bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relationship between obstructive sleep apnea and human leukocyte antigen variants
Authors: Zamani Ayse Gul , Yosunkaya Sebnem , Zamani Adil , Vatansev Hulya , Arslan Ahmet Burak , Yildirim Mahmut Selman 
Published: June 2021

ABSTRACTBackground and aimThe obstructive sleep apnea (OSA) is a common, complex and polygenic disease and it has high risk of serious complications. The human leukocyte antigen (HLA) system plays a crucial role in the regulation of immune function by discriminating self from non-self. In recent years there has been rapid advancement in “Next Generation Sequencing” technology. It enables the detection of HLA alleles in four or even six digits, providing a high level of precision. The aim of the present study was to investigate the genetic variants at HLA-A,-B,-C,-DQB1 and -DRB1 loci in OSA patients and unrelated healthy individuals by targeted NGS in the Turkish population.Materials methodsFifty newly diagnosed patients with OSA and 50 control subjects were enrolled in the study. OSA diagnosis was made by utilizing the apnea-hypopnea index (AHI)≥5 in overnight polysomnography (PSG). Blood samples were obtained in the morning, after PSG. Controls were randomly selected from healthy volunteers who had a low risk for OSA. Genotyping of HLA-A, B, C, DRB1 and DQB1 genes were performed by using next generation sequencing.ResultsHLA-A*02:01, HLA-C*03:03:01, HLA-C*14:03, HLA DRB1*04:05 alleles were found more frequently in OSA patients, but not in the controls (p=0.036, p=0.007, p=0.043 and 0.013, respectively). The allele frequencies of HLA-A*03:01 and HLA-B*35:02 were significantly higher in controls compared to OSA patients (p=0.024 and p=0.043).ConclusionThese results suggest that HLA-A*02:01, HLA-C*03:03:01, HLA-C*14:03, HLA DRB1*04:05 alleles may play a predisposing role in the Turkish population with OSA. In addition, HLA-A*03:01 and HLA-B*35:02 alleles may be protective in this population.
Genome-wide association study of problematic opioid prescription use in 132,113 23andMe research participants of European ancestry
Authors: Sanchez-Roige Sandra , Fontanillas Pierre , Jennings Mariela V , Bianchi Sevim , Huang Yuye , Hatoum Alex , Sealock Julia , Davis Lea K , Elson Sarah L ,   23andMe Research Team, Palmer Abraham A 
Published: June 2021

ABSTRACTThe growing prevalence of opioid use disorder (OUD) constitutes an urgent health crisis. Ample evidence indicates that risk for OUD is heritable. As a surrogate (or proxy) for OUD, we explored the genetic basis of using prescription opioids ‘not as prescribed’. We hypothesized that misuse of opiates might be a heritable risk factor for OUD. To test this hypothesis, we performed a genome-wide association study (GWAS) of problematic opioid use (POU) in 23andMe research participants of European ancestry (N=132,113; 21% cases). We identified two genome-wide significant loci (rs3791033, an intronic variant ofKDM4A; rs640561, an intergenic variant nearLRRIQ3). POU showed a positive genetic correlation with the largest available GWAS of opioid dependence and OUD (rg=0.64-0.80). We also identified numerous additional genetic correlations with POU, including alcohol dependence (rg=0.74), smoking initiation (rg=0.63), pain relief medication intake (rg=0.49), major depressive disorder (rg=0.44), chronic pain (rg=0.42), insomnia (rg=0.39), and loneliness (rg=0.28). Although POU was positively genetically correlated with risk-taking (rg=0.38), conditioning POU on risk-taking did not substantially alter the magnitude or direction of these genetic correlations, suggesting that POU does not simply reflect a genetic tendency towards risky behavior. Lastly, we performed phenome- and lab-wide association analyses, which uncovered additional phenotypes that were associated with POU, including respiratory failure, insomnia, ischemic heart disease, and metabolic and blood-related biomarkers. We conclude that opioid misuse can be measured in population-based cohorts and provides a cost-effective complementary strategy for understanding the genetic basis of OUD.
Interim estimates of increased transmissibility, growth rate, and reproduction number of the Covid-19 B.1.617.2 variant of concern in the United Kingdom
Authors: Dagpunar John 
Published: June 2021

