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- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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| 5. |
- Lehtonen, T, et al.
(författare)
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SLEEP PROBLEMS IN EARLY RHEUMATOID ARTHRITIS
- 2020
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Ingår i: ANNALS OF THE RHEUMATIC DISEASES. - : BMJ. - 0003-4967 .- 1468-2060. ; 79, s. 614-614
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- It is well known that patients with established RA suffer from problems with sleep quality[1]. There are however few, if any, studies on sleep quality among newly diagnosed patients.Objectives:To investigate the sleep quality among patients newly diagnosed with RA.Methods:We used the Swedish study Epidemiological Investigation of RA (EIRA) including patients at the time of diagnosis, based on the 1987 ACR criteria during 2008-2016. At 1 and 3 years after diagnosis, the patients were sent a questionnaire in which they were asked to rate their sleep quality on 10 different questions. We then calculated 6 different sleep components consisting of insomnia, non-restorative sleep, sleep problems, general quality of sleep, if poor sleep affected the health and if they were getting enough sleep[2].Sleep problems were defined as mostly or always having problems with either of the following: falling asleep, many awakenings with difficulties to go back to sleep, waking up early or having disturbed/restless sleep. Insomnia was defined as answering mostly or always on either problem with falling asleep, many awakenings with difficulties to go back to sleep or waking up early, in combination with mostly or always being tired during the day.Having problems with non-restorative sleep was defined as mostly or always having trouble waking up or not feeling well rested when waking up. We defined having problem with not getting enough sleep, sleep quality affecting the health and poor sleep quality as reporting any of the two highest scores on the corresponding questions.We then calculated the proportion of people experiencing no problems at 1 or 3 years after RA diagnosis, developing problems, improving or always having problems with their sleep.Results:We identified 1483 patients with data at either one or both time points. The mean age was 59 years (IQR 19), and 1063 (72%) were women. At 1 year, 36% of the patients reported having at least one type of sleep problem, after 3 years, this figure was 29%. Over 20% of the patients reported having “Rather big” or “Very big” problems with sleep after one year (Table 1) and 31% had problems at one or both time points (Table 2). Disturbed sleep was a problem for their health in 20% of the patients and 11% reported having “poor” or “very poor” sleep quality at both times. Insomnia was experienced by 118 (10%) patients at 1 year and 112 (11%) at 3 years.Table 1.Sleep problems at 1 and 3 years after diagnosis of RA.1 year3 yearsInsomnia118 (9%)112 (11%)Not getting enough sleep102 (8%)113 (11%)Problems with sleep in general270 (22%)231 (22%)Sleep quality affecting health238 (19%)197 (19%)Poor sleep quality218 (17%)209 (20%)Problem with non-restorative sleep218 (17%)154 (14%)Table 2.Individuals experiencing no problems, developing problems, improving or always having problems with their sleep at 1 and 3 years after diagnosis of RA.No problems at any time pointImprovedDeveloped problemsProblems at both 1 and 3 yearsInsomnia702 (85%)43 (5%)46 (6%)39 (5%)Not getting enough sleep719 (86%)36 (4%)47 (6%)34 (4%)Problems with sleep in general576 (69%)81 (10%)78 (9%)103 (12%)Sleep quality affecting health616 (74%)65 (8%)70 (8%)85 (10%)Poor sleep quality623 (74%)57 (7%)66 (8%)91 (11%)Problem with non-restorative sleep654 (78%)71 (8%)46 (5%)67 (8%)Conclusion:In a population-based early RA cohort receiving today’s standard care, 30% of the patients reported some type of sleep problem during the first 3 years. Although this is a lower rate than has been reported in established RA, this is a significant proportion of RA patients, and these findings warrant further studies to closer identify the course of sleep problems and the factors influencing it such as pain.References:[1]Bourguignon C et al PMID 14596374[2]Akerstedt T et al PMID 18484368Acknowledgments:The authors wish to acknowledge the EIRA study group and the EIRA data collectors.Disclosure of Interests:Tiina Lehtonen: None declared, Torbjörn Åkerstedr: None declared, Lauren Lyne: None declared, Lars Klareskog: None declared, Saedis Saevarsdottir Employee of: Part-time at deCODE Genetics/Amgen Inc, working on genetic research unrelated to this project, Lars Alfredsson: None declared, Helga Westerlind: None declared
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| 6. |
- Lyne, L, et al.
