| 1. |
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| 2. |
- Paanalahti, Markku, 1961, et al.
(författare)
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Examination of the relevance of the ICF cores set for stroke by comparing with the Stroke Impact Scale.
- 2019
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Ingår i: Disability and Rehabilitation. - : Taylor & Francis. - 0963-8288 .- 1464-5165. ; 41:5, s. 508-513
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To examine if the International Classification of Functioning (ICF) core set for stoke contains problems that are relevant for the persons living with stroke as expressed in the Stroke Impact Scale (SIS).METHODS: Cross-sectional study of 242 persons with previous stroke. The agreement between the perceived problems in the SIS items and problems in the categories of Comprehensive ICF Core Set for stroke were analyzed using percent of agreement and Kappa statistic.RESULTS: The analyses between 57 items of the SIS and 31 second-level categories of the ICF were conducted. The problems in domains of "Mobility", "Activities of daily living", "Hand function", "Strength" in the SIS had moderate agreement when compared to ICF categories. The SIS domains of "Emotion" and "Communication", as well as some aspects of the "Memory" had slight or fair agreement with corresponding ICF categories. The results of the study suggest that there is acceptable agreement between persons after stroke and health professionals in the physical aspects, but rather poor agreement in the cognitive and emotional aspects of functioning.CONCLUSIONS: Health professionals do not fully capture the magnitude of emotional or social problems experienced by persons after stroke when using the ICF Core Set as a framework for evaluation. Implications for Rehabilitation The ICF Core Set for Stroke provides comprehensive list of possible health and health related outcomes for persons after stroke. Problems reported in condition-specific patient-reported outcome scales can be important in decision making in rehabilitation. Patients and health professionals tend to agree more on physical than cognitive problems. Examination of the relevance of the ICF cores set for stroke by comparing with the Stroke Impact Scale.
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| 3. |
- Stevens, Kristen N, et al.
(författare)
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19p13.1 is a triple negative-specific breast cancer susceptibility locus
- 2012
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Ingår i: Cancer Research. - 0008-5472 .- 1538-7445. ; 72, s. 1795-
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Tidskriftsartikel (refereegranskat)abstract
- The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with risk of ovarian cancer. Here we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 Odds Ratio (OR)=1.10, 95% Confidence Interval (CI) 1.05 - 1.15, p=3.49 x 10-5] and triple negative (TN) (ER, PR and HER2 negative) breast cancer [rs8170 OR=1.22, 95% CI 1.13 - 1.31, p=2.22 x 10-7]. However, rs8170 was no longer associated with ER-negative breast cancer risk when TN cases were excluded [OR=0.98, 95% CI 0.89 - 1.07, p=0.62]. In addition, a combined analysis of TN cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC) (n=3,566) identified a genome-wide significant association between rs8170 and TN breast cancer risk [OR=1.25, 95% CI 1.18 - 1.33, p=3.31 x 10-13]. Thus, 19p13.1 is the first triple negative-specific breast cancer risk locus and the first locus specific to a histological subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple negative tumors and other subtypes likely arise through distinct etiologic pathways.
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| 4. |
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| 5. |
- Ahearn, Thomas U., et al.
(författare)
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Common variants in breast cancer risk loci predispose to distinct tumor subtypes
- 2022
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Ingår i: Breast Cancer Research. - : Springer Nature. - 1465-5411 .- 1465-542X. ; 24:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundGenome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear.MethodsAmong 106,571 invasive breast cancer cases and 95,762 controls of European ancestry with data on 173 breast cancer variants identified in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate variants in relation to multiple tumor features (ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and grade) adjusting for each other, and to intrinsic-like subtypes.ResultsEighty-five of 173 variants were associated with at least one tumor feature (false discovery rate < 5%), most commonly ER and grade, followed by PR and HER2. Models for intrinsic-like subtypes found nearly all of these variants (83 of 85) associated at p < 0.05 with risk for at least one luminal-like subtype, and approximately half (41 of 85) of the variants were associated with risk of at least one non-luminal subtype, including 32 variants associated with triple-negative (TN) disease. Ten variants were associated with risk of all subtypes in different magnitude. Five variants were associated with risk of luminal A-like and TN subtypes in opposite directions.ConclusionThis report demonstrates a high level of complexity in the etiology heterogeneity of breast cancer susceptibility variants and can inform investigations of subtype-specific risk prediction.
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| 8. |
- Arndt, Anton, 1968-, et al.
