bluuebunny/crossref_metadata_2025_split huggingface dataset:
Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework
Authors: Grant Andrew , Cushman Brandon , Cavé Hélène , Dillon Mitchell W. , Gelb Bruce D. , Gripp Karen W. , Lee Jennifer A. , Mason-Suares Heather , Rauen Katherine A. , Vincent Lisa M. , Zenker Martin 
Published: May 2018

AbstractThe RASopathies are a complex group of diseases regarding phenotype and genetic etiology. The ClinGen RASopathy Expert Panel assessed published and other publicly available evidence supporting the association of 19 genes with RASopathy conditions. Using the semi-quantitative literature curation method developed by the ClinGen Gene Curation Working Group, evidence for each gene was curated and scored for Noonan syndrome, Costello syndrome, cardiofaciocutaneous (CFC) syndrome, Noonan syndrome with multiple lentigines (NSML), and Noonan-like syndrome with loose anagen hair (NS/LAH).The curated evidence supporting each gene-disease relationship was then discussed and approved by the ClinGen RASopathy Expert Panel. Each association’s strength was classified as Definitive, Strong, Moderate, Limited, Disputed, or No Evidence. Eleven genes were classified as definitively associated with at least one RASopathy condition. Two genes classified as strong for association with at least one RASopathy condition while one gene was moderate and three were limited. The RAS EP also refuted the association of two genes for a RASopathy condition. Overall, our results provide a greater understanding of the different gene-disease relationships within the RASopathies and can help guide and direct clinicians, patients and researchers who are identifying variants in individuals with a suspected RASopathyGRANT NUMBERS:Research reported in this publication was supported by the National Human Genome Research Institute (NHGRI) under award number U41HG006834. MZ received support from German Federal Ministry of Education and Research (BMBF): NSEuroNet (FKZ 01GM1602A), GeNeRARe (FKZ 01GM1519A).
Home to work spillover and turnover intentions
Authors: Sok Jenny , Blomme Robert Jan , De Ruiter Melanie , Tromp Debbie , Lub X.D. 
Published: May 2018

Purpose
This paper aims to investigate the relationship between home-to-work spillover, measured as positive and negative home–work interference (HWI) and turnover intentions, as well as the mediating role of perceptions concerning training and development practices.

Design/methodology/approach
Data were collected among 418 respondents who were working at two business schools. A confirmative structural equation modeling analysis was conducted for the analysis.

Findings
As expected, positive HWI showed negative relationships with turnover intentions, while negative HWI related positively to turnover intentions. Training and development practices mediated the relationship between positive HWI and turnover intentions; the mediation effect was stronger for women than it was for men. Training and development practices did not mediate the relationship between negative HWI and turnover intentions, however.

Practical implications
The outcomes suggest that helping employees to balance their work and home lives can be beneficial for employees, as well as for employers in terms of reducing turnover intentions.

Originality/value
As contributions, additional insight into the relationship between positive and negative non-work factors and turnover intentions by examining the ways in which both positive as well as negative HWI are related to turnover intentions. Furthermore, the research considers the mediating role played by perceptions concerning human resource (HR) practices, and particularly training and development practices as perceived by the employee, in the relationship between positive and negative HWI and turnover intentions.
Investigating social media consumption, sports enthusiasm, and gender on sponsorship outcomes in the context of Rio Olympics
Authors: Hazari Sunil 
Published: May 2018

PurposeUsing the context of Rio Olympic games, the purpose of this paper is to investigate attitude toward sponsorship outcome as it relates to purchase behavior, gender, sponsor patronage, sports enthusiasm, and social media consumption.Design/methodology/approachData were collected using an online survey of 265 participants. Questions regarding demographics, viewing habits, sports participation, enthusiasm, attitude toward Olympic events were included in the survey. The four sub-scales were sponsorship attitude, sponsor patronage, social media consumption, and sports enthusiasm.FindingsThe findings of the study showed that social media consumption is positively related to attitude toward event and sports patronage. There was a significant gender difference on attitude toward event, social media consumption, and sports enthusiasm. Predictors for making a purchase as a result of seeing a social media advertisement were gender, playing competitive sport, and social media consumption.Practical implicationsThis study will add to the body of academic and practitioner research on sponsorship outcomes, and provides an opportunity for marketers to leverage social media networks for sponsorship communication.Originality/valueAs the use of social media networks has increased over the past few years, no previous study has investigated association of sports enthusiasm, gender, or social media consumption toward sponsor patronage which relates to consumers seeking out sponsors and being influenced to make a purchase as a result of marketing communication of sponsors.
Sustainability reporting: an empirical evaluation of emerging and developed economies
Authors: Bhatia Aparna , Tuli Siya 
Published: May 2018

