| 311. |
- Urayama, Kevin Y., et al.
(författare)
-
Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein-Barr Virus Status-Defined Subgroups
- 2012
-
Ingår i: Journal of the National Cancer Institute. - Oxford : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 104:3, s. 240-253
-
Tidskriftsartikel (refereegranskat)abstract
- Accumulating evidence suggests that risk factors for classical Hodgkin lymphoma (cHL) differ by tumor Epstein-Barr virus (EBV) status. This potential etiological heterogeneity is not recognized in current disease classification. We conducted a genome-wide association study of 1200 cHL patients and 6417 control subjects, with validation in an independent replication series, to identify common genetic variants associated with total cHL and subtypes defined by tumor EBV status. Multiple logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs) assuming a log-additive genetic model for the variants. All statistical tests were two-sided. Two novel loci associated with total cHL irrespective of EBV status were identified in the major histocompatibility complex region; one resides adjacent to MICB (rs2248462: OR = 0.61, 95% CI = 0.53 to 0.69, P = 1.3 x 10(-13)) and the other at HLA-DRA (rs2395185: OR = 0.56, 95% CI = 0.50 to 0.62, P = 8.3 x 10(-25)) with both results confirmed in an independent replication series. Consistent with previous reports, associations were found between EBV-positive cHL and genetic variants within the class I region (rs2734986, HLA-A: OR = 2.45, 95% CI = 2.00 to 3.00, P = 1.2 x 10(-15); rs6904029, HCG9: OR = 0.46, 95% CI = 0.36 to 0.59, P = 5.5 x 10(-10)) and between EBV-negative cHL and rs6903608 within the class II region (rs6903608, HLA-DRA: OR = 2.08, 95% CI = 1.84 to 2.35, P = 6.1 x 10(-31)). The association between rs6903608 and EBV-negative cHL was confined to the nodular sclerosis histological subtype. Evidence for an association between EBV-negative cHL and rs20541 (5q31, IL13: OR = 1.53, 95% CI = 1.32 to 1.76, P = 5.4 x 10(-9)), a variant previously linked to psoriasis and asthma, was observed; however, the evidence for replication was less clear. Notably, one additional psoriasis-associated variant, rs27524 (5q15, ERAP1), showed evidence of an association with cHL in the genome-wide association study (OR = 1.21, 95% CI = 1.10 to 1.33, P = 1.5 x 10(-4)) and replication series (P = .03). Overall, these results provide strong evidence that EBV status is an etiologically important classification of cHL and also suggest that some components of the pathological process are common to both EBV-positive and EBV-negative patients.
|
|
| 312. |
- Van Den Berg, F. D., et al.
(författare)
-
In-line Characterisation of Microstructure and Mechanical Properties in the Manufacturing of Steel Strip for the Purpose of Product Uniformity Control
- 2016
-
Ingår i: DGZfP-Proceedings BB 158. - 9783940283788
-
Konferensbidrag (refereegranskat)abstract
- The uniformity of the microstructure of steel strip over the entire coil length and between different coils of the same grade is key to stable and consistent material behaviour in steel manufacturers’ proprietary processes, like rolling and levelling, and customers’ processes, like pressing and deep-drawing. In particular for high-strength steels, like dual phase and complex phase steels, the microstructure is very sensitive to processing variations resulting in a potentially larger spread in the mechanical properties of the product. In July 2013, a large European consortium consisting of 15 institutes started an RFCS [1] – funded project called “Product Uniformity Control” (PUC) with the primary objective to achieve enhanced and sustained product uniformity of steel strip by improved interpretation of data from inline measurement methods that aim 2 for real-time and non-destructive characterisation of microstructure and technomechanical parameters. Commonly, these techniques are based on electromagnetic (EM) or ultrasonic (US) measurement principles, which are favoured because of their non-destructive and potentially contact-free nature. To improve the techniques for inline materials characterisation, the PUC consortium takes a systematic approach to investigate the interrelations between mechanical properties -- microstructural parameters -- EM & US properties -- inline measurement thereof. The studies involve dedicated laboratory experiments, modelling of the EM and US properties of steel, modelling of inline measurement setups and statistical analysis of data from inline measurement systems. The synthesis of these activities should result in improved, model-based, calibrations and finally in a broader deployment and integration of the inline material characterisation techniques in steel manufacturing, adding value to the product and enhancing the process efficiency throughout the production chain from hot-rolling to finishing. This paper outlines the project approach, highlights interconnecting modelling and experimental research work, and demonstrates first results. Various contributions being presented at this WCNDT conference originate from the collaborative activities of this PUC project.
|
|
| 313. |
|
|
| 314. |
- van den Berge, Simone A, et al.
