Wadt K.A.W.,Copenhagen University |
Aoude L.G.,QIMR Berghofer Medical Research Institute |
Krogh L.,University of Southern Denmark |
Sunde L.,University Hospital of Arhus |
And 16 more authors.
PLoS ONE | Year: 2015
Both environmental and host factors influence risk of cutaneousmelanoma (CM), and worldwide, the incidence varies depending on constitutional determinants of skin type and pigmentation, latitude, and patterns of sun exposure. We performed genetic analysis of CDKN2A , CDK4 , BAP1, MC1R, and MITFp.E318K in Danish high-risk melanoma cases and found CDKN2A germline mutations in 11.3% of CM families with three or more affected individuals, including four previously undescribed mutations. Rare mutations were also seen in CDK4 and BAP1, while MC1R variants were common, occurring at more than twice the frequency compared to Danish controls. The MITF p.E318K variant similarly occurred at an approximately three-fold higher frequency in melanoma cases than controls. To conclude, we propose that mutation screening of CDKN2A and CDK4 in Denmark should predominantly be performed in families with at least 3 cases of CM. In addition, we recommend that testing of BAP1 should not be conducted routinely in CM families but should be reserved for families with CM and uveal melanoma, or mesothelioma. © 2015 Wadt et al.
PubMed | QIMR Berghofer Medical Research Institute, Copenhagen University, University of Southern Denmark, Vejle hospital and 2 more.
Type: Journal Article | Journal: PloS one | Year: 2015
Both environmental and host factors influence risk of cutaneous melanoma (CM), and worldwide, the incidence varies depending on constitutional determinants of skin type and pigmentation, latitude, and patterns of sun exposure. We performed genetic analysis of CDKN2A, CDK4, BAP1, MC1R, and MITFp.E318K in Danish high-risk melanoma cases and found CDKN2A germline mutations in 11.3% of CM families with three or more affected individuals, including four previously undescribed mutations. Rare mutations were also seen in CDK4 and BAP1, while MC1R variants were common, occurring at more than twice the frequency compared to Danish controls. The MITF p.E318K variant similarly occurred at an approximately three-fold higher frequency in melanoma cases than controls. To conclude, we propose that mutation screening of CDKN2A and CDK4 in Denmark should predominantly be performed in families with at least 3 cases of CM. In addition, we recommend that testing of BAP1 should not be conducted routinely in CM families but should be reserved for families with CM and uveal melanoma, or mesothelioma.
Salvig J.D.,University Hospital of Arhus |
Lamont R.F.,Wayne State University |
Lamont R.F.,University of Southern Denmark
Acta Obstetricia et Gynecologica Scandinavica | Year: 2011
Background. Preterm delivery remains a substantial healthcare problem, complicating 5-10% of pregnancies, and is the major cause of perinatal morbidity and mortality in the developed world. Few effective methods to prevent preterm delivery have been identified to date. Objective. To review systematically the evidence from randomized controlled trials with respect to the hypothesis that increased consumption of marine n-3 fatty acids in pregnancy can prevent preterm birth. Setting. Electronic searches of the following databases were performed: PubMed (1995-2009), SCOPUS including EMBASE (1995-2009), and Cochrane Library. A combination of key words and text words related to fish oil, marine n-3 fatty acids, fish consumption, preterm birth, preterm delivery, prematurity, pregnancy duration, gestational age, parturition, delivery and pregnancy were used. Methods. A systematic review of randomized controlled trials of relevance was conducted. Three trials were included, comprising 921 women for whom data on gestational age and 1 187 women for whom data on birthweight were available. Results. Overall, 46 (8.9%) of 516 women who received n-3 fatty acids gave birth before 37 completed weeks of gestation, compared with 66 (16.3%) of 405 in the control group [relative risk 0.61; 95% confidence interval (CI) 0.40-0.93; p<0.05]. Data on delivery before 34 completed weeks showed the same trend (relative risk 0.32; 95% CI 0.09-0.95). Overall, the mean birthweight was 71g higher in women who received n-3 fatty acids during pregnancy (95% CI 4.73-138.12; p<0.05). The rate of low birthweight was not statistically significantly different between the intervention and the control groups. The mean gestational age at delivery was significantly higher by 4.5days in the intervention group supplemented with n-3 fatty acids compared with placebo (95% CI 2.3-6.8; p<0.05). Conclusions. Marine n-3 fatty acids administered in pregnancy reduce the rate of preterm birth and increase birthweight. © 2011 Nordic Federation of Societies of Obstetrics and Gynecology.
