| 1. |
- Gehlen, J., et al.
(författare)
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First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
- 2022
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Ingår i: Human Genetics and Genomics Advances. - : Elsevier BV. - 2666-2477. ; 3:2
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Tidskriftsartikel (refereegranskat)abstract
- Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene CTNNA3 (p = 2.11 × 10−8; odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10–5.00), on chromosome 16q24 next to the FOX gene cluster (p = 2.25 × 10−10; OR = 1.47; 95% CI, 1.38–1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 × 10−16; OR = 1.75; 95% CI, 1.64–1.87). We next carried out an esophageal/tracheal transcriptome profiling in rat embryos at four selected embryonic time points. Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. We also analyzed the genetic EA/TEF architecture beyond the single marker level, which revealed an estimated single-nucleotide polymorphism (SNP)-based heritability of around 37% ± 14% standard deviation. In addition, we examined the polygenicity of EA/TEF and found that EA/TEF is less polygenic than other complex genetic diseases. In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes. © 2022 The Authors
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| 2. |
- Glasius, M., et al.
(författare)
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Composition and sources of carbonaceous aerosols in Northern Europe during winter
- 2018
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Ingår i: Atmospheric Environment. - : Elsevier BV. - 1873-2844 .- 1352-2310. ; 173, s. 127-141
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Tidskriftsartikel (refereegranskat)abstract
- Sources of elemental carbon (EC) and organic carbon (OC) in atmospheric aerosols (carbonaceous aerosols) were investigated by collection of weekly aerosol filter samples at six background sites in Northern Europe (Birkenes, Norway; Vavihill, Sweden; Risoe, Denmark; Cabauw and Rotterdam in The Netherlands; Melpitz, Germany) during winter 2013. Analysis of 14 C and a set of molecular tracers were used to constrain the sources of EC and OC. During the four-week campaign, most sites (in particular those in Germany and The Netherlands) were affected by an episode during the first two weeks with high concentrations of aerosol, as continental air masses were transported westward. The analysis results showed a clear, increasing north to south gradient for most molecular tracers. Total carbon (TC = OC + EC) at Birkenes showed an average concentration of 0.5 ± 0.3 μg C m −3 , whereas the average concentration at Melpitz was 6.0 ± 4.3 μg C m −3 . One weekly mean TC concentration as high as 11 μg C m −3 was observed at Melpitz. Average levoglucosan concentrations varied by an order of magnitude from 25 ± 13 ng m −3 (Birkenes) to 249 ± 13 ng m −3 (Melpitz), while concentrations of tracers of fungal spores (arabitol and mannitol) and vegetative debris (cellulose) were very low, showing a minor influence of primary biological aerosol particles during the North European winter. The fraction of modern carbon generally varied from 0.57 (Melpitz) to 0.91 (Birkenes), showing an opposite trend compared to the molecular tracers and TC. Total concentrations of 10 biogenic and anthropogenic carboxylic acids, mainly of secondary origin, were 4–53 ng m −3 , with the lowest concentrations observed at Birkenes and the highest at Melpitz. However, the highest relative concentrations of carboxylic acids (normalized to TC) were observed at the most northern sites. Levels of organosulphates and nitrooxy organosulphates varied more than two orders of magnitude, from 2 to 414 ng m −3 , between individual sites and samples. The three sites Melpitz, Rotterdam and Cabauw, located closest to source regions in continental Europe, showed very high levels of organosulphates and nitrooxy organosulphates (up to 414 ng m −3 ) during the first two weeks of the study, while low levels ( < 7 ng m −3 ) were found at all sites except Melpitz during the last week. The large variation in organosulphate levels probably reflects differences in the presence of acidic sulphate aerosols, known from laboratory studies to accelerate the formation of these compounds. On average, the ratio of organic sulphate to inorganic sulphate was 1.5 ± 1.0% (range 0.1–3.4%). Latin-hypercube source apportionment techniques identified biomass burning as the major source of OC for all samples at all sites (typically > 40% of TC), while use and combustion of fossil fuels was the second most important source. Furthermore, EC from biomass burning accounted for 7–16% of TC, whereas EC from fossil sources contributed to < 2–23% of TC, of which the highest percentages were observed for low-concentration aerosol samples. Unresolved non-fossil sources (such as cooking and biogenic secondary organic aerosols) did not account for more than 5–12% of TC. The results confirm that wood combustion is a major source to OC and EC in Northern Europe during winter.
