bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation
Authors: Nakanishi Hiroshi , Kawashima Yoshiyuki , Kurima Kiyoto , Muskett Julie A. , Kim H. Jeffrey , Brewer Carmen C. , Griffith Andrew J. 
Published: January 2018

Objective:
To characterize the audiometric phenotype of autosomal-dominant DFNA34 hearing loss (HL) caused by a missense substitution in the NLRP3 gene. NLRP3 encodes a critical component of the NLRP3 inflammasome that is activated in innate immune responses.

Study Design:
This study was conducted under protocol 01-DC-0229 approved by the NIH Combined Neurosciences IRB. We performed medical and developmental history interviews and physical and audiological examinations of affected individuals with DFNA34 HL caused by the p.Arg918Gln mutation of NLRP3. We retrospectively reviewed audiological reports, when available, from other health care centers.

Setting:
Federal biomedical research facility.

Subjects:
Eleven members of a North American family segregating p.Arg918Gln.

Main Outcome Measures:
Pure-tone thresholds, rates of pure-tone threshold progression, and speech discrimination scores.

Results:
Eight subjects had bilateral sensorineural HL with an onset in the late 2nd to 4th decade of life. Slowly progressive HL initially primarily affected high frequencies. Low and middle frequencies were affected with advancing age, resulting in moderate HL with a downsloping audiometric configuration. The average annual threshold deterioration was 0.9 to 1.5 dB/yr. Speech recognition scores ranging from 60 to 100% were consistent with cochlear, but not retrocochlear, etiology. Three subjects (16, 22, and 32 yr old) had normal hearing thresholds.

Conclusion:
DFNA34 HL has an onset during early adulthood and progresses approximately 1.2 dB/yr.
Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing
Authors: Matreyek Kenneth A. , Starita Lea M. , Stephany Jason J. , Martin Beth , Chiasson Melissa A. , Gray Vanessa E. , Kircher Martin , Khechaduri Arineh , Dines Jennifer N. , Hause Ronald J. , Bhatia Smita , Evans William E. , Relling Mary V. , Yang Wenjian , Shendure Jay , Fowler Douglas M. 
Published: January 2018

ABSTRACTDetermining the pathogenicity of human genetic variants is a critical challenge, and functional assessment is often the only option. Experimentally characterizing millions of possible missense variants in thousands of clinically important genes will likely require generalizable, scalable assays. Here we describe Variant Abundance by Massively Parallel Sequencing (VAMP-seq), which measures the effects of thousands of missense variants of a protein on intracellular abundance in a single experiment. We apply VAMP-seq to quantify the abundance of 7,595 single amino acid variants of two proteins, PTEN and TPMT, in which functional variants are clinically actionable. We identify 1,079 PTEN and 805 TPMT single amino acid variants that result in low protein abundance, and may be pathogenic or alter drug metabolism, respectively. We observe selection for low-abundance PTEN variants in cancer, and our abundance data suggest that a PTEN variant accounting for ~10% of PTEN missense variants in melanomas functions via a dominant negative mechanism. Finally, we demonstrate that VAMP-seq can be applied to other genes, highlighting its potential as a generalizable assay for characterizing missense variants.
Mobile augmented reality applications for construction projects
Authors: Zaher Mohamed , Greenwood David , Marzouk Mohamed 
Published: January 2018

Purpose
The purpose of this paper is to facilitate the process of monitoring construction projects. Classic practice for construction progress tracking relies on paper reports, which entails a serious amount of manual data collection as well as the effort of imagining the actual progress from the paperwork.

Design/methodology/approach
This paper presents a new methodology for monitoring construction progress using smartphones. This is done by proposing a new system consisting of a newly-developed application named “BIM-U” and a mobile augmented reality (AR) channel named “BIM-Phase”. “BIM-U” is an Android application that allows the end-user to update the progress of activities onsite. These data are used to update the project’s 4D model enhanced with different cost parameters such as earned value, actual cost and planned value. The “BIM-Phase” application is a mobile AR channel that is used during construction phase through implementing a 4D “as-planned” phased model integrated with an augmented video showing real or planned progress.

Findings
The results from the project are then analysed and assessed to anticipate the potential of these and similar techniques for tracking time and cost on construction projects.

