| 1. |
- Öfverholm, Anna, et al.
(författare)
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Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
- 2023
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Ingår i: BMC Cancer. - : BioMed Central (BMC). - 1471-2407. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundGenetic screening for pathogenic variants (PVs) in cancer predisposition genes can affect treatment strategies, risk prediction and preventive measures for patients and families. For decades, hereditary breast and ovarian cancer (HBOC) has been attributed to PVs in the genes BRCA1 and BRCA2, and more recently other rare alleles have been firmly established as associated with a high or moderate increased risk of developing breast and/or ovarian cancer. Here, we assess the genetic variation and tumor characteristics in a large cohort of women with suspected HBOC in a clinical oncogenetic setting.MethodsWomen with suspected HBOC referred from all oncogenetic clinics in Sweden over a six-year inclusion period were screened for PVs in 13 clinically relevant genes. The genetic outcome was compared with tumor characteristics and other clinical data collected from national cancer registries and hospital records.ResultsIn 4622 women with breast and/or ovarian cancer the overall diagnostic yield (the proportion of women carrying at least one PV) was 16.6%. BRCA1/2 PVs were found in 8.9% of women (BRCA1 5.95% and BRCA2 2.94%) and PVs in the other breast and ovarian cancer predisposition genes in 8.2%: ATM (1.58%), BARD1 (0.45%), BRIP1 (0.43%), CDH1 (0.11%), CHEK2 (3.46%), PALB2 (0.84%), PTEN (0.02%), RAD51C (0.54%), RAD51D (0.15%), STK11 (0) and TP53 (0.56%). Thus, inclusion of the 11 genes in addition to BRCA1/2 increased diagnostic yield by 7.7%. The yield was, as expected, significantly higher in certain subgroups such as younger patients, medullary breast cancer, higher Nottingham Histologic Grade, ER-negative breast cancer, triple-negative breast cancer and high grade serous ovarian cancer. Age and tumor subtype distributions differed substantially depending on genetic finding.ConclusionsThis study contributes to understanding the clinical and genetic landscape of breast and ovarian cancer susceptibility. Extending clinical genetic screening from BRCA1 and BRCA2 to 13 established cancer predisposition genes almost doubles the diagnostic yield, which has implications for genetic counseling and clinical guidelines. The very low yield in the syndrome genes CDH1, PTEN and STK11 questions the usefulness of including these genes on routine gene panels.
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| 2. |
- Bergenholtz, Gunnar, 1939, et al.
(författare)
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Treatment of pulps in teeth affected by deep caries - A systematic review of the literature.
- 2013
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Ingår i: Singapore dental journal. - : World Scientific Pub Co Pte Lt. - 0377-5291. ; 34:1, s. 1-12
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: This systematic review assesses the effect of methods commonly used to manage the pulp in cases of deep caries lesions, and the extent the pulp chamber remains uninfected and does not cause pulpal or periapical inflammatory lesions and associated tooth-ache over time.STUDY DESIGN: An electronic literature search included the databases PubMed, EMBASE, The Cochrane Central Register of Controlled Trials and Cochrane Reviews from January 1950 to March 2013. In addition, hand searches were carried out. Two reviewers independently evaluated abstracts and full-text articles. An article was read in full if at least one of the two reviewers considered the abstract potentially relevant. Altogether, 161 articles were read in full text. Of these, 24 studies fulfilled established inclusion criteria. Based on studies of at least moderate quality, the quality of evidence of each procedure was rated in four levels according to GRADE.RESULTS: No study reached the high quality level. Twelve were of moderate quality. The overall evidence was insufficient to assess which of indirect pulp capping, stepwise excavation, direct excavation and pulp capping/partial pulpotomy, pulpotomy or pulpectomy is the most effective treatment approach for teeth with deep caries.CONCLUSIONS: Because of the lack of good studies it is not possible to determine whether an injured pulp by deep caries can be maintained or whether it should be removed and replaced with a root canal filling. Both randomized studies and prospective observational studies are needed to investigate whether a pulp exposed to deep caries is best treated by measures intended to preserve it or by pulpectomy and root filling.
