bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes
Authors: Anderson David G. , Ferreira‐Correia Aline , Rodrigues Filipe B. , Aziz N. Ahmad , Carr Jonathan , Wild Edward J. , Margolis Russell L. , Krause Amanda 
Published: February 2019

ABSTRACTBackgroundHuntington's disease like 2 (HDL2) is the most common Huntington's disease (HD) phenocopy in many countries and described as the phenocopy with the greatest resemblance to HD. The current clinical description of HDL2 is based on retrospective data. It is unknown whether HDL2 has clinical features that distinguish it from HD.ObjectiveTo describe the HDL2 phenotype and compare it to HD systematically.MethodsA blinded cross‐sectional design was used to compare the HDL2 (n = 15) and HD (n = 13) phenotypes. African ancestry participants underwent assessments, including the Unified Huntington's Disease Rating Scale (UHDRS). The UHDRS motor component was video recorded and evaluated by blinded experts and the inter‐rater reliability calculated.ResultsBoth groups were homogeneous in terms of demographics and disease characteristics. However, HDL2 patients presented three years earlier with more prominent dysarthria and dystonia. Raters could not distinguish between the two diseases with a high level of agreement. No significant differences in the TMS between HDL2 and HD were found. In both disorders, disease duration correlated with motor scores, with the exception of chorea. Psychiatric and cognitive scores were not significantly different between the groups.ConclusionsThe HDL2 phenotype is similar to HD and is initially characterized by dementia, chorea, and oculomotor abnormalities, progressing to a rigid and bradykinetic state, suggesting the UHDRS is useful to monitor disease progression in HDL2. Although HDL2 patients scored higher on some UHDRS domains, this did not differentiate between the two diseases; it may however be emerging evidence of HDL2 having a more severe clinical phenotype.
A clinical and genetic study of early‐onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next‐generation sequencing
Authors: Lin Chin‐Hsien , Chen Pei‐Lung , Tai Chun‐Hwei , Lin Hang‐I , Chen Chih‐Shan , Chen Meng‐Ling , Wu Ruey‐Meei 
Published: February 2019

AbstractBackgroundRecent genetic progress has allowed for the molecular diagnosis of Parkinson's disease. However, genetic causes of PD vary widely in different ethnicities. Mutational frequencies and clinical phenotypes of genes associated with PD in Asian populations are largely unknown. The objective of this study was to identify the mutational frequencies and clinical spectrums of multiple PD‐causative genes in a Taiwanese PD cohort.MethodsA total of 571 participants including 324 patients with early‐onset parkinsonism (onset age, <50 years) and 247 parkinsonism pedigrees were recruited at a tertiary referral center in Taiwan from 2002 to 2017. Genetic causes were identified by an integrated approach including gene dosage analysis, a targeted next‐generation sequencing panel containing 40 known PD‐causative genes, repeat‐primed polymerase chain reaction, and whole‐exome sequencing analysis.ResultsThirty of the 324 patients with early‐onset parkinsonism (9.3%) were found to carry mutations in Parkin, PINK1, or PLA2G6 or had increased trinucleotide repeats in SCA8. Twenty‐nine of 109 probands with autosomal‐recessive inheritance of parkinsonism (26.6%) were found to carry mutations in Parkin, PINK1, GBA, or HTRA2. The genetic causes for the 138 probands with an autosomal‐dominant inheritance pattern of parkinsonism were more heterogeneous. Seventeen probands (12.3%) carried pathogenic mutations in LRRK2, VPS35, MAPT, GBA, DNAJC13, C9orf72, SCA3, or SCA17. A novel missense mutation in the UQCRC1 gene was found in a family with autosomal‐dominant inheritance parkinsonism via whole‐exome sequencing analysis.ConclusionsOur findings provide a better understanding of the genetic architecture of PD in eastern Asia and broaden the clinical spectrum of PD‐causing mutations. © 2019 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.
Sensitivity and specificity of different hand positions to assess upper limb rest tremor
Authors: Wilken Miguel , Bruno Verónica , Rossi Malco , Ameghino Lucía , Deuschl Günther , Merello Marcelo 
Published: February 2019

