| 1. |
- Speliotes, Elizabeth K., et al.
(författare)
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Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
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| 2. |
- Bodin, Charlotte Rosenkrantz, et al.
(författare)
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Ultrasound in Prenatal Diagnostics and Its Impact on the Epidemiology of Spina Bifida in a National Cohort from Denmark with a Comparison to Sweden
- 2018
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Ingår i: BioMed Research International. - : Hindawi Limited. - 2314-6133 .- 2314-6141. ; 2018
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Tidskriftsartikel (refereegranskat)abstract
- Objectives. The aim of this study was to assess the incidence, the prenatal detection rate by ultrasound, and the pregnancy outcome of spina bifida (SB) in Denmark (DK) in 2008-2015 and to compare results to national data from Sweden. Methods. Data were retrieved from the Danish Fetal Medicine Database, which includes International Classification of Diseases-(ICD-) 10 codes for pre-or postnatally diagnoses and pregnancy outcome. Missing data were obtained from the National Patient Register. Livebirth data with myelomeningocele (MMC) in Sweden were obtained from different databases. Results. There were 234 cases with SB in DK in 2008-2015. The incidence of SB was 4.9: 10,000; 89% were detected with ultrasound prior to week 22; 90% of these pregnancies were terminated (ToP); 91% were isolated malformations of which 11% showed abnormal karyotype. The incidence of newborns with MMC was 1.3: 10,000 in Sweden. Conclusions. Ultrasound screening has a major impact on the epidemiology of SB. The prenatal detection rate of SB was high, and most SB cases were isolated and had a normal karyotype. Among women with a prenatal fetal diagnosis of SB, 90% chose to have ToP. The incidence of newborns with SB was higher in Sweden than in DK.
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| 3. |
- Broge, Nils Lau Nyborg, et al.
(författare)
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Exploration of anion effects in solvothermal synthesis using in situ X-ray diffraction
- 2024
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Ingår i: Physical Chemistry Chemical Physics. - 1463-9076. ; 26:15, s. 12121-12132
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Tidskriftsartikel (refereegranskat)abstract
- Solvothermal synthesis presents a facile and highly flexible approach to chemical processing and it is widely used for preparation of micro- and nanosized inorganic materials. The large number of synthesis parameters in combination with the richness of inorganic chemistry means that it is difficult to predict or design synthesis outcomes, and it is demanding to uncover the effect of different parameters due to the sealed and complex nature of solvothermal reactors along with the time demands related to reactor cleaning, sample purification, and characterization. This study explores the effect on formation of crystalline products of six common anions in solvothermal treatment of aqueous and ethanolic precursors. Three different cations are included in the study (Mn2+, Co2+, Cu2+) representing chemical affinities towards different regions of the periodic table with respect to the hard soft acid base (HSAB) classification and the Goldschmidt classification. They additionally belong to the commonly used 3d transition metals and display a suitable variety in solvothermal chemistry to highlight anion effects. The results of the solvothermal in situ experiments demonstrate a clear effect of the precursor anions, with respect to whether crystallization occurs or not and the characteristics of the formed phases. Additionally, some of the anions are shown to be redox active and to influence the formation temperature of certain phases which in turn relates to the observed average crystallite sizes.
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| 4. |
- Buchanan, James, et al.
(författare)
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Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey
- 2022
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Ingår i: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223. ; 42:7, s. 934-946
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Tidskriftsartikel (refereegranskat)abstract
- Objective We conducted a survey-based discrete-choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries. Methods Five test attributes were identified as being important for decision-making through a literature review, qualitative interviews and quantitative scoring exercise. Twelve scenarios were constructed in which respondents choose between two invasive tests or no test. Women from eight countries who delivered a baby in the previous 24 months completed a DCE presenting these scenarios. Choices were modeled using conditional logit regression analysis. Results Surveys from 1239 women (Australia: n = 178; China: n = 179; Denmark: n = 88; Netherlands: n = 177; Singapore: n = 90; Sweden: n = 178; UK: n = 174; USA: n = 175) were analyzed. The key attribute affecting preferences was a test with the highest diagnostic yield (p < 0.01). Women preferred tests with short turnaround times (p < 0.01), and tests reporting variants of uncertain significance (VUS; p < 0.01) and secondary findings (SFs; p < 0.01). Several country-specific differences were identified, including time to get a result, who explains the result, and the return of VUS and SFs. Conclusion Most women want maximum information from prenatal genomic tests, but our findings highlight country-based differences. Global consensus on how to return uncertain results is not necessarily realistic or desirable.
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| 5. |
- Enell, Sofia, et al.
