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| 2. |
- de Jong, S, et al.
(författare)
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
- 2018
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1, s. 163-
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Tidskriftsartikel (refereegranskat)abstract
- Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
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| 7. |
- Czamara, D, et al.
(författare)
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Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 2548-
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Tidskriftsartikel (refereegranskat)abstract
- Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms allowing integration of genetic and environmental factors to shape cellular function. While many studies have investigated either environmental or genetic contributions to DNAm, few have assessed their integrated effects. Here we examine the relative contributions of prenatal environmental factors and genotype on DNA methylation in neonatal blood at variably methylated regions (VMRs) in 4 independent cohorts (overall n = 2365). We use Akaike’s information criterion to test which factors best explain variability of methylation in the cohort-specific VMRs: several prenatal environmental factors (E), genotypes in cis (G), or their additive (G + E) or interaction (GxE) effects. Genetic and environmental factors in combination best explain DNAm at the majority of VMRs. The CpGs best explained by either G, G + E or GxE are functionally distinct. The enrichment of genetic variants from GxE models in GWAS for complex disorders supports their importance for disease risk.
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| 8. |
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| 9. |
- Arnau-Soler, A, et al.
(författare)
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Genome-wide by environment interaction studies of depressive symptoms and psychosocial stress in UK Biobank and Generation Scotland
- 2019
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Ingår i: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 9:1, s. 14-
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Tidskriftsartikel (refereegranskat)abstract
- Stress is associated with poorer physical and mental health. To improve our understanding of this link, we performed genome-wide association studies (GWAS) of depressive symptoms and genome-wide by environment interaction studies (GWEIS) of depressive symptoms and stressful life events (SLE) in two UK population-based cohorts (Generation Scotland and UK Biobank). No SNP was individually significant in either GWAS, but gene-based tests identified six genes associated with depressive symptoms in UK Biobank (DCC, ACSS3, DRD2, STAG1, FOXP2 and KYNU; p < 2.77 × 10−6). Two SNPs with genome-wide significant GxE effects were identified by GWEIS in Generation Scotland: rs12789145 (53-kb downstream PIWIL4; p = 4.95 × 10−9; total SLE) and rs17070072 (intronic to ZCCHC2; p = 1.46 × 10−8; dependent SLE). A third locus upstream CYLC2 (rs12000047 and rs12005200, p < 2.00 × 10−8; dependent SLE) when the joint effect of the SNP main and GxE effects was considered. GWEIS gene-based tests identified: MTNR1B with GxE effect with dependent SLE in Generation Scotland; and PHF2 with the joint effect in UK Biobank (p < 2.77 × 10−6). Polygenic risk scores (PRSs) analyses incorporating GxE effects improved the prediction of depressive symptom scores, when using weights derived from either the UK Biobank GWAS of depressive symptoms (p = 0.01) or the PGC GWAS of major depressive disorder (p = 5.91 × 10−3). Using an independent sample, PRS derived using GWEIS GxE effects provided evidence of shared aetiologies between depressive symptoms and schizotypal personality, heart disease and COPD. Further such studies are required and may result in improved treatments for depression and other stress-related conditions.
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| 14. |
- Jepsen, S, et al.
(författare)
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Regenration of alveolar ridge defects : Consensus report of group 4 of the 15th European Workshop on Periodontology on Bone Regeneration
- 2019
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Ingår i: Journal of Clinical Periodontology. - 0303-6979 .- 1600-051X. ; 46, s. 277-286
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND AIMS: Bone augmentation procedures to enable dental implant placement are frequently performed. The remit of this working group was to evaluate the current evidence on the efficacy of regenerative measures for the reconstruction of alveolar ridge defects.MATERIAL AND METHODS: The discussions were based on four systematic reviews focusing on lateral bone augmentation with implant placement at a later stage, vertical bone augmentation, reconstructive treatment of peri-implantitis associated defects, and long-term results of lateral window sinus augmentation procedures.RESULTS: A substantial body of evidence supports lateral bone augmentation prior to implant placement as a predictable procedure in order to gain sufficient ridge width for implant placement. Also, vertical ridge augmentation procedures were in many studies shown to be effective in treating deficient alveolar ridges to allow for dental implant placement. However, for both procedures the rate of associated complications was high. The adjunctive benefit of reconstructive measures for the treatment of peri-implantitis-related bone defects has only been assessed in a few RCTs. Meta-analyses demonstrated a benefit with regard to radiographic bone gain but not for clinical outcomes. Lateral window sinus floor augmentation was shown to be a reliable procedure in the long-term for the partially and fully edentulous maxilla.CONCLUSIONS: The evaluated bone augmentation procedures were proven to be effective for the reconstruction of alveolar ridge defects. However, some procedures are demanding and bear a higher risk for postoperative complications. This article is protected by copyright. All rights reserved.
