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Sökning: WFRF:(Ioannis P.) > (2015-2019)

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2.
  • 2019
  • Tidskriftsartikel (refereegranskat)
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3.
  • Loza, M. J., et al. (författare)
  • Validated and longitudinally stable asthma phenotypes based on cluster analysis of the ADEPT study
  • 2016
  • Ingår i: Respiratory Research. - : Springer Nature. - 1465-9921 .- 1465-993X. ; 17:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Asthma is a disease of varying severity and differing disease mechanisms. To date, studies aimed at stratifying asthma into clinically useful phenotypes have produced a number of phenotypes that have yet to be assessed for stability and to be validated in independent cohorts. The aim of this study was to define and validate, for the first time ever, clinically driven asthma phenotypes using two independent, severe asthma cohorts: ADEPT and U-BIOPRED. Methods: Fuzzy partition-around-medoid clustering was performed on pre-specified data from the ADEPT participants (n = 156) and independently on data from a subset of U-BIOPRED asthma participants (n = 82) for whom the same variables were available. Models for cluster classification probabilities were derived and applied to the 12-month longitudinal ADEPT data and to a larger subset of the U-BIOPRED asthma dataset (n = 397). High and low type-2 inflammation phenotypes were defined as high or low Th2 activity, indicated by endobronchial biopsies gene expression changes downstream of IL-4 or IL-13. Results: Four phenotypes were identified in the ADEPT (training) cohort, with distinct clinical and biomarker profiles. Phenotype 1 was "mild, good lung function, early onset", with a low-inflammatory, predominantly Type-2, phenotype. Phenotype 2 had a "moderate, hyper-responsive, eosinophilic" phenotype, with moderate asthma control, mild airflow obstruction and predominant Type-2 inflammation. Phenotype 3 had a "mixed severity, predominantly fixed obstructive, non-eosinophilic and neutrophilic" phenotype, with moderate asthma control and low Type-2 inflammation. Phenotype 4 had a "severe uncontrolled, severe reversible obstruction, mixed granulocytic" phenotype, with moderate Type-2 inflammation. These phenotypes had good longitudinal stability in the ADEPT cohort. They were reproduced and demonstrated high classification probability in two subsets of the U-BIOPRED asthma cohort. Conclusions: Focusing on the biology of the four clinical independently-validated easy-to-assess ADEPT asthma phenotypes will help understanding the unmet need and will aid in developing tailored therapies. Trial registration:NCT01274507(ADEPT), registered October 28, 2010 and NCT01982162(U-BIOPRED), registered October 30, 2013.
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4.
  • Tinetti, G., et al. (författare)
  • A chemical survey of exoplanets with ARIEL
  • 2018
  • Ingår i: Experimental Astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 46:1, s. 135-209
  • Tidskriftsartikel (refereegranskat)abstract
    • Thousands of exoplanets have now been discovered with a huge range of masses, sizes and orbits: from rocky Earth-like planets to large gas giants grazing the surface of their host star. However, the essential nature of these exoplanets remains largely mysterious: there is no known, discernible pattern linking the presence, size, or orbital parameters of a planet to the nature of its parent star. We have little idea whether the chemistry of a planet is linked to its formation environment, or whether the type of host star drives the physics and chemistry of the planet’s birth, and evolution. ARIEL was conceived to observe a large number (~1000) of transiting planets for statistical understanding, including gas giants, Neptunes, super-Earths and Earth-size planets around a range of host star types using transit spectroscopy in the 1.25–7.8 μm spectral range and multiple narrow-band photometry in the optical. ARIEL will focus on warm and hot planets to take advantage of their well-mixed atmospheres which should show minimal condensation and sequestration of high-Z materials compared to their colder Solar System siblings. Said warm and hot atmospheres are expected to be more representative of the planetary bulk composition. Observations of these warm/hot exoplanets, and in particular of their elemental composition (especially C, O, N, S, Si), will allow the understanding of the early stages of planetary and atmospheric formation during the nebular phase and the following few million years. ARIEL will thus provide a representative picture of the chemical nature of the exoplanets and relate this directly to the type and chemical environment of the host star. ARIEL is designed as a dedicated survey mission for combined-light spectroscopy, capable of observing a large and well-defined planet sample within its 4-year mission lifetime. Transit, eclipse and phase-curve spectroscopy methods, whereby the signal from the star and planet are differentiated using knowledge of the planetary ephemerides, allow us to measure atmospheric signals from the planet at levels of 10–100 part per million (ppm) relative to the star and, given the bright nature of targets, also allows more sophisticated techniques, such as eclipse mapping, to give a deeper insight into the nature of the atmosphere. These types of observations require a stable payload and satellite platform with broad, instantaneous wavelength coverage to detect many molecular species, probe the thermal structure, identify clouds and monitor the stellar activity. The wavelength range proposed covers all the expected major atmospheric gases from e.g. H2O, CO2, CH4 NH3, HCN, H2S through to the more exotic metallic compounds, such as TiO, VO, and condensed species. Simulations of ARIEL performance in conducting exoplanet surveys have been performed – using conservative estimates of mission performance and a full model of all significant noise sources in the measurement – using a list of potential ARIEL targets that incorporates the latest available exoplanet statistics. The conclusion at the end of the Phase A study, is that ARIEL – in line with the stated mission objectives – will be able to observe about 1000 exoplanets depending on the details of the adopted survey strategy, thus confirming the feasibility of the main science objectives.
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5.
