| 1. |
- Antoniou, A. C., et al.
(författare)
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : Implications for risk prediction
- 2010
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Ingår i: Cancer Research. - : American Association for Cancer Research. - 0008-5472 .- 1538-7445. ; 70:23, s. 9742-9754
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Tidskriftsartikel (refereegranskat)abstract
- The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10-11 - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers.
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| 2. |
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| 3. |
- Hudson, Thomas J., et al.
(författare)
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International network of cancer genome projects
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7291, s. 993-998
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Tidskriftsartikel (refereegranskat)abstract
- The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
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| 4. |
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| 5. |
- Gaudet, Mia M., et al.
(författare)
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Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
- 2010
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 6:10
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Tidskriftsartikel (refereegranskat)abstract
- The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (, 40 years) affected and 804 unaffected carriers of European ancestry. Associations were evaluated using a survival-based score test adjusted for familial correlations and stratified by country of the study and BRCA2*6174delT mutation status. The genomic inflation factor (lambda) was 1.011. The stage 1 association analysis revealed multiple variants associated with breast cancer risk: 3 SNPs had p-values, 10 25 and 39 SNPs had p-values<10(-4). These variants included several previously associated with sporadic breast cancer risk and two novel loci on chromosome 20 (rs311499) and chromosome 10 (rs16917302). The chromosome 10 locus was in ZNF365, which contains another variant that has recently been associated with breast cancer in an independent study of unselected cases. In stage 2, the top 85 loci from stage 1 were genotyped in 1,264 cases and 1,222 controls. Hazard ratios (HR) and 95% confidence intervals (CI) for stage 1 and 2 were combined and estimated using a retrospective likelihood approach, stratified by country of residence and the most common mutation, BRCA2*6174delT. The combined per allele HR of the minor allele for the novel loci rs16917302 was 0.75 (95% CI 0.66-0.86, p = 3: 8 x 10(-5)) and for rs311499 was 0.72 (95% CI 0.61-0.85, p = 6: 6 x 10(-5)). FGFR2 rs2981575 had the strongest association with breast cancer risk (per allele HR = 1.28, 95% CI 1.18-1.39, p = 1: 2 x 10(-8)). These results indicate that SNPs that modify BRCA2 penetrance identified by an agnostic approach thus far are limited to variants that also modify risk of sporadic BRCA2 wild-type breast cancer.
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| 6. |
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| 7. |
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| 8. |
- Antoniou, Antonis C., et al.
(författare)
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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
- 2011
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 20:16, s. 3304-3321
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Tidskriftsartikel (refereegranskat)abstract
- Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [ hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
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| 9. |
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| 10. |
- Martrat, Griselda, et al.
(författare)
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Exploring the link between MORF4L1 and risk of breast cancer
- 2011
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Ingår i: Breast Cancer Research. - : Springer Science and Business Media LLC. - 1465-5411 .- 1465-542X. ; 13:2
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P-trend = 0.45 and 0.05, P-2df = 0.51 and 0.14, respectively; and rs10519219, P-trend = 0.92 and 0.72, P-2df = 0.76 and 0.07, respectively. Conclusions: While the present study expands on the role of MRG15 in the control of genomic stability, weak associations cannot be ruled out for potential low-penetrance variants at MORF4L1 and BrCa risk among BRCA2 mutation carriers.
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| 11. |
- El-Seedi, Hesham R., et al.
(författare)
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Anti-schistosomiasis triterpene glycoside from the Egyptian medicinal plant Asparagus stipularis
- 2011
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Ingår i: REV BRAS FARMACOGN. - : SOC BRASILEIRA FARMACOGNOSIA. - 0102-695X. ; 22:2, s. 314-318
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Tidskriftsartikel (refereegranskat)abstract
- Bioassay-guided isolation using an in vitro assay testing for anti-schistosomiasis yielded a novel triterpene saponin, asparagalin A, from the n-butanol extract of the roots of Asparagus stipularis Forssk., Asparagaceae. The structure was elucidated by spectroscopic analysis and chemical transformations. Administration of asparagalin A resulted in a retardation of worm growth and locomotion at the first day and showed a significant activity of egg-laying suppression at 200 mu g/mL concentration.
