bluuebunny/crossref_metadata_2025_split huggingface dataset:
A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs
Authors: Kokunai Yosuke , Dalle Carine , Vicart Savine , Sternberg Damien , Pouliot Valérie , Bendahhou Said , Fournier Emmanuel , Chahine Mohamed , Fontaine Bertrand , Nicole Sophie 
Published: November 2018

AbstractPeriodic paralyses (PP) are characterized by episodic muscle weakness and are classified into the distinct hyperkalaemic (hyperPP) and hypokalaemic (hypoPP) forms. The dominantly-inherited form of hyperPP is caused by overactivity of Nav1.4 — the skeletal muscle voltage-gated sodium channel. Familial hypoPP results from a leaking gating pore current induced by dominant mutations in Nav1.4 or Cav1.1, the skeletal muscle voltage-gated calcium channel. Here, we report an individual with clinical signs of hyperPP and hypokalaemic episodes of muscle paralysis who was heterozygous for the novel p.Ala204Glu (A204E) substitution located in one region of Nav1.4 poor in disease-related variations. A204E induced a significant decrease of sodium current density, increased the window current, enhanced fast and slow inactivation of Nav1.4, and did not cause gating pore current in functional analyses. Interestingly, the negative impact of A204E on Nav1.4 activation was strengthened in low concentration of extracellular K+. Our data prove the existence of a phenotype combining signs of hyperPP and hypoPP due to dominant Nav1.4 mutations. The hyperPP component would result from gain-of-function effects on Nav1.4 and the hypokalemic episodes of paralysis from loss-of-function effects strengthened by low K+. Our data argue for a non-negligible role of Nav1.4 loss-of-function in familial hypoPP.
The thickness-induced magneto-transport and optic properties enhancement in Sb2Te3 flakes
Authors: Huang Shiu-Ming , Chen Kai-Jui , Yan You-Jhih , Yu Shih-Hsun , Chou Mitch 
Published: November 2018

AbstractThe electric and optical properties were studied in Sb2Te3 with different thickness. It reveals the same resistivity at measured temperatures, but shows a larger magnetoresistance ratio at thicker flakes. All measured data conformed to a linear correlation between magnetoresistance ratio which is one-order enhanced, and mobility over a wide mobility range. A higher photocurrent response is observed in thicker flakes. These results support that the thickness enhances the effective carrier mobility which leads to magneto-transport and optic properties enhancement.
Driving the expression of the Salmonella enterica sv Typhimurium flagellum using flhDC from Escherichia coli results in key regulatory and cellular differences
Authors: Albanna Ayman , Sim Martin , Hoskisson Paul A. , Gillespie Colin , Rao Christopher V. , Aldridge Phillip D. 
Published: November 2018

AbstractThe flagellar systems ofEscherichia coliandSalmonella entericaexhibit a significant level of genetic and functional synteny. Both systems are controlled by the flagellar specific master regulator FlhD4C2. Since the early days of genetic analyses of flagellar systems it has been known thatE. coli flhDCcan complement a ∆flhDCmutant inS. enterica. The genomic revolution has identified how genetic changes to transcription factors and/or DNA binding sites can impact the phenotypic outcome across related species. We were therefore interested in asking: using modern tools to interrogate flagellar gene expression and assembly, what would the impact be of replacing theflhDCcoding sequences inS. entericafor theE. coligenes at theflhDC S. enterciachromosomal locus? We show that even though all strains created are motile, flagellar gene expression is measurably lower whenflhDCECare present. These changes can be attributed to the impact of FlhD4C2DNA recognition and the protein-protein interactions required to generate a stable FlhD4C2complex. Furthermore, our data suggests that inE. colithe internal flagellar FliT regulatory feedback loop has a marked difference with respect to output of the flagellar systems. We argue due diligence is required in making assumptions based on heterologous expression of regulators and that even systems showing significant synteny may not behave in exactly the same manner.
Performance of Deep Learning Architectures and Transfer Learning for Detecting Glaucomatous Optic Neuropathy in Fundus Photographs
Authors: Christopher Mark , Belghith Akram , Bowd Christopher , Proudfoot James A. , Goldbaum Michael H. , Weinreb Robert N. , Girkin Christopher A. , Liebmann Jeffrey M. , Zangwill Linda M. 
Published: November 2018

