| 1. |
- Allentoft, Morten E., et al.
(författare)
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100 ancient genomes show repeated population turnovers in Neolithic Denmark
- 2024
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Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 625, s. 329-337
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Tidskriftsartikel (refereegranskat)abstract
- Major migration events in Holocene Eurasia have been characterized genetically at broad regional scales1–4. However, insights into the population dynamics in the contact zones are hampered by a lack of ancient genomic data sampled at high spatiotemporal resolution5–7. Here, to address this, we analysed shotgun-sequenced genomes from 100 skeletons spanning 7,300 years of the Mesolithic period, Neolithic period and Early Bronze Age in Denmark and integrated these with proxies for diet (13C and 15N content), mobility (87Sr/86Sr ratio) and vegetation cover (pollen). We observe that Danish Mesolithic individuals of the Maglemose, Kongemose and Ertebølle cultures form a distinct genetic cluster related to other Western European hunter-gatherers. Despite shifts in material culture they displayed genetic homogeneity from around 10,500 to 5,900 calibrated years before present, when Neolithic farmers with Anatolian-derived ancestry arrived. Although the Neolithic transition was delayed by more than a millennium relative to Central Europe, it was very abrupt and resulted in a population turnover with limited genetic contribution from local hunter-gatherers. The succeeding Neolithic population, associated with the Funnel Beaker culture, persisted for only about 1,000 years before immigrants with eastern Steppe-derived ancestry arrived. This second and equally rapid population replacement gave rise to the Single Grave culture with an ancestry profile more similar to present-day Danes. In our multiproxy dataset, these major demographic events are manifested as parallel shifts in genotype, phenotype, diet and land use.
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| 2. |
- Allentoft, Morten E., et al.
(författare)
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Population genomics of post-glacial western Eurasia
- 2024
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Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 625:7994, s. 301-311
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Tidskriftsartikel (refereegranskat)abstract
- Western Eurasia witnessed several large-scale human migrations during the Holocene1–5. Here, to investigate the cross-continental effects of these migrations, we shotgun-sequenced 317 genomes—mainly from the Mesolithic and Neolithic periods—from across northern and western Eurasia. These were imputed alongside published data to obtain diploid genotypes from more than 1,600 ancient humans. Our analyses revealed a ‘great divide’ genomic boundary extending from the Black Sea to the Baltic. Mesolithic hunter-gatherers were highly genetically differentiated east and west of this zone, and the effect of the neolithization was equally disparate. Large-scale ancestry shifts occurred in the west as farming was introduced, including near-total replacement of hunter-gatherers in many areas, whereas no substantial ancestry shifts happened east of the zone during the same period. Similarly, relatedness decreased in the west from the Neolithic transition onwards, whereas, east of the Urals, relatedness remained high until around 4,000 bp, consistent with the persistence of localized groups of hunter-gatherers. The boundary dissolved when Yamnaya-related ancestry spread across western Eurasia around 5,000 bp, resulting in a second major turnover that reached most parts of Europe within a 1,000-year span. The genetic origin and fate of the Yamnaya have remained elusive, but we show that hunter-gatherers from the Middle Don region contributed ancestry to them. Yamnaya groups later admixed with individuals associated with the Globular Amphora culture before expanding into Europe. Similar turnovers occurred in western Siberia, where we report new genomic data from a ‘Neolithic steppe’ cline spanning the Siberian forest steppe to Lake Baikal. These prehistoric migrations had profound and lasting effects on the genetic diversity of Eurasian populations.
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| 3. |
- Bauer, Michael, et al.
(författare)
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Association between solar insolation and a history of suicide attempts in bipolar I disorder.
- 2019
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Ingår i: Journal of psychiatric research. - : Elsevier BV. - 1879-1379 .- 0022-3956. ; 113, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- In many international studies, rates of completed suicide and suicide attempts have a seasonal pattern that peaks in spring or summer. This exploratory study investigated the association between solar insolation and a history of suicide attempt in patients with bipolar I disorder. Solar insolation is the amount of electromagnetic energy from the Sun striking a surface area on Earth. Data were collected previously from 5536 patients with bipolar I disorder at 50 collection sites in 32 countries at a wide range of latitudes in both hemispheres. Suicide related data were available for 3365 patients from 310 onset locations in 51 countries. 1047 (31.1%) had a history of suicide attempt. There was a significant inverse association between a history of suicide attempt and the ratio of mean winter solar insolation/mean summer solar insolation. This ratio is smallest near the poles where the winter insolation is very small compared to the summer insolation. This ratio is largest near the equator where there is relatively little variation in the insolation over the year. Other variables in the model that were positively associated with suicide attempt were being female, a history of alcohol or substance abuse, and being in a younger birth cohort. Living in a country with a state-sponsored religion decreased the association. (All estimated coefficients p<0.01). In summary, living in locations with large changes in solar insolation between winter and summer may be associated with increased suicide attempts in patients with bipolar disorder. Further investigation of the impacts of solar insolation on the course of bipolar disorder is needed.