Olesen A.B.,Aarhus University Hospital |
Olesen A.B.,University Hospital of Arhus |
Svaerke C.,University Hospital of Arhus |
Farkas D.K.,University Hospital of Arhus |
Sorensen H.T.,University Hospital of Arhus
British Journal of Dermatology | Year: 2010
SummaryBackground Earlier studies reported an increased cancer risk among patients with systemic sclerosis. Study size limitations and paucity of population-based study designs may have resulted in imprecise risk estimates. Objectives To assess cancer risk among patients with systemic sclerosis in a nationwide follow-up study. Methods Patients with a first diagnosis of systemic sclerosis from 1977 to 2006 were identified from the nationwide Danish National Registry of Patients (DNRP), whose records encompass all hospitalizations and outpatient visits. Patients' DNRP records were linked to the Danish Cancer Registry. We compared their cancer incidence with that expected from cancer incidence in the general population, calculating standardized incidence ratios (SIRs) and 95% confidence intervals (CIs). Results Two thousand and forty patients with systemic sclerosis were identified and followed for 16 003 person-years, with a median follow-up time of 6·4 years (interquartile range 2·2-11·5). Among these patients, 222 cases of cancer were identified. The overall SIR for cancer was 1·5 (95% CI 1·3-1·7), with a gender-specific SIR of 2·2 (95% CI 1·7-2·8) for men and 1·3 (95% CI 1·1-1·6) for women. The most frequent cancers were smoking- and alcohol-related cancers including lung cancer (SIR = 1·6, 95% CI 1·2-2·0), haematological cancers (SIR = 2·5, 95% CI 1·5-4·0) and immune-related cancers (SIR = 1·4, 95% CI 1·0-1·9). Conclusions Systemic sclerosis is a risk factor for cancer, particularly smoking- and alcohol-related cancers. Men with systemic sclerosis generally are at higher cancer risk than women. Both primary and secondary cancer preventive measures are needed in the care of patients with systemic sclerosis. © 2010 British Association of Dermatologists.
PubMed | University Hospital of Arhus
Type: Journal Article | Journal: Journal of shoulder and elbow surgery | Year: 2012
Twenty-three consecutive patients with rheumatoid arthritis who had 26 Pritchord Mark II elbow prostheses were followed prospectively with a mean follow-up of 75 months (range 52 to 101 months). Two patients with three elbow prostheses have died, leaving 21 patients with 23 elbow prostheses for review. At the latest follow-up all the nonrevised elbows had achieved good or excellent results concerning pain relief and elbow motion. According to the data analyzed by a survivorship function-a Kaplan-Meier curve-the early results were promising with 92% of the prostheses surviving the first 5 years; however, only 43% of the prostheses have survived 8 years. Seven prostheses have been revised; the reasons for revision include one infection, one humeral fracture, one loosening of the humeral component, and four disconnections of the hinge. The number with disconnection of the hinge is increasing. Of 16 prostheses still not revised, the x-ray film reveals migration of the pin axle in six. Radiographic signs of component loosening or migration of the axle are not reflected in pain, function, or total score of the elbow.
PubMed | University Hospital of Arhus and Copenhagen University
Type: Journal Article | Journal: Scandinavian journal of medicine & science in sports | Year: 2015
The VISA-A questionnaire has proven to be a valid and reliable tool for assessing severity of Achilles tendinopathy (AT). The aim was to translate and cross-culturally adapt the VISA-A questionnaire for a Danish-speaking AT population, and subsequently perform validity and reliability tests. Translation and following cross-cultural adaptation was performed as translation, synthesis, reverse translation, expert review, and pretesting. The final Danish version (VISA-A-DK) was tested for reliability on healthy controls (n=75) and patients (n=36). Tests for internal consistency, validity, and structure were performed on 71 patients. VISA-A-DK showed good reliability for patients (r=0.80 ICC=0.79) and healthy individuals (r=0.98 ICC=0.97). Internal consistency was 0.73 (Cronbachs alpha). The mean VISA-A-DK score in AT patients was 51 [47-55]. This was significantly lower than healthy controls with a score of 93 (90-95). Criterion validity was considered good when comparing the scores of the Danish version with the original version in both healthy individuals and patients. VISA-A-DK is a valid and reliable instrument and has shown compatible to the original version in assessment of AT patients. VISA-A-DK is a useful tool in the assessment of AT, both in research and in a clinical setting.