| 1. |
- Aalykke, Marianne, et al.
(author)
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Participants and Non-participants in the Scand-Ankle study - An alcohol cessation intervention at the time of fracture surgery
- 2015
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In: Clinical Health Promotion. - 2226-5864. ; 5:2, s. 49-53
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Journal article (peer-reviewed)abstract
- Background Clinical experience indicates that patients declining participation in randomised clinical trials (RCTs) at the time of surgery are older, less healthy and of lower social status than patients accepting to participate, compromising the external validity of the RCT and bringing the non-participants in higher risk at surgery. To our knowledge, no studies exist on patients with hazardous alcohol consumption who decline participation in RCTs at the time of surgery. The aim was to compare characteristics of the participants and non-participants in the Scand-Ankle RCT. Method The Scand-Ankle study is a RCT that investigates the effect of a 6-week gold standard alcohol intervention (GSP-A) on postoperative complications in patients drinking >21 units/week and undergoing ankle fracture surgery. This study included eligible patients that declined to participate in the Scand-Ankle RCT but gave informed consent to follow-up in their medical record (N=67). Their perioperative patient characteristics were obtained from their medical record and the characteristics were compared to the patients enrolled in the study so far (N=61). Results The baseline characteristics showed no differences between participants and non-participants, but some tendencies towards the non-participants being older, having severak co-morbidities and higher ASA scores. None of the variables of interest in relation to postoperative complications (age over 70 years, comorbidity, daily smoking, ASA scores, fracture type, BMI, alcohol) were significant predictors for non-participation. Conclusion No differences were found between participants and non-participants and no patient characteristics could significantly predict participation.
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| 2. |
- Christiansen, Mia Nielsen, et al.
(author)
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Prevalence of heart failure and other risk factors among first-degree relatives of women with peripartum cardiomyopathy
- 2019
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In: Heart. - : BMJ. - 1355-6037 .- 1468-201X. ; 105:14, s. 1057-1062
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Journal article (peer-reviewed)abstract
- Objectives: Peripartum cardiomyopathy (PPCM) is a rare disease carrying a risk of death and chronic heart failure.It is unknown if women with PPCM have a family history of heart failure. We investigated the prevalence of heart failure and hypertension in first-degree relatives to women with PPCM. Methods: A cohort of 61 women with PPCM was identified through the nationwide Danish registers from 2005 to 2014, and each individual diagnosis of PPCM was validated through review of patient records. We excluded 13 women due to lack of data on relatives. In a case-control design, the 48 remaining women were matched (on age, year of childbirth, parity and number of siblings) to 477 birth-giving Danish women without heart failure. We obtained information on first-degree relatives (parents and siblings) through the National Danish Registers. Results: The cohort of 48 women with PPCM had a mean age of 31 years (SD 6). The prevalence of heart failure in any first-degree relative was higher in women with PPCM, compared with controls (23% vs 10%, p=0.011). A first-degree relative with any cardiovascular diagnosis was not more frequent in women with PPCM versus controls (77% vs 70%, p=0.280), but for siblings only, any cardiovascular diagnosis was more frequent in siblings to women with PPCM (29% vs 16%, p=0.026). Conclusion: Having a first-degree relative with heart failure was significantly more frequent in a cohort of validated PPCM cases than in controls, supporting the notion of shared aetiology between PPCM and other forms of heart failure.
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| 3. |
- Jacobsen, Carsten Suhr, et al.
(author)
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Inter-laboratory testing of the effect of DNA blocking reagent G2 on DNA extraction from low-biomass clay samples
- 2018
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In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 8
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Journal article (peer-reviewed)abstract
- Here we show that a commercial blocking reagent (G2) based on modified eukaryotic DNA significantly improved DNA extraction efficiency. We subjected G2 to an inter-laboratory testing, where DNA was extracted from the same clay subsoil using the same batch of kits. The inter-laboratory extraction campaign revealed large variation among the participating laboratories, but the reagent increased the number of PCR-amplified16S rRNA genes recovered from biomass naturally present in the soils by one log unit. An extensive sequencing approach demonstrated that the blocking reagent was free of contaminating DNA, and may therefore also be used in metagenomics studies that require direct sequencing.
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| 4. |
- Johansson, Maria, et al.
(author)
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Understanding a housing cooperatives' reasons for rejecting energy-efficient outdoor lighting
- 2015
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In: Lighting Research and Technology. - : SAGE Publications. - 1477-1535 .- 1477-0938. ; 47:7, s. 876-892
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Journal article (peer-reviewed)abstract
- Interviews with board members and surveys of residents in a Swedish housing cooperative revealed that their choice to partly reject new energy-efficient outdoor lighting for their outdoor environment (retrofit with light emitting diods) was motivated by multiple goal frames. The board weighed the normative goal of perceived safety and the subordinate hedonic goal of the perceived quality of the light against gain goals. The final choice could be attributed to the normative goal of perceived safety for the elderly. This was consistent with the view of the residents who rated all goal frames high, but perceived safety as the most important. Adoption or rejection of new energy-efficient lighting technology is determined by both cost and energy savings, and people's expectations and perceptions of the light and the lit environment.
