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| 4. |
- Denomme-Pichon, AS, et al.
(författare)
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Solve-RD: the ITHACA perspective
- 2022
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Ingår i: EUROPEAN JOURNAL OF HUMAN GENETICS. - 1018-4813. ; 30:SUPPL 1, s. 236-237
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 5. |
- Dures, E., et al.
(författare)
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2023 EULAR recommendations for the management of fatigue in people with inflammatory rheumatic and musculoskeletal diseases
- 2023
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Ingår i: Annals of the Rheumatic Diseases. - 0003-4967 .- 1468-2060.
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Tidskriftsartikel (refereegranskat)abstract
- Objectives Fatigue is prevalent in people with inflammatory rheumatic and musculoskeletal diseases (I-RMDs) and recognised as one of the most challenging symptoms to manage. The existence of multiple factors associated with driving and maintaining fatigue, and the evidence about what improves fatigue has led to a multifaceted approach to its management. However, there are no recommendations for fatigue management in people with I-RMDs. This lack of guidance is challenging for those living with fatigue and health professionals delivering clinical care. Therefore, our aim was to develop EULAR recommendations for the management of fatigue in people with I-RMDs.Methods A multidisciplinary taskforce comprising 26 members from 14 European countries was convened, and two systematic reviews were conducted. The taskforce developed the recommendations based on the systematic review of evidence supplemented with taskforce members' experience of fatigue in I-RMDs.Results Four overarching principles (OAPs) and four recommendations were developed. OAPs include health professionals' awareness that fatigue encompasses multiple biological, psychological and social factors which should inform clinical care. Fatigue should be monitored and assessed, and people with I-RMDs should be offered management options. Recommendations include offering tailored physical activity and/or tailored psychoeducational interventions and/or, if clinically indicated, immunomodulatory treatment initiation or change. Patient-centred fatigue management should consider the individual's needs and preferences, their clinical disease activity, comorbidities and other psychosocial and contextual factors through shared decision-making.Conclusions These 2023 EULAR recommendations provide consensus and up-to-date guidance on fatigue management in people with I-RMDs.
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- Neumann, A, et al.
(författare)
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A genome-wide association study of total child psychiatric problems scores
- 2022
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Ingår i: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 17:8, s. e0273116-
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Tidskriftsartikel (refereegranskat)abstract
- Substantial genetic correlations have been reported across psychiatric disorders and numerous cross-disorder genetic variants have been detected. To identify the genetic variants underlying general psychopathology in childhood, we performed a genome-wide association study using a total psychiatric problem score. We analyzed 6,844,199 common SNPs in 38,418 school-aged children from 20 population-based cohorts participating in the EAGLE consortium. The SNP heritability of total psychiatric problems was 5.4% (SE = 0.01) and two loci reached genome-wide significance: rs10767094 and rs202005905. We also observed an association of SBF2, a gene associated with neuroticism in previous GWAS, with total psychiatric problems. The genetic effects underlying the total score were shared with common psychiatric disorders only (attention-deficit/hyperactivity disorder, anxiety, depression, insomnia) (rG > 0.49), but not with autism or the less common adult disorders (schizophrenia, bipolar disorder, or eating disorders) (rG < 0.01). Importantly, the total psychiatric problem score also showed at least a moderate genetic correlation with intelligence, educational attainment, wellbeing, smoking, and body fat (rG > 0.29). The results suggest that many common genetic variants are associated with childhood psychiatric symptoms and related phenotypes in general instead of with specific symptoms. Further research is needed to establish causality and pleiotropic mechanisms between related traits.
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| 13. |
- Bergemalm, Daniel, 1977-, et al.
(författare)
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Systemic Inflammation in Preclinical Ulcerative Colitis
- 2021
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Ingår i: Gastroenterology. - : AGA Institute. - 0016-5085 .- 1528-0012. ; 161:5, s. 1526-1539.e9
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Tidskriftsartikel (refereegranskat)abstract
- Background & Aims: Preclinical ulcerative colitis is poorly defined. We aimed to characterize the preclinical systemic inflammation in ulcerative colitis, using a comprehensive set of proteins.Methods: We obtained plasma samples biobanked from individuals who developed ulcerative colitis later in life (n = 72) and matched healthy controls (n = 140) within a population-based screening cohort. We measured 92 proteins related to inflammation using a proximity extension assay. The biologic relevance of these findings was validated in an inception cohort of patients with ulcerative colitis (n = 101) and healthy controls (n = 50). To examine the influence of genetic and environmental factors on these markers, a cohort of healthy twin siblings of patients with ulcerative colitis (n = 41) and matched healthy controls (n = 37) were explored.Results: Six proteins (MMP10, CXCL9, CCL11, SLAMF1, CXCL11 and MCP-1) were up-regulated (P < .05) in preclinical ulcerative colitis compared with controls based on both univariate and multivariable models. Ingenuity Pathway Analyses identified several potential key regulators, including interleukin-1β, tumor necrosis factor, interferon-gamma, oncostatin M, nuclear factor-κB, interleukin-6, and interleukin-4. For validation, we built a multivariable model to predict disease in the inception cohort. The model discriminated treatment-naïve patients with ulcerative colitis from controls with leave-one-out cross-validation (area under the curve = 0.92). Consistently, MMP10, CXCL9, CXCL11, and MCP-1, but not CCL11 and SLAMF1, were significantly up-regulated among the healthy twin siblings, even though their relative abundances seemed higher in incident ulcerative colitis.Conclusions: A set of inflammatory proteins are up-regulated several years before a diagnosis of ulcerative colitis. These proteins were highly predictive of an ulcerative colitis diagnosis, and some seemed to be up-regulated already at exposure to genetic and environmental risk factors.
