| 1. |
- Ibstedt, Sebastian, et al.
(författare)
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A cryptic EWSR1::DDIT3 fusion in myxoid liposarcoma: Potential pitfalls with FISH and cytogenetics
- 2023
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Ingår i: Genes Chromosomes and Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 62:3, s. 167-170
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Tidskriftsartikel (refereegranskat)abstract
- Myxoid liposarcoma (MLS) is molecularly characterized by fusions involving the DDIT3 gene in chromosome band 12q13; the fusion partner is FUS in band 16p11 in 90–95% of the cases and EWSR1 in band 22q12 in the remaining 5–10%. Hence, molecular studies, often fluorescence in situ hybridization (FISH) for DDIT3 rearrangement, are useful for establishing a correct diagnosis. Although all MLS tumors should have DDIT3 fusions, it is important to be aware of reasons for potential false-negative results. We here present a case of MLS that was negative for FISH for DDIT3, that showed an unexpected t(11;22) at G-banding, but that displayed a characteristic EWSR1::DDIT3 fusion at RNA-sequencing. The results suggest that neoplasia-associated fusions that, due to the transcriptional orientations of the two genes involved, cannot arise through only two double-strand breaks are more likely to be associated with negative FISH-findings and unexpected karyotypes.
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| 2. |
- Jolbäck, Per, et al.
(författare)
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Patient-reported Outcomes after Primary Total Hip Arthroplasty Are Not Affected by the Sex of the Surgeon : A Register-based Study of 8,383 Procedures in Western Sweden
- 2023
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Ingår i: Journal of the American Academy of Orthopaedic Surgeons. - 1067-151X. ; 31:13, s. 692-700
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Female surgeons remain a minority within the field of orthopaedics, particularly in certain specialties such as arthroplasty. There is no scientific evidence on whether the surgeon's sex affects the patient-reported outcome after orthopaedic surgery such as total hip arthroplasty (THA). We therefore aimed to investigate the association between surgeon sex and health-related quality of life after THA.Methods:Data on primary THAs performed between 2008 and 2016 were collected from 10 hospitals in western Sweden. The data were linked with the Swedish Hip Arthroplasty Register, a regional patient register and the National Board of Health and Welfare, resulting in a data set that included surgeon-related and patient-related data. The outcome of the study was the change in health-related quality of life, measured with the 3-level version of EQ-5D (EQ-5D-3L) Index and EQ-visual analog scale (VAS), before and 1-year after THA. Mixed models, using hierarchical linear regression adjusted for patient sex, age, preoperative health-related quality of life and Charnley classification, were fitted to estimate the gain in EQ-5D-3L Index and EQ-VAS with 95% confidence intervals based on surgeon sex.Results:In total, 8,383 primary THAs were done for osteoarthritis by 193 surgeons. Of those, 37 were women and 156 were men. The regression model was showed that patients operated by female surgeons had a β-coefficient of gain in EQ-5D-3L Index of -0.001 (-0.022 to 0.021) and a β-coefficient of gain in EQ VAS of 0.004 (-0.023 to 0.030), compared with patients operated by male surgeons. Similar results were obtained in a sensitivity analysis including attendings only.Discussion:Patients undergoing primary THA reported similar gain in health-related quality of life regardless of surgeon sex. Based on our results, health-related quality of life after primary THA was not associated with the sex of the operating surgeon.
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| 3. |
- Jolbäck, Per, et al.
(författare)
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The Influence of Surgeon Sex on Adverse Events Following Primary Total Hip Arthroplasty : A Register-Based Study of 11,993 Procedures and 200 Surgeons in Swedish Public Hospitals
- 2022
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Ingår i: The Journal of bone and joint surgery. American volume. - 1535-1386. ; 104:15, s. 1327-1333
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Stereotypes may prevail, but little is known about the influence that the sex of an orthopaedic surgeon may have on outcomes. In a recently published study, there were no differences in the rate of adverse events following total hip arthroplasties (THAs) performed by female or male orthopaedic surgeons. The objective of the present study was to investigate whether there was any difference in adverse events within 90 days following a primary THA performed by either a male or female surgeon in Sweden.METHODS: A retrospective study was performed to evaluate primary THAs performed for osteoarthritis between 2008 and 2016 at 10 hospitals in western Sweden. Local hospital data were linked with the Swedish Hip Arthroplasty Register (SHAR) and with a regional patient register. Data collected from local hospitals and the SHAR included surgeon-related information (e.g., sex, annual volume, and level of training) and patient-related information (e.g., age, sex, and Elixhauser comorbidity index). Adverse events were retrieved from the regional patient register. The definition of adverse events followed the SHAR definition of adverse events. Mixed models were used to investigate the impact of surgeon sex on adverse events.RESULTS: A total of 11,993 primary THAs were performed by 200 surgeons, of whom 17.5% were women. The proportions of adverse events within 90 days were similar for female (6%) and male (7%) surgeons. No association was found between surgeon sex and adverse events (adjusted odds ratio, 0.72; 95% confidence interval, 0.52 to 1.00) when all surgeons (both attendings and residents) were included in the analysis. A sensitivity analysis that included attendings only yielded similar results (adjusted odds ratio, 0.88; 95% confidence interval, 0.60 to 1.29).CONCLUSIONS: Despite a small tendency toward lower rates of adverse events at 90 days after THAs performed by female surgeons, there was no significant association between surgeon sex and the risk of adverse events following THA.LEVEL OF EVIDENCE: Therapeutic Level III . See Instructions for Authors for a complete description of levels of evidence.
