| 1. |
- Ericsson, Olle, et al.
(författare)
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Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma.
- 2019
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Ingår i: Prenatal diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 39:11, s. 1011-1015
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Tidskriftsartikel (refereegranskat)abstract
- To evaluate clinical performance of a new automated cell-free (cf)DNA assay in maternal plasma screening for trisomies 21, 18, and 13, and to determine fetal sex.Maternal plasma samples from 1200 singleton pregnancies were analyzed with a new non-sequencing cfDNA method, which is based on imaging and counting specific chromosome targets. Reference outcomes were determined by either cytogenetic testing, of amniotic fluid or chorionic villi, or clinical examination of neonates.The samples examined included 158 fetal aneuploidies. Sensitivity was 100% (112/112) for trisomy 21, 89% (32/36) for trisomy 18, and 100% (10/10) for trisomy 13. The respective specificities were 100%, 99.5%, and 99.9%. There were five first pass failures (0.4%), all in unaffected pregnancies. Sex classification was performed on 979 of the samples and 99.6% (975/979) provided a concordant result.The new automated cfDNA assay has high sensitivity and specificity for trisomies 21, 18, and 13 and accurate classification of fetal sex, while maintaining a low failure rate. The study demonstrated that cfDNA testing can be simplified and automated to reduce cost and thereby enabling wider population-based screening.
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| 2. |
- Petersson, Malin, et al.
(författare)
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Patient-reported symptom severity in a nationwide myasthenia gravis cohort : cross-sectional analysis of the Swedish GEMG study
- 2021
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Ingår i: Neurology. - : Lippincott Williams & Wilkins. - 0028-3878 .- 1526-632X. ; 97:14, s. e1382-e1391
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Tidskriftsartikel (refereegranskat)abstract
- Background and Objectives: To describe myasthenia gravis activities of daily living (MG-ADL) in relation to clinical characteristics in a large Swedish nationwide cohort.Methods: In a cross-sectional prevalence cohort study, the Genes and Environment in Myasthenia Gravis study, performed from November 2018 through August 2019, patients with myasthenia gravis (MG) were invited to submit an extensive 106-item life environment questionnaire, including the MG-ADL score. Patients were classified into early-onset MG (EOMG, <50 years), late-onset MG (LOMG, >= 50 years), or thymoma-associated MG (TAMG). Comparisons of disease-specific characteristics were made between subgroups, sexes, and different MG-ADL scores.Results: A total of 1,077 patients were included, yielding a 74% response rate: 505 (47%) were classified as EOMG, 520 (48%) LOMG, and 45 (4%) TAMG. Mean age at inclusion was 64.3 years (SD 15.7) and mean disease duration was 14.6 years (SD 14.0). Complete MG-ADL scores (n = 1,035) ranged from 0p to 18p, where 26% reported a score of 0p. Higher MG-ADL scores were associated with female sex, obesity, and diagnostic delay (odds ratio [OR] 1.62, 1.72, and 1.69; p(adj) = 0.017, 0.013, and 0.008) and inversely correlated with high educational attainment (OR 0.59; p(adj) = 0.02), but not with age at inclusion, disease subtype, or disease duration. Almost half of the population (47%) reported MG-ADL >= 3p, corresponding to an unsatisfactory symptom state.Discussion: In this nationwide study, comprising more than 40% of the prevalent MG population in Sweden, almost half of the patients reported current disease symptoms associated with an unsatisfactory symptom state, indicating the need for improved treatment options.
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| 3. |
- Andersson, Anton, et al.
(författare)
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A Method for Synthesizing Iron Silicate Slags to Evaluate Their Performance as Supplementary Cementitious Materials
- 2023
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Ingår i: Applied Sciences. - : Mdpi. - 2076-3417. ; 13:14
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Tidskriftsartikel (refereegranskat)abstract
- Utilizing iron silicate copper slag as supplementary cementitious material (SCM) is a means to improve resource efficiency and lower the carbon dioxide emissions from cement production. Despite multiple studies on the performance of these slags in SCM applications, the variations in cooling procedure, grinding, and methods for evaluating reactivity limit the ability to assess the influence of chemical composition on reactivity from the literature data. In this study, a methodology was developed to synthesize iron silicate slags, which were then evaluated for their inherent reactivity using the R-3 calorimeter-based experiments. The results demonstrated that laboratory-scale granulation produced the same reactivity as industrially granulated slag. Furthermore, a synthesized triplicate sample showed high repeatability. Based on these two aspects, this method can be used to systematically study the influence of chemical composition on the inherent reactivity of iron silicate slags while producing results that are directly translatable to industrial slags.
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| 4. |
- Andersson, Anton, et al.
(författare)
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Ground granulated iron silicate slag as supplementary cementitious material: Effect of prolonged grinding and granulation temperature
- 2023
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Ingår i: Cleaner Materials. - : Elsevier. - 2772-3976. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- The metallurgical and cement industries contribute significantly to anthropogenic carbon dioxide emissions. Utilizing oxidic by-products from the metallurgical industry as supplementary cementitious materials (SCMs) can improve resource efficiency and reduce emissions from cement production. Iron silicate copper slags have been studied as SCMs, but mainly in systems where Portland cement is used as an activator. There is limited research on the inherent reactivity of the slag under changing processing conditions. The present study offers insight into the effect of granulation temperature and grinding on the inherent reactivity of an industrially produced iron silicate copper slag. The results showed that granulation temperature had an insignificant effect on reactivity, while grinding generated substantial improvements. The latter effect was concluded to stem from the increased specific surface area, increased number of sites for nucleation and growth of hydrates, and changes in the inherent reactivity owing to structural changes induced by the grinding.