  • Östling, Jörgen, et al. (författare)
  • IL-17-high asthma with features of a psoriasis immunophenotype
  • 2019
  • Ingår i: Journal of Allergy and Clinical Immunology. - : Elsevier. - 0091-6749 .- 1097-6825. ; 144:5, s. 1198-1213
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: The role of IL-17 immunity is well established in patients with inflammatory diseases, such as psoriasis and inflammatory bowel disease, but not in asthmatic patients, in whom further study is required.Objective: We sought to undertake a deep phenotyping study of asthmatic patients with upregulated IL-17 immunity.Methods: Whole-genome transcriptomic analysis was performed by using epithelial brushings, bronchial biopsy specimens (91 asthmatic patients and 46 healthy control subjects), and whole blood samples (n = 498) from the Unbiased Biomarkers for the Prediction of Respiratory Disease Outcomes (U-BIOPRED) cohort. Gene signatures induced in vitro by IL-17 and IL-13 in bronchial epithelial cells were used to identify patients with IL-17–high and IL-13–high asthma phenotypes.Results: Twenty-two of 91 patients were identified with IL-17, and 9 patients were identified with IL-13 gene signatures. The patients with IL-17–high asthma were characterized by risk of frequent exacerbations, airway (sputum and mucosal) neutrophilia, decreased lung microbiota diversity, and urinary biomarker evidence of activation of the thromboxane B2 pathway. In pathway analysis the differentially expressed genes in patients with IL-17-high asthma were shared with those reported as altered in psoriasis lesions and included genes regulating epithelial barrier function and defense mechanisms, such as IL1B, IL6, IL8, and β-defensin.Conclusion: The IL-17–high asthma phenotype, characterized by bronchial epithelial dysfunction and upregulated antimicrobial and inflammatory response, resembles the immunophenotype of psoriasis, including activation of the thromboxane B2 pathway, which should be considered a biomarker for this phenotype in further studies, including clinical trials targeting IL-17.
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6.
  • Zewinger, Stephen, et al. (författare)
  • Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease : a molecular and genetic association study
  • 2017
  • Ingår i: The Lancet Diabetes and Endocrinology. - : ELSEVIER SCIENCE INC. - 2213-8587 .- 2213-8595. ; 5:7, s. 534-543
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Lipoprotein(a) concentrations in plasma are associated with cardiovascular risk in the general population. Whether lipoprotein(a) concentrations or LPA genetic variants predict long-term mortality in patients with established coronary heart disease remains less clear.Methods: We obtained data from 3313 patients with established coronary heart disease in the Ludwigshafen Risk and Cardiovascular Health (LURIC) study. We tested associations of tertiles of lipoprotein(a) concentration in plasma and two LPA single-nucleotide polymorphisms ([SNPs] rs10455872 and rs3798220) with all-cause mortality and cardiovascular mortality by Cox regression analysis and with severity of disease by generalised linear modelling, with and without adjustment for age, sex, diabetes diagnosis, systolic blood pressure, BMI, smoking status, estimated glomerular filtration rate, LDL-cholesterol concentration, and use of lipid-lowering therapy. Results for plasma lipoprotein(a) concentrations were validated in five independent studies involving 10 195 patients with established coronary heart disease. Results for genetic associations were replicated through large-scale collaborative analysis in the GENIUS-CHD consortium, comprising 106 353 patients with established coronary heart disease and 19 332 deaths in 22 studies or cohorts.Findings: The median follow-up was 9.9 years. Increased severity of coronary heart disease was associated with lipoprotein(a) concentrations in plasma in the highest tertile (adjusted hazard radio [HR] 1.44, 95% CI 1.14-1.83) and the presence of either LPA SNP (1.88, 1.40-2.53). No associations were found in LURIC with all-cause mortality (highest tertile of lipoprotein(a) concentration in plasma 0.95, 0.81-1.11 and either LPA SNP 1.10, 0.92-1.31) or cardiovascular mortality (0.99, 0.81-1.2 and 1.13, 0.90-1.40, respectively) or in the validation studies.Interpretation: In patients with prevalent coronary heart disease, lipoprotein(a) concentrations and genetic variants showed no associations with mortality. We conclude that these variables are not useful risk factors to measure to predict progression to death after coronary heart disease is established.
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7.
  • Karampotsis, Evangelos, et al. (författare)
  • Computational intelligence techniques for modelling the critical flashover voltage of insulators : From accuracy to comprehensibility
  • 2017
  • Ingår i: Advances in Artificial Intelligence: From Theory to Practice. - Cham : Springer. - 9783319600413 - 9783319600420 ; , s. 295-301
  • Konferensbidrag (refereegranskat)abstract
    • This paper copes with the problem of flashover voltage on polluted insulators, being one of the most important components of electric power systems. Α number of appropriately selected computational intelligence techniques are developed and applied for the modelling of the problem. Some of the applied techniques work as black-box models, but they are capable of achieving highly accurate results (artificial neural networks and gravitational search algorithms). Other techniques, on the contrary, obtain results somewhat less accurate, but highly comprehensible (genetic programming and inductive decision trees). However, all the applied techniques outperform standard data analysis approaches, such as regression models. The variables used in the analyses are the insulator’s maximum diameter, height, creepage distance, insulator’s manufacturing constant, and also the insulator’s pollution. In this research work the critical flashover voltage on a polluted insulator is expressed as a function of the aforementioned variables. The used database consists of 168 different cases of polluted insulators, created through both actual and simulated values. Results are encouraging, with room for further study, aiming towards the development of models for the proper inspection and maintenance of insulators.
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8.
  • Altenhoff, Adrian M., et al. (författare)
  • Standardized benchmarking in the quest for orthologs
  • 2016
  • Ingår i: Nature Methods. - 1548-7091 .- 1548-7105. ; 13:5, s. 425-
  • Tidskriftsartikel (refereegranskat)abstract
    • Achieving high accuracy in orthology inference is essential for many comparative, evolutionary and functional genomic analyses, yet the true evolutionary history of genes is generally unknown and orthologs are used for very different applications across phyla, requiring different precision-recall trade-offs. As a result, it is difficult to assess the performance of orthology inference methods. Here, we present a community effort to establish standards and an automated web-based service to facilitate orthology benchmarking. Using this service, we characterize 15 well-established inference methods and resources on a battery of 20 different benchmarks. Standardized benchmarking provides a way for users to identify the most effective methods for the problem at hand, sets a minimum requirement for new tools and resources, and guides the development of more accurate orthology inference methods.
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9.
