bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relative frequency of inherited retinal dystrophies in Brazil
Authors: Motta Fabiana Louise , Martin Renan Paulo , Filippelli-Silva Rafael , Salles Mariana Vallim , Sallum Juliana Maria Ferraz 
Published: October 2018

AbstractAmong the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246 Brazilian patients with hereditary retinopathies during 20 years of specialized outpatient clinic care. Of these patients, 559 had undergone at least one genetic test. In this cohort, the most prevalent dystrophies were non-syndromic retinitis pigmentosa (35%), Stargardt disease (21%), Leber congenital amaurosis (9%), and syndromic inherited retinal dystrophies (12%). Most patients had never undergone genetic testing (55%), and among the individuals with molecular test results, 28.4% had negative or inconclusive results compared to 71.6% with a conclusive molecular diagnosis. ABCA4 was the most frequent disease-causing gene, accounting for 20% of the positive cases. Pathogenic variants also occurred frequently in the CEP290, USH2A, CRB1, RPGR, and CHM genes. The relative frequency rates of different inherited retinal dystrophies in Brazil are similar to those found globally. Although mutations in more than 250 genes lead to hereditary retinopathies, only 66 genes were responsible for 70% of the cases, which indicated that smaller and cheaper gene panels can be just as effective and provide more affordable solutions for implementation by the Brazilian public health system.
RETRACTED ARTICLE: Evaluating polymicrobial immune responses in patients suffering from tick-borne diseases
Authors: Garg Kunal , Meriläinen Leena , Franz Ole , Pirttinen Heidi , Quevedo-Diaz Marco , Croucher Stephen , Gilbert Leona 
Published: October 2018

AbstractThere is insufficient evidence to support screening of various tick-borne diseases (TBD) related microbes alongside Borrelia in patients suffering from TBD. To evaluate the involvement of multiple microbial immune responses in patients experiencing TBD we utilized enzyme-linked immunosorbent assay. Four hundred and thirty-two human serum samples organized into seven categories followed Centers for Disease Control and Prevention two-tier Lyme disease (LD) diagnosis guidelines and Infectious Disease Society of America guidelines for post-treatment Lyme disease syndrome. All patient categories were tested for their immunoglobulin M (IgM) and G (IgG) responses against 20 microbes associated with TBD. Our findings recognize that microbial infections in patients suffering from TBDs do not follow the one microbe, one disease Germ Theory as 65% of the TBD patients produce immune responses to various microbes. We have established a causal association between TBD patients and TBD associated co-infections and essential opportunistic microbes following Bradford Hill’s criteria. This study indicated an 85% probability that a randomly selected TBD patient will respond to Borrelia and other related TBD microbes rather than to Borrelia alone. A paradigm shift is required in current healthcare policies to diagnose TBD so that patients can get tested and treated even for opportunistic infections.
Importance of family history of diabetes in computing a diabetes risk score in Korean prediabetic population
Authors: Ustulin Morena , Rhee Sang Youl , Chon Suk , Ahn Kyu Keung , Lim Ji Eun , Oh Bermseok , Kim Sung-Hoon , Baik Sei Hyun , Park Yongsoo , Nam Moon Suk , Lee Kwan Woo , Kim Young Seol , Woo Jeong-Taek 
Published: October 2018

AbstractPrediabetic subjects represent a vulnerable population, requiring special care to reduce the risk of diabetes onset. We developed and validated a diabetes risk score for prediabetic subjects using the Korea National Diabetes Program (KNDP) cohort. Subjects included in the multicenter and prospective cohort (n = 1162) had high diabetes risk at baseline (2005) and were followed until 2012. Survival analysis was performed to analyze the prospective cohort over time, and the bootstrap method was used to validate our model. We confirmed our findings in an external cohort. A diabetes risk score was calculated and the cut-off defined using a receiver operating characteristic curve. Age, body mass index, total cholesterol, and family history of diabetes were associated with diabetes. The model performed well after correction for optimism (Cadj = 0.735). A risk score was defined with a cut-off of ≥5 that maximized sensitivity (72%) and specificity (62%), with an area under the curve of 0.73. Prediabetic subjects with a family history of diabetes had a higher probability of diabetes (risk score = 5) irrespective of other variables; this result was confirmed in the external cohort. Hence, prediabetic subjects with a family history of diabetes have a higher probability of developing diabetes, regardless of other clinical factors.
Open grid model of Australia’s National Electricity Market allowing backtesting against historic data
Authors: Xenophon Aleksis , Hill David 
Published: October 2018