Purpose
This paper aims to investigate and compare the sustainability reporting practices of companies in developing nations (BRIC) with those in the developed economies (the UK and USA) as per GRI framework.

Design/methodology/approach
Content analysis has been applied on a sample of 232 companies listed on the Stock Exchanges of developing and developed countries (Brazil – BOVESPA index, 39 companies; Russia – RTS index, 21 companies; India – SENSEX, 17 companies; China – SSE 50, 19 companies; the USA – NASDAQ 100 and Amex major market index, 58 companies and the UK – FTSE100, 78 companies). It uses descriptive statistics and independent sample t-test to identify significant comparisons.

Findings
The findings of this paper suggest that developing nations are providing more information on sustainability practices as compared to the companies in the developed nations. Overall mean disclosure score of developing countries is 59.04 per cent followed by that of the developed countries at 36.47 per cent. The result of independent sample t-test shows these differences significant at 1 per cent level.

Practical implications
The results of the current paper implicate that the corporate managers of the developing nations should prefer rational and purposive reporting. They should work on the quality of reporting rather than just filling pages because social and environmental issues are more gross in the developing nations as compared to the developed countries.

Originality/value
Developing and developed nations jointly use the scarce resources and provide output to the world, thereby raising sustenance issues. However, not even a single study was found while reviewing the literature that studied and compared the sustainability reporting practices of these countries.
Smart LED high CRI lighting systems
Authors: Grzesiak Wojciech , Guzdek Piotr , Maćków Piotr , Zaraska Krzysztof , Zbieć Michal , Jakubowski Mariusz , Obrębski Dariusz , Boguszewicz Piotr , Solnica Dariusz , Iwanicki Pawel , Linke Sebastian , Mahlkow Adrian 
Published: May 2018

Purpose
The purpose of this paper is to present issues related to the design of a modern lighting system based on LED technology. The developed system provides lighting with a high colour rendering index (up to 98); it also has many innovative functions, which make its implementation bring significant energy savings and increase the comfort of work.

Design/methodology/approach
In contrast to typical solutions, the dynamic synthesis of white light from six component colours was used in the presented project. This process is controlled by a microcontroller, and there is a colour temperature sensor in the feedback loop. The communication between smart luminaires and sensor modules is provided by means of a ZigBee wireless network.

Findings
The correctness of the proposed methodology has been proved by measurements and laboratory tests.

Research limitations/implications
The process of improving the lighting system is continued and significant changes in the spectrum of used sensors are expected.

Practical implications
The proposed system based on mixing light from six components is an innovative solution that besides undoubted advantages entails a more elaborate electronic circuitry. However, good characteristics of the obtained light, as well as the possibility of compensating for changes in colour temperature of natural light and reducing the impact of aging of LEDs, in the authors’ opinion, make the proposed solution find its place on the market.

Originality/value
The proposed solution is original, both in terms of the light mixing technique and advanced functionality offered by the system.
Integrating Point‐of‐care Testing Into a Community Emergency Department: A Mixed‐methods Evaluation
Authors: Pines Jesse M. , Zocchi Mark S. , Carter Caitlin , Marriott Charles Z. , Bernard Matthew , Warner Leah H. 
Published: May 2018

