bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss
Authors: Li Xinlei , Tan Bo , Wang Xiaoqian , Xu Xiaofei , Wang Cuicui , Zhong Mingjun , Zhao Qiuling , Bao Zhongwei , Peng Weihua , Zhang Lei , Cheng Jing , Lu Yu , Wu Peina , Yuan Huijun 
Published: April 2019

AbstractBackgroundGenetic variants in TMPRSS3 have been causally linked to autosomal recessive nonsyndromic hearing loss (HL) at the DFNB8 and DFNB10 loci. These variants include both single nucleotide and copy number variations (CNVs). In this study, we aim to identify the genetic cause in three Chinese subjects with prelingual profound sensorineural HL.MethodsWe applied targeted genomic enrichment and massively parallel sequencing to screen 110 genes associated with nonsyndromic HL in the three affected subjects. CNVplex® analysis and polymerase chain reaction (PCR) were performed for CNV detection.ResultsWe identified biallelic variations in TMPRSS3 including a novel complex genomic rearrangement and a novel missense mutation, c.551T>C. We have mapped the breakpoints of the genomic rearrangement and showed that it consisted of two deletions and an inversion encompassing exon 3 to exon 9 of TMPRSS3.ConclusionOur study expanded the mutational spectrum of TMPRSS3 to include complex genomic rearrangements. It showcased the importance of an integrative approach to investigate CNVs and their contribution to HL.
Changes in mandibular ramus shape from the Neolithic to modern periods in Korea
Authors: Jung Hyunwoo , Woo Eun Jin 
Published: April 2019

AbstractThe purpose of this study is to assess the mandibular ramus shape using geometric morphometrics, in order to examine secular changes in the shape from the Neolithic to modern period Koreans. Morphological data were collected from 151 adult mandibles representing four temporally different populations. Five landmarks on the mandibular ramus were subjected to a generalized Procrustes analysis. For statistical analysis, canonical variate analysis was conducted using shape coordinates. The Neolithic skeletal group had broader and shorter mandibular ramus shape, whereas the other archaeological and modern skeletal groups showed gracilization in mandibular ramus morphology. Possible causes for the observed secular changes are function‐induced variation and/or morphological integration in skull elements due to brachycephalization. This study can contribute to the discussion on temporal changes in mandibular morphology in relation to masticatory stress and/or morphological integration in skull elements.
Effect of screw configuration on the dispersion and properties of polypropylene/multiwalled carbon nanotube composite
Authors: Ezat Gulstan S. , Kelly Adrian L. , Youseffi Mansour , Coates Phil D. 
Published: April 2019

AbstractThe effect of extruder screw configuration on the dispersion and properties of compatibilised polypropylene (PP)/multi‐walled carbon nanotube (MCNT) composite is investigated. Three principle screw designs with mainly conveying elements (medium intensity), kneading elements (high intensity), and folding elements (chaotic mixing) were used to prepare polypropylene nanocomposites containing 4wt% of maleic anhydride grafted polypropylene (MAH‐g‐PP) compatibilizer and different nanotube loadings. The effect of each screw configuration and nanotube loading on the tensile, rheological, and electrical properties of the nanocomposites were studied. The screw configurations were found to have a strong influence on the electrical resistivity while only slightly affected the tensile properties of the nanocomposites. Scanning electron microscopy examinations showed that the use of screw configuration consisting of kneading elements promoted the dispersion of nanotubes and resulted in a low electrical percolation at 2wt% of MCNT.
Surface reactions of aminosilane precursors during N2 plasma‐assisted atomic layer deposition of SiNx
Authors: Leick Noemi , Huijs Jochem M.M. , Ovanesyan Rafaiel A. , Hausmann Dennis M. , Agarwal Sumit 
Published: April 2019