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| 17. |
- Dicko, Cedric, et al.
(författare)
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NUrF-Optimization of in situ UV-vis and fluorescence and autonomous characterization techniques with small-angle neutron scattering instrumentation
- 2020
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Ingår i: Review of Scientific Instruments. - : AMER INST PHYSICS. - 0034-6748 .- 1089-7623. ; 91:7
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Tidskriftsartikel (refereegranskat)abstract
- We have designed, built, and validated a (quasi)-simultaneous measurement platform called NUrF, which consists of neutron small-angle scattering, UV-visible, fluorescence, and densitometry techniques. In this contribution, we illustrate the concept and benefits of the NUrF setup combined with high-performance liquid chromatography pumps to automate the preparation and measurement of a mixture series of Brij35 nonionic surfactants with perfluorononanoic acid in the presence of a reporter fluorophore (pyrene).
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| 18. |
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| 19. |
- Hammarsjö, A., et al.
(författare)
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
- 2021
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Ingår i: Journal of Human Genetics. - : Springer Nature. - 1434-5161 .- 1435-232X. ; 66:10, s. 995-1008
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Tidskriftsartikel (refereegranskat)abstract
- Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.
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| 20. |
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| 21. |
- Jansson, Anna. K., et al.
(författare)
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Risk and mortality of testicular cancer in patients with neurodevelopmental or other psychiatric disorders
- 2023
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Ingår i: British Journal of Cancer. - : Springer Nature. - 0007-0920 .- 1532-1827. ; 128:12, s. 2261-2269
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundBoth testicular germ cell tumours (TGCT) and neurodevelopmental disorders are associated with urogenital malformations. Few studies have investigated the association between psychiatric disorders and TGCT. We investigated whether history of any psychiatric or neurodevelopmental disorder is associated with increased risk or mortality of TGCT.MethodThis is a nested case-control study including 6166 TGCT patients diagnosed during 1992-2014, individually matched for age and calendar period to 61,660 controls. We calculated odds ratios (ORs) for the association between type of psychiatric diagnoses and TGCT risk. Among the cases, we used a cohort design and calculated hazard ratios (HRs) of the association between psychiatric diagnose and all-cause and TGCT-specific death.ResultsHistory of a neurodevelopmental disorder (attention deficit hyperactivity disorder, autism spectrum disorder and intellectual disabilities) was associated with an increased risk of seminoma (OR: 1.54; 1.09-2.19). Seminoma patients with neurodevelopmental disorders were younger (34 versus 38 years, p = 0.004) and had more stage IV disease (5.4% versus 1.2%) than those without. Psychiatric history overall was not associated with TGCT. Patient history of any psychiatric disorder was associated with an increased all-cause and TGCT-specific death.ConclusionsWe report an association between neurodevelopmental disorders and testicular seminoma, and an increased TGCT-specific mortality for TGCT patients with psychiatric disorders.
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| 27. |
- O'Reilly, L., et al.
(författare)
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Examining protective factors for substance use problems and self-harm behavior during adolescence: A longitudinal co-twin control study
- 2022
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Ingår i: Development and Psychopathology. - : Cambridge University Press (CUP). - 0954-5794 .- 1469-2198. ; 34:5, s. 1781-1802
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Tidskriftsartikel (refereegranskat)abstract
- Sports participation, physical activity, and friendship quality are theorized to have protective effects on the developmental emergence of substance use and self-harm behavior in adolescence, but existing research has been mixed. This ambiguity could reflect, in part, the potential for confounding of observed associations by genetic and environmental factors, which previous research has been unable to rigorously rule out. We used data from the prospective, population-based Child and Adolescent Twin Study in Sweden (n = 18,234 born 1994-2001) and applied a co-twin control design to account for potential genetic and environmental confounding of sports participation, physical activity, and friendship quality (assessed at age 15) as presumed protective factors for adolescent substance use and self-harm behavior (assessed at age 18). While confidence intervals widened to include the null in numerous co-twin control analyses adjusting for childhood psychopathology, parent-reported sports participation and twin-reported positive friendship quality were associated with increased odds of alcohol problems and nicotine use. However, parent-reported sports participation, twin-reported physical activity, and twin-reported friendship quality were associated with decreased odds of self-harm behavior. The findings provide a more nuanced understanding of the risks and benefits of putative protective factors for risky behaviors that emerge during adolescence.