AbstractObjectivePoint‐of‐care testing (POCT) is a commonly used technology that hastens the time to laboratory results in emergency departments (ED). We evaluated an ED‐based POCT program on ED length of stay (LOS) and time to care, coupled with qualitative interviews of local ED stakeholders.MethodsWe conducted a mixed‐methods study (2012–2016) to examine the impact of POCT in a single, community ED. The quantiative analysis involved an observational before–after study comparing time to laboratory test result (POC troponin or POC chemistry) and ED LOS after implementation of POCT, using a propensity‐weighted interrupted time series analysis (ITSA). A complementary qualitative analysis involved five semistructured interviews with staff using grounded theory on the benefits and challenges to ED POCT.ResultsA total of 47,399 ED visits were included in the study (24,705 in the preintervention period and 22,694 in the postintervention period). After POCT implementation, overall laboratory testing increased marginally from 61% to 62%. Central laboratory troponin and chemistry declined by > 50% and was replaced by POCT. Prior to POCT implementation, time to troponin and chemistry had declined steadily due to other improvements in laboratory efficiency. After POCT implementation, there was an immediate 20‐minute further decline (p < 0.001) in both time to troponin and time to chemistry results using the propensity‐weighted comparisons. However, the declining trend observed prior to POCT implementation did not continue at the same rate after implementation. Similarly, prior to POCT implementation, ED LOS declined due to other quality improvements. After POCT implementation, LOS continued declined at a similar rate. Because of this prior trend, the ITSA did not show a significant decline in LOS attributable to POCT. Common benefits of POCT perceived by staff in qualitative interviews included improved quality of care (64%) and reductions in time to test results (44%). Common challenges included concerns over POCT accuracy (32%) and technical barriers (29%).ConclusionIn the study ED, implementation of POCT was associated with a reduction in time to test result for both troponin and chemistry. Local staff felt that faster time to test result improved quality of care; however, concerns were raised with POCT accuracy.
Current prescribing trends of antibiotics by dentists in Australia from 2013 to 2016. Part 1.
Authors: Teoh L , Stewart K , Marino RJ , McCullough MJ 
Published: May 2018

AbstractBackgroundLiterature has shown dentists tend to overprescribe antibiotics and do not always prescribe in accordance with recommended guidelines. Unnecessary prescribing is one major factor that contributes to the development of antibiotic resistance. The aim of the present study was to assess the antibacterial prescribing patterns of dentists in Australia from 2013 to 2016.MethodsData on dental antibacterial prescriptions dispensed under the Pharmaceutical Benefits Scheme (PBS) from 2013 to 2016 was accessed and prescribing trends analysed. The prescribing rates were standardized to the dose and population.ResultsThere was a slight decrease in the dispensed use of most antibacterials from 2013 to 2016, but there was a significant increase in the dispensed use of amoxicillin/clavulanic acid of 11.2%. Amoxicillin was the most commonly dispensed antibiotic, accounting for approximately 65% of all antibacterials from 2013 to 2016, while phenoxymethylpenicillin accounted for only 1.4% of prescriptions in 2016. There were low but significant quantities of dispensed antibiotic prescriptions that do not fit with current guidelines.ConclusionsThe data suggest that dentists in Australia are prescribing some antibiotics inappropriately and there is a preference for moderate‐ to broad‐spectrum agents. The current PBS dental schedule is inconsistent with prescribing guidelines and may contribute to inappropriate prescribing.
‘One size does not fit all’: Perspectives on diversity in community aged care
Authors: Meyer Claudia , Appannah Arti , McMillan Sally , Browning Colette , Ogrin Rajna 
Published: May 2018

ObjectivesTypically, older people are viewed via a single health condition, yet health outcomes are likely impacted by the intersection of many individual characteristics. Promoting inclusive health care is underpinned by reducing bias, respectful communication and supporting individual needs and preferences. This study explores perspectives of community aged care workers on diversity training and implementing training into practice.MethodsNinety community aged care workers were telephone‐interviewed three months after a one‐day diversity training workshop. Interviews were audio‐recorded, transcribed verbatim and analysed thematically.ResultsFive themes emerged: ‘raising awareness’; ‘reserving judgement’; ‘confidence and empowerment to embed diversity into practice’; ‘communicating effectively’; and ‘thinking about change … but’.ConclusionsDiversity concepts were positively received, but applying diversity principles into practice is more difficult. Recommendations to promote inclusive health care included raising awareness of bias, communicating with inclusive language and embedding diversity concepts into community aged care practice by addressing individual, organisational and wider system constraints.
Comparison of transvaginal ultrasound and saline contrast sonohysterography in evaluation of cesarean scar defect: a prospective cohort study
Authors: Antila‐Långsjö Riitta , Mäenpää Johanna U. , Huhtala Heini , Tomás Eija , Staff Synnöve 
Published: May 2018

