bluuebunny/crossref_metadata_2025_split huggingface dataset:
Phenome-wide burden of copy number variation in UK Biobank
Authors: Aguirre Matthew , Rivas Manuel , Priest James 
Published: February 2019

AbstractCopy number variations (CNV) represent a significant proportion of the genetic differences between individuals and many CNVs associate causally with syndromic disease and clinical outcomes. Here, we characterize the landscape of copy number variation and their phenome-wide effects in a sample of 472,228 array-genotyped individuals from the UK Biobank. In addition to population-level selection effects against genic loci conferring high-mortality, we describe genetic burden from syndromic and previously uncharacterized CNV loci across nearly 2,000 quantitative and dichotomous traits, with separate analyses for common and rare classes of variation. Specifically, we highlight the effects of CNVs at two well-known syndromic loci 16p11.2 and 22q11.2, as well as novel associations at 9p23, in the context of acute coronary artery disease and high body mass index. Our data constitute a deeply contextualized portrait of population-wide burden of copy number variation, as well as a series of known and novel dosage-mediated genic associations across the medical phenome.
Shared and dissociable features of apathy and reward system dysfunction in bipolar I disorder and schizophrenia
Authors: Kirschner Matthias , Cathomas Flurin , Manoliu Andrei , Habermeyer Benedikt , Simon Joe J. , Seifritz Erich , Tobler Philippe N. , Kaiser Stefan 
Published: February 2019

AbstractBackgroundBipolar disorder I (BD-I) is defined by episodes of mania, depression, and euthymic states. These episodes are among other symptoms characterized by altered reward processing and negative symptoms (NS), in particular apathy. However, the neural correlates of these deficits are not well understood.MethodsWe first assessed the severity of negative symptoms in 25 euthymic BD-I patients compared to 25 healthy controls (HC) and 27 patients with schizophrenia (SZ). Then, we investigated ventral and dorsal striatal activation during reward anticipation in a Monetary Incentive Delayed Task and its association with NS.ResultsIn BD-I patients NS were clearly present and the severity of apathy was comparable to SZ patients. Apathy scores in the BD-I group but not in the SZ group correlated with sub-syndromal depression scores. At the neural level, we found significant ventral and dorsal striatal activation in BD-I patients and no group differences with HC or SZ patients. In contrast to patients with SZ, apathy did not correlate with striatal activation during reward anticipation. Explorative whole brain analyses revealed reduced extra-striatal activation in BD-I patients compared to HC and an association between reduced activation of the inferior frontal gyrus and apathy.ConclusionThis study found that in BD-I patients apathy is present to an extent comparable to schizophrenia, but is more strongly related to sub-syndromal depressive symptoms. The findings support the view of different pathophysiological mechanisms underlying apathy in the two disorders and suggest that extra-striatal dysfunction may contribute to impaired reward processing and apathy in BD-I.
Restoration of Direct Corticospinal Communication Across Sites of Spinal Injury
Authors: Jayaprakash Naveen , Nowak David , Eastwood Erik , Krueger Nicholas , Wang Zimei , Blackmore Murray G. 
Published: February 2019