(författare)
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Confinement and restrictive measures against young people in the Nordic countries : A comparative analysis of Denmark, Finland, Norway, and Sweden
- 2022
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Ingår i: Nordic journal of criminology. - : Taylor & Francis Group. - 2578-983X .- 2578-9821. ; 23:2, s. 174-191
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Tidskriftsartikel (refereegranskat)abstract
- This article reviews and compares the use of confinement and other restrictive measures against young people under 18 in child welfare and/or the criminal justice systems in Denmark, Sweden, Finland, and Norway. Young people are confined for a variety of reasons, including protection, care, treatment, and punishment. However, confinement of young people is a contested issue because it can beviewed as necessary but also potentially harmful. Comparison of legislation and practices reveals that while there are some similarities in the service provisions for young people, there are also significant disparities among the four countries regarding the organization, function, and frequency of the use of confinement and restrictive measures. While Denmark and Sweden use secure welfare institutions, Finland and Norway apply other restrictive measures. Despite the differences in approaches to confinement in the Nordic countries, the use of confinement is guided by the principle of the child’s best interest, and the child welfare system is the main frame for confinement and intervention. The article discusses these disparate practices from the perspective of children’s rights and identifies new avenues for research and practice.
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| 6. |
- Gadsbøll, Kasper, et al.
(författare)
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Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation.
- 2020
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Ingår i: Acta obstetricia et gynecologica Scandinavica. - : Wiley. - 1600-0412 .- 0001-6349. ; 99:6, s. 722-730
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Tidskriftsartikel (refereegranskat)abstract
- Noninvasive prenatal testing (NIPT), using cell-free fetal DNA, has increasingly been adopted as a screening tool for fetal aneuploidies. Several studies have discussed benefits and limitations of NIPT compared to both ultrasound and invasive procedures, but in spite of some shortcomings NIPT has become extensively used within the last five years. This study aims to describe the current use of NIPT in Europe, Australia and the USA.We conducted a survey to describe the current use of NIPT. Colleagues filled in a simple email-based questionnaire on NIPT in their own country, providing information on: 1) Access to NIPT, 2) NIPT's chromosomal coverage, 3) financial coverage of NIPT for the patient and 4) the proportion of women using NIPT in pregnancy. Some data are best clinical estimates, due to a lack of national data.In Europe, 14 countries have adopted NIPT into a national policy/program. Two countries (Belgium and the Netherlands) offer NIPT for all pregnant women, whereas most other European countries have implemented NIPT as an offer for higher risk women after first trimester screening. In Australia, either Combined First Trimester Screening (cFTS) or NIPT are used as primary prenatal screening tests. In the USA, there are no national consensus policies on the use of NIPT, however, NIPT is widely implemented. In most European countries offering NIPT, the proportion of women using NIPT is well below 25%. In the Netherlands, Austria, Italy, Spain and most Australian and American States, 25-50% of women have NIPT performed and only in Belgium it is above 75%. In most countries NIPT reports on trisomy 13, 18 and 21, and often also on sex chromosome aneuploidies. Only in Belgium, the Netherlands, Lithuania, Greece, Cyprus and Italy is NIPT offered predominantly as a genome-wide test (including some microdeletions or a whole genome coverage).NIPT has been widely adopted throughout Europe, Australia and the USA, but only some countries/states have a national policy on the use of NIPT. The variation in NIPT utilization is considerable.
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| 7. |
- Hellem, Marie N.N., et al.
(författare)
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Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patients
- 2022
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Ingår i: Parkinsonism and Related Disorders. - : Elsevier BV. - 1353-8020. ; 99, s. 23-29
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Huntington's disease (HD) is an inherited neurodegenerative disease with motor, cognitive and psychiatric symptoms. Non-motor symptoms like depression and altered social cognition are proposed to be caused by dysfunction of the hypothalamus. We measured the hypothalamic neuropeptide oxytocin in plasma and cerebrospinal fluid (CSF) in a cohort of HD gene expansion carriers (HDGECs), compared the levels to healthy HD family controls and correlated oxytocin levels to disease progression and social cognition. Methods: We recruited 113 HDGECs and 33 controls. Psychiatric and cognitive symptoms were evaluated, and social cognition was assessed with the Emotion Hexagon test, Reading the Mind in the Eyes and The Awareness of Social Inference Test. The levels of oxytocin in CSF and blood were analyzed by radioimmunoassay. Results: We found the level of oxytocin in CSF to be significantly lower by 33.5% in HDGECs compared to controls (p = 0.016). When dividing the HDGECs into groups with or without cognitive impairment, we found the oxytocin level to be significantly lower by 30.3% in the HDGECs with cognitive symptoms (p = 0.046). We found a statistically significant correlation between the level of oxytocin and scores on social cognition (Reading the Mind in the Eyes p = 0.0019; Emotion Hexagon test: p = 0.0062; The Awareness of Social Inference Test: p = 0.002). Conclusions: This is the first study to measure oxytocin in the CSF of HDGECs. We find that HDGECs have a significantly lower level of oxytocin compared to controls, and that the level of oxytocin may represent an objective and comparable measure that could be used as a state biomarker for impairment of social cognition. We suggest treatment trials to evaluate a potential effect of oxytocin on social cognition in HD.
