bluuebunny/crossref_metadata_2025_split huggingface dataset:
Tumor PIK3CA Genotype and Prognosis in Early-Stage Breast Cancer: A Pooled Analysis of Individual Patient Data
Authors: Zardavas Dimitrios , te Marvelde Luc , Milne Roger L. , Fumagalli Debora , Fountzilas George , Kotoula Vassiliki , Razis Evangelia , Papaxoinis George , Joensuu Heikki , Moynahan Mary Ellen , Hennessy Bryan T. , Bieche Ivan , Saal Lao H. , Stal Olle , Iacopetta Barry , Jensen Jeanette Dupont , O’Toole Sandra , Lopez-Knowles Elena , Barbaraeschi Mattia , Noguchi Shinzaburo , Azim Hatem A. , Lerma Enrique , Bachelot Thomas , Wang Qing , Perez-Tenorio Gizeh , can de Velde Cornelis J.H. , Rea Daniel W. , Sabine Vicky , Bartlett John M.S. , Sotiriou Christos , Michiels Stefan , Loi Sherene 
Published: February 2018

Purpose Phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha ( PIK3CA) mutations are frequently observed in primary breast cancer. We evaluated their prognostic relevance by performing a pooled analysis of individual patient data. Patients and Methods Associations between PIK3CA status and clinicopathologic characteristics were tested by applying Cox regression models adjusted for age, tumor size, nodes, grade, estrogen receptor (ER) status, human epidermal growth factor receptor 2 (HER2) status, treatment, and study. Invasive disease-free survival (IDFS) was the primary end point; distant disease-free survival (DDFS) and overall survival (OS) were also assessed, overall and by breast cancer subtypes. Results Data from 10,319 patients from 19 studies were included (median OS follow-up, 6.9 years); 1,787 patients (17%) received chemotherapy, 4,036 (39%) received endocrine monotherapy, 3,583 (35%) received both, and 913 (9%) received none or their treatment was unknown. PIK3CA mutations occurred in 32% of patients, with significant associations with ER positivity, increasing age, lower grade, and smaller size (all P < .001). Prevalence of PIK3CA mutations was 18%, 22%, and 37% in the ER-negative/HER2-negative, HER2-positive, and ER-positive/HER2-negative subtypes, respectively. In univariable analysis, PIK3CA mutations were associated with better IDFS (HR, 0.77; 95% CI, 0.71 to 0.84; P < .001), with evidence for a stronger effect in the first years of follow-up (0 to 5 years: HR, 0.73; 95% CI, 0.66 to 0.81; P < .001; 5 to 10 years: HR, 0.82; 95% CI, 0.68 to 0.99; P = .037); > 10 years: (HR, 1.15; 95% CI, 0.84 to 1.58; P = .38; P heterogeneity = .02). In multivariable analysis, PIK3CA genotype remained significant for improved IDFS ( P = .043), but not for the DDFS and OS end points. Conclusion In this large pooled analysis, PIK3CA mutations were significantly associated with a better IDFS, DDFS, and OS, but had a lesser prognostic effect after adjustment for other prognostic factors.
A Common DIO2 Polymorphism and Alzheimer Disease Dementia in African and European Americans
Authors: McAninch Elizabeth A , Rajan Kumar B , Evans Denis A , Jo Sungro , Chaker Layal , Peeters Robin P , Bennett David A , Mash Deborah C , Bianco Antonio C 
Published: February 2018

Abstract

Context
A common single nucleotide polymorphism in DIO2, Thr92AlaD2, has been associated with a transcriptome typically found in neurodegenerative diseases in postmortem human brain tissue.

Objective
To determine whether Thr92AlaD2 is associated with incident Alzheimer disease (AD).

Design
Population-based study; human brain tissue microarray.

Setting
Community-based cohorts from Chicago and northeastern Illinois and religious clergymen from across the United States constituted the primary population. A representative sample of the U.S. population was used for secondary analyses.

Participants
3054 African Americans (AAs) and 9304 European Americans (EAs).

Main Outcome Measure
Incident AD.