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| 12. |
- Alexandrov, Ludmil B., et al.
(författare)
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Signatures of mutational processes in human cancer
- 2013
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 500:7463, s. 415-421
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Tidskriftsartikel (refereegranskat)abstract
- All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative. Here we analysed 4,938,362 mutations from 7,042 cancers and extracted more than 20 distinct mutational signatures. Some are present in many cancer types, notably a signature attributed to the APOBEC family of cytidine deaminases, whereas others are confined to a single cancer class. Certain signatures are associated with age of the patient at cancer diagnosis, known mutagenic exposures or defects in DNA maintenance, but many are of cryptic origin. In addition to these genome-wide mutational signatures, hypermutation localized to small genomic regions, 'kataegis', is found in many cancer types. The results reveal the diversity of mutational processes underlying the development of cancer, with potential implications for understanding of cancer aetiology, prevention and therapy.
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| 13. |
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| 14. |
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| 15. |
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| 16. |
- Aoude, Lauren G., et al.
(författare)
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A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers
- 2013
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 8:8
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Tidskriftsartikel (refereegranskat)abstract
- Truncating germline mutations in the tumor suppressor gene BRCA-1 associated protein-1 (BAP1) have been reported in families predisposed to developing a wide range of different cancer types including uveal melanoma and cutaneous melanoma. There has also been an association between amelanotic tumor development and germline BAP1 mutation suggesting a possible phenotypic characteristic of BAP1 mutation carriers. Though there have been many types of cancer associated with germline BAP1 mutation, the full spectrum of disease association is yet to be ascertained. Here we describe a Danish family with predominantly uveal melanoma but also a range of other tumor types including lung, neuroendocrine, stomach, and breast cancer; as well as pigmented skin lesions. Whole-exome sequencing identified a BAP1 splice mutation located at c.581-2A>G, which leads to a premature truncation of BAP1 in an individual with uveal melanoma. This mutation was carried by several other family members with melanoma or various cancers. The finding expands on the growing profile of BAP1 as an important uveal and cutaneous melanoma tumor suppressor gene and implicates its involvement in the development of lung, and stomach cancer.
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| 17. |
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| 18. |
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| 19. |
- Borg, Elisabet, et al.
(författare)
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An index for breathlessness and leg fatigue
- 2010
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Ingår i: Scandinavian Journal of Medicine and Science in Sports. - : Wiley. - 0905-7188 .- 1600-0838. ; 20:4, s. 644-650
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Tidskriftsartikel (refereegranskat)abstract
- The features of perceived symptoms causing discontinuation of strenuous exercise have been scarcely studied. The aim was to characterize the two main symptoms causing the discontinuation of heavy work in healthy persons as well as describe the growth of symptoms during exercise. Breathlessness (b) and leg fatigue (l) were assessed using the Borg CR10 Scale® and the Borg CR100 (centiMax) Scale®, during a standardized exercise test in 38 healthy subjects (24–71 years). The b/l-relationships were calculated for terminal perceptions (ERIb/l), and the growth of symptoms determined by power functions for the whole test, as well as by growth response indexes (GRI). This latter index was constructed as a ratio between power levels corresponding to a very strong and a moderate perception. In the majority (71%) of the test subjects, leg fatigue was the dominant symptom at the conclusion of exercise (P<0.001) and the b/l ratio was 0.77 (CR10) and 0.75 (CR100), respectively. The GRI for breathlessness and leg fatigue was similar, with good correlations between GRI and the power function exponent (P<0.005). In healthy subjects, leg fatigue is the most common cause for discontinuing an incremental exercise test. The growth functions for breathlessness and leg fatigue during work are, however, almost parallel.
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| 20. |
- Borg, Johan, et al.
