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- Figlioli, G, et al.
(författare)
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The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
- 2020
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Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 12:2
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Tidskriftsartikel (refereegranskat)abstract
- Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2–4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases.
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- Wigsten, Emma, 1984, et al.
(författare)
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Comparing Quality of Life of Patients Undergoing Root Canal Treatment or Tooth Extraction
- 2020
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Ingår i: Journal of Endodontics. - : Elsevier BV. - 0099-2399 .- 1878-3554. ; 46:105, s. 19-28
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: The knowledge of patient-centered outcomes concerning the consequences of root canal treatment in daily life is limited. The treatment option is often tooth extraction with possible prosthetic replacement. This study aimed to achieve a greater understanding of the patient perspective by evaluating the effect of root canal treatment in terms of quality of life and quality-adjusted life year (QALY) weights in comparison with patients who underwent tooth extraction. Methods: Patients with either root canal treatment or extraction were recruited from 6 clinics in the general public dental service during a predetermined period of 8 weeks. Three different instruments were used: the Oral Health Impact Profile evaluating the oral health related quality of life (OHRQOL), the EQ-5D-5L evaluating health-related quality of life (HRQOL) and QALY weights, and a disease-specific questionnaire evaluating satisfaction regarding the root canal treatment. The evaluation was assessed at the initiation of treatment and after 1 month. Patient-based and tooth-specific characteristics were obtained from the dental records. Results: Eighty-five patients were included. The distribution between sexes was even, with 43 women and 42 men. The mean age was 51.1 years. Forty-eight patients (56.5%) had a tooth extraction, and 37 patients (43.5%) initiated root canal treatment. The response rate for the questionnaire at baseline was 95.3%, and at the 1-month follow-up, it was 74.1%. Two relevant and comparable groups were obtained after exclusion of the extracted third molars (n = 20), resulting in 65 patients for further analyses. At follow-up, the patients who initiated root canal treatment registered a significant improvement in perceived HRQOL according to the QALY weights (P = .02 and P < .01, respectively). Patients initiating root canal treatment reported generally high satisfaction. Conclusions: A cohort of patients either initiating root canal treatment or tooth extraction as a control group was established. Initiating root canal treatment had a positive impact on perceived HRQOL. The included patients in general dental practice registered overall high satisfaction regarding root canal treatment.
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- Bengtsson, Karin, 1980, et al.
(författare)
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Comparisons between comorbid conditions and health care consumption in rheumatoid arthritis patients with or without biological disease-modifying antirheumatic drugs : a register-based study
- 2016
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Ingår i: BMC Musculoskeletal Disorders. - : Springer Science and Business Media LLC. - 1471-2474. ; 17:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Symptoms and prognosis of patients with rheumatoid arthritis (RA) have improved with more intensive therapy, including the biological disease-modifying anti-rheumatic drugs (bDMARDs). Real life data concerning how comorbidities are distributed among patients treated or not treated with bDMARDs are scarce. Our objective was to investigate differences in comorbidity and health care consumption in RA patients, with and without bDMARDs.METHODS: This cross-sectional study was performed in the Southwestern part of Sweden. Patients, aged ≥ 18 years and diagnosed with RA in secondary health care during 2009-2010, were identified in the regional health care database. Aggregated data of comorbidity and health care consumption were retrieved between 2006 and 2010. RA patients treated with bDMARDs on 31st December 2010 were identified in the Swedish Rheumatology Quality Register (SRQ), which includes the biologics register Anti-Rheumatic Therapy in Sweden (ARTIS). Descriptive, comparative, univariate and multiple logistic regression analyses were used to identify factors associated with bDMARDs.RESULTS: Seven thousand seven hundred and twelve (7712) RA patients were identified (age 64.8 ± 14.9 years, women 74.3%), of whom 1137 (14.7%) were treated with bDMARDs. Overall, the most common comorbidities were infections (69.2%), hypertension (41.1%), chronic respiratory disease (15.3%), ischemic heart disease (14.0%) and malignancy (13.7%). Patients without bDMARDs were older and had more comorbidity. In the multiple logistic regression analysis, older age, cerebrovascular and chronic respiratory disease, heart failure, depression and malignancy were all associated with no present bDMARDs. Infections were associated with bDMARDs. Patients treated with bDMARDs consumed more secondary outpatient care but less visits in primary health care compared to patients without bDMARDs.CONCLUSIONS: Patients treated with bDMARDs versus no bDMARDs were younger and had significantly lower period prevalence for most common comorbidities, with the exception of infections. Differences in comorbidities between RA patients with or without bDMARDs should be taken into consideration when evaluating effectiveness and safety of bDMARDs in ordinary care.