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| 28. |
- O'Reilly, L. M., et al.
(författare)
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A Co-Twin Control Study of the Association Between Bullying Victimization and Self-Harm and Suicide Attempt in Adolescence
- 2021
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Ingår i: Journal of Adolescent Health. - : Elsevier BV. - 1054-139X .- 1879-1972. ; 69:2, s. 272-279
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The aim of the study was to investigate the magnitude of an independent association between bullying victimization and self-harm and suicide attempt in adolescence after adjusting for unmeasured and measured confounding factors. Methods: Using the Child and Adolescent Twin Study in Sweden, we examined twins born between 1994 and 1999 (n = 13,852). Twins self-reported bullying victimization at age 15 years and self-harm and suicide attempt at age 18 years. We created a factor score of 13 bullying items, on which self-harm and suicide attempt items were regressed in three models: (1) among unrelated individuals; (2) among co-twins, in which a twin exposed to more bullying was compared with his/her co-twin who was exposed to less; and (3) among co-twins while adjusting for indicators of childhood psychopathology. Results: Among unrelated individuals, a one standard deviation increase in bullying victimization was associated with increased odds for self-harm (odds ratio [OR], 1.29 [95% confidence interval, 1.23–1.36]) and suicide attempt (OR, 1.68 [1.53–1.85]). Among co-twins, the odds attenuated for self-harm (OR, 1.19 [1.09–1.30]) and suicide attempt (OR, 1.39 [1.17–1.66]). Finally, when accounting for childhood psychopathology, there was a 14% (1.04–1.25) and 25% (1.03–1.52) relative increase in odds of self-harm and suicide attempt, respectively. Conclusions: The results suggest that bullying victimization was uniquely associated with self-harm and suicide attempt over and above the confounding because of unmeasured and measured factors (i.e., familial vulnerability and pre-existing psychopathy). However, magnitudes were small, suggesting that additional interventions and screenings are needed to address suicidality apart from bullying interventions. © 2020 Society for Adolescent Health and Medicine
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| 29. |
- O'Reilly, L. M., et al.
(författare)
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Sexual orientation and adolescent suicide attempt and self-harm: a co-twin control study
- 2021
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Ingår i: Journal of Child Psychology and Psychiatry. - : Wiley. - 0021-9630 .- 1469-7610. ; 62:7, s. 834-841
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Tidskriftsartikel (refereegranskat)abstract
- Background Research has demonstrated that individuals who identify as a sexual minority (e.g., gay/lesbian, bisexual) are at increased risk for suicidality-related outcomes. However, previous research is primarily limited by the lack of adjustment for unmeasured (i.e., genetic and environmental) confounding factors and previous psychopathology. Methods Using the Child and Adolescent Twin Study in Sweden, we employed a co-twin control design to examine the extent to which the association between sexual orientation and adolescent suicide attempt and self-harm (SA/SH) was independent of genetic and environmental factors shared by twins, as well as measured symptoms of childhood psychopathology. Results Adolescents who identified as a sexual minority (i.e., gay/lesbian, bisexual, or other sexual orientation) were at two-fold increased odds for SA/SH (OR, 2.01 [95% confidence interval, 1.63-2.49) compared to heterosexual adolescents. When adjusting for all genetic and shared environmental factors that make twins similar and for measured childhood psychopathology, the association remained positive but attenuated to OR, 1.55 (1.11-2.16). Conclusions Identifying as a sexual minority was associated with approximately 50% increased odds of SA/SH in adolescence after adjusting for unmeasured genetic and environmental factors shared by twins and for childhood psychopathology. The results support that environmental factors specifically associated with identifying as a sexual minority likely increase risk for SA/SH. Our findings highlight the need to monitor suicidality risk among this group.
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| 30. |
- O'Reilly, L. M., et al.