AbstractBackgroundHand position for rest tremor evaluation in PD is not standardized. We evaluated the sensitivity and specificity of different hand positions commonly used to evaluate rest tremor.MethodsTwenty patients with PD and rest tremor were included as cases and 20 patients with essential tremor without rest tremor as controls. Video and accelerometric recordings were conducted in semiprone, completely prone, and with hands hanging down from armrest positions. Three movement disorder specialists rated tremor in each different position using Movement Disorder Society UPDRS items 3.17 and 3.18.ResultsHands hanging showed the highest amplitude (P = 0.004) and constancy (P = 0.015) scores. Sensitivity and specificity analysis for each position showed the following sensitivity/specificity results: semiprone, 95%/80%; completely prone, 85%/98.33%; and hands hanging, 96.66%/63.33%, respectively.ConclusionsThe hands‐hanging position was shown to be the most suitable for evaluating rest tremor amplitude in PD, whereas the completely prone position proved to be more specific to detect rest tremor. The preferred hand position would depend on the purpose of the examination. © 2019 International Parkinson and Movement Disorder Society
Optimization method of implantable receiver for magnetic resonant wireless power transfer between wearable on‐body and implantable in‐body
Authors: Kang Seok Hyon , Jung Chang Won 
Published: February 2019

AbstractIn this paper, optimization methods of implantable receiver for wireless power transfer are studied in order to increase transfer efficiency between resonators positioned on and in the human body. The spiral coil‐resonators of magnetic resonant wireless power transfer (MR‐WPT) are designed and fabricated on a wearable textile substrate, which covers the human body (on‐body) as the transmitter (Tx) and on the acrylic substrate inside the human body (in‐body) as the receiver (Rx). The experiment showed that when the Rx resonator was inserted into a muscle‐mimicking liquid (MML), the transfer efficiency of on/in‐body system decreased significantly. This decrease attributed to the mismatch of the resonant frequency between the Tx resonator in the air and the Rx resonator in the MML. To mitigate this effect, three approaches, which demonstrated the recovery of the transfer efficiency, were investigated using either a selected optimal capacitor or an air‐pocket, and additional approach using pattern designed in the MML.
A generic and efficient Taylor series–based continuation method using a quadratic recast of smooth nonlinear systems
Authors: Guillot Louis , Cochelin Bruno , Vergez Christophe 
Published: February 2019

SummaryThis paper is concerned with a Taylor series–based continuation algorithm, the so‐called Asymptotic Numerical Method (ANM). It describes a generic continuation procedure to apply the ANM principle at best, in other words, that presents a high level of genericity without paying the price of this genericity by low computing performances. The way to quadratically recast a system of equation is now part of the method itself, and the way to handle elementary transcendental function is detailed with great attention. A sparse tensorial formalism is introduced for the internal representation of the system, which, when combined with a block condensation technique, provides a good computational efficiency of the ANM. Three examples are developed to show the performance and the versatility of the implementation of the continuation tool. Its robustness and its accuracy are explored. Finally, the potentiality of this method for complex nonlinear finite element analysis is enlightened by treating 2D elasticity problems with geometrical nonlinearities.
Collaboration and Satisfaction About Care Decisions in Team questionnaire—Psychometric testing of the Norwegian version, and hospital healthcare personnel perceptions across hospital units
Authors: Aaberg Oddveig Reiersdal , Hall‐Lord Marie Louise , Husebø Sissel Iren Eikeland , Ballangrud Randi 
Published: February 2019