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| 5. |
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| 6. |
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| 7. |
- Borg, Sixten, et al.
(författare)
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Patient-Reported Outcome Measures and Risk Factors in a Quality Registry: A Basis for More Patient-Centered Diabetes Care in Sweden
- 2014
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Ingår i: International Journal of Environmental Research and Public Health. - : MDPI AG. - 1660-4601. ; 11:12, s. 12223-12246
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Tidskriftsartikel (refereegranskat)abstract
- Diabetes is one of the chronic diseases that constitute the greatest disease burden in the world. The Swedish National Diabetes Register is an essential part of the diabetes care system. Currently it mainly records clinical outcomes, but here we describe how it has started to collect patient-reported outcome measures, complementing the standard registry data on clinical outcomes as a basis for evaluating diabetes care. Our aims were to develop a questionnaire to measure patient abilities and judgments of their experience of diabetes care, to describe a Swedish diabetes patient sample in terms of their abilities, judgments, and risk factors, and to characterize groups of patients with a need for improvement. Patient abilities and judgments were estimated using item response theory. Analyzing them together with standard risk factors for diabetes comorbidities showed that the different types of data describe different aspects of a patient's situation. These aspects occasionally overlap, but not in any particularly useful way. They both provide important information to decision makers, and neither is necessarily more relevant than the other. Both should therefore be considered, to achieve a more complete evaluation of diabetes care and to promote person-centered care.
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| 8. |
- de Miranda, Noel F. C. C., et al.
(författare)
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DNA repair genes are selectively mutated in diffuse large B cell lymphomas
- 2013
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Ingår i: Journal of Experimental Medicine. - : Rockefeller University Press. - 0022-1007 .- 1540-9538. ; 210:9, s. 1729-1742
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Tidskriftsartikel (refereegranskat)abstract
- DNA repair mechanisms are fundamental for B cell development, which relies on the somatic diversification of the immunoglobulin genes by V(D)J recombination, somatic hypermutation, and class switch recombination. Their failure is postulated to promote genomic instability and malignant transformation in B cells. By performing targeted sequencing of 73 key DNA repair genes in 29 B cell lymphoma samples, somatic and germline mutations were identified in various DNA repair pathways, mainly in diffuse large B cell lymphomas (DLBCLs). Mutations in mismatch repair genes (EXO1, MSH2, and MSH6) were associated with microsatellite instability, increased number of somatic insertions/deletions, and altered mutation signatures in tumors. Somatic mutations in nonhomologous end-joining (NHEJ) genes (DCLRE1C/ARTEMIS, PRKDC/DNA-PKcs, XRCC5/KU80, and XRCC6/KU70) were identified in four DLBCL tumors and cytogenetic analyses revealed that translocations involving the immunoglobulin-heavy chain locus occurred exclusively in NHEJ-mutated samples. The novel mutation targets, CHEK2 and PARP1, were further screened in expanded DLBCL cohorts, and somatic as well as novel and rare germline mutations were identified in 8 and 5% of analyzed tumors, respectively. By correlating defects in a subset of DNA damage response and repair genes with genomic instability events in tumors, we propose that these genes play a role in DLBCL lymphomagenesis.
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| 9. |
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| 10. |
- Farrokhnia, Nasim, et al.
(författare)
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Differential early mitogen-activated protein kinase activation in hyperglycemic ischemic brain injury in the rat
- 2005
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Ingår i: European Journal of Clinical Investigation. - : Wiley. - 0014-2972 .- 1365-2362. ; 35:7, s. 457-463
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Hyperglycemia aggravates brain injury induced by focal ischemia-reperfusion. The mitogen-activated protein kinase (MAPK) members extracellular-signal regulated kinase (Erk) and c-Jun N-terminal kinase (JNK) have been proposed as mediators of ischemic brain injury, and Erk is strongly activated by combined hyperglycemia and transient global ischemia. It is unclear whether similar MAPK activation appears in focal brain ischemia with concomitant hyperglycemia. DESIGN: Hyperglycemia was induced in rats by an intraperitoneal bolus of glucose (2 g kg(-1)). The rats were then subjected to 90 min of transient middle cerebral artery occlusion (MCAO). Erk and JNK activation were investigated with immunofluorescence and Western blot along with infarct size measurement based on tetrazolium staining and neurological score. RESULTS: The hyperglycemic rats showed increased tissue damage and impaired neurological performance after 1 day compared with controls. The hyperglycemia was generally moderate (< 15 mM). Erk activation was increased after 30 min of reperfusion in the ischemic cortex of the hyperglycemic rats, while JNK activation was present on the contralateral side. Phospho-Erk immunofluorescence revealed marked neuronal activation of Erk in the ischemic cortex of hyperglycemic rats compared with controls. CONCLUSION: Besides confirming the detrimental effects of hyperglycemia on focal ischemia-reperfusion, this study shows that hyperglycemia strongly activates the pathogenic mediator Erk in the ischemic brain in the early phase of reperfusion. JNK activation at this stage is present in the nonischemic hemisphere. The functional relevance of these findings needs further investigation.
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