(författare)
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The Association Between General Childhood Psychopathology and Adolescent Suicide Attempt and Self-Harm: A Prospective, Population-Based Twin Study
- 2020
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Ingår i: Journal of Abnormal Psychology. - : American Psychological Association (APA). - 0021-843X .- 1939-1846. ; 129:4, s. 364-375
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Tidskriftsartikel (refereegranskat)abstract
- Few quantitative behavior genetic studies have examined why psychopathology is associated with suicide attempt (SA) and self-harm (SH) in adolescence. The present study analyzed data from the Child and Adolescent Twin Study in Sweden to examine the extent to which genetic and environmental factors explain SA/SH and its association with psychopathology in childhood, an often-cited risk factor of subsequent SA/SH. When children were 9 or 12 years old (n = 30,444), parents completed the Autism-Tics, AD/HD and other Comorbidities Inventory (Larson et al., 2010) regarding their children's psychiatric problems as part of an ongoing, longitudinal study. At age 18 years (n = 10,269), adolescents completed self-report questionnaires, including SA/SH assessments. In a bifactor model of childhood psychopathology, a general factor of psychopathology was a statistically significant predictor of adolescvnt SA/SH at a higher magnitude (beta, 0.25, 95% confidence interval [CI; 0.15, 0.34] for suicide attempt), as compared with specific factors of inattention, impulsivity, oppositional behavior, and anxiety/emotion symptoms. Quantitative genetic modeling indicated that the additive genetic influences on the general factor accounted for the association with each outcome (beta, 0.24, 95% CI [0.13, 0.34] for suicide attempt). The results remained virtually identical when we fit a higher order factors model. Two additional outcomes demonstrated comparable results. The results extend current literature by revealing the shared genetic overlap between general psychopathology during childhood and adolescent SA/SH.
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| 33. |
- Pitsevich, G. A., et al.
(författare)
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Some useful correlations for H-bonded systems
- 2020
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Ingår i: Molecular Crystals and Liquid Crystals. - : Informa UK Limited. - 1542-1406 .- 1563-5287. ; 696:1, s. 15-28
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Tidskriftsartikel (refereegranskat)abstract
- Structure and spectral characteristics of eight compounds with hydrogen bonds of different strength were calculated at the B3LYP/cc-pVTZ level of theory. A wide range of variation of the hydrogen bond strength in the analyzed compounds allowed us to obtain correlation dependences between the structural characteristics of the hydrogen bridge, the calculated values of the frequencies of stretching vibrations of donor hydroxyl groups, the values of the force constants of hydroxyl and hydrogen bonds, and the dissociation energies of hydrogen bonds. The obtained correlations can be used to evaluate a number of characteristics in compounds with hydrogen bonds.
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| 34. |
- Alves, Dimas, I, et al.
(författare)
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Incoherent Change Detection Methods for Wavelength-Resolution SAR Image Stacks Based on Masking Techniques
- 2020
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Ingår i: 2020 IEEE National Radar Conference - Proceedings. - : IEEE. - 9781728189420
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Konferensbidrag (refereegranskat)abstract
- This paper presents two incoherent change detection methods for wavelength-resolution synthetic aperture radars (SAR) image stacks based on masking techniques. The first technique proposed is the Simple Masking Detection (SMD). This method uses the statistical behavior of pixels-sets in the image stack to create a binary mask, which is used to remove pixels that are not related to changes in a surveillance image from the same interest region. The second technique is the Multiple Concatenated Masking Detection (MCMD), which produces a more selective mask than the SMD by concatenating multiple masks from different image stacks. The MCMD can be used in specific applications where multiple stacks share common patterns of target deployments. Both proposed techniques were evaluated using 24 incoherent SAR images obtained by the CARABAS II system. The experimental results revealed that the proposed detection methods have better performance in terms of probability of detection and false alarm rate when compared with other change detection techniques, especially for high detection probabilities scenarios.
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| 35. |
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| 36. |
- Bakx, Tristan R.M., et al.
(författare)
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Farmland birds occupying forest clear-cuts respond to both local and landscape features
- 2020
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Ingår i: Forest Ecology and Management. - : Elsevier BV. - 0378-1127. ; 478
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Tidskriftsartikel (refereegranskat)abstract
- Agricultural landscapes have changed fast in Europe, which has led to steep declines in farmland biodiversity. While this has differentially impacted “farmland species”, some of these seem to be able to use alternative man-made open habitats in forests, such as forest clear-cuts and powerline rights-of-way. We investigated the use of clear-cuts by two historically declining farmland birds, the Yellowhammer (Emberiza citrinella) and the Red-backed Shrike (Lanius collurio), to determine both local and landscape habitat characteristics of clear-cuts used for breeding. Among 101 clear-cuts visited in Scania, southern Sweden, 27% were occupied by Yellowhammers and 12% by Red-backed Shrikes. Yellowhammer occurrence in clear-cuts was positively related to local spruce cover (the planted tree species). There was also an interaction between clear-cut size and the proportion of farmland in the landscape, such that the positive effect of the proportion of farmland nearby was stronger for larger clear-cuts. Red-backed Shrike occurrence was positively related to clear-cut size and the local presence of piles of forest residues (tops and branches). The relation between occurrence and the proportion of clear-cuts in the landscape was positive for small clear-cuts and negative for larger ones. Yellowhammers and Red-backed shrikes are affected by both the local habitat structure in the clearcut and on the composition of the surrounding landscape, most likely because they use the clear-cut for nesting and the surroundings as complementary feeding habitat. To what extent clear-cuts as complementary breeding habitat to farmland may contribute to the conservation of Yellowhammers and Red-backed shrikes, as well as other farmland birds, is a promising path for future investigations.