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| 4. |
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| 5. |
- Bishop, Kevin, et al.
(författare)
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The Effects of Forestry on Hg Bioaccumulation in Nemoral/Boreal Waters and Recommendations for Good Silvicultural Practice
- 2009
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Ingår i: Ambio. - : Royal Swedish Academy of Sciences. - 0044-7447 .- 1654-7209. ; 38:7, s. 373-380
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Tidskriftsartikel (refereegranskat)abstract
- Mercury (Hg) levels are alarmingly high in fish from lakes across Fennoscandia and northern North America. The few published studies on the ways in which silviculture practices influence this problem indicate that forest operations increase Hg in downstream aquatic ecosystems. From these studies, we estimate that between one-tenth and one-quarter of the Hg in the fish of high-latitude, managed forest landscapes can be attributed to harvesting. Forestry, however, did not create the elevated Hg levels in the soils, and waterborne Hg/MeHg concentrations downstream from harvested areas are similar to those from wetlands. Given the current understanding of the way in which silviculture impacts Hg cycling, most of the recommendations for good forest practice in Sweden appear to be appropriate for high-latitude regions, e.g., leaving riparian buffer zones, as well as reducing disturbance at stream crossings and in moist areas. The recommendation to restore wetlands and reduce drainage, however, will likely increase Hg/MeHg loadings to aquatic ecosystems
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| 6. |
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| 7. |
- Eklöf, Karin, et al.
(författare)
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Impact of Forestry on Total and Methyl-Mercury in Surface Waters : Distinguishing Effects of Logging and Site Preparation
- 2014
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Ingår i: Environmental Science and Technology. - : American Chemical Society (ACS). - 0013-936X .- 1520-5851. ; 48:9, s. 4690-4698
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Tidskriftsartikel (refereegranskat)abstract
- Forestry operations can increase the export of mercury (both total and methyl) to surface waters. However, little is known about the relative contribution of different forestry practices. We address this question using a paired-catchment study that distinguishes the effects of site preparation from the antecedent logging. Runoff water from three catchments, two harvested and one untreated control, was sampled biweekly during one year prior to logging, two years after logging, and three years after site preparation. The logging alone did not significantly increase the concentrations of either total or methyl-mercury in runoff, but export increased by 50-70% in one of the harvested catchments as a consequence of increased runoff volume. The combined effects of logging and site preparation increased total and methyl-mercury concentrations by 30-50% relative to preharvest conditions in both treated catchments. The more pronounced concentration effect after site preparation compared to logging could be related to site preparation being conducted during summer. This caused more soil disturbance than logging, which was done during winter with snow covering the ground. The results suggest that the cumulative impact of forest harvest on catchment mercury outputs depends on when and how forestry operations are implemented.
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| 8. |
- Hansen, Aleksander L., et al.
(författare)
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Birthweight is associated with clinical characteristics in people with recently diagnosed type 2 diabetes
- 2023
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Ingår i: Diabetologia. - 0012-186X. ; 66:9, s. 1680-1692
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Tidskriftsartikel (refereegranskat)abstract
- Aims/hypothesis: Low birthweight is a risk factor for type 2 diabetes but it is unknown whether low birthweight is associated with distinct clinical characteristics at disease onset. We examined whether a lower or higher birthweight in type 2 diabetes is associated with clinically relevant characteristics at disease onset. Methods: Midwife records were traced for 6866 individuals with type 2 diabetes in the Danish Centre for Strategic Research in Type 2 Diabetes (DD2) cohort. Using a cross-sectional design, we assessed age at diagnosis, anthropomorphic measures, comorbidities, medications, metabolic variables and family history of type 2 diabetes in individuals with the lowest 25% of birthweight (<3000 g) and highest 25% of birthweight (>3700 g), compared with a birthweight of 3000–3700 g as reference, using log-binomial and Poisson regression. Continuous relationships across the entire birthweight spectrum were assessed with linear and restricted cubic spline regression. Weighted polygenic scores (PS) for type 2 diabetes and birthweight were calculated to assess the impact of genetic predispositions. Results: Each 1000 g decrease in birthweight was associated with a 3.3 year (95% CI 2.9, 3.8) younger age of diabetes onset, 1.5 kg/m2 (95% CI 1.2, 1.7) lower BMI and 3.9 cm (95% CI 3.3, 4.5) smaller waist circumference. Compared with the reference birthweight, a birthweight of <3000 g was associated with more overall comorbidity (prevalence ratio [PR] for Charlson Comorbidity Index Score ≥3 was 1.36 [95% CI 1.07, 1.73]), having a systolic BP ≥155 mmHg (PR 1.26 [95% CI 0.99, 1.59]), lower prevalence of diabetes-associated neurological disease, less likelihood of family history of type 2 diabetes, use of three or more glucose-lowering drugs (PR 1.33 [95% CI 1.06, 1.65]) and use of three or more antihypertensive drugs (PR 1.09 [95% CI 0.99, 1.20]). Clinically defined low birthweight (<2500 g) yielded stronger associations. Most associations between birthweight and clinical characteristics appeared linear, and a higher birthweight was associated with characteristics mirroring lower birthweight in opposite directions. Results were robust to adjustments for PS representing weighted genetic predisposition for type 2 diabetes and birthweight. Conclusion/interpretation: Despite younger age at diagnosis, and fewer individuals with obesity and family history of type 2 diabetes, a birthweight <3000 g was associated with more comorbidities, including a higher systolic BP, as well as with greater use of glucose-lowering and antihypertensive medications, in individuals with recently diagnosed type 2 diabetes.
