| 1. |
- Lango Allen, Hana, et al.
(författare)
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Hundreds of variants clustered in genomic loci and biological pathways affect human height.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
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Tidskriftsartikel (refereegranskat)abstract
- Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
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| 2. |
- Brahim, Lydia Ould, et al.
(författare)
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The effects of self-management interventions on depressive symptoms in adults with chronic physical disease(s) experiencing depressive symptomatology : a systematic review and meta-analysis
- 2021
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Ingår i: BMC Psychiatry. - : BioMed Central (BMC). - 1471-244X. ; 21:1
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Forskningsöversikt (refereegranskat)abstract
- Background Chronic diseases are the leading cause of death worldwide. It is estimated that 20% of adults with chronic physical diseases experience concomitant depression, increasing their risk of morbidity and mortality. Low intensity psychosocial interventions, such as self-management, are part of recommended treatment; however, no systematic review has evaluated the effects of depression self-management interventions for this population. The primary objective was to examine the effect of self-management interventions on reducing depressive symptomatology in adults with chronic disease(s) and co-occurring depressive symptoms. Secondary objectives were to evaluate the effect of these interventions on improving other psychosocial and physiological outcomes (e.g., anxiety, glycemic control) and to assess potential differential effect based on key participant and intervention characteristics (e.g., chronic disease, provider). Methods Studies comparing depression self-management interventions to a control group were identified through a) systematic searches of databases to June 2018 [MEDLINE (1946 -), EMBASE (1996 -), PsycINFO (1967 -), CINAHL (1984 -)] and b) secondary 'snowball' search strategies. The methodological quality of included studies was critically reviewed. Screening of all titles, abstracts, and full texts for eligibility was assessed independently by two authors. Data were extracted by one author and verified by a second. Results Fifteen studies were retained: 12 for meta-analysis and three for descriptive review. In total, these trials included 2064 participants and most commonly evaluated interventions for people with cancer (n = 7) or diabetes (n = 4). From baseline to < 6-months (T1), the pooled mean effect size was - 0.47 [95% CI -0.73, - 0.21] as compared to control groups for the primary outcome of depression and - 0.53 [95% CI -0.91, - 0.15] at >= 6-months (T2). Results were also significant for anxiety (T1) and glycemic control (T2). Self-management skills of decision-making and taking action were significant moderators of depression at T1. Conclusion Self-management interventions show promise in improving depression and anxiety in those with concomitant chronic physical disease. The findings may contribute to the development of future Self-management interventions and delivering evidence-based care to this population. Further high-quality RCTs are needed to identify sources of heterogeneity and investigate key intervention components.
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| 3. |
- Heyde, C E, et al.
(författare)
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[Fatal complex fracture of the cervical spine in a patient with ankylosing spondylitis after a fall from a racing bicycle]. : Fatale komplexe HWS-Verletzung bei M. Bechterew nach Sturz mit dem Rennrad.
- 2007
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Ingår i: Sportverletzung Sportschaden : Organ der Gesellschaft fur Orthopadisch-Traumatologische Sportmedizin. - : Georg Thieme Verlag KG. - 0932-0555. ; 21:3, s. 148-51
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Forskningsöversikt (refereegranskat)abstract
- Patients with ankylosing spondylitis are endangered suffering from cervical spine fractures following falls caused by kyphosis, stiffness and osteoporotic bone quality of the spine. Risk sustaining neurological deficits is higher than average. We present a patient with ankylosing spondylitis, who was admitted to our hospital with a complex fracture pattern of the cervical spine after a fall from a racing cycle. In spite of early operative treatment the patient died in the follow up because of severe hypoxic brain damage. We discuss the area of conflict between the recommendation for sport activities in patients with ankylosing spondylitis and the resulting risks for the diseased spine.
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| 4. |
- Heyde, Christoph E, et al.
(författare)
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Fatale komplexe HWS-Verletzung bei M. Bechterew nach Sturz mit dem Rennrad
- 2007
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Ingår i: Sportverletzung, Sportschaden. - : Georg Thieme Verlag KG. - 0932-0555 .- 1439-1236. ; 21:3, s. 148-151
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Tidskriftsartikel (refereegranskat)abstract
- Patienten mit ankylosierender Spondylitis sind durch die Kyphose, die Einsteifung und den häufig osteoporotischen Knochen der Wirbelsäule im Rahmen von Stürzen für Verletzungen der Halswirbelsäule besonders prädestiniert. Dabei besteht ein überdurchschnittlich hohes Risiko für neurologische Komplikationen. Vorgestellt wird ein Patient mit M. Bechterew, der bei einem Sturz mit dem Rennrad eine komplexe HWS-Verletzung erlitt. Trotz umgehender operativer Versorgung kam es im weiteren Verlauf zum Tod des Patienten durch einen schweren hypoxischen Hirnschaden. Vor dem Hintergrund dieses fatalen Verlaufes sollen die Empfehlungen zur sportlichen Betätigung bei M. Bechterew und die sich daraus für die veränderte Wirbelsäule ergebenden Gefahren diskutiert werden.
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| 5. |
- Heyde, Christoph-E, et al.
(författare)
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Pitfalls and complications in the treatment of cervical spine fractures in patients with ankylosing spondylitis.
- 2008
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Ingår i: Patient safety in surgery. - : Springer Science and Business Media LLC. - 1754-9493. ; 2
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Forskningsöversikt (refereegranskat)abstract
- Patients with ankylosing spondylitis are at significant risk for sustaining cervical spine injuries following trauma predisposed by kyphosis, stiffness and osteoporotic bone quality of the spine. The risk of sustaining neurological deficits in this patient population is higher than average. The present review article provides an outline on the specific injury patterns in the cervical spine, diagnostic algorithms and specific treatment modalities dictated by the underlying disease in patients with ankylosing spondylitis. An emphasis is placed on the risks and complication patterns in the treatment of these rare, but challenging injuries.