(författare)
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Assistive technology use and human rights enjoyment: a cross-sectional study in Bangladesh
- 2012
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Ingår i: BMC International Health and Human Rights. - 1472-698X. ; 12:18
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Tidskriftsartikel (refereegranskat)abstract
- Background: About half a billion people with disabilities in developing countries have limited access to assistive technology. The Convention on the Rights of persons with Disabilities requires governments to take measures to ensure provision of such technologies. To guide implementation of these measures there is a need for understanding health outcomes from a human rights perspective. The objective of this study was therefore to explore the relation between assistive technology use and enjoyment of human rights in a low-income country. Methods: Data was collected in eight districts of Bangladesh through interviews of people with hearing impairments using and not using hearings aids, and people with ambulatory impairments using and not using manual wheelchairs (N = 583). Using logistic regression, self-reported outcomes on standard of living, health, education, work, receiving information and movement were analyzed. Results: The adjusted likelihood of reporting greater enjoyment of human rights was significantly higher among people using hearing aids compared to non-users for all outcomes except working status. Compared to non-users, users of wheelchairs reported a significantly higher adjusted likelihood of good ambulatory performance and a significantly lower adjusted likelihood of reporting a positive working status. Further analyses indicated that physical accessibility to working places and duration of wheelchair use had a statistically significant impact on the likelihood of reporting positive work outcomes. Conclusions: The findings support the notion that assistive technology use increases the likelihood of human rights enjoyment, particularly hearing aid use. Physical accessibility should always be addressed in wheelchair provision.
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| 21. |
- Borg, Johan, et al.
(författare)
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User involvement in service delivery predicts outcomes of assistive technology use: A cross-sectional study in Bangladesh
- 2012
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Ingår i: BMC Health Services Research. - : Springer Science and Business Media LLC. - 1472-6963. ; 12:330
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Tidskriftsartikel (refereegranskat)abstract
- Background: Knowledge about the relation between user involvement in the provision of assistive technology and outcomes of assistive technology use is a prerequisite for the development of efficient service delivery strategies. However, current knowledge is limited, particularly from low-income countries where affordability is an issue. The objective was therefore to explore the relation between outcomes of assistive technology use and user involvement in the service delivery process in Bangladesh. Methods: Using structured interviews, data from 136 users of hearing aids and 149 users of manual wheelchairs were collected. Outcomes were measured using the International Outcome Inventory for Hearing Aids (IOI-HA), which was adapted for wheelchair users. Predictors of user involvement included preference, measurement and training. Results: Users reported outcomes comparable to those found in other high- and low-income countries. User involvement increased the likelihood for reporting better outcomes except for measurement among hearing aid users. Conclusions: The findings support the provision of assistive technology as a strategy to improve the participation of people with disabilities in society. They also support current policies and guidelines for user-involvement in the service delivery process. Simplified strategies for provision of hearing aids may be explored.
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| 22. |
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| 23. |
- Edberg, Frida, 1966-
(författare)
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Bacteria and geochemistry in a former uranium open pit mine - mobilization of trace metals
- 2011
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- In mining areas around the world, chemical and biotic processes have lead to the release of toxic substances, e.g. metals. Microbial processes influence metal speciation, while the chemical environment shapes and controls microbial populations. This thesis has two parts and the papers cover various aspects of metal-to-microbe links in a former uranium mine at Ranstad, Sweden. The first part of the thesis examines bacteria-induced metal mobilization by the cultivation of Pseudomonas fluorescens with ore and minerals from the Ranstad mine. The presence of a mineral source stimulated bacterial growth. Pyoverdine-type siderophores typical for P. fluorescens were produced, but also other types of siderophores. The bacterial mobilization of metals is implied by the agreement in concentrations of Fe-pyoverdine complex and soluble Fe, and by the concentrations of Ni and Co in solution. U was mobilized from the ore as a result of bacterial growth raising pH. The second part of the thesis focus on the partitioning of metals and their links to the microbial communities in the water of the former open pit mine, Lake Tranebärssjön. The lake was pH-neutral to alkaline, highly stratified, and had an anoxic hypolimnion with high concentrations of metals and SO42-. Size fractionation showed the dissolved fraction dominating for most metals, while the particulate and colloidal fractions dominated for Fe. Chemical equilibrium models agreed reasonably well with these results. In the pyrosequencing study of the bacterial community, depth-related changes in water chemistry corresponded to a distinct shift in the microbial community, indicating a chemical control. The presence of metal- and SO42--reducing bacteria suggests a possible microbe – chemistry connection. The findings of this thesis could be used for the restoration and remediation of mining sites, and provides information on factors governing the establishment and control of bacterial populations in freshwaters.
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| 24. |
- El-Seedi, Hesham, et al.