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| 9. |
- Johnsen, Marianne Bakke, et al.
(författare)
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The association between smoking and knee osteoarthritis in a cohort of Danish patients undergoing knee arthroscopy
- 2019
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Ingår i: BMC Musculoskeletal Disorders. - : Springer Science and Business Media LLC. - 1471-2474. ; 20:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: It has been suggested that smoking is associated with reduced risk of knee osteoarthritis (OA). However, supplementary studies are needed to further investigate any such potential association. Thus, our aim was to examine the relationship between smoking and early or more established knee OA in a cohort of relatively young patients with meniscal tears. Methods: This cross-sectional study included 620 participants from the Knee Arthroscopy Cohort Southern Denmark (KACS) undergoing knee arthroscopy for a meniscal tear (mean age 49.2 (18.0-76.8) years). Recruitment of patients was performed between February 1, 2013, and January 31, 2015, at four different hospitals in Denmark. We defined early or more established knee OA as the combination of patient-reported frequent knee pain, degenerative meniscal tissue and presence of cartilage defects assessed by the operating surgeons. The relationship between smoking status and knee OA was examined by risk ratio (RR) with a 95% confidence interval (CI), estimated from logistic regression adjusted for age, sex, BMI, education, work status and level of physical activity. Results: The prevalence of early or more established knee OA was 37.7% in current smokers and 45.0% in non-smokers. We found no statistically significant association between current smoking and knee OA (adjusted RR 1.09, 95% CI 0.91-1.30). Conclusions: This study found no relationship between current smoking and early or more established knee OA in a cohort of patients undergoing arthroscopic meniscal surgery. Thus, the inverse association between smoking and knee OA that has been suggested by previous studies was not confirmed.
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| 10. |
- Laudon, Hjalmar, et al.
(författare)
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Response of Dissolved Organic Carbon following Forest Harvesting in a Boreal Forest
- 2009
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Ingår i: AMBIO: A Journal of the Human Environment. - : Royal Swedish Academy of Sciences. - 0044-7447 .- 1654-7209. ; 38, s. 381-386
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Tidskriftsartikel (refereegranskat)abstract
- To determine if forestry affects stream water dissolved organic carbon (DOC) concentrations, we conducted high frequency water sampling at a clear-cut catchment experiment in northern Sweden 1 year after harvesting. The overall finding was that harvesting significantly increased stream water DOC in these boreal forest catchments, at least during the growing season. The results indicate a DOC concentration increase of up to 50% during early summer on the two harvested catchments relative to the two control catchments. The analysis supports the hypothesis that a raised groundwater level following harvesting caused the increased DOC concentration during both hydrological episodes and low flow conditions. Harvesting resulted in a 70% increase in DOC export due to the combined effect of runoff and DOC concentration during the June-October study period. Given the extent of forestry activity in the boreal landscape, these results demonstrate that tree harvesting will affect the water quality of the region.
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| 11. |
- Lyon, Steve, et al.
