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- Chong, S S, et al.
(författare)
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Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease : evidence from single sperm analyses.
- 1997
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 6:2, s. 301-9
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Tidskriftsartikel (refereegranskat)abstract
- New mutations for Huntington disease (HD) arise from intermediate alleles (IAs) with between 29 and 35 CAG repeats that expand on transmission through the paternal germline to 36 CAGs or greater. Using single sperm analysis, we have assessed CAG mutation frequencies for four IAs in families with sporadic HD (IANM) and IAs ascertained from the general population (IAGP) by analyzing 1161 single sperm from three persons. We show that IANM are more unstable than IAGP with identical size and sequence. Furthermore, comparison of different sized IAs and IAs with different sequences between the CAG and the adjacent CCG tracts indicates that DNA sequence is a major influence on CAG stability. These studies provide estimates of the likelihood of expansion of IANM and IAGP to > or = 36 CAG repeats for these individuals. For an IA with a CAG of 35 in this family with sporadic HD, the likelihood for siblings to inherit a recurrent mutation > or = 36 CAG is approximately 10%. For IAGP of a similar size, the risk of inheriting an expanded allele of > or = 36 CAG through the paternal germline is approximately 6%. These risk estimates are higher than previously reported and provide additional information for counselling in these families. Further studies on persons with IAs will be needed to determine whether these results can be generalized to other families.
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| 2. |
- Njolstad, T. S., et al.
(författare)
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Late-week surgical treatment of endometrial cancer is associated with worse long-term outcome: Results from a prospective, multicenter study
- 2017
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Ingår i: Plos One. - : Public Library of Science (PLoS). - 1932-6203. ; 12:8
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Tidskriftsartikel (refereegranskat)abstract
- Surgery is the cornerstone in primary endometrial cancer treatment, and with curative intent it constitutes total hysterectomy and bilateral salpingo-oopherectomy. In addition, lympha-denectomy is performed in selected patients dependent on a preoperative risk assessment. Recent reports from the surgical approach to esophageal cancer reveal worse outcome when esophagectomy is performed later in the week. On this basis, we set out to explore weekday of surgery in relation to long-term outcome in 1302 endometrial cancer patients prospectively included in the MoMaTEC multicenter study. Day of surgery was dichotomized as early-week (Monday-Tuesday) or late-week (Wednesday-Friday), and evaluated as a discrete variable. Adjusted for patient age, Body Mass Index (BMI), FIGO stage, and histology, surgery performed later in the week was associated with 50.9% increased risk of all-cause death (p = 0.029). Among high-stage patients (FIGO stage III and IV), 5-year disease-specific survival proportions were 53.0% for early-week operated vs. 40.2% for lateweek operated (p = 0.005 for difference). In multivariate survival analysis of high-stage patients, late-week surgery correlated with an increased risk of disease-specific death by 88.7% and all-cause death by 76.4% (p<0.017). Evaluating only patients who underwent lymphadenectomy, the adverse prognostic effect of being operated late-week remained for both disease-specific and all-cause death (HR 2.151 and HR 1.912, p = 0.004). Whether surgery was performed early- or late-week was not influenced by patient age, BMI, preoperative histology risk classification, FIGO stage or postoperative histology (all p>0.05). In conclusion, endometrial cancer surgery conducted late-week is associated with worse long-term outcome. Our findings are most evident among patients with higher FIGO stages, and patients who underwent more extensive surgical procedure (lymphadenectomy). With support from other studies, our results suggest that high-risk patients may benefit from surgery earlier in the week.
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| 3. |
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| 4. |
- Gyhagen, Maria, et al.
(författare)
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Temporal trends in obstetric anal sphincter injury from the first vaginal delivery in Austria, Canada, Norway, and Sweden
- 2021
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Ingår i: Acta Obstetricia Et Gynecologica Scandinavica. - : Wiley. - 0001-6349 .- 1600-0412. ; 100:11, s. 1969-1976
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Tidskriftsartikel (refereegranskat)abstract
- Introduction Obstetric anal sphincter injuries (OASI) are severe complications that can cause considerable short- and long-term morbidity. Austria, Canada, Norway, and Sweden have similar socio-economic characteristics, and all four countries have access to national birth registers. In this study, we hypothesized that the incidence of OASI should be very similar for different obstetric scenarios in these four countries. Therefore, the aim was to compare the incidence of OASI in these four countries in primiparous women, with spontaneous or instrumental delivery (vacuum or forceps), and in women with a first vaginal birth after cesarean section (VBAC). Material and methods Aggregated data on 1 933 930 vaginally delivered primiparous women and women with VBAC were retrieved from the birth registers gathered in Austria, Canada, Norway, and Sweden. The annual rate of OASI (ICD-10 codes O70.2-O70.3) was presented as the percentage of women with a spontaneous delivery, vacuum or forceps delivery, and a VBAC during the period 2004-2016. Results The incidence of OASI varied considerably between countries and over time. Canada and Sweden had the highest rates, and Austria and Norway the lowest. In Norway, the rate of OASI decreased consistently for all types of deliveries after introducing a perineal protection program in 2004 (p < 0.001). During vacuum delivery, the incidence of OASI varied between countries from 4.1% to 15.5% across the study period. In Canada and Norway, the rate of OASI after a forceps delivery was similar in 2004 at similar to 20% and with differing trajectories to 24.3% (beta 0.49) and 6.2% (beta -1.15) (trend, all p < 0.001) in 2016. Conclusions This comparative register study suggests that there may be considerable potential for lowering the incidence of OASI. The perineal protection program implemented by Norway has been successful. Each country should critically, without prejudice, analyze their current clinical practices and rate of OASI and consider the best preventive strategy.
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| 5. |
- Mellstr?m, E., et al.
(författare)
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Methylphenidate and Reduced Overweight in Children With ADHD
- 2020
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Ingår i: Journal of Attention Disorders. - : SAGE Publications. - 1087-0547 .- 1557-1246. ; 24:2, s. 246-254
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The objective of this study was to investigate odds ratios of overweight/obesity in children with ADHD and to compare the change in body mass index (BMI) after initiation of methylphenidate treatment in normal versus overweight/obese children. Method: This population-based study included 724 children (<18 years), of whom 197 were girls. Odds ratios for overweight and obesity were calculated, comparing the study group with a reference group from the same area. After initiation of methylphenidate treatment, changes in BMI were assessed for up to 3 years. Results: Children with ADHD had an odds ratio of 1.87 (95% confidence interval [CI]: [1.60, 2.19]) for overweight/obesity. A decrease in BMI standard deviation score was identified 1 to 3 years into treatment. The decrease was beneficially greater in overweight/obese as compared with normal weight children-mean (SD) -0.64 (0.80) versus -0.39 (0.68); p = .001-and greater in girls. Conclusion: Medication with methylphenidate may facilitate favorable weight development in children with ADHD and overweight/obesity.
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