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| 3. |
- Cornelissen, Johannes H C, et al.
(författare)
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Global negative vegetation feedback to climate warming responses of leaf litter decomposition rates in cold biomes
- 2007
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Ingår i: Ecology Letters. - : Wiley. - 1461-023X .- 1461-0248. ; 10:7, s. 619-627
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Tidskriftsartikel (refereegranskat)abstract
- Whether climate change will turn cold biomes from large long-term carbon sinks into sources is hotly debated because of the great potential for ecosystem-mediated feedbacks to global climate. Critical are the direction, magnitude and generality of climate responses of plant litter decomposition. Here, we present the first quantitative analysis of the major climate-change-related drivers of litter decomposition rates in cold northern biomes worldwide.Leaf litters collected from the predominant species in 33 global change manipulation experiments in circum-arctic-alpine ecosystems were incubated simultaneously in two contrasting arctic life zones. We demonstrate that longer-term, large-scale changes to leaf litter decomposition will be driven primarily by both direct warming effects and concomitant shifts in plant growth form composition, with a much smaller role for changes in litter quality within species. Specifically, the ongoing warming-induced expansion of shrubs with recalcitrant leaf litter across cold biomes would constitute a negative feedback to global warming. Depending on the strength of other (previously reported) positive feedbacks of shrub expansion on soil carbon turnover, this may partly counteract direct warming enhancement of litter decomposition.
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| 4. |
- Stenström, P, et al.
(författare)
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Total colonic aganglionosis: multicentre study of surgical treatment and patient-reported outcomes up to adulthood.
- 2020
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Ingår i: BJS open. - 2474-9842. ; 4:5, s. 943-953
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Tidskriftsartikel (refereegranskat)abstract
- Surgery for total colonic aganglionosis (TCA) is designed to preserve continence and achieve satisfactory quality of life. This study evaluated a comprehensive group of clinical and social outcomes.An international multicentre study from eight Nordic hospitals involving examination of case records and a patient-reported questionnaire survey of all patients born with TCA between 1987 and 2006 was undertaken.Of a total of 116 patients, five (4·3 per cent) had died and 102 were traced. Over a median follow-up of 12 (range 0·3-33) years, bowel continuity was established in 75 (73·5 per cent) at a median age of 11 (0·5-156) months. Mucosectomy with a short muscular cuff and straight ileoanal anastomosis (SIAA) (29 patients) or with a J pouch (JIAA) (26) were the most common reconstructions (55 of 72, 76 per cent). Major early postoperative complications requiring surgical intervention were observed in four (6 per cent) of the 72 patients. In 57 children aged over 4 years, long-term functional bowel symptoms after reconstruction included difficulties in holding back defaecation in 22 (39 per cent), more than one faecal accident per week in nine (16 per cent), increased frequency of defaecation in 51 (89 per cent), and social restrictions due to bowel symptoms in 35 (61 per cent). Enterocolitis occurred in 35 (47 per cent) of 72 patients. Supplementary enteral and/or parenteral nutrition was required by 51 (55 per cent) of 93 patients at any time during follow-up. Of 56 responders aged 2-20 years, true low BMI for age was found in 20 (36 per cent) and 13 (23 per cent) were short for age.Reconstruction for TCA was associated with persistent bowel symptoms, and enterocolitis remained common. Multidisciplinary follow-up, including continuity of care in adulthood, might improve care standards in patients with TCA.
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| 5. |
- Yttri, K. E., et al.