AbstractThe ability of deep learning architectures to identify glaucomatous optic neuropathy (GON) in fundus photographs was evaluated. A large database of fundus photographs (n = 14,822) from a racially and ethnically diverse group of individuals (over 33% of African descent) was evaluated by expert reviewers and classified as GON or healthy. Several deep learning architectures and the impact of transfer learning were evaluated. The best performing model achieved an overall area under receiver operating characteristic (AUC) of 0.91 in distinguishing GON eyes from healthy eyes. It also achieved an AUC of 0.97 for identifying GON eyes with moderate-to-severe functional loss and 0.89 for GON eyes with mild functional loss. A sensitivity of 88% at a set 95% specificity was achieved in detecting moderate-to-severe GON. In all cases, transfer improved performance and reduced training time. Model visualizations indicate that these deep learning models relied on, in part, anatomical features in the inferior and superior regions of the optic disc, areas commonly used by clinicians to diagnose GON. The results suggest that deep learning-based assessment of fundus images could be useful in clinical decision support systems and in the automation of large-scale glaucoma detection and screening programs.
Clinical implications of changes in the diversity of c-MYC copy number variation after neoadjuvant chemotherapy in breast cancer
Authors: Chung Yul Ri , Kim Hyun Jeong , Kim Milim , Ahn Soomin , Park So Yeon 
Published: November 2018

AbstractChemotherapy can alter the makeup of a tumor cell population by exerting selection pressure. We examined the change in Shannon index, a mathematical diversity measure used in ecology, for c-MYC copy number variation (CNV) after neoadjuvant chemotherapy and evaluated its clinical significance in breast cancer. Associations between Shannon indices for c-MYC CNV in pre- and post-neoadjuvant chemotherapy breast cancer samples and clinicopathologic features of tumors as well as patient survival were analyzed in 144 patients. A change in c-MYC amplification and copy number gain status was found in 14.3% and 33.6% with most cases showing positive to negative conversion. The chemo-sensitive group showed a significant decrease in Shannon index after neoadjuvant chemotherapy. However, there was no difference in diversity indices between pre- and post-neoadjuvant chemotherapy specimens in the chemo-resistant group. In survival analyses, high Shannon indices for c-MYC CNV in post-neoadjuvant chemotherapy samples as well as those in pre-neoadjuvant chemotherapy samples were revealed as independent prognostic factors for poor disease-free survival not only in the whole group but also in the chemo-resistant subgroup. These findings suggest that a change in Shannon index for c-MYC CNV after neoadjuvant chemotherapy reflects chemo-responsiveness and that Shannon indices after neoadjuvant chemotherapy have a prognostic value in breast cancer patients who receive neoadjuvant chemotherapy.
Influence of dietary supplementation with Bacillus licheniformis and Saccharomyces cerevisiae as alternatives to monensin on growth performance, antioxidant, immunity, ruminal fermentation and microbial diversity of fattening lambs
Authors: Jia Peng , Cui Kai , Ma Tao , Wan Fan , Wang Wenyi , Yang Dong , Wang Yunfei , Guo Baolin , Zhao Lifang , Diao Qiyu 
Published: November 2018

AbstractAlternatives to antibiotics for improving productivity and maintaining the health of livestock health are urgently needed. The scope of this research was conducted to investigate the effects of two alternatives (Bacillus licheniformis and Saccharomyces cerevisiae) to monensin on growth performance, antioxidant capacity, immunity, ruminal fermentation and microbial diversity of fattening lambs. One hundred and sixty Dorper × Thin-tailed Han sheep (32 ± 3.45 kg BW) were randomly assigned into 5 treatments of n = 32 lambs/group. Lambs in the control group were fed a basal diet (NC) while the other four treatments were fed basal diets supplemented with monensin (PC), Bacillus licheniformis (BL), Saccharomyces cerevisiae (SC), and the combination of Bacillus licheniformis and Saccharomyces cerevisiae with protease (BS), respectively. The experiment lasted for 66 d. Feed intake was recorded every 2 d and lambs were weighed every 20 d. Ten lambs from each group were slaughtered at the end of the trial, and samples of serum and rumen fluid were collected. The results indicated that the dietary regimen did not affect the dry matter intake (DMI). The average daily gain (ADG) of BS treatment was significantly higher than NC group (P < 0.05). Compared with the NC treatment, the other four supplementation treatments increased the concentration of growth hormone (GH), insulin-like growth factor I (IGF-I) and insulin (INS) (P < 0.05). The malondialdehyde (MDA) and total antioxidant capacity (TAOC) showed no significant difference among the 5 treatments while the activity of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) of BS group was significantly increased (P < 0.05). The supplementation regimen decreased the concentration of ammonia Nitrogen (NH3-N) and increased the content of microbial crude proteins (MCP) (P < 0.05). The supplementation of antibiotics and probiotics reduced the concentrations of acetate and increased the concentrations of propionate (P < 0.05). The supplementation treatments increased the relative abundance of Lentisphaerae, Fibrobacteres and Tenericutes at the phylum level, whereas at the genus level, they increased the relative abundance of Fibrobacter (P < 0.05). Overall, this study confirmed the facilitating effect of B. licheniformis, S. cerevisiae and their compounds on growth performance, improve the antioxidant capacity and immune function, and beneficially manipulate ruminal fermentation and microbial diversity of fatting lambs.
Semiconductor Hyperbolic Metamaterials at the Quantum Limit
Authors: Montaño Inès , Campione Salvatore , Klem John F. , Beechem Thomas E. , Wolf Omri , Sinclair Michael B. , Luk Ting S. 
Published: November 2018

