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- Dumanski, Jan P., et al.
(författare)
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A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors
- 2017
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Ingår i: Endocrine-Related Cancer. - 1351-0088 .- 1479-6821. ; 24:8, s. 427-443
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Tidskriftsartikel (refereegranskat)abstract
- The genetics behind predisposition to small intestinal neuroendocrine tumors (SI-NETs) is largely unknown, but there is growing awareness of a familial form of the disease. We aimed to identify germline mutations involved in the carcinogenesis of SI-NETs. The strategy included next-generation sequencing of exome- and/or whole-genome of blood DNA, and in selected cases, tumor DNA, from 24 patients from 15 families with the history of SI-NETs. We identified seven candidate mutations in six genes that were further studied using 215 sporadic SI-NET patients. The result was compared with the frequency of the candidate mutations in three control cohorts with a total of 35,688 subjects. A heterozygous variant causing an amino acid substitution p.(Gly396Asp) in the MutY DNA glycosylase gene (MUTYH) was significantly enriched in SI-NET patients (minor allele frequencies 0.013 and 0.003 for patients and controls respectively) and resulted in odds ratio of 5.09 (95% confidence interval 1.56-14.74; P value = 0.0038). We also found a statistically significant difference in age at diagnosis between familial and sporadic SI-NETs. MUTYH is involved in the protection of DNA from mutations caused by oxidative stress. The inactivation of this gene leads to specific increase of G:C- > T:A transversions in DNA sequence and has been shown to cause various cancers in humans and experimental animals. Our results suggest that p.(Gly396Asp) in MUTYH, and potentially other mutations in additional members of the same DNA excision-repair pathway (such as the OGG1 gene) might be involved in driving the tumorigenesis leading to familial and sporadic SI-NETs.
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- Olsson, Petter, et al.
(författare)
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HealthSWEDE : costs with sublingual immunotherapy - a Swedish questionnaire study
- 2021
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Ingår i: Allergy, Asthma & Clinical Immunology. - : BMC. - 1710-1484 .- 1710-1492. ; 17:1
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Tidskriftsartikel (refereegranskat)abstract
- Background The aim of this cross-sectional survey was to compare the health-economic consequences for allergic rhinitis (AR) patients treated with sublingual Immunotherapy (SLIT) in terms of direct and indirect costs with a reference population of patients receiving standard of care pharmacological therapy. Methods Primary objective was to analyse the health-economic consequences of SLIT for grass pollen allergy in Sweden vs reference group waiting for subcutaneous immunotherapy (SCIT). A questionnaire was mailed to two groups of AR patients. Results The questionnaire was distributed to 548 patients, 307 with SLIT and 241 in reference group (waiting for SCIT). Response rate was 53.8%. Mean annual costs were higher for reference patients than SLIT group; euro 3907 (SD 4268) vs euro 2084 (SD 1623) p < 0.001. Mean annual direct cost was higher for SLIT-patients, euro 1191 (SD 465) than for reference, euro 751 (SD 589) p < 0.001. Mean annual indirect costs for combined absenteeism and presenteeism were lower for patients treated with SLIT, euro 912 (SD 1530), than for reference, euro 3346 (SD 4120) p < 0.001, with presenteeism as main driver. Conclusions SLIT seems to be a cost-beneficial way to treat seasonal AR. This information might be used to guide future recommendations.
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- Rosengren, Annika, 1951, et al.
(författare)
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Obesity and trends in cardiovascular risk factors over 40 years in Swedish men aged 50.
- 2009
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Ingår i: Journal of internal medicine. - : Wiley. - 1365-2796 .- 0954-6820. ; 266:3, s. 268-76
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To study trends over 40 years in cardiovascular risk factors in normal weight, overweight and obese men, all aged 50 when examined. Design. Cross-sectional studies of five successive cohorts of men aged 50. SETTING: City of Göteborg, Sweden. SUBJECTS: Random population samples of altogether 3251 urban Swedish men born in 1913, 1923, 1933, 1943 and 1953. MAIN OUTCOME MEASURES: Anthropometry, cardiovascular risk factors, rates of nonsmoking, normotension and serum cholesterol <5 mmol L(-1) over four decades. RESULTS: Over 40 years, there was a net increase in body mass index (BMI) from 24.8 (SD = 3.2) to 26.4 (3.7) kg m(-2) (P < 0.0001), with an increase in the prevalence of obesity (BMI >or= 30 kg m(-2)) from 6.0% in 1963 to 13.8% in 2003. Favourable trends with respect to smoking, blood pressure and serum cholesterol were observed similarly amongst normal weight, overweight and obese men. In 1963, 24% of obese men were normotensive compared to 45% in 2003, and 6% had serum cholesterol <5 mmol L(-1) compared to 34% in 2003. Compared with obese men in 1963, men who were obese in 2003 had an odds ratio (OR) of 3.39 being a nonsmoker [95% confidence interval (CI): 1.56 to 7.36], 2.67 of being normotensive (1.23 to 5.83) and having serum cholesterol <5 mmol L(-1) of 8.30 (2.37 to 29.0). However, optimal risk factor status - no smoking, normotension and total serum cholesterol <5 mmol L(-1)- was still present in less than one in six men in 2003, similar across BMI categories. CONCLUSIONS: Obese Swedish men who are now in their fifties have much lower levels of other risk factors compared with obese men 40 years ago. This could contribute to explain why coronary heart disease death rates still are falling despite increasing rates of obesity.
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- Welin, Lennart, et al.