AbstractAimTo translate “The Collaboration and Satisfaction About Care Decisions in Team” questionnaire (CSACD‐T) into Norwegian and test it for psychometric properties. The further aim was to describe and compare healthcare personnel's collaboration and satisfaction about team decision‐making (TDM) across hospital units.DesignA cross‐sectional study.MethodsThe questionnaire was translated into Norwegian. A total of 247 healthcare personnel at two hospitals responded to the questionnaire. An explorative factor analysis was performed to test the factor structure of the questionnaire, while a Cronbach's alpha analysis was used to test for internal consistency. A one‐way ANOVA analysis and a Kruskal–Wallis test were applied to test for differences between hospital units.ResultsThe results demonstrate that the Norwegian version of the CSACD‐T has promising psychometric properties regarding construct validity and internal consistency. The mean score of the CSACD‐T was significantly higher in the maternity ward group than in the emergency room group.
Development of an activation tagging system for maize
Authors: Davies John P. , Reddy Vaka S. , Liu Xing L. , Reddy Avutu S. , Ainley William Michael , Folkerts Otto , Marri Pradeep , Jiang Ke , Wagner Douglas Ry 
Published: February 2019

AbstractActivation Tagging, distributing transcriptional enhancers throughout the genome to induce transcription of nearby genes, is a powerful tool for discovering the function of genes in plants. We have developed a transposable element system to distribute a novel activation tagging element throughout the genome of maize. The transposon system is built from the Enhancer/Suppressor (En/Spm) transposon system and uses an engineered seed color marker to show when the transposon excises. Both somatic and germinal excision events can be detected by the seed color. The activation tagging element is in a Spm‐derived non‐autonomous transposon and contains four copies of the Sugarcane Bacilliform Virus‐enhancer (SCBV‐enhancer) and the AAD1 selectable marker. We have demonstrated that the transposon can give rise to germinal excision events that can re‐integrate into non‐linked genomic locations. The transposon has remained active for three generations and events displaying high rates of germinal excision in the T2 generation have been identified. This system can generate large numbers of activation tagged maize lines that can be screened for agriculturally relevant phenotypes.
Detection and Structural Characterization of Ether Glycerophosphoethanolamine from Cortical Lysosomes Following Traumatic Brain Injury Using UPLC‐HDMSE
Authors: Jones Jace W. , Sarkar Chinmoy , Lipinski Marta M. , Kane Maureen A. 
Published: February 2019

AbstractThe use of ultra performance liquid chromatography coupled to data independent tandem mass spectrometry with traveling wave ion mobility for detection and structural identification of ether‐linked glycerophosphoethanolamine is described. The experimental design generates 4D data (chromatographic retention time, precursor accurate mass, drift time with associated calculated collisional cross‐section, and time‐aligned accurate mass diagnostic product ions) for each ionization mode. Confident structure identification depends on satisfying 4D data confirmation in both positive and negative ion mode. Using this methodology, a number of ether‐linked glycerophosphoethanolamine lipids are structurally elucidated from mouse brain lysosomes. It is further determined that several ether‐linked glycerophosphoethanolamine structures are differentially abundant between lysosomes isolated from mouse cortex following traumatic brain injury as compared to that of sham animals. The combined effort of aligning multi‐dimensional mass spectrometry data with a well‐defined traumatic brain injury model lays the foundation for gaining mechanistic insight in the role lysosomal membrane damage plays in neuronal cell death following brain injury.
The Case for Proteomics and Phospho‐Proteomics in Personalized Cancer Medicine
Authors: Doll Sophia , Gnad Florian , Mann Matthias 
Published: February 2019

AbstractThe concept of personalized medicine is predominantly been pursued through genomic and transcriptomic technologies, leading to the identification of multiple mutations in a large variety of cancers. However, it has proven challenging to distinguish driver and passenger mutations and to deal with tumor heterogeneity and resistant clonal populations. More generally, these heterogeneous mutation patterns do not in themselves predict the tumor phenotype. Analysis of the expressed proteins in a tumor and their modification states reveals if and how these mutations are translated to the functional level. It is already known that proteomic changes including posttranslational modifications are crucial drivers of oncogenesis, but proteomics technology has only recently become comparable in depth and accuracy to RNAseq. These advances also allow the rapid and highly sensitive analysis of formalin‐fixed and paraffin‐embedded biobank tissues, on both the proteome and phosphoproteome levels. In this perspective, pioneering mass spectrometry‐based proteomic studies are highlighted that pave the way toward clinical implementation. It is argued that proteomics and phosphoproteomics could provide the missing link to make omics analysis actionable in the clinic.
Effect of aluminum vacancies on the H2O2 or H2O interaction with a gamma‐AlOOH surface. A solid‐state DFT study
Authors: Medvedev Alexander G. , Mikhaylov Alexey A. , Chernyshov Ivan Yu. , Vener Mikhail V. , Lev Ovadia , Prikhodchenko Petr V. 
Published: February 2019