Injury to the spinal cord often disrupts long-distance axon tracts that link the brain and spinal cord, causing permanent disability. Axon regeneration is then prevented by a combination of inhibitory signals that emerge at the injury site and by a low capacity for regeneration within injured neurons. The corticospinal tract (CST) is essential for fine motor control but has proven refractory to many attempted pro-regenerative treatments. Although strategies are emerging to create relay or detour circuits that re-route cortical motor commands through spared circuits, these have only partially met the challenge of restoring motor control. Here, using a murine model of spinal injury, we elevated the intrinsic regenerative ability of CST neurons by supplying a pro-regenerative transcription factor, KLF6, while simultaneously supplying injured CST axons with a growth-permissive graft of neural progenitor cells (NPCs) transplanted into a site of spinal injury. The combined treatment produced robust CST regeneration directly through the grafts and into distal spinal cord. Moreover, selective optogenetic stimulation of regenerated CST axons and single-unit electrophysiology revealed extensive synaptic integration by CST axons with spinal neurons beyond the injury site. Finally, when KLF6 was delivered to injured neurons with a highly effective retrograde vector, combined KLF6/NPC treatment yielded significant improvements in forelimb function. These findings highlight the utility of retrograde gene therapy as a strategy to treat CNS injury and establish conditions that restore functional CST communication across a site of spinal injury.Significance StatementDamage to the spinal cord results in incurable paralysis because axons that carry descending motor commands are unable to regenerate. Here we deployed a two-pronged strategy in a rodent model of spinal injury to promote regeneration by the corticospinal tract, a critical mediator of fine motor control. Delivering pro-regenerative KLF6 to injured neurons while simultaneously transplanting neural progenitor cells to injury sites resulted in robust regeneration directly through sites of spinal injury, accompanied by extensive synapse formation with spinal neurons. In addition, when KLF6 was delivered with improved retrograde gene therapy vectors, the combined treatment significantly improved forelimb function in injured animals. This work represents important progress toward restoring regeneration and motor function after spinal injury.
Prevalence and Risk Factors for Child Labour and Violence against Child in Egypt using Bayesian Geospatial Modelling with Multiple Imputation
Authors: Khatab Khaled , Raheem Maruf A. , Sartorius Benn , Ismail Mubarak 
Published: February 2019

AbstractBackgroundThe incidence of child labour, especially across the developing nations is of global concern. The use of children in employment in developing economies constitutes a major threat to the societies, and concerted efforts are made by the relevant stakeholders towards addressing some of the factors/issues responsible for the menace. Significant risk factors include socio-demographic and economic factors, including poverty, neglect, lack of adequate care, and exposure of children to various grades of violence, parental education status, gender, place of residence, household size, residence’s type or size, wealth index, parental survivorship and household size.ObjectivesThis study, therefore, focuses on identifying socio-demographic/economic and geospatial factors associated with child labour participation.MethodsWe utilised 2014 Demographic and Health Survey (EDHS) from the Ministry health and Population in Egypt, with the record of20, 560never married children aged 5-17years engaging in economic activities, in and out of their home. The data focused on demographic and socio-economic characteristics of household members. Multivariate Bayesian geo-additive models were employed to examine the demographical and socio-economic factors for children working less than 16hrs; between 16 and 45hrs and above 45hrours weekly.ResultsThe results showed that at least 31.6% of the children in the age group from 5-10 were working, 68.5% of children aged 11-17 years engaging in child labour (wage), while 44.7 of the children in the age group from 5-10 were engaged in hazard work. From the multivariate Bayesian geo-additive models, the female children (with male children as reference category) working at least 16hrs (OR: 1.3; with 95% CI: 1.2-1.5) are more likely to be engaged in child labour than those working 16 to 45hours (OR: 1; 95% CI: 0.3-1.5). Children born to women without formal education, under non-hazardous jobs, irrespective of the hours spent at work, were mostly exposed to child labour with following percentages: 52.9%, 56.8%, 62.4%, compared to children of mothers with some levels of education. Finally, children that have experienced psychological aggression and physical punishment are mostly exposed to child labour than those without such experience across the job types and hours spent.ConclusionThis study revealed a significant influence of socio-demographic and economic factors on the children labour and violence against children in Egypt. Poverty neglects, lack of adequate care and exposures of children to various grades of violence are major drivers of child labour across the country. North-eastern region of Egypt has a higher likelihood of child labour than most other regions, while children who live in Delta are more engaged in hazard work.
Recombinant expression of osmotin in barley improves stress resistance and food safety during adverse growing conditions
Authors: Viktorova Jitka , Klcova Barbora , Rehorova Katerina , Vlcko Tomas , Stankova Lucie , Jelenova Nikola , Cejnar Pavel , Kundu Jiban Kumar , Ohnoutkova Ludmila , Macek Tomas 
Published: February 2019