Results
In the primary population, AAs with Thr92AlaD2 had 1.3 times [95% confidence interval (CI), 1.02 to 1.68; P = 0.048] greater odds of developing AD. AAs from a second population with Thr92AlaD2 showed a trend toward increased odds of dementia (odds ratio, 1.33; 95% CI, 0.99 to 1.78; P = 0.06) and 1.35 times greater odds of developing cognitive impairment not demented (CIND; 95% CI, 1.09 to 1.67; P = 0.006). Meta-analysis showed that AAs with Thr92AlaD2 had 1.3 times increased odds of developing AD/dementia (95% CI, 1.07 to 1.58; P = 0.008). In EAs, no association was found between Thr92AlaD2 and AD, dementia, or CIND. Microarray of AA brain tissue identified transcriptional patterns linked to AD pathogenesis.

Conclusions
Thr92AlaD2 was associated with molecular markers known to underlie AD pathogenesis in AAs, translating to an observed phenotype of increased odds of developing AD/dementia in AAs in these populations. Thr92AlaD2 might represent one factor contributing to racial discrepancies in incident AD.
The age of heterozygous telomerase mutant parents influences the adult phenotype of their offspring irrespective of genotype in zebrafish
Authors: Scahill Catherine M. , Digby Zsofia , Sealy Ian M. , White Richard J. , Wali Neha , Collins John E. , Stemple Derek L. , Busch-Nentwich Elisabeth M. 
Published: February 2018

Background: Mutations in proteins involved in telomere maintenance lead to a range of human diseases, including dyskeratosis congenita, idiopathic pulmonary fibrosis and cancer. Telomerase functions to add telomeric repeats back onto the ends of chromosomes, however non-canonical roles of components of telomerase have recently been suggested.Methods: Here we use a zebrafish telomerase mutant which harbours a nonsense mutation intertto investigate the adult phenotypes of fish derived from heterozygous parents of different ages. Furthermore we use whole genome sequencing data to estimate average telomere lengths.Results: We show that homozygous offspring from older heterozygotes exhibit signs of body wasting at a younger age than those of younger parents, and that offspring of older heterozygous parents weigh less irrespective of genotype. We also demonstrate thatterthomozygous mutant fish have a male sex bias, and that clutches from older parents also have a male sex bias in the heterozygous and wild-type populations. Telomere length analysis reveals that the telomeres of younger heterozygous parents are shorter than those of older heterozygous parents.Conclusions: These data indicate that the phenotypes observed in offspring from older parents cannot be explained by telomere length. Instead we propose that Tert functions outside of telomere length maintenance in an age-dependent manner to influence the adult phenotypes of the next generation.
How skilled do Israeli nurses perceive themselves to be in providing palliative care? Results of a national survey
Authors: Feder Shelli L , Collett David , Haron Yafa , Conley Samantha , Meron Tikva , Cherny Nathan , Schulman-Green Dena 
Published: February 2018

Background: In Israel, palliative care (PC) services are limited. This study assessed Israeli nurses' perceived competencies and educational needs in providing PC. Design: Online administration of the End-of-Life Professional Caregiver Survey (EPCS). Setting/subjects: Oncology and PC nurses were identified through the Israel Ministry of Health and Oncology Nurses' Society. Measurements: Demographic and practice data were analysed using analysis of variance tests to determine differences between nurse characteristics by EPCS domains. Results: The sample (n=105) was 94% female, had a mean age of 48 years (SD=10.5) and 83% were Jewish Israeli. Thirty-nine percent reported PC training in nursing school and 42% felt their workplace provided little to no PC education and resources to nurses. Those with advanced degrees and those who received post-graduate PC training had higher mean scores across EPCS domains (p<0.05 for all). Conclusions: Nursing education and workplace support in PC for Israeli nurses are limited. It is hoped that these findings may inform future PC nursing education and policy in Israel.
Speaking of ‘paratexts’: A theoretical revisitation
Authors: Barker Martin 
Published: February 2018

Abstract
The concept of a ‘paratext’ has become widely accepted and used within fan studies, as an all-encompassing term for both official and unofficial productions associated with contemporary transmedia productions – to the point where some scholars are arguing for the dissolution of the boundary between ‘text’ and ‘paratext’. But although some excellent empirical work has been and is being done on the range and operations of particular paratextual networks, not many people adopting the concept have considered its meaning and implications in the work of its originator, Gerard Genette. This essay looks back at Genette’s work, and contrasts his ideas with a number of contemporary uses, before outlining (via some test cases from materials associated with Game of Thrones) a working conception of ‘paratextuality’.
Playing by the rules: Storium, Star Wars and ludic fandom
Authors: Booth Paul 
Published: February 2018