  • Burg, Dominic, et al. (författare)
  • Large-Scale Label-Free Quantitative Mapping of the Sputum Proteome
  • 2018
  • Ingår i: Journal of Proteome Research. - : American Chemical Society (ACS). - 1535-3893 .- 1535-3907. ; 17:6, s. 2072-2091
  • Tidskriftsartikel (refereegranskat)abstract
    • Analysis of induced sputum supematant is a minimally invasive approach to study the epithelial lining fluid and, thereby, provide insight into normal lung biology and the pathobiology of lung diseases. We present here a novel proteomics approach to sputum analysis developed within the U-BIOPRED (unbiased biomarkers predictive of respiratory disease outcomes) international project. We present practical and analytical techniques to optimize the detection of robust biomarkers in proteomic studies. The normal sputum proteome was derived using data-independent HDMSE applied to 40 healthy nonsmoking participants, which provides an essential baseline from which to compare modulation of protein expression in respiratory diseases. The "core" sputum proteome (proteins detected in >= 40% of participants) was composed of 284 proteins, and the extended proteome (proteins detected in >= 3 participants) contained 1666 proteins. Quality control procedures were developed to optimize the accuracy and consistency of measurement of sputum proteins and analyze the distribution of sputum proteins in the healthy population. The analysis showed that quantitation of proteins by HDMSE is influenced by several factors, with some proteins being measured in all participants' samples and with low measurement variance between samples from the same patient. The measurement of some proteins is highly variable between repeat analyses, susceptible to sample processing effects, or difficult to accurately quantify by mass spectrometry. Other proteins show high interindividual variance. We also highlight that the sputum proteome of healthy individuals is related to sputum neutrophil levels, but not gender or allergic sensitization. We illustrate the importance of design and interpretation of disease biomarker studies considering such protein population and technical measurement variance.
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10.
  • Burisch, Johan, et al. (författare)
  • Disease course of inflammatory bowel disease unclassified in a European population-based inception cohort : an Epi-IBD study
  • 2019
  • Ingår i: Journal of Gastroenterology and Hepatology. - : John Wiley & Sons. - 0815-9319 .- 1440-1746. ; 34:6, s. 996-1003
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: A definitive diagnosis of Crohn's disease (CD) or ulcerative colitis (UC) is not always possible and a proportion of patients will be diagnosed as inflammatory bowel disease unclassified (IBDU). The aim of the study was to investigate the prognosis of patients initially diagnosed with IBDU and the disease course during the following five years.METHODS: The Epi-IBD study is a prospective population-based cohort of 1,289 IBD patients diagnosed in centres across Europe. Clinical data were captured prospectively throughout the follow-up period.RESULTS: Overall, 476 (37%) patients were initially diagnosed with CD, 701 (54%) with UC, and 112 (9%) with IBDU. During follow-up, 28 (25%) IBDU patients were changed diagnoses to either UC (n=20, 71%) or CD (n=8, 29%) after a median of six months (IQR: 4-12), while 84 (7% of the total cohort) remained IBDU. A total of 17 (15%) IBDU patients were hospitalized for their IBD during follow-up, while 8 (7%) patients underwent surgery. Most surgeries (n=6, 75%) were performed on patients whose diagnosis was later changed to UC; three of these colectomies led to a definitive diagnosis of UC. Most patients (n=107, 96%) received 5-aminosalicylic acid, while 11 (10%) patients received biologicals, of whom five remained classified as IBDU.CONCLUSIONS: In a population-based inception cohort, 7% of IBD patients were not given a definitive diagnosis of IBD after five years of follow-up. One in four patients with IBDU eventually were classified as CD or UC. Overall, the disease course and medication burden in IBDU patients were mild.
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11.
  • Burisch, Johan, et al. (författare)
  • Natural Disease Course of Ulcerative Colitis During the First Five Years of Follow-up in a European Population-based Inception Cohort-An Epi-IBD Study
  • 2019
  • Ingår i: Journal of Crohn's & Colitis. - : Oxford University Press. - 1873-9946 .- 1876-4479. ; 13:2, s. 198-208
  • Tidskriftsartikel (refereegranskat)abstract
    • Background and Aims: Few population-based cohort studies have assessed the disease course of ulcerative colitis [UC] in the era of biological therapy and widespread use of immunomodulators. The aim of this study was to assess the 5-year outcome and disease course of patients with UC in the Epi-IBD cohort.Methods: In a prospective, population-based inception cohort of unselected patients with UC, patients were followed up from the time of their diagnosis, which included the collection of their clinical data, demographics, disease activity, medical therapy, and rates of surgery, cancers, and deaths. Associations between outcomes and multiple covariates were analysed by Cox regression analysis.Results: A total of 717 patients were included in the study. During follow-up, 43 [6%] patients underwent a colectomy and 163 [23%] patients were hospitalised. Of patients with limited colitis [distal to the left flexure], 90 [21%] progressed to extensive colitis. In addition, 92 [27%] patients with extensive colitis experienced a regression in disease extent, which was associated with a reduced risk of hospitalisation (hazard ratio [HR]: 0.5 95% CI: 0.3-0.8]. Overall, patients were treated similarly in both geographical regions; 80 [11%] patients needed biological therapy and 210 [29%] patients received immunomodulators. Treatment with immunomodulators was found to reduce the risk of hospitalisation [HR: 0.5 95% CI: 0.3-0.8].Conclusions: Although patients in this population-based cohort were treated more aggressively with immunomodulators and biological therapy than in cohorts from the previous two decades, their disease outcomes, including colectomy rates, were no different. However, treatment with immunomodulators was found to reduce the risk of hospitalisation.
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12.
  • Chatziioannou, Aristotelis, et al. (författare)
  • Blood-based omic profiling supports female susceptibility to tobacco smoke-induced cardiovascular diseases
  • 2017
  • Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • We recently reported that differential gene expression and DNA methylation profiles in blood leukocytes of apparently healthy smokers predicts with remarkable efficiency diseases and conditions known to be causally associated with smoking, suggesting that blood-based omic profiling of human populations may be useful for linking environmental exposures to potential health effects. Here we report on the sex-specific effects of tobacco smoking on transcriptomic and epigenetic features derived from genome-wide profiling in white blood cells, identifying 26 expression probes and 92 CpG sites, almost all of which are affected only in female smokers. Strikingly, these features relate to numerous genes with a key role in the pathogenesis of cardiovascular disease, especially thrombin signaling, including the thrombin receptors on platelets F2R (coagulation factor II (thrombin) receptor; PAR1) and GP5 (glycoprotein 5), as well as HMOX1 (haem oxygenase 1) and BCL2L1 (BCL2-like 1) which are involved in protection against oxidative stress and apoptosis, respectively. These results are in concordance with epidemiological evidence of higher female susceptibility to tobacco-induced cardiovascular disease and underline the potential of blood-based omic profiling in hazard and risk assessment.