SummaryAlthough many genetic manipulations of crops providing biofortified or safer food have been prepared, the acceptance of biotechnology crops still remains limited. We report on a transgenic barley expressing the multi-functional protein osmotin that improves plant defense under stress conditions. An Agrobacterium–mediated technique was used to transform immature embryos of the spring barley cultivar Golden Promise. Transgenic barley plants of the T0 and T1 generations were evaluated by molecular methods.Transgenic barley tolerance to stress was determined by chlorophyll, total protein, malondialdehyde and ascorbate peroxidase content. Transgenic plants maintained the same level of chlorophyll and protein, which significantly declined in wild-type barley under the same stressful conditions. Salt stress evoked higher ascorbate peroxidase level and correspondingly less malondialdehyde. Methanol extracts of i) Fusarium oxysporum infected or ii) salt-stressed plants, were characterized by their acute toxicity effect on human dermal fibroblasts (HDF). Osmotin expressing barley extracts exhibited a lower cytotoxicity effect of statistical significance than that of wild-type plants under both types of stress tested on human dermal fibroblasts. Extract of Fusarium oxysporum infected transgenic barley was not able to damage DNA in Comet assay, which is in opposite to control plants. Moreover, this particular barley did not affect the local biodiversity interactions, which was tested through monitoring barley natural virus pathogen – host interactions – the BYDV and WDV viruses transmitted to the plants by aphids and leafhoppers. Our findings provide a new perspective which could help to evaluate the safety of products from genetically modified crops.
Wildebeest migration in East Africa: Status, threats and conservation measures
Authors: Msoffe Fortunata U. , Ogutu Joseph O. , Said Mohammed Y. , Kifugo Shem C. , de Leeuw Jan , Van Gardingen Paul , Reid Robin S. , Stabach JA , Boone Randall B. 
Published: February 2019

AbstractMigration of ungulates is under pressure worldwide from range contraction, habitat loss and degradation, anthropogenic barriers and poaching. Here, we synthesize and compare the extent of historical migrations of the white-bearded wildebeest (Connochaetes taurinus) to their contemporary status, in five premier East African ecosystems, namely the Serengeti-Mara, Masai Mara, Athi-Kaputiei, Amboseli and Tarangire-Manyara. The current status, threats to migration, migratory ranges and routes for wildebeest were characterized using colonial-era maps, literature reviews, GIS and aerial survey databases, GPS collared animals and interviews with long-term researchers. Interference with wildebeest migratory routes and dispersal ranges has stopped or severely threatens continuation of the historical migration patterns in all but the Serengeti-Mara ecosystem where the threat level is relatively lower. Wildebeest migration has collapsed in Athi-Kaputiei ecosystem and is facing enormous pressures from land subdivision, settlements and fences in Amboseli and Mara ecosystems and from cultivation in Tarangire-Manyara ecosystem. Land use change, primarily expansion in agriculture, roads, settlements and fencing, increasingly restrict migratory wildebeest from accessing traditional grazing resources in unprotected lands. Privatization of land tenure in group ranches in Kenya and settlement policy (villagization) in Tanzania have accelerated land subdivision, fencing and growth in permanent settlements, leading to loss of key wildebeest habitats including their migratory routes and wet season calving and feeding grounds. These processes, coupled with increasing human population pressures and climatic variability, are exerting tremendous pressures on wildebeest migrations. Urgent conservation interventions are necessary to conserve and protect the critical wildebeest habitats and migration routes in East Africa.
Electrochemical studies on pitting corrosion of tin in sodium borate solutions containing nitrate ions
Authors: El Boraei Nobl Foad , Abd El Rehim Sayed S. , Hassan Hamdy H. 
Published: February 2019

Purpose
The purpose of this paper is to study the electrochemical behavior of Sn electrode in Na2B2O7 solutions in the absence and presence of NaNO3 as a pitting corrosion agent.