(författare)
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Editorial
- 2021
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Ingår i: Footwear Science. - : Taylor & Francis. - 1942-4280 .- 1942-4299. ; 13:SUP1, s. S1-S3
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 9. |
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| 10. |
- Arndt, Anton, 1968-, et al.
(författare)
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Non-uniform displacement within the Achilles tendon durig passive ankle joint motion.
- 2012
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Ingår i: Knee Surgery, Sports Traumatology, Arthroscopy. - : Springer Science and Business Media LLC. - 0942-2056 .- 1433-7347. ; 20:9, s. 1868-74
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE:An initial step in the understanding of Achilles tendon dynamics is to investigate the effects of passive motion, thereby minimising muscle activation and reducing internal joint forces. Internal tendon dynamics during passive ankle joint motion have direct implications for clinical rehabilitation protocols after Achilles tendon surgery. The aim of this study was to test the hypothesis that tendon tissue displacement is different in different layers of the Achilles tendon during controlled passive ankle joint movements.METHODS:Ultrasound imaging was conducted on the right Achilles tendon of nine healthy recreationally active males. Standardised isokinetic passive dorsi-plantar-flexion movements were performed with a total range of motion of 35°. The tendon was divided into superficial, central and deep layers in the resulting B-mode ultrasound images viewed in the sagittal plane. A block-matching speckle tracking algorithm was applied post-process, with kernels for the measurement of displacement placed in each of the layers.RESULTS:The mean (SD) displacement of the Achilles tendon during passive dorsiflexion was 8.4 (1.9) mm in the superficial layer, 9.4 (1.9) mm in the central portion and 10.4 (2.1) mm in the deep layer, respectively. In all cases, the movement of the deep layer of the tendon was greater than that of the superficial one (P < 0.01).CONCLUSIONS:These results, achieved in vivo with ultrasonographic speckle tracking, indicated complex dynamic differences in different layers of the Achilles tendon, which could have implications for the understanding of healing processes of tendon pathologies and also of normal tendon function.
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| 11. |
- Arndt, Anton, 1968-, et al.
(författare)
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The effect of a midfoot cut in the outer sole of a shoe on intrinsic foot kinematics during walking.
- 2013
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Ingår i: Footwear Science. - : Informa UK Limited. - 1942-4280 .- 1942-4299. ; 5:1, s. 63-69
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Tidskriftsartikel (refereegranskat)abstract
- Modifications in shoe outer soles are frequently made with the intention of altering biomechanics of the foot inside the shoe. These modifications are however, generally based upon intuition with little or no scientific data for support. The purpose of this study was to quantify changes in intrinsic foot segmental kinematics between walking in a neutral shoe and a shoe modified with a clear cut forming a break underneath the midfoot, approximating the Lisfrancs joint.Five healthy male subjects participated in the study. Intracortical pins were inserted under sterile conditions and local anaesthetic in nine different bones of the foot and shank. The subjects performed 10 walking trials in both a neutral, standard, flatsoled, flexible walking shoe and in the same shoe with an approximately 1 cm deep cut aligned with the subjects’ Lisfrancs joint. Material tests showed that the cut reduced midfoot shoe bending stiffness by 23% to 38% and torsional stiffness by 23% to 28%. A helical axis approach was applied for calculating the 3D rotations about relevant joints.Kinematic trajectories in the sagittal, frontal, and transverse planes were normalised to the stance phase for seven selected joints to compare rotation patterns when wearing the two shoe conditions. Although one out of 21 ranges of motion (ROM) showed a significant difference, there is strong reason to regard this as the result of a type 1 error. Apart from this no differences in ROM occurred between the shoe conditions.The low subject number reduced the statistical power of the results. However, the study indicated that outer sole modifications that may be assumed to have clear effects upon foot kinematics, do not necessarily do so.
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| 12. |
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| 14. |
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| 15. |
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| 16. |
- Begon, Mickaël, et al.
(författare)
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Can optimal marker weightings improve thoracohumeral kinematics accuracy?