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13.
  • Dale, Virginia H., et al. (författare)
  • Status and prospects for renewable energy using wood pellets from the southeastern United States
  • 2017
  • Ingår i: Global Change Biology Bioenergy. - : Wiley-Blackwell. - 1757-1693 .- 1757-1707. ; 9:8, s. 1296-1305
  • Tidskriftsartikel (refereegranskat)abstract
    • The ongoing debate about costs and benefits of wood-pellet based bioenergy production in the southeastern United States (SE USA) requires an understanding of the science and context influencing market decisions associated with its sustainability. Production of pellets has garnered much attention as US exports have grown from negligible amounts in the early 2000s to 4.6 million metric tonnes in 2015. Currently, 98% of these pellet exports are shipped to Europe to displace coal in power plants. We ask, 'How is the production of wood pellets in the SE USA affecting forest systems and the ecosystem services they provide?' To address this question, we review current forest conditions and the status of the wood products industry, how pellet production affects ecosystem services and biodiversity, and what methods are in place to monitor changes and protect vulnerable systems. Scientific studies provide evidence that wood pellets in the SE USA are a fraction of total forestry operations and can be produced while maintaining or improving forest ecosystem services. Ecosystem services are protected by the requirement to utilize loggers trained to apply scientifically based best management practices in planning and implementing harvest for the export market. Bioenergy markets supplement incomes to private rural landholders and provide an incentive for forest management practices that simultaneously benefit water quality and wildlife and reduce risk of fire and insect outbreaks. Bioenergy also increases the value of forest land to landowners, thereby decreasing likelihood of conversion to nonforest uses. Monitoring and evaluation are essential to verify that regulations and good practices are achieving goals and to enable timely responses if problems arise. Conducting rigorous research to understand how conditions change in response to management choices requires baseline data, monitoring, and appropriate reference scenarios. Long-term monitoring data on forest conditions should be publicly accessible and utilized to inform adaptive management.
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14.
  • Dengler, Juergen, et al. (författare)
  • GrassPlot - a database of multi-scale plant diversity in Palaearctic grasslands
  • 2018
  • Ingår i: Phytocoenologia. - : Schweizerbart. - 0340-269X. ; 48:3, s. 331-347
  • Tidskriftsartikel (refereegranskat)abstract
    • GrassPlot is a collaborative vegetation-plot database organised by the Eurasian Dry Grassland Group (EDGG) and listed in the Global Index of Vegetation-Plot Databases (GIVD ID EU-00-003). GrassPlot collects plot records (releves) from grasslands and other open habitats of the Palaearctic biogeographic realm. It focuses on precisely delimited plots of eight standard grain sizes (0.0001; 0.001;... 1,000 m(2)) and on nested-plot series with at least four different grain sizes. The usage of GrassPlot is regulated through Bylaws that intend to balance the interests of data contributors and data users. The current version (v. 1.00) contains data for approximately 170,000 plots of different sizes and 2,800 nested-plot series. The key components are richness data and metadata. However, most included datasets also encompass compositional data. About 14,000 plots have near-complete records of terricolous bryophytes and lichens in addition to vascular plants. At present, GrassPlot contains data from 36 countries throughout the Palaearctic, spread across elevational gradients and major grassland types. GrassPlot with its multi-scale and multi-taxon focus complements the larger international vegetationplot databases, such as the European Vegetation Archive (EVA) and the global database " sPlot". Its main aim is to facilitate studies on the scale-and taxon-dependency of biodiversity patterns and drivers along macroecological gradients. GrassPlot is a dynamic database and will expand through new data collection coordinated by the elected Governing Board. We invite researchers with suitable data to join GrassPlot. Researchers with project ideas addressable with GrassPlot data are welcome to submit proposals to the Governing Board.
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16.
  • Drivas, Ioannis C., et al. (författare)
  • Self-other agreement for improving communication in libraries and information services
  • 2016
  • Ingår i: Library Review. - : Emerald Group Publishing Limited. - 0024-2535 .- 1758-793X. ; 65:3, s. 206-223
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose – This paper aims to examine the Self-Other Agreement between leaders and employees in the sector of Libraries and Information Services (LIS) to construct a sustainable and strategic communicational process among library directors and staff. Design/methodology/approach – A sample of 135 leaders-employees of 17 organisations of LIS in more than five countries answered on a quantitative methodological research instrument in a multiplicity of variables. Statistical analysis of independent samples t-test was used to testify our research hypotheses. Findings – Results indicated that there is a difference in means between the two independent samples (leaders-employees). There are library leaders who rate themselves quite high, and there are employees who rate their leaders with lower evaluations. Research limitations/implications – This research extends and improves the matter of Self-Other Agreement in the sector of LIS through the collection of data that indicated a possible gap of communication and trustworthiness between leaders and employees. Practical implications – Regardless of the difference or the consensus of ratings among leaders and employees, the results of this research could be served as a stimulus plus as a starting point for library leaders by correcting or developing relations of communication and trustworthiness between them and their followers. Originality/value – Self-Other Agreement is one of the major factors that positively or negatively affect the overall operation of the organization in the way a leader could perceive the additional feedback. In the sector of LIS, the study of Self-Other Agreement is a rich and unexplored research area which deserves further analysis. © 2016, © Emerald Group Publishing Limited.
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17.
  • Drivas, Ioannis C., et al. (författare)
  • Strategic Communication Process for Sustainable Entrepreneurial Environment in Nonprofit Organizations
  • 2017
  • Ingår i: Strategic Innovative Marketing. - Cham : Springer. - 9783319338651 - 9783319338637 ; , s. 299-307
  • Konferensbidrag (refereegranskat)abstract
    • This research process is focused on the analysis of three axes which are Fair Treatment, Team Effectiveness, and Job Satisfaction of employees and decision-makers who are occupied in Nonprofit Organizations. Nowadays, the reduced financial flexibility imposes a careful delimitation of strategic communication that is implemented by Nonprofit Organizations. The aim is to examine a strategic communication process for a sustainable entrepreneurial environment. More specifically, this research attempts to find a possible correlation between the personal perception of each employee regarding the level he treated fairly in the working environment (Fair Treatment) and the existence of an effective team into which the employee feels he is a part of (Team Effectiveness). The purpose is to draw conclusions on how these two factors impact on the Job Satisfaction of the employee or decision-maker. The possibility to have correlations among the above axes can be operated as a feedback to highlight strengths and weaknesses of Nonprofit Organizations to their decision-makers.