(författare)
-
Longterm quiescent cells in the aged human subventricular neurogenic system specifically express GFAP-delta.
- 2010
-
Ingår i: Aging cell. - : Wiley. - 1474-9726 .- 1474-9718. ; 9:3, s. 313-326
-
Tidskriftsartikel (refereegranskat)abstract
- Summary A main neurogenic niche in the adult human brain is the subventricular zone (SVZ). Recent data suggest that the progenitors that are born in the human SVZ migrate via the rostral migratory stream (RMS) towards the olfactory bulb (OB), similar to what has been observed in other mammals. A subpopulation of astrocytes in the SVZ specifically expresses an assembly-compromised isoform of the intermediate filament protein glial fibrillary acidic protein (GFAP-delta). To further define the phenotype of these GFAP-delta expressing cells and to determine whether these cells are present throughout the human subventricular neurogenic system, we analysed SVZ, RMS and OB sections of 14 aged brain donors (ages 74-93). GFAP-delta was expressed in the SVZ along the ventricle, in the RMS and in the OB. The GFAP-delta cells in the SVZ co-expressed the neural stem cell (NSC) marker nestin and the cell proliferation markers proliferating cell nuclear antigen (PCNA) and Mcm2. Furthermore, BrdU retention was found in GFAP-delta positive cells in the SVZ. In the RMS, GFAP-delta was expressed in the glial net surrounding the neuroblasts. In the OB, GFAP-delta positive cells co-expressed PCNA. We also showed that GFAP-delta cells are present in neurosphere cultures that were derived from SVZ precursors, isolated postmortem from four brain donors (ages 63-91). Taken together, our findings show that GFAP-delta is expressed in an astrocytic subpopulation in the SVZ, the RMS and the OB. Importantly, we provide the first evidence that GFAP-delta is specifically expressed in longterm quiescent cells in the human SVZ, which are reminiscent of NSCs.
|
|
| 315. |
- van der Slot, W. M. A., et al.
(författare)
-
Pain in adults with cerebral palsy: A systematic review and meta-analysis of individual participant data
- 2021
-
Ingår i: Annals of Physical and Rehabilitation Medicine. - : Elsevier BV. - 1877-0657 .- 1877-0665. ; 64:3
-
Forskningsöversikt (refereegranskat)abstract
- Background: There is little focus on adults with cerebral palsy (CP) in research and health care and insufficient knowledge on how to identify and manage pain in this population. Objectives: This systematic review and meta-analysis aimed to determine whether pain prevalence in adults with CP is high and to explore variations in pain prevalence of subgroups, pain locations, pain severity and pain interference. Methods: Potential datasets were identified by experts in the field and literature searches in Embase, MEDLINE, and Cochrane, from January 2000 to October 2016. Included studies had a representative sample of >= 25 adults with CP and >= 1 pain outcomes. Methodological quality assessment, pain prevalence estimates and logistic regression models for subgroup effects on pain prevalence were conducted. Results: In total, 17 eligible studies were identified from 4584 publications. A meta-analysis was performed with individual participant data from 15 studies totalling 1243 participants (mean [SD] age 34.3 [12.6] years). Overall mean pain prevalence was 70% (95% CI 62-78). Women were more likely to have pain than men (P < 0.001). The odds of pain was increased in adults with gross motor function level II (odds ratio [OR] 1.92, 95% CI 1.22-3.12) and IV (OR 1.77, 95% CI 1.03-4.29). Participants with pain reported pain predominantly in the legs (76%, 95% CI 66-84), and mean pain severity was 3.7/10 (95% CI 2.7-4.7) and pain interference 3.5/10 (95% CI 2.5-4.5). Conclusions: This meta-analysis provides the first reliable pain prevalence estimate in a large international sample of adults with CP. The high prevalence of pain, 70%, suggests that adults with CP should be routinely screened for pain and treated accordingly. The range of measurement instruments used by the included studies emphasizes using common outcome measures specific to pain internationally. (C) C 2020 Elsevier Masson SAS. All rights reserved.
|
|
| 316. |
- van Doormaal, Perry T. C., et al.