(författare)
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Biosynthesis, natural sources, dietary intake, pharmacokinetic properties, and biological activities of hydroxycinnamic acids
- 2012
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Ingår i: Journal of Agricultural and Food Chemistry. - : American Chemical Society (ACS). - 0021-8561 .- 1520-5118. ; 60:44, s. 10877-10895
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Forskningsöversikt (refereegranskat)abstract
- Hydroxycinnamic acids are the most widely distributed phenolic acids in plants. Broadly speaking, they can be defined as compounds derived from cinnamic acid. They are present at high concentrations in many food products, including fruits, vegetables, tea, cocoa, and wine. A diet rich in hydroxycinnamic acids is thought to be associated with beneficial health effects such as a reduced risk of cardiovascular disease. The impact of hydroxycinnamic acids on health depends on their intake and pharmacokinetic properties. This review discusses their chemistry, biosynthesis, natural sources, dietary intake, and pharmacokinetic properties.
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| 25. |
- El-Seedi, Hesham R., et al.
(författare)
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Recent insights into the biosynthesis and biological activities of natural xanthones
- 2010
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Ingår i: Current Medicinal Chemistry. - : Bentham Science Publishers Ltd.. - 0929-8673 .- 1875-533X. ; 17:9, s. 854-901
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Forskningsöversikt (refereegranskat)abstract
- This review focuses on recent advances in our understanding of the complex biosynthetic pathways and diverse biological activities of naturally occurring xanthones. The biosynthesis section covers studies published from 1989 to 2008 on xanthone production in plants and fungi, while the bioactivity review presents tabulated activities of more than 250 xanthones described in studies published from 2001 to 2008, together with structural information and indications of their wide-ranging potential uses as pharmacological tools. A large number of relevant papers have been published on these subjects (128 cited here), illustrating the diversity of the xanthones and their possible uses.
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| 26. |
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| 27. |
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| 28. |
- Favre-Nicolin, V., et al.
(författare)
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Analysis of strain and stacking faults in single nanowires using Bragg coherent diffraction imaging
- 2010
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Ingår i: New Journal of Physics. - : IOP Publishing. - 1367-2630. ; 12
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Tidskriftsartikel (refereegranskat)abstract
- Coherent diffraction imaging (CDI) on Bragg reflections is a promising technique for the study of three-dimensional (3D) composition and strain fields in nanostructures, which can be recovered directly from the coherent diffraction data recorded on single objects. In this paper, we report results obtained for single homogeneous and heterogeneous nanowires with a diameter smaller than 100 nm, for which we used CDI to retrieve information about deformation and faults existing in these wires. We also discuss the influence of stacking faults, which can create artefacts during the reconstruction of the nanowire shape and deformation.
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| 29. |
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| 30. |
- Higier, Rachel G, et al.
(författare)
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Enhanced neurocognitive functioning and positive temperament in twins discordant for bipolar disorder
- 2014
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Ingår i: American Journal of Psychiatry. - : American Psychiatric Association Publishing. - 0002-953X .- 1535-7228. ; 171:11, s. 1191-1198
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Based on evidence linking creativity and bipolar disorder, a model has been proposed whereby factors influencing liability to bipolar disorder confer certain traits with positive effects on reproductive fitness. The authors tested this model by examining key traits known to be associated with evolutionary fitness, namely, temperament and neurocognition, in individuals carrying liability for bipolar disorder. Schizophrenia probands and their co-twins were included as psychiatric controls.METHOD: Twin pairs discordant for bipolar disorder and schizophrenia and control pairs were identified through the Swedish Twin Registry. The authors administered a neuropsychological test battery and temperament questionnaires to samples of bipolar probands, bipolar co-twins, schizophrenia probands, schizophrenia co-twins, and controls. Multivariate mixed-model analyses of variance were conducted to compare groups on temperament and neurocognitive scores.RESULTS: Bipolar co-twins showed elevated scores on a "positivity" temperament scale compared with controls and bipolar probands, while bipolar probands scored higher on a "negativity" scale compared with their co-twins and controls, who did not differ. Additionally, bipolar co-twins showed superior performance compared with controls on tests of verbal learning and fluency, while bipolar probands showed performance decrements across all neurocognitive domains. In contrast, schizophrenia co-twins showed attenuated impairments in positivity and overall neurocognitive functioning relative to their ill proband counterparts.CONCLUSIONS: These findings suggest that supra-normal levels of sociability and verbal functioning may be associated with liability for bipolar disorder. These effects were specific to liability for bipolar disorder and did not apply to schizophrenia. Such benefits may provide a partial explanation for the persistence of bipolar illness in the population.