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| 3. |
- Cristiani, Riccardo, et al.
(författare)
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High prevalence of associated injuries in anterior cruciate ligament tears: A detailed magnetic resonance imaging analysis of 254 patients
- 2024
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Ingår i: Skeletal Radiology. - : SPRINGER. - 0364-2348 .- 1432-2161.
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Tidskriftsartikel (refereegranskat)abstract
- Objectives To evaluate the type and prevalence of associated injuries by using magnetic resonance imaging (MRI) in patients with anterior cruciate ligament (ACL) tears.Methods Data from the Natural Corollaries and Recovery after ACL injury multicenter longitudinal cohort study were analyzed. Between May 2016 and October 2018, patients aged between 15 and 40 years, who had experienced an ACL tear within the last 6 weeks and sought medical attention at one of seven healthcare clinics in Sweden, were invited to participate. The mean time from injury to MRI was 19.6 +/- 15.2 days. An orthopedic knee surgeon and a musculoskeletal radiologist reviewed all the MRI scans. The following structures were assessed: posterior cruciate ligament (PCL), medial collateral ligament (MCL) complex, lateral collateral ligament (LCL), popliteus tendon, medial meniscus (MM), lateral meniscus (LM), and cartilage. In addition, the presence of bone bruising, impaction fractures in the lateral femoral condyle (LFC) or posterolateral tibia (PLT), and Segond fractures were also assessed. Results A total of 254 patients (48.4% males) with a mean age of 25.4 +/- 7.1 years were included. The prevalence of associated injuries was as follows: PCL (0.4%), MCL {41.3% [superficial MCL and deep MCL (dMCL) 16.5%; isolated dMCL 24.8%]}, LCL (2.4%), MM (57.4%), LM (25.2%), cartilage (15.0%), bone bruising (92.9%), impaction fracture in the LFC (45.7%) and PLT (4.7%), and Segond fracture (7.5%).Conclusions The prevalence of associated injuries in patients with ACL tears was high. The findings reported in this study may serve as a reference tool for orthopedic surgeons and radiologists in the diagnosis of associated injuries using MRI in patients with ACL tears.
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| 4. |
- Cristiani, Riccardo, et al.
(författare)
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High prevalence of meniscal ramp lesions in anterior cruciate ligament injuries
- 2023
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Ingår i: Knee Surgery, Sports Traumatology, Arthroscopy. - : Springer. - 0942-2056 .- 1433-7347. ; 31:1, s. 316-324
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Tidskriftsartikel (refereegranskat)abstract
- Purpose To evaluate the prevalence of and factors associated with meniscal ramp lesions on magnetic resonance imaging (MRI) in patients with anterior cruciate ligament (ACL) injuries. Methods Data from the Natural Corollaries and Recovery after ACL injury multicentre longitudinal cohort study (NACOX) were analysed. Only patients who underwent MRI were included in this study. All MRI scans were reviewed by an orthopaedic knee surgeon and a musculoskeletal radiologist. The patients were divided into two groups, those with and without ramp lesions according to MRI findings. Univariable and stepwise forward multiple logistic regression analyses were used to evaluate patient characteristics (age, gender, body mass index, pre-injury Tegner activity level, activity at injury) and concomitant injuries on MRI (lateral meniscus, medial collateral ligament [MCL], isolated deep MCL, lateral collateral ligament, pivot-shift-type bone bruising, posteromedial tibial [PMT] bone bruising, medial femoral condyle bone bruising, lateral femoral condyle [LFC] impaction and a Segond fracture) associated with the presence of meniscal ramp lesions. Results A total of 253 patients (52.2% males) with a mean age of 25.4 +/- 7.1 years were included. The overall prevalence of meniscal ramp lesions was 39.5% (100/253). Univariate analyses showed that contact sports at ACL injury, pivot-shift-type bone bruising, PMT bone bruising, LFC impaction and the presence of a Segond fracture increased the odds of having a meniscal ramp lesion. Stepwise forward multiple logistic regression analysis revealed that the presence of a meniscal ramp lesion was associated with contact sports at ACL injury [odds ratio (OR) 2.50; 95% confidence intervals (CI) 1.32-4.72; P = 0.005], pivot-shift-type bone bruising (OR 1.29; 95% CI 1.01-1.67; P = 0.04), PMT bone bruising (OR 4.62; 95% CI 2.61-8.19; P < 0.001) and the presence of a Segond fracture (OR 4.38; 95% CI 1.40-13.68; P = 0.001). Conclusion The overall prevalence of meniscal ramp lesions in patients with ACL injuries was high (39.5%). Contact sports at ACL injury, pivot-shift-type bone bruising, PMT bone bruising and the presence of a Segond fracture on MRI were associated with meniscal ramp lesions. Given their high prevalence, meniscal ramp lesions should be systematically searched for on MRI in patients with ACL injuries. Knowledge of the factors associated with meniscal ramp lesions may facilitate their diagnosis, raising surgeons and radiologists suspicion of these tears.