AbstractRising electricity prices, concerns regarding system security, and emissions reduction are central to an energy policy debate under way in Australia. To better evaluate mechanisms that seek to address the nexus of engineering, economic, and environmental challenges facing the country’s electricity system, we have constructed network and generator datasets describing the operation of Australia’s largest transmission network. These data have been collated using open-source software, and are available under an open license. They include the geospatial locations of network elements, and have been designed to interface with a public database maintained by the Australian Energy Market Operator. This interface allows historic data, such as generator dispatch and regional load signals, to be integrated with market models. Interactive network maps, independent datasets, and power-flow models have been used to assess the completeness and functionality of the derived datasets. In the context of Australia, these data can be used to examine geospatial and temporal impacts of power injections from renewables. More generally, they allow market models to be benchmarked against realised outcomes.
Combining tensile testing and structural analysis at the single collagen fibril level
Authors: Quigley Andrew S. , Bancelin Stéphane , Deska-Gauthier Dylan , Légaré François , Veres Samuel P. , Kreplak Laurent 
Published: October 2018

AbstractTensile testing to failure followed by imaging is a simple way of studying the structure-function relationship of connective tissues such as skin, tendon, and ligament. However, interpretation of these datasets is complex due to the hierarchical structures of the tissues spanning six or more orders of magnitude in length scale. Here we present a dataset obtained through the same scheme at the single collagen fibril level, the fundamental tensile element of load-bearing tissues. Tensile testing was performed on fibrils extracted from two types of bovine tendons, adsorbed on a glass surface and glued at both ends. An atomic force microscope (AFM) was used to pull fibrils to failure in bowstring geometry. The broken fibrils were then imaged by AFM for morphological characterization, by second harmonic generation microscopy to assess changes to molecular packing, and by fluorescence microscopy after incubation with a peptide probe that binds specifically to denatured collagen molecules. This dataset linking stress-strain curves to post-failure molecular changes is useful for researchers modelling or designing functional protein materials.
A large-scale dataset of in vivo pharmacology assay results
Authors: Hunter Fiona M. I. , L. Atkinson Francis , Bento A. Patrícia , Bosc Nicolas , Gaulton Anna , Hersey Anne , Leach Andrew R. 
Published: October 2018

AbstractChEMBL is a large-scale, open-access drug discovery resource containing bioactivity information primarily extracted from scientific literature. A substantial dataset of more than 135,000 in vivo assays has been collated as a key resource of animal models for translational medicine within drug discovery. To improve the utility of the in vivo data, an extensive data curation task has been undertaken that allows the assays to be grouped by animal disease model or phenotypic endpoint. The dataset contains previously unavailable information about compounds or drugs tested in animal models and, in conjunction with assay data on protein targets or cell- or tissue- based systems, allows the investigation of the effects of compounds at differing levels of biological complexity. Equally, it enables researchers to identify compounds that have been investigated for a group of disease-, pharmacology- or toxicity-relevant assays.
W‐band dual‐band waveguide band‐pass filter using dual‐mode cavities
Authors: Chen Jianfei , Zhang Sheng , Zhang Chao , Li Yuehua 
Published: October 2018

A W‐band dual‐band waveguide band‐pass filter composed of two dual‐mode (TE101 and TE201) cavities and four single‐mode (TE101) ones is presented. This dual‐band filter with each passband of fourth‐order Chebyshev response is synthesised and designed with the centre frequencies 85.35 and 101.45 GHz, as well as the 3 dB fractional bandwidths of 5.3 and 2.1% by adopting the dual‐mode resonators and the controllable coupling technique. The prototype is fabricated by the conventional computer numerical control milling technology easily. The measured results are very close to the simulations in full W‐band.
PIV experimental study on the flow field characteristics of axial flow blood pump under three operating conditions
Authors: Xiao Zhiyong , Tan Jianping , Wang Shuai , Yu Zheqin , Wu Weiqiang 
Published: October 2018

