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- Berndt, Sonja I., et al.
(författare)
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Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:8, s. 868-U202
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P = 1.22 x 10(-14)), 18q21.33 (BCL2, P = 7.76 x 10(-11)), 11p15.5 (C11orf21, P = 2.15 x 10(-10)), 4q25 (LEF1, P = 4.24 x 10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P = 2.50 x 10(-9)), 9p21.3 (CDKN2B-AS1, P = 1.27 x 10(-8)), 18q21.32 (PMAIP1, P = 2.51 x 10(-8)), 15q15.1 (BMF, P = 2.71 x 10(-10)) and 2p22.2 (QPCT, P = 1.68 x 10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P = 2.08 x 10(-18)). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P = 5.40 x 10(-8)) and 5p15.33 (TERT, P = 1.92 x 10(-7)). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.
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- Berndt, Sonja I., et al.
(författare)
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Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P = 2.55 x 10(-11)), 6p25.2 (rs73718779, SERPINB6, P = 1.97 x 10(-8)) and 3q28 (rs9815073, LPP, P = 3.62 x 10(-8)), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P = 1.00 x 10(-11)) in the combined analysis. We find suggestive evidence (P<5 x 10(-7)) for two additional new loci at 4q24 (rs10028805, BANK1, P = 7.19 x 10(-8)) and 3p22.2 (rs1274963, CSRNP1, P = 2.12 x 10(-7)). Pathway analyses of new and known CLL loci consistently show a strong role for apoptosis, providing further evidence for the importance of this biological pathway in CLL susceptibility.
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- Conde, Lucia, et al.
(författare)
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Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:8, s. 661-664
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Tidskriftsartikel (refereegranskat)abstract
- To identify susceptibility loci for non-Hodgkin lymphoma subtypes, we conducted a three-stage genome-wide association study. We identified two variants associated with follicular lymphoma at 6p21.32 (rs10484561, combined P = 1.12 x 10(-29) and rs7755224, combined P = 2.00 x 10(-19); r(2) = 1.0), supporting the idea that major histocompatibility complex genetic variation influences follicular lymphoma susceptibility. We also found confirmatory evidence of a previously reported association between chronic lymphocytic leukemia/small lymphocytic lymphoma and rs735665 (combined P = 4.24 x 10(-9)).
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- Gil-Campos, Mercedes, et al.
(författare)
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Association of Diet, Physical Activity Guidelines and Cardiometabolic Risk Markers in Children
- 2021
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Ingår i: Nutrients. - : MDPI. - 2072-6643. ; 13:9
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Tidskriftsartikel (refereegranskat)abstract
- The aim was to identify different dietary and physical activity (PA) patterns in 5- to 14-year-old children with a high prevalence of overweight and obesity using cluster analysis based on their adherence to the Spanish Society of Community Nutrition dietary guidelines and levels of PA, and to determine their associations with age, sex, body composition, and cardiometabolic risk markers. In 549 children, hierarchical cluster analysis was used to identify subgroups with similar adherence to dietary recommendations and level of PA. Three clusters were identified: Cluster 1, with the lowest level of vigorous PA and adherence to dietary recommendations; Cluster 2, with the lowest levels of moderate and vigorous PA and the highest adherence to dietary recommendations; and Cluster 3, with the highest level of PA, especially vigorous PA and a medium level adherence to dietary recommendations. Cluster 3 had lower total body fat and higher lean body mass percentages than Cluster 2. Cluster 2 had lower high-density lipoprotein cholesterol and higher low-density lipoprotein cholesterol levels than Cluster 1. The results from our study suggest that it is important to consider adherence to PA recommendations together with adherence to dietary guidelines to understand patterns of obesogenic habits in pediatric populations with high prevalence of overweight and obesity.
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- Goodman, Daisy, et al.
(författare)
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Explanation and elaboration of the SQUIRE (Standards for Quality Improvement Reporting Excellence) Guidelines, V.2.0 : Examples of SQUIRE elements in the healthcare improvement literature
- 2016
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Ingår i: BMJ Quality and Safety. - : BMJ. - 2044-5415 .- 2044-5423. ; 25:12
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Tidskriftsartikel (refereegranskat)abstract
- Since its publication in 2008, SQUIRE (Standards for Quality Improvement Reporting Excellence) has contributed to the completeness and transparency of reporting of quality improvement work, providing guidance to authors and reviewers of reports on healthcare improvement work. In the interim, enormous growth has occurred in understanding factors that influence the success, and failure, of healthcare improvement efforts. Progress has been particularly strong in three areas: the understanding of the theoretical basis for improvement work; the impact of contextual factors on outcomes; and the development of methodologies for studying improvement work. Consequently, there is now a need to revise the original publication guidelines. To reflect the breadth of knowledge and experience in the field, we solicited input from a wide variety of authors, editors and improvement professionals during the guideline revision process. This Explanation and Elaboration document (E&E) is a companion to the revised SQUIRE guidelines, SQUIRE 2.0. The product of collaboration by an international and interprofessional group of authors, this document provides examples from the published literature, and an explanation of how each reflects the intent of a specific item in SQUIRE. The purpose of the guidelines is to assist authors in writing clearly, precisely and completely about systematic efforts to improve the quality, safety and value of healthcare services. Authors can explore the SQUIRE statement, this E&E and related documents in detail at http://www.squire-statement.org.