(författare)
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Using landscape characteristics to define an adjusted distance metric for improving kriging interpolations
- 2010
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Ingår i: International Journal of Geographical Information Science. - : Informa UK Limited. - 1365-8816 .- 1365-8824 .- 1362-3087. ; 24:5, s. 723-740
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Tidskriftsartikel (refereegranskat)abstract
- Interpolation of point measurements using geostatistical techniques such as kriging can be used to estimate values at non-sampled locations in space. Traditional geostatistics are based on the spatial autocorrelation concept that nearby things are more related than distant things. In this study, additional information was used to modify the traditional Euclidean concept of distance into an adjusted distance metric that incorporates similarity in terms of quantifiable landscape characteristics such as topography or land use. This new approach was tested by interpolating soil moisture content, pH and carbon-tonitrogen (C:N) ratio measured in both the mineral and the organic soil layers at a field site in central Sweden. Semivariograms were created using both the traditional distance metrics and the proposed adjusted distance metrics to carry out ordinary kriging (OK) interpolations between sampling points. In addition, kriging with external drift (KED) was used to interpolate soil properties to evaluate the ability of the adjusted distance metric to incorporate secondary data into interpolations. The new adjusted distance metric typically lowered the nugget associated with the semivariogram, thereby better representing small-scale variability in the measured data compared to semivariograms based on the traditional distance metric. The pattern of the resulting kriging interpolations using KED and OK based on the adjusted distance metric were similar because they represented secondary data and, thus, enhanced small-scale variability compared to traditional distance OK. This created interpolations that agreed better with what is expected for the real-world spatial variation of the measured properties. Based on cross-validation error, OK interpolations using the adjusted distance metric better fit observed data than either OK interpolations using traditional distance or KED. © 2010 Taylor & Francis.
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| 12. |
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| 13. |
- Ried, Janina S., et al.
(författare)
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A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
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| 14. |
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| 15. |
- Skov, Vibe, et al.
(författare)
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A 7-gene signature depicts the biochemical profile of early prefibrotic myelofibrosis
- 2016
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 11:8
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Tidskriftsartikel (refereegranskat)abstract
- Recent studies have shown that a large proportion of patients classified as essential thrombocythemia (ET) actually have early primary prefibrotic myelofibrosis (prePMF), which implies an inferior prognosis as compared to patients being diagnosed with so-called genuine or true ET. According to theWorld Health Organization (WHO) 2008 classification, bone marrow histology is a major component in the distinction between these disease entities. However, the differential diagnosis between themmay be challenging and several studies have not been able to distinguish between them.Most lately, it has been argued that simple blood tests, including the leukocyte count and plasma lactate dehydrogenase (LDH) may be useful tools to separate genuine ET from prePMF, the latter disease entity more often being featured by anemia, leukocytosis and elevated LDH.Whole blood gene expression profiling was performed in 17 and 9 patients diagnosed with ET and PMF, respectively. Using elevated LDH obtained at the time of diagnosis as a marker of prePMF, a 7-gene signature was identified which correctly predicted the prePMF group with a sensitivity of 100%and a specificity of 89%. The 7 genes included MPO, CEACAM8, CRISP3, MS4A3, CEACAM6, HEMGN, andMMP8, which are genes known to be involved in inflammation, cell adhesion, differentiation and proliferation. Evaluation of bone marrow biopsies and the 7-gene signature showed a concordance rate of 71%, 79%, 62%, and 38%. Our 7-gene signature may be a useful tool to differentiate between genuine ET and prePMF but needs to be validated in a larger cohort of "ET" patients.
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| 16. |
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| 17. |
- Sörensen, Rasmus, et al.
(författare)
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Forest Harvest Increases Runoff Most during Low Flows in Two Boreal Streams
- 2009
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Ingår i: Ambio. - : Royal Swedish Academy of Sciences. - 0044-7447 .- 1654-7209. ; 38:7, s. 357-363
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- To understand how forest harvest influences the aquatic environment, it is essential to determine the changes in the flow regime. This paper presents changes in the hydrological regime during the first 2 y after harvest in two catchments of the Balsjo Catchment Study in Sweden. The changes were judged relative to a reference catchment, calibrated during an 18-mo pretreatment period starting in September 2004. From August 2006 through March 2008, there was an average of 35% more runoff from the harvested catchments relative to the reference. The flow increased most during the growing seasons and at base flows (< 1 mm d(-1); 58-99% increase), followed by dormant season and intermediate flows (30-43%). No significant changes were observed during the highest flows (over 5 mm d(-1)), except for the spring flood a few weeks after harvest, which was delayed and attenuated. Large relative changes in low flow may influence the ecosystem by altering the aquatic habitat
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| 18. |
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| 19. |
- Sörensen, Rasmus, et al.
(författare)
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On the calculation of the topographic wetness index: evaluation of different methods based on field observations.