Originality/value
The proposed system through “BIM-U” and “BIM Phase” exploits the potential of mobile applications and AR in construction through the use of handheld mobile devices to offer new possibilities for measuring and monitoring work progress using building information modelling.
Transnational degree program franchising and the challenge of commercial franchisees
Authors: Juusola Katariina , Rensimer Lee 
Published: January 2018

PurposeThe purpose of this paper is to explore the interrelationship of branding practices and legitimacy-building of commercial degree program franchising within transnational higher education (TNHE). It aims to understand how commercial franchisees’ branding practices employ discursive and symbolic strategies for building legitimacy, and how these practices impact both organizational development and stakeholder perception.Design/methodology/approachThis qualitative study uses document and visual content analysis, supported by discourse analysis, as the methods in analyzing commercial franchisees’ branding practices of their franchised programs. The sample of the study consists of five commercial franchisees offering primarily Western MBA programs in the United Arab Emirates. The data were obtained through franchisees’ websites, marketing materials, student prospectuses, visiting campuses and their marketing events, and through interviews with franchise managers.FindingsThe findings of this study indicate that growing a sustainable brand for a commercial franchisee requires successful building of its legitimacy in the host country. Legitimacy in such arrangement however involves two paradoxes: the “self-promoter’s paradox” where the franchisees often engage in legitimacy-building practices that decrease their legitimacy, and the “legitimacy-borrowing paradox” that happens when the commercial franchisee initially borrows its legitimacy from the franchised program, but simultaneously this borrowing of legitimacy prevents it from becoming a fully legitimate higher education institution.Originality/valueThis study contributes to the research on management of TNHE by exploring the branding practices of franchised programs, which so far has been a neglected area in research. Furthermore, interconnections of legitimacy-building and branding practices are underrepresented within the broader higher education research.
An adapted Porter Diamond Model for the evaluation of transnational education host countries
Authors: Tsiligiris Vangelis 
Published: January 2018

Purpose
The purpose of this paper is to propose an adapted Porter Diamond Model (PDM) that can be used by transnational education (TNE) countries and institutions as an analytical framework for the strategic evaluation of TNE host countries in terms of attractiveness for exporting higher education.

Design/methodology/approach
The study uses a literature review to adapt the PDM in the context of TNE host countries. A pilot study of adapted PDM is conducted for China and Malaysia. Available country data are collected via desk study.

Findings
The pilot application of the adapted PDM revealed no major issues or failings. Only some minor difficulties in the identification of appropriate data which can be resolved with the use of alternative metrics. The results from the analysis of the two countries indicate that China and Malaysia are both suitable TNE host countries for expanding existing and developing new activities. This also indicates that the proposed use of the adapted PDM is suitable to effectively evaluate TNE host countries.

Practical implications
This adapted model can be used by TNE exporting institutions and countries to access the suitability of prospective TNE host countries for education export. Also, it can be used to evaluate the future risks for existing TNE activities. TNE host countries can use the model to strengthen their attractiveness for education import or to plan of becoming education hubs.

Originality/value
Considering the scale and the expected growth of TNE, as well as the lack of strategic analysis tools for TNE; the proposed model provides a valuable practical tool to aid strategic planning at institutional and country level.
Multi-fuel energy source dispatch considering bi-objectives using ant lion algorithm
Authors: Pandiyan Balachandar , Ganesan Sivarajan , Jayakumar Nadanasabapathy , Subramanian Srikrishna 
Published: January 2018

Purpose
The ever-stringent environmental regulations force power producers to produce electricity at the cheapest price and with minimum pollutant emission levels. The electrical power generation from fossil fuel releases several contaminants into the air, and this becomes excrescent if the generating unit is fed by multiple fuel sources (MFSs). Inclusion of this issue in operational tasks is a welcome perspective. This paper aims to develop a multi-objective model comprising total fuel cost and pollutant emission.

Design/methodology/approach
The cost-effective and environmentally responsive power system operations in the presence of MFSs can be recognised as a multi-objective constrained optimisation problem with conflicting operational objectives. The complexity of the problem requires a suitable optimisation tool. Ant lion algorithm (ALA), the most recent nature-inspired algorithm, was used as the main optimisation tool because of its salient characteristics. The fuzzy decision-making mechanism has been integrated to determine the best compromised solution in the multi-objective framework.

Findings
This paper is the first to propose a more precise and practical operational model for studying a multi-fuel power dispatch scenario considering valve-point effects and CO2 emission. The modern meta-heuristic algorithm ALA is applied for the first time to address the economic operation of thermal power systems with multiple fuel options.

Practical implications
Power companies aim to make profit by abiding by the norms of the regulatory board. To achieve economic benefits, the power system must be analysed using an accurate operational model. The proposed model integrates total fuel cost, valve-point loadings and CO2 emission, which are prevailing power system operational objectives. The economic advantages of the operational model can be observed through economic deviation indices, and the performed analysis validates that the developed model corresponds to the actual power operation.

