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Sökning: WFRF:(Sanz N) > (2010-2014)

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  • Kiemeney, Lambertus A, et al. (författare)
  • A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
  • 2010
  • Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:5, s. 415-9
  • Tidskriftsartikel (refereegranskat)abstract
    • Previously, we reported germline DNA variants associated with risk of urinary bladder cancer (UBC) in Dutch and Icelandic subjects. Here we expanded the Icelandic sample set and tested the top 20 markers from the combined analysis in several European case-control sample sets, with a total of 4,739 cases and 45,549 controls. The T allele of rs798766 on 4p16.3 was found to associate with UBC (odds ratio = 1.24, P = 9.9 x 10(-12)). rs798766 is located in an intron of TACC3, 70 kb from FGFR3, which often harbors activating somatic mutations in low-grade, noninvasive UBC. Notably, rs798766[T] shows stronger association with low-grade and low-stage UBC than with more aggressive forms of the disease and is associated with higher risk of recurrence in low-grade stage Ta tumors. The frequency of rs798766[T] is higher in Ta tumors that carry an activating mutation in FGFR3 than in Ta tumors with wild-type FGFR3. Our results show a link between germline variants, somatic mutations of FGFR3 and risk of UBC.
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  • Lindqvist, Camilla, 1985, et al. (författare)
  • Fullerene Nucleating Agents: A Route Towards Thermally Stable Photovoltaic Blends
  • 2014
  • Ingår i: Advanced Energy Materials. - : Wiley. - 1614-6840 .- 1614-6832. ; 4:9, s. 1301437-
  • Tidskriftsartikel (refereegranskat)abstract
    • The bulk-heterojunction nanostructure of non-crystalline polymer: fullerene blends has the tendency to rapidly coarsen when heated above its glass transition temperature, which represents an important degradation mechanism. We demonstrate that fullerene nucleating agents can be used to thermally arrest the nanostructure of photovoltaic blends that comprise a non-crystalline thiophene-quinoxaline copolymer and the widely used fullerene derivative [6,6]-phenyl-C-61-butyric acid methyl ester (PCBM). To this end, C-60 fullerene is employed to efficiently nucleate PCBM crystallization. Sub-micrometer-sized fullerene crystals are formed when as little as 2 wt% C-60 with respect to PCBM is added to the blend. These reach an average size of only 200 nanometers upon introduction of more than 8 wt% C-60. Solar cells based on C-60-nucleated blends indicate significantly improved thermal stability of the bulk-heterojunction nanostructure even after annealing at an elevated temperature of 130 degrees C, which lies above the glass transition temperature of the blend. Moreover, we find that various other compounds, including C-70 fullerene, single-walled carbon nanotubes, and sodium benzoate, as well as a number of commercial nucleating agents-commonly used to clarify isotactic polypropylene-permit to control crystallization of the fullerene phase.
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  • Mattheos, N., et al. (författare)
  • Developing implant dentistry education in Europe : the continuum from undergraduate to postgraduate education and continuing professional development
  • 2014
  • Ingår i: European journal of dental education. - : John Wiley & Sons. - 1396-5883 .- 1600-0579. ; 18:S1, s. 4-10
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Implant dentistry is a treatment modality which has mainstream clinical practice of comprehensive care, which however is not adequately represented in the undergraduate dental curricula. A consensus workshop organised by ADEE in 2008, set the benchmarks for the knowledge and competences a modern dental practitioner must possess with regard to implant dentistry, as well as defined undergraduate and postgraduate pathways for the acquisition of these competences. Today, 5 years later, there exist several challenges for the implementation of these benchmarks in both undergraduate curricula but also post-graduation educational pathways. Methods: A consensus workshop was organised by ADEE, bringing together 48 opinion leaders, including academic teachers of all disciplines related to implant dentistry, specialists, representatives of relevant scientific and professional associations, as well as industry delegates. The objectives of the workshop were to evaluate the existing scientific literature, reported experience and best practices in order to identify potential and limitations for the implementation of implant dentistry in the undergraduate curriculum, as well produce recommendations for the optimal educational structures for postgraduate programmes and continuing professional development. Results: The scientific committee conducted two European-wide questionnaire surveys to better document the current state of education in implant dentistry. Upon completion of the surveys, reviewers were appointed to produce three scientific review papers, identifying current achievements and future challenges. Finally, during the 3 days of the workshop, all the evidence was reviewed and the main conclusions and recommendations that were adopted by all participants are reported in the present Consensus Paper. Conclusions: Implementation of implant dentistry in the undergraduate curriculum has improved significantly, but still lags behind the benchmarks set in 2008 and the diversity between institutions remains big. At the post-graduation level, there is currently a wide diversity of courses and pathways towards competences related to implant dentistry and there is at present a great need for quality assurance, as well as standardisation and transparency of the learning outcomes.