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| 37. |
- Bohlin, Jon, et al.
(författare)
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Age and sex effects on DNA methylation sites linked to genes implicated in severe COVID-19 and SARS-CoV-2 host cell entry
- 2022
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 17:6
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Tidskriftsartikel (refereegranskat)abstract
- Male sex and advanced age are associated with severe symptoms of COVID-19. Sex and age also exhibit substantial associations with genome-wide DNA methylation (DNAm) differences in humans. Using a random sample of Illumina EPIC-based genome-wide methylomes from peripheral whole blood of 1,976 parents, participating in The Norwegian Mother, Father and Child Cohort Study (MoBa), we explored whether DNAm in genes linked to SARS-CoV-2 host cell entry and to severe COVID-19 were associated with sex and age. This was carried out by testing 1,572 DNAm sites (CpGs) located near 45 genes for associations with age and sex. We found that DNAm in 281 and 231 of 1,572 CpGs were associated (p(FDR)<0.01) with sex and aging, respectively. CpGs linked to SARS-CoV-2 host cell entry genes were all associated with age and sex, except for the ACE2 receptor gene (located on the X-chromosome), which was only associated with sex (p(FDR)<0.01). Furthermore, we examined whether 1,487 autosomal CpGs associated with host-cell entry and severe COVID-19 were more or less associated with sex and age than what would be expected from the same number of randomly sampled genome-wide CpGs. We found that the CpGs associated with host-cell entry and severe COVID-19 were not more or less associated with sex (R-2 = 0.77, p = 0.09) than the CpGs sampled from random genomic regions; age was actually found to be significantly less so (R-2 = 0.36, p = 0.04). Hence, while we found wide-spread associations between sex and age at CpGs linked to genes implicated with SARS-CoV-2 host cell entry and severe COVID-19, the effect from the sum of these CpGs was not stronger than that from randomly sampled CpGs; for age it was significantly less so. These findings could suggest that advanced age and male sex may not be unsurmountable barriers for the SARS-CoV-2 virus to evolve increased infectiousness.
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| 38. |
- Bostrom, C, et al.
(författare)
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QUALITY OF LIFE IN PEOPLE WITH SYSTEMIC SCLEROSIS WITH DIFFERENT DEGREES OF LUNG DISEASE - A CROSS-SECTIONAL STUDY
- 2020
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Ingår i: ANNALS OF THE RHEUMATIC DISEASES. - : BMJ. - 0003-4967 .- 1468-2060. ; 79, s. 66-66
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- There are few studies evaluating different aspects of quality of life including depressive symptoms and physical capacity and physical activity in patients with systemic sclerosis (SSc) with different degrees of lung disease.Objectives:The aim of this study was to evaluate differences in self-reported disability, physical capacity and activity, depressive symptoms and quality of life, between patients with SSc with no-mild lung disease and those with moderate-endstage lung disease.Methods:In this cross-sectional study, 279 patients with SSc fulfilling the 2013 ACR/EULAR criteria for SSc (84% limited and 16% diffuse SSc) were included. Medsger disease severity scale was used to subgroup the patients into no-mild (n=156) or moderate- endstage lung disease (n=115). Disability was measured with Health Assessment Questionnaire-Disability Index (HAQ-DI); physical capacity (ability to walk, jog/run); and physical activity (different intensities) was measured with three single questions; depressive symptoms with Hospital Anxiety and Depression-scale (HADs); and quality of life was measured with TheShort Form(36) Health Survey (SF-36).Results:Patients with moderate-endstage lung disease reported higher scores on HAQ-DI (p<0.001) and lower scores on SF-36 physical component (p<0.0001) than patients with no-mild lung disease. Patients with moderate-endstage lung disease reported lower physical capacity (p<0.0001), less physical activity on low to moderate intensity the past 6 months (p<0.016) and less exercise on moderate to high intensity the past year (p=0.022) compared to those with no-mild lung disease. There was no difference between the two subgroups when it comes to the mental component in SF-36 (p=0.2), however patients with moderate-endstage lung disease had lower scores on the subscales vitality ((p=0.003), social function (p=0.002) and emotional role function (p=0.005) as well as higher scores on the HADs depressive symptoms scale (p=0.024), than the patients with no-mild lung disease.Conclusion:Patients with SSc with moderate-endstage lung disease report more disability, lower physical capacity and activity, are more depressed and the physical aspects of quality of life is lower, as well as vitality, social function and emotional role function, compared to patients with no-mild lung disease. Studies evaluating whether increased physical activity and exercise may improve depressive symptoms and aspects of quality of life in patients with moderate-endstage lung disease are needed.References:[1]Liem SIE, Meessen JMTA, Wolterbeek R, Ajmone Marsan N, Ninaber MK, Vliet Vlieland TPM, de Vries-Bouwstra JK. Physical activity in patients with systemic sclerosis. Rheumatol Int. 2018;38:443-453[2]March C, Huscher D, Preis E, Makowka A, Hoeppner J, Buttgereit F, Riemekasten G, Norman K, Siegert E. Prevalence, Risk Factors and Assessment of Depressive Symptoms in Patients With Systemic Sclerosis. Arch Rheumatol. 2019;28;34:253-261Acknowledgments:Thanks to the patients involved in the study, patient research partner Monica Holmnér and the staff at the rheumatological clinic, Karolinska University HospitalDisclosure of Interests:None declared
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| 39. |
- Brolin, S, et al.