(författare)
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Source apportionment of the summer time carbonaceous aerosol at Nordic rural background sites
- 2011
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Ingår i: Atmospheric Chemistry and Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 11:24, s. 13339-13357
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Tidskriftsartikel (refereegranskat)abstract
- In the present study, natural and anthropogenic sources of particulate organic carbon (OCp) and elemental carbon (EC) have been quantified based on weekly filter samples of PM10 (particles with aerodynamic diameter
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| 6. |
- Deogan, Charlotte, et al.
(författare)
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Cost-Effectiveness of School-Based Prevention of Cannabis Use
- 2015
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Ingår i: Applied Health Economics and Health Policy. - : Springer Science and Business Media LLC. - 1175-5652 .- 1179-1896. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- Background: Cannabis is the most frequently used illicit drug globally. Despite increasing evidence that cannabis use is associated with adverse health effects, the knowledge on preventative strategies is still limited. This study stemmed from a systematic review of effective prevention in which school-based programmes were identified as promising. The primary objective was to evaluate the cost effectiveness of Project ALERT (Adolescent, Learning, Experiences, Resistance, and Training), compared with ordinary ATOD (Alcohol, Tobacco, and Other Drug) education, among Swedish students in the eighth grade of compulsory school.Methods: The cost-effectiveness analysis was performed from the societal perspective with quality-adjusted lifeyears (QALYs) as an outcome (willingness-to-pay threshold €50,000) and follow-up periods from 1 year to a lifetime, considering a discounting rate of 3 %, and with costs inflated to 2013 levels. A Markov model was constructed on the basis of the ‘states’ of single use, regular use, daily use and use of other illicit drugs, which were associated with ‘complications’ of psychosis, schizophrenia, traffic accidents, depression and amotivational syndrome. Health and cost consequences were linked to both states and complications.Results: The programme was cost saving on the basis of evidence from the USA (ratio 1:1.1), and was cost effective (incremental cost-effectiveness ratio €22,384 per QALY) after reasonable adjustment for the Swedish context and with 20 years of follow-up. When the target group was restricted to boys who were neither studying nor working/doing work experience, the programme was cost effective after 9 years and cost saving (ratio 1:3.2) after 20 years.Conclusion: School-based prevention such as Project ALERT has the potential to be cost effective and to be cost saving if implemented in deprived areas. In the light of the shifting landscape regarding legalization of cannabis, it seems rational to continue the health economic analysis of prevention initiated here.
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| 7. |
- Granéli, C., et al.
(författare)
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Urinary tract anomalies and urinary tract dysfunction in children with Hirschsprung disease—Is follow-up indicated?
- 2019
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Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468. ; 54:10, s. 2012-2016
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Tidskriftsartikel (refereegranskat)abstract
- Background/Purpose: Urinary tract function in children with Hirschsprung disease (HD) is rarely considered. Aim: to evaluate the prevalence of urinary tract anomalies and dysfunction in children with HD compared to controls. Methods: This was an observational cross sectional case–control study. Children with HD who underwent transanal endorectal pull-through technique (TERPT) from 2005 to 2017 were invited to participate. Ultrasound of the urinary tract was performed postoperatively. Children > 4 years were asked to answer a urinary tract function questionnaire. Controls were age-matched healthy children. Ethical approval was obtained. Results: Seventy two children with HD and TERPT were included. Ultrasound was performed in 58 children (83%) post-TERPT. Ten anomalies were diagnosed in six children (10%). Structural anomalies included abnormal kidney size (7%), renal agenesis (2%), prominent calyces (2%) and renal pelvis anomaly (25). Probable acquired anomalies included hydronephrosis (2%), hydroureter (2%) and parenchymal damage (2%). One child had a prior nephrectomy owing to a Wilms’ tumor. All 37 children > 4 years (27 boys and 10 girls), median aged 8 years (range 4–12), answered the questionnaire as did 284 healthy controls (144 boys and 140 girls). Boys with HD reported a higher frequency of enuresis: 65% versus 9% (p = 0.001) and urinary tract infections: 18% versus 3% (p = 0.012). Girls with HD reported enuresis more frequently (60%) than healthy girls (7%) (p = 0.001). Children with HD with constipation reported enuresis more frequently (p = 0.038). Conclusions: Urinary tract anomalies and dysfunction deserve attention in the follow-up of children with HD. We suggest screening for urinary tract anomalies and urinary tract symptoms in follow-up of children with HD. Type of study: Treatment study. Level: III.