Design/methodology/approach
The electrochemical behavior of Sn electrode was studied by using cyclic voltammetry and potentiodynamic polarization measurements and complemented with scanning electron microscopy examinations.

Findings
This paper shows that in the absence of NO3 − ions, the anodic polarization of Sn electrode exhibits active/passive transition. Addition of various concentrations of NO3 − anions to the borate solution enhances active anodic dissolution and tends to break down the passive oxide film at a certain pitting potential. The pitting potential, and hence the pitting corrosion resistance, decreases with increasing NO3-ion concentration and temperature but increases with scan rate and repetitive cycling. Addition of CrO42−, WO42− or MoO42− oxyanions to the borate nitrate solution inhibits the pitting corrosion of Sn.

Originality/value
This is the first study that shows the effect of NO3 − ion as a pitting corrosion agent.
Disturbances rejection based on sliding mode control
Authors: Taimoor Muhammad , Aijun Li , Amin Rooh ul 
Published: February 2019

PurposeThe purpose of this paper aims to investigate an effective algorithm for different types of disturbances rejection. New dynamics are designed based on disturbance. Observer-based sliding mode control (SMC) technique is used for approximation the disturbances as well as to stabilize the system effectively in presence of uncertainties.Design/methodology/approachThis research work investigates the disturbances rejection algorithm for fixed-wing unmanned aerial vehicle. An algorithm based on SMC is introduced for disturbances rejection. Two types of disturbances are considered, the constant disturbance and the sinusoidal disturbance. The comprehensive lateral and longitudinal models of the system are presented. Two types of dynamics, the dynamics without disturbance and the new dynamics with disturbance, are presented. An observer-based algorithm is presented for the estimation of the dynamics with disturbances. Intensive simulations and experiments have been performed; the results not only guarantee the robustness and stability of the system but the effectiveness of the proposed algorithm as well.FindingsIn previous research work, new dynamics based on disturbances rejection are not investigated in detail; in this research work both the lateral and longitudinal dynamics with different disturbances are investigated.Practical implicationsAs the stability is always important for flight, so the algorithm proposed in this research guarantees the robustness and rejection of disturbances, which plays a vital role in practical life for avoiding any kind of damage.Originality/valueIn the previous research work, new dynamics based on disturbances rejection are not investigated in detail; in this research work both the lateral and longitudinal dynamics with different disturbances are investigated. An observer-based SMC not only approximates the different disturbances and also these disturbances are rejected in order to guarantee the effectiveness and robustness.
Competitiveness and production efficiency across OECD countries
Authors: Salas-Velasco Manuel 
Published: February 2019

PurposeThe purpose of this paper was to measure the efficiency of resource utilization across OECD countries aiming to verify that higher levels of competitiveness enhance the production capacity – the maximum possible output of an economy in a given period with the available resources.Design/methodology/approachThe author used a two-stage procedure to first estimate the cross-sectional efficiency scores of 18 OECD economies by data envelopment analysis, and then to assess the impact of contextual variables on efficiency running regressions in the second-stage analysis. In particular, in the second stage, the author examined the effects of competitiveness on the production efficiency of the countries, while controlling for other independent variables.FindingsThe results confirmed that the higher the level of competitiveness, innovation and sophistication factors predominantly, the higher the level of productive efficiency of the countries analyzed.Originality/valueThe paper is novel because it opens the black box of the aggregate process of production of the conversion of resources into a national product. From the social point of view, it is relevant to know if a country could produce more output with the same resources, such as labor and capital and, therefore, could increase per capita income and social welfare.
A two-stage OGI approach to compute the regional competitiveness index
Authors: Charles Vincent , Sei Tomonari 
Published: February 2019

Purpose
Regional competitiveness refers to the capacity of a region to manage its resources and competencies to increase the well-being of its people. Measuring regional competitiveness is, thus, a major consideration for policymakers, businesses and the academic community in their endeavour to improve the same. This paper aims to demonstrate a novel way to calculate the regional competitiveness index under a two-stage objective general index (OGI) framework.