- 2015
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Ingår i: Journal of Biomechanics. - : Elsevier BV. - 0021-9290 .- 1873-2380. ; 48:10, s. 2019-2025
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Tidskriftsartikel (refereegranskat)abstract
- Local and global optimization algorithms have been developed to estimate joint kinematics to reducing soft movement artifact (STA). Such algorithms can include weightings to account for different STA occur at each marker. The objective was to quantify the benefit of optimal weighting and determine if optimal marker weightings can improve humerus kinematics accuracy. A pin with five reflective markers was inserted into the humerus of four subjects. Seven markers were put on the skin of the arm. Subjects performed 38 different tasks including arm elevation, rotation, daily-living tasks, and sport activities. In each movement, mean and peak errors in skin- vs. pins-orientation were reported. Then, optimal marker weightings were found to best match skin- and pin-based orientation. Without weighting, the error of the arm orientation ranged from 1.9° to 17.9°. With weighting, 100% of the trials were improved and the average error was halved. The mid-arm markers weights were close to 0 for three subjects. Weights of a subject applied to the others for a given movement, and weights of a movement applied to others for a given subject did not systematically increased accuracy of arm orientation. Without weighting, a redundant set of marker and least square algorithm improved accuracy to estimate arm orientation compared to data of the literature using electromagnetic sensor. Weightings were subject- and movement-specific, which reinforces that STA are subject- and movement-specific. However, markers on the deltoid insertion and on lateral and medial epicondyles may be preferred if a limited number of markers is used.
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| 17. |
- Bjerkefors, Anna, et al.
(författare)
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Effects of seated double-poling ergometer training on aerobic and mechanical power in paraplegics
- 2012
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Konferensbidrag (refereegranskat)abstract
- Introduction In wheelchair-dependent individuals with paraplegia, over 80 % would benefit from health-intervention programmes due to increased risks for cardiovascular diseases. One way to reduce the likelihood of secondary complications and/or to enhance physical capacity is to add structured exercise activities to the regular schedule throughout life. A seated double-poling ergometer (SDPE) has been developed and recently evaluated on a group of people with SCI. The results indicated that the SDPE appeared to be a suitable training tool; the shoulder movement was within a range of motion not conducive to musculoskeletal injury and it provided a large range of controllable intensities enabling both endurance and strength training.Purpose To study if regular interval training on a SDPE can increase physical capacity and hence improve performance towards maximal level with safety in individuals with spinal cord injury. Methods Thirteen healthy wheelchair users (8 M, 5 F; 47 ± 12 years, 1.75 ± 0.08 m, 67.9 ± 10.2 kg) with SCI levels ranging from T5 to L1, volunteered for the study. Years post injury varied from 3 to 35. All subjects performed 30 sessions of SDPE training during 10 weeks. Each session lasted approximately 55 min, and included a warm-up, interval training (15 s – 3 min work and 15 s – 2 min rest) and a cool-down. The intensity of the intervals was determined to lead up to 70 – 100 % of peak heart rate. Sub-maximal and maximal double-poling ergometer tests were performed before and after this training period. Oxygen uptake was measured using the Douglas Bag system. Three-dimensional kinematics were recorded using an optoelectronic system. Results Significant improvements after training were observed in oxygen uptake (23 %), ventilation (21 %) and blood lactate (22 %) during maximal exertion exercises (Table 1). Mean power per stroke and peak pole force increased with 15 % and 24 %, respectively. At sub-maximal level, significantly lower values were observed in ventilation (-13 %) and blood lactate (-25 %).Conclusion Regular interval training on the seated double-poling ergometer (SDPE) increased oxygen uptake and power out-put and can be recommended for people with paraplegia below T5 level due to SCI. Despite the high intensity training in this study, no overload symptoms were reported. On the contrary, certain types of musculoskeletal and neuropathic pain seem to benefit from training on the SDPE.
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| 18. |
- Bjerkefors, Anna, et al.
(författare)
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Effects of seated double-poling ergometer training on oxygen uptake, upper-body muscle strength and motor performance in paraplegics
- 2012
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Konferensbidrag (refereegranskat)abstract
- Background: In wheelchair-dependent individuals with paraplegia, over 80 % would benefit from health-intervention programmes due to increased risks for cardiovascular diseases. One way to reduce the likelihood of secondary complications and/or to enhance physical capacity is to add structured exercise activities throughout life.Objective: To study the effects of seated double-poling ergometer (SDPE) training on aerobic capacity, upper-body muscle strength, and cross-over effects on functional performance. Methods: Thirteen individuals with paraplegia performed 30 sessions of SDPE training during 10 weeks. Before and after the training period a) oxygen uptake was measured using the Douglas Bag system during sub-maximal and maximal double-poling ergometer tests, b) trunk, shoulder and elbow muscle strength measurements were performed during maximal voluntary contractions using an isokinetic dynamometer and c) functional tests in wheelchair were performed included; sit-and-reach test, propelling 15 m on a level surface, propelling 50 m up a 3º incline, and propelling 6 min on a 200 m indoor track. Test-retests were performed for all tests before the training began.Results: The average intra-class correlation coefficient for test-retest values was 0.91 (SD 0.07). Significant improvements after training were observed in oxygen uptake (22.7 %), ventilation (20.7 %) and blood lactate (22.0 %) during maximal exertion exercises. At sub-maximal level, significantly lower values were observed in ventilation (-12.8 %) and blood lactate (-25.0 %). Maximal isometric trunk muscle strength (17.0 %) and maximal isokinetic shoulder muscle strength (4.4 %) in flexion and extension improved after training. There were significant improvements in sit-and-reach test in forward directions (7.8 %) and in 15 m sprint test (5.2 %). Conclusion: Regular interval training on the SPDE was effective for individuals with paraplegia to improve aerobic capacity and upper-body muscle strength. Some cross-over effects on functional performance were also shown. Furthermore, the training did not cause any overload symptoms.