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- Hernandez-Cerdan, Pablo, et al.
(författare)
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Structural Analysis of Polysaccharide Networks by Transmission Electron Microscopy : Comparison with Small-Angle X-ray Scattering
- 2018
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Ingår i: Biomacromolecules. - : American Chemical Society (ACS). - 1525-7797 .- 1526-4602. ; 19:3, s. 989-995
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Tidskriftsartikel (refereegranskat)abstract
- Polysaccharide gels assembled from the anionic biopolymers pectin and carrageenan have been studied using transmission electron microscopy (TEM). Gels were formed in several different ways: for pectin, hydrogen bonding was used to form junction zones between strands, whereas for carrageenan systems, several different ion types were used to form ionotropic networks. Using this approach, several distinct network architectures were realized. In addition to preparing gelled samples for electron microscopy, a set of samples was taken without performing the additional treatment necessitated by the TEM measurements, and these were studied directly by small-angle X-ray scattering (SAXS). Taking careful consideration of the relative merits of different image sizes and available processing techniques, the real-space images acquired by TEM were used via radial integration of the Fourier transform to produce simulated scattering patterns. These intensity-versus-wavevector plots were compared with the results of SAXS experiments carried out on the unadulterated gels using synchrotron radiation. Although information regarding chain thicknesses and flexibilities was found to be modified by labeling and changes in the dielectric constant and mechanical properties of the surroundings in the TEM, the studies carried out here show that careful protocols can produce data sets where information acquired above ∼20 nm is broadly consistent with that obtained by SAXS studies carried out on unadulterated samples. The fact that at larger length scale the structure of these water-rich networks seems largely preserved in the TEM samples suggests that three-dimensional (3D) TEM tomography experiments carried out with careful sample preparation will be valuable tools for measuring network architecture and connectivity; information that is lost in SAXS owing to the intrinsic averaging nature of the technique.
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| 10. |
- Leis, J, et al.
(författare)
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Carbon nanostructures produced by chlorinating aluminium carbide
- 2001
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Ingår i: Carbon. - 0008-6223 .- 1873-3891. ; 39:13, s. 2043-2048
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Tidskriftsartikel (refereegranskat)abstract
- A number of carbon samples with different nanostructures such as: amorphous, nanoparticles and turbostratic, were synthesised through the reaction between aluminium carbide and gaseous chlorine at fixed temperatures between 300 and 900 degreesC. The synthesised carbon samples were characterised using high-resolution transmission electron microscopy and X-ray powder diffraction techniques, as well as low temperature nitrogen sorption measurements. The carbon produced at T=300 degreesC was amorphous with a surface area of similar to 1400 m(2) g(-1). At 700 degreesC, a large amount of carbon nanoparticles and with a lower surface area similar to 710 m(2) g(-1) was obtained. At 900 degreesC, mainly a turbostratic carbon with a surface area of similar to 680 m(2) g(-1) was produced.
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| 11. |
- Leis, J, et al.
(författare)
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Catalytic effects of metals of the iron subgroup on the chlorination of titanium carbide to form nanostructural carbon
- 2002
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Ingår i: Carbon. - 0008-6223 .- 1873-3891. ; 40:9, s. 1559-1564
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Tidskriftsartikel (refereegranskat)abstract
- The effect of the reaction temperature and the metals of an iron subgroup on the thermo-chemical treatment of titanium carbide with a chlorine gas and their influence on the carbon structure obtained thereby was studied. Different analytical methods such as porosity measure me tits, X-ray diffraction spectrometry and a high-resolution electron microscopy revealed the catalytic behaviour of the above-mentioned metals. which appeared to support the formation of graphitised carbon at much lower temperatures compared to those needed for the ordinary thermo-chemical chlorination of titanium carbide.
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| 12. |
- Mansel, Bradley W., et al.
(författare)
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Zooming in : Structural Investigations of Rheologically Characterized Hydrogen-Bonded Low-Methoxyl Pectin Networks
- 2015
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Ingår i: Biomacromolecules. - : American Chemical Society (ACS). - 1525-7797 .- 1526-4602. ; 16:10, s. 3209-3216
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Tidskriftsartikel (refereegranskat)abstract
- Self-assembled hydrogen-bonded networks of the polysaccharide pectin, a mechanically functional component of plant cell walls, have been of recent interest as biomimetic exemplars of physical gels, and the microrheological and strain-stiffening behaviors have been previously investigated. Despite this detailed rheological characterization of preformed gels, little is known about the fundamental arrangement of the polymers into cross-linking junction zones, the size of these bonded regions, and the resultant network architecture in these hydrogen-bonded materials, especially in contrast to the plethora of such information available for their well-known calcium-assembled counterparts. In this work, in concert with pertinent rheological measurements, an in-depth structural study of the hydrogen-bond-mediated gelation of pectins is provided. Gels were realized by using glucona-delta-lactone to decrease the pH of solutions of pectic polymers that had a (blockwise) low degree of methylesterification. Small-angle X-ray scattering and transmission electron microscopy were utilized to access structural information on length scales on the order of nanometers to hundreds of nanometers, while complementary mechanical properties were measured predominantly using small amplitude oscillatory shear rheology.
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