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| 31. |
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| 32. |
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| 33. |
- Schaefer, A., et al.
(författare)
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Controlled modification of nanoporous gold : Chemical vapor deposition of TiO2 in ultrahigh vacuum
- 2013
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Ingår i: Applied Surface Science. - : Elsevier BV. - 0169-4332 .- 1873-5584. ; 282, s. 439-443
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Tidskriftsartikel (refereegranskat)abstract
- TiO2 has been deposited in the first 400 nm of a nanoporous gold (NPG) structure using metal organic chemical vapor deposition with titanium-tetraisopropoxide as single source precursor in ultra high vacuum. The NPG has been pretreated by ozone to clean and stabilize the structure for deposition. The deposited oxide stabilizes the porous structure, otherwise prone to coarsening at elevated temperatures, up to 300 degrees C. The study combines the controlled sample preparation with a functional test of the prepared catalyst under real conditions in a continuous gas flow reactor. The catalytic activity of the loaded NPG at 60 degrees C for CO oxidation is found to be superior to unloaded as-prepared NPG.
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| 34. |
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| 35. |
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| 36. |
- Andrén, Cecilia M., 1964-
(författare)
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Toxicity of Inorganic Aluminium in Humic Streams
- 2012
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Aluminium (Al) has been recognised as a main toxic factor alongside pH in acidified water ecosystems. The toxic effect of Al has been attributed to inorganic Al (Ali), though there are few in situ studies in ambient humic waters which are the focus of this thesis.The aim was to estimate Ali toxicity and thus also Ali concentrations in Swedish humic streams. Subsequently it is necessary to analyse Ali correctly, which was studied by modelling and method intercalibrations. The hypothesis was that the effect of Ali could be followed via physiological effects and Al accumulation, as well as by mortality. Toxicity was studied by in stream exposures of brown trout (Salmo trutta L.) and two salmonid prey organisms (Gammarus pulex and Baetis rhodani) during spring flood.The modelling of the Ali fraction was performed using monitoring data covering all of Sweden with satisfactory results. The essential variables for Ali modelling were determined; Al, DOC, pH and F, while Fe, Ca and Mg had less effect. The automated analytical procedure for Ali (with cation exchange followed by complexation with pyrocatechol violet) was modified and validated and showed to be the preferred method for laboratory analyses.To avoid detrimental effects for brown trout Ali should be <20 µg/L and pH >5.0; mortality was high when the Ali was above 50 µg/L. The invertebrates were more sensitive, as mortalities occurred at pH <6.0 and Ali >15 µg/L for G. pulex, and at pH <5.7 and Ali >20 µg/L for B. rhodani. It is prudent to use a wide view and let the most sensitive species set the tolerance limits; a pH above 5.7-6.0 and Ali below 15-20 µg/L allows the stream ecosystems to thrive.Today, as waters are recovering from acidification, the aim of mitigating liming is to carefully adjust dosage to avoid suboptimal water quality. The thresholds found in this thesis can be used to efficiently but carefully decrease liming, as both Ali and pH levels have to be balanced to sustain the recovering aquatic biota.
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| 37. |
- Arason, Adalgeir, et al.
(författare)
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Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families
- 2010
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Ingår i: Breast Cancer Research. - : Springer Science and Business Media LLC. - 1465-5411 .- 1465-542X. ; 12:4, s. R50-
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Tidskriftsartikel (refereegranskat)abstract
- Chromosomes 2p, 6q and 14q are candidate sites for genes contributing together to high breast cancer risk. A polygenic model is supported, suggesting the joint effect of genes in contributing to breast cancer risk to be rather common in non-BRCA1/2 families. For genetic counselling it would seem important to resolve the mode of genetic interaction.
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| 38. |
- Blomberg, Sara, et al.