- 2006
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Ingår i: Hydrology and Earth System Sciences. - 1027-5606 .- 1607-7938. ; 10:1, s. 101-112
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Tidskriftsartikel (refereegranskat)abstract
- The topographic wetness index (TWI, ln(a/tan beta)), which combines local upslope contributing area and slope, is commonly used to quantify topographic control on hydrological processes. Methods of computing this index differ primarily in the way the upslope contributing area is calculated. In this study we compared a number of calculation methods for TWI and evaluated them in terms of their correlation with the following measured variables: vascular plant species richness, soil pH, groundwater level, soil moisture, and a constructed wetness degree. The TWI was calculated by varying six parameters affecting the distribution of accumulated area among downslope cells and by varying the way the slope was calculated. All possible combinations of these parameters were calculated for two separate boreal forest sites in northern Sweden. We did not find a calculation method that performed best for all measured variables; rather the best methods seemed to be variable and site specific. However, we were able to identify some general characteristics of the best methods for different groups of measured variables. The results provide guiding principles for choosing the best method for estimating species richness, soil pH, groundwater level, and soil moisture by the TWI derived from digital elevation models.
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| 20. |
- Sörensen, Rasmus, et al.
(författare)
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The Effects of Forest Harvest Operations on Mercury and Methylmercury in Two Boreal Streams : Relatively Small Changes in the First Two Years prior to Site Preparation
- 2009
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Ingår i: Ambio. - : Royal Swedish Academy of Sciences. - 0044-7447 .- 1654-7209. ; 38:7, s. 364-372
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Tidskriftsartikel (refereegranskat)abstract
- Forest harvest is hypothesized to increase the mercury (Hg) load in aquatic ecosystems. The Balsjo paired catchment study examined the outputs of methylmercury (MeHg) and total mercury (Hg-tot) from two boreal catchments during the 2 y following forest harvest but prior to site preparation. This enabled us to separate the effect of the two operations that followed best management practices. Hg-tot concentrations increased by approximately 15%, and fluxes by 20-30%. The MeHg concentrations and fluxes either declined or increased by up to 60%, depending on whether annual MeHg peaks during summer low flows were considered to have been influenced by forest harvest. The lack of a severalfold increase in Hg outputs after forest harvest, as reported from other sites, may be the result of minimal soil disturbance during the winter forest harvest operations. If so, there may be a greater Hg response after soil scarification to prepare for planting
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| 21. |
- Thuesen, Anne Cathrine Baun, et al.
(författare)
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Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment
- 2023
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Ingår i: Molecular Genetics and Metabolism Reports. - : Elsevier BV. - 2214-4269. ; 35
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Tidskriftsartikel (refereegranskat)abstract
- Background: Functionally disruptive variants in the glucokinase gene (GCK) cause a form of mild non-progressive hyperglycemia, which does not require pharmacological treatment. A substantial proportion of patients with type 2 diabetes (T2D) carry GCK variants. We aimed to investigate whether carriers of rare GCK variants diagnosed with T2D have a glycemic phenotype and treatment response consistent with GCK-diabetes. Methods: Eight patients diagnosed with T2D from the Danish DD2 cohort who had previously undergone sequencing of GCK participated. Clinical examinations at baseline included an oral glucose tolerance test and continuous glucose monitoring. Carriers with a glycemic phenotype consistent with GCK-diabetes took part in a three-month treatment withdrawal. Results: Carriers of pathogenic and likely pathogenic variants had lower median fasting glucose and C-peptide levels compared to carriers of variants of uncertain significance and benign variants (median fasting glucose: 7.3 (interquartile range: 0.4) mmol/l vs. 9.5 (1.6) mmol/l, p = 0.04; median fasting C-peptide 902 (85) pmol/l vs. 1535 (295) pmol/l, p = 0.03). Four participants who discontinued metformin treatment and one diet-treated participant were reevaluated after three months. There was no deterioration of HbA1c or fasting glucose (median baseline HbA1c: 49 (3) vs. 51 (6) mmol/mol after three months, p = 0.4; median baseline fasting glucose: 7.3 (0.4) mmol/l vs. 7.0 (0.6) mmol/l after three months, p = 0.5). Participants did not consistently fulfill best practice guidelines for GCK screening nor clinical criteria for monogenic diabetes. Discussion: Carriers of pathogenic or likely pathogenic GCK variants identified by unselected screening in T2D should be reported, as they have a glycemic phenotype and treatment response consistent with GCK-diabetes. Variants of uncertain significance should be interpreted with care. Systematic genetic screening of patients with common T2D receiving routine care can lead to the identification and precise care of patients with misclassified GCK-diabetes who are not identifiable through common genetic screening criteria.
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