AbstractIntroductionThe aim of this study was to investigate the prevalence of post‐cesarean isthmocele and to measure agreement between transvaginal ultrasonography and saline contrast sonohysterography in assessment of isthmocele.Material and methodsA prospective observational cohort study was carried out at Tampere University Hospital, Finland. Non‐pregnant women delivered by cesarean section (n = 371) were examined with transvaginal ultrasonography (TVUS) and sonohysterography (SHG) six months after cesarean section. The main outcome measure was the prevalence of isthmocele using TVUS and SHG. Secondary outcome measures were characteristics of isthmocele.ResultsIn all, 371 women were included. The prevalence of isthmocele was 22.4% based on TVUS and 45.6% based on SHG. Sensitivity and specificity for TVUS was 49.1 and 100%, respectively, when compared with SHG. Therefore, half of the defects (50.9%) diagnosed with SHG remained undiagnosed with TVUS. Bland–Altman analysis showed an underestimation of 1.1 mm (range 0.00–7.90) for TVUS compared with SHG, with 95% limits of agreement from −1.9 to 4.1 mm.ConclusionsThis methodological study provides confirmatory data that TVUS and SHG are not in good agreement in the isthmocele diagnostics and the use of only TVUS may lead to an underestimation of the prevalence of isthmocele. Thus, SHG should be considered as a method of choice in diagnostics of isthmocele.
Predicting stress urinary incontinence during pregnancy: combination of pelvic floor ultrasound parameters and clinical factors
Authors: Chen Ling , Luo Dan , Yu Xiajuan , Jin Mei , Cai Wenzhi 
Published: May 2018

AbstractIntroductionThe aim of this study was to develop and validate a predictive tool that combines pelvic floor ultrasound parameters and clinical factors for stress urinary incontinence during pregnancy.Material and methodsA total of 535 women in the first or second trimester of pregnancy were included for an interview and transperineal ultrasound assessment from two hospitals. Imaging data sets were analyzed offline to assess for bladder neck vertical position, urethra angles (α, β and γ angles), hiatal area and bladder neck funneling. All significant continuous variables at univariable analysis were analyzed by receiver operating characteristics. Three multivariable logistic models were built on clinical factors, and combined with ultrasound parameters. The final predictive model with best performance and fewest variables was selected to establish a nomogram. Internal and external validation of the nomogram was performed by both discrimination represented by C‐index and calibration measured by Hosmer–Lemeshow test. A decision curve analysis was conducted to determine the clinical utility of the nomogram.ResultsAfter excluding 14 women with invalid data, 521 women were analyzed. β angle, γ angle and hiatal area had limited predictive value for stress urinary incontinence during pregnancy, with area under curves of 0.558–0.648. The final predictive model included body mass index gain since pregnancy, constipation, previous delivery mode, β angle at rest, and bladder neck funneling. The nomogram based on the final model showed good discrimination with a C‐index of 0.789 and satisfactory calibration (p = 0.828), both of which were supported by external validation. Decision curve analysis showed that the nomogram was clinically useful.ConclusionsThe nomogram incorporating both the pelvic floor ultrasound parameters and clinical factors has been validated to show good discrimination and calibration, and could be an important tool for stress urinary incontinence risk prediction at an early stage of pregnancy.
Questionnaire‐based evaluation of sexual life after laparoscopic surgery for endometriosis: a systematic review of prospective studies
Authors: Franck Cecilie , Poulsen Marlene H. , Karampas Grigorios , Giraldi Annamaria , Rudnicki Martin 
Published: May 2018