In order to investigate the internal flow field of an axial blood pump, two‐dimensional (2D) particle image velocimetry (PIV) was applied to test the blood pump under three different conditions. Acquiring the images of inlet, front guide vane, impeller, back guide vane and outlet area, the distribution of internal flow field was then analysed. The rotation speed of the blood pump was set to 6000, 7000 and 8000 r/min, respectively. The results show that the flow field of blood pump is stable relatively at the inlet area. Some vortices and reflux existed due to the block of guide vane in the import and impeller area. With the increase of rotating speed, the overall disturbance degree of flow field increases. Under the condition of low rotation speed, the flow field acceleration is insufficient. Under the medium rotation speed condition, the flow field is stable and the velocity distribution is even. Under the condition of high rotating speed, the number of vortices in the flow field increased significantly, the flow separation phenomenon at the impeller was obvious and more unstable flow appeared at the back guide vanes and outlet area.
Microwave-Assisted Grinding of Bolkardag (Nigde, Turkey) Gold Ore and Enhanced Cyanide Leachability
Authors: Seflek Cemaliye , Bayat Oktay 
Published: October 2018

This experimental work aims at studying the effect of particle size on the microwave pre-treatment for the grindability of Bolkardag (Nigde, Turkey) gold ore for cyanide leaching. Three different particle size batches (−8 + 4.7 mm, −4.75 + 2 mm and −2 + 1 mm) were used for microwave treatment. Each sub-samples were exposed to four different power levels of microwave energy (0.09, 0.18, 0.36 and 0.6 kW) at exposure times of 5, 10, 15 and 30 minutes and then grindability characteristic of the treated samples were investigated with Berry and Bruce comparative grindability method. It was clearly seen that increasing power level and exposure time caused a reduction in comparative Bond Work index. A maximum reduction in Bond Work index (73.54%) was achieved by 0.6 kW at 30 minutes of microwave treatment. Compared to the untreated sample’s results, gold and silver extraction rates increased, using microwave-treated samples, about 7% and 9% after 77 hours cyanide leaching, respectively. Additionally, the hydrated lime added samples (after 0.6 kW at 30 minutes of microwave treatment) were used in the cyanide leaching tests to determine the possible effect. It was observed that there was no significant difference on leaching extraction rates using lime free or lime added samples. Applying microwave pre-treatment before cyanide leaching, the gold and silver extraction rates could be increased and also the cost of communition could be reduced due to easier breakage of the ore due to a significant decrease in Bond Work index.
Forecasting Solar Energetic Particle (SEP) events with Flare X-ray peak ratios
Authors: Kahler Stephen W. , Ling Alan. G. 
Published: October 2018

Solar flare X-ray peak fluxes and fluences in the 0.1–0.8 nm band are often used in models to forecast solar energetic particle (SEP) events. Garcia (2004) [Forecasting methods for occurrence and magnitude of proton storms with solar soft X rays, Space Weather, 2, S02002, 2004] used ratios of the 0.05–0.4 and 0.1–0.8 nm bands of the X-ray instrument on the GOES spacecraft to plot inferred peak flare temperatures versus peak 0.1–0.8 nm fluxes for flares from 1988 to 2002. Flares associated with E > 10 MeV SEP events of >10 proton flux units (pfu) had statistically lower peak temperatures than those without SEP events and therefore offered a possible empirical forecasting tool for SEP events. We review the soft and hard X-ray flare spectral variations as SEP event forecast tools and repeat Garcia’s work for the period 1998–2016, comparing both the peak ratios and the ratios of the preceding 0.05–0.4 nm peak fluxes to the later 0.1–0.8 nm peak fluxes of flares >M3 to the occurrence of associated SEP events. We divide the events into eastern and western hemisphere sources and compare both small (1.2–10 pfu) and large (≥300 pfu) SEP events with those of >10 pfu. In the western hemisphere X-ray peak ratios are statistically lower for >10 pfu SEP events than for non-SEP events and are even lower for the large (>300 pfu) events. The small SEP events, however, are not distinguished from the non-SEP events. We discuss the possible connections between the flare X-ray peak ratios and associated coronal mass ejections that are presumed to be the sources of the SEPs.
Comparison of Liver Shear Wave Elastography Measurements using Siemens Acuson S3000, GE LOGIQ E9, Philips EPIQ7 and Toshiba Aplio 500 (Software Versions 5.0 and 6.0) in Healthy Volunteers
Authors: Gress Victoria Sofie , Glawion Elisa Nadine , Schmidberger Julian , Kratzer Wolfgang 
Published: October 2018

