1. |
- Bergqvist Rydén, Johanna, et al.
(författare)
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Preface
- 2020
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Ingår i: Interdisciplinary pedagogy in higher education : Proceedings from Lund University's Teaching and Learning Conference 2019 - Proceedings from Lund University's Teaching and Learning Conference 2019. - 9789189213401 ; , s. 5-12
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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2. |
- Gerhardt, Karin, et al.
(författare)
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Nog nu, politiker – ta klimatkrisen på allvar
- 2022
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Ingår i: Aftonbladet Debatt. - 1103-9000. ; -:-
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- 1944 svenska forskare och anställda i forskarvärlden: Vad är det ni inte förstår?
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3. |
- Johansson, Ann-Charlotte, et al.
(författare)
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Cathepsin D mediates cytochrome c release and caspase activation in human fibroblast apoptosis induced by staurosporine
- 2003
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Ingår i: Cell Death and Differentiation. - : Springer Science and Business Media LLC. - 1350-9047 .- 1476-5403. ; 10:11, s. 1253-1259
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Tidskriftsartikel (refereegranskat)abstract
- There is increasing evidence that proteases other than caspases, for example, the lysosomal cathepsins B, D and L, are involved in apoptotic cell death. In the present study, we present data that suggest a role for cathepsin D in staurosporine-induced apoptosis in human foreskin fibroblasts. Cathepsin D and cytochrome c were detected partially released to the cytosol after exposure to 0.1 µM staurosporine for 1 h. After 4 h, activation of caspase-9 and -3 was initiated and later caspase-8 activation and a decrease in full-length Bid were detected. Pretreatment of cells with the cathepsin D inhibitor, pepstatin A, prevented cytochrome c release and caspase activation, and delayed cell death. These results imply that cytosolic cathepsin D is a key mediator in staurosporine-induced apoptosis. Analysis of the relative sequence of apoptotic events indicates that, in this cell type, cathepsin D acts upstream of cytochrome c release and caspase activation.
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4. |
- Kaufmann, Tobias, et al.
(författare)
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Common brain disorders are associated with heritable patterns of apparent aging of the brain
- 2019
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Ingår i: Nature Neuroscience. - : Nature Publishing Group. - 1097-6256 .- 1546-1726. ; 22:10, s. 1617-
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Tidskriftsartikel (refereegranskat)abstract
- Common risk factors for psychiatric and other brain disorders are likely to converge on biological pathways influencing the development and maintenance of brain structure and function across life. Using structural MRI data from 45,615 individuals aged 3-96 years, we demonstrate distinct patterns of apparent brain aging in several brain disorders and reveal genetic pleiotropy between apparent brain aging in healthy individuals and common brain disorders.
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5. |
- Lockmer, Sandra, et al.
(författare)
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Chemotherapy-Free Initial Treatment of Advanced Indolent Lymphoma Has Durable Effect With Low Toxicity : Results From Two Nordic Lymphoma Group Trials With More Than 10 Years of Follow-Up
- 2018
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Ingår i: Journal of Clinical Oncology. - 0732-183X .- 1527-7755. ; 36:33, s. 3315-3323
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: For indolent lymphoma, the optimal timing, sequence, and choice of therapeutic regimens remain a matter of debate. In two Nordic Lymphoma Group randomized trials, symptomatic or clearly progressing patients were treated first line with a rituximab-containing regimen without chemotherapy. The purpose of this study was to assess long-term survival, risk of transformation, and need of new therapies.Methods: Data were collected at cross-sectional follow-up for 321 patients with indolent lymphoma (84% with follicular lymphomas [FL]) included in one of two Nordic Lymphoma Group trials (accrual 1998 to 1999 and 2002 to 2008). All patients received first-line therapy with one or two cycles of four weekly infusions of rituximab 375 mg/m(2), and 148 were randomly allocated to the addition of interferon alfa-2a. Follow-up data were retrieved from initial trial databases and medical records on repeated clinical evaluations.Results: At the end of follow-up, 73% of patients were alive, with a median follow-up after random assignment of 10.6 years. Among all, 36% (38% with FL) had never needed chemotherapy. For patients with FL who required new therapy within 24 months because of early disease progression, the 10-year survival rate was 59% versus 81% for those with longer remission. Interferon was not shown to improve long-term outcome. Transformation was diagnosed in 20% of all patients (2.4% per person-year) and in 18% with FL. An additional malignancy was found in 12%.Conclusion: Approximately one third of patients with symptomatic indolent lymphoma (30% with FL, 23% without FL) did not need new therapy in the long term after first-line rituximab without chemotherapy. In the entire cohort, 10-year survival was excellent with no major safety issues, which suggests that chemotherapy can be delayed safely in the majority of patients.