(författare)
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In Situ X-Ray Photoelectron Spectroscopy of Model Catalysts: At the Edge of the Gap
- 2013
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Ingår i: Physical Review Letters. - 1079-7114. ; 110:11
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Tidskriftsartikel (refereegranskat)abstract
- We present high-pressure x-ray photoelectron spectroscopy (HP-XPS) and first-principles kinetic Monte Carlo study addressing the nature of the active surface in CO oxidation over Pd(100). Simultaneously measuring the chemical composition at the surface and in the near-surface gas phase, we reveal both O-covered pristine Pd(100) and a surface oxide as stable, highly active phases in the near-ambient regime accessible to HP-XPS. Surprisingly, no adsorbed CO can be detected during high CO2 production rates, which can be explained by a combination of a remarkably short residence time of the CO molecule on the surface and mass-transfer limitations in the present setup. DOI: 10.1103/PhysRevLett.110.117601
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| 39. |
- Bolte, S., et al.
(författare)
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The Roots of Autism and ADHD Twin Study in Sweden (RATSS)
- 2014
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Ingår i: Twin Research and Human Genetics. - Stockholm : Cambridge University Press (CUP). - 1832-4274 .- 1839-2628. ; 17:3, s. 164-176
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Tidskriftsartikel (refereegranskat)abstract
- Neurodevelopmental disorders affect a substantial minority of the general population. Their origins are still largely unknown, but a complex interplay of genetic and environmental factors causing disturbances of the central nervous system's maturation and a variety of higher cognitive skills is presumed. Only limited research of rather small sample size and narrow scope has been conducted in neurodevelopmental disorders using a twin-differences design. The Roots of Autism and ADHD Twin Study in Sweden (RATSS) is an ongoing project targeting monozygotic twins discordant for categorical or dimensional autistic and inattentive/hyperactive-impulsive phenotypes as well as other neurodevelopmental disorders, and typically developing twin controls. Included pairs are 9 years of age or older, and comprehensively assessed for psychopathology, medical history, neuropsychology, and dysmorphology, as well as structural, functional, and molecular brain imaging. Specimens are collected for induced pluripotent (iPS) and neuroepithelial stem cells, genetic, gut bacteria, protein-/monoamine, and electron microscopy analyses. RATSS's objective is to generate a launch pad for novel surveys to understand the complexity of genotype-environment-phenotype interactions in autism spectrum disorder and attention-deficit hyperactivity disorder (ADHD). By October 2013, RATSS had collected data from 55 twin pairs, among them 10 monozygotic pairs discordant for autism spectrum disorder, seven for ADHD, and four for other neurodevelopmental disorders. This article describes the design, recruitment, data collection, measures, collected pairs' characteristics, as well as ongoing and planned analyses in RATSS. Potential gains of the study comprise the identification of environmentally mediated biomarkers, the emergence of candidates for drug development, translational modeling, and new leads for prevention of incapacitating outcomes.
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| 40. |
- Borg, Tomas, et al.
(författare)
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Quality of life in patients operated for pelvic fractures caused by suicide attempt by jumping
- 2010
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Ingår i: Scandinavian Journal of Surgery. - : Sage Publications. - 1457-4969 .- 1799-7267. ; 99:3, s. 180-186
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Tidskriftsartikel (refereegranskat)abstract
- Background and Aims: Jumping from great height is an aggressive method of suicide attempt where the frequent combination of psychiatric disorder and somatic injuries makes treatment difficult. Our aim was to evaluate survival rate and get patient-reported outcome in patients operated for a pelvic or acetabular fracture sustained when jumping from a height as a suicide attempt. Patients and Methods: During the period 2003-2004, 12 patients (11 women) of whom eight were below 30 years of age, were prospectively included. At two years HRQoL (Health-Related Quality of Life) questionnaires (SF-36 and LiSat-11) were used to describe outcome, and at four years a structured psychiatric interview SCID-I (Structured Clinical Interview for DSM-IV Axis I Disorders) was done. Results: At four years all patients were alive. One patient had made a new suicide attempt. Eight patients gave adequate reply on SF-36 and LiSat-11 at two years. In all domains patients scored lower than a norm group with the relatively lowest values in physical domains. Younger patients assessed life as better when compared with middle aged patients. Conclusions: This study showed a very low recurrence rate into suicidal behaviour in a group of jumpers and all patients were alive at four years after a suicidal attempt by jumping. The high proportion of psychiatric disorder in these patients highlights the need for a combined treatment effort between orthopaedic and psychiatric expertise.