AbstractWe study semiconductor hyperbolic metamaterials (SHMs) at the quantum limit experimentally using spectroscopic ellipsometry as well as theoretically using a new microscopic theory. The theory is a combination of microscopic density matrix approach for the material response and Green’s function approach for the propagating electric field. Our approach predicts absorptivity of the full multilayer system and for the first time allows the prediction of in-plane and out-of-plane dielectric functions for every individual layer constructing the SHM as well as effective dielectric functions that can be used to describe a homogenized SHM.
Gene prioritization, communality analysis, networking and metabolic integrated pathway to better understand breast cancer pathogenesis
Authors: López-Cortés Andrés , Paz-y-Miño César , Cabrera-Andrade Alejandro , Barigye Stephen J. , Munteanu Cristian R. , González-Díaz Humberto , Pazos Alejandro , Pérez-Castillo Yunierkis , Tejera Eduardo 
Published: November 2018

AbstractConsensus strategy was proved to be highly efficient in the recognition of gene-disease association. Therefore, the main objective of this study was to apply theoretical approaches to explore genes and communities directly involved in breast cancer (BC) pathogenesis. We evaluated the consensus between 8 prioritization strategies for the early recognition of pathogenic genes. A communality analysis in the protein-protein interaction (PPi) network of previously selected genes was enriched with gene ontology, metabolic pathways, as well as oncogenomics validation with the OncoPPi and DRIVE projects. The consensus genes were rationally filtered to 1842 genes. The communality analysis showed an enrichment of 14 communities specially connected with ERBB, PI3K-AKT, mTOR, FOXO, p53, HIF-1, VEGF, MAPK and prolactin signaling pathways. Genes with highest ranking were TP53, ESR1, BRCA2, BRCA1 and ERBB2. Genes with highest connectivity degree were TP53, AKT1, SRC, CREBBP and EP300. The connectivity degree allowed to establish a significant correlation between the OncoPPi network and our BC integrated network conformed by 51 genes and 62 PPi. In addition, CCND1, RAD51, CDC42, YAP1 and RPA1 were functional genes with significant sensitivity score in BC cell lines. In conclusion, the consensus strategy identifies both well-known pathogenic genes and prioritized genes that need to be further explored.
Dewetting of monolayer water and isopropanol between MoS2 nanosheets
Authors: Wang Beibei , Kalia Rajiv K. , Nakano Aiichiro , Vashishta Priya D. 
Published: November 2018

AbstractUnderstanding dewetting of solvent molecules confined to layered material (LM) interfaces is crucial to the synthesis of two-dimensional materials by liquid-phase exfoliation. Here, we examine dewetting behavior of water and isopropanol/water (IPA/H2O) mixtures between molybdenum disulfide (MoS2) membranes using molecular dynamics (MD) simulations. We find that a monolayer of water spontaneously ruptures into nanodroplets surrounded by dry regions. The average speed of receding dry patches is close to the speed of sound in air. In contrast, monolayer mixtures of IPA/H2O between MoS2 membranes slowly transform into percolating networks of nanoislands and nanochannels in which water molecules diffuse inside and IPA molecules stay at the periphery of islands and channels. These contrasting behaviors may explain why IPA/H2O mixtures are much more effective than H2O alone in weakening interlayer coupling and exfoliating MoS2 into atomically thin sheets.
A high-resolution streamflow and hydrological metrics dataset for ecological modeling using a regression model
Authors: Irving Katie , Kuemmerlen Mathias , Kiesel Jens , Kakouei Karan , Domisch Sami , Jähnig Sonja C. 
Published: November 2018

