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- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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| 4. |
- Gatica-Ortega, María Elena, et al.
(författare)
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Contact dermatitis from glucose sensors in Spain : A multicentric approach
- 2021
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Ingår i: Contact Dermatitis. - : Wiley. - 0105-1873 .- 1600-0536. ; 85:5, s. 554-562
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Tidskriftsartikel (refereegranskat)abstract
- Background: Allergic contact dermatitis from glucose sensors may interfere with their ongoing application. Objective: To evaluate a series of Spanish patients with contact dermatitis to glucose sensors regarding former sources of contact allergens, patch test results, and outcomes from the ongoing use of the device. Methods: A series of patients with contact dermatitis from glucose sensors was investigated in eight dermatology departments across Spain (epidemiological features, brands, latency time to develop dermatitis, the ability to continue using the devices as well as the patch test results). Results: Thirty patients were evaluated (mean age 20.9 years). A total of 66.7% were children and 66.7% female. Ninety per cent used Freestyle Libre (FSL). Eight of 26 (30.8%) reacted to isobornyl acrylate (IBOA) and two of 20 (10.0%) to N,N dimethylacrylamide (DMAA). The mean latency time to develop dermatitis was 9 months. Sixteen of 29 (55.2%) patients continued using the same sensor causing the reaction. Thirteen of 29 (44.8%) patients were unable to continue using the sensor because of severe reactions. Of these, five were positive to IBOA, one to IBOA and DMAA, one to DMAA, one to colophony, and one to isopropyl alcohol wipes. In one patient, the outcome was unknown. Conclusion: The frequency of sensitisation to IBOA and DMAA, was lower than in other European series, but similar to a previously published Spanish article. Legislation requiring manufacturers to provide information regarding the composition of medical devices and cooperate with the investigations into contact dermatitis is urgently needed.
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| 5. |
- Martinez, MN, et al.
(författare)
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Grado de conocimientos y actitudes de la enfermería de la Comunidad Autónoma de Madrid (CAM) ante el dolor: Diplomados en enfermería y profesionales
- 2012
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Ingår i: Revista de la Sociedad Española del Dolor. - 1134-8046 .- 2254-6189. ; 19:6, s. 293-300
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Tidskriftsartikel (refereegranskat)abstract
- The pain has become the fifth vital sign and is now a critical issue in patient care. Effective treatment of it is still one of the most important and urgent health care system in developed countries worldwide. While pain in patients is a very in vogue these days, however, which is unchallenged is the education of future nursing professionals in the care of such patients. The study and treatment of pain should be instilled in nursing students in their training, both theoretical and practical. The work is very important that teachers also take on the subject. The challenge for the nursing profession in this field would you organize, structure and support a program involving the activation of educational programs for students and practicing nurses. To start our research we made an analysis on the one hand, the current curricula of different schools of nursing in the CAM, with subjects with pain content, analyzing the similarity or not between them, the treated sections, etc. all this curriculum outline compared to the IASP (International Association of Study of Pain) proposed for nursing studies and, secondly, we describe the knowledge and attitudes of both groups in nursing to pain, both professional and qualified nurses. To observe the degree of knowledge and attitudes towards pain in both groups, was introduced as a tool the NKAS-RP (Nurses' Knowledge and Attitudes Survey Regarding Pain). The working group is proposed, therefore, three general objectives: The first description of the curricula of the courses in the career of nursing content in pain, and el2 and 3 goals, define the knowledge and attitudes to pain nursing students and nurses of the CAM. This is a descriptive, observational, multicenter, randomized, which analyzes the current knowledge and attitudes of the nursing staff, both among students (future graduates in nursing) and among professionals. Was carried out between 2008 and 2010, used to publicize the results of the statistical package SPSS version 17.0. As results were obtained, as in previous studies, worldwide, a poor knowledge of pain and a bad attitude before that symptom. It is proposed to improve: in the case of students, changes in the curriculum of the Diploma (future degree) nurses, and in the case of professionals, continuing education and refresher courses in that subject.
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- Mehta, Raghav, et al.
(författare)
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QU-BraTS : MICCAI BraTS 2020 Challenge on QuantifyingUncertainty in Brain Tumor Segmentation - Analysis of Ranking Scores and Benchmarking Results
- 2022
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Ingår i: Journal of Machine Learning for Biomedical Imaging. - 2766-905X. ; , s. 1-54
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Tidskriftsartikel (refereegranskat)abstract
- Deep learning (DL) models have provided the state-of-the-art performance in a wide variety of medical imaging benchmarking challenges, including the Brain Tumor Segmentation (BraTS) challenges. However, the task of focal pathology multi-compartment segmentation (e.g., tumor and lesion sub-regions) is particularly challenging, and potential errors hinder the translation of DL models into clinical workflows. Quantifying the reliability of DL model predictions in the form of uncertainties, could enable clinical review of the most uncertain regions, thereby building trust and paving the way towards clinical translation. Recently, a number of uncertainty estimation methods have been introduced for DL medical image segmentation tasks. Developing scores to evaluate and compare the performance of uncertainty measures will assist the end-user in making more informed decisions. In this study, we explore and evaluate a score developed during the BraTS 2019-2020 task on uncertainty quantification (QU-BraTS), and designed to assess and rank uncertainty estimates for brain tumor multi-compartment segmentation. This score (1) rewards uncertainty estimates that produce high confidence in correct assertions, and those that assign low confidence levels at incorrect assertions, and (2) penalizes uncertainty measures that lead to a higher percentages of under-confident correct assertions. We further benchmark the segmentation uncertainties generated by 14 independent participating teams of QU-BraTS 2020, all of which also participated in the main BraTS segmentation task. Overall, our findings confirm the importance and complementary value that uncertainty estimates provide to segmentation algorithms, and hence highlight the need for uncertainty quantification in medical image analyses. Our evaluation code is made publicly available at https://github.com/RagMeh11/QU-BraTS
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