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| 19. |
- Bjerkefors, Anna, 1966-, et al.
(författare)
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Seated Double-Poling Ergometer Performance of Individuals with Spinal Cord Injury - A New Ergometer Concept for Standardized Upper Body Exercise
- 2013
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Ingår i: International Journal of Sports Medicine. - : Georg Thieme Verlag KG. - 0172-4622 .- 1439-3964. ; 34:2, s. 176-182
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Tidskriftsartikel (refereegranskat)abstract
- This study aimed to evaluate biomechanics during seated double-poling exercises in individuals with spinal cord injury (SCI) and to compare these with those of able-bodied persons (AB). 26 participants volunteered for the study; 13 with SCI (injury levels C7-T12), and 13 AB. A seated double-poling ergometer (SDPE) was developed. 3-dimensional kinematics was measured and piezoelectric force sensors were used to register force in both poles for calculation of power during incremental intensities. Significantly lower power outputs, (143.2 ± 51.1 vs. 198.3 ± 74.9 W) and pole forces (137.1 ± 43.1 vs. 238.2 ± 81.2 N) were observed during maximal effort in SCI compared to AB. Sagittal upper trunk range of motion increased with intensity and ranged from 6.1–34.8 ° for SCI, and 6.9–31.3 ° for AB, with larger peak amplitudes in flexion for AB (31.4 ± 12.9 °) compared to SCI (10.0 ± 8.0 °). All subjects with SCI were able to exercise on the SDPE. Upper body kinematics, power and force outputs increased with intensity in both groups, but were in general, lower in SCI. In conclusion, the SDPE could be successfully used at low to high work intensities enabling both endurance and strength training for individuals with SCI
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| 20. |
- Bjerkefors, Anna, et al.
(författare)
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Three-dimensional kinematic analysis and power output of elite flat-water kayakers.
- 2018
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Ingår i: Sports Biomechanics. - : Informa UK Limited. - 1476-3141 .- 1752-6116. ; 17:3, s. 414-427
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Tidskriftsartikel (refereegranskat)abstract
- The purpose was to examine power output and three-dimensional (3D) kinematic variables in the upper limbs, lower limbs and trunk in elite flat-water kayakers during kayak ergometer paddling. An additional purpose was to analyse possible changes in kinematics with increased intensity and differences between body sides. Six male and four female international level flat-water kayakers participated. Kinematic and kinetic data were collected during three tasks; low (IntL), high (IntH) and maximal (IntM) intensities. No differences were observed in any joint angles between body sides, except for shoulder abduction. Significantly greater range of motion (RoM) values were observed for IntH compared to IntL and for IntM compared to IntL in trunk and pelvis rotation, and in hip, knee and ankle flexion. The mean maximal power output was 610 ± 65 and 359 ± 33 W for the male and female athletes, respectively. The stroke frequencies were significantly different between all intensities (IntL 59.3 ± 6.3; IntH 108.0 ± 6.8; IntM 141.7 ± 18.4 strokes/min). The results showed that after a certain intensity level, the power output must be increased by other factors than increasing the joint angular RoM. This information may assist coaches and athletes to understand the relationship between the movement of the kayaker and the paddling power output.
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| 21. |
- Bjerkefors, Anna, 1966-, et al.
(författare)
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Three-Dimensional Kinematics and Power Output in Elite Para-Kayakers and Elite Able-Bodied Flat-Water Kayakers.