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6. |
- Moberg, Christina, et al.
(författare)
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De unga gör helt rätt när de stämmer staten
- 2022
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Ingår i: Aftonbladet. - 1103-9000.
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- 1 620 forskare och lärare i forskarvärlden: Vi ställer oss bakom Auroras klimatkrav
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7. |
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8. |
- Adman, Per, et al.
(författare)
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171 forskare: ”Vi vuxna bör också klimatprotestera”
- 2019
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Ingår i: Dagens nyheter (DN debatt). - Stockholm. - 1101-2447.
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- DN DEBATT 26/9. Vuxna bör följa uppmaningen från ungdomarna i Fridays for future-rörelsen och protestera eftersom det politiska ledarskapet är otillräckligt. Omfattande och långvariga påtryckningar från hela samhället behövs för att få de politiskt ansvariga att utöva det ledarskap som klimatkrisen kräver, skriver 171 forskare i samhällsvetenskap och humaniora.
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9. |
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10. |
- Aslan, Devrim Umut, et al.
(författare)
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Communities of Learning in Times of Student Solitude
- 2020
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Ingår i: Interdisciplinary pedagogy in higher education : Proceedings from Lund University's Teaching and Learning Conference 2019 - Proceedings from Lund University's Teaching and Learning Conference 2019. - 9789189213401 ; , s. 105-117
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Bokkapitel (refereegranskat)
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11. |
- Aspnes, Espen H., et al.
(författare)
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Velferdsteknologi i boliger : Muligheter og utfordringer
- 2012
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Målsettingen med denne rapporten er å belyse og diskutere muligheter og utfordringer med implementering av velferdsteknologi knyttet til boligløsninger og det å klare seg godt i egen bolig. Utvikling og implementering av velferdsteknologi forventes å være et viktig grep for å møte de kommende samfunnsutfordringene med en aldrende befolkning, endret sykdomsbilde og knapphet på helse- og omsorgspersonell.Etter å ha presentert nåværende og fremtidige teknologiske muligheter og utfordringer og drøftet disse i forhold til konkrete delmål med implementering av velferdsteknologi i boliger, avsluttes rapporten med å gi noen anbefalinger knyttet til Husbankens ulike roller som pådriver, kompetanseutvikler og kvalitetssikrer.
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12. |
- Barlow, Lotti, et al.
(författare)
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Nationellt fackspråk för vård och omsorg : Slutrapport
- 2011
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Rapport (populärvet., debatt m.m.)abstract
- SammanfattningEtt tillgängligt och använt nationellt fackspråk ska bidra till en god och säker vård och omsorg. Det ska även medverka till att kvaliteten och resultaten på området ska kunna följas upp och jämföras på ett mer effektivt sätt. Slutrapporten presenterar resultatet av projektet Nationellt fackspråk för vård och omsorg samt förslag till förvaltning och utveckling.ResultatetResultatet innefattar bland annat att det internationella begreppssystemet Snomed CT är översatt till svenska och att det är förberett för förvaltning och distribution. Socialstyrelsen har även tagit fram och testat metoder för förvaltning och utveckling av det nationella fackspråket i sin helhet. Därtill har representanter för målgrupperna informerats och fått kunskap.Rapporten innehåller en utförlig beskrivning av det nationella fackspråkets sammantagna innehåll: Socialstyrelsens termbank, klassifikationer och kodverk, den svenska versionen av Snomed CT, metoder för utveckling och förvaltning samt regler för användning.Förvaltning, införande och resursbehovI rapporten finns förslag till hur hela det nationella fackspråket kan tas omhand av Socialstyrelsen och hur det kan införas i vården och omsorgen. Projektets övergång till en långsiktigt hållbar organisation kräver resurser. Därför redogör rapporten för det förväntade resursbehovet för förvaltning och utveckling. Bland annat föreslås en treårig utbildningsinsats samt stimulansbidrag för införande.Krav på styrning, samordning och förtydligat ansvarRapporten betonar behovet av en samlad och medveten styrning av utvecklingen inom området. Socialstyrelsen vill ha en samordnande roll i utvecklingen och förvaltningen av det nationella fackspråket. Myndigheten föreslås få det initiala ansvaret för att utbilda användare och att driva frågor om det nationella fackspråket.Vidare vill Socialstyrelsen få ett uttalat mandat att samordna de nationella aktiviteter som drivs med koppling till Snomed CT. Rapporten pekar ut några särskilt prioriterade områden som myndigheten borde få i uppdrag att arbeta vidare inom.Kunskapsstyrning och normgivningEn viktig slutsats i rapporten är att användningen av det nationella fackspråket behöver regleras för att målet om ökad säkerhet för klienter och patienter ska kunna uppnås. I dagsläget bedöms föreskrifter vara den metod som bäst kan garantera ett brett genomförande.Målgrupper för slutrapportenSlutrapporten riktar sig till beslutsfattare i kommuner och landsting, vård- och omsorgspersonal med särskilt intresse eller ansvar för dokumentationsfrågor och professionella organisationer. Den riktar sig också till terminologiansvariga i kommuner och landsting, IT-direktörer, IT-leverantörer samt aktörer inom den nationella strategin för eHälsa.
