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- Nysjö, Johan, 1985-
(author)
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Interactive 3D Image Analysis for Cranio-Maxillofacial Surgery Planning and Orthopedic Applications
- 2016
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Doctoral thesis (other academic/artistic)abstract
- Modern medical imaging devices are able to generate highly detailed three-dimensional (3D) images of the skeleton. Computerized image processing and analysis methods, combined with real-time volume visualization techniques, can greatly facilitate the interpretation of such images and are increasingly used in surgical planning to aid reconstruction of the skeleton after trauma or disease. Two key challenges are to accurately separate (segment) bone structures or cavities of interest from the rest of the image and to interact with the 3D data in an efficient way. This thesis presents efficient and precise interactive methods for segmenting, visualizing, and analysing 3D computed tomography (CT) images of the skeleton. The methods are validated on real CT datasets and are primarily intended to support planning and evaluation of cranio-maxillofacial (CMF) and orthopedic surgery.Two interactive methods for segmenting the orbit (eye-socket) are introduced. The first method implements a deformable model that is guided and fitted to the orbit via haptic 3D interaction, whereas the second method implements a user-steered volumetric brush that uses distance and gradient information to find exact object boundaries.The thesis also presents a semi-automatic method for measuring 3D angulation changes in wrist fractures. The fractured bone is extracted with interactive mesh segmentation, and the angulation is determined with a technique based on surface registration and RANSAC.Lastly, the thesis presents an interactive and intuitive tool for segmenting individual bones and bone fragments. This type of segmentation is essential for virtual surgery planning, but takes several hours to perform with conventional manual methods. The presented tool combines GPU-accelerated random walks segmentation with direct volume rendering and interactive 3D texture painting to enable quick marking and separation of bone structures. It enables the user to produce an accurate segmentation within a few minutes, thereby removing a major bottleneck in the planning procedure.
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- Winter, C, et al.
(author)
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Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic
- 2016
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In: Annals of Oncology. - : Elsevier BV. - 1569-8041 .- 0923-7534. ; 27:8, s. 8-1532
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Journal article (peer-reviewed)abstract
- BACKGROUND: A mutation found in the BRCA1 or BRCA2 gene of a breast tumor could be either germline or somatically acquired. The prevalence of somatic BRCA1/2 mutations and the ratio between somatic and germline BRCA1/2 mutations in unselected breast cancer patients are currently unclear.PATIENTS AND METHODS: Paired normal and tumor DNA was analyzed for BRCA1/2 mutations by massively parallel sequencing in an unselected cohort of 273 breast cancer patients from south Sweden.RESULTS: Deleterious germline mutations in BRCA1 (n = 10) or BRCA2 (n = 10) were detected in 20 patients (7%). Deleterious somatic mutations in BRCA1 (n = 4) or BRCA2 (n = 5) were detected in 9 patients (3%). Accordingly, about 1 in 9 breast carcinomas (11%) in our cohort harbor a BRCA1/2 mutation. For each gene, the tumor phenotypes were very similar regardless of the mutation being germline or somatically acquired, whereas the tumor phenotypes differed significantly between wild-type and mutated cases. For age at diagnosis, the patients with somatic BRCA1/2 mutations resembled the wild-type patients (median age at diagnosis, germline BRCA1: 41.5 years; germline BRCA2: 49.5 years; somatic BRCA1/2: 65 years; wild-type BRCA1/2: 62.5 years).CONCLUSIONS: In a population without strong germline founder mutations, the likelihood of a BRCA1/2 mutation found in a breast carcinoma being somatic was ∼1/3 and germline 2/3. This may have implications for treatment and genetic counseling.
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