| 1. |
- Christesen, Henrik Thybo, et al.
(författare)
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Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
- 2020
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Ingår i: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212 .- 1878-0849. ; 63:1
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Tidskriftsartikel (refereegranskat)abstract
- Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain unclear. We report of an apparently non-syndromic infant with severe congenital hyperinsulinism (CHI) and diffuse pancreatic labelling by 18F*-DOPA-PET/CT leading to near-total pancreatectomy. The histology was atypical with pronounced proliferation of endocrine cells comprising >70% of the pancreatic tissue and a small pancreatoblastoma. Routine genetic analysis for CHI was normal in the blood and resected pancreatic tissue. At two years’ age, Beckwith-Wiedemann Syndrome (BWS) stigmata emerged, and at five years a liver tumour with focal nodular hyperplasia and an adrenal tumour were resected. pUPD was detected in 11p15 and next in the entire chromosome 11 with microsatellite markers. Quantitative fluorescent PCR with amplification of chromosome-specific DNA sequences for chromosomes 13, 18, 21 and X indicated GW-pUPD. A next generation sequencing panel with 303 SNPs on 21 chromosomes showed pUPD in both blood and pancreatic tissue. The mosaic distribution of GW-pUPD ranged from 31 to 35% in blood and buccal swap to 74% in the resected pancreas, 80% in a non-tumour liver biopsy, and 100% in the liver focal nodular hyperplasia and adrenal tumour. MLID features included transient conjugated hyperbilirubinaemia and lack of macrosomia from BWS (pUPD6); and behavioural and psychomotor manifestations of Angelman Syndrome (pUPD15) on follow-up. In conclusion, atypical pancreatic histology in apparently non-syndromic severe CHI patients may be the first clue to BWS and multi-syndromal CHI from GW-pUPD. Variations in the degree of mosaicism between tissues explained the phenotype.
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| 2. |
- Olivecrona, Henrik, et al.
(författare)
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A new CT method for measuring cup orientation after total hip arthroplasty : A study of 10 patients
- 2004
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Ingår i: Acta Orthopaedica Scandinavica. - : Medical Journals Sweden AB. - 0001-6470. ; 75:3, s. 252-260
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Tidskriftsartikel (refereegranskat)abstract
- Background It is difficult to assess the orientation of the acetabular component on routine radiographs. We present a method for determining the spatial orientation of the acetabular component after total hip arthroplasty (THA) using computed tomography. Patients and methods Two CT-scans, 10 min apart, were obtained from each of 10 patients after THA. Using locally developed software, two independent examiners measured the orientation of the acetabular component in relation to the pelvis. The measurements were repeated after one week. To be independent of the patient position during scanning, the method involved two steps. Firstly, a 3D volumetric image of the pelvis was brought into a standard pelvic orientation, then the orientation of the acetabular component was measured. The orientation of the acetabular component was expressed as operative anteversion and inclination relative to an internal pelvic reference coordinate system. To evaluate precision, we compared measurements across pairs of CT volumes between observers and trials. Results Mean absolute interobserver angle error was 2.3degrees for anteversion (range 0-6.6degrees), and 1.1degrees for inclination (range 0-4.6degrees). For interobserver measurements, the precision, defined as one standard deviation, was 2.9degrees for anteversion, and 1.5degrees for inclination. A Student's West showed that the overall differences between the examiners, trials, and cases were not significant. Data were normally distributed and were not dependent on examiner or trial. Interpretation We conclude that the implant angles of the acetabular component in relation to the pelvis could be detected repeatedly using CT, independently of patient positioning.
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| 3. |
- Olivecrona, Henrik, et al.
(författare)
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Spatial component position in total hip arthroplasty - Accuracy and repeatability with a new CT method
- 2003
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Ingår i: Acta Radiologica. - : SAGE Publications. - 0284-1851 .- 1600-0455. ; 44:1, s. 84-91
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: 3D detection of centerpoints of prosthetic cup and head after total hip arthroplasty (THA) using CT. Material and Methods: Two CT examinations, 10 min apart, were obtained from each of 10 patients after THA. Two independent examiners placed landmarks in images of the prosthetic cup and head. All landmarking was repeated after 1 week. Centerpoints were calculated and compared. Results: Within volumes, all measurements of centerpoints of cup and head fell, with a 95% confidence, within one CT-voxel of any other measurement of the same object. Across two volumes, the mean error of distance between center of cup and prosthetic head was 1.4 mm (SD 0.73). Intra- and interobserver 95% accuracy limit was below 2 mm within and below 3 mm across volumes. No difference between intra- and interobserver measurements occurred. A formula for converting finite sets of point landmarks in the radiolucent tread of the cup to a centerpoint was stable. The percent difference of the landmark distances from a calculated spherical surface was within one CT-voxel. This data was normally distributed and not dependent on observer or trial. Conclusion: The true 3D position of the centers of cup and prosthetic head can be detected using CT. Spatial relationship between the components can be analyzed visually and numerically.
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| 4. |
- Olivecrona, Henrik, et al.