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13. |
- Bergholt, Thomas, et al.
(författare)
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Maternal age and risk of cesarean section in women with induced labor at term—A Nordic register-based study
- 2020
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Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : Wiley. - 0001-6349 .- 1600-0412. ; 99:2, s. 283-289
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Over the last decades, induction of labor has increased in many countries along with increasing maternal age. We assessed the effects of maternal age and labor induction on cesarean section at term among nulliparous and multiparous women without previous cesarean section. Material and methods: We performed a retrospective national registry-based study from Denmark, Finland, Iceland, Norway, and Sweden including 3 398 586 deliveries between 2000 and 2011. We investigated the impact of age on cesarean section among 196 220 nulliparous and 188 158 multiparous women whose labor was induced, had single cephalic presentation at term, and no previous cesarean section. Confounders comprised country, time-period, and gestational age. Results: In nulliparous women with induced labor the rate of cesarean section increased from 14.0% in women less than 20 years of age to 39.9% in women 40 years and older. Compared with women aged 25-29 years, the corresponding relative risks were 0.60 (95% confidence interval [95% CI] 0.57 to 0.64) and 1.72 (95% CI 1.66 to 1.79). In multiparous induced women the risk of cesarean section was 3.9% in women less than 20 years rising to 9.1% in women 40 years and older. Compared with women aged 25-29 years, the relative risks were 0.86 (95% CI 0.54 to 1.37) and 1.98 (95% CI 1.84 to 2.12), respectively. There were minimal confounding effects of country, time-period, and gestational age on risk for cesarean section. Conclusions: Advanced maternal age is associated with increased risk of cesarean section in women undergoing labor induction with a single cephalic presentation at term without a previous cesarean section. The absolute risk of cesarean section is 3-5 times higher across 5-year age groups in nulliparous relative to multiparous women having induced labor.
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14. |
- Bhatt, Deepak L., et al.
(författare)
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Rationale, design and baseline characteristics of the effect of ticagrelor on health outcomes in diabetes mellitus patients Intervention study
- 2019
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Ingår i: Clinical Cardiology. - : Wiley. - 0160-9289 .- 1932-8737. ; 42:5, s. 498-505
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Tidskriftsartikel (refereegranskat)abstract
- In the setting of prior myocardial infarction, the oral antiplatelet ticagrelor added to aspirin reduced the risk of recurrent ischemic events, especially, in those with diabetes mellitus. Patients with stable coronary disease and diabetes are also at elevated risk and might benefit from dual antiplatelet therapy. The Effect of Ticagrelor on Health Outcomes in diabEtes Mellitus patients Intervention Study (THEMIS, NCT01991795) is a Phase 3b randomized, double-blinded, placebo-controlled trial of ticagrelor vs placebo, on top of low dose aspirin. Patients >= 50 years with type 2 diabetes receiving anti-diabetic medications for at least 6 months with stable coronary artery disease as determined by a history of previous percutaneous coronary intervention, bypass grafting, or angiographic stenosis of >= 50% of at least one coronary artery were enrolled. Patients with known prior myocardial infarction (MI) or stroke were excluded. The primary efficacy endpoint is a composite of cardiovascular death, myocardial infarction, or stroke. The primary safety endpoint is Thrombolysis in Myocardial Infarction major bleeding. A total of 19 220 patients worldwide have been randomized and at least 1385 adjudicated primary efficacy endpoint events are expected to be available for analysis, with an expected average follow-up of 40 months (maximum 58 months). Most of the exposure is on a 60 mg twice daily dose, as the dose was lowered from 90 mg twice daily partway into the study. The results may revise the boundaries of efficacy for dual antiplatelet therapy and whether it has a role outside acute coronary syndromes, prior myocardial infarction, or percutaneous coronary intervention.