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| 5. |
- Cristiani, Riccardo, et al.
(författare)
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High Prevalence of Superficial and Deep Medial Collateral Ligament Injuries on Magnetic Resonance Imaging in Patients With Anterior Cruciate Ligament Tears
- 2024
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Ingår i: Arthroscopy. - : W B SAUNDERS CO-ELSEVIER INC. - 0749-8063 .- 1526-3231. ; 40:1, s. 103-110
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To assess the prevalence of and factors associated with medial collateral ligament (MCL) complex injuries on magnetic resonance imaging (MRI) in patients with anterior cruciate ligament (ACL) tears.Methods: Data were extracted from the Natural Corollaries and Recovery After ACL Injury (NACOX) multicenter longitudinal cohort study. Between May 2016 and October 2018, patients who presented to 1 of 7 health care clinics across Sweden with an ACL tear sustained no more than 6 weeks earlier and who were aged between 15 and 40 years at the time of injury were invited to participate. All the patients included in this study underwent MRI. The mean time from injury to MRI was 19.6 +/- 15.2 days. An orthopaedic surgeon specializing in knee surgery and a musculoskeletal radiologist reviewed all MRI scans. Injuries to the superficial MCL (sMCL), deep MCL (dMCL), and posterior oblique ligament were identified. Stepwise forward multiple binary logistic regression analyses were used to evaluate patient characteristics (age, sex, body mass index, preinjury Tegner activity level, and activity at injury) and injuries on MRI (lateral meniscus [LM] injury, medial meniscus [MM] injury, pivot shift-type bone bruising, medial femoral condyle [MFC] bone bruising, and lateral femoral condyle [LFC] impaction) associated with the presence of MCL complex tears.Results: In total, 254 patients (48.4% male patients) with a mean age of 25.4 +/- 7.1 years were included. The overall prevalence of MCL (sMCL and dMCL) injuries and isolated dMCL injuries was 16.5% (42 of 254) and 24.8% (63 of 254), respectively. No isolated sMCL injuries were found. Posterior oblique ligament injuries were found in 12 patients (4.7%) with MCL (sMCL and dMCL) injuries. An LM injury (odds ratio [OR], 3.94; 95% confidence interval [CI], 1.73-8.94; P = .001) and LFC impaction (OR, 2.37; 95% CI, 1.11-5.07; P = .02) increased the odds of having an MCL injury, whereas an MM injury (OR, 0.26; 95% CI, 0.12-0.59; P = .001) reduced the odds. Isolated dMCL injuries were significantly associated with MFC bone bruising (OR, 4.21; 95% CI, 1.92-9.25; P < .001) and LFC impaction (OR, 3.86; 95% CI, 1.99-7.49; P < .001).Conclusions: The overall combined prevalence of MCL (sMCL and dMCL) injuries and isolated dMCL injuries in patients with ACL tears was high (16.5% + 24.8% = 41.3%). The presence of an LM injury and LFC impaction increased the odds of having an MCL injury, whereas the presence of an MM injury reduced the odds. MFC bone bruising and LFC impaction were associated with the presence of isolated dMCL injuries.Level of Evidence: Level III, retrospective cohort study.