- 2019
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Ingår i: Journal of Applied Biomechanics. - : Human Kinetics. - 1065-8483 .- 1543-2688. ; , s. 93-100
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Tidskriftsartikel (refereegranskat)abstract
- Trunk, pelvis and leg movement are important for performance in sprint kayaking. Para-kayaking is a new Paralympic sport in which athletes with trunk and/or leg impairment compete in three classification groups. The purpose of this study was to identify how physical impairments impact on performance by examining: differences in three-dimensional joint range of motion (RoM) between 10 (4 females, 6 males) elite able-bodied kayakers and 41 (13 females, 28 males) elite para-kayakersfrom the three classification groups, and which joint angles were correlated with power output during high intensity kayak ergometer paddling. There were significant differences in RoM between the able-bodied kayakers and the three para-kayak groups for the shoulders (flexion, rotation: able-bodied kayakerspara-kayakers) and legs (hip, knee, ankle flexion: able-bodied kayakers>para-kayakers) during paddling. Furthermore, athletes with greater impairment exhibited lower trunk and leg RoM compared to those with less impairment. Significant positive correlations were observed for both males and females between power output and peak shoulder and trunk flexion, trunk and pelvis rotation RoM and hip, knee and ankle flexion RoM. This information is important for understanding how key kinematic and kinetic variables for para-kayaking performance vary between athletes from different classification groups.
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| 22. |
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| 23. |
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| 24. |
- Coignard, J, et al.
(författare)
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
- 2021
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1, s. 1078-
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Tidskriftsartikel (refereegranskat)abstract
- Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.
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| 25. |
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| 26. |
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| 27. |
- Couch, Fergus J., et al.
(författare)
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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
- 2016
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 7:11375, s. 1-13
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Tidskriftsartikel (refereegranskat)abstract
- Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
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| 28. |
- da Silva, Julio Cézar Lima, et al.
(författare)
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Effect of increasing workload on knee extensor and flexor muscular activity during cycling as measured with intramuscular electromyography.
- 2018
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 13:8
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to describe the effect of increasing workload on individual thigh muscle activation during a 20 minute incremental cycling test. Intramuscular electromyographic signals were recorded from the knee extensors rectus femoris, vastus lateralis, vastus medialis and vastus intermedius and the knee flexors semimembranosus, semitendinosus, and the short and long heads of the biceps femoris during increasing workloads. Mean activation levels were compared over the whole pedaling cycle and the crank angles at which onset and offset of activation and peak activity occurred were identified for each muscle. These data were compared between three workloads. EMG activation level significantly increased (p<0.05) with increasing workload in the rectus femoris, vastus medialis, vastus lateralis, vastus intermedius, biceps femoris long head, semitendinosus and semimembranosus but not in the biceps femoris short head. A significant change in activation timing was found for the rectus femoris, vastus lateralis, vastus medialis and semitendinosus. Of the knee flexors only the short head of the biceps femoris had its peak activity during the upstroke phase at the two highest workloads indicating a unique contribution to knee flexion.
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| 29. |
- da Silva, Julio Cézar Lima, et al.
(författare)
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Quadriceps and hamstring muscle activity during cycling as measured with intramuscular electromyography.
- 2016
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Ingår i: European Journal of Applied Physiology. - : Springer Science and Business Media LLC. - 1439-6319 .- 1439-6327. ; 116:9, s. 1807-1817
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: The aim of this study was to describe thigh muscle activation during cycling using intramuscular electromyographic recordings of eight thigh muscles, including the biceps femoris short head (BFS) and the vastus intermedius (Vint).METHODS: Nine experienced cyclists performed an incremental test (start at 170 W and increased by 20 W every 2 min) on a bicycle ergometer either for a maximum of 20 min or to fatigue. Intramuscular electromyography (EMG) of eight muscles and kinematic data of the right lower limb were recorded during the last 20 s in the second workload (190 W). EMG data were normalized to the peak activity occurring during this workload. Statistical significance was assumed at p ≤ 0.05.RESULTS: The vastii showed a greater activation during the 1st quadrant compared to other quadrants. The rectus femoris (RF) showed a similar activation, but with two bursts in the 1st and 4th quadrants in three subjects. This behavior may be explained by the bi-articular function during the cycling movement. Both the BFS and Vint were activated longer than, but in synergy with their respective agonistic superficial muscles.CONCLUSION: Intramuscular EMG was used to verify muscle activation during cycling. The activation pattern of deep muscles (Vint and BFS) could, therefore, be described and compared to that of the more superficial muscles. The complex coordination of quadriceps and hamstring muscles during cycling was described in detail.
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| 30. |
- Dal Maso, Fabien, et al.
(författare)
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Coupling between 3D displacements and rotations at the glenohumeral joint during dynamic tasks in healthy participants.