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15. |
- Björklund, Verna, et al.
(författare)
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Early-onset group B streptococcal infections in five Nordic countries with different prevention policies, 1995 to 2019
- 2024
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Ingår i: Eurosurveillance. - : European Centre for Disease Control and Prevention (ECDC). - 1025-496X .- 1560-7917. ; 29:3
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Tidskriftsartikel (refereegranskat)abstract
- Background: Neonatal early-onset disease caused by group B Streptococcus (GBS) is a leading cause of infant morbidity. Intrapartum antibiotic prophylaxis (IAP) is effective in preventing early-onset GBS disease, but there is no agreement on the optimal strategy for identifying the pregnant women requiring this treatment, and both risk-based prophylaxis (RBP) and GBS screening-based prophylaxis (SBP) are used.Aim: The aim of this study was to evaluate the effect of SBP as a public health intervention on the epidemiology of early-onset GBS infections.Methods: In 2012, Finland started the universal SBP, while Denmark, Iceland, Norway and Sweden continued with RBP. We conducted an interrupted time series analysis taking 2012 as the intervention point to evaluate the impact of this intervention. The incidences of early- and late-onset GBS infections during Period I (1995-2011) and Period II (2012-2019) were collected from each national register, covering 6,605,564 live births.Results: In Finland, a reduction of 58% in the incidence of early-onset GBS disease, corresponding to an incidence rate ratio (IRR) of 0.42 (95% CI: 0.34-0.52), was observed after 2012. At the same time, the pooled IRR of other Nordic countries was 0.89 (95% CI: 0.80-1.0), specifically 0.89 (95% CI: 0.70-1.5) in Denmark, 0.34 (95% CI: 0.15-0.81) in Iceland, 0.72 (95% CI: 0.59-0.88) in Norway and 0.97 (95% CI: 0.85-1.1) in Sweden.Conclusions: In this ecological study of five Nordic countries, early-onset GBS infections were approximately halved following introduction of the SBP approach as compared with RBP.
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18. |
- Bunkenborg, Gitte, et al.
(författare)
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Bedside vital parameters that indicate early deterioration
- 2019
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Ingår i: International Journal of Health Care Quality Assurance. - 0952-6862. ; 32:1, s. 262-272
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The purpose of this paper is to determine associations between initially recorded deviations in individual bedside vital parameters that contribute to total Modified Early Warning Score (MEWS) levels 2 or 3 and further clinical deterioration (MEWS level=4). Design/methodology/approach: This was a prospective study in which 27,504 vital parameter values, corresponding to a total MEWS level⩾2, belonging to 1,315 adult medical and surgical inpatient patients admitted to a 90-bed study setting at a university hospital, were subjected to binary logistic and COX regression analyses to determine associations between vital parameter values initially corresponding to total MEWS levels 2 or 3 and later deterioration to total MEWS level ⩾4, and to evaluate corresponding time intervals. Findings: Respiratory rate, heart rate and patient age were significantly (p=0.012, p<0.001 and p=0.028, respectively) associated with further deterioration from a total MEWS level 2, and the heart rate also (p=0.009) from a total MEWS level 3. Within 24 h from the initially recorded total MEWS levels 2 or 3, 8 and 17 percent of patients, respectively, deteriorated to a total MEWS level=4. Patients initially scoring MEWS 2 had a 27 percent 30-day mortality rate if they later scored MEWS level=4, and 8.7 percent if they did not. Practical implications: It is important to observe all patients closely, but especially elderly patients, if total MEWS levels 2 or 3 are tachypnoea and/or tachycardia related. Originality/value: Findings might contribute to patient safety by facilitating appropriate clinical and organizational decisions on adequate time spans for early warning scoring in general ward patients.