(författare)
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Stability of acetabular axis after total hip arthroplasty, repeatability using CT and a semiautomated program for volume fusion
- 2003
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Ingår i: Acta Radiologica. - : SAGE Publications. - 0284-1851 .- 1600-0455. ; 44:6, s. 653-661
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To validate a CT method for detecting changes in acetabular cup orientation after THA. Material and Methods: 26 CT examinations were obtained from a pelvic model with an uncemented acetabular cup. The model position was altered between acquisitions, but the cup axis angle vis-a-vis the pelvis was maintained. Data sets were combined into 37 pairs, each containing a unique positioning error. The pelvi in different examinations were fused, creating transformed volumes. Landmarks corresponding to the cup before and after fusion were placed interactively by two independent examiners. The orientation of the acetabular axis was calculated for each volume and compared across volumes. Results: Before fusion the mean angle error between the acetabular axes was 4.17degrees (SD +/- 1.95degrees). After fusion the mean angle error was 0.36degrees (SD +/- 0.17). The 95% repeatability limits were below 0.7degrees. There was no significant interobserver difference. Analysis of the cup landmarking pattern by condition numbers and individual landmark errors showed stability. Conclusion: Non-invasive fusion of CT volumes and a stable landmarking pattern for the acetabular cup outperforms routine plain radiography in detecting changes in the orientation of the acetabular axis over time. The method delivers both visual and numerical output and could be used in clinical practice.
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| 5. |
- Rodríguez-Varela, Ricardo, et al.
(författare)
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The genetic history of Scandinavia from the Roman Iron Age to the present
- 2023
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Ingår i: Cell. - : Elsevier. - 0092-8674 .- 1097-4172. ; 186:1, s. 32-46
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Tidskriftsartikel (refereegranskat)abstract
- We investigate a 2,000-year genetic transect through Scandinavia spanning the Iron Age to the present, based on 48 new and 249 published ancient genomes and genotypes from 16,638 modern individuals. We find regional variation in the timing and magnitude of gene flow from three sources: the eastern Baltic, the British-Irish Isles, and southern Europe. British-Irish ancestry was widespread in Scandinavia from the Viking period, whereas eastern Baltic ancestry is more localized to Gotland and central Sweden. In some regions, a drop in current levels of external ancestry suggests that ancient immigrants contributed proportionately less to the modern Scandinavian gene pool than indicated by the ancestry of genomes from the Viking and Medieval periods. Finally, we show that a north-south genetic cline that characterizes modern Scandinavians is mainly due to the differential levels of Uralic ancestry and that this cline existed in the Viking Age and possibly earlier.
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| 6. |
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| 7. |
- Antoniou, Antonis C., et al.
(författare)
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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
- 2011
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 20:16, s. 3304-3321
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Tidskriftsartikel (refereegranskat)abstract
- Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [ hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
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| 8. |
- Barregård, Lars, 1948, et al.
(författare)
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Impact on Population Health of Baltic Shipping Emissions
- 2019
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Ingår i: International Journal of Environmental Research and Public Health. - : MDPI AG. - 1660-4601. ; 16:11
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Tidskriftsartikel (refereegranskat)abstract
- Emission of pollutants from shipping contributes to ambient air pollution. Our aim was to estimate exposure to particulate air pollution (PM2.5) and health effects from shipping in countries around the Baltic Sea, as well as effects of the sulfur regulations for fuels enforced in 2015 by the Baltic Sulfur Emission Control Area (SECA). Yearly PM2.5 emissions, from ship activity data and emission inventories in 2014 and 2016, were estimated. Concentrations and population exposure (0.1 degrees x 0.1 degrees) of PM2.5 were estimated from a chemical transport mode, meteorology, and population density. Excess mortality and morbidity were estimated using established exposure-response (ER) functions. Estimated mean PM2.5 per inhabitant from Baltic shipping was 0.22 mu g/m(3) in 2014 in ten countries, highest in Denmark (0.57 mu g/m(3)). For the ER function with the steepest slope, the number of estimated extra premature deaths was 3413 in total, highest in Germany and lowest in Norway. It decreased by about 35% in 2016 (after SECA), a reduction of >1000 cases. In addition, 1500 non-fatal cases of ischemic heart disease and 1500 non-fatal cases of stroke in 2014 caused by Baltic shipping emissions were reduced by the same extent in 2016. In conclusion, PM2.5 emissions from Baltic shipping, and resulting health impacts decreased substantially after the SECA regulations in 2015.
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| 9. |
- Bring, Torun, et al.
(författare)
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Colour development in copper ruby alkali silicate glasses. : Part 2. The effect of tin (II) oxide and antimony (III) oxide
- 2007
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Ingår i: GLASS TECHNOLOGY-EUROPEAN JOURNAL OF GLASS SCIENCE AND TECHNOLOGY PART A. - : Society of Glass Technology. - 1753-3546. ; 48:3, s. 142-148
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Tidskriftsartikel (refereegranskat)abstract
- The effect of Sb3+ and Sn2+ during the heat treatment of copper ruby alkali silicate glasses is investigated. The reducing power of SnO and Sb2O3 with respect to Cu is investigated and it is concluded that SnO has the strongest reducing capability. When Cu2O and SnO concentrations are low, minor additions of Sb2O3 have an observable impact on colour development and absorbance, as thin pieces of glass develop a bluish tint and a larger shift towards longer wavelengths is observed in UV/vis spectra. The differences in colour and spectra are suggested to be caused by differences in size of the colour forming agent, Cu metal particles.
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| 10. |
- Bring, Torun, et al.
(författare)
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Colour development in copper ruby alkali silicate glasses : Part 1. The impact of tin (II) oxide, time and temperature
- 2007
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Ingår i: Glass Technology, Eur J Glass Sci Technol A. - : Society of Glass Technology. ; 48:2, s. 101-108
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Tidskriftsartikel (refereegranskat)abstract
- The development of the red colour in copper ruby alkali silicate glasses has been studied by means of ultraviolet/visible spectroscopy, TEM and EXAFS. The results show that in both red and slightly overstruck, brownish glasses the colour is due to clusters of metallic copper. Before striking non-coloured glasses contain mainly cuprous ions, Cu+. Tin acts as a reducing agent but also has an accelerating effect on colour development.
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