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| 6. |
- Frisk, Fredrik, 1971, et al.
(författare)
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Pulp exposures in adults--choice of treatment among Swedish dentists.
- 2013
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Ingår i: Swedish dental journal. - : Swedish dental association. - 0347-9994. ; 37:3, s. 153-60
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Tidskriftsartikel (refereegranskat)abstract
- This study comprises a survey of Swedish dentists'treatment preferences in cases of carious exposure of the dental pulp in adults.The survey was conducted as part of a comprehensive report on methods of diagnosis and treatment in endodontics, published in 2010 by the Swedish Council on Health Technology Assessment. A questionnaire was mailed to a random subsample of 2012 dental offices where one dentist at each office was requested to answer all questions. Each questionnaire contained one of three sets of questions about endodontic practice routines.Thus around one-third of the subsample received case-specific questions about treating carious exposure. Only general practitioners aged below 70 years were included.The final study sample comprised 412 participants.The dentists were presented with two case scenarios. In Case 1 a 22-year old patient had a deep carious lesion in tooth 36 and in Case 2 a 50-year old patient had a deep carious lesion in tooth 14.The participants were asked to nominate their treatment of choice: pulp capping, partial pulpotomy or pulpectomy. For Case 1, 17 per cent of the respondents selected pulpectomy; the corresponding rate for Case 2 was 47 per cent. Female gender and age group 25-49 years were predictive of selection of less invasive treatment options. However, according to recent guidelines (2011) from the National Board of Health and Wellfare, Swedish dentists are recommended to elect pulpectomy prior to pulp capping/partial pulpotomy when confronted with a tooth having a cariously exposed pulp in adults.
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| 7. |
- Kvist, Joanna, 1967-, et al.
(författare)
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Natural corollaries and recovery after acute ACL injury : The NACOX cohort study protocol
- 2018
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Ingår i: BMJ Open. - : BMJ. - 2044-6055. ; 8:6
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Tidskriftsartikel (refereegranskat)abstract
- Introduction Anterior cruciate ligament (ACL) injury can result in joint instability, decreased functional performance, reduced physical activity and quality of life and an increased risk for post-traumatic osteoarthritis. Despite the development of new treatment techniques and extensive research, the complex and multifaceted nature of ACL injury and its consequences are yet to be fully understood. The overall aim of the NACOX study is to evaluate the natural corollaries and recovery after an ACL injury. Methods and analysis The NACOX study is a multicentre prospective prognostic cohort study of patients with acute ACL injury. At seven sites in Sweden, we will include patients aged 15-40 years, within 6 weeks after primary ACL injury. Patients will complete questionnaires at multiple occasions over the 3 years following injury or the 3 years following ACL reconstruction (for participants who have surgical treatment). In addition, a subgroup of 130 patients will be followed with clinical examinations, several imaging modalities and biological samples. Data analyses will be specific to each aim. Ethics and dissemination This study has been approved by the regional Ethical committee in Linköping, Sweden (Dnr 2016/44-31 and 2017/221-32). We plan to present the results at national and international conferences and in peer-reviewed scientific journals. Participants will receive a short summary of the results following completion of the study. Trial registration number NCT02931084.
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| 8. |
- Sydsjö, Gunilla, et al.
