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Sökning: WFRF:(Wauters E)

  • Resultat 11-20 av 27
  • Föregående 1[2]3Nästa
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11.
  • Haiman, Christopher A., et al. (författare)
  • A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer
  • 2011
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1546-1718. ; 43:12, s. 61-1210
  • Tidskriftsartikel (refereegranskat)abstract
    • Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 x 10(-10)). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 x 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 x 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.
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12.
  • Theuns, J., et al. (författare)
  • Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease
  • 2014
  • Ingår i: Neurology. - : American Academy of Neurology. - 1526-632X. ; 83:21, s. 13-1906
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVES: The objective of this study is to clarify the role of (G4C2)n expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson's Disease (GEO-PD) cohort. METHODS: C9orf72 (G4C2)n repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia. RESULTS: A pathogenic (G4C2)n>60 expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G4C2)n repeats; however, we could not detect a robust association between the C9orf72 (G4C2)n repeat and PD, and the population attributable risk was low. CONCLUSIONS: Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease.
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13.
  • Patel, Riyaz S., et al. (författare)
  • Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events : A GENIUS-CHD Study of Individual Participant Data
  • 2019
  • Ingår i: Circulation. - 2574-8300. ; 12:4
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Genetic variation at chromosome 9p21 is a recognized risk factor for coronary heart disease (CHD). However, its effect on disease progression and subsequent events is unclear, raising questions about its value for stratification of residual risk.METHODS: A variant at chromosome 9p21 (rs1333049) was tested for association with subsequent events during follow-up in 103 357 Europeans with established CHD at baseline from the GENIUS-CHD (Genetics of Subsequent Coronary Heart Disease) Consortium (73.1% male, mean age 62.9 years). The primary outcome, subsequent CHD death or myocardial infarction (CHD death/myocardial infarction), occurred in 13 040 of the 93 115 participants with available outcome data. Effect estimates were compared with case/control risk obtained from the CARDIoGRAMplusC4D consortium (Coronary Artery Disease Genome-wide Replication and Meta-analysis [CARDIoGRAM] plus The Coronary Artery Disease [C4D] Genetics) including 47 222 CHD cases and 122 264 controls free of CHD.RESULTS: Meta-analyses revealed no significant association between chromosome 9p21 and the primary outcome of CHD death/myocardial infarction among those with established CHD at baseline (GENIUSCHD odds ratio, 1.02; 95% CI, 0.99-1.05). This contrasted with a strong association in CARDIoGRAMPlusC4D odds ratio 1.20; 95% CI, 1.18-1.22; P for interaction < 0.001 compared with the GENIUS-CHD estimate. Similarly, no clear associations were identified for additional subsequent outcomes, including all-cause death, although we found a modest positive association between chromosome 9p21 and subsequent revascularization (odds ratio, 1.07; 95% CI, 1.04-1.09).CONCLUSIONS: In contrast to studies comparing individuals with CHD to disease-free controls, we found no clear association between genetic variation at chromosome 9p21 and risk of subsequent acute CHD events when all individuals had CHD at baseline. However, the association with subsequent revascularization may support the postulated mechanism of chromosome 9p21 for promoting atheroma development.
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15.
  • Coda, S., et al. (författare)
  • Overview of the TCV tokamak program : Scientific progress and facility upgrades
  • 2017
  • Ingår i: Nuclear Fusion. - : Institute of Physics Publishing. - 0029-5515 .- 1741-4326. ; 57:10
  • Tidskriftsartikel (refereegranskat)abstract
    • The TCV tokamak is augmenting its unique historical capabilities (strong shaping, strong electron heating) with ion heating, additional electron heating compatible with high densities, and variable divertor geometry, in a multifaceted upgrade program designed to broaden its operational range without sacrificing its fundamental flexibility. The TCV program is rooted in a three-pronged approach aimed at ITER support, explorations towards DEMO, and fundamental research. A 1 MW, tangential neutral beam injector (NBI) was recently installed and promptly extended the TCV parameter range, with record ion temperatures and toroidal rotation velocities and measurable neutral-beam current drive. ITER-relevant scenario development has received particular attention, with strategies aimed at maximizing performance through optimized discharge trajectories to avoid MHD instabilities, such as peeling-ballooning and neoclassical tearing modes. Experiments on exhaust physics have focused particularly on detachment, a necessary step to a DEMO reactor, in a comprehensive set of conventional and advanced divertor concepts. The specific theoretical prediction of an enhanced radiation region between the two X-points in the low-field-side snowflake-minus configuration was experimentally confirmed. Fundamental investigations of the power decay length in the scrape-off layer (SOL) are progressing rapidly, again in widely varying configurations and in both D and He plasmas; in particular, the double decay length in L-mode limited plasmas was found to be replaced by a single length at high SOL resistivity. Experiments on disruption mitigation by massive gas injection and electron-cyclotron resonance heating (ECRH) have begun in earnest, in parallel with studies of runaway electron generation and control, in both stable and disruptive conditions; a quiescent runaway beam carrying the entire electrical current appears to develop in some cases. Developments in plasma control have benefited from progress in individual controller design and have evolved steadily towards controller integration, mostly within an environment supervised by a tokamak profile control simulator. TCV has demonstrated effective wall conditioning with ECRH in He in support of the preparations for JT-60SA operation.
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16.