(författare)
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COMPARISON OF EDUCATIONAL NEEDS AMONG PATIENTS WITH ANCA ASSOCIATED VASCULITIS AND SYSTEMIC LUPUS ERYTHEMATOSUS - A PILOT STUDY USING THE EDUCATIONAL NEEDS ASSESSMENT TOOL.
- 2022
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Ingår i: ANNALS OF THE RHEUMATIC DISEASES. - : BMJ. - 0003-4967 .- 1468-2060. ; 81, s. 1106-1106
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Patients with chronic disease need to learn and adapt to symptoms, treatment, and the impact of disease. Knowledge about the specific disease is one way to empower the patients to cope. We previously reported that disease duration and sex, rather than disease characteristics associate with an increased need of educational support in ANCA associated vasculitis (AAV) (1). Data on how specific educational needs vary between different inflammatory rheumatic diseases are lacking.ObjectivesThe aim of the study was to compare educational needs among two chronic systemic inflammatory diseases, AAV and Systemic lupus erythematosus (SLE) using the Educational Needs Assessment Tool (ENAT).MethodsThis pilot study included cross-sectional data from two separate cohorts, AVV and SLE, from the Rheumatology clinic at Karolinska University Hospital in Sweden during 2009-2022. Inclusion criteria were minimum age of 18 years and literate in Swedish. Exclusion criterion was cognitive impairment interfering with literate capabilities.Educational needs were captured by patients’ answers to the questionnaire ENAT. The ENAT consists of 39 questions, presented as total ENAT and seven domains (managing pain, movement, feelings, disease process, treatment, self-management and, support systems) each containing 4-7 items (from ’not at all important’ = 0, to ‘extremely important’ = 3). The participants’ responses were presented as “mean % of the domain score”, from 0 interpreted as no educational need to 100 as highest educational need. Participants with AAV and SLE respectively were individually matched for disease duration, sex, and education. For comparisons paired samples t-test were used.ResultsTwenty-two matched pairs (86% female), mean (SD) disease duration 5.7 (8) years, were included. The mean age were 43 (14.0) years for AAV 61 and (14.7) years for SLE (p=0.001). Educational length was reported as mean 14 (3.6) years among SLE patients and 13 (2.9) years among AAV patients (p=0.111).In all patients, the mean total ENAT was 60.4% (range 23-100%) and did not differ between the two cohorts (p=0.2) (Table 1). In the pooled group the highest educational need was found in the domains ‘Disease process’ (mean 78.3%) and ‘Self-management’ (mean 75.9%). Lowest educational need was found in the domains ‘Movement’ (mean 46.7%) and ‘Managing pain’ (mean 51.6%).Table 1.Comparison of ENAT scores (mean % of max) (SD) between patient with SLE and AAVENAT domainAll n=44SLE n=22AAV n=22pManaging pain51.6 (29.8)50.8 (28.7)52.4 (32.2)0.867Movement46.7 (35.1)41.9 (34.2)49.2 (35.7)0.500Feelings63.1 (31.0)54.6 (30.6)70.4 (30.3)0.087Disease process78.3 (22.1)73.9 (23.0)83.4 (20.9)0.130Treatments60.7 (35.1)46.4 (36.0)74.2 (30.4)0.021Self-management75.9 (21.1)75.8 (18.8)76.9 (24.3)0.886Support systems54.0 (30.2)49.2 (31.4)58.7 (28.8)0.302Total ENAT60.4 (24.0)55.7 (22.8)65.0 (24.8)0.216Patients with AAV report a higher educational need in total ENAT as well as in all individual domains, compared to SLE (Table 1), but only significantly in the domain ‘Treatments’ where the educational need among AAV was mean 74.2% (30.4) and for SLE mean 46.4% (SD 36.0) (p = 0.02).ConclusionIn this pilot study with SLE and AAV, we found educational needs regarding ‘Treatments’ to be substantially increased among the participants with AAV, compared to SLE, despite that the participants were matched for disease duration and sex, two variables previously found to be indicators of increased educational needs. AAV patients with higher educational needs were older, this result needs to be further explored in a larger sample.References[1]Brolin S, Lövström B, et al. POS1476-HPR The need for information among patients with anca associated vasculitis differs between groups. Annals of the Rheumatic Diseases. 2021;80(Suppl 1):1023.AcknowledgementsWe are grateful to the participating patients, and colleagues assisting in the data collection.Disclosure of InterestsNone declared
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- Chen, C., et al.