(författare)
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Därför vill 1943 års män arbeta vidare efter 65 års ålder
- 2013
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Ingår i: Läkartidningen. - : Sveriges läkarförbund. - 0023-7205 .- 1652-7518. ; 110:38
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- A random sample of men born in 1943 were asked about their views just before their 65th birthday (the common age of retirement in Sweden). 786 (64%) responded. They were divided into 4 groups: Group 1 (11%) retired before the age of 60, group 2 (25%) retired between the ages of 60 and 64, group 3 (22%) planned to retire around the age of 65, and group 4 (42%) planned to continue working after the age of 65. Men in group 1 reported more diseases and lower education than men in the other groups. Men in group 4 had higher education, more often office work, a partner who was still working and felt healthier than the other men. The men in group 4 were also happier with their work and had more influence on their working conditions than the other men, but they were worried about retiring too early.
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- Welin, Lennart, 1941, et al.
(författare)
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Insulin resistance, glucose intolerance, physical activity and other risk factors for coronary heart disease in elderly men. The study of men born in 1913 and 1923.
- 2003
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Ingår i: European Journal of Cardiovascular Prevention and Rehabilitation. - 1741-8267. ; :10, s. 283-288
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: We have previously shown that insulin is not a major risk factor for CHD. Our data have been re-analysed with longer follow-up and the homeostasis model assessment (HOMA) method. DESIGN: Prospective cohort study of 57- and 67-year-old men. METHODS: Insulin resistance was estimated with the HOMA equation. Standard methods were used to measure risk factors. The endpoint (CHD) was the combination of non-fatal myocardial infarction and fatal CHD during 13 years of follow-up. RESULTS: The risk of CHD increased 2.5-fold in known diabetics compared with those with normal glucose tolerance, 2.2-fold among those in the highest compared with the lowest quintile of insulin resistance, and 2.4-fold among those in the highest compared with the lowest quintile of fasting insulin. Increased physical activity decreased the risk of CHD by 65%. Cholesterol was also a significant risk factor for CHD but blood pressure, obesity and smoking were not related to the incidence of CHD. CONCLUSION: Insulin resistance is a significant risk factor for CHD. Whether it is a causal risk factor remains to be proven. Regular physical activity protects against CHD. PMID: 14555884 [PubMed - indexed for MEDLINE]
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- Welin, Lennart, et al.
(författare)
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Prevalence of cardiovascular risk factors and the metabolic syndrome in middle-aged men and women in Gothenburg, Sweden
- 2008
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Ingår i: BMC Public Health. - : Springer Science and Business Media LLC. - 1471-2458. ; 8, s. 403-
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND Random samples of 50-year-old men living in Gothenburg have been examined every 10th year since 1963 with a focus on cardiovascular risk factors. The aims of the study were to acquire up-to-date information about risk factors in the fifth cohort of 50-year-old men and women, to re-examine those who were 50 years of age in 1993, and to analyse the prevalence of the metabolic syndrome (MetSyn) using different definitions. METHODS A random sample of men and women born in 1953 were examined in 2003-2004 for cardiovascular risk factors. Men born in 1943 and that participated in the examination in 1993 were also invited. Descriptive statistics were calculated. RESULTS The participation rate among men and women born in 1953 was 60 and 67% respectively. Among men born in 1943, the participation rate was 87%. The prevalence of obesity was from 15 to 17% (body mass index, BMI >or= 30) in the three samples. The prevalence of known diabetes was 4% among the 50-year-old men and 6% among the 60-year-old men, and 2% among the women. Increased fasting plasma glucose varied substantially from 4 to 33% depending on cut-off level and gender. Mean cholesterol was 5.4 to 5.5 mmol/l. Smoking was more common among women aged 50 (26%) than among men aged 50 (22%) and 60 years (15%). The prevalence of the MetSyn varied with the definition used: from 10 to 15.8% among the women, from 16.1 to 26% among 50-year-old men, and from 19.9 to 35% among the 60-year-old men. Only 5% of the men and women had no risk factors. CONCLUSION This study provides up-to-date information about the prevalence of cardiovascular risk factors and the MetSyn in middle-aged Swedish men and women. Different definitions of the MetSyn create confusion regarding which definition to use.
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- Wilhelmsen, Lars, 1932, et al.
(författare)
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Factors associated with reaching 90 years of age : a study of men born in 1913 in Gothenburg, Sweden
- 2011
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 269:4, s. 441-451
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Tidskriftsartikel (refereegranskat)abstract
- Objectives. Increasing numbers of people reach old age. We wanted to identify variables of importance for reaching 90 years old and determine how the predictive ability of these variables might change over time. Setting and subjects. All men in the city of Gothenburg born in 1913 on dates divisible by 3, which is on the 3rd, 6th, 9th etc., were included in the study. Thus, 973 men were invited, and 855 were examined in 1963 at age 50. Further examinations were made at age 54, 60 and 67. Anthropometric data, lifestyle and parental factors, blood pressure, lung function, X-ray of heart and lungs and maximum work performance were recorded. The area under the receiver operating characteristic curve was used to analyse the predictive capacity of a variable. Results. A total of 111 men (13%) reached 90 years of age, men who reached 90 years were more likely at age 50 to be nonsmokers, consume less coffee, have higher socio-economic status and have low serum cholesterol levels than those who did not reach this age; however, at age 50 or 62, parents' survival was of no prognostic importance. Variables of greatest importance at higher ages were low blood pressure and measures related to good cardiorespiratory function. In multivariable analysis, including all examinations, being a nonsmoker, consuming small amounts of coffee, having high housing costs at age 50, good maximum working capacity and low serum cholesterol were related to a better chance of survival to age 90. Conclusions. Low levels of cardiovascular risk factors, high socio-economic status and good functional capacity, irrespective of parents' survival, characterize men destined to reach the age of 90.
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