- 2014
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Ingår i: Clinical Biomechanics. - : Elsevier BV. - 0268-0033 .- 1879-1271. ; 29:9, s. 1048-1055
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Glenohumeral displacements assessment would help to design shoulder prostheses with physiological arthrokinematics and to establish more biofidelic musculoskeletal models. Though displacements were documented during static tasks, there is little information on their 3D coupling with glenohumeral angle during dynamic tasks. Our objective was to characterize the 3D glenohumeral displacement-rotation couplings during dynamic arm elevations and rotations.METHODS: Glenohumeral displacements were measured from trajectories of reflective markers fitted on intracortical pins inserted into the scapula and humerus. Bone geometry was recorded using CT-scan. Only four participants were recruited to the experiment due to its invasiveness. Participants performed dynamic arm abduction, flexion and axial rotations. Linear regressions were performed between glenohumeral displacements and rotations. The pin of the scapula of one participant moved, his data were removed from analysis, and results are based on three participants.FINDINGS: The measurement error of glenohumeral kinematics was less than 0.15mm and 0.2°. Maximum glenohumeral displacements were measured along the longitudinal direction and reached up to +12.4mm for one participant. Significant couplings were reported especially between longitudinal displacement and rotation in abduction (adjusted R(2) up to 0.94).INTERPRETATION: The proposed method provides the potential to investigate glenohumeral kinematics during all kinds of movements. A linear increase of upward displacement during dynamic arm elevation was measured, which contrasts with results based on a series of static poses. The systematic investigation of glenohumeral displacements under dynamic condition may help to provide relevant recommendation for the design of shoulder prosthetic components and musculoskeletal models.
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| 31. |
- Dal Maso, Fabien, et al.
(författare)
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Distance between rotator cuff footprints and the acromion, coracoacromial ligament, and coracoid process during dynamic arm elevations : Preliminary observations : Technical and measurement report
- 2016
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Ingår i: Manual Therapy. - : Elsevier BV. - 1356-689X .- 1532-2769. ; 25, s. 94-99
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Tidskriftsartikel (refereegranskat)abstract
- Background The objective of this study was to provide preliminary measures of the distance between the supraspinatus, infraspinatus, and subscapularis footprints and the acromion, coracoacromial ligament, and coracoid process, during dynamic arm elevations through the entire range-of-motion.
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| 32. |
- Dal Maso, Fabien, et al.
(författare)
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Glenohumeral translations during range-of-motion movements, activities of daily living, and sports activities in healthy participants.
- 2015
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Ingår i: Clinical Biomechanics. - : Elsevier BV. - 0268-0033 .- 1879-1271. ; 30:9, s. 1002-1007
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Glenohumeral translations have been mainly investigated during static poses while shoulder rehabilitation exercises, activities of daily living, and sports activities are dynamic. Our objective was to assess glenohumeral translations during shoulder rehabilitation exercises, activities of daily living, and sports activities to provide a preliminary analysis of glenohumeral arthrokinematics in a broad range of dynamic tasks.METHODS: Glenohumeral translations were computed from trajectories of markers fitted to intracortical pins inserted into the scapula and the humerus. Two participants (P1 and P2) performed full range-of-motion movements including maximum arm elevations and internal-external rotations rehabilitation exercises, six activities of daily living, and five sports activities.FINDINGS: During range-of-motion movements, maximum upward translation was 7.5mm (P1) and 4.7mm (P2). Upward translation during elevations was smaller with the arm internally (3.6mm (P1) and 2.9mm (P2)) than neutrally (4.2mm (P1) and 3.7mm (P2)) and externally rotated (4.3mm (P1) and 4.3mm (P2)). For activities of daily living and sports activities, only anterior translation during reach axilla for P1 and upward translation during ball throwing for P2 were larger than the translation measured during range-of-motion movements (108% and 114%, respectively).INTERPRETATION: While previous electromyography-based studies recommended external rotation during arm elevation to minimize upward translation, measures of glenohumeral translations suggest that internal rotation may be better. Similar amplitude of translation during ROM movement and sports activities suggests that large excursions of the humeral head may be caused not only by fast movements, but also by large amplitude movements.
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| 33. |
- Darabi, H, et al.
(författare)
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Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)
- 2016
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6, s. 32512-
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90–0.94; P = 8.96 × 10−15)) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10−09, r2 = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10−11, r2 = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus.
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| 34. |
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| 35. |
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| 36. |
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| 37. |
- Dennis, J, et al.