Originality/value
The realistic operational model is proposed by considering total fuel and pollutant emission, and the ALA is applied for the first time to address the proposed multi-objective problem. To validate the effectiveness of ALA, it is implemented in standard test systems with varying generating units (10-100) and the IEEE 30 bus system, and various kinds of power system operations are performed. Moreover, the comparison and performance analysis confirm that the current proposal is found enhanced in terms of solution quality.
The mediation effect of customer satisfaction in the relationship between service quality, service orientation, and marketing mix strategy to customer loyalty
Authors: Solimun Solimun , Fernandes Adji Achmad Rinaldo 
Published: January 2018

Purpose
The purpose of this paper is to investigate the mediation effect of customer satisfaction in the relationship between service quality, service orientation, and marketing mix strategy to customer loyalty, in a study in Telkomsel-Indonesia. The product used in this research will take the telecommunication service product categories with a number of products available in the market. In this research, the telecommunication service products of Telkomsel with various features as the research objects were studied.

Design/methodology/approach
The population of this research is Telkomsel customers who use the products of Halo, As and Simpati, domiciled in Malang, 2016. Since it was impossible to get the exact number of customers, the population in this study is infinite. The study had a sample size of 200 respondents. This research uses the structural equation modeling (SEM) analysis techniques along with AMOS methods.

Findings
The quality of service, service orientation, and strategy marketing mix applied by the company are not all variables can directly affect customer loyalty, but must first going through satisfaction. Which means that companies must first need to understand what the customer needs through variable service quality, service orientation, and marketing mix strategy so that the customers feel loyal when the level of satisfaction is resolved. The service quality provided by the telecommunications industry needs to be improved in order to improve customer satisfaction and loyalty of telecommunications services, especially for Telkomsel in Malang.

Originality/value
Originality for this paper shows: mediation effect (using the Sobel test) customer satisfaction on the effect of service quality, service orientation and marketing mix strategy to customer loyalty; location of the study (no previous research for this relationship): telecommunication services in Malang, Indonesia.
Impact of Trans‐Fats on Heat‐Shock Protein Expression and the Gut Microbiota Profile of Mice
Authors: Carvalho Gessika Cristina Borges Castro , Moura Carolina Soares , Roquetto Aline Rissetti , Barrera‐Arellano Daniel , Yamada Aureo Tatsumi , Santos Andrey dos , Saad Mário José Abdalla , Amaya‐Farfan Jaime 
Published: January 2018

AbstractPartially hydrogenated oils are known to cause metabolic stress and dyslipidemia. This paper explores a new dimension about the interaction between dietary trans‐fats and the defense heat‐shock protein (HSP) system, inflammation, and the gut microbiota of mice consuming a hyperlipidic diet containing partially hydrogenated vegetable oil free of animal fat. Five diet groups were installed: control diet, 2 hyperlipidic‐partially hydrogenated‐oil diets, each containing either casein or whey‐protein hydrolysate (WPH) as protein source, and 2 consuming hyperlipidic‐unhydrogenated‐oil diets containing either WPH or casein as a protein source. The partially hydrogenated oil inhibited c‐Jun NH2‐terminal kinase phosphorylation in the casein diets, but without altering κ‐B kinase. Neither the lipid nor the protein had an influence on the proinflammatory toll‐like receptor 4 (TLR4) pathway, but the combination of the high‐lipid content and WPH impaired glucose tolerance without altering insulin or glucose transporter‐4 translocation. It was remarkable to observe that, contrary to the case of a common high‐fat diet, the lard‐free hyperlipidic diets were hardly able to invert the Bacteroidetes:Firmicutes phylum ratio. Our results suggest that, in the absence of lard, the intake of trans‐fatty acids is less harmful than expected because it does not trigger TLR4‐inflammation or pose great threat to the normal gut microbiota. WPH had the effect of promoting the expression of HSP90, HSP60, and HSP25, but did not prevent dysbiosis, when the diet contained the unhydrogenated oil. The partially hydrogenated oil also seemed to antagonize the ability of WPH to induce the expression of protective HSPs.
Painful procedures can affect post‐natal growth and neurodevelopment in preterm infants
Authors: Coviello Caterina , Popple Martinez Marina , Drovandi Livia , Corsini Iuri , Leonardi Valentina , Lunardi Clara , Antonelli Carla , Pratesi Simone , Dani Carlo 
Published: January 2018

AbstractAimThis Italian study evaluated whether painful procedures during the first four weeks of life were related to subsequent weight gain, head circumference (HC) and neurodevelopmental outcomes in preterm infants,MethodsWe evaluated the number of invasive procedures that infants born at less than 32 weeks of gestational age (GA) underwent in the Neonatal Intensive Care Unit of Careggi Hospital, Florence, from January to December 2015. Weight and HC were recorded at birth, 36 weeks of PMA and six and 12 months of CA. Neurological outcomes were assessed at six and 12 months of CA using the Bayley Scales of Infant and Toddler Development – Third Edition.ResultsWe studied 83 preterm infants with a GA of 28 ± 2 weeks and birth weight of 1098 ± 340 g. A higher number of invasive painful procedures were related to a lower HC standard deviation score at 36 weeks of PMA and six and 12 months of CA and with lower cognitive scores at six months. At 12 months, the relationship only remained significant for infants born at less than 28 weeks (p < 0.001).ConclusionInvasive painful procedures affected regular HC growth and short‐term cognitive scores in preterm infants in the first year of life.
Letter: addition of azathioprine to infliximab maintenance therapy in patients with anti‐drug antibodies and subclinical inflammation
Authors: Primas C. , Reinisch S. , Novacek G. 
Published: January 2018