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19. |
- Bunkenborg, Gitte, et al.
(författare)
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Lower incidence of unexpected in-hospital death after interprofessional implementation of a bedside track-and-trigger system.
- 2014
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Ingår i: Resuscitation. - : Elsevier BV. - 1873-1570 .- 0300-9572. ; 85:3, s. 424-430
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Tidskriftsartikel (refereegranskat)abstract
- In-hospital patients may suffer unexpected death because of suboptimal monitoring. Early recognition of deviating physiological parameters may enable staff to prevent unexpected in-hospital death. The aim of this study was to evaluate short- and long-term effects of systematic interprofessional use of early warning scoring, structured observation charts, and clinical algorithms for bedside action.
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20. |
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21. |
- Dahlberg, Karin, et al.
(författare)
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Beräkning av olika källors bidrag till luftföroreningar i centrala Göteborg
- 1987
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Det är i många sammanhang av stor betydelse att kunna beräkna olika källors bidrag till luftföroreningar på en viss plats. Vid bedömning av vilka åtgärder som bör vidtas för att uppnå erforderliga förbättringar kan en källbidragsberäkning vara till god hjälp. I rapporten presenteras metoder för källidentifiering (cluster- och faktoranalys) och bidragsberäkning (kemisk massbalans). Dessutom beskrivs i korthet ytterligare beräkningsmodeller; multipel linjär regression samt en modell, som för närvarande utvecklas vid IVL, där källemissionsdata ej behövs. Resultatet av en källbidragsberäkning vi utfört avseende en mätplats i centrala Göteborg (mätdata från den s.k. E-serien), stämmer väl överens med vad man kan förvänta sig vid en sådan mätpunkt. Biltrafiken ger det största bidraget till luftföroreningarna, främst m.a.p. Pb, mutagenicitet och NOx. Koncentrationen av svaveldioxid vid mätplatsen påverkas, förutom av trafiken, även av förbränning av fossila bränslen.
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22. |
- Dahlskog, Karin, et al.
(författare)
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Emissions of N2O, CO, CH4, COS and CS2 from stationary combustion sources.
- 1988
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- This report presents the results from measurements of emissions, especially of nitrous oxide (NaO), from different kinds of stationary combustion sources in Sweden. Emission data have been also determined for carbon monoxide (CO), methane (CH4), ethane C2H6), propane (C3H8), carbon disulfide (CS2) and carbonyl sulfide (COS). The investigation included seventeen combustion plants, representing different dimensions and burning techniques. The fuels used were oil, coal, pulverized coal, natural gas, wood chips, peat, firewood, and black liquor. Concerning the NaO emission no significant differences could be observed for the various fuels. However, the emission seemed to depend on the type of combustion technique. The emissions of N2O from coal and peat combustion in fluidized beds were about 100 ppmv (-70 mg/MJ) and 50 ppmv (-35 mg/MJ), respectively. The larger oil-fired incineration plants emitted approximately 30 ppmv N2O (-15 mg/MJ). For the other plants investigated the concentrations of N2O in the flue gases were less than 10 ppmv (-5 mg/MJ). It should be noted that the amounts of N2O relative to the energy output are based on rough estimations. The emissions of CO and methane were less than 200 and 5 ppmv, respectively, except for combustion of wood chips and firewood, where the values were much higher (CO sometimes exceeding 2000 ppmv, methane 300 ppmv). The COS concentration did not exceed 100 ppbv. CS2, ethane and propane concentrations were, in most of the cases, under the limit of detection.
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23. |
- Ekanem, Emmanuel, et al.
(författare)
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Safety of pulsed field ablation in more than 17,000 patients with atrial fibrillation in the MANIFEST-17K study
- 2024
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Ingår i: Nature Medicine. - : NATURE PORTFOLIO. - 1078-8956 .- 1546-170X.