(författare)
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Rare germline copy number variants (CNVs) and breast cancer risk
- 2022
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 5:1, s. 65-
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Tidskriftsartikel (refereegranskat)abstract
- Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E−18). Nine other genes were associated with a p-value < 0.01 including known susceptibility genes CHEK2 (P = 0.0008), ATM (P = 0.002) and BRCA2 (P = 0.008). Outside the known genes we detected associations with p-values < 0.001 for either overall or subtype-specific breast cancer at nine deletion regions and four duplication regions. Three of the deletion regions were in established common susceptibility loci. To the best of our knowledge, this is the first genome-wide analysis of rare CNVs in a large breast cancer case-control dataset. We detected associations with exonic deletions in established breast cancer susceptibility genes. We also detected suggestive associations with non-coding CNVs in known and novel loci with large effects sizes. Larger sample sizes will be required to reach robust levels of statistical significance.
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| 38. |
- Dias, Caroline Pieta, et al.
(författare)
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Impaired mechanical properties of Achilles tendon in spastic stroke survivors : an observational study.
- 2019
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Ingår i: Topics in Stroke Rehabilitation. - : Taylor & Francis. - 1074-9357 .- 1945-5119. ; 26:4, s. 261-266
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The spasticity could lead to decreased functional capacity and changes in musculoskeletal tissue.OBJECTIVE: To compare the Achilles tendon properties between the affected and contralateral limbs of participants with spasticity due to stroke and the healthy subjects.METHODS: Fifteen individuals with ankle spasticity due to stroke and 15 healthy subjects were recruited. Maximal isometric ankle joint torque was obtained with an isokinetic dynamometer, and an ultrasound was used to determine tendon length, tendon cross-sectional area, and the medial gastrocnemius myotendinous junction displacement. The Achilles tendon strength, displacement, stress, strain, stiffness, and Young's modulus were obtained during a maximum voluntary isometric plantarflexion contraction.RESULTS: There were no differences between Achilles tendon length among participants. Both limbs of participants with stroke showed reduced tendon cross-sectional area (~18%) compared to healthy limb. The affected limb showed decreased tendon strength (686 ± 293.3 N), displacement (10.6 ± 1.7 mm), Young's modulus values (849 ± 235.6 MPa), and lower stiffness (196.6 ± 67.6 N/mm) compared to the contralateral limb (strength, 1357.1 ± 294.8 N; displacement, 15.2 ± 5.5 mm; Young's modulus, 1431.8 ± 301.9 MPa; stiffness, 337.5 ± 98.1 N/mm) and to the healthy limb. The contralateral limb also showed decreased tendon strength (~26.2%) and stiffness (~21.5%) compared to the healthy group.CONCLUSION: There is a decrement in Achilles tendon morphological and mechanical properties of the affected limb in individuals with spasticity due to stroke. The contralateral limb had a thinner tendon more compliant likely to physical activity reduction.
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| 39. |
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| 40. |
- Dixon-Suen, Suzanne C, et al.
(författare)
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Physical activity, sedentary time and breast cancer risk : a Mendelian randomisation study
- 2022
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Ingår i: British Journal of Sports Medicine. - : BMJ Publishing Group Ltd. - 0306-3674 .- 1473-0480. ; 56:20, s. 1157-1170
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: Physical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses causality by simulating randomised trial groups using genotype. We assessed whether lifelong physical activity or sedentary time, assessed using genotype, may be causally associated with breast cancer risk overall, pre/post-menopause, and by case-groups defined by tumour characteristics.METHODS: We performed two-sample inverse-variance-weighted MR using individual-level Breast Cancer Association Consortium case-control data from 130 957 European-ancestry women (69 838 invasive cases), and published UK Biobank data (n=91 105-377 234). Genetic instruments were single nucleotide polymorphisms (SNPs) associated in UK Biobank with wrist-worn accelerometer-measured overall physical activity (nsnps=5) or sedentary time (nsnps=6), or accelerometer-measured (nsnps=1) or self-reported (nsnps=5) vigorous physical activity.RESULTS: Greater genetically-predicted overall activity was associated with lower breast cancer overall risk (OR=0.59; 95% confidence interval (CI) 0.42 to 0.83 per-standard deviation (SD;~8 milligravities acceleration)) and for most case-groups. Genetically-predicted vigorous activity was associated with lower risk of pre/perimenopausal breast cancer (OR=0.62; 95% CI 0.45 to 0.87,≥3 vs. 0 self-reported days/week), with consistent estimates for most case-groups. Greater genetically-predicted sedentary time was associated with higher hormone-receptor-negative tumour risk (OR=1.77; 95% CI 1.07 to 2.92 per-SD (~7% time spent sedentary)), with elevated estimates for most case-groups. Results were robust to sensitivity analyses examining pleiotropy (including weighted-median-MR, MR-Egger).CONCLUSION: Our study provides strong evidence that greater overall physical activity, greater vigorous activity, and lower sedentary time are likely to reduce breast cancer risk. More widespread adoption of active lifestyles may reduce the burden from the most common cancer in women.