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  • Alberts, D., et al. (författare)
  • In-depth profile analysis of filled alumina and titania nanostructured templates by radiofrequency glow discharge coupled to optical emission spectrometry
  • 2010
  • Ingår i: Analytical and Bioanalytical Chemistry. - : Springer Science and Business Media LLC. - 1618-2642 .- 1618-2650. ; 396:8, s. 2833-2840
  • Tidskriftsartikel (refereegranskat)abstract
    • The development of highly ordered and self-assembled magnetic nanostructures such as arrays of Fe or Ni nanowires and their alloys is arousing increasing interest due to the peculiar magnetic properties of such materials at the nanoscale. These nanostructures can be fabricated using nanoporous anodic alumina membranes or self-assembled nanotubular titanium dioxide as templates. The chemical characterization of the nanostructured layers is of great importance to assist the optimization of the filling procedure or to determine their manufacturing quality. Radiofrequency glow discharge (RF-GD) coupled to optical emission spectrometry (OES) is a powerful tool for the direct analysis of either conducting or insulating materials and to carry out depth profile analysis of thin layers by multi-matrix calibration procedures. Thus, the capability of RF-GD-OES is investigated here for the in-depth quantitative analysis of self-aligned titania nanotubes and self-ordered nanoporous alumina filled with arrays of metallic and magnetic nanowires obtained using the template-assisted filling method. The samples analysed in this work consisted of arrays of Ni nanowires with different lengths (from 1.2 up to 5 μm) and multilayer nanowires of alternating layers with different thicknesses (of 1-2 μm) of Ni and Au, or Au and FeNi alloy, deposited inside the alumina and titania membranes. Results, compared with other techniques such as scanning electron microscopy and energy-dispersive X-ray spectroscopy, show that the RF-GD-OES surface analysis technique proves to be adequate and promising for this challenging application. © 2009 Springer-Verlag.
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9.
  • Ballantyne, Kaye N., et al. (författare)
  • Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
  • 2014
  • Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 35:8, s. 1021-1032
  • Tidskriftsartikel (refereegranskat)abstract
    • Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
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10.
  • Bullinger, M., et al. (författare)
  • Cross-Cultural Equivalence of the Patient- and Parent-Reported Quality of Life in Short Stature Youth (QoLISSY) Questionnaire
  • 2014
  • Ingår i: Hormone Research in Paediatrics. - : S. Karger AG. - 1663-2818 .- 1663-2826. ; 82:1, s. 18-30
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Testing cross-cultural equivalence of patient-reported outcomes requires sufficiently large samples per country, which is difficult to achieve in rare endocrine paediatric conditions. We describe a novel approach to cross-cultural testing of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire in five countries by sequentially taking one country out (TOCO) from the total sample and iteratively comparing the resulting psychometric performance. METHODS: Development of the QoLISSY proceeded from focus group discussions through pilot testing to field testing in 268 short-statured patients and their parents. To explore cross-cultural equivalence, the iterative TOCO technique was used to examine and compare the validity, reliability, and convergence of patient and parent responses on QoLISSY in the field test dataset, and to predict QoLISSY scores from clinical, socio-demographic and psychosocial variables. RESULTS: Validity and reliability indicators were satisfactory for each sample after iteratively omitting one country. Comparisons with the total sample revealed cross-cultural equivalence in internal consistency and construct validity for patients and parents, high inter-rater agreement and a substantial proportion of QoLISSY variance explained by predictors. CONCLUSION: The TOCO technique is a powerful method to overcome problems of country-specific testing of patient-reported outcome instruments. It provides an empirical support to QoLISSY's cross-cultural equivalence and is recommended for future research. (c) 2014 S. Karger AG, Basel.
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