AbstractThe surface reactions during atomic layer deposition (ALD) of SiNx were studied using in situ attenuated total reflection Fourier transform infrared spectroscopy. Specifically, di(sec‐butylamino)silane (DSBAS) and bis(diethylamino)silane (BDEAS) were used as the silicon precursors with N
2 plasma as the nitrogen source for SiN
x ALD over a temperature range of 225–375°C. The infrared spectra recorded during each ALD half‐cycle provide unambiguous experimental evidence that surface secondary amines (>NH) are the primary reactive sites for chemisorption of DSBAS and BDEAS on a SiN
x surface that was exposed to an N
2 plasma. Based on these observations, we predict that most aminosilane precursors will primarily react with surface >NH groups: This observation is contrary to most atomistic‐level simulations for this reaction that predict a high activation energy barrier.
Heterointerface‐Driven Band Alignment Engineering and its Impact on Macro‐Performance in Semiconductor Multilayer Nanostructures
Authors: Cai Chenyuan , Zhao Yunhao , Xie Shengwen , Zhao Xuebing , Zhang Yu , Xu Yingqiang , Liang Chongyun , Niu Zhichuan , Shi Yi , Li Yuesheng , Che Renchao 
Published: April 2019

AbstractInterfaces in semiconductor heterostructures is of continuously greater significance in the trend of scaling materials down to the atomic limit. Since atoms tend to behave more irregularly around interfaces than in internal materials, accurate energy band alignment becomes a major challenge, which determines the ultimate performance of devices. Therefore, a comprehensive understanding of the interplay between heterointerface, energy band, and macro‐performance is desiderated. Here, such interplay is explored by investigating asymmetric heterointerfaces with identical fabrication parameters in multiple‐quantum‐well lasers. The unexpected asymmetry derives from the atomic discrepancy around heterointerfaces, which ultimately improves the optical property through altered valence band offsets. Strain and charge distribution around heterointerfaces are characterized via geometric phase analysis and in situ bias electron holography, respectively. Combining experiments with theories, arsenic‐enrichment at one of the interfaces is considered the origin of asymmetry. To reveal actual band alignment, valence band model is modified focusing on the transition around heterojunctions. The enhanced photoluminescence intensity reflects the alleviation of hole confinement insufficiency and the enlargement of valence band offset. The results help to advance the understanding of the general problem of interface in nanostructures and provide guidance applicable to various scenarios for micro–macro correlation.
Essential contributions of enhancer genomic regulatory elements to microglial cell identity and functions
Authors: Machado Xavier André , Belhocine Sarah , Gosselin David 
Published: April 2019

AbstractMicroglia are the specialized macrophages of the brain and play essential roles in ensuring its proper functioning. Accumulating evidence suggests that these cells coordinate the inflammatory response that accompanies various clinical brain conditions, including neurodegenerative diseases and psychiatric disorders. Therefore, investigating the functions of these cells and how these are regulated have become important areas of research in neuroscience over the past decade. In this regards, recent efforts to characterize the epigenomic mechanisms underlying microglial gene transcription have provided significant insights into the mechanisms that control the ontogeny and the cellular competences of microglia. In particular, these studies have established that a substantial proportion of the microglial repertoire of promoter‐distal genomic regulatory elements, or enhancers, is relatively specific to these cells compared to other tissue‐resident macrophages. Notably, this specificity is under the regulation of factors present in the brain that modulate activity of target axes of signaling pathways—transcription factors in microglia. Thus, the microglial enhancer repertoire is highly responsive to perturbations in the cerebral tissue microenvironment and this responsiveness has profound implications on the activity of these cells in brain diseases.This article is categorized under:
Physiology > Mammalian Physiology in Health and Disease
Models of Systems Properties and Processes > Mechanistic Models
Biological Mechanisms > Cell Fates
Developmental Biology > Lineages
Problem-solving intervention to prevent depression in non-professional caregivers: a randomized controlled trial with 8 years of follow-up
Authors: López Lara , Smit Filip , Cuijpers Pim , Otero Patricia , Blanco Vanessa , Torres Ángela , Vázquez Fernando L. 
Published: April 2019