(författare)
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Associations between general and specific mental health conditions in young adulthood and cardiometabolic complications in middle adulthood : A 40-year longitudinal familial coaggregation study of 672 823 Swedish individuals
- 2023
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Ingår i: European psychiatry. - : Cambridge University Press. - 0924-9338 .- 1778-3585. ; 66:Suppl. 1, s. S67-S68
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: Most mental disorders, when examined individually, are associated with an increased risk of cardiometabolic complications. However, these associations might be attributed to a general liability toward psychopathology or confounded by unmeasured familial factors.Objectives: To examine whether the associations between psychiatric diagnoses and increased risk of cardiometabolic complications are attributable to a general liability toward psychopathology, or confounded by unmeasured familial factors.Methods: We conducted a cohort study in Sweden and identified all individuals and their siblings born in Sweden 1955-1962 with follow-up through 2013. After excluding individuals who died or emigrated before 1987, the final sample consisted 672 823 individuals. We extracted ICD-coded diagnoses (recorded 1973-1987) for ten psychiatric conditions and criminal convictions when participants were aged 18-25 years, and ICD-coded diagnoses (recorded 1987-2013) for five cardiometabolic complications (obesity, hypertensive diseases, hyperlipidemia, type 2 diabetes mellitus, and cardiovascular diseases) when the participants were 51-58 years old. Logistic regression models were used to estimate the bivariate associations between psychiatric conditions or criminal convictions and cardiometabolic complications in individuals. A general factor model was used to identify general, internalizing, externalizing, and psychotic factors based on the psychiatric conditions and criminal convictions. We then regressed the cardiometabolic complications on the latent general factor and three uncorrelated specific factors within a structural equation modeling framework in individuals and across sibling pairs.Results: Each psychiatric conditions significantly increased the risk of cardiometabolic complications; however, most of these associations were attributable to the general factor of psychopathology, rather than to specific psychiatric conditions. There were no or only small associations between individuals’ general psychopathology and their siblings’ cardiometabolic complications, suggesting that the associations were not attributable to genetic or environmental confounding factors shared within families. The same pattern was evident for the specific internalizing and psychotic factors.Conclusions: Individuals with mental disorders in early life had an increased long term risk of cardiometabolic complications, which appeared attributable to a general liability toward psychopathology. Sibling analyses suggested that the elevated risk could not beattributed to confounds shared within families. This highlights the importance of transdiagnostic and lifestyle based interventions to reduce the risk of cardiometabolic complications, particularly in patients with several mental disorders.
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| 44. |
- Chen, C., et al.
(författare)
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Associations between psychiatric polygenic risk scores and general and specific psychopathology symptoms in childhood and adolescence between and within dizygotic twin pairs
- 2022
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Ingår i: Journal of Child Psychology and Psychiatry. - : Wiley. - 0021-9630 .- 1469-7610. ; 63:12, s. 1513-1522
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Tidskriftsartikel (refereegranskat)abstract
- Background Although polygenic risk scores (PRS) predict psychiatric problems, these associations might be attributable to indirect pathways including population stratification, assortative mating, or dynastic effects (mediation via parental environments). The goal of this study was to examine whether PRS-psychiatric symptom associations were attributable to indirect versus direct pathways. Methods The sample consisted of 3,907 dizygotic (DZ) twin pairs. In childhood, their parents rated them on 98 symptoms. In adolescence (n = 2,393 DZ pairs), both the parents and the twins rated themselves on 20 symptoms. We extracted one general and seven specific factors from the childhood data, and one general and three specific factors from the adolescent data. We then regressed each general factor model onto ten psychiatric PRS simultaneously. We first conducted the regressions between individuals (beta) and then within DZ twin pairs (beta(w)), which controls for indirect pathways. Results In childhood, the PRS for ADHD predicted general psychopathology (beta = 0.09, 95% CI: [0.06, 0.12]; beta(w) = 0.07 [0.01, 0.12]). Furthermore, the PRS for ADHD predicted specific inattention (beta = 0.04 [0.00, 0.08]; beta(w) = 0.09 [0.01, 0.17]) and specific hyperactivity (beta = 0.07 [0.04, 0.11]; beta(w) = 0.09 [0.01, 0.16]); the PRS for schizophrenia predicted specific learning (beta = 0.08 [0.03, 0.13]; beta(w) = 0.19 [0.08, 0.30]) and specific inattention problems (beta = 0.05 [0.01, 0.09]; beta(w) = 0.10 [0.02, 0.19]); and the PRS for neuroticism predicted specific anxiety (beta = 0.06 [0.02, 0.10]; beta(w) = 0.06 [0.00, 0.12]). Overall, the PRS-general factor associations were similar between individuals and within twin pairs, whereas the PRS-specific factors associations amplified by 84% within pairs. Conclusions This implies that PRS-psychiatric symptom associations did not appear attributable to indirect pathways such as population stratification, assortative mating, or mediation via parental environments. Rather, genetics appeared to directly influence symptomatology.