AbstractThe adsorption of a single H2O2 or H2O molecule on a family of periodic slab models of γ‐AlOOH is studied by solid‐state DFT. The single H2O2 or Н2О molecule interacts with the perfect (010) slab by intermolecular hydrogen bonds (H‐bonds). In the models of γ‐AlOOH with oxygen and aluminum vacancies, H2O2 or Н2О also forms covalent O∙∙∙Al bonds. The energies of covalent O∙∙∙Al and H‐bonds are estimated by a combined approach based on simultaneous consideration of the total binding energies with BSSE correction and empirical schemes of the Н‐bond energy evaluation. The O∙∙∙Al bond energy ranges from ~75 to ~156 kJ mol−1. The total energy of H‐bond interactions in the case of H2O2 exceeds that of Н2О by ~30 kJ mol−1 for all considered slab models. In contrast to Н2О, a H2O2 molecule always forms two H‐bonds as the proton donor. The energy of these bonds noticeably increase on defect γ‐AlOOH surfaces in comparison with the perfect slab due to formation of short (strong) H‐bonds by adsorbed H2O2.
Supercharging and multiple reaction monitoring of high‐molecular‐weight intact proteins using triple quadrupole mass spectrometry
Authors: Khanal Durga D. , Baghdady Yehia Z. , Figard Benjamin J. , Schug Kevin A. 
Published: February 2019

RationaleDifferent supercharging agents were tested to study their effect on the intensity and charge state distributions of high‐molecular‐weight intact proteins. The goal of this work was to increase chargeability and ionization efficiency for proteins ranging from 66 to 150 kDa, to enable subsequent optimization of multiple reaction monitoring (MRM) mode transitions with a triple quadrupole mass spectrometer for potential top‐down quantitative analysis.MethodsSupercharging agents, such as meta‐nitrobenzyl alcohol (m‐NBA), dimethylsulfoxide, trifluoroethanol (TFE), and sulfolane were tested in different concentrations in 50/50 acetonitrile/water with 0.5% formic acid to examine the electrospray ionization response for three model proteins: bovine serum albumin (66 kDa), holo‐transferrin (78 kDa), and immunoglobulin G (150 kDa). The settings of ionization source temperature and mobile phase flow rate were also examined. MRM transitions were developed for a wide range of precursor ions for each protein, and limits of detection were determined for the proteins in the presence of favorable additive combinations.ResultsFor most of the proteins, m‐NBA (1%) and TFE (5%) worked most effectively, both to shift the charge state and increase intensity. This is the first report of the use of TFE as an effective agent for both increasing protein chargeability and ionization response. TFE increased ionization efficiency between 3‐ and 14‐fold for the model proteins studied. Increases in both source temperature and flow rate reduced the magnitude of the average charge state observed. The MRM transitions of six to eight different precursor ions of the proteins were optimized and limits of detection in the nanogram quantity on column were determined.ConclusionsThe feasibility for top‐down quantitative analysis of high‐molecular‐weight proteins with a triple quadrupole mass spectrometer was demonstrated. Further, additives such as TFE can be highly beneficial for increased chargeability and response of the proteins.
Impacts of water resource development on hydrological connectivity of different floodplain habitats in a highly variable system
Authors: Higgisson William , Higgisson Brian , Powell Megan , Driver Patrick , Dyer Fiona 
Published: February 2019