(författare)
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The optimal number of offspring per gamete donor
- 2015
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Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : Informa Healthcare / Wiley. - 0001-6349 .- 1600-0412. ; 94:9, s. 1022-1026
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Tidskriftsartikel (refereegranskat)abstract
- Our aim was to create a mathematical basis to calculate the risks for unintended matings of consanguineous half-siblings from a donor in a society with approximately 10 million inhabitants. The Curie-Cohen model for calculation of the risk for consanguineous mating was used. When the number of offspring per donor is limited to 10, then the model gives a yearly risk for consanguineous matings below 1%. Thus 10 offspring gives a risk for consanguineous matings of 0.9% per year, or approximately once in every 100years. The risk increases exponentially: with 15 offspring it exceeds 2% and with 25 it reaches up above 5%.
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| 9. |
- Thuvander, Mattias, 1968, et al.
(författare)
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Reduction of multiple hits in atom probe tomography
- 2013
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Ingår i: Ultramicroscopy. - : Elsevier. - 0304-3991 .- 1879-2723. ; 132, s. 81-85
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Tidskriftsartikel (refereegranskat)abstract
- The accuracy of compositional measurements using atom probe tomography is often reduced because some ions are not recorded when several ions hit the detector in close proximity to each other and within a very short time span. In some cases, for example in analysis of carbides, the multiple hits result in a preferential loss of certain elements, namely those elements that frequently field evaporate in bursts or as dissociating molecules. In this paper a method of reducing the effect of multiple hits is explored. A fine metal grid was mounted a few millimeters behind the local electrode, effectively functioning as a filter. This resulted in a decrease in the overall detection efficiency, from 37% to about 5%, but also in a decrease in the fraction of multiple hits. In an analysis of tungsten carbide the fraction of ions originating from multiple hits decreased from 46% to 10%. As a result, the measured carbon concentration increased from 48.2 at%to 49.8 at%, very close to the expected 50.0 at%. The characteristics of the multiple hits were compared for analyses with and without the grid filter.
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| 10. |
- Tigerstrand Grevnerts, Hanna, et al.
(författare)
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Decision Making for Treatment After ACL Injury From an Orthopaedic Surgeon and Patient Perspective: Results From the NACOX Study
- 2021
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Ingår i: The Orthopaedic Journal of Sports Medicine. - : Sage Publications. - 2325-9671. ; 9:4
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Tidskriftsartikel (refereegranskat)abstract
- Background: In the treatment of anterior cruciate ligament (ACL) injuries, there is little evidence of when and why a decision for ACL reconstruction (ACLR) or nonoperative treatment (non-ACLR) is made. Purpose: To (1) describe the key characteristics of ACL injury treatment decisions and (2) compare patient-reported knee instability, function, and preinjury activity level between patients with non-ACLR and ACLR treatment decisions. Study Design: Cohort study; Level of evidence, 2. Methods: A total of 216 patients with acute ACL injury were evaluated during the first year after injury. The treatment decision was non-ACLR in 73 patients and ACLR in 143. Reasons guiding treatment decision were obtained from medical charts and questionnaires to patients and orthopaedic surgeons. Patient-reported instability and function were obtained via questionnaires and compared between patients with non-ACLR and ACLR treatment decisions. The ACLR treatment group was classified retrospectively by decision phase: acute phase (decision made between injury day and 31 days after injury), subacute phase (decision made between 32 days and up to 5 months after injury), and late phase (decision made 5-12 months after injury). Data were evaluated using descriptive statistics, and group comparisons were made using parametric or nonparametric tests as appropriate. Results: The main reasons for a non-ACLR treatment decision were no knee instability and no problems with knee function. The main reasons for an ACLR treatment decision were high activity demands and knee instability. Patients in the non-ACLR group were significantly older (P = .031) and had a lower preinjury activity level than did those in the acute-phase (P < .01) and subacute-phase (P = .006) ACLR decision groups. There were no differences in patient-reported instability and function between treatment decision groups at baseline, 4 weeks after injury, or 3 months after injury. Conclusion: Activity demands, not patient-reported knee instability, may be the most important factor in the decision-making process for treatment after ACL injury. We suggest a decision-making algorithm for patients with ACL injuries and no high activity demands; waiting for >3 months can help distinguish those who need surgical intervention from those who can undergo nonoperative management.
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