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18.
  • Georgoulas, George, et al. (författare)
  • Automatizing the detection of rotor failures in induction motors operated via soft-starters
  • 2016
  • Ingår i: Annual Conference of the IEEE Industrial Electronics Society, IECON 2015. - Piscataway, NJ : IEEE Communications Society. - 9781479917624 ; , s. 3743-3748
  • Konferensbidrag (refereegranskat)abstract
    • Implementation of unsupervised induction motor condition monitoring systems has drawn an increasing attention recently among motor drives manufacturers. In the case of soft- starters the possibility of incorporating fault detection features to their conventional functions provides an added value to those elements. Design and development of advanced algorithms that are able to automatically detect and alert about possible failures without requiring continuous human inspection is an especially challenging research goal. In this paper, an algorithm for the automatic detection of rotor damages in induction motors in the case of soft starting is proposed. The twofold approach relies, first, on the application of a time-frequency transform to the starting current signal and, second, on a pattern recognition stage based on the treatment of the time-frequency representation as a symbolic sequence. The innovation of this work is the implementation of the proposed approach for the automatic detection of rotor cage faults in soft-started motors. The experimental results prove the usefulness of the approach for the automatic detection of such faults and its potential for possible future implementation in soft-started machines.
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19.
  • Georgoulas, Georgios, et al. (författare)
  • The use of a multilabel classification framework for the detection of broken bars and mixed eccentricity faults based on the start-up transient
  • 2017
  • Ingår i: IEEE Transactions on Industrial Informatics. - : IEEE. - 1551-3203 .- 1941-0050. ; 13:2, s. 625-634
  • Tidskriftsartikel (refereegranskat)abstract
    • In this paper, a data-driven approach for the classification of simultaneously occurring faults in an induction motor is presented. The problem is treated as a multilabel classification problem, with each label corresponding to one specific fault. The faulty conditions examined include the existence of a broken bar fault and the presence of mixed eccentricity with various degrees of static and dynamic eccentricity, while three 'problem transformation' methods are tested and compared. For the feature extraction stage, the start-up current is exploited using two well-known time-frequency (scale) transformations. This is the first time that a multilabel framework is used for the diagnosis of co-occurring fault conditions using information coming from the start-up current of induction motors. The efficiency of the proposed approach is validated using simulation data with promising results irrespective of the selected time-frequency transformation
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20.
  • Jansen, Mickel LA, et al. (författare)
  • Saccharomyces cerevisiae strains for second-generation ethanol production : from academic exploration to industrial implementation
  • 2017
  • Ingår i: FEMS Yeast Research. - : Oxford University Press. - 1567-1364. ; 17:5
  • Tidskriftsartikel (refereegranskat)abstract
    • The recent start-up of several full-scale 'second generation' ethanol plants marks a major milestone in the development of Saccharomyces cerevisiae strains for fermentation of lignocellulosic hydrolysates of agricultural residues and energy crops. After a discussion of the challenges that these novel industrial contexts impose on yeast strains, this minireview describes key metabolic engineering strategies that have been developed to address these challenges. Additionally, it outlines how proof-of-concept studies, often developed in academic settings, can be used for the development of robust strain platforms that meet the requirements for industrial application. Fermentation performance of current engineered industrial S. cerevisiae strains is no longer a bottleneck in efforts to achieve the projected outputs of the first large-scale second-generation ethanol plants. Academic and industrial yeast research will continue to strengthen the economic value position of second-generation ethanol production by further improving fermentation kinetics, product yield and cellular robustness under process conditions.
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21.
  • Karvelis, Petros, et al. (författare)
  • A Symbolic Representation Approach for the Diagnosis of Broken Rotor Bars in Induction Motors
  • 2015
  • Ingår i: IEEE Transactions on Industrial Informatics. - : Institute of Electrical and Electronics Engineers (IEEE). - 1551-3203 .- 1941-0050. ; 11:5, s. 1028-1037
  • Tidskriftsartikel (refereegranskat)abstract
    • One of the most common deficiencies of currently existing induction motor fault diagnosis techniques is their lack of automatization. Many of them rely on the qualitative interpretation of the results, a fact that requires significant user expertise, and that makes their implementation in portable condition monitoring devices difficult. In this paper, we present an automated method for the detection of the number of broken bars of an induction motor. The method is based on the transient analysis of the start-up current using wavelet approximation signal that isolates a characteristic component that emerges once a rotor bar is broken. After the isolation of this component, a number of stages are applied that transform the continuous-valued signal into a discrete one. Subsequently, an intelligent icon-like approach is applied for condensing the relative information into a representation that can be easily manipulated by a nearest neighbor classifier. The approach is tested using simulation as well as experimental data, achieving high-classification accuracy.
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22.
  • Karvelis, Petros, et al. (författare)
  • An automated thermographic image segmentation method for induction motor fault diagnosis
  • 2015
  • Ingår i: IECON 2014. - Piscataway, NJ : IEEE Communications Society. - 9781479940332 ; , s. 3396-3402
  • Konferensbidrag (refereegranskat)abstract
    • Eventual failures in induction machines may lead to catastrophic consequences in terms of economic costs for the companies. The development of reliable systems for fault detection that enable to diagnose a wide range of faults is a motivation of many researchers worldwide. In this context, non-invasive condition monitoring strategies have drawn special attention since they do not require interfering with the operation process of the machine. Though the analysis of the motor currents has proven to be a reliable, non-invasive methodology to detect some of the faults (especially when assessing the rotor condition), it lacks reliability for the diagnosis of other faults (e.g. bearing faults). The infrared thermography has proven to be an excellent, non-invasive tool that can complement the diagnosis reached with the motor current analysis, especially for some specific faults. However, there are still some pending issues regarding its application to induction motor faults diagnosis, such as the lack of automation or the extraction of reliable fault indicators based on the infrared data. This paper proposes a methodology that intends to provide a solution to the first issue: a method based on image segmentation is employed to detect several failures in an automated way. Four specific faults are analyzed: bearing faults, fan failures, rotor bar breakages and stator unbalance. The results show the potential of the technique to automatically identify the fault present in the machine.