Abstract
The digital media environment encourages critical engagement with games and fandom. This article examines two media texts that exist at a nexus point between fandom, the media industries and gaming in order to develop an interpretation of ludic fandom. Storium is a collaborative storytelling system reliant on individuals writing characters and situations in a digital storyworld. The managed, ludic properties of Storium mean that while the collaboration is unrestricted, the actual story being told is limited to only certain actions and situations. Investigating Storium stories that develop around (un)licensed media properties, I show how the unfolding storyworld becomes a form of collaborative fan fiction, harnessing and channelling the creative power of fans. Star Wars Rebellion is an officially licensed Star Wars board game developed by Fantasy Flight Games. Like Storium, Star Wars Rebellion illustrates a ludic perception of an official media franchise storyworld. Unlike Storium, Star Wars Rebellion presents an officially licensed world that develops original storylines depending on how it is played. Star Wars Rebellion represents the media industries making a type of fan fiction. Ultimately, this article argues that a corporate hand in ludic fandom means that however playful fandom seems, it is always constrained by corporate interests as fans must ‘play by the rules’ to engage with playful, digital texts.
‘I read comics from a feministic point of view’: Conceptualizing the transmedia ethos of the Captain Marvel fan community
Authors: Freeman Matthew , Taylor-Ashfield Charlotte 
Published: February 2018

Abstract
The contemporary media industries may be thinking transmedially so to engage their audiences across multiple platforms, but it is not enough to assume that the creation of a coherent brand, narrative or storyworld is enough to explain the specificities and the reasons for why audiences choose (or choose not) to engage in transmedia activities. This article argues for the need to analyse the behaviours and motivations of a media-crossing audience according to a more fluid, ephemeral and value-laden transmedia ethos. Specifically, this article uses Captain Marvel – alongside a wide-scale online survey made up of over 200 of the character’s fans – as a case study for examining the politics of transmediality, demonstrating how the migration of the Captain Marvel fan base across multiple platforms and iterations of the character is based not on the lure of interconnected storytelling or world building, but is rather built up of a much more layered transmedia ethos based on feminism, alternativism and a digi-gratis economy.
New Music Theatre – work in/and progress
Authors: Roesner David 
Published: February 2018

Abstract
This editorial introduces issue 11.2 of Studies in Musical Theatre, a special issue focusing on international development opportunities for new music theatre. The editorial responds to the appointment of composers Daniel Ott and Manos Tsangaris as artistic directors of the 2016 Munich Biennale, an appointment that allowed them to introduce a curatorial approach to developing new work for the musical stage. The special issue itself proceeds to consider some of the work created for the 2016 Munich Biennale, alongside discussions of other comparable processes that have generated new music theatre work in various arenas.
Physiological and Sport-Specific Comparison Between Division I and Division II Italian Male Field Hockey Players
Authors: Bartolomei Sandro , Nigro Federico , Gubellini Luca , Ciacci Simone , Merni Franco , Treno Filippo , Cortesi Matteo , Semprini Gabriele 
Published: February 2018

Abstract
Bartolomei, S, Nigro, F, Gubellini, L, Ciacci, S, Merni, F, Treno, F, Cortesi, M, and Semprini, G. Physiological and sport-specific comparison between Division I and Division II Italian male field hockey players. J Strength Cond Res 33(11): 3123–3128, 2019—The purpose of this study was to compare the anthropometric and performance profiles of Division I (D1) and Division II (D2) Italian field hockey players. Fifteen DI players and 15 D2 players (age = 25.4 ± 5.2 years; body mass = 78.5 ± 9.0 kg; and body height = 179.6 ± 7.8 cm) were assessed on one occasion for anthropometry, body composition, physiological measurements, and sport-specific skills. Differences between the 2 groups were evaluated using a 1-way analysis of variance. Pearson correlations were used to examine relationships between the different measurements. Significantly (p = 0.039) lower percentages of body fat were found on D1 group compared with D2 group (−3.5%). A significant difference between the groups were noted for shooting accuracy (p = 0.013), with the D1 group performing 14.5% better than the DII group. No significant differences between the groups were found for shooting speed (p = 0.103) and slalom and dribbling performances (p = 0.292 and p = 0.416, respectively). Physiological assessments did not show any significant differences between the groups. Large correlations (r = 0.73; p < 0.001) were found between shooting speed and accuracy. Moderate correlations were observed between the shooting speed and the hand grip strength, in particular of the left hand (r = 0.61; p = 0.007). Results of this study indicate that the difference between D1 and D2 players may be more related to technical factors than to physical fitness. Ball control, however, may not be a limiting factor in D2 players.
Discussion of “Correlations for Fully Softened Shear Strength Parameters” by B. A. Castellanos, T. L. Brandon, and D. R. VandenBerge, This Article Was Published in Geotechnical Testing Journal, Vol. 39, No. 4, 2016. [DOI: 10.1520/GTJ20150184]
Authors: O’Meara Thomas J. 
Published: February 2018