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| 15. |
- Berglundh, Tord, 1954, et al.
(författare)
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Peri-implant diseases and conditions: Consensus report of workgroup 4 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions
- 2018
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Ingår i: J Clin Periodontol. - : Wiley. - 0303-6979 .- 1600-051X. ; 45
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Tidskriftsartikel (refereegranskat)abstract
- A classification for peri-implant diseases and conditions was presented. Focused questions on the characteristics of peri-implant health, peri-implant mucositis, peri-implantitis, and soft- and hard-tissue deficiencies were addressed. Peri-implant health is characterized by the absence of erythema, bleeding on probing, swelling, and suppuration. It is not possible to define a range of probing depths compatible with health; Peri-implant health can exist around implants with reduced bone support. The main clinical characteristic of peri-implant mucositis is bleeding on gentle probing. Erythema, swelling, and/or suppuration may also be present. An increase in probing depth is often observed in the presence of peri-implant mucositis due to swelling or decrease in probing resistance. There is strong evidence from animal and human experimental studies that plaque is the etiological factor for peri-implant mucositis. Peri-implantitis is a plaque-associated pathological condition occurring in tissues around dental implants, characterized by inflammation in the peri-implant mucosa and subsequent progressive loss of supporting bone. Peri-implantitis sites exhibit clinical signs of inflammation, bleeding on probing, and/or suppuration, increased probing depths and/or recession of the mucosal margin in addition to radiographic bone loss. The evidence is equivocal regarding the effect of keratinized mucosa on the long-term health of the peri-implant tissue. It appears, however, that keratinized mucosa may have advantages regarding patient comfort and ease of plaque removal. Case definitions in day-to-day clinical practice and in epidemiological or disease-surveillance studies for peri-implant health, peri-implant mucositis, and peri-implantitis were introduced. The proposed case definitions should be viewed within the context that there is no generic implant and that there are numerous implant designs with different surface characteristics, surgical and loading protocols. It is recommended that the clinician obtain baseline radiographic and probing measurements following the completion of the implant-supported prosthesis.
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| 16. |
- Berglundh, Tord, 1954, et al.
(författare)
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Peri-implant diseases and conditions: Consensus report of workgroup 4 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions
- 2018
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Ingår i: Journal of Periodontology. - : Wiley. - 0022-3492. ; 89
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Tidskriftsartikel (refereegranskat)abstract
- A classification for peri-implant diseases and conditions was presented. Focused questions on the characteristics of peri-implant health, peri-implant mucositis, peri-implantitis, and soft- and hard-tissue deficiencies were addressed. Peri-implant health is characterized by the absence of erythema, bleeding on probing, swelling, and suppuration. It is not possible to define a range of probing depths compatible with health; Peri-implant health can exist around implants with reduced bone support. The main clinical characteristic of peri-implant mucositis is bleeding on gentle probing. Erythema, swelling, and/or suppuration may also be present. An increase in probing depth is often observed in the presence of peri-implant mucositis due to swelling or decrease in probing resistance. There is strong evidence from animal and human experimental studies that plaque is the etiological factor for peri-implant mucositis. Peri-implantitis is a plaque-associated pathological condition occurring in tissues around dental implants, characterized by inflammation in the peri-implant mucosa and subsequent progressive loss of supporting bone. Peri-implantitis sites exhibit clinical signs of inflammation, bleeding on probing, and/or suppuration, increased probing depths and/or recession of the mucosal margin in addition to radiographic bone loss. The evidence is equivocal regarding the effect of keratinized mucosa on the long-term health of the peri-implant tissue. It appears, however, that keratinized mucosa may have advantages regarding patient comfort and ease of plaque removal. Case definitions in day-to-day clinical practice and in epidemiological or disease-surveillance studies for peri-implant health, peri-implant mucositis, and peri-implantitis were introduced. The proposed case definitions should be viewed within the context that there is no generic implant and that there are numerous implant designs with different surface characteristics, surgical and loading protocols. It is recommended that the clinician obtain baseline radiographic and probing measurements following the completion of the implant-supported prosthesis.