  •  
23.
  • Karvelis, Petros, et al. (författare)
  • Symbolic time series analysis of the soft starting transient in induction machines
  • 2015
  • Ingår i: 2015 IEEE International Conference on Industrial Technology (ICIT 2015) to be held in Seville, Spain, March 17-19, 2015.. - Piscataway, NJ : IEEE Communications Society. - 9781479978007 ; , s. 3243-3248
  • Konferensbidrag (refereegranskat)abstract
    • Induction motors are in the heart of almost every production line especially due to their robustness under harsh environments. Nevertheless, even induction machines are prone to faults. Among them, the faults related to the breakage of rotor bars have received special attention by the research community with a number of methods proposed both for the case of steady state as well as for transient operation. For the latter, methods relying on the analysis of the start-up transient have proven to be able to effectively isolate the faulty component that is created by the asymmetry caused by the bar breakage. However, very little work has been done concerning the soft starting of induction machines. In this work, preliminary results of the application of a symbolic time series technique for the analysis of the transient, when the motor is controlled by a soft starter, will be presented and experimentally evaluated.
  •  
24.
  • Nikolakopoulos, Ioannis, 1986, et al. (författare)
  • Highly concurrent stream synchronization in many-core embedded systems
  • 2016
  • Ingår i: 4th ACM International Workshop on Many-Core Embedded Systems, MES 2016; Seoul; South Korea; (ACM International Conference Proceeding Series, vol 18). - New York, NY, USA : ACM. - 9781450342629 ; , s. 2-9
  • Konferensbidrag (refereegranskat)abstract
    • Embedded many-core architectures are expected to serve as significant components in the infrastructure of upcoming technologies like networks for the Internet of Things (IoT), facing real-time and stream processing challenges. In this work we explore the applicability of ScaleGate, a synchronization object from the massive data stream processing domain, on many-core embedded systems. We propose a new implementation of ScaleGate on the Epiphany architecture, a scalable embedded many-core co-processor, and study communication patterns that appear in the context of a baseband signal processing application. Our experimental evaluation shows significant improvements over standard barrier-based approaches, due to the asynchrony exploited by the use of ScaleGate.
  •  
25.
  • Papadopoulou-Marketou, Nektaria, 1974-, et al. (författare)
  • Biomarkers of diabetic nephropathy: A 2017 update
  • 2017
  • Ingår i: Critical reviews in clinical laboratory sciences. - : TAYLOR & FRANCIS LTD. - 1040-8363 .- 1549-781X. ; 54:5, s. 326-342
  • Forskningsöversikt (refereegranskat)abstract
    • Diabetic nephropathy (DN), also named diabetic kidney disease (DKD), is a devastating complication in patients with both type 1 and 2 diabetes mellitus (T1D and T2D) and its diagnosis has been traditionally based on the presence of micro-albuminuria (MA). The aim of this article is to update, through review of the relevant medical literature, the most promising biomarkers for early DKD detection. MA has historically been employed as an early marker of microvascular complications, indicating risk for advanced CKD. However, due to the inability of MA to adequately predict DKD, especially in young patients or in non-albuminuric DKD, additional biomarkers of glomerular and/or tubular injury have been proposed to uncover early renal dysfunction and structural lesions, even before MA occurs. Defining new predictive biomarkers to use alongside urinary albumin excretion (UAE) during the initial stages of DKD would provide a window of opportunity for preventive and/or therapeutic interventions to prevent or delay the onset of irreversible long-term complications and to improve outcomes by minimizing the rates of severe cardio-renal morbidity and mortality in DKD patients.
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26.
  • Papadopoulou-Marketou, Nektraria, et al. (författare)
  • NGAL and cystatin C: two possible early markers of diabetic nephropathy in young patients with type 1 diabetes mellitus: one year follow up
  • 2015
  • Ingår i: HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM. - : HELLENIC ENDOCRINE SOC. - 1109-3099. ; 14:2, s. 232-240
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: Diabetic nephropathy constitutes a major long-term complication in patients with type 1 diabetes mellitus (T1D) and its diagnosis is based on microalbuminuria. The aim of this observational follow-up study was to explore the role of neutrophil-gelatinase-associated lipocalin (NGAL) and cystatin C in unravelling early diabetic nephropathy even in patients with normoalbuminuria.DESIGN: Fifty-six euthyroid patients with T1D, with mean age 13.1 (SD: 3.2) years, and 49 healthy controls with mean age 12.8 (SD: 6.6) were recruited. Besides standard blood chemistry and urinary albumin excretion, serum NGAL (ELISA) and cystatin C (nephelometry) were measured at enrollment and after 12-15 months. GFR was calculated with the bedside Schwartz formula (eGFR) and the Lund strategy formula (L-eGFR).RESULTS: At baseline, mean NGAL levels were not significantly different between children with diabetes and controls. At re-evaluation, mean NGAL value and mean eGFR value in patients with diabetes were increased (p=0.032 and p=0.003 respectively). At both baseline and reevaluation, NGAL was positively correlated with cystatin C (r=0.41, pless than0.001), systolic arterial pressure z-score (r=0.3, p=0.031) and creatinine (r=0.32, p=0.010). NGAL correlated negatively with eGFR (r=-0.26, p=0.049) and L-eGFR (r=-0.33, p=0.010). Cystatin C had a negative correlation to eGFR (r=-0.29, p=0.025) and a positive one with creatinine (r=0.35, p=0.009) at reevaluation. No statistically significant correlation was found between cystatin C and microalbuminuria (p=0.736).CONCLUSIONS: NGAL and cystatin C, known markers of renal injury, correlate with renal function decline in T1D, suggesting that they may be used as supplementary tests to urine albumin excretion in order to unmask early renal dysfunction.
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27.