Abstract
In this paper, the authors criticize the use of a torsional ring shear device for measuring the fully softened strength (FSS) of fine-grained soils based on problematic ring shear data from Castellanos (2014). This is unfortunate and necessitated taking important time and energy to write this discussion. I have over 26 years of commercial soil testing experience while managing the Woodward-Clyde Consultants and AECOM Technical Services Laboratory in Santa Ana, California. I started performing Bromhead torsional ring shear tests to measure the residual strength (RS) of shear surfaces for landslides in 1991. As Professor Stark expanded his shear strength correlations and the geotechnical engineering practice embraced the use of FSS in stability analyses, I started using the Bromhead torsional ring shear device for FSS testing in 2009. The RS and FSS tests are performed in accordance with ASTM D6467, Standard Test Method for Torsional Ring Shear Test to Determine Drained Residual Shear Strength of Cohesive Soils, and ASTM D7608, Standard Test Method for Torsional Ring Shear Test to Determine Drained Fully Softened Shear Strength and Nonlinear Strength Envelope of Cohesive Soils (Using Normally Consolidated Specimen) for Slopes with No Preexisting Shear Surfaces, test methods, respectively.
Quantification and Compensation of CAM Errors in HSM
Authors: Msaddek El Bechir , Bouaziz Zoubeir , Dessein Gilles 
Published: February 2018

Abstract
To determine the numerical process imprecision of the complex shapes in high-speed machining, we must concentrate our study on computer-aided manufacturing (CAM) and computer-aided design (CAD) numerical models. At first, we define the theoretical prototype part in CAD. Then, the manufacturing software calculates the set of points and features of the tool orientations on the reference surface. However, we cannot always generate CAM machining trajectories that are identical to the theoretical contour. Depending on the complexity of the surface to be machined, CAM errors are generated between the theoretical contour and the machining trajectory. In this article, we proposed a quantification and a compensation tool of the CAM errors. In doing so, analytical models, which define the nodes of the tool-part contact, were developed. After that, a simulation tool based on a numerical calculation approach was structured. Finally, to compensate for the CAM errors in 2-D, the mirror method was used.
Atrialised right ventricular myxoma in a patient with Ebstein’s anomaly
Authors: John T-J. , Snyman H. W. , Janson J. , Pecoraro A. J. K. 
Published: February 2018

Summary
Ebstein’s anomaly is a rare entity affecting around 1 in 200,000 live births and accounts for less than 1% of congenital heart diseases. Ebstein’s anomaly with an associated right-sided myxoma is extremely rare, with only one other case report found in the literature. Previous reports have also noted cases of Ebstein’s anomaly associated with left-sided myxomas. We describe a female patient with, to our knowledge, the first case of a histopathologically confirmed right ventricular myxoma in the setting of Ebstein’s anomaly.
DrosophilaLarval Brain Neoplasms Present Tumour-Type Dependent Genome Instability
Authors: Rossi Fabrizio , Attolini Camille Stephan-Otto , Mosquera Jose Luis , Gonzalez Cayetano 
Published: February 2018

AbstractSingle nucleotide polymorphisms (SNPs) and copy number variants (CNVs) are found at different rates in human cancer. To determine if these genetic lesions appear in Drosophila tumors we have sequenced the genomes of 17 malignant neoplasms caused by mutations in l(3)mbt, brat, aurA, or lgl. We have found CNVs and SNPs in all the tumors. Tumor-linked CNVs range between 11 and 80 per sample, affecting between 92 and 1546 coding sequences. CNVs are in average less frequent in l(3)mbt than in brat lines. Nearly half of the CNVs fall within the 10 to 100Kb range, all tumor samples contain CNVs larger that 100 Kb and some have CNVs larger than 1Mb. The rates of tumor-linked SNPs change more than 20-fold depending on the tumor type: at late time points brat, l(3)mbt, and aurA and lgl lines present median values of SNPs/Mb of exome of 0.16, 0.48, and 3.6, respectively. Higher SNP rates are mostly accounted for by C &gt; A transversions, which likely reflect enhanced oxidative stress conditions in the affected tumors. Both CNVs and SNPs turn over rapidly. We found no evidence for selection of a gene signature affected by CNVs or SNPs in the cohort. Altogether, our results show that the rates of CNVs and SNPs, as well as the distribution of CNV sizes in this cohort of Drosophila tumors are well within the range of those reported for human cancer. Genome instability is therefore inherent to Drosophila malignant neoplastic growth at a variable extent that is tumor type dependent.
Examination of Signatures of Recent Positive Selection on Genes Involved in Human Sialic Acid Biology
Authors: Moon Jiyun M , Aronoff David M , Capra John A , Abbot Patrick , Rokas Antonis 
Published: February 2018