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- Casula, V., et al.
(författare)
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Quantitative evaluation of the tibiofemoral joint cartilage by T2 mapping in patients with acute anterior cruciate ligament injury vs contralateral knees : results from the subacute phase using data from the NACOX study cohort
- 2022
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Ingår i: Osteoarthritis and Cartilage. - : Elsevier BV. - 1063-4584 .- 1522-9653. ; 30:7, s. 987-997
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Immediate cartilage structural alterations in the acute phase after an anterior cruciate ligament (ACL) rupture may be a precursor to posttraumatic osteoarthritis (PTOA) development. Our aim was to describe changes in cartilage matrix in the subacute phase of the acutely ACL-injured knee compared to the contralateral uninjured knee. Design: Participants (n = 118) aged 15–40 years with an acute ACL injury were consecutively included in subacute phase after acute ACL-injury and underwent MRI (mean 29 days post trauma) of both knees. Mean T2 relaxation times, T2 spatial coefficient of variation and cartilage thickness were determined for different regions of the tibiofemoral cartilage. Differences between the acutely ACL-injured and uninjured knee were evaluated using Wilcoxon signed-rank test. Results: T2 relaxation time in injured knees was increased in multiple cartilage regions from both medial and lateral compartment compared to contralateral knees, mostly in medial trochlea and posterior tibia (P-value<0.001). In the same sites of injured knees, we observed significantly thinner cartilage. Moreover, injured knees presented shorter T2 relaxation time in superficial cartilage on lateral central femur and trochlea (P-value<0.001), and decreased T2 spatial coefficient of variation in lateral trochlea and load bearing regions of medial-central femoral condyle and central tibia in both compartments. Conclusion: Small but statistically significant differences were observed in the subacute phase between ACL-injured and uninjured knee in cartilage T2 relaxation time and cartilage thickness. Future longitudinal observations of the same cohort will allow for better understanding of early development of PTOA. Trial registration number: NCT02931084.
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- Kvist, Anders, et al.
(författare)
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Carrying large fuel loads during sustained bird flight is cheaper than expected
- 2001
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 413:6857, s. 730-732
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Tidskriftsartikel (refereegranskat)abstract
- Birds on migration alternate between consuming fuel stores during flights and accumulating fuel stores during stopovers. The optimal timing and length of flights and stopovers for successful migration depend heavily on the extra metabolic power input (fuel use) required to carry the fuel stores during flight(1,2). The effect of large fuel loads on metabolic power input has never been empirically determined. We measured the total metabolic power input of a long-distance migrant, the red knot (Calidris canutus), flying for 6 to 10 h in a wind tunnel, using the doubly labelled water technique(3). Here we show that total metabolic power input increased with fuel load, but proportionally less than the predicted mechanical power output from the flight muscles. The most likely explanation is that the efficiency with which metabolic power input is converted into mechanical output by the flight muscles increases with fuel load. This will influence current models of bird flight and bird migration. It may also help to explain why some shorebirds, despite the high metabolic power input required to fly, routinely make nonstop flights of 4,000 km longer(4).
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- Kvist, Linus, et al.