  • Papadopoulou-Marketou, Nektaria, 1974-, et al. (författare)
  • NGAL as an Early Predictive Marker of Diabetic Nephropathy in Children and Young Adults with Type 1 Diabetes Mellitus
  • 2017
  • Ingår i: Journal of Diabetes Research. - : Hindawi Publishing Corporation. - 2314-6745 .- 2314-6753. ; 2017
  • Tidskriftsartikel (refereegranskat)abstract
    • AIMS: Type 1 diabetes (T1D) is often associated with early microvascular complications. Previous studies demonstrated that increased systolic (SAP) and diastolic arterial blood pressures (DAP) are linked to microvascular morbidity in T1D. The aim of the study was to investigate the predictive role of neutrophil gelatinase-associated lipocalin (NGAL) in unravelling early cardio-renal dysfunction in T1D.METHODS: Two T1D patient groups participating in two-centre prospective cohorts were studied. Group A consisted of 57 participants aged 13.9 years (SD: 3.1) and group B consisted of 59 patients aged 28.0 years (SD: 4.4). Forty-nine healthy children [age: 10.5 years (SD: 6.6)] and 18 healthy adults [age 27.7 years (SD: 4.2)] served as controls. Serum concentrations of NGAL (ELISA) were determined, and SAP and DAP were examined (SAP and DAP also expressed as z-scores in the younger group). RESULTS: NGAL correlated positively with SAP in both patient groups (P = 0.020 and P = 0.031, resp.) and SAP z-score (P = 0.009) (group A) and negatively with eGFR in both groups (P < 0.001 and P < 0.001, resp.).CONCLUSIONS: NGAL may be proposed as a biomarker of early renal dysfunction even in nonalbuminuric T1D patients, since it was strongly associated with renal function decline and increasing systolic arterial pressure even at prehypertensive range in people with T1D, in a broad age range.
  •  
28.
  • Pnevmatikatos, Dionisios N., et al. (författare)
  • FASTER: Facilitating Analysis and Synthesis Technologies for Effective Reconfiguration
  • 2015
  • Ingår i: Microprocessors and Microsystems. - : Elsevier BV. - 0141-9331. ; 39:4-5, s. 321-338
  • Tidskriftsartikel (refereegranskat)abstract
    • The FASTER (Facilitating Analysis and Synthesis Technologies for Effective Reconfiguration) EU FP7 project, aims to ease the design and implementation of dynamically changing hardware systems. Our motivation stems from the promise reconfigurable systems hold for achieving high performance and extending product functionality and lifetime via the addition of new features that operate at hardware speed. However, designing a changing hardware system is both challenging and time-consuming. FASTER facilitates the use of reconfigurable technology by providing a complete methodology enabling designers to easily specify, analyze, implement and verify applications on platforms with general-purpose processors and acceleration modules implemented in the latest reconfigurable technology. Our tool-chain supports both coarse- and fine-grain FPGA reconfiguration, while during execution a flexible run-time system manages the reconfigurable resources. We target three applications from different domains. We explore the way each application benefits from reconfiguration, and then we asses them and the FASTER tools, in terms of performance, area consumption and accuracy of analysis.
  •  
29.
  • Schellenberger, Steffen, et al. (författare)
  • Release of Side-Chain Fluorinated Polymer-Containing Microplastic Fibers from Functional Textiles During Washing and First Estimates of Perfluoroalkyl Acid Emissions.
  • 2019
  • Ingår i: Environmental Science and Technology. - : American Chemical Society (ACS). - 0013-936X .- 1520-5851. ; 53:24, s. 14329-14338
  • Tidskriftsartikel (refereegranskat)abstract
    • The quantity and composition of fibers released from functional textiles during accelerated washing were investigated using the GyroWash method. Two fabrics [polyamide (PA) and polyester/cotton (PES/CO)] were selected and coated with perfluorohexane-based side-chain fluorinated polymers. Fibers released during washing ranged from ∼10 to 500 μ with a similar distribution for the two textile types. The PA-based fabric released considerably more fibers >20 μm in length compared to the PES/CO-based fabric (>1000/GyroWash for PA vs ∼200/GyroWash fibers for PES/CO). After one GyroWash (2-15 domestic washes), fibers that contained approximately 240 and 1300 μg total fluorine per square meter (μg F/m2) were released from the PA and PES/CO fabrics, respectively. Current understanding of the fate of microplastic fibers suggests that a large fraction of these fibers reach the environment either in effluent wastewater or sewage sludge applied to land. In the environment, the fluorinated side chains will be slowly cleaved from the backbone of the side-chain fluorinated polymers coated on the fibers and then transformed into short-chain perfluoroalkyl acids. On the European scale, emissions of up to ∼0.7 t of fluorotelomer alcohol (6:2 FTOH) per year were estimated for outdoor rain jackets treated with fluorotelomer-based side-chain fluorinated polymers.
  •  
30.
  • Schofield, James P. R., et al. (författare)
  • Topological data analysis (TDA) of U-BIOPRED paediatric peripheral blood gene expression identified asthma phenotypes characterised by alternative splicing of glucocorticoid receptor (GR) mRNA
  • 2018
  • Ingår i: European Respiratory Journal. - : European Respiratory Society. - 0903-1936 .- 1399-3003. ; 52
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • Background: Molecular stratification of childhood asthma could enable targeted therapy.Aims: Unbiased analysis of gene expression in paediatric severe (SA) and moderate/mild asthma (MA) blood samples to identify sub-phenotypes.Methods: Transcriptomic profiling by microarray analysis of blood from the U-BIOPRED paediatric cohort (Fleming ERJ 2015), pre- and school-age children, (SApre, n=62; MApre, n=42; SAsc, n=75 and MAsc, n=37). Topological data analysis (TDA) was used for unbiased clustering.Results: Sub-phenotypes, P1, P2, P3 and P4 were identified and are highlighted in the TDA network in the figure and a heatmap of selected variables. P1 (38% of the cohort, median 11 yrs) was characterised by low expression of glucocorticoid receptor (GR) mRNA splice variant with a long 3’ UTR (q = 2.43E-17), but no significant difference in the expression of glucocorticoid receptor (GR) mRNA splice variant with a short 3’ UTR. In P1, COX2 expression was up (q = 1.89E-06) and IFN-γ was down (q = 5.61E-06), characteristics of a decreased steroid response.Conclusion: Unbiased analysis of U-BIOPRED paediatric peripheral blood gene expression identified a sub-phenotype, P1, with an inhibited steroid response. P1 is associated with low expression of a splice variant of GR with a long 3’ UTR.
  •  
31.