Abstract
Sialic acids are nine carbon sugars ubiquitously found on the surfaces of vertebrate cells and are involved in various immune response-related processes. In humans, at least 58 genes spanning diverse functions, from biosynthesis and activation to recycling and degradation, are involved in sialic acid biology. Because of their role in immunity, sialic acid biology genes have been hypothesized to exhibit elevated rates of evolutionary change. Consistent with this hypothesis, several genes involved in sialic acid biology have experienced higher rates of non-synonymous substitutions in the human lineage than their counterparts in other great apes, perhaps in response to ancient pathogens that infected hominins millions of years ago (paleopathogens). To test whether sialic acid biology genes have also experienced more recent positive selection during the evolution of the modern human lineage, reflecting adaptation to contemporary cosmopolitan or geographically-restricted pathogens, we examined whether their protein-coding regions showed evidence of recent hard and soft selective sweeps. This examination involved the calculation of four measures that quantify changes in allele frequency spectra, extent of population differentiation, and haplotype homozygosity caused by recent hard and soft selective sweeps for 55 sialic acid biology genes using publicly available whole genome sequencing data from 1,668 humans from three ethnic groups. To disentangle evidence for selection from confounding demographic effects, we compared the observed patterns in sialic acid biology genes to simulated sequences of the same length under a model of neutral evolution that takes into account human demographic history. We found that the patterns of genetic variation of most sialic acid biology genes did not significantly deviate from neutral expectations and were not significantly different among genes belonging to different functional categories. Those few sialic acid biology genes that significantly deviated from neutrality either experienced soft sweeps or population-specific hard sweeps. Interestingly, while most hard sweeps occurred on genes involved in sialic acid recognition, most soft sweeps involved genes associated with recycling, degradation and activation, transport, and transfer functions. We propose that the lack of signatures of recent positive selection for the majority of the sialic acid biology genes is consistent with the view that these genes regulate immune responses against ancient rather than contemporary cosmopolitan or geographically restricted pathogens.
Hemoroidektomi sonrası sıcak su oturma banyosu veya sıcak duş mu etkili: kanıtlar hangi düzeydedir?
Authors: OPAK YÜCEL Burcu , KARADAĞ Mevlüde 
Published: February 2018

Hemoroid anorektal bölgenin en çok karşılaşılan, çok sayıda insanda görülen ve insanların yaşam kalitelerini önemli ölçüde etkileyen hastalıklarındandır. Hemoroidal hastalık sorunları, evresine göre değerlendirilen bir yaklaşımla çözümlenmektedir ve hastalığının tedavisinde tıbbi ve cerrahi tedavileri içeren pek çok teknik kullanılmaktadır. Hemoroid tedavisinde kullanılan sıcak su oturma banyosu ve sıcak duş da tıbbi tedaviler içerisinde yer almakta ve hemoroidin hem cerrahi öncesi tedavisinde hem de cerrahi sonrası tedavisinde kullanılmaktadır. Uzun yıllardır kullanılan bu yöntemlerin olumlu etkileri olduğu gibi olumsuz etkileri de görülebilmektedir. Bu sistematik incelemede, hemoroidektomi sonrası sıcak su oturma banyosu veya sıcak duşun kullanımıyla ilgili yapılan araştırmaların gözden geçirilmesi ve çalışmalardan elde edilen verilerin değerlendirilmesi amaçlanmıştır.Yapılan literatür taraması sonucunda hemoroid tedavisi sonrası sıcak su oturma banyosu ve sıcak duş ile ilgili yeterince kaynağa ulaşılamamıştır. Ulaşılan kaynaklarda sıcak su uygulamasının girişimsel hemoroidektomi sonrası ağrı üzerine olumlu etkileri olduğu bildirilmiştir.