  • de Ridder, Lissy, et al. (författare)
  • Malignancy and Mortality in Pediatric Patients with Inflammatory Bowel Disease : A Multinational Study from the Porto Pediatric IBD Group
  • 2014
  • Ingår i: Inflammatory Bowel Diseases. - 1078-0998 .- 1536-4844. ; 20:2, s. 291-300
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: The combination of the severity of pediatric-onset inflammatory bowel disease (IBD) phenotypes and the need for intense medical treatment may increase the risk of malignancy and mortality, but evidence regarding the extent of the problem is scarce. Therefore, the Porto Pediatric IBD working group of ESPGHAN conducted a multinational-based survey of cancer and mortality in pediatric IBD. Methods: A survey among pediatric gastroenterologists of 20 European countries and Israel on cancer and/or mortality in the pediatric patient population with IBD was undertaken. One representative from each country repeatedly contacted all pediatric gastroenterologists from each country for reporting retrospectively cancer and/or mortality of pediatric patients with IBD after IBD onset, during 2006-2011. Results: We identified 18 cases of cancers and/or 31 deaths in 44 children (26 males) who were diagnosed with IBD (ulcerative colitis, n = 21) at a median age of 10.0 years (inter quartile range, 3.0-14.0). Causes of mortality were infectious (n = 14), cancer (n = 5), uncontrolled disease activity of IBD (n = 4), procedure-related (n = 3), other non-IBD related diseases (n = 3), and unknown (n = 2). The most common malignancies were hematopoietic tumors (n = 11), of which 3 were hepatosplenic T-cell lymphoma and 3 Ebstein-Barr virus-associated lymphomas. Conclusions: Cancer and mortality in pediatric IBD are rare, but cumulative rates are not insignificant. Mortality is primarily related to infections, particularly in patients with 2 or more immunosuppressive agents, followed by cancer and uncontrolled disease. At least 6 lymphomas were likely treatment-associated by virtue of their phenotype.
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17.
  • Marco, Aitor, et al. (författare)
  • A Variable Structure Control Scheme Proposal for the Tokamak a Configuration Variable
  • 2019
  • Ingår i: Complexity. - : Hindawi Publishing Corporation. - 1076-2787 .- 1099-0526.
  • Tidskriftsartikel (refereegranskat)abstract
    • Fusion power is the most significant prospects in the long-term future of energy in the sense that it composes a potentially clean, cheap, and unlimited power source that would substitute the widespread traditional nonrenewable energies, reducing the geographical dependence on their sources as well as avoiding collateral environmental impacts. Although the nuclear fusion research started in the earlier part of 20th century and the fusion reactors have been developed since the 1950s, the fusion reaction processes achieved have not yet obtained net power, since the generated plasma requires more energy to achieve and remain in necessary particular pressure and temperature conditions than the produced profitable energy. For this purpose, the plasma has to be confined inside a vacuum vessel, as it is the case of the Tokamak reactor, which consists of a device that generates magnetic fields within a toroidal chamber, being one of the most promising solutions nowadays. However, the Tokamak reactors still have several issues such as the presence of plasma instabilities that provokes a decay of the fusion reaction and, consequently, a reduction in the pulse duration. In this sense, since long pulse reactions are the key to produce net power, the use of robust and fast controllers arises as a useful tool to deal with the unpredictability and the small time constant of the plasma behavior. In this context, this article focuses on the application of robust control laws to improve the controllability of the plasma current, a crucial parameter during the plasma heating and confinement processes. In particular, a variable structure control scheme based on sliding surfaces, namely, a sliding mode controller (SMC) is presented and applied to the plasma current control problem. In order to test the validity and goodness of the proposed controller, its behavior is compared to that of the traditional PID schemes applied in these systems, using the RZIp model for the Tokamak a Configuration Variable (TCV) reactor. The obtained results are very promising, leading to consider this controller as a strong candidate to enhance the performance of the PID-based controllers usually employed in this kind of systems.
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18.
  • Sakornsakolpat, Phuwanat, et al. (författare)
  • Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
  • 2019
  • Ingår i: Nature Genetics. - 1061-4036 .- 1546-1718. ; 51:3, s. 494-505
  • Tidskriftsartikel (refereegranskat)abstract
    • Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association study in 35,735 cases and 222,076 controls from the UK Biobank and additional studies from the International COPD Genetics Consortium. We identified 82 loci associated with P < 5 x 10-8; 47 of these were previously described in association with either COPD or population-based measures of lung function. Of the remaining 35 new loci, 13 were associated with lung function in 79,055 individuals from the SpiroMeta consortium. Using gene expression and regulation data, we identified functional enrichment of COPD risk loci in lung tissue, smooth muscle, and several lung cell types. We found 14 COPD loci shared with either asthma or pulmonary fibrosis. COPD genetic risk loci clustered into groups based on associations with quantitative imaging features and comorbidities. Our analyses provide further support for the genetic susceptibility and heterogeneity of COPD.
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20.
  • Moiseenko, V. E., et al. (författare)
  • Stellator research at IPP KIPT : Status and prospects
  • 2019
  • Ingår i: PROBLEMS OF ATOMIC SCIENCE AND TECHNOLOGY. - : KHARKOV INST PHYSICS & TECHNOLOGY. - 1562-6016. ; :1, s. 3-8
  • Tidskriftsartikel (refereegranskat)abstract
    • Features of the recent Uragan-2M campaign are reviewed together with some theoretical advances. They include experiments with B4C limiter, studies of various 1. . . 20 kHz oscillations, development of a new in-situ diagnostics for wall conditions, i.e. the thermal desorption probe, the improved numerical model of RF plasma production in stellarators in the ion cyclotron and electron-cyclotron frequency ranges, a new positive-definite form of time-harmonic Maxwell's equations and plasma start-up studies.
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  • Resultat 11-20 av 27
  • Föregående 1[2]3Nästa

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