| 1. |
- Bishop, D. Timothy, et al.
(författare)
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Genome-wide association study identifies three loci associated with melanoma risk
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:8, s. 920-925
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Tidskriftsartikel (refereegranskat)abstract
- We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 x 10(-7). Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 x 10(-27) for rs258322), 11q14-q21 encompassing TYR (P = 2.41 x 10(-14) for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 x 10(-7) for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.
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| 2. |
- Rovas, Linas, et al.
(författare)
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Three-dimensional ultrasound assessment of the cervix for predicting time to spontaneous onset of labor and time to delivery in prolonged pregnancy
- 2006
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Ingår i: Ultrasound in Obstetrics & Gynecology. - : Wiley. - 1469-0705 .- 0960-7692. ; 28:3, s. 306-311
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Tidskriftsartikel (refereegranskat)abstract
- Objectives To determine whether three-dimensional (3D) ultrasound including power Doppler examination of the cervix is useful for predicting time to spontaneous onset of labor or time to delivery in prolonged pregnancy. Methods A prospective study was conducted in 60 women who went into spontaneous labor. All underwent transvaginal 3D power Doppler ultrasound examination of the cervix immediately before a prolonged-pregnancy cbeck-up at >= 41 + 5 gestational weeks. Univariate and multivariate logistic regression analysis was used to determine which of the following variables predicted spontaneous onset of labor > 24 h and > 48 h and vaginal delivery > 48 h and > 60 h: length, anteroposterior (AP) diameter and width of the cervix and of any cervical funneling; cervical volume (cm(3)); vascularization index (VI); flow index (FI); vascularization flow index (VEI); parity; and Bishop score. Multivariate logistic regression analysis was carried out both with and without Bishop score as a predictive variable. Receiver-operating characteristics (ROC) curves were used to describe the diagnostic performance of the tests. Results The areas under the ROC curves for Bishop score, cervical length, and logistic regression models did not differ significantly (areas ranging from 0.72 to 0.82). If Bishop score was not included in the logistic regression model, cervical length, VI and FI independently predicted delivery > 48 h, the likelihood increasing with increasing cervical length, decreasing VI and increasing FI. Conclusions In prolonged pregnancy cervical vascularization as estimated by 3D power Doppler ultrasound is related to time to delivery > 48 h, but the likelihood of delivery > 48 h can be predicted equally well using Bishop score alone or sonograpbic cervical length alone Copyright (c) 2006 ISUOG. Published by John Wiley & Sons, Ltd.
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| 3. |
- Van Holsbeke, C., et al.
(författare)
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Ultrasound methods to distinguish between malignant and benign adnexal masses in the hands of examiners with different levels of experience
- 2009
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Ingår i: Ultrasound in Obstetrics & Gynecology. - : Wiley. - 1469-0705 .- 0960-7692. ; 34:4, s. 454-461
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Tidskriftsartikel (refereegranskat)abstract
- Objectives To determine the effect of an ultrasound training course on the performance of pattern recognition when used by less experienced examiners and to compare the performance of pattern recognition, a logistic regression model and a scoring system to estimate the risk of malignancy between examiners with different levels of experience. Methods Using ultrasound images of selected adnexal masses, two trainees classified the masses as benign or malignant by using pattern recognition both before and after they bad attended a theoretical gynecological ultrasound course. They also classified the masses by using a logistic regression model and a scoring system, but only after they bad attended the course. The performance of these three methods when they were used by the trainees was then compared with that when they were used by experts. Results One hundred and sixty-five adnexal masses were included, of which 42% were malignant (21% invasive tumors and 21% borderline tumors). The area under the receiver- operating characteristics curve of pattern recognition when used by the trainees was similar before and after they had attended the course. Training decreased sensitivity (84% vs. 70% for Trainee 1, P = 0.004; 70% vs. 61% for Trainee2, P = 0.08) and increased specificity (77% vs. 92% for Trainee 1, P = 0.001; 89% vs. 95% for Trainee 2, P = 0.058). The performance of pattern recognition was poorer in the hands of the trainees than in the bands of the experts. The sensitivities of the logistic regression model were 70% and 54% for the trainees vs. 83% for an expert (P = 0.020 and < 0.001, respectively) and the specificities were 84% and 94% vs. 89% (P = 0.25 and 0.59, respectively). The sensitivities of the scoring system were 59% and 54% for the trainees vs. 75% for the expert (P = 0.002 and < 0.001, respectively), and the specificities were 90% and 93% vs. 85% (P = 0.103 and 0.008, respectively). Conclusion Theoretical ultrasound teaching did not seem to improve the performance of pattern recognition in the bands of trainees. A logistic regression model and a scoring system to classify adnexal masses as benign or malignant perform less well when they were used by inexperienced examiners than when used by an expert. Before using a model or a scoring system, experience and/or proper training are likely to be of paramount importance if diagnostic performance is to be optimized. Copyright (C) 2009 ISUOG. Published by John Wiley & Sons, Ltd.
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