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| 4. |
- Köster, Jan, et al.
(författare)
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The diagnostic utility of DNA copy number analysis of core needle biopsies from soft tissue and bone tumors
- 2022
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Ingår i: Laboratory Investigation. - : Elsevier BV. - 0023-6837. ; 102:8, s. 838-845
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Tidskriftsartikel (refereegranskat)abstract
- Morphologic and immunohistochemical analysis of preoperative core needle biopsies (CNB) is important in the management of patients with soft tissue and bone tumors (STBTs). Most SBTB subtypes have more or less extensive DNA copy number aberrations (CNA), potentially providing useful diagnostic information. To evaluate the technical feasibility of single nucleotide polymorphism (SNP) array analysis and the diagnostic usefulness of the copy number profiles, we studied CNBs from 171 patients with suspected STBTs. SNP array analysis could be performed on 168 (98%) of the samples. The CNA profile was compatible with the CNB diagnosis in 87% of the cases. Discrepant cases were dominated by false-negative results due to nonrepresentative material or contamination with normal cells. 70 genomic profiles were indicative of specific histopathologic tumor entities and in agreement with the corresponding CNB diagnoses in 83%. In 96 of the cases with aberrant CNA profiles, the SNP profiles were of sufficient quality for segmentation, allowing clustering analysis on the basis of the Jaccard similarity index. The analysis of these segment files showed three major CNA clusters, based on the complexity levels and the predominance of gains versus losses. For 43 of these CNB samples, we had SNP array data also from their corresponding surgical samples. In 33 of these pairs, the two corresponding samples clustered next to each other, with Jaccard scores ranging from 0.61 to 0.99 (median 0.96). Also, for those tumor pairs that did not cluster together, the Jaccard scores were relatively high (median 0.9). 10 cases showed discrepant results, mainly due to varying degrees of normal cell contamination or technical issues. Thus, the copy number profile seen in a CNB is typically highly representative of the major cell population in the tumor.
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| 5. |
- Striano, Brendan M, et al.
(författare)
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Displaced Supracondylar Humerus Fractures in Toddlers
- 2020
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Ingår i: Orthopedics. - : SLACK, Inc.. - 1938-2367 .- 0147-7447. ; 43:5, s. 421-424
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Tidskriftsartikel (refereegranskat)abstract
- Gartland type III fracture is the most troublesome type of supracondylar humerus fracture. These injuries most often occur in school age children, but they are seen in pediatric patients of all ages. The goal of this study was to analyze toddlers with Gartland type III fractures to identify clinically significant differences compared with older children. A retrospective cohort study was conducted with 94 toddlers (<3 years) and 378 older children (3 to 12 years). Factors including demographics, mechanism of injury, additional injuries, location of trauma, pin configuration, postoperative complications, follow-up time, and compliance with the treatment plan were collected and compared. The study included 94 toddlers (59% girls, 2.11±0.64 years) and 378 older children (48% girls, 6.32±1.89 years), chosen at random, who were treated between 2000 and 2015. Among toddlers, fractures were more likely to occur at home (P<.001) and to be the result of suspected nonaccidental trauma (P<.001). Older children had more additional injuries (P<.001), but were no more likely to have an open fracture (P=.59) or a flexion-type fracture (P=.42). Older children were more likely to undergo open reduction (P=.03), whereas toddlers were more likely to be treated with a medial pin (P<.001). Toddlers experienced more cubitus varus (P<.001) and loss of reduction (P=.02). No difference was found in length of follow-up (P=.83) or compliance with the treatment plan (P=.11). This study provides novel insights into clinical differences between toddlers and older children with Gartland type III fractures. Knowledge of these differences can facilitate the delivery of targeted, age-specific care for patients with type III supracondylar humerus fractures. [Orthopedics. 2020;43(5);e421-e424.].
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| 6. |
- Sydow, Saskia, et al.
(författare)
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MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma
- 2024
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Ingår i: Communications Biology. - 2399-3642. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Well-differentiated liposarcoma (WDLS) displays amplification of genes on chromosome 12 (Chr12) in supernumerary ring or giant marker chromosomes. These structures have been suggested to develop through chromothripsis, followed by circularization and breakage-fusion-bridge (BFB) cycles. To test this hypothesis, we compared WDLSs with Chr12 amplification in rod-shaped chromosomes with WDLSs with rings. Both types of amplicons share the same spectrum of structural variants (SVs), show higher SV frequencies in Chr12 than in co-amplified segments, have SVs that fuse the telomeric ends of co-amplified chromosomes, and lack interspersed deletions. Combined with the finding of cells with transient rod-shaped structures in tumors with ring chromosomes, this suggests a stepwise process starting with the gain of Chr12 material that, after remodeling which does not fit with classical chromothripsis, forms a dicentric structure with other chromosomes. Depending on if and when telomeres from other chromosomes are captured, circularized or linear gain of 12q sequences will predominate.