AbstractThis paper relates to data from the Wellcome Sanger Institute, UK, regarding Covid-19 genomic surveillance. We use a simple model to give point estimates of the effective reproduction numbers of the B.1.617.2 and B.1.1.7 lineages in England, from sequenced data as at 15 May 2021. Comparison with the estimated reproduction number of B.1.1.7 enables an estimate of the increased transmissibility of B.1.617.2. We conclude that it is almost certain that there is increased transmissibility that will rapidly lead to B.1.617.2 becoming the prevailing variant in the UK. The derived estimates of increased transmissibility have uncertainty relating to the actual distribution of the generation interval, but they do point, under present conditions of vaccination coverage and NPIs, to exponential growth of positive cases.
Augmentation of task-relevant variability enhances consolidation of motor learning
Authors: Pagano Mattia , Stochino Gaia , Casadio Maura , Ranganathan Rajiv 
Published: June 2021

AbstractMotor memories undergo a period of consolidation before they become resistant to the practice of another task. Although movement variability is important in motor memory consolidation, its role is not fully understood in redundant tasks where variability can exist along two orthogonal subspaces (the ‘task space’ and the ‘null space’) that have different effects on task performance. Here, we used haptic perturbations to augment variability in these different spaces and examined their effect on motor memory consolidation. Participants learned a shuffleboard task, where they held a bimanual manipulandum and made a discrete throwing motion to slide a virtual puck towards a target. The task was redundant because the distance travelled by the puck was determined by the sum of the left and right hand speeds at the time of release. After participants initially practiced the task, we used haptic perturbations to introduce motor variability in the task space or null space, and subsequently examined consolidation of the original task on the next day. We found that regardless of the amplitude, augmenting variability in the task space resulted in significantly better consolidation. This benefit of increasing task space variability was likely due to the fact that it did not disrupt the pre-existing coordination strategy. These results suggest that the effects of variability on motor memory consolidation depend on the interplay between the induced variability and the pre-existing coordination strategy.
TDFragMapper: a visualization tool for evaluating experimental parameters in top-down proteomics
Authors: Dhenin Jonathan , Lima Diogo B , Dupré Mathieu , Chamot-Rooke Julia 
Published: June 2021

AbstractMotivationWe present a new software-tool allowing an easy visualization of fragment ions and thus a rapid evaluation of key experimental parameters on the sequence coverage obtained for the MS/MS analysis of intact proteins. Our tool can deal with multiple fragmentation methods.ResultsWe demonstrate that TDFragMapper can rapidly highlight the experimental fragmentation parameters that are critical to the characterization of intact proteins of various size using top-down proteomics.AvailabilityTDFragMapper, a demonstration video and user tutorial are freely available at https://msbio.pas-teur.fr/tdfragmapper, for academic use; all data are thus available from the ProteomeXchange consortium (identifier PXD024643).Contactdiogobor@gmail.com or julia.chamot-rooke@pasteur.fr
Genetic stability of Aedes aegypti populations following invasion by wMel Wolbachia
Authors: Lau Meng-Jia , Schmidt Tom , Yang Qiong , Chung Jessica , Sankey Lucien , Ross Perran A. , Hoffmann Ary A. 
Published: June 2021

AbstractBackgroundWolbachia wMel is the most used strain in mosquito rear and release strategies that aim to inhibit the transmission of arboviruses such as dengue, Zika, Chikungunya and yellow fever. However, the long-term establishment of wMel in natural populations of the dengue mosquito Aedes aegypti raises concerns that interactions between Wolbachia wMel and Ae. aegypti may lead to changes in the host genome, which could affect useful attributes of Wolbachia that allow it to invade and suppress disease transmission.ResultsWe applied an evolve-and-resequence approach to study genome-wide genetic changes in Ae. aegypti from the Cairns region, Australia, where Wolbachia wMel was first introduced more than 10 years ago. Mosquito samples were collected at three different time points in Gordonvale, Australia, covering the phase before (2010) and after (2013 and 2018) Wolbachia releases. An additional three locations where Wolbachia replacement happened at different times across the last decade were also sampled in 2018. We found that the genomes of mosquito populations mostly remained stable after Wolbachia release, with population differences tending to reflect the geographic location of the populations rather than Wolbachia infection status. However, outlier analysis suggests that Wolbachia may have had an influence on some genes related to immune response, development, recognition and behavior.ConclusionsAedes aegypti populations remained geographically distinct after Wolbachia releases in North Australia despite their Wolbachia infection status. At some specific genomic loci, we found signs of selection associated with Wolbachia, suggesting potential evolutionary impacts can happen in the future and further monitoring is warranted.
Proprioceptive Genes as a Source of Genetic Variation Underlying Robustness for Flight Performance inDrosophila
Authors: Spierer Adam N. , Rand David M. 
Published: June 2021

