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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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- Audouin, L., et al.
(författare)
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High-precision measurement of isotopic fission yields of 236 U
- 2018
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2101-6275 .- 2100-014X. ; 193
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Konferensbidrag (refereegranskat)abstract
- We report on the second SOFIA experiment, dedicated to the fission yields of 236U∗, analog to 235U(n,f). The measurement is based on the inverse kinematics method, using a relativistic, secondary beam of 236U. Both fission fragments are identified in mass and charge in the SOFIA recoil spectrometer. The obtained isotopic yields are compared with existing spectroscopy measurements and the elemental yields are used to discuss the treatment of the even-odd effect with energy in nuclear data libraries.
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- Chatillon, A., et al.
(författare)
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Accurate measurements of fission-fragment yields in U-234,U-235,U-236,U-238(gamma,f) with the SOFIA set-up
- 2016
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2101-6275 .- 2100-014X. - 9782759819706 ; 111
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Konferensbidrag (refereegranskat)abstract
- SOFIA (Studies On Fission with Aladin) is a new experimental set-up dedicated to accurate measurement of fission-fragments isotopic yields. It is located at GSI, the only place to use inverse kinematics at relativistic energies in order to study the (gamma,f) electromagnetic-induced fission. The SOFIA set-up is a large-acceptance magnetic spectrometer, which allows to fully identify both fission fragments in coincidence on the whole fission-fragment range. This paper will report on fission yields obtained in U-234,U-235,U-236,U-238(gamma,f) reactions.
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| 10. |
- Grente, L., et al.
(författare)
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The SOFIA experiment: Measurement of 236U fission fragment yields in inverse kinematics
- 2016
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Ingår i: EPJ Web of Conferences. - : EDP Sciences. - 2101-6275 .- 2100-014X. ; 122:01006
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Konferensbidrag (refereegranskat)abstract
- The SOFIA (Studies On FIssion with Aladin) experiment aims at measuring fission-fragments isotopic yields with high accuracy using inverse kinematics at relativistic energies. This experimental technique allows to fully identify the fission fragments in nuclear charge and mass number, thus providing very accurate isotopic yields for low energy fission of a large variety of fissioning systems. This report focuses on the latest results obtained with this set-up concerning electromagnetic-induced fission of 236U.
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- Landin-Olsson, Mona, et al.
(författare)
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Immunoreactive trypsin(Ogen) in the sera of children with recent-onset insulin-dependent diabetes and matched controls
- 1990
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Ingår i: Pancreas. - : Ovid Technologies (Wolters Kluwer Health). - 0885-3177. ; 5:3, s. 241-247
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Tidskriftsartikel (refereegranskat)abstract
- To evaluate the exocrine pancreatic function at the time of diagnosis of insulin-dependent diabetes mellitus, we determined immunoreactive an-odal and cathodal trypsin(ogen) levels in sera from almost all children (n = 375) 0-14 years of age in Sweden in whom diabetes developed during 1 year, and in sex-, age-, and geographically matched control subjects (n = 312). The median level of anodal trypsin(ogen) was 5 (quartile range, 3-7) µg/L in children with newly diagnosed diabetes, compared with a median level of 7 (quartile range, 4-8) µg/L in control subjects (p < 0.0001). Similarly, the median level of cathodal trypsin(ogen) was 8 (quartile range, 4-10) µg/L in children with diabetes, compared with a median level of 11 (quartile range, 7-15) µg/L in control subjects (p < 0.0001). The median of the individual ratios between cathodal and anodal trypsin(ogen) was 1.4 in the diabetic patients and 1.7 in the control children (p < 0.001). In a multivariate test, however, only the decrease in cathodal trypsin(ogen) concentration was associated with diabetes. The levels of trypsin(ogen)s did not correlate with levels of islet cell antibodies, present in 81% of the diabetic children. Several mechanisms may explain our findings, for example, similar pathogenetic factors may affect both the endocrine and exocrine pancreas simultaneously, a failing local trophic stimulation by insulin on the exocrine cells may decrease the trypsinogen production, and there may be an increased elimination of trypsin(ogen) because of higher filtration through the kidneys in the hyperglycemic state.
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- Gunnbjornsdottir, M. I., et al.
(författare)
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Obesity and nocturnal gastro-oesophageal reflux are related to onset of asthma and respiratory symptoms
- 2004
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Ingår i: Eur Respir J. - : European Respiratory Society (ERS). ; 24:1
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Tidskriftsartikel (refereegranskat)abstract
- Several studies have identified obesity as a risk factor for asthma in both children and adults. An increased prevalence of asthma in subjects with gastro-oesophageal reflux (GOR) and obstructive sleep apnoea syndrome has also been reported. The aim of this investigation was to study obesity, nocturnal GOR and snoring as independent risk factors for onset of asthma and respiratory symptoms in a Nordic population. In a 5-10 yr follow-up study of the European Community Respiratory Health Survey in Iceland, Norway, Denmark, Sweden and Estonia, a postal questionnaire was sent to previous respondents. A total of 16,191 participants responded to the questionnaire. Reported onset of asthma, wheeze and night-time symptoms as well as nocturnal GOR and habitual snoring increased in prevalence along with the increase in body mass index (BMI). After adjusting for nocturnal GOR, habitual snoring and other confounders, obesity (BMI >30) remained significantly related to the onset of asthma, wheeze and night-time symptoms. Nocturnal GOR was independently related to the onset of asthma and in addition, both nocturnal GOR and habitual snoring were independently related to onset of wheeze and night-time symptoms. This study adds evidence to an independent relationship between obesity, nocturnal gastro-oesophageal reflux and habitual snoring and the onset of asthma and respiratory symptoms in adults.