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| 7. |
- Sydow, Saskia, et al.
(författare)
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MDM2 amplification in rod-shaped chromosomes provides clues to early stages of circularized gene amplification in liposarcoma
- 2024
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Ingår i: Communications Biology. - : Springer Nature. - 2399-3642. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Well-differentiated liposarcoma (WDLS) displays amplification of genes on chromosome 12 (Chr12) in supernumerary ring or giant marker chromosomes. These structures have been suggested to develop through chromothripsis, followed by circularization and breakage-fusion-bridge (BFB) cycles. To test this hypothesis, we compared WDLSs with Chr12 amplification in rod-shaped chromosomes with WDLSs with rings. Both types of amplicons share the same spectrum of structural variants (SVs), show higher SV frequencies in Chr12 than in co-amplified segments, have SVs that fuse the telomeric ends of co-amplified chromosomes, and lack interspersed deletions. Combined with the finding of cells with transient rod-shaped structures in tumors with ring chromosomes, this suggests a stepwise process starting with the gain of Chr12 material that, after remodeling which does not fit with classical chromothripsis, forms a dicentric structure with other chromosomes. Depending on if and when telomeres from other chromosomes are captured, circularized or linear gain of 12q sequences will predominate.
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| 8. |
- Wihl, Jessica, et al.
(författare)
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Leadership perspectives in multidisciplinary team meetings; observational assessment based on the ATLAS instrument in cancer care
- 2020
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Ingår i: Cancer Treatment and Research Communications. - : Elsevier BV. - 2468-2942. ; 25
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: High-quality leadership and chairing skills are central components in team performance during multidisciplinary team (MDT) meetings. We hypothesized that the recently developed A Tumor Leadership Assessment inStrument (ATLAS) could provide relevant information to support more detailed insights into MDT chairing and leadership aspects of relevance for team feedback and targeted improvements. Materials and Methods: The observational assessment instrument ATLAS rates chairing and leadership skills during MDT meetings in 12 predefined domains that include e.g. time management, case prioritization, team involvement, discussion climate and clarity of treatment recommendations. We used ATLAS to prospectively assess 33 MDT meetings in neuro-oncology, sarcoma and hepatobiliary cancer. Results: The aspects time management, effective case prioritization and provision of clear treatment plans were found to be well-functioning, whereas facilitatation of case discussions, encouragment of team member contributions, keeping the meeting focused and ability to summarize case discussions showed variable and partly weak results. Conclusion: We conclude that the ATLAS instrument effectively captures various aspects of MDT leadership and chairing skills. It may thereby provide relevant information to prioritize initiatives that support and develop effective teamwork and decision-making during MDT meetings.
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| 9. |
- Xu, Amy L, et al.
(författare)
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The Importance of Perceived Barriers to Women Entering and Advancing in Orthopaedic Surgery in the US and Beyond
- 2023
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Ingår i: World Journal of Surgery. - 1432-2323. ; 47, s. 3051-3059
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Global perceptions of barriers to women in orthopaedics have not been assessed. The purpose of this study was to determine the importance of international barriers to women entering and advancing within orthopaedic surgery.METHODS: An anonymous, online survey was distributed to women medical students, trainees, and practicing surgeons via Women in Orthopaedics Worldwide, the "Women in Ortho" Facebook page, and individual programmes. Participants were asked to rate perceived barriers to (1) pursuing training and (2) career advancement on a scale of 1-5, with 5 being the most important and relative to other barriers. Descriptive statistics and univariate analyses were employed.RESULTS: The survey yielded 237 US (84.0%) and 45 international (16.0%) respondents. Per entering orthopaedic surgery, the most important barriers were male-dominated culture, lack of a strong women mentor, and lack of female representation at home institution. Compared with the US surgeons/trainees, international respondents cited greater societal disapproval (2.8 ± 1.2 vs. 3.4 ± 1.3, P = 0.01). Medical students assigned less importance to lack of exposure, more to lack of resources for creating competitive applications (P < 0.05). Regarding career advancement, lack of women leadership, family responsibilities, and gender-biased selection for promotion were the most important. International surgeons/trainees noted greater concern for societal disapproval (3.5 ± 1.5 vs. 2.6 ± 1.3, P = 0.003) and were more likely to rank sexual harassment in their top three (17.6 vs. 4.2%, P = 0.02).CONCLUSION: While notable differences exist, there is striking similarity across countries and position levels in perceived barriers to women entering and advancing in orthopaedic surgery.LEVEL OF EVIDENCE: III.
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