| 1. |
- Glodzik, Dominik, et al.
(författare)
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Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers
- 2020
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Homologous recombination deficiency (HRD) is a defining characteristic in BRCA-deficient breast tumors caused by genetic or epigenetic alterations in key pathway genes. We investigated the frequency of BRCA1 promoter hypermethylation in 237 triple-negative breast cancers (TNBCs) from a population-based study using reported whole genome and RNA sequencing data, complemented with analyses of genetic, epigenetic, transcriptomic and immune infiltration phenotypes. We demonstrate that BRCA1 promoter hypermethylation is twice as frequent as BRCA1 pathogenic variants in early-stage TNBC and that hypermethylated and mutated cases have similarly improved prognosis after adjuvant chemotherapy. BRCA1 hypermethylation confers an HRD, immune cell type, genome-wide DNA methylation, and transcriptional phenotype similar to TNBC tumors with BRCA1-inactivating variants, and it can be observed in matched peripheral blood of patients with tumor hypermethylation. Hypermethylation may be an early event in tumor development that progress along a common pathway with BRCA1-mutated disease, representing a promising DNA-based biomarker for early-stage TNBC.
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| 2. |
- Hörnell, Agneta, et al.
(författare)
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Perspective: An extension of the STROBE statement for observational studies in nutritional epidemiology (STROBE-nut): Explanation and elaboration
- 2017
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Ingår i: Advances in Nutrition. - : Elsevier BV. - 2161-8313 .- 2156-5376. ; 8, s. 652-678
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Tidskriftsartikel (refereegranskat)abstract
- © 2017 American Society for Nutrition. Nutritional epidemiology is an inherently complex and multifaceted research area. Dietary intake is a complex exposure and is challenging to describe and assess, and links between diet, health, and disease are difficult to ascertain. Consequently, adequate reporting is necessary to facilitate comprehension, interpretation, and generalizability of results and conclusions. The STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) statement is an international and collaborative initiative aiming to enhance the quality of reporting of observational studies. We previously presented a checklist of 24 reporting recommendations for the field of nutritional epidemiology, called "the STROBE-nut." The STROBE-nut is an extension of the general STROBE statement, intended to complement the STROBE recommendations to improve and standardize the reporting in nutritional epidemiology. The aim of the present article is to explain the rationale for, and elaborate on, the STROBE-nut recommendations to enhance the clarity and to facilitate the understanding of the guidelines. Examples from the published literature are used as illustrations, and references are provided for further reading.
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| 3. |
- Larsson, Christel, et al.
(författare)
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Implant-supported full-arch zirconia-based mandibular fixed dental prostheses : eight-year results from a clinical pilot study
- 2013
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Ingår i: Acta Odontologica Scandinavica. - : Informa Healthcare. - 0001-6357 .- 1502-3850. ; 71:5, s. 1118-1122
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Tidskriftsartikel (refereegranskat)abstract
- Objective. The purpose of this pilot study was to evaluate the long-term clinical performance of implant-supported full-arch zirconia-based fixed dental prostheses (FDPs). Materials and methods. Ten patients received full-arch zirconia-based (Cercon) mandibular FDPs supported by four implants (Astra Tech). Nine patients received 10-unit FDPs and one patient received a 9-unit FDP. The FDPs were cemented onto individually prepared titanium abutments and were evaluated at baseline and after 12, 24, 36 and 96 months. Results. Nine patients attended the 8-year follow-up. None of the restorations showed bulk fracture, all FDPs were in use. Fractures of the veneering porcelain were, however, observed in eight patients. A total of 36 out of 89 units (40%) showed such fractures. Patient satisfaction was excellent despite the veneering material fractures. Conclusion. Results from this 8-year pilot study suggest that implant-supported full-arch zirconia-based FDPs can be an acceptable treatment alternative.
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| 4. |
- Lindvall, Kristina, et al.
(författare)
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Comparisons of weight change, eating habits and physical activity between women in Northern Sweden and Rural New York State-results from a longitudinal study
- 2015
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Ingår i: Nutrition Journal. - : Springer Science and Business Media LLC. - 1475-2891. ; 14:88
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Tidskriftsartikel (refereegranskat)abstract
- Background: Previous research has focused exclusively on weight loss or weight maintenance following weight loss, i.e. secondary weight maintenance (SWM). The long-term results of SWM have been modest, suggesting that preventing initial weight gain among normal weight or overweight individuals, i.e. primary weight maintenance (PWM), may be more successful. The aim of this study was to compare the pattern of weight change between Swedish and US women and to contrast eating and physical activity between the two countries. Methods: A questionnaire of attitudes, strategies and behaviours regarding physical activity, food habits, body image and demands to maintain weight was mailed to 4021 Swedish and 3199 US individuals. Subjects had weight measurements taken 10 years apart in the Vasterbotten Intervention Programme in northern Sweden, and self-reported weight as part of the Upstate Health and Wellness Study in Upstate New York. The mean 10-year percent weight change, and weight change in kilograms, were calculated between the two countries for nine female age (30, 40, 50 years at baseline) by BMI (20-25, 25-30, 30-35) groups. For the Swedish/US pair showing the largest differences in these two endpoints, analysis of variance, correlations and chi-square tests identified likely contributors to the observed differences in weight change. Results: For all subgroups combined, the mean percent weight changes for Swedish women and US women were 4.9 % (SD = 5.8) and 9.1 % (SD = 13.7) respectively (p<0.001). Differences in 10 year weight change between the two countries were largest among normal weight 30 year olds. Eight variables were identified as likely contributors to this difference. A significantly higher proportion of Swedish women selected the healthy alternatives for these eight variables. Percent weight change varied considerably over healthy versus unhealthy response levels in the US, but not in Sweden. Conclusions: The prevalence of obesity among the Swedish women did not progress as rapidly as among the US. The greatest weight gain occurred predominantly among the 30 year old groups. The Swedish women tended to select healthier alternatives than their US counterparts, and women in the US appeared to be more vulnerable to the effects of unhealthy habits than women in Sweden.