AbstractIntroductionEndometriosis is a benign disease that affects women of reproductive age. Laparoscopic excision of endometriotic implants is considered one of the most effective therapeutic options. The disease and its treatment can have a major impact on psychosexual well‐being but this is often overlooked as most studies focus on pain instead of sexuality in a holistic approach. The aim of this study was to review the current literature regarding the effect of laparoscopic surgery for endometriosis on quality of sexual life (QoSL).Material and methodsFollowing the “Preferred Reporting Items for Systematic Reviews and Meta‐Analyses” guidelines we conducted a systematic review that involved searching PubMed and Embase databases for prospective studies evaluating the effect of laparoscopic surgery for endometriosis on QoSL, using validated questionnaires.ResultsOf 357 papers, 17 were selected for full text evaluation. Twelve studies using seven different questionnaires fulfilled the inclusion criteria. All studies reported improvements in QoSL following laparoscopic surgery for endometriosis. A meta‐analysis could not be performed due to substantial heterogeneity among the included studies arising from differences in questionnaires, follow‐up duration, stages of endometriosis, use of hormonal treatment, and missing data.ConclusionsLaparoscopic excision of endometriosis can improve QoSL. However, there is a need for randomized controlled trials based on a new validated questionnaire regarding specifically QoSL in association with endometriosis. As sexual functioning is a complex phenomenon driven by multiple physical, psychological and social factors, QoSL should be holistically evaluated by a team of different healthcare providers, implementing treatment programs that are individualized to each woman.
Predictors of outcome of prematurely born infants with pulmonary interstitial emphysema
Authors: Williams Emma , Dassios Theodore , Clarke Paul , Chowdhury Olie , Greenough Anne 
Published: May 2018

AbstractAimTo determine how oxygenation, ventilation efficiency and tidal volume requirements changed with the development of pulmonary interstitial emphysema (PIE) and whether in affected patients a composite gas exchange index predicted death or bronchopulmonary dysplasia (BPD).MethodsInfants who developed PIE from 2010 to 2016 were identified. The oxygenation index (OI), ventilation efficiency index (VEI), ventilation to perfusion ratio and inspiratory tidal volume were calculated before radiological evidence of PIE (pre‐PIE) and at the worst PIE radiographic appearance (PIE‐worst).ResultsThirty infants, median (IQR) gestational age of 24.6 (24.3–26.7) weeks were assessed. Their age at pre‐PIE was 11 (6–19) days and 23 (13–42) days at PIE‐worst. Compared to pre‐PIE, at PIE‐worst, the OI was higher [14.5 (10.7–19.2) vs 4.8 (3.1–6.1), respectively, p < 0.001], VEI was lower [0.01 (0.01–0.11) vs 0.16 (0.13–0.19), respectively, p < 0.001], ventilation to perfusion ratio was lower [0.15 (0.11–0.40) vs 0.26 (0.20–0.37), p = 0.033] and tidal volume was higher [9.9 (7.2–13.1) vs 6.4 (5.5–6.8) mL/kg, p = 0.007]. An OI >11.4 at PIE‐worst predicted death or BPD with 80% sensitivity and 100% specificity.ConclusionDevelopment of PIE was associated with poorer oxygenation and ventilation efficiency despite increased tidal volumes. The OI at PIE‐worst predicted death or BPD.
Intestinal failure: the evolving demographic and patient outcomes on home parenteral nutrition
Authors: Brown Sarah Kate , Davies Natalie , Smyth Enda , Heather Nicky , Cole Caroline , Keys Simon Charles , Beattie Robert Mark , Batra Akshay 
Published: May 2018

AbstractAimWe performed this study to examine and understand the evolving demographics and changing outcomes of intestinal failure (IF) and its implications for healthcare delivery.MethodWe conducted a retrospective analysis of outcome data of children on home parenteral nutrition (HPN), over a 15‐year period.ResultsA total of 31 patients received HPN: 15 for short bowel syndrome (SBS), eight neuromuscular disease (NMD) and eight for other causes. The HPN prevalence increased from 1.54 per million children in 2000 to 21.5 in 2016. The outcomes over last 5 years were better than those of previous 10 years. The rate of catheter‐related bloodstream infection (CRBSI) had fallen from 4 to 1.3 and IF liver disease (IFALD) from 20% to 7.7%. The aetiology changed over years from SBS being the main cause to NMD contributing 43% to the total in 2016. This was especially relevant as NMD was associated with greater numbers of IFALD (38% vs 6.7%), CRBSI (1.51 vs 0.64/1000 PN days) and mortality.ConclusionThe outcome of long‐term parenteral nutrition (PN) has improved. The increasing number of patients with NMD, coupled with their higher burden of care, results in an increasing health care burden, and the planning of intestinal rehabilitation services needs to reflect this.