AbstractBackgroundStudies of psychological interventions for the prevention of depression have found significant effects in the short-term, but the long-term efficacy has yet to be determined. This study evaluated the 8-year effect of a randomized controlled trial for indicated prevention of depression in female caregivers.MethodsA total of 173 non-professional female caregivers with subclinical depressive symptoms not meeting criteria for a major depressive episode (MDE) were randomized to either a brief problem-solving intervention (n = 89) or usual-care control group (n = 84). Blinded evaluators conducted an assessment at the 8-year follow-up. The primary outcome was Depression Status, defined by diagnoses of MDE since the 1-year follow-up using the Structured Clinical Interview for the Disorders of the DSM-5. The secondary outcome was current Depressive Symptom Severity. Regression analyses were conducted to evaluate the effect of the intervention on the outcomes.ResultsThere were no significant differences in the Depression Status between the problem-solving (30.3%) and control groups (26.2%) (adjusted OR 1.25, 95% CI −0.58 to 2.69). Depressive Symptom Severity, however, was significantly lower in the problem-solving group compared to the control group at this follow-up, amounting to a small effect size of Cohen's d = 0.39 (adjusted B = −3.32, p = 0.018).ConclusionsThis is the first study to assess such a long-term follow-up of intervention of indicated prevention of depression. Results seem to indicate that the protective effect of the intervention became smaller over time during follow-up. Future research should replicate these results.
“What is the efficacy of specialised early intervention in mental health targeting simultaneously adolescents and young adults?’’ An HTA
Authors: Ly Angela , Tremblay Gilbert A. , Beauchamp Sylvie 
Published: April 2019

AbstractObjectivesCurrent service organization is not adapted for youth with or at risk of mental illness. Access, engagement and continuity of care are notorious challenges, particularly during transition from adolescence to adulthood, when youths are transferred to adult services. An HTA was initiated to evaluate the efficacy of programs for which admission is not a function of the legal age of majority.MethodsA systematic review of systematic reviews identified literature published between 2000 and 2017 in 4 databases. To be selected, studies had to focus on specialised mental healthcare early intervention (EI) programs targeting both adolescents and young adults. Contextual and experiential data were collected through interviews with local leading experts. Article selection and quality assessment using ROBIS were conducted with inter rater agreement. The analytical framework developed includes 4 domains: access, engagement and continuity, recovery as well as meaningfulness and acceptability.Results1841 references were identified. Following inclusion/exclusion criteria, 5 studies were selected, 3 of which focused on EI for psyschosis. EI programs alone do not seem to decrease duration of untreated psychosis. EI including a multi focus campaign were more successful. EI does, however, seem to decrease hospitalisation for psychosis. The experience of service users and professionals with inter agency collaboration and person-centred care models were analysed to identify facilitating and inhibiting implementation factors.ConclusionsHealthcare policies need to support further research and development of EI where admission is not a function of the legal age of majority and diagnostic, particularly for youths at risk.
How Do Smart Device Apps for Diabetes Self-Management Correspond with Theoretical Indicators of Empowerment? An Analysis of App Features
Authors: Brew-Sam Nicola , Chib Arul 
Published: April 2019

AbstractObjectivesSmart device apps for diabetes have the potential to support patients in their daily disease management. However, uncertainty exists regarding their suitability for empowering patients to improve self-management behaviors. This paper addresses a general research gap regarding theoretically based examinations of empowerment in diabetes research, by examining how diabetes app features correspond with conceptual indicators of empowerment.MethodsWe examined features of 121 apps for diabetes self-management available in Singapore, with the second highest proportion of diabetes among developed nations, for psychological empowerment (feeling of empowerment) and for behavioral empowerment (social support).ResultsDiabetes apps studied offered a narrow range of features, with limited feature-sets corresponding to indicators of empowerment. Customization as a strategy to improve perceived relevance of diabetes self-management as an indicator of psychological empowerment was especially limited. Moreover, there was a lack of features supporting patients' communication with healthcare professionals and within their private social networks.ConclusionsMobile apps for diabetes self-management failed to provide relevant features for empowering patients. Specific practical recommendations target improved adoption, sustained usage, and effectiveness of diabetes self-management apps.
How Do Pharmaceutical Companies Model Survival of Cancer Patients? A Review of NICE Single Technology Appraisals in 2017
Authors: Gallacher Daniel , Auguste Peter , Connock Martin 
Published: April 2019