(författare)
-
The role of de novo mutations in the development of amyotrophic lateral sclerosis
- 2017
-
Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 38:11, s. 1534-1541
-
Tidskriftsartikel (refereegranskat)abstract
- The genetic basis combined with the sporadic occurrence of amyotrophic lateral sclerosis (ALS) suggests a role of de novo mutations in disease pathogenesis. Previous studies provided some evidence for this hypothesis; however, results were conflicting: no genes with recurrent occurring de novo mutations were identified and different pathways were postulated. In this study, we analyzed whole-exome data from 82 new patient-parents trios and combined it with the datasets of all previously published ALS trios (173 trios in total). The per patient de novo rate was not higher than expected based on the general population (P = 0.40). We showed that these mutations are not part of the previously postulated pathways, and gene-gene interaction analysis found no enrichment of interacting genes in this group (P = 0.57). Also, we were able to show that the de novo mutations in ALS patients are located in genes already prone for de novo mutations (P < 1 x 10(-15)). Although the individual effect of rare de novo mutations in specific genes could not be assessed, our results indicate that, in contrast to previous hypothesis, de novo mutations in general do not impose a major burden on ALS risk.
|
|
| 317. |
- Wirdelius, Håkan, 1963, et al.
(författare)
-
Validation of models for Laser Ultrasonic spectra as a function of the grain size in steel
- 2018
-
Ingår i: 12th European Conference on Non-Destructive Testing (ECNDT 2018). - 9789163962172
-
Konferensbidrag (refereegranskat)abstract
- To reduce costs of production and increase economic sustainability it is necessary to introduce quality assessment in an early stage in the manufacturing process. In an ongoing European project (Product Uniformity Control – PUC), the intention is to use ultrasonic information to assess microstructure parameters that are related to macroscale qualities such as mechanical properties. Laser induced ultrasonic technique (LUS) requires no media and can generate and detect ultrasonic information at some distance from the component. This technique is therefore addressed within this project as a solution to measure ultrasonic properties in an industrial environment. Mathematical modelling of the ultrasonic wave propagation problem has been used in order to get a deeper understanding of the physics and to identify ultrasonic properties that can be used as an indirect measurement of grain size. The use of both analytical and numerical models enabled extensive parametric studies together with investigation of ultrasonic interactions with well-defined individual microstructures. The LUS technique has previously been applied to e.g. monitor grain growth during thermomechanical processing of metals. These applications identified and used a correlation with the frequency content of the attenuation. This have been investigated as a possible indirect measurement of grain size, also in this project. The models have been used to verify the correlations and to evaluate different procedures that could be applied as an industrial solution. The suggested procedure is based on deconvolving two successive echoes and has been experimentally validated by two different LUS systems. The reference samples used in the validation were produced by changing the annealing temperature and time to obtain a variation in grain sizes. These grain sizes were then identified by EBSD and the samples were examined in terms of grain size influence on spectral attenuation
|
|
| 318. |
|
|
| 319. |
- Amundadottir, Laufey, et al.
(författare)
-
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.
- 2009
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 41, s. 986-990
-
Tidskriftsartikel (refereegranskat)abstract
- We conducted a two-stage genome-wide association study of pancreatic cancer, a cancer with one of the lowest survival rates worldwide. We genotyped 558,542 SNPs in 1,896 individuals with pancreatic cancer and 1,939 controls drawn from 12 prospective cohorts plus one hospital-based case-control study. We conducted a combined analysis of these groups plus an additional 2,457 affected individuals and 2,654 controls from eight case-control studies, adjusting for study, sex, ancestry and five principal components. We identified an association between a locus on 9q34 and pancreatic cancer marked by the SNP rs505922 (combined P = 5.37 x 10(-8); multiplicative per-allele odds ratio 1.20; 95% confidence interval 1.12-1.28). This SNP maps to the first intron of the ABO blood group gene. Our results are consistent with earlier epidemiologic evidence suggesting that people with blood group O may have a lower risk of pancreatic cancer than those with groups A or B.
|
|
| 320. |
|
|