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- Bargholtz, Chr, et al.
(författare)
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Tagging of η mesons using the pd → 3Heη reaction near threshold
- 2006
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Ingår i: Instruments and experimental techniques (New York). - : Springer. - 0020-4412 .- 1608-3180. ; 49:4, s. 461-467
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Tidskriftsartikel (refereegranskat)abstract
- A zero-degree spectrometer for tagging η mesons on the CELSIUS/WASA facility is described, and its characteristics are presented. Tagging of η mesons is performed by detecting 3He ions produced by reaction pd → 3Heη close to the production threshold. The low background level (<2%) is in good agreement with the data obtained earlier on the SATURNE accelerator.
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| 18. |
- Bargholtz, Chr., et al.
(författare)
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The WASA detector facility at CELSIUS
- 2008
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Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 594:3, s. 339-350
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Tidskriftsartikel (refereegranskat)abstract
- The WASA 4 pi multidetector system, aimed at investigating light meson production in light ion collisions and eta meson rare decays at the CELSIUS storage ring in Uppsala is presented. A unique feature of the system is the use of hydrogen pellets as internal targets for the first time. A detailed description of the design, together with the anticipated and achieved performance parameters are given. (C) 2008 Elsevier B.V. All rights reserved.
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- Bratthall, G., et al.
(författare)
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Comparison of ready-to-use EMDOGAIN®-gel and EMDOGAIN® in patients with chronic adult periodontitis. A multicenter clinical study
- 2001
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Ingår i: Journal of Clinical Periodontology. - : John Wiley & Sons. - 0303-6979 .- 1600-051X. ; 28:10, s. 923-929
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: The aim of this multicenter trial was to compare the clinical and radiographical outcome of a ready-to-use Emdogain®-gel (test) with the marketed Emdogain® (control). Methods: Subjects with bilateral infrabony defects ≥4 mm deep and ≥2 mm wide according to radiographs were selected. 88 subjects with probing pocket depth (PPD) ≥6 mm ≥1 month after supervised oral hygiene and scaling participated. At baseline plaque index, bleeding on probing, PPD and probing attachment level were recorded and reproducible radiographs for computer-based bone level measurements were taken. In each subject, 1 tooth was randomly treated with the test and 1 tooth with the control gel. Examinations were repeated 8 and 16 months post-operatively. Results: After 16 months, the mean test PPD was 4.1 mm and the mean control PPD 4.2 mm. The mean gain of attachment was 2.7 mm for test and 2.9 mm for the control sites, and the radiographic measurements demonstrated a mean gain of 1 mm for both test and control sites. Conclusion: This series of cases demonstrated a statistically significant reduction of pocket depths and gain of attachment and bone after 8 and 16 months with no difference between the 2 preparations.
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- Jivegård, Lennart, 1950, et al.
(författare)
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Effects of three months of low molecular weight heparin (dalteparin) treatment after bypass surgery for lower limb ischemia--a randomised placebo-controlled double blind multicentre trial.
- 2005
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Ingår i: European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery. - : Elsevier BV. - 1078-5884. ; 29:2, s. 190-8
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To test the hypothesis that long-term postoperative dalteparin (Fragmin), Pharmacia Corp) treatment improves primary patency of peripheral arterial bypass grafts (PABG) in lower limb ischemia patients on acetylsalicylic acid (ASA) treatment. DESIGN: Prospective randomised double blind multicenter study. MATERIALS AND METHODS: Using a computer algorithm 284 patients with lower limb ischemia, most with pre-operative ischemic ulceration or partial gangrene, from 12 hospitals were randomised, after PABG, to 5000 IU dalteparin or placebo injections once daily for 3 months. All patients received 75 mg of ASA daily for 12 months. Graft patency was assessed at 1, 3 and 12 months. RESULTS: At 1 year, 42 patients had died or were lost to follow-up. Compliance with the injection schedule was 80%. Primary patency rate, in the dalteparin versus the control group, respectively, was 83 versus 80% (n.s.) at 3 months and 59% for both groups at 12 months. Major complication rates and cardiovascular morbidity were not different between the two groups. CONCLUSIONS: In patients on ASA treatment, long-term postoperative dalteparin treatment did not improve patency after peripheral artery bypass grafting. Therefore, low molecular weight heparin treatment cannot be recommended for routine use after bypass surgery for critical lower limb ischemia.
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