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| 8. |
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| 9. |
- Pédehontaa-Hiaa, G., et al.
(författare)
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Tritium in urine from members of the general public and occupationally exposed workers in Lund, Sweden, prior to operation of the European Spallation Source
- 2020
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Ingår i: Journal of Environmental Radioactivity. - : Elsevier BV. - 0265-931X. ; 213
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Tidskriftsartikel (refereegranskat)abstract
- A powerful neutron source, the European Spallation Source (ESS), is currently under construction in Lund, Sweden (~90 000 inhabitants). Levels of tritium (3H) in urine were estimated in members of the public in Lund and employees at the ESS using liquid scintillation counting, to obtain baseline levels before the start of operation of the ESS. These were compared with levels in other occupationally exposed radiation workers. Both the spallation reaction in the ESS tungsten target and the activation of various materials by the protons produced by the 5 MW linear accelerator will generate tritium, which will be released into the atmosphere mainly as tritiated water (HTO). Urinary HTO activity concentrations were determined in a total of 55 individuals belonging to four different categories: ESS employees, neighbours of the ESS, members of the general public in Lund and exposed workers from other facilities. The participants were asked to provide information on their beverage intake the day before urine sampling. The urine samples were filtered on activated charcoal and distilled before analysis. The effect of sample preparation on the isotope fractionation of urine samples was investigated by isotope ratio mass spectrometry (IRMS) of 2H/1H, which showed no influence. IRMS was also used to investigate if the ratio between the stable hydrogen isotopes (2H/1H) could provide useful data of the origin, and hence the tritium concentration, of various types of drinking water. Urinary HTO activity concentrations determined using liquid scintillation counting (LSC) were found to be below the minimum detectable activity (MDA) of 2.1 Bq⋅L−1 for most of the participants. Five of the workers actively handling organic tritiated material were found to have activity concentrations between 3.5 and 11 Bq⋅L−1, which were higher than the average value in local tap water of 1.5 ± 0.6 Bq⋅L−1. The results will be used to evaluate the radiological impact on the population from future releases of tritium resulting from the operation of the ESS.
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| 10. |
- Szidat, S., et al.
(författare)
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Intercomparison of 14C Analysis of Carbonaceous Aerosols : Exercise 2009
- 2013
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Ingår i: Radiocarbon. - : Cambridge University Press (CUP). - 0033-8222 .- 1945-5755. ; 55:2-3, s. 1496-1509
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Tidskriftsartikel (refereegranskat)abstract
- Radiocarbon analysis of the carbonaceous aerosol allows an apportionment of fossil and non-fossil sources of airborne particulate matter (PM). A chemical separation of total carbon (TC) into its subfractions organic carbon (OC) and elemental carbon (EC) refines this powerful technique, as OC and EC originate from different sources and undergo different processes in the atmosphere. Although C-14 analysis of TC, EC, and OC has recently gained increasing attention, interlaboratory quality assurance measures have largely been missing, especially for the isolation of EC and OC. In this work, we present results from an intercomparison of 9 laboratories for C-14 analysis of carbonaceous aerosol samples on quartz fiber filters. Two ambient PM samples and 1 reference material (RM 8785) were provided with representative filter blanks. All laboratories performed C-14 determinations of TC and a subset of isolated EC and OC for isotopic measurement. In general, C-14 measurements of TC and OC agreed acceptably well between the laboratories, i.e. for TC within 0.015-0.025 (FC)-C-14 for the ambient filters and within 0.041 (FC)-C-14 for RM 8785. Due to inhomogeneous filter loading, RM 8785 demonstrated only limited applicability as a reference material for C-14 analysis of carbonaceous aerosols. C-14 analysis of EC revealed a large deviation between the laboratories of 28-79% as a consequence of different separation techniques. This result indicates a need for further discussion on optimal methods of EC isolation for C-14 analysis and a second stage of this intercomparison.
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