ABSTRACTA central challenge of quantitative genetics is partitioning phenotypic variation into genetic and non-genetic components. These non-genetic components are usually interpreted as environmental effects; however, variation between genetically identical individuals in a common environment can still exhibit phenotypic variation. A trait’s resistance to variation is called robustness, though the genetics underlying it are poorly understood. Accordingly, we performed an association study on a previously studied, whole organism trait: robustness for flight performance. Using 197 of the Drosophila Genetic Reference Panel (DGRP) lines, we surveyed variation across single nucleotide polymorphisms, whole genes, and epistatic interactions to find genetic modifiers robustness for flight performance. There was an abundance of genes involved in the development of sensory organs and processing of external stimuli, supporting previous work that processing proprioceptive cues is important for affecting variation in flight performance. Additionally, we tested insertional mutants for their effect on robustness using candidate genes found to modify flight performance. These results suggest several genes involved in modulating a trait mean are also important for affecting trait variance, or robustness, as well.Article SummaryWe sought to understand the genetic architecture of robustness (variation in a trait caused by non-genetic factors) for flight performance. We used 197 Drosophila Genetic Reference Panel (DGRP) lines to find significant individual variants and pairs of epistatic interactions, many of which were involved in proprioception. Additionally, we validated significant genes identified from a prior study for the mean of flight performance, showing genes affecting trait means may also affect trait robustness.
Larson and socio-economic closures in public accountancy professionalization
Authors: Lee Thomas A. 
Published: June 2021

PurposeThe first purpose of this study is to respond to Matthews’ (2017) criticisms of Larson's (1977) professional project and accounting historians' past use of Larson (1977) when researching public accountancy professionalization. The second purpose is to use the response to Matthews (2017) as the foundation to construct a model of socio-economic closures of potential use for research and study.Design/methodology/approachIn order to respond to Matthews (2017), the study provides an interpretive review of Larson (1977) and analyses historical professionalization research published in leading accounting journals over three decades. The review and response, together with prior theory contributions, form the foundation for the proposed model of closures.FindingsMatthews’ (2017) criticisms of Larson (1977) and accounting historians' past use of Larson (1977) are, with some exceptions, not well-founded. Larson's (1977) professional project is an ideal model of professionalization and has been used appropriately by accounting historians to introduce and explain rather than a model or test public accountancy professionalization. The analyzed data from research journals are consistent with Larson (1977) in terms of identifiable historical phases of and specific closures actions in the professionalization process.Research limitations/implicationsThe study analyses peer-reviewed studies in selected accounting research journals over a defined period.Practical implicationsThe study provides a nuanced review of Larson (1977), clarifies evidence of the past use of Larson (1977) by accounting historians, challenges criticism of this use, identifies primary research that focuses on socio-economic closures and proposes a model of such closures for future research and study.Originality/valueThe study contains a comprehensive analysis of peer-reviewed research of public accountancy professionalization and proposes a model of closures inductively derived from empirical evidence and prior theoretical contributions.
Defining social value in the public procurement process for works
Authors: Gidigah Brandsford Kwame , Agyekum Kofi , Baiden Bernard K. 
Published: June 2021

PurposeThough the Public Procurement Act of Ghana makes room for specific socio-economic policies (environmental, social, economic and other policies which are intended to promote social and economic impact), there is no explicit definition and provision for social value as an evaluation criterion, culminating in the absence of a definition in the Act. This paper elicits the conception and understanding of social value from stakeholders in the Ghanaian construction industry.Design/methodology/approachThe study adopted a qualitative method that relied on a semi-structured interview of 30 participants purposively drawn from Western, Western North and Central regions of Ghana. An inductive thematic analysis approach, which involved identifying repetitions, exploring similarities and differences, noting linguistic connectors, and a framework were employed to analyse the data.FindingsThe study established no single definition or explanation for social value in the construction industry in Ghana. However, it was revealed from the study that the concept of social value could be defined from the functional perspective of the definer, particularly from the perspective of a Procurement Officer, Works Engineer, and a Quantity Surveyor. A new insight from the study that differs from the body of literature is that participants equated benefits derived from physically constructed projects as social value.Social implicationsThe study has implication for public administration and practice regarding the decision-making process in the construction industry in Ghana. It provides a vital awakening on social value as a criterion in evaluating construction works procurement in Ghana. The ability of participants to equate the benefits derived from executed construction projects as social value creates a new perspective on understanding the meaning of social value in the procurement of works construction.Originality/valueThe study contributes to the state-of-the-art and ongoing discourse on the concept of social value globally. The findings create an important catalyst for social value research in the Ghanaian construction industry.
Students as partners in university innovation and entrepreneurship
Authors: Hall Randolph 
Published: June 2021