Linked ContentThis article is linked to Ungar et al and Strik et al papers. To view these articles visit https://doi.org/10.1111/apt.13862 and https://doi.org/10.1111/apt.13994.
Editorial: getting bullish about portal hypertension—chronic treatment with oral taurine? Author's reply
Authors: Ferlitsch A. 
Published: January 2018

Linked ContentThis article is linked to Schwarzer et al and Dunne and Fallowfield papers. To view these articles visit https://doi.org/10.1111/apt.14377 and https://doi.org/10.1111/apt.14344.
Building a new research framework for social evolution: intralocus caste antagonism
Authors: Pennell Tanya M. , Holman Luke , Morrow Edward H. , Field Jeremy 
Published: January 2018

ABSTRACTThe breeding and non‐breeding ‘castes’ of eusocial insects provide a striking example of role‐specific selection, where each caste maximises fitness through different morphological, behavioural and physiological trait values. Typically, queens are long‐lived egg‐layers, while workers are short‐lived, largely sterile foragers. Remarkably, the two castes are nevertheless produced by the same genome. The existence of inter‐caste genetic correlations is a neglected consequence of this shared genome, potentially hindering the evolution of caste dimorphism: alleles that increase the productivity of queens may decrease the productivity of workers and vice versa, such that each caste is prevented from reaching optimal trait values. A likely consequence of this ‘intralocus caste antagonism’ should be the maintenance of genetic variation for fitness and maladaptation within castes (termed ‘caste load’), analogous to the result of intralocus sexual antagonism. The aim of this review is to create a research framework for understanding caste antagonism, drawing in part upon conceptual similarities with sexual antagonism. By reviewing both the social insect and sexual antagonism literature, we highlight the current empirical evidence for caste antagonism, discuss social systems of interest, how antagonism might be resolved, and challenges for future research. We also introduce the idea that sexual and caste antagonism could interact, creating a three‐way antagonism over gene expression. This includes unpacking the implications of haplodiploidy for the outcome of this complex interaction.
Gender, parental education, and experiences of bullying victimization by Australian adolescents with and without a disability
Authors: Kavanagh A. , Priest N. , Emerson E. , Milner A. , King T. 
Published: January 2018

AbstractBackgroundThis study sought to compare the prevalence of bullying victimization between adolescents with and without a disability and between adolescents with and without borderline intellectual functioning or intellectual disability (BIF/ID). We also sought to assess whether the relationships between either disability or BIF/ID and bullying victimization vary by gender and parental education.MethodsThe sample included 3,956 12‐ to 13‐year‐old adolescents who participated in Wave 5 of the Longitudinal Study of Australian Children. Three indicators of bullying were used: physical bullying victimization, social bullying victimization, and “any bullying victimization.” We used Poisson regression to obtain the prevalence risk ratios (PRR) of bullying by disability status adjusting for potential confounders.ResultsIn adjusted models, we found evidence that social bullying victimization was more prevalent among adolescents with a disability than those without a disability (PRR 1.29, 95% confidence interval [CI] 1.06–1.42) and between adolescents with BIF/ID than those without (PRR 1.24, 95% CI 1.07–1.44). Adolescents with BIF/ID were also more likely to experience “any bullying victimization”(PRR 1.10, 95% CI 1.00–1.22). Having a disability and living in a family with low parental education were associated with an elevated risk of social bullying victimization BIF/ID.ConclusionsAdolescents with disabilities and BIF/ID are at elevated risk of social bullying victimization. School‐based antibullying initiatives should concentrate on enhancing the inclusion of adolescents with disabilities, with an emphasis on adolescents from disadvantaged backgrounds.
When the gold standard is not always golden: The value of invasive hemodynamic assessment to overcome the pitfalls of echocardiography in challenging cases of mitral stenosis
Authors: Harper Yenal , Salem Salem A. , Alsafwah Shadwan , Koshy Santhosh , Garg Nadish 
Published: January 2018

AbstractMitral stenosis is a uncommon valvular lesion in the developed countries. Noninvasive evaluation is the first‐line modality for assessment of mitral stenosis, however the noninvasive methods may have limitations in certain cases. Invasive hemodynamics can be used as adjunct tool for assessment of mitral stenosis in such difficult cases. Mitral valve using three‐dimensional planimetry is a promising technique for assessment of mitral stenosis.