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| 17. |
- Jepsen, S., et al.
(författare)
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Regeneration of alveolar ridge defects. Consensus report of group 4 of the 15th European Workshop on Periodontology on Bone Regeneration
- 2019
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Ingår i: Journal of Clinical Periodontology. - : Wiley. - 0303-6979 .- 1600-051X. ; 46, s. 277-286
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Tidskriftsartikel (refereegranskat)abstract
- Background and Aims Bone augmentation procedures to enable dental implant placement are frequently performed. The remit of this working group was to evaluate the current evidence on the efficacy of regenerative measures for the reconstruction of alveolar ridge defects. Material and Methods The discussions were based on four systematic reviews focusing on lateral bone augmentation with implant placement at a later stage, vertical bone augmentation, reconstructive treatment of peri-implantitis associated defects, and long-term results of lateral window sinus augmentation procedures. Results A substantial body of evidence supports lateral bone augmentation prior to implant placement as a predictable procedure in order to gain sufficient ridge width for implant placement. Also, vertical ridge augmentation procedures were in many studies shown to be effective in treating deficient alveolar ridges to allow for dental implant placement. However, for both procedures the rate of associated complications was high. The adjunctive benefit of reconstructive measures for the treatment of peri-implantitis-related bone defects has only been assessed in a few RCTs. Meta-analyses demonstrated a benefit with regard to radiographic bone gain but not for clinical outcomes. Lateral window sinus floor augmentation was shown to be a reliable procedure in the long term for the partially and fully edentulous maxilla. Conclusions The evaluated bone augmentation procedures were proven to be effective for the reconstruction of alveolar ridge defects. However, some procedures are demanding and bear a higher risk for post-operative complications.
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| 18. |
- Vermeer, Nina C. A., et al.
(författare)
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Treatment and Survival of Patients with Colon Cancer Aged 80 Years and Older : A EURECCA International Comparison
- 2018
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Ingår i: The Oncologist. - : Wiley-Blackwell. - 1083-7159 .- 1549-490X. ; 23:8, s. 982-990
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Tidskriftsartikel (refereegranskat)abstract
- Background. Colon cancer in older patients represents a major public health issue. As older patients are hardly included in clinical trials, the optimal treatment of these patients remains unclear. The present international EURECCA comparison explores possible associations between treatment and survival outcomes in elderly colon cancer patients.Subjects, Materials, and Methods. National data from Belgium, Denmark, The Netherlands, Norway, and Sweden were obtained, as well as a multicenter surgery cohort from Germany. Patients aged 80 years and older, diagnosed with colon cancer between 2001 and 2010, were included. The study interval was divided into two periods: 2001–2006 and 2007–2010. The proportion of surgical treatment and chemotherapy within a country and its relation to relative survival were calculated for each time frame.Results. Overall, 50,761 patients were included. At least 94% of patients with stage II and III colon cancer underwent surgical removal of the tumor. For stage II–IV, the proportion of chemotherapy after surgery was highest in Belgium and lowest in The Netherlands and Norway. For stage III, it varied from 24.8% in Belgium and 3.9% in Norway. For stage III, a better adjusted relative survival between 2007 and 2010 was observed in Sweden (adjusted relative excess risk [RER] 0.64, 95% confidence interval [CI]: 0.54–0.76) and Norway (adjusted RER 0.81, 95% CI: 0.69–0.96) compared with Belgium.Conclusion. There is substantial variation in the rate of treatment and survival between countries for patients with colon cancer aged 80 years or older. Despite higher prescription of adjuvant chemotherapy, poorer survival outcomes were observed in Belgium. No clear linear pattern between the proportion of chemotherapy and better adjusted relative survival was observed.
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| 19. |
- Derks, I. P. M., et al.