Design/methodology/approach
The authors compute the regional competitiveness index under a two-stage OGI framework. In the first stage, they aggregate the sub-factor level information into a factor level index; in the second stage, they use the factor level index to obtain a regional competitiveness index.

Findings
The authors discuss the properties of the proposed index in detail. They further analyse five periods of regional competitiveness of Peru spanning the period 2008-2015. Among others, the results reveal the existence of the resource curse of the mining regions of Peru.

Practical implications
The paper is a contribution to the practical measurement of competitiveness.

Social implications
The calculation of a regional competitiveness index is vital for improving the competitiveness of the countries and for reducing regional inequalities.

Originality/value
When compared to the existent methods available in the literature, the advantage of the proposed method resides in the fact that the derived index has a positive correlation with the factor-level indices and the factor-level indices have a positive correlation with the sub-factor-level information.
Restructuration of architectural practice in integrated project delivery (IPD): two case studies
Authors: Abdirad Hamid , Dossick Carrie S. 
Published: February 2019

Purpose
The purpose of this paper is to clarify that while integrated project delivery (IPD) methods can be momenta for restructuring architectural practice, they do not predetermine specific patterns of restructuration for the roles, responsibilities and services of architects.

Design/methodology/approach
This paper is based on a multiple case study design; two IPD projects were theoretically sampled and studied. The data collection methods included semi-structured interviews and observations. An inductive data analysis approach was applied to frame the phenomena, conduct cross-case comparisons and develop propositions.

Findings
While IPD implementations set expectations for new structures for practices, it is the project participants’ situated decisions that lead to the restructuration of some dimensions of architectural practice. The dimensions in this study included team formation, design leadership and collaboration and architectural services. IPD project participants locally changed and redefined conventional roles, responsibilities and project artifacts (e.g. drawings and models) that concerned design development and coordination.

Practical implications
IPD context, by itself, does not predetermine a fixed pattern of change in establishing designers’ roles, responsibilities and services because restructuration is highly negotiated amongst the IPD parties and can lead to different responses to this contractual setting. Contracts set expectations for collaborative behavior, but the fulfillment of these expectations is situated and emerging as project participants negotiate to develop practices.

Originality/value
While IPD research and guidelines aim to provide recipes for IPD implementation, this study contributes to the body of knowledge by clarifying that IPD is a context in which unprecedented ways of practice restructuration could emerge.
Computation of flow and heat transfer through channels with periodic dimple/protrusion walls using low-Reynolds number turbulence models
Authors: Fazli Mohammad , Raisee Mehrdad 
Published: February 2019

PurposeThis paper aims to predict turbulent flow and heat transfer through different channels with periodic dimple/protrusion walls. More specifically, the performance of various low-Rek-ε turbulence models in prediction of local heat transfer coefficient is evaluated.Design/methodology/approachThree low-Re numberk-εturbulence models (the zonalk-ε, the lineark-εand the nonlineark-ε) are used. Computations are performed for three geometries, namely, a channel with a single dimpled wall, a channel with double dimpled walls and a channel with a single dimple/protrusion wall. The predictions are obtained using an in house finite volume code.FindingsThe numerical predictions indicate that the nonlineark-εmodel predicts a larger recirculation bubble inside the dimple with stronger impingement and upwash flow than the zonal and lineark-εmodels. The heat transfer results show that the zonalk-εmodel returns weak thermal predictions in all test cases in comparison to other turbulence models. Use of the lineark-εmodel leads to improvement in heat transfer predictions inside the dimples and their back rim. However, the most accurate thermal predictions are obtained via the nonlineark-εmodel. As expected, the replacement of the algebraic length-scale correction term with the differential version improves the heat transfer predictions of both linear and nonlineark-εmodels.Originality/valueThe most reliable turbulence model of the current study (i.e. nonlineark-εmodel) may be used for design and optimization of various thermal systems using dimples for heat transfer enhancement (e.g. heat exchangers and internal cooling system of gas turbine blades).