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| 45. |
- Chen, C., et al.
(författare)
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Chronic pain conditions and risk of suicidal behavior : a 10-year longitudinal co-twin control study
- 2023
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Ingår i: BMC Medicine. - : BioMed Central (BMC). - 1741-7015. ; 21:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Understanding the relationship between chronic pain conditions and suicidal behavior-suicide attempt, other intentional self-harm, and death by suicide-is imperative for suicide prevention efforts. Although chronic pain conditions are associated with suicidal behaviors, these associations might be attributed to unmeasured confounding or mediated via pain comorbidity.METHODS: We linked a population-based Swedish twin study (N=17,148 twins) with 10 years of longitudinal, nationwide records of suicidal behavior from health and mortality registers through 2016. To investigate whether pain comorbidity versus specific pain conditions were more important for later suicidal behavior, we modeled a general factor of pain and two independent specific pain factors (measuring pain-related somatic symptoms and neck-shoulder pain, respectively) based on 9 self-reported chronic pain conditions. To examine whether the pain-suicidal behavior associations were attributable to familial confounding, we applied a co-twin control model.RESULTS: Individuals scoring one standard deviation above the mean on the general pain factor had a 51% higher risk of experiencing suicidal behavior (odds ratio (OR), 1.51; 95% confidence interval (CI), 1.34-1.72). The specific factor of somatic pain was also associated with increased risk for suicidal behavior (OR, 1.80; 95% CI, 1.45-2.22]). However, after adjustment for familial confounding, the associations were greatly attenuated and not statistically significant within monozygotic twin pairs (general pain factor OR, 0.89; 95% CI, 0.59-1.33; somatic pain factor OR, 1.02; 95% CI, 0.49-2.11)CONCLUSION: Clinicians might benefit from measuring not only specific types of pain, but also pain comorbidity; however, treating pain might not necessarily reduce future suicidal behavior, as the associations appeared attributable to familial confounding.
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- Devarakonda, Sravani, et al.
(författare)
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Low-grade intestinal inflammation two decades after pelvic radiotherapy.
- 2023
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Ingår i: EBioMedicine. - 2352-3964. ; 94
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Tidskriftsartikel (refereegranskat)abstract
- Radiotherapy is effective in the treatment of cancer but also causes damage to non-cancerous tissue. Pelvic radiotherapy may produce chronic and debilitating bowel symptoms, yet the underlying pathophysiology is still undefined. Most notably, although pelvic radiotherapy causes an acute intestinal inflammation there is no consensus on whether the late-phase pathophysiology contains an inflammatory component or not. To address this knowledge gap, we examined the potential presence of a chronic inflammation in mucosal biopsies from irradiated pelvic cancer survivors.We biopsied 24 cancer survivors two to 20 years after pelvic radiotherapy, and four non-irradiated controls. Using tandem mass tag (TMT) mass spectrometry and mRNA sequencing (mRNA-seq), we charted proteomic and transcriptomic profiles of the mucosal tissue previously exposed to a high or a low/no dose of radiation. Changes in the immune cell populations were determined with flow cytometry. The integrity of the protective mucus layers were determined by permeability analysis and 16S rRNA bacterial detection.942 proteins were differentially expressed in mucosa previously exposed to a high radiation dose compared to a low radiation dose. The data suggested a chronic low-grade inflammation with neutrophil activity, which was confirmed by mRNA-seq and flow cytometry and further supported by findings of a weakened mucus barrier with bacterial infiltration.Our results challenge the idea that pelvic radiotherapy causes an acute intestinal inflammation that either heals or turns fibrotic without progression to chronic inflammation. This provides a rationale for exploring novel strategies to mitigate chronic bowel symptoms in pelvic cancer survivors.This study was supported by the King Gustav V Jubilee Clinic Cancer Foundation (CB), The Adlerbertska Research Foundation (CB), The Swedish Cancer Society (GS), The Swedish State under the ALF agreement (GS and CB), Mary von Sydow's foundation (MA and VP).
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