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| 6. |
- Ingegnoli, Francesca, et al.
(författare)
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A comparison between nailfold capillaroscopy patterns in adulthood in juvenile and adult-onset systemic sclerosis: A EUSTAR exploratory study
- 2015
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Ingår i: Microvascular Research. - : Elsevier BV. - 1095-9319 .- 0026-2862. ; 102, s. 19-24
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Qualitative capillaroscopy patterns in juvenile- and adult-onset systemic sclerosis (SSc) were studied in adulthood using data from the EULAR Scleroderma Trials and Research (EUSTAR) database. Methods: Data collected between June 2004 and April 2013 were examined with focus on capillaroscopy. In this retrospective exploratory study, series of patients with juvenile-onset SSc were matched with series of adult-onset SSc having the same gender and autoantibody profile. Results: 30 of 123 patients with juvenile-onset and 2108 of 7133 with adult-onset SSc had data on capillaroscopy. Juvenile-onset SSc showed scleroderma pattern more frequently than adult-onset SSc (93.3% and 88%). The OR was 2.44 and 95% Cl 0.57-10.41. An active scleroderma pattern was present in 58% of juvenile- and 61% of adult-onset SSc. The OR was 0.91 and 95% Cl 0.28-2.93. The late scleroderma pattern was present in 61% of juvenile- and 55.5% of adult-onset SSc. The OR was 1.06 and 95% Cl 0.34-3.56. Conclusion: This is the first exploratory study on the comparison of capillaroscopy between juvenile- and adult-onset SSc in adulthood. Juvenile-onset SSc had an increase prevalence of sderoderma pattern, but a similar distribution of the three patterns was suggested. Further studies are needed to define this issue. (C) 2015 Elsevier Inc. All rights reserved.
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| 7. |
- Ingegnoli, Francesca, et al.
(författare)
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Nailfold capillaroscopy in systemic sclerosis: Data from the EULAR scleroderma trials and research (EUSTAR) database
- 2013
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Ingår i: Microvascular Research. - : Elsevier BV. - 1095-9319 .- 0026-2862. ; 89, s. 122-128
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The aims of this study were to obtain cross-sectional data on capillaroscopy in an international multi-center cohort of Systemic Sclerosis (SSc) and to investigate the frequency of the capillaroscopic patterns and their disease-phenotype associations. Methods: Data collected between June 2004 and October 2011 in the EULAR Scleroderma Trials and Research (EUSTAR) registry were examined. Patients' profiles based on clinical and laboratory data were obtained by cluster analysis and the association between profiles and capillaroscopy was investigated by multinomial logistic regression. Results: 62 of the 110 EUSTAR centers entered data on capillaroscopy in the EUSTAR database. 376 of the 2754 patients (13.65%) were classified as scleroderma pattern absent, but non-specific capillary abnormalities were noted in 55.48% of the cases. Four major patients' profiles were identified characterized by a progressive severity for skin involvement, as well as an increased number of systemic manifestations. The "early" and "active" scleroderma patterns were generally observed in patients with mild/moderate skin involvement and a low number of disease manifestations, while the "late" scleroderma pattern was found more frequently in the more severe forms of the disease. Conclusion: These data indicate the importance of capillaroscopy in SSc management and that capillaroscopic patterns are directly related to the extent of organ involvement. (C) 2013 Elsevier Inc. All rights reserved.
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| 8. |
- Lambert, Sylvie, et al.
(författare)
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Non-pharmacological Interventions for Caregivers with Depression and Caregivers of Care Recipients with Co-morbid Depression : Systematic Review and Meta-analysis
- 2021
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Ingår i: Journal of general internal medicine. - : Springer Nature. - 0884-8734 .- 1525-1497. ; 36:10, s. 3159-3178
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Tidskriftsartikel (refereegranskat)abstract
- Background: Caregivers experiencing depression or caring for people experiencing depression are at risk of high burden. This systematic review examined the effect of non-pharmacological interventions for caregivers that (a) target improving caregivers' depressive symptoms, (b) help caregivers manage the depressive symptoms of the person for whom they provide care, or (c) both (a) and (b).Methods: Eligible trials published between January 1, 1985, and May 30, 2019 were retrieved from five electronic databases. The studies' methodological quality was assessed against 15 criteria. Pooled effect sizes (ESs) were calculated, and heterogeneity assessed using the Higgin's I2 statistic. Meta-regressions were also conducted to identify significant moderators (participant sub-group analyses) and mediators (identify how the interventions worked).Results: Sixteen studies evaluating 18 interventions were included for review. These studies included a total of 2178 participants (mean = 94, SD = 129.18, range 25-518). The most common condition (n = 10/16) of the care recipient was dementia. The average methodological score was in the moderate range (8.76/15). Interventions had a moderate effect on caregivers' depression in the short term (ES = - 0.62, 95% CI - 0.81, - 0.44), but the effect dissipated over time (ES = - 0.19; 95% CI - 0.29, - 0.09). A similar pattern was noted for anxiety. The moderator analysis was not significant, and of the mediators examined, significant ones were self-management skills of taking action, problem solving, and decision-making.Discussion: Non-pharmacological interventions are associated with improvement of depression and anxiety in caregivers, particularly in the short term. The main recommendation for future interventions is to include the self-management skills taking action, problem-solving, and decision-making. Enhancing the effect of these interventions will need to be the focus of future studies, particularly examining the impact of booster sessions. More research is needed on non-dementia caregiving and dyadic approaches.
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