AbstractHydrological variables are among the most influential when analyzing or modeling stream ecosystems. However, available hydrological data are often limited in their spatiotemporal scale and resolution for use in ecological applications such as predictive modeling of species distributions. To overcome this limitation, a regression model was applied to a 1 km gridded stream network of Germany to obtain estimated daily stream flow data (m3 s−1) spanning 64 years (1950–2013). The data are used as input to calculate hydrological indices characterizing stream flow regimes. Both temporal and spatial validations were performed. In addition, GLMs using both the calculated and observed hydrological indices were compared, suggesting that the predicted flow data are adequate for use in predictive ecological models. Accordingly, we provide estimated stream flow as well as a set of 53 hydrological metrics at 1 km grid for the stream network of Germany. In addition, we provide an R script where the presented methodology is implemented, that uses globally available data and can be directly applied to any other geographical region.
Brain metastasis DNA methylomes, a novel resource for the identification of biological and clinical features
Authors: Salomon Matthew P. , Orozco Javier I. J. , Wilmott James S. , Hothi Parvinder , Manughian-Peter Ayla O. , Cobbs Charles S. , Scolyer Richard A. , Hoon Dave S. B. , Marzese Diego M. 
Published: November 2018

AbstractBrain metastases (BM) are one the most lethal and poorly managed clinical complications in cancer patients. These secondary tumors represent the most common intracranial neoplasm in adults, most frequently originating from lung cancer, breast cancer, and cutaneous melanoma. In primary brain tumors, such as gliomas, recent advances in DNA methylation profiling have allowed for a comprehensive molecular classification. Such data provide prognostic information, in addition to helping predict patient response to specific systemic therapies. However, epigenetic alterations of metastatic brain tumors with specific biological and translational relevance still require much further exploration. Using the widely employed Illumina Infinium HumanMethylation 450K platform, we have generated a cohort of genome-wide DNA methylomes from ninety-six needle-dissected BM specimens from patients with lung cancer, breast cancer, and cutaneous melanoma with clinical, pathological, and demographic annotations. This resource offers an unprecedented and unique opportunity to identify novel DNA methylation features influencing the behavior of brain metastasis, and thus accelerate the discovery of BM-specific theranostic epigenetic alterations.
Mesoporous single-crystalline MnOx nanofibers@graphene for ultra-high rate and long-life lithium-ion battery anodes
Authors: Xu Chenglong , Liu Zheng , Wei Tong , Sheng Lizhi , Zhang Longhai , Chen Lan , Zhou Qihang , Jiang Zimu , Wang Lin , Fan Zhuangjun 
Published: November 2018

We report a novel strategy for the spatial confinement of mesoporous single-crystalline MnOx nanofibers within a graphene shell (PSCMnOx@G). The PSCMnOx@G exhibits ultra-high rate performance (1072 mA h g−1 at 0.1 A g−1 and 419 mA h g−1 at 10 A g−1) and excellent cycling stability.
Verb Variability and Morphosyntactic Priming With Typically Developing 2- and 3-Year-Olds
Authors: Krok Windi C. , Leonard Laurence B. 
Published: November 2018

Purpose

This study was specifically designed to examine how verb variability and verb overlap in a morphosyntactic priming task affect typically developing children's use and generalization of auxiliary
IS
.

Method

Forty typically developing 2- to 3-year-old native English-speaking children with inconsistent auxiliary
IS
production were primed with 24 present progressive auxiliary
IS
sentences. Half of the children heard auxiliary
IS
primes with 24 unique verbs (high variability). The other half heard auxiliary
IS
primes with only 6 verbs, repeated 4 times each (low variability). In addition, half of the children heard prime–target pairs with overlapping verbs (lexical boost), whereas the other half heard prime–target pairs with nonoverlapping verbs (no lexical boost). To assess use and generalization of the targeted structure to untrained verbs, all children described probe items at baseline and 5 min and 24 hr after the priming task.