Abstract
Aim To compare ARFI-based elastography procedures of the GE LOGIQ E9, Philips EPIQ7, and Toshiba Aplio 500 (versions 5.0 and 6.0) ultrasound scanners with the Siemens Acuson S3000 reference scanner in subjects with healthy livers, taking various impact factors into account.
Materials and Methods The study consisted of two subsequent study parts. Study 1 (n = 205) evaluated the 2D-SWE techniques of GE and Toshiba 5.0 and the pSWE technique of the Philips scanner against the reference scanner Siemens. Study 2 (n = 113) evaluated Toshiba 6.0 against Siemens in a different cohort. Out of 433 study participants in both studies, 318 (M:F = 122:196) met the inclusion criteria. Elastography measurements were performed in the right lobe of the liver at depths of 3, 5 and 7 cm. At each depth, five measurements were acquired with the Siemens and Philips scanners and one measurement each with the GE and Toshiba machines.
Results The Philips (r = 0.58, p < 0.0001) and the GE (r = 0.63, p < 0.0001) scanners showed the strongest correlation of shear wave velocities between Siemens and comparator scanners, at a depth of 5 cm. We found the strongest relationship with Toshiba (software version 6.0) at a depth of 3 cm (r = 0.57, p < 0.0001). Toshiba software version 5.0 did not give satisfactory results. The factors of sex and BMI showed scanner-specific differences in the values measured (p < 0.05). The age of the subjects did not seem to have any effect.
Conclusion With the exception of Toshiba software version 5.0, all of the scanners we tested can be recommended without reservation for comparative ultrasound elastography of the healthy liver at measurement depths of 3 cm up to 5 cm.
Systemic Lupus Erythematosus and Pregnancy: A Single-Center Observational Study of 69 Pregnancies
Authors: Naseri Estephania Pignaton , Surita Fernanda Garanhani , Borovac-Pinheiro Anderson , Santos Marília , Appenzeller Simone , Costallat Lilian Tereza Lavras 
Published: October 2018

Objective To evaluate the effects of pregnancy in systemic lupus erythematosus (SLE) patients.
Methods The present article is a retrospective cohort study. Data were collected from medical records of pregnant women with SLE from January 2002 to December 2012 at Universidade Estadual de Campinas, in the city of Campinas, state of São Paulo, Brazil. Systemic lupus erythematosus and disease activity were defined according to the American College of Rheumatology and the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) criteria respectively. The means, standard deviations (SDs), percentages and correlations were performed using the SAS software, version 9.4 (SAS Institute Inc., Cary, NC, US).
Results We obtained data from 69 pregnancies in 58 women. During pregnancy, a new flare was observed in 39.2% (n = 27). The manifestations were most common in patients with prior kidney disease, and mainly occurred during the third quarter and the puerperium. Renal activity occurred in 24.6% (n = 17), and serious activity, in 16% (n = 11). Of all deliveries, 75% (n = 48) were by cesarean section. Two maternal deaths occurred (3%). Preterm birth was the main complication in the newborns. The abortion rate was 8.7%. Severe SLEDAI during pregnancy was associated with prematurity (100%) and perinatal death (54%).
Conclusion The maternal-fetal outcome is worse in SLE when the women experience a flare during pregnancy. The best maternal-fetal outcomes occur when the disease is in remission for at least 6 months before the pregnancy.
Association between Matrix Metallopeptidase 9 Polymorphism and Breast Cancer Risk
Authors: Felizi Rogério Tadeu , Veiga Melissa Gonzalez , Carelli Filho Ivo , Souto Ricardo Peres do , Fernandes César Eduardo , Oliveira Emerson 
Published: October 2018