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| 5. |
- Kehoe, Laura, et al.
(author)
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Make EU trade with Brazil sustainable
- 2019
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In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
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Journal article (other academic/artistic)
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| 6. |
- Marouli, Eirini, et al.
(author)
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Rare and low-frequency coding variants alter human adult height
- 2017
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 542:7640, s. 186-190
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Journal article (peer-reviewed)abstract
- Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.
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| 7. |
- Martin, Joanna, et al.
(author)
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A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder
- 2018
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In: Biological Psychiatry. - : Elsevier. - 0006-3223 .- 1873-2402. ; 83:12, s. 1044-1053
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Journal article (peer-reviewed)abstract
- BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is two to seven times more common in male individuals than in female individuals. We examined two putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity and higher burden of risk in female cases.METHODS: We analyzed genome-wide autosomal common variants from the Psychiatric Genomics Consortium and iPSYCH Project (n = 20,183 cases, n = 35,191 controls) and Swedish population register data (n = 77,905 cases, n = 1,874,637 population controls).RESULTS: Genetic correlation analyses using two methods suggested near complete sharing of common variant effects across sexes, with r(g) estimates close to 1. Analyses of population data, however, indicated that female individuals with ADHD may be at especially high risk for certain comorbid developmental conditions (i.e., autism spectrum disorder and congenital malformations), potentially indicating some clinical and etiological heterogeneity. Polygenic risk score analysis did not support a higher burden of ADHD common risk variants in female cases (odds ratio [confidence interval] = 1.02 [0.98-1.06], p = .28). In contrast, epidemiological sibling analyses revealed that the siblings of female individuals with ADHD are at higher familial risk for ADHD than the siblings of affected male individuals (odds ratio [confidence interval] = 1.14 [1.11-1.18], p = 1.5E-15).CONCLUSIONS: Overall, this study supports a greater familial burden of risk in female individuals with ADHD and some clinical and etiological heterogeneity, based on epidemiological analyses. However, molecular genetic analyses suggest that autosomal common variants largely do not explain the sex bias in ADHD prevalence.
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| 8. |
- Pedersen, Nancy L., et al.
(author)
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IGEMS : The Consortium on Interplay of Genes and Environment Across Multiple Studies - An Update
- 2019
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In: Twin Research and Human Genetics. - : Cambridge University Press. - 1832-4274 .- 1839-2628. ; 22:6, s. 809-816
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Journal article (peer-reviewed)abstract
- The Interplay of Genes and Environment across Multiple Studies (IGEMS) is a consortium of 18 twin studies from 5 different countries (Sweden, Denmark, Finland, United States, and Australia) established to explore the nature of gene-environment (GE) interplay in functioning across the adult lifespan. Fifteen of the studies are longitudinal, with follow-up as long as 59 years after baseline. The combined data from over 76,000 participants aged 14-103 at intake (including over 10,000 monozygotic and over 17,000 dizygotic twin pairs) support two primary research emphases: (1) investigation of models of GE interplay of early life adversity, and social factors at micro and macro environmental levels and with diverse outcomes, including mortality, physical functioning and psychological functioning; and (2) improved understanding of risk and protective factors for dementia by incorporating unmeasured and measured genetic factors with a wide range of exposures measured in young adulthood, midlife and later life.
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| 9. |
- Quelever, Lauriane L.J., et al.
(author)
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Effect of temperature on the formation of highly oxygenated organic molecules (HOMs) from alpha-pinene ozonolysis
- 2019
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In: Atmospheric Chemistry and Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 19:11, s. 7609-7625
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Journal article (peer-reviewed)abstract
- Highly oxygenated organic molecules (HOMs) are important contributors to secondary organic aerosol (SOA) and new-particle formation (NPF) in the boreal atmosphere. This newly discovered class of molecules is efficiently formed from atmospheric oxidation of biogenic volatile organic compounds (VOCs), such as monoterpenes, through a process called autoxidation. This process, in which peroxy-radical intermediates isomerize to allow addition of molecular oxygen, is expected to be highly temperature-dependent. Here, we studied the dynamics of HOM formation during α-pinene ozonolysis experiments performed at three different temperatures, 20, 0 and -15 ĝC, in the Aarhus University Research on Aerosol (AURA) chamber. We found that the HOM formation, under our experimental conditions (50 ppb α-pinene and 100 ppb ozone), decreased considerably at lower temperature, with molar yields dropping by around a factor of 50 when experiments were performed at 0 ĝC, compared to 20 ĝC. At -15 ĝC, the HOM signals were already close to the detection limit of the nitrate-based chemical ionization atmospheric pressure interface time-of-flight (CI-APi-TOF) mass spectrometer used for measuring gas-phase HOMs. Surprisingly, comparing spectra measured at 0 and 20 ĝC, ratios between HOMs of different oxidation levels, e.g., the typical HOM products C10H14O7, C10H14O9, and C10H14O11, changed considerably less than the total HOM yields. More oxidized species have undergone more isomerization steps; yet, at lower temperature, they did not decrease more than the less oxidized species. One possible explanation is that the primary rate-limiting steps forming these HOMs occur before the products become oxygenated enough to be detected by our CI-APi-TOF (i.e., typically seven or more oxygen atoms). The strong temperature dependence of HOM formation was observed under temperatures highly relevant to the boreal forest, but the exact magnitude of this effect in the atmosphere will be much more complex: the fate of peroxy radicals is a competition between autoxidation (influenced by temperature and VOC type) and bimolecular termination pathways (influenced mainly by concentration of reaction partners). While the temperature influence is likely smaller in the boreal atmosphere than in our chamber, both the magnitude and complexity of this effect clearly deserve more consideration in future studies in order to estimate the ultimate role of HOMs on SOA and NPF under different atmospheric conditions.