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| 5. |
- Lindvall, Kristina, et al.
(författare)
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Primary weight maintenance: an observational study exploring candidate variables for intervention
- 2013
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Ingår i: Nutrition Journal. - : Springer Science and Business Media LLC. - 1475-2891. ; 12
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Tidskriftsartikel (refereegranskat)abstract
- Background: Previous studies have focused on weight maintenance following weight loss, i.e. secondary weight maintenance (SWM). The long-term results of SWM have been rather modest and it has been suggested that preventing initial weight gain, i.e. primary weight maintenance (PWM), may be more successful. Therefore, developing a prevention strategy focused on PWM, enabling normal weight or overweight individuals to maintain their weight, would be of great interest. The aim of this study was to identify attitudes, strategies, and behaviors that are predictive of PWM in different age, sex and BMI groups in Northern Sweden. Methods: A questionnaire was mailed to 3497 individuals in a Swedish population that had two measured weights taken ten years apart, as participants in the Vasterbotten Intervention Programme. Subjects were between 41-63 years of age at the time of the survey, had a baseline BMI of 20-30, and a ten year percent change in BMI greater than -3%. The respondents were divided into twelve subgroups based on baseline age (30, 40 and 50), sex and BMI (normal weight and overweight). Analysis of variance (ANOVA), correlation, and linear regression were performed to identify independent predictors of PWM. Results: Of the 166 predictors tested, 152 (91.6%) were predictive of PWM in at least one subgroup. However, only 7 of these 152 variables (4.6%) were significant in 6 subgroups or more. The number of significant predictors of PWM was higher for male (35.8) than female (27.5) subgroups (p=0.044). There was a tendency (non significant) for normal weight subgroups to have a higher number of predictors (35.3) than overweight subgroups (28.0). Adjusted R-squared values ranged from 0.1 to 0.420. Conclusions: The large number of PWM predictors identified, and accompanying high R-squared values, provide a promising first step towards the development of PWM interventions. The large disparity in the pattern of significant variables between subgroups suggests that these interventions should be tailored to the person's demographic (age, sex and BMI). The next steps should be directed towards evaluation of these predictors for causal potential.
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| 6. |
- Middeldorp, Christel M., et al.
(författare)
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The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia : design, results and future prospects
- 2019
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Ingår i: European Journal of Epidemiology. - : Springer Science and Business Media LLC. - 0393-2990 .- 1573-7284. ; 34:3, s. 279-300
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Tidskriftsartikel (refereegranskat)abstract
- The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as cardiovascular disease. Insight into the genetic etiology of childhood and adolescent traits and disorders may therefore provide new perspectives, not only on how to improve wellbeing during childhood, but also how to prevent later adverse outcomes. To achieve the sample sizes required for genetic research, the Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia were established. The majority of the participating cohorts are longitudinal population-based samples, but other cohorts with data on early childhood phenotypes are also involved. Cohorts often have a broad focus and collect(ed) data on various somatic and psychiatric traits as well as environmental factors. Genetic variants have been successfully identified for multiple traits, for example, birth weight, atopic dermatitis, childhood BMI, allergic sensitization, and pubertal growth. Furthermore, the results have shown that genetic factors also partly underlie the association with adult traits. As sample sizes are still increasing, it is expected that future analyses will identify additional variants. This, in combination with the development of innovative statistical methods, will provide detailed insight on the mechanisms underlying the transition from childhood to adult disorders. Both consortia welcome new collaborations. Policies and contact details are available from the corresponding authors of this manuscript and/or the consortium websites.
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| 7. |
- Norén, Erika, et al.