PurposeStudents are an essential part of university innovation. Through their training, research and energy, students acquire and transfer knowledge to industry, and they help establish new businesses and start-up companies. This paper investigates how universities might capture the entrepreneurial energies of students toward the goal of university improvement and transformation while also educating students to pursue their aspirations to create new businesses.Design/methodology/approachA framework is presented for integrating “Students as Partners” (SaP) with entrepreneurship training to achieve “inside innovation,” meaning innovation to advance the practices of the university. Students participating in Blackstone Launchpad at three American universities were surveyed as to how they perceive innovation culture and support at their universities.FindingsCommon services (help with business plans, market assessment and entrepreneurial training) had the biggest positive effect on satisfaction with university support. Nevertheless, many students had sought to apply their innovations inside their university and, in so doing, found navigating bureaucracy and knowing “whom to talk to” to be the biggest obstacles. Respondents were least likely to agree with the statement that their institution was willing to accept risks.Research limitations/implicationsSurvey included three universities. A larger sample would be useful for a broader assessment.Practical implicationsPartnered services, technology entrepreneurship, system add-ons and immersion are proposed as four strategies to overcome obstacles to make universities more innovative in their practices.Social implicationsThe paper proposes a culture change toward engaging student entrepreneurs in innovation within universities to improve higher education practices.Originality/valueA framework for how higher education leaders might use the SaP model to capture entrepreneurial energies of students for university improvement and transformation.
Investigation of the effects of geometrical parameters, eccentricity and perforated fins on natural convection heat transfer in a finned horizontal annulus using three dimensional lattice Boltzmann flux solver
Authors: Ashouri Mahyar , Zarei Mohammad Mehdi , Moosavi Ali 
Published: June 2021

Purpose
The purpose of this paper is to investigate the effects of geometrical parameters, eccentricity and perforated fins on natural convection heat transfer in a finned horizontal annulus using three-dimensional lattice Boltzmann flux solver.

Design/methodology/approach
Three-dimensional lattice Boltzmann flux solver is used in the present study for simulating conjugate heat transfer within an annulus. D3Q15 and D3Q7 models are used to solve the fluid flow and temperature field, respectively. The finite volume method is used to discretize mass, momentum and energy equations. The Chapman–Enskog expansion analysis is used to establish the connection between the lattice Boltzmann equation local solution and macroscopic fluxes. To improve the accuracy of the lattice Boltzmann method for curved boundaries, lattice Boltzmann equation local solution at each cell interface is considered to be independent of each other.

Findings
It is found that the maximum heat transfer rate occurs at low fin spacing especially by increasing the fin height and decreasing the internal-cylindrical distance. The effect of inner cylinder eccentricity is not much considerable (up to 5.2% enhancement) while the impact of fin eccentricity is more remarkable. Negative fin eccentricity further enhances the heat transfer rate compared to a positive fin eccentricity and the maximum heat transfer enhancement of 91.7% is obtained. The influence of using perforated fins is more considerable at low fin spacing although some heat transfer enhancements are observed at higher fin spacing.

Originality/value
The originality of this paper is to study three-dimensional natural convection in a finned-horizontal annulus using three-dimensional lattice Boltzmann flux solver, as well as to apply symmetry and periodic boundary conditions and to analyze the effect of eccentric annular fins (for the first time for air) and perforated annular fins (for the first time so far) on the heat transfer rate.
Using Lean Six Sigma in small and medium-sized enterprises for low-cost/high-effect improvement initiatives: a case study
Authors: Panayiotou Nikolaos A. , Stergiou Konstantinos E. , Panagiotou Nikolaos 
Published: June 2021

PurposeThe purpose of this paper is the implementation of Lean Six Sigma (LSS) in a manufacturing small and medium-sized enterprise (SME) in Greece in order to understand the contribution of LSS in its process improvement and to identify the parameters playing a crucial role in LSS adoption by SMEs. The ability to achieve high-effect improvements without cost investment is also examined to cope with low investment margin that is a characteristic of SMEs.Design/methodology/approachThis case study is based on the combination of Define, Measure, Analyze, Improve and Control (DMAIC) phases with the Yin's method for case studies for a complete and efficient implementation and presentation of the project.FindingsThe analysis of this case study revealed that by accomplishing specific critical success factors for the fulfillment of the LSS project, the company attained important benefits by utilizing only the working hours of employees. It was also found that the improvements of LSS projects can be measured using other metrics which can indirectly be translated into monetary terms.Practical implicationsThe paper can be a useful guide of how SMEs can achieve high-impact improvements with low or no investment cost utilizing LSS initiatives in small-scale projects.Originality/valueAccording to the literature, there is a need for more case studies concerning LSS implementation in SMEs. Examples of how low-cost/high-effect improvement initiatives can be implemented have not been adequately presented before. The assessment of the impact of improvement initiatives with non-monetary measures is also innovative.