  • Siegel, Corey A., et al. (författare)
  • Development of an index to define overall disease severity in IBD
  • 2018
  • Ingår i: Gut. - London, United Kingdom : BMJ Publishing Group Ltd. - 0017-5749 .- 1468-3288. ; 67:2, s. 244-254
  • Tidskriftsartikel (refereegranskat)abstract
    • Background and aim: Disease activity for Crohn's disease (CD) and UC is typically defined based on symptoms at a moment in time, and ignores the long-term burden of disease. The aims of this study were to select the attributes determining overall disease severity, to rank the importance of and to score these individual attributes for both CD and UC.Methods: Using a modified Delphi panel, 14 members of the International Organization for the Study of Inflammatory Bowel Diseases (IOIBD) selected the most important attributes related to IBD. Eighteen IOIBD members then completed a statistical exercise (conjoint analysis) to create a relative ranking of these attributes. Adjusted utilities were developed by creating proportions for each level within an attribute.Results: For CD, 15.8% of overall disease severity was attributed to the presence of mucosal lesions, 10.9% to history of a fistula, 9.7% to history of abscess and 7.4% to history of intestinal resection. For UC, 18.1% of overall disease severity was attributed to mucosal lesions, followed by 14.0% for impact on daily activities, 11.2% C reactive protein and 10.1% for prior experience with biologics. Overall disease severity indices were created on a 100-point scale by applying each attribute's average importance to the adjusted utilities.Conclusions: Based on specialist opinion, overall CD severity was associated more with intestinal damage, in contrast to overall UC disease severity, which was more dependent on symptoms and impact on daily life. Once validated, disease severity indices may provide a useful tool for consistent assessment of overall disease severity in patients with IBD.
  •  
32.
  • Tsartsalis, Athanasios N., et al. (författare)
  • Bone Metabolism Markers in Thalassemia Major-Induced Osteoporosis: Results from a Cross-Sectional Observational Study
  • 2019
  • Ingår i: Current molecular medicine. - : BENTHAM SCIENCE PUBL LTD. - 1566-5240 .- 1875-5666. ; 19:5, s. 335-341
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Thalassemia major (TM) patients eventually face many new health conditions, including endocrinopathies and low bone mineral density, usually observed in the aging general population. Objective: The aim of the current study was to evaluate the biomarkers of bone remodeling in TM patients and to compare them with both osteoporotic and healthy population, in order to investigate the new therapeutic paths. Methods: Sixty-four patients with TM (32 men and 32 women) participated in the study. The patients were evaluated with dual-energy X-ray absorptiometry (DXA) of the lumbar spine and femoral neck and with markers of bone remodeling including receptor activator of nuclear factor kappa-B ligand (RANKL), osteoprotegerin (OPG), C-terminal telopeptide (CTX), and sclerostin. Results were compared with those from 12 postmenopausal women with osteoporosis and 12 women with normal bone mineral density. Results: The statistical analysis of the biochemical markers of bone metabolism revealed overall significant differences between the three groups only for RANKL and OPG/RANKL (p=0.049 and p=0.009). RANKL was higher and OPG/RANKL was lower in TM patients compared to osteoporosis group. Conclusion: Patients with TM do not have a higher probability of suffering from osteoporosis from the general population. However, some markers of osteoclast activity differ between patients with TM and osteoporosis, indicating the possible differences in terms of anti-osteoporotic treatment. The lack of significant differences among the three groups in regards to the levels of CTX and sclerostin may indicate the potential efficacy of the current osteoporotic treatment also for TM patients.
  •  
33.
  • Tsoumas, Ioannis P., et al. (författare)
  • Analytical investigation of the startup transient in asynchronous motors with rotor asymmetry
  • 2016
  • Ingår i: Proceedings. - Piscataway, NU : Institute of Electrical and Electronics Engineers (IEEE). - 9781509025381 ; , s. 2861-2866
  • Konferensbidrag (refereegranskat)abstract
    • An analytical investigation of the current transient after switch-on at standstill of an induction motor with rotor asymmetry is carried out in the present work. The purpose of this investigation is the calculation of the different current components and their evolution, especially of those that can be used for the detection of the asymmetry. Since fault detection methods based on transient analysis use this component to detect the rotor asymmetry, the exact knowledge of its evolution as well as of the evolution of other transient components which may interfere or hinder the detection of the fault is of great importance.
  •  
34.
  • Tsoumas, Ioannis P., et al. (författare)
  • On the detectability of rotor asymmetries in induction motors from the start-up transient
  • 2017
  • Ingår i: 2017 IEEE 11th International Symposium on Diagnostics for Electrical Machines, Power Electronics and Drives (SDEMPED). - Piscataway, NJ : Institute of Electrical and Electronics Engineers (IEEE). - 9781509004096 ; , s. 31-37
  • Konferensbidrag (refereegranskat)abstract
    • A theoretical study of the electromechanical transient after switch-on at standstill of an induction motor with rotor asymmetry is carried out. Purpose of this study is to assess the influence of the motor parameters on the amplitude and the duration of the electrical and the mechanical transient. Subsequently the influence of the transient characteristics as well as of the applied current time-frequency analysis technique on the detectability of the rotor asymmetries is examined.
  •  
35.
  • Wessel, Jennifer, et al. (författare)
  • Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
  • 2015
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6
  • Tidskriftsartikel (refereegranskat)abstract
    • Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF = 1.4%) with lower FG (beta = -0.09 +/- 0.01 mmol l(-1), P = 3.4 x 10(-12)), T2D risk (OR[95% CI] = 0.86[0.76-0.96], P = 0.010), early insulin secretion (beta = -0.07 +/- 0.035 pmol(insulin) mmol(glucose)(-1), P = 0.048), but higher 2-h glucose (beta = 0.16 +/- 0.05 mmol l(-1), P = 4.3 x 10(-4)). We identify a gene-based association with FG at G6PC2 (p(SKAT) = 6.8 x 10(-6)) driven by four rare protein-coding SNVs (H177Y, Y207S, R283X and S324P). We identify rs651007 (MAF = 20%) in the first intron of ABO at the putative promoter of an antisense lncRNA, associating with higher FG (beta = 0.02 +/- 0.004 mmol l(-1), P = 1.3 x 10(-8)). Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility.
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