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| 41. |
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| 42. |
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| 43. |
- Fernandes, V. R., et al.
(författare)
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H-2 reduction of surface oxides on Pd-based membrane model systems - The case of Pd(100) and Pd75Ag25(100)
- 2014
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Ingår i: Applied Surface Science. - : Elsevier BV. - 1873-5584 .- 0169-4332. ; 313, s. 794-803
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Tidskriftsartikel (refereegranskat)abstract
- Reduction of the (root 5 x root 5)R27 degrees surface oxide on Pd(1 0 0) and Pd75Ag25(1 0 0) surfaces by H-2 has been studied using high-resolution photoelectron spectroscopy in situ at H-2 pressures 5 x 10(-9) mbar and 5 x 10(-8) mbar and selected temperatures in the range 30 degrees C to 170 degrees C. The reduction is slower on Pd75Ag25(1 0 0) compared to Pd(1 0 0) for all temperatures and pressures investigated. For Pd(1 0 0), the surface oxide reduction rate is rather independent of temperature, while for Pd75Ag25(1 0 0) a nonmonotonic variation is observed. As indicated by kinetic analysis, the complex reduction behavior is not well described by Avrami kinetics. Oxygen spillover effects contribute to this picture for Pd(1 0 0), while surface compositional effects appear to dominate the performance for Pd75Ag25(1 0 0). These findings may have implications for understanding the oxidation, reduction and hydrogen transport properties of Pd-Ag membranes. (C) 2014 Elsevier B.V. All rights reserved.
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| 44. |
- Fernandes, V. R., et al.
(författare)
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Reduction behavior of oxidized Pd(100) and Pd75Ag25(100) surfaces using CO
- 2014
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Ingår i: Surface Science. - : Elsevier BV. - 0039-6028. ; 621, s. 31-39
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Tidskriftsartikel (refereegranskat)abstract
- The reduction of the (A root 5x root 5)R27 degrees surface oxide on Pd(100) and Pd75Ag25(100) surfaces by CO has been investigated by high-resolution X-ray photoelectron spectroscopy in combination with kinetic analysis using the Avrami-Erofeev theory. For both surfaces we observed faster reduction with increasing temperature. Kinetic analysis indicates that the reduction process is phase boundary controlled for Pd(100) in the temperature range investigated, from 30 degrees C to 120 degrees C On Pd75Ag25(100) the surface oxide reduction is significantly slower compared to Pd(100). Also in this case, a phase boundary controlled reduction of the surface oxide is observed at temperatures of 120 C and above, while at T <= 70 degrees C the reduction is found to be diffusion limited. Density functional theory calculations show that the presence of silver in the outermost surface layer significantly increases the CO diffusion barriers on the reduced areas, supporting a diffusion limited reduction process for Pd75Ag25(100) at lower temperatures. (C) 2013 Elsevier B.V. All rights reserved.
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| 45. |
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| 46. |
- Hoogendoorn, Martine, et al.
(författare)
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Cost-Effectiveness Models for Chronic Obstructive Pulmonary Disease: Cross-Model Comparison of Hypothetical Treatment Scenarios
- 2014
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Ingår i: Value in Health. - : Elsevier BV. - 1098-3015. ; 17:5, s. 525-536
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Tidskriftsartikel (refereegranskat)abstract
- Objectives To compare different chronic obstructive pulmonary disease (COPD) cost-effectiveness models with respect to structure and input parameters and to cross-validate the models by running the same hypothetical treatment scenarios. Methods COPD modeling groups simulated four hypothetical interventions with their model and compared the results with a reference scenario of no intervention. The four interventions modeled assumed 1) 20% reduction in decline in lung function, 2) 25% reduction in exacerbation frequency, 3) 10% reduction in all-cause mortality, and 4) all these effects combined. The interventions were simulated for a 5-year and lifetime horizon with standardization, if possible, for sex, age, COPD severity, smoking status, exacerbation frequencies, mortality due to other causes, utilities, costs, and discount rates. Furthermore, uncertainty around the outcomes of intervention four was compared. Results Seven out of nine contacted COPD modeling groups agreed to participate. The 5-year incremental cost-effectiveness ratios (ICERs) for the most comprehensive intervention, intervention four, was €17,000/quality-adjusted life-year (QALY) for two models, €25,000 to €28,000/QALY for three models, and €47,000/QALY for the remaining two models. Differences in the ICERs could mainly be explained by differences in input values for disease progression, exacerbation-related mortality, and all-cause mortality, with high input values resulting in low ICERs and vice versa. Lifetime results were mainly affected by the input values for mortality. The probability of intervention four to be cost-effective at a willingness-to-pay value of €50,000/QALY was 90% to 100% for five models and about 70% and 50% for the other two models, respectively. Conclusions Mortality was the most important factor determining the differences in cost-effectiveness outcomes between models.
