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- Bergman, Annika, et al.
(författare)
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A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques
- 2005
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Ingår i: Familial Cancer. - : Springer. - 1389-9600 .- 1573-7292. ; 4:2, s. 89-96
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Tidskriftsartikel (refereegranskat)abstract
- Dominant inheritance is presumed in 6-10% of breast and ovarian cancers. Mutations in BRCA1 and BRCA2 genes are the most commonly identified causative genes in such families. The frequency of mutation carriers with breast/ovarian cancer depends on the population studied, and display considerable variation that coincides with ethnic and geographical diversity. Mutation analyses were performed in 143 families registered at the Cancer Genetic Counseling Clinic of western Sweden. In a thorough mutation screening procedure, the entire BRCA1 and BRCA2 genes were analyzed using a combination of complementary mutation detection techniques. Mutations in either BRCA1 or BRCA2 were detected in 36% (52 out of 143) of all screened families. All families were clinically evaluated regarding age at diagnosis, type of cancer and number of cancer cases in the family. Among high-risk families, the mutation detection rate was 39% (46 out of 117). The detection rate observed among families with cases of ovarian cancer (42 out of 62, 68%), was substantially higher than in families with only breast cancer (10 out of 81, 12%). Age at ovarian cancer did not seem to have an effect on the detection rate. The analyses revealed 11 frameshift mutations, 4 nonsense mutations and 2 large deletions. Notably, the BRCA1 c.3171ins5 mutation accounted for 34 of 52 (65%) identified mutations. Seven mutations are novel: BRCA1c.409_410del; c.1912T>G; c.2228_2229del; c.3029delA; c.3433delA, a large deletion covering exons 1-3 of BRCA1and one BRCA2 mutation; BRCA2c.6287_6290del. We have shown that the founder mutation BRCA1 c.3171ins5 has a great influence on western Swedish breast/ovarian cancer families along with a high number of mutations unique for the region. In order to achieve a high mutation detection rate we suggest a combination of several detection techniques.
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- Kjaerandsen, Jostein, et al.
(författare)
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On the genus Urytalpa Edwards (Diptera: Keroplatidae) in the Nordic and Nearctic regions, with fixation of a new type species and a key to world males.
- 2009
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Ingår i: Zootaxa. - 1175-5334. ; 2160, s. 29-50
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Tidskriftsartikel (refereegranskat)abstract
- The five Nordic species of the genus Urytalpa Edwards (Diptera: Keroplatidae) are revised, of which one species, Urytalpa galdes Hedmark & Kjaerandsen, sp. n., is described as new to science based on males collected in northern Sweden. We find that the original type species assignment for Urytalpa (Platyura ochracea Meigen, 1818) is based on a misidentification, and in order to stabilize the nomenclature we therefore select a new type species, Urytalpa dorsalis (Staeger, 1840), sp. restit. A lectotype is designated for Orfelia ochracea (Meigen, 1818), comb. n. = Orfelia unicolor (Staeger, 1840), syn. n. The males of U. atriceps (Edwards, 1913), U. dorsalis, U. macrocera (Edwards, 1913) and U. trivittata (Lundström, 1914), and the females of U. dorsalis, U. macrocera and U. trivittata are described and illustrated based on Nordic material. As the first known Nearctic representative of Urytalpa, U. nigrita (Johannsen, 1910), comb. n., known from western USA (Washington) and Canada, is transferred from Pyrtaula to Urytalpa, illustrated and compared with the closely related U. rhapsodica Chandler, 1995 from central Europe. A key to all known males is provided. The generic limits of Urytalpa as presently understood are vague in relation to related genera and the genus is in need of a revision.
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- Martinsson, L, et al.
(författare)
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Activity Index - a complementary ADL scale to the Barthel Index in the acute stage in patients with severe stroke
- 2006
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Ingår i: Cerebrovascular diseases (Basel, Switzerland). - : S. Karger AG. - 1015-9770 .- 1421-9786. ; 22:4, s. 231-239
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Tidskriftsartikel (refereegranskat)abstract
- <i>Objective:</i> It was the aim of this study to compare the Barthel Index (BI) and the activities of daily living (ADL) component of the Activity Index [AI(ADL)] regarding floor and ceiling effects, responsiveness and the predictive value for survival during the first week until 3 months after stroke onset. <i>Patients and Methods:</i> Basic ADL were assessed in 75 patients with ischaemic stroke. <i>Results:</i> There was a strong concordance between BI and AI(ADL) scores at all time points (Kendall’s τ<sub>b</sub> = 0.7878, p < 0.0001 at baseline; Kendall’s τ<sub>b</sub> = 0.8901, p < 0.0001 at 1 week; Kendall’s τ<sub>b</sub> = 0.9027, p < 0.0001 at 3 months). BI had a significantly more pronounced floor effect at baseline and at 1 week compared with AI(ADL) in patients with severe stroke. Both scales had a substantial ceiling effect at 3 months. At 1 week, the baseline BI score was significantly higher in patients being alive as compared with those who had died, while their AI(ADL) score did not differ significantly. At 3 months, baseline BI and AI(ADL) scores were significantly higher in patients being alive as compared with those who had died. The predictive value of being alive at 1 week and 3 months did not differ between BI and AI(ADL). <i>Conclusion:</i> AI(ADL) is recommended to be used in addition as a complement to BI in patients with severe stroke since the floor effect with BI in the acute stage is significantly more pronounced than with AI(ADL), thus hampering the responsiveness.
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