(författare)
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Concentrations and temporal trends in pesticide biomarkers in urine of Swedish adolescents, 2000–2017
- 2020
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Ingår i: Journal of Exposure Science and Environmental Epidemiology. - : Springer Science and Business Media LLC. - 1559-0631 .- 1559-064X. ; 30:4, s. 756-767
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Tidskriftsartikel (refereegranskat)abstract
- Agricultural pesticides are extensively used for weed- and pest control, resulting in residues of these compounds in food. The general population is mainly exposed through dietary intake. Exposure to certain pesticides has been associated with adverse human health outcomes. Our aim was to assess urinary concentrations and temporal trends in the biomarkers of commonly used pesticides. Samples were collected from adolescents (n = 1060) in Scania, Sweden, from 2000 to 2017. Concentrations of 14 pesticide biomarkers were analyzed in urine using LC–MS/MS. Temporal trends in biomarker concentrations (ln-transformed) were evaluated using linear regression. Biomarkers of pyrethroids (3-PBA and DCCA), chlorpyrifos (TCPy), chlormequat (CCC), thiabendazole (OH-TBZ), and mancozeb (ETU) were detected in >90% of the population all sampling years. The biomarkers CCC and TCPy had the highest median concentrations (>0.8 µg/L), whereas the biomarkers of cyfluthrin (4F-3-PBA) and two pyrethroids (CFCA) had the lowest median concentrations (<0.02 µg/L). Increasing temporal trends were found for the biomarkers 3-PBA (3.7%/year), TCPy (1.7%/year) and biomarkers of pyrimethanil (11.9%/year) and tebuconazole (12.2%/year). Decreasing trends were found for CCC (–5.5%/year), OH-TBZ (−5.5%/year), and ETU (−3.9%/year). Our results suggest that Swedish adolescents are commonly exposed to pesticides in low concentrations (median concentrations <3.88 µg/L).
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| 8. |
- Phillip, Moshe, et al.
(författare)
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Consensus Guidance for Monitoring Individuals With Islet Autoantibody-Positive Pre-Stage 3 Type 1 Diabetes
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Ingår i: Diabetes Care. - 1935-5548.
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Tidskriftsartikel (refereegranskat)abstract
- Given the proven benefits of screening to reduce diabetic ketoacidosis (DKA) likelihood at the time of stage 3 type 1 diabetes diagnosis, and emerging availability of therapy to delay disease progression, type 1 diabetes screening programs are being increasingly emphasized. Once broadly implemented, screening initiatives will identify significant numbers of islet autoantibody-positive (IAb+) children and adults who are at risk for (confirmed single IAb+) or living with (multiple IAb+) early-stage (stage 1 and stage 2) type 1 diabetes. These individuals will need monitoring for disease progression; much of this care will happen in nonspecialized settings. To inform this monitoring, JDRF, in conjunction with international experts and societies, developed consensus guidance. Broad advice from this guidance includes the following: 1) partnerships should be fostered between endocrinologists and primary care providers to care for people who are IAb+; 2) when people who are IAb+ are initially identified, there is a need for confirmation using a second sample; 3) single IAb+ individuals are at lower risk of progression than multiple IAb+ individuals; 4) individuals with early-stage type 1 diabetes should have periodic medical monitoring, including regular assessments of glucose levels, regular education about symptoms of diabetes and DKA, and psychosocial support; 5) interested people with stage 2 type 1 diabetes should be offered trial participation or approved therapies; and 6) all health professionals involved in monitoring and care of individuals with type 1 diabetes have a responsibility to provide education. The guidance also emphasizes significant unmet needs for further research on early-stage type 1 diabetes to increase the rigor of future recommendations and inform clinical care.
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| 9. |
- Phillip, Moshe, et al.
(författare)
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Consensus guidance for monitoring individuals with islet autoantibody-positive pre-stage 3 type 1 diabetes
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Ingår i: Diabetologia. - 1432-0428.
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Tidskriftsartikel (refereegranskat)abstract
- Given the proven benefits of screening to reduce diabetic ketoacidosis (DKA) likelihood at the time of stage 3 type 1 diabetes diagnosis, and emerging availability of therapy to delay disease progression, type 1 diabetes screening programmes are being increasingly emphasised. Once broadly implemented, screening initiatives will identify significant numbers of islet autoantibody-positive (IAb+) children and adults who are at risk of (confirmed single IAb+) or living with (multiple IAb+) early-stage (stage 1 and stage 2) type 1 diabetes. These individuals will need monitoring for disease progression; much of this care will happen in non-specialised settings. To inform this monitoring, JDRF in conjunction with international experts and societies developed consensus guidance. Broad advice from this guidance includes the following: (1) partnerships should be fostered between endocrinologists and primary-care providers to care for people who are IAb+; (2) when people who are IAb+ are initially identified there is a need for confirmation using a second sample; (3) single IAb+ individuals are at lower risk of progression than multiple IAb+ individuals; (4) individuals with early-stage type 1 diabetes should have periodic medical monitoring, including regular assessments of glucose levels, regular education about symptoms of diabetes and DKA, and psychosocial support; (5) interested people with stage 2 type 1 diabetes should be offered trial participation or approved therapies; and (6) all health professionals involved in monitoring and care of individuals with type 1 diabetes have a responsibility to provide education. The guidance also emphasises significant unmet needs for further research on early-stage type 1 diabetes to increase the rigour of future recommendations and inform clinical care.
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| 10. |
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