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| 10. |
- Schmitt, Julien, et al.
(author)
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In situ SAXS investigation of dual ordered mesoporous materials formation.
- 2015
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In: ChemPhysChem. - : Wiley. - 1439-7641 .- 1439-4235. ; 16:17, s. 3637-3641
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Journal article (peer-reviewed)abstract
- The formation of two-dimensional (2D)-hexagonal (p6m) silica-based hybrid material with a dual-mesoporosity is investigated in situ using synchrotron time-resolved Small Angle X-ray Scattering (SAXS). The material is synthesized from a mixed micellar solution of a nonionic fluorinated surfactant, RF₈(EO)₉, and a nonionic triblock copolymer, P123. Both mesoporosities, with pores dimensions at 3.3 and 8.5 nm respectively, are seen by Nitrogen sorption, TEM and SAXS. The in situ SAXS experiments reveal a mesophase formation in two steps. First the nucleation and growth of a primary 2D-hexagonal network (N1) associated to mixed micelles containing P123, then followed by the formation of the second network (N2) associated to micelles of pure RF₈(EO)₉. The data obtained from SAXS and TEM suggest that N1 is used as nucleation centers for the formation of N2, that would result in the formation of a grain with both mesoporosities. Understanding the formation mechanism of such material is an important step towards the synthesis of more complex materials with a fine tuning of the porosity.
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| 11. |
- Schmitt, Julien, et al.
(author)
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Outset of the Morphology of Nanostructured Silica Particles during Nucleation Followed by Ultrasmall-Angle X-ray Scattering
- 2016
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In: Langmuir. - : American Chemical Society (ACS). - 0743-7463 .- 1520-5827. ; 32:20, s. 5162-5172
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Journal article (peer-reviewed)abstract
- Nucleation and growth of SBA-15 silica nanostructured particles with well-defined morphologies has been followed with time by small-angle X-ray scattering (SAXS) and ultrasmall-angle X-ray scattering (USAXS), using synchrotron radiation. Three different morphologies have been compared: platelets, toroids, and rods. SEM observations of the particles confirm that two key physical parameters control the morphology: the temperature and the stirring of the solution. USAXS curves demonstrate that primary particles with a defined shape are present very early in the reaction mixture, immediately after a very fast nucleation step. This nucleation step is detected at 10 min (56 degrees C) or 15 min (50 degrees C) after the addition of the silica precursor. The main finding is that the USAXS signal is different for each type of morphology, and we demonstrate that the difference is related to the shape of the particles, showing characteristic form factors for the different morphologies (platelet, toroid, and rod). Moreover, the size of the mesocrystal domains is correlated directly with the particle dimensions and shape. When stirred, aggregation between primary particles is detected even after 12 min (56 degrees C). The platelet morphology is promoted by constant stirring of the solution, through an oriented aggregation step between primary particles. In contrast, toroids and rods are only stabilized under static conditions. However, for toroids, aggregation is detected almost immediately after nucleation.
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| 12. |
- Turcot, Valerie, et al.
(author)
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
- 2018
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In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 50:1, s. 26-41
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Journal article (peer-reviewed)abstract
- Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.
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| 13. |
- Yui, Shiro, et al.
(author)
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YAP/TAZ-Dependent Reprogramming of Colonic Epithelium Links ECM Remodeling to Tissue Regeneration
- 2018
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In: Cell Stem Cell. - : Elsevier BV. - 1934-5909. ; 22:1, s. 7-49
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Journal article (peer-reviewed)abstract
- Tissue regeneration requires dynamic cellular adaptation to the wound environment. It is currently unclear how this is orchestrated at the cellular level and how cell fate is affected by severe tissue damage. Here we dissect cell fate transitions during colonic regeneration in a mouse dextran sulfate sodium (DSS) colitis model, and we demonstrate that the epithelium is transiently reprogrammed into a primitive state. This is characterized by de novo expression of fetal markers as well as suppression of markers for adult stem and differentiated cells. The fate change is orchestrated by remodeling the extracellular matrix (ECM), increased FAK/Src signaling, and ultimately YAP/TAZ activation. In a defined cell culture system recapitulating the extracellular matrix remodeling observed in vivo, we show that a collagen 3D matrix supplemented with Wnt ligands is sufficient to sustain endogenous YAP/TAZ and induce conversion of cell fate. This provides a simple model for tissue regeneration, implicating cellular reprogramming as an essential element.
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