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Tidskriftsartikel (refereegranskat)abstract
- Pulsed field ablation (PFA) is an emerging technology for the treatment of atrial fibrillation (AF), for which pre-clinical and early-stage clinical data are suggestive of some degree of preferentiality to myocardial tissue ablation without damage to adjacent structures. Here in the MANIFEST-17K study we assessed the safety of PFA by studying the post-approval use of this treatment modality. Of the 116 centers performing post-approval PFA with a pentaspline catheter, data were received from 106 centers (91.4% participation) regarding 17,642 patients undergoing PFA (mean age 64, 34.7% female, 57.8% paroxysmal AF and 35.2% persistent AF). No esophageal complications, pulmonary vein stenosis or persistent phrenic palsy was reported (transient palsy was reported in 0.06% of patients; 11 of 17,642). Major complications, reported for similar to 1% of patients (173 of 17,642), were pericardial tamponade (0.36%; 63 of 17,642) and vascular events (0.30%; 53 of 17,642). Stroke was rare (0.12%; 22 of 17,642) and death was even rarer (0.03%; 5 of 17,642). Unexpected complications of PFA were coronary arterial spasm in 0.14% of patients (25 of 17,642) and hemolysis-related acute renal failure necessitating hemodialysis in 0.03% of patients (5 of 17,642). Taken together, these data indicate that PFA demonstrates a favorable safety profile by avoiding much of the collateral damage seen with conventional thermal ablation. PFA has the potential to be transformative for the management of patients with AF.
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24. |
- Eldh, Christer, et al.
(författare)
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Tactical avoidance of statistics? – How students choose methods in writing theses in interdisciplinary higher education programmes
- 2020
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Ingår i: Interdisciplinary pedagogy in higher education : Proceedings from Lund University's Teaching and Learning Conference 2019 - Proceedings from Lund University's Teaching and Learning Conference 2019. - 9789189213401 ; , s. 21-31
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Konferensbidrag (refereegranskat)abstract
- Eldh discusses the challenges in teaching quantitative methods, in this case statistics, in interdisciplinary courses with mixed methods where both qualitative and quantitative methods are taught. Despite this, most students tend to choose to use qualitative methods in their thesis research and the author researches why this is the case. Literature suggests that students often find statistics courses to be daunting and that students may lack motivation. However, the author finds that in this case the challenges have more to do with the framing of the course in the programme, the instructions from supervisors to their students and the competency of teaching staff when it comes to methods other than the ones they themselves promote. The findings and discussion highlight the importance of collegial communication and mutual understanding.
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25. |
- Fager Ferrari, Marcus, et al.
(författare)
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Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding
- 2018
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Ingår i: Platelets. - : Informa UK Limited. - 0953-7104 .- 1369-1635. ; 29:1, s. 56-64
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Tidskriftsartikel (refereegranskat)abstract
- Familial hemophagocytic lymphohistiocytosis (FHL) is caused by biallelic variants in genes regulating granule secretion in cytotoxic lymphocytes. In FHL3–5, the affected genes UNC13D, STX11 and STXBP2 have further been shown to regulate the secretion of platelet granules, giving rise to compromised platelet function. Therefore, we aimed to investigate platelet degranulation in patients heterozygous for variants in UNC13D, STX11 and STXBP2. During the work-up of patients referred to the Coagulation Unit, Skåne University Hospital, Malmö, Sweden and the Department of Hematology, Rigshospitalet, Copenhagen, Denmark due to bleeding tendencies, 12 patients harboring heterozygous variants in UNC13D, STX11 or STXBP2 were identified using targeted whole exome sequencing. Transmission electron microscopy (TEM) was used to assess the secretion of platelet dense granules following thrombin stimulation. Platelet degranulation, activation and aggregation were further assessed by flow cytometry (FC) and light transmission aggregometry (LTA) with lumi-aggregometry. In total, eight out of twelve (67%) patients showed impaired degranulation by at least one of the assays (TEM, FC and LTA). In the 12 patients, eight different heterozygous variants were identified. One variant was strongly associated with impaired degranulation, while four of the variants were associated with impaired granule secretion to a slightly lesser extent. One additional variant was found in six out of the twelve patients, and was associated with varying degrees of degranulation impairment. Accordingly, six out of the eight (75%) identified variants were associated with impaired platelet degranulation. Our results suggest that heterozygous variants in UNC13D, STX11 and STXBP2 are sufficient to cause platelet secretion defects resulting in increased bleeding.
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