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| 41. |
- Dork, T, et al.
(författare)
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Two truncating variants in FANCC and breast cancer risk
- 2019
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 12524-
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Tidskriftsartikel (refereegranskat)abstract
- Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44–1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.
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| 42. |
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| 43. |
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| 44. |
- Ericson, Anne, et al.
(författare)
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Computed tomography analysis of radiostereometric data to determine flexion axes after total joint replacement : Application to the elbow joint
- 2010
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Ingår i: Journal of Biomechanics. - : Elsevier BV. - 0021-9290 .- 1873-2380. ; 43:10, s. 1947-1952
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Tidskriftsartikel (refereegranskat)abstract
- Kinematic analysis for in vivo assessment of elbow endoprostheses requires knowledge of the exact positions of motion axes relative to bony landmarks or the prosthesis. A prosthesis-based reference system is required for comparison between individuals and studies. The primary aim of this study was to further develop an earlier described algorithm for fusion of radiostereometric analysis (RSA) data and data obtained in 3D computed tomography (CT) for application to the elbow after total joint replacement. The secondary aim was to propose a method for marking of prostheses in 3D CT, enabling definition of a prosthesis-based reference system. Six patients with elbow endoprostheses were investigated. The fusion of data made it possible to visualize the motion axes in relation to the prostheses in the 3D CT volume. The differences between two repeated positioning repetitions of the longitudinal prosthesis axis were less than 0.6 degrees in the frontal and sagittal planes. Corresponding values for the transverse axis were less than 0.6 degrees in the frontal and less than 1.4 degrees (in four out of six less than 0.6 degrees) in the horizontal plane. This study shows that by fusion of CT and RSA data it is possible to determine the accurate position of the flexion axes of the elbow joint after total joint replacement in vivo. The proposed method for implant marking and registration of reference axes enables comparison of prosthesis function between patients and studies.
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| 45. |
- Ericson, Anne, et al.
(författare)
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Fusion of radio stereometric analysis data into computed tomography space : Application to the elbow joint
- 2007
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Ingår i: Journal of Biomechanics. - Oxford, UK : Elsevier Science Ltd. - 0021-9290 .- 1873-2380. ; 40:2, s. 296-304
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Tidskriftsartikel (refereegranskat)abstract
- Improvement of joint prostheses is dependent upon information concerning the biomechanical properties of the joint. Radiostereometric analysis (RSA) and electromagnetic techniques have been applied in previous cadaver and in vivo studies on the elbow joint to provide valuable information concerning joint motion axes. However, such information is limited to mathematically calculated positions of the axes according to an orthogonal coordinate system and is difficult to relate to individual skeletal anatomy. The aim of this study was to evaluate the in vivo application of a new fusion method to provide three-dimensional (31)) visualization of flexion axes according to bony landmarks. In vivo RSA data of the elbow joint's flexion axes was combined with data obtained by 3D computed tomography (CT). Results were obtained from five healthy subjects after one was excluded due to an instable RSA marker. The median error between imported and transformed RSA marker coordinates and those obtained in the CT volume was 0.22mm. Median maximal rotation error after transformation of the rigid RSA body to the CT volume was 0.003 degrees. Points of interception with a plane calculated in the RSA orthogonal coordinate system were imported into the CT volume, facilitating the 3D visualization of the flexion axes. This study demonstrates a successful fusion of RSA and CT data, without significant loss of RSA accuracy. The method could be used for relating individual motion axes to a 3D representation of relevant joint anatomy, thus providing important information for clinical applications such as the development of joint prostheses.
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| 46. |
- Escala-Garcia, Maria, et al.
(författare)
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A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
- 2020
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of germline variants in breast cancer prognosis. This network-based analysis studies similar to 7.3 million variants in 84,457 breast cancer patients in relation to breast cancer survival and confirms the results on 12,381 independent patients. Aggregating the prognostic effects of genetic variants across multiple genes, we identify four gene modules associated with survival in estrogen receptor (ER)-negative and one in ER-positive disease. The modules show biological enrichment for cancer-related processes such as G-alpha signaling, circadian clock, angiogenesis, and Rho-GTPases in apoptosis.
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| 47. |
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| 48. |
- Escala-Garcia, M, et al.
(författare)
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Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
- 2021
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1, s. 19787-
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Tidskriftsartikel (refereegranskat)abstract
- Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10−8 and 4.42 × 10−8). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A. However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations.
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| 49. |
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| 50. |
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