(författare)
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Sleep problems in rheumatoid arthritis over 12 years from diagnosis: results from the Swedish EIRA study
- 2022
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Ingår i: RMD open. - : BMJ. - 2056-5933. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Most studies of rheumatoid arthritis (RA) and sleep have focused on established RA. We here investigate sleep quality and sleep duration in patients with newly diagnosed RA and during 1–12 years after diagnosis.MethodsData were collected on sleep 1–12 years after diagnosis from patients diagnosed 1998–2018 in the Swedish study Epidemiological Investigation of RA. Six sleep domains (sleep problems, non-restorative sleep, insomnia, insufficient sleep, sleep quality perceived as poor and sleep considered a health problem); a global sleep score and time spent in bed were estimated. Using logistic regression, ORs were calculated for each sleep outcome by disease duration. We explored whether pain (low (Visual Analogue Scale=0–20 mm, reference), intermediate=21–70, high=71–100) or functional impairment (Health Assessment Questionnaire>1.0) was associated with problems.ResultsWe had sleep data on 4131 observations (n=3265 individuals). Problems with ≥1 sleep domain (global sleep score) was reported in 1578 observations (38%) and increased with disease duration (OR 1.04, 95% CI 1.02 to 1.07). Median time in bed was 8 hours (Q1-Q3: 7.5–9.0). High-grade pain increased the likelihood of sleep problems ~3–9 fold, and increased functional impairment ~4–8 fold.ConclusionIn this cohort of newly diagnosed patients with RA with access to the current treatment from diagnosis, we did not find any major problems with sleep, and existing sleep problems related mainly to pain and reduced function. Treatment of sleep problems in RA should be guided towards treating the underlying problem causing the sleep disturbance.
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| 7. |
- Nieminen, T, et al.
(författare)
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Risk factors for evaluating early mortality after microvascular reconstruction of head and neck cancers
- 2022
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Ingår i: Scandinavian journal of surgery : SJS : official organ for the Finnish Surgical Society and the Scandinavian Surgical Society. - : SAGE Publications. - 1799-7267. ; 111:4, s. 83-91
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Tidskriftsartikel (refereegranskat)abstract
- Free tissue transfer reconstruction carries significant complication rates in surgical head and neck oncology. A registry-based approach offers a possibility to investigate the factors affecting increased morbidity and early mortality, that is, death within 6 months of treatment. Methods: A retrospective registry review was conducted on a series of 317 consecutive microvascular free tissue transfers in head and neck cancer patients performed during 2013–2017 at the Helsinki University Hospital (Helsinki, Finland). All surviving patients had a minimum follow-up of 2 years (range 24–84 months). Results: Overall, 36 (11.4%) early deaths occurred in this series. In multivariable logistic regression analysis, patients aged 75 years and older ( p = 0.019), Adult Comorbidity Evaluation-27 (ACE-27) score of 3 ( p = 0.048), tumor class T3 ( p = 0.005), lymph node class N2 ( p = 0.014), or thrombocyte count of 360 (× 109 L) or more ( p = 0.001) were more likely to die within 6 months of surgery. Of these 36 patients, 27 (75%) had a complication warranting hospital care and most ( n = 22, 61%) had several complications. Conclusions: Early postoperative mortality most frequently affects patients aged 75 years and above, with a high ACE-27 score, advanced tumor stage, or high thrombocyte count. Therefore, preoperative assessment and patient selection should have a crucial role in this patient population.
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| 9. |
- Beal, Jacob, et al.
(författare)
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Robust estimation of bacterial cell count from optical density
- 2020
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Ingår i: Communications Biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 3:1
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Tidskriftsartikel (refereegranskat)abstract
- Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data.
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