Objective Epidemiological studies have shown evidence of the effect of genetic variations in the pathogenesis of breast cancer and have suggested a relationship of the disease with genetic polymorphisms. Matrix metallopeptidase 9 (MMP-9) is a collagenase responsible for the degradation of type IV collagen, the major component of the basement membrane, and other essential extra cellular matrix components, being involved in the tumor cell invasion and metastasis. Our objective was to evaluate the relationship between the MMP-9-1562 C/T polymorphism (rs 3918242) and the risk of developing breast cancer.
Methods In this case-control study, the frequency of the MMP-9-1562 C/T polymorphism (rs 3918242) was determined in 148 women with breast cancer and 245 women without the disease. The DNA was extracted from plasma samples, and the gene was amplified by polymerase chain reaction (PCR); the presence of the polymorphism was determined using restriction enzymes.
Results After adjusting for confounding variables, we found that the polymorphism was not associated with the occurrence of breast cancer (odds ratio [OR] = 1.159, 95% confidence interval [CI]: 0.6625–1.997, p = 0.5964). We also found no association with more advanced disease, the presence of hormone receptors, human epidermal growth factor receptor 2 (HER2) overexpression, or rate of tumor cell proliferation.
Conclusion We did not observe a relationship between MMP-9–1562 C/T polymorphism (rs 3918242) and the occurrence of breast cancer.
Physical interactions reduce the power of natural selection in growing yeast colonies
Authors: Giometto Andrea , Nelson David R. , Murray Andrew W. 
Published: October 2018

Significance
Microbes often live in dense populations such as colonies and biofilms. We show that the success and extinction of yeast strains within a growing colony are determined by a combination of their relative fitness and the forces exerted by proliferating cells on their neighbors. These physical interactions prolong the survival of less-fit strains at the growing frontier of the colony and slow down the colony’s takeover by fitter strains. This reduction in the power of natural selection favors the maintenance of genetic diversity in environments in which the strains’ relative growth rates vary with time. Growth-induced physical interactions may thus favor the maintenance of drug-resistant cells, which are typically less fit than nonresistant cells, within dense microbial populations.
On the role of gaze for successful and efficient communication
Authors: Staudte Maria , Crocker Matthew W. 
Published: October 2018

Abstract

Speakers tend to fixate objects they are about to mention, while listeners inspect those objects that they believe to be intended referents of the speaker. These production- and comprehension-contingent gaze behaviors may form an integral part of the signal itself, making it inherently reciprocal. Here, we present work that has investigated the interplay of gaze and language and assessed the role of speaker gaze for language comprehension as well as the utility of listener gaze for an instruction giver. Both lines of research make use of artificial interaction partners which increases experimental control while maintaining a dynamic interactive setting. Thus, the reciprocal nature of situated dialogue becomes a tractable aspect in the enterprise of dealing with human (gaze) behavior.
Quantifying the interplay of gaze and gesture in deixis using an experimental-simulative approach
Authors: Pfeiffer Thies , Renner Patrick 
Published: October 2018

Abstract

Gaze and gestures have been studied qualitatively, e.g., by Kendon and others (Kendon, 1990; McNeill, 1992; Kendon, 2004; McNeill, 2006). A quantitative assessment of gaze
and gestures in dialogue, in particular regarding precise orientations, positions and timings, however, has only been
possible with the advent of advanced measuring technologies, such as motion capturing or eye tracking. Especially in
dynamic natural environments, when interlocutors are concerned with their surrounding three-dimensional environment, a
precise three-dimensional reconstruction of the set-up is required to analyze the produced multimodal utterances.
In this article we review several of our past projects with a focus on our experimental-simulative approach in which we
combine state-of-the-art tracking technologies with 3D representations and computer simulations to test different
hypotheses in the context of deixis in human-human interaction.
Gaze as a predictor for lexical and gestural alignment
Authors: Oben Bert 
Published: October 2018

Abstract

This chapter provides evidence for the role gaze might have on behaviour at another multimodal level of behaviour, viz. alignment (or copying behaviour) of hand gestures and lexical items. In a corpus of dyadic interactions we demonstrate that gaze behaviour affects alignment behaviour differently at the lexical than at the gestural level: if a speaker is looking at an addressee’s face while uttering a target word, this significantly increases the probability that the addressee will use that same word later in the conversation. If a speaker is looking at an addressee’s face while performing a target gesture, there is no correlation with subsequent gesture production by that addressee. However, if an addressee looked at a gesture made by a speaker, this gesture was significantly more often used by that addressee later in the conversation (compared to situations in which the addressee was not looking at that gesture). We argue that the difference in gaze behaviour between lexical and gestural alignment cases might be explained by the dual function of eye gaze in interaction, viz. gaze for visual perception and gaze for signalling meaning.