the potential to facilitate population-level adaptations in response to environmental challenges.
Rapid and cyclic dust accumulation during MIS 2 in Central Asia inferred from loess OSL dating and grain-size analysis
Authors: Li Yun , Song Yougui , Lai Zhongping , Han Li , An Zhisheng 
Published: September 2016

AbstractDue to lack of reliable proxies from the Westerlies-dominant region, the strength change of Northern Hemisphere Westerlies remains poorly understood. The aim of this study is to provide a reliable paleoclimatic proxy about the Northern Hemisphere Westerlies change. Here we report a 30.7 m thick loess section from the Ili basin directly controlled by the Westerlies. Based on optically stimulated luminescence (OSL) and high resolution grain-size records, we reconstruct the change history of the Westerlies strength during the last glacial period (mainly Marine Isotope Stages 2, MIS2), being similar with the Westerlies index recorded in the Qinghai Lake sediments. Within error limits, all ages are in stratigraphic order. We further compare the climatic records among the Ili loess, Qinghai Lake and the NGRIP, their similarity shows a good climatic coupling relationship among the Central Asia, East Asia and the North Atlantic, and the Westerlies plays a critical influence in transporting the North Atlantic signal to Central and East Asia.