AbstractObjectivesBefore an intervention is publicly funded within the United Kingdom, the cost-effectiveness is assessed by the National Institute of Health and Care Excellence (NICE). The efficacy of an intervention across the patients’ lifetime is often influential of the cost-effectiveness analyses, but is associated with large uncertainties. We reviewed committee documents containing company submissions and evidence review group (ERG) reports to establish the methods used when extrapolating survival data, whether these adhered to NICE Technical Support Document (TSD) 14, and how uncertainty was addressed.MethodsA systematic search was completed on the NHS Evidence Search webpage limited to single technology appraisals of cancer interventions published in 2017, with information obtained from the NICE Web site.ResultsTwenty-eight appraisals were identified, covering twenty-two interventions across eighteen diseases. Every economic model used parametric curves to model survival. All submissions used goodness-of-fit statistics and plausibility of extrapolations when selecting a parametric curve. Twenty-five submissions considered alternate parametric curves in scenario analyses. Six submissions reported including the parameters of the survival curves in the probabilistic sensitivity analysis. ERGs agreed with the company's choice of parametric curve in nine appraisals, and agreed with all major survival-related assumptions in two appraisals.ConclusionsTSD 14 on survival extrapolation was followed in all appraisals. Despite this, the choice of parametric curve remains subjective. Recent developments in Bayesian approaches to extrapolation are not implemented. More precise guidance on the selection of curves and modelling of uncertainty may reduce subjectivity, accelerating the appraisal process.
Femmes riches et captateurs d’héritage à Rome durant le Haut-Empire
Authors: Hartmann Elke 
Published: April 2019

RésuméCet article vise à repenser, à la lumière des textes poétiques comme lesÉpigrammesde Martial, la relation que ceux qu’on a nommécaptatores(captateurs d’héritages) entretenaient avec des femmes seules, (souvent) âgées et riches. En rapprochant les dispositions du droit privé en matière successorale et les formes courantes d’acquisition des richesses dans la société romaine des deux premiers siècles de notre ère, d’une part, et les comportements récurrents dans les textes poétiques, d’autre part, on montre que, loin d’être untoposlittéraire, le thème de la captation d’héritage éclaire des rôles sociaux réels liés au genre et à l’âge, et les valeurs morales qui y sont rattachées. Les femmes de l’élite sans mari et sans enfants pouvaient apparaître comme riches, et comme puissantes par leur capacité à établir un réseau de relations personnelles grâce à la transmission légale de leurs biens. La perception chez Martial des modes de communications et d’interactions entre les femmes testatrices et les hommes captateurs d’héritages peut être interprétée comme une réflexion sur les expériences masculines de rabaissement.
L’« Europe française », une domination culturelle ?: Kaunitz et le théâtre français à Vienne au XVIIIesiècle
Authors: Markovits Rahul 
Published: April 2019

RésuméÀ partir de l’action menée par le chancelier Kaunitz en faveur de la présence d’un théâtre français à Vienne, effective de 1752 à 1765 puis de 1768 à 1772, l’article propose de reconsidérer le phénomène de l’« Europe française », entendu comme la domination culturelle de la France sur l’Europe des Lumières. Contre l’idée d’une diffusion par « rayonnement » de la culture française, le choix de l’observatoire viennois permet d’opérer un décentrement, en montrant que c’est depuis Vienne que le mouvement prend son impulsion. Le théâtre français y est soumis à un processus de sélection et d’adaptation en fonction des usages qui lui sont assignés à plusieurs échelles. Au-delà de sa dimension locale, le cas viennois permet de mettre en lumière les mécanismes de la circulation des comédiens français à l’échelle européenne. Alors que les circulations littéraires dites « transnationales » tendent à être décrites essentiellement en termes de flux, l’article propose une approche alternative, I V pragmatique et contextuelle, qui met en lumière les décisions politiques qui les encadrent.
Le marché du crédit privé, la bibliothèque des acquêts et les tâches publiques en Égypte romaine
Authors: Lerouxel François 
Published: April 2019