(författare)
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Testing Bidirectional Associations Between Childhood Aggression and BMI: Results from Three Cohorts
- 2019
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Ingår i: Obesity. - : Wiley. - 1930-7381 .- 1930-739X. ; 27:5, s. 822-829
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Tidskriftsartikel (refereegranskat)abstract
- Objective This study examined the prospective, potentially bidirectional association of aggressive behavior with BMI and body composition across childhood in three population-based cohorts. Methods Repeated measures of aggression and BMI were available from the Generation R Study between ages 6 and 10 years (N = 3,974), the Netherlands Twin Register (NTR) between ages 7 and 10 years (N = 10,328), and the Swedish Twin Study of Child and Adolescent Development (TCHAD) between ages 9 and 14 years (N = 1,462). In all samples, aggression was assessed with the Child Behavior Checklist. Fat mass and fat-free mass were available in the Generation R Study. Associations were examined with cross-lagged modeling. Results Aggressive behavior at baseline was associated with higher BMI at follow-up in the Generation R Study (beta = 0.02, 95% CI: 0.00 to 0.04), in NTR (beta = 0.04, 95% CI: 0.02 to 0.06), and in TCHAD (beta = 0.03, 95% CI: -0.02 to 0.07). Aggressive behavior was prospectively associated with higher fat mass (beta = 0.03, 95% CI: 0.01 to 0.05) but not fat-free mass. There was no evidence that BMI or body composition preceded aggressive behavior. Conclusions More aggressive behavior was prospectively associated with higher BMI and fat mass. This suggests that aggression contributes to the obesity problem, and future research should study whether these behavioral pathways to childhood obesity are modifiable.
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| 20. |
- Klinge, Björn, et al.
(författare)
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Dental implant register: Summary and consensus statements of group 2. The 5th EAO Consensus Conference 2018
- 2018
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Ingår i: Clinical Oral Implants Research. - : Wiley. - 0905-7161 .- 1600-0501. ; 29:Supplement: 18, s. 157-159
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: This publication reports the EAO Workshop group-2 and consensus plenary discussions and statements on a narrative review providing the background and possible facilities and importance of a dental implant register, to allow for a systematic follow-up of the clinical outcome of dental implant treatment in various clinical settings. It should be observed that the format of the review and the subsequent consensus report consciously departs from conventional consensus publications and reports. Material and methods: The publication was a narrative review on the presence and significance of quality registers regarding select medical conditions and procedures. The group discussed and evaluated the publication and made corrections and recommendations to the authors and agreed on the statements and recommendations described in this consensus report. Results: Possible registrations to be included in an implant register were discussed and agreed as a preliminary basis for further development, meaning that additional parameters be included or some be deleted. Conclusions: It was agreed to bring the idea of an implant quality register, including the presented results of discussions and proposals by the group- and plenary sessions, to the EAO Board for further discussion and decision.
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| 21. |
- Sanz, M., et al.
(författare)
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Biological aspects: Summary and consensus statements of group 2. The 5th EAO Consensus Conference 2018
- 2018
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Ingår i: Clinical Oral Implants Research. - : Wiley. - 0905-7161 .- 1600-0501. ; 29:Supplement: 18, s. 152-156
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: This publication reports the EAO Workshop group-2 discussions and consensus statements which provided the scientific evidence on the influence of biological parameters on implant-related clinical outcomes. Material and methods: The first publication was a systematic review on the biological effects of abutment material on the stability of peri-implant marginal bone levels and the second, a critical narrative review on how peri-implant diagnostic parameters correspond with long-term implant survival and success. The group evaluated the content of both publications, made corrections and recommendations to the authors and agreed on the consensus statements, clinical recommendations and recommendations for future research, which are described in this consensus report. Results: Tested abutment materials can be considered appropriate for clinical use according to the observation period studied (mean 3.5 years). Mean peri-implant bone loss and mean probing pocket depths are not adequate outcomes to study the prevalence of peri-implantitis, while the reporting of frequency distributions is considered more appropriate. Conclusions: Titanium is currently considered the standard of care as abutment material, although other materials may be more suitable for aesthetic locations. Peri-implantitis should be diagnosed through composite evaluations of peri-implant tissue inflammation and assessment of marginal bone loss with different thresholds.
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