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| 8. |
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| 9. |
- Järlskog, Ida, 1991, et al.
(författare)
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Concentrations of tire wear microplastics and other traffic-derived non-exhaust particles in the road environment
- 2022
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Ingår i: Environment International. - : Elsevier BV. - 0160-4120 .- 1873-6750. ; 170
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Tidskriftsartikel (refereegranskat)abstract
- Tire wear particles (TWP) are assumed to be one of the major sources of microplastic pollution to the environment. However, many of the previously published studies are based on theoretical estimations rather than field measurements. To increase the knowledge regarding actual environmental concentrations, samples were collected and analyzed from different matrices in a rural highway environment to characterize and quantify TWP and other traffic-derived non-exhaust particles. The sampled matrices included road dust (from kerb and in-between wheeltracks), runoff (water and sediment), and air. In addition, airborne deposition was determined in a transect with increasing distance from the road. Two sieved size fractions (2–20 µm and 20–125 µm) were analyzed by automated Scanning Electron Microscopy/Energy Dispersive X-ray spectroscopy (SEM/EDX) single particle analysis and classified with a machine learning algorithm into the following subclasses: TWP, bitumen wear particles (BiWP), road markings, reflecting glass beads, metals, minerals, and biogenic/organic particles. The relative particle number concentrations (%) showed that the runoff contained the highest proportion of TWP (up to 38 %). The share of TWP in kerb samples tended to be higher than BiWP. However, a seasonal increase of BiWP was observed in coarse (20–125 µm) kerb samples during winter, most likely reflecting studded tire use. The concentration of the particle subclasses within airborne PM80-1 decreases with increasing distance from the road, evidencing road traffic as the main emission source. The results confirm that road dust and the surrounding environment contain traffic-derived microplastics in both size fractions. The finer fraction (2–20 µm) dominated (by mass, volume, and number) in all sample matrices. These particles have a high potential to be transported in water and air far away from the source and can contribute to the inhalable particle fraction (PM10) in air. This highlights the importance of including also finer particle fractions in future investigations.
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| 10. |
- Järlskog, Ida, 1991-, et al.
(författare)
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Differentiating and Quantifying Carbonaceous (Tire, Bitumen, and Road Marking Wear) and Non-carbonaceous (Metals, Minerals, and Glass Beads) Non-exhaust Particles in Road Dust Samples from a Traffic Environment
- 2022
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Ingår i: Water, Air and Soil Pollution. - : Springer. - 0049-6979 .- 1573-2932. ; 233:9
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Tidskriftsartikel (refereegranskat)abstract
- Tires, bitumen, and road markings are important sources of traffic-derived carbonaceous wear particles and microplastic (MP) pollution. In this study, we further developed a machine-learning algorithm coupled to an automated scanning electron microscopy/energy dispersive X-ray spectroscopy (SEM/EDX) analytical approach to classify and quantify the relative number of the following subclasses contained in environmental road dust: tire wear particles (TWP), bitumen wear particles (BiWP), road markings, reflecting glass beads, metallics, minerals, and biogenic/organics. The method is non-destructive, rapid, repeatable, and enables information about the size, shape, and elemental composition of particles 2-125 mu m. The results showed that the method enabled differentiation between TWP and BiWP for particles > 20 mu m with satisfying results. Furthermore, the relative number concentration of the subclasses was similar in both analyzed size fractions (2-20 mu m and 20-125 mu m), with minerals as the most dominant subclass (2-20 mu m x = 78%, 20-125 mu m x = 74%) followed by tire and bitumen wear particles, TBiWP, (2-20 mu m x = 19%, 20-125 mu m x = 22%). Road marking wear, glass beads, and metal wear contributed to x = 1%, x = 0.1%, and x = 1% in the 2-20-mu m fraction and to x = 0.5%, x = 0.2%, and x = 0.4% in the 20-125-mu m fraction. The present results show that road dust appreciably consists of TWP and BiWP within both the coarse and the fine size fraction. The study delivers quantitative evidence of the importance of tires, bitumen, road marking, and glass beads besides minerals and metals to wear particles and MP pollution in traffic environments based on environmental (real-world) samples
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