RésuméCet article est consacré à l’évolution historique du fonctionnement du marché du crédit privé en Égypte romaine entre 30 av. J.-C. et 170 apr. J.-C. environ. Après un examen historiographique de l’utilisation de la notion de marché et de l’économie néo-institutionnaliste en histoire économique de l’Antiquité, il met en évidence l’influence positive du système de rédaction et d’enregistrement des contrats privés sur le fonctionnement du marché du crédit privé et, plus particulièrement, de la bibliothèque des acquêts, une nouvelle institution créée par l’administration romaine entre 68 et 72. Il explique ensuite la création de la bibliothèque par le pouvoir romain en analysant l’interaction entre le marché du crédit privé et le financement des tâches publiques dans le monde romain.
Lettres de controverse: Religion, publication et espace public en France au XVIIesiècle
Authors: Gay Jean-Pascal 
Published: April 2019

RésuméCet article essaie de tisser des liens entre histoire religieuse et histoire des espaces publics. Il propose de relire la signification historique des controverses doctrinales à partir d’une analyse des rapports entre un régime de publicité et un régime d’ecclésialité. Dans le cas des controverses théologiques françaises de l’âge classique, le recours massif à la publication de lettres signale la force des interrogations autour de la légitimité religieuse des pratiques controversiales et apparaît comme une forme de réponse à la manière dont la dynamique controversiale contribue à l’instabilité de la grammaire des actions de publication. Il témoigne d’un refus religieux de la transformation de l’Église en espace public, mais aussi de l’impossibilité de clore les controverses doctrinales en raison de leur dimension ecclésiale. Le travail réciproque entre publicité et ecclésialité apparaît alors comme un objet d’étude pertinent tant pour l’historien du catholicisme moderne que pour celui de l’espace public.
Cutting Through the Noise: Revamping Current Awareness at Irwin Mitchell
Authors: Henderson Jill , Young Louise 
Published: April 2019

AbstractThis article by Jill Henderson and Louise Young is based on their ‘Lightning Talk’ at the 2018 BIALL Conference and describes the recent current awareness project at Irwin Mitchell. It outlines each stage of the project from recognising there was a need to change and choosing the right product to enable that, through to gathering requirements, building searches and launching the new alerts. It goes through each stage in detail and outlines the lessons learnt to help others who may be considering a similar project.
Cambridge Women and the Law
Authors: Faulkner Kate 
Published: April 2019

AbstractIn this article Kate Faulkner writes about the significant moments in the journey of women as they entered into the legal profession taking a perspective from the University of Cambridge. Her article is based around a recent exhibition that was held at the Squire Law Library as part of the Open Cambridge annual event. The aim of the exhibition was to mark the centenary of the Representation of the People Act 1918 and the Sex Disqualification (Removal) Act 1919 which finally allowed women into the professions.
Analysis of Unconfined Flow Induced by Constant Rate Pumping Based on the Lagging Theory
Authors: Lin Ye‐Chen , Huang Ching‐Sheng , Yeh Hund‐Der 
Published: April 2019

AbstractThis study proposes a new mathematical model for describing the drawdown distribution due to a constant rate pumping (CRP) in an unconfined aquifer considering the lagging theory. We introduce two lag times in Darcy's law and in turn in a free surface equation to reflect the effects of the capillary fringe and the capillary suction on the water table motion. The present free surface equation can reduce to those used in previous studies. The Laplace and Weber transform methods are used to derive the semianalytical solution to the model including the effect of wellbore storage. The algorithm of numerical Laplace inversion is applied to obtain the transient solution of the model. We find that the delay index, commonly used in the literature, is equivalent to the lag time associated with the effect of the capillary suction. The sensitivity analysis is performed to assess the drawdown behavior in response to the change in each aquifer parameter. The drawdown distributions predicted by the present solution agree fairly well to the field data taken from CRP tests at Cape Cod, Massachusetts; the Canadian Forces Base Borden, Ontario; and Saint Pardon de Conques, Gironde (France). The lag times determined by both CRP tests seem to decrease linearly with increasing distance on the logarithmic scale from the pumping well. The consideration of two lag times considerably improves the accuracy in estimated specific yields.