Results

Children in the high variability group demonstrated strong priming effects during the task and increased auxiliary
IS
production compared with baseline performance 5 min and 24 hr after the priming task, suggesting learning and generalization of the primed structure. Children in the low variability group showed no significant increases in auxiliary
IS
production and fell significantly below the high variability group in the 24-hr posttest. Verb overlap did not boost priming effects during the priming task or in posttest probes.

Conclusions
Typically developing children do indeed make use of lexical variability in their linguistic input to help them extract and generalize abstract grammatical rules. They can do this quite quickly, with relatively stable, robust learning occurring after a single optimally variable input session. With reduced variability, learning does not occur.
Structural Relationship Between Cognitive Processing and Syntactic Sentence Comprehension in Children With and Without Developmental Language Disorder
Authors: Montgomery James W. , Evans Julia L. , Fargo Jamison D. , Schwartz Sarah , Gillam Ronald B. 
Published: November 2018

Purpose
We assessed the potential direct and indirect (mediated) influences of 4 cognitive mechanisms we believe are theoretically relevant to canonical and noncanonical sentence comprehension of school-age children with and without developmental language disorder (DLD).

Method
One hundred seventeen children with DLD and 117 propensity-matched typically developing (TD) children participated. Comprehension was indexed by children identifying the agent in implausible sentences. Children completed cognitive tasks indexing the latent predictors of fluid reasoning (FLD-R), controlled attention (CATT), complex working memory (cWM), and long-term memory language knowledge (LTM-LK).

Results
Structural equation modeling revealed that the best model fit was an indirect model in which cWM mediated the relationship among FLD-R, CATT, LTM-LK, and sentence comprehension. For TD children, comprehension of both sentence types was indirectly influenced by FLD-R (pattern recognition) and LTM-LK (linguistic chunking). For children with DLD, canonical sentence comprehension was indirectly influenced by LTM-LK and CATT, and noncanonical comprehension was indirectly influenced just by CATT.

Conclusions
cWM mediates sentence comprehension in children with DLD and TD children. For TD children, comprehension occurs automatically through pattern recognition and linguistic chunking. For children with DLD, comprehension is cognitively effortful. Whereas canonical comprehension occurs through chunking, noncanonical comprehension develops on a word-by-word basis.

Supplemental Material

https://doi.org/10.23641/asha.7178939
Dynamic pricing strategy for high occupancy toll lanes based on random forest and nested model
Authors: Zhang Kai , Zhou Zhuping , Qi Yong , Wang Yinhai 
Published: November 2018

To utilise high occupancy vehicle lanes better, high occupancy toll (HOT) lanes are introduced to counter against congestion on the urban highways. In such system, low occupancy vehicles (LOVs) are allowed to pay a toll and access to HOT lanes from general purpose (GP) lanes, so that the toll rate plays a key role in dynamically allocating LOVs over the HOT and GP lanes to improve the overall system performance. First, this study presents an improved random forest (RF) method to build the lane choice behaviour prediction model. Then, by using the 5 min historical traffic and toll data collected from Interstate 405 in the USA, the improved RF combined with cross‐validation and grid search shows the highest accuracy of 88.7%, which is better than other four methods. Furthermore, a novel nested model with two levels is proposed to optimise the toll rates under different real‐time traffic conditions. For the nested model, the experimental results show that the proposed dynamic pricing strategy can decrease the total delay and improve the efficiency significantly. To realise the pricing strategy, some Intelligent Transportation System technologies for HOT lane systems are described in detail and designed as the fundamental of the pricing strategy.
A new family of non‐isolated PWM DC–DC converter with soft switching
Authors: Gerami Elham , Delshad Majid , Amini Mohammad Reza , Yazdani Mohammad Ruhollah 
Published: November 2018

In this study, a new family of soft‐switching pulse‐width‐modulated (PWM) converters with a lossless passive snubber is introduced. The switch is turned on under zero‐current switching and turned off under zero‐voltage switching and all diodes turn on and off under soft switching conditions. The proposed snubber consists of two resonant inductors a resonant capacitor and three diodes which can be applied to all non‐isolated DC–DC converters. A buck converter with the proposed snubber is analysed and to verify theoretical analysis, a 100 W prototype is implemented and efficiency of converter compared with hard switching counterpart. Also to confirm the effectiveness of the proposed snubber to reduce conducted electromagnetic interference (EMI), the conducted EMI of a buck converter with proposed snubber cell is compared with conventional buck converter.