AbstractFloodplains and their associated wetlands are important features of semiarid and arid landscapes, providing habitat and refugia for native species as well as contributing to human needs for freshwater. Globally, floodplain habitats are some of the most modified ecological communities because of water resource development and land‐use changes. However, the hydrological changes that have occurred in highly variable semiarid and arid systems are rarely quantified in a way that helps us understand the consequences for different floodplain habitat types. This study investigated changes in floodplain‐river connectivity that have occurred because of water resource development on four floodplain habitat types in the Lachlan River Catchment, Australia: (a) temporary floodplain lakes, (b) intermittent river red gum (Eucalyptus camaldulensis) swamps, (c) intermittent black box (Eucalyptus largiflorens) swamps, and (d) terminal wetlands (wetlands along distributary creeks). Changes to floodplain‐river connectivity characteristics were calculated using their commence to fill thresholds and flow scenarios derived from a river hydrology model, enabling comparison of long‐term data sets (120 years) encompassing a range of climate conditions. Connection regime metrics have changed significantly in all floodplain habitats except intermittent black box swamps. Temporary floodplain lakes have experienced the greatest reduction in number of connection events (60% reduction), followed by intermittent river red gum swamps (55% reduction). Intermittent black box swamps and terminal wetlands have experienced the least change in number of connection events (35% reduction). The nature of the change in connection suggests a change in vegetation communities will occur in response to long‐term hydrological change.
Inclusive development in environmental sustainability in sub‐Saharan Africa: Insights from governance mechanisms
Authors: Asongu Simplice A. , Odhiambo Nicholas M. 
Published: February 2019

AbstractThis research examines the relevance of inclusive development in modulating the role of governance on environmental degradation. The study focuses on 44 countries in sub‐Saharan Africa for the period 2000–2012. The generalised method of moments is employed as the empirical strategy, and CO2 emissions per capita is used to measure environmental pollution. Bundled and unbundled governance dynamics are employed, notably political governance (consisting of political stability/no violence and “voice and accountability”), economic governance (encompassing government effectiveness and regulation quality), institutional governance (entailing corruption‐control and the rule of law), and general governance (a composite measure of political governance, economic governance, and institutional governance). The following main findings are established. First, the underlying net effect in the moderating role of inclusive development in the governance‐CO2 emissions nexus is not significant in regressions pertaining to political governance and economic governance. Second, there are positive net effects from the relevance of inclusive development in modulating the effects of regulation quality, economic governance, and general governance on CO2 emissions. The significant and insignificant effects are elucidated. Policy implications are discussed.
Engineering Valley Polarization of Monolayer WS2: A Physical Doping Approach
Authors: Feng Shun , Cong Chunxiao , Konabe Satoru , Zhang Jing , Shang Jingzhi , Chen Yu , Zou Chenji , Cao Bingchen , Wu Lishu , Peimyoo Namphung , Zhang Baile , Yu Ting 
Published: February 2019

AbstractThe emerging field of valleytronics has boosted intensive interests in investigating and controlling valley polarized light emission of monolayer transition metal dichalcogenides (1L TMDs). However, so far, the effective control of valley polarization degree in monolayer TMDs semiconductors is mostly achieved at liquid helium cryogenic temperature (4.2 K), with the requirements of high magnetic field and on‐resonance laser, which are of high cost and unwelcome for applications. To overcome this obstacle, it is depicted that by electrostatic and optical doping, even at temperatures far above liquid helium cryogenic temperature (80 K) and under off‐resonance laser excitation, a competitive valley polarization degree of monolayer WS2 can be achieved (more than threefold enhancement). The enhanced polarization is understood by a general doping dependent valley relaxation mechanism, which agrees well with the unified theory of carrier screening effects on intervalley scattering process. These results demonstrate that the tunability corresponds to an effective magnet field of ≈10 T at 4.2 K. This work not only serves as a reference to future valleytronic studies based on monolayer TMDs with various external or native carrier densities, but also provides an alternative approach toward enhanced polarization degree, which denotes an essential step toward practical valleytronic applications.