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| 47. |
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| 48. |
- Johansson, E. M. J., et al.
(författare)
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Comparing Surface Binding of the Maleic Anhydride Anchor Group on Single Crystalline Anatase TiO2 (101), (100), and (001) Surfaces
- 2010
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Ingår i: The Journal of Physical Chemistry C. - : American Chemical Society (ACS). - 1932-7447 .- 1932-7455. ; 114:35, s. 15015-15020
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Tidskriftsartikel (refereegranskat)abstract
- We report on the surface binding of the maleic anhydride (C4H2O3, MA) on the TiO2 anatase (101), (100), and (001) single crystal surfaces. The MA anchor group has recently been used for dye adsorption in solar cells based on nanostructured anatase, and the results reported here are partly discussed with respect to such systems. MA was deposited simultaneously onto the (101), (100), and (001) TiO2 single crystal surfaces in UHV, and the surface binding was investigated with electron spectroscopy. The O1s and C1s core-level spectra were compared to a multilayer of MA to investigate the differences in bonding to the anatase surfaces. The results suggest a surface chemistry where the molecule reacts and the MA ring opens when adsorbed at the (101) and (100) surfaces. The molecule anchors via four oxygen atoms, similar to bonding with two carboxylic groups on TiO2. For the (001) surface, the spectra indicated a different adsorption geometry. A small amount of electronic states in the bandgap of the TiO2 surfaces was observed both before and after MA was deposited onto the surfaces, and on the (101) and (100) surfaces, the intensity of these surface states was slightly enhanced after deposition of MA.
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| 49. |
- Lannsjö, Marianne, 1956-, et al.
(författare)
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Does head CT scan pathology predict outcome after mild traumatic brain injury?
- 2013
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Ingår i: European Journal of Neurology. - : Wiley. - 1351-5101 .- 1468-1331. ; 20:1, s. 124-129
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Tidskriftsartikel (refereegranskat)abstract
- Background:More evidence is needed to forward our understanding of the key determinants of poor outcome after mild traumatic brain injury (MTBI). A large, prospective, national cohort of patients was studied to analyse the effect of head CT scan pathology on the outcome.Methods:Thousand two hundred and sixty-two patients with MTBI [Glasgow Coma Scale (GCS) score 15] at 39 emergency departments completed a study protocol including acute head CT scan examination and follow-up by the Rivermead Post Concussion Symptoms Questionnaire (RPQ) and the Glasgow Outcome Scale Extended (GOSE) at 3 months after MTBI. Binary logistic regression was used for the assessment of prediction ability.Results:In 751 men (60%) and 511 women (40%), with a mean age of 30 years (median 21, range 6–94), we observed relevant or suspect relevant pathologic findings on acute CT scan in 52 patients (4%). Patients aged below 30 years reported better outcome both with respect to symptoms and GOSE as compared to patients in older age groups. Men reported better outcome than women as regards symptoms (OR 0.64, CI 0.49–0.85 for 3 symptoms) and global function (OR 0.60, CI 0.39–0.92 for GOSE 1–6).Conclusions:Pathology on acute CT scan examination had no effect on selfreported symptoms or global function at 3 months after MTBI. Female gender and older age predicted a less favourable outcome. The findings support the view that other factors than brain injury deserve attention to minimize long-term complaints after MTBI.
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