(författare)
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Exposure to persistent organic pollutants and sperm sex chromosome ratio in men from the Faroe Islands.
- 2014
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Ingår i: Environment International. - : Elsevier BV. - 1873-6750 .- 0160-4120. ; 73, s. 359-364
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Tidskriftsartikel (refereegranskat)abstract
- People in the Arctic as well as fishermen on the polluted Swedish east coast are highly exposed to persistent organic pollutants (POPs). These compounds have been shown to affect the sperm Y:X chromosome ratio. In present study, the aim was to investigate whether polychlorinated biphenyl (PCB) congeners and 1,1,-dichloro-2,2,-bis(p-chlorophenyl)ethane (p,p'-DDE) influence sperm sex chromosome ratio in Faroese men, and whether these men differ regarding Y:X ratio compared to Greenland Inuit and Swedish fishermen. The study population (n=449) consisted of young men from the general population (n=276) as well as proven fertile men (n=173). The Y:X ratio was assessed by fluorescent in situ hybridization. Serum concentrations of POPs were measured using gas chromatography. Associations between POP concentrations and Y:X ratio were calculated using linear and non-linear regression models as well as trend analysis and pairwise comparison of exposure data categorized into quartiles. The selected POPs were associated with Y:X ratio in fertile Faroese men, but not in the total population; p,p'-DDE (95% CI for B=-0.005 to -0.001, p=0.005) and ΣPCB (95% CI for B=-0.005 to -0.001, p=0.012). Since p,p'-DDE and ΣPCB correlated significantly (r=0.927, p<0.001), the results involving the exposure variables can be regarded as a single finding. The Y:X ratio for the total Faroese population was 0.500±0.018, which was statistically significantly lower than in both Inuit and Swedish fishermen (0.512 for both). In conclusion, Faroese men presented with lower Y:X ratio than Greenland Inuit and Swedish fishermen. Although no direct health effects are expected due to the lower Faroese Y:X ratio, it could be indicative of adverse effects on the reproductive system.
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| 23. |
- Kvist, Ola F. T., et al.
(författare)
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Comparison of reliability of magnetic resonance imaging using cartilage and T1-weighted sequences in the assessment of the closure of the growth plates at the knee
- 2020
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Ingår i: Acta Radiologica Open. - London : Sage Publications. - 2058-4601. ; 9:9, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- Background: Growth development is traditionally evaluated with plain radiographs of the hand and wrist to visualize bone structures using ionizing radiation. Meanwhile, MRI visualizes bone and cartilaginous tissue without radiation exposure. Purpose: To determine the state of growth plate closure of the knee in healthy adolescents and young adults and compare the reliability of staging using cartilage sequences and T1-weighted (T1W) sequence between pediatric and general radiologists. Material and Methods: A prospective, cross-sectional study of MRI of the knee with both cartilage and T1W sequences was performed in 395 male and female healthy subjects aged between 14.0 and 21.5 years old. The growth plate of the femur and the tibia were graded using a modified staging scale by two pediatric and two general radiologists. Femur and tibia were graded separately with both sequences. Results: The intraclass correlation was overall excellent. The inter- and intra-observer agreement for pediatric radiologists on T1W was 82% (kappa = 0.73) and 77% (kappa = 0.65) for the femur and 90% (kappa = 0.82) and 87% (kappa = 0.75) for the tibia. The inter-observer agreement for general radiologists on T1W was 69% (kappa = 0.56) for the femur and 56% (kappa = 0.34) for the tibia. Cohen's kappa coefficient showed a higher inter- and intra-observer agreement for cartilage sequences than for T1W: 93% (kappa = 0.86) and 89% (kappa = 0.79) for the femur and 95% (kappa = 0.90) and 91% (kappa = 0.81) for the tibia. Conclusion: Cartilage sequences are more reliable than T1W sequence in the assessment of the growth plate in adolescents and young adults. Pediatric radiology experience is preferable.
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