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- 2019
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Journal article (peer-reviewed)
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| 2. |
- Freud, Lindsay R., et al.
(author)
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Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
- 2024
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In: American Journal of Obstetrics and Gynecology. - 0002-9378 .- 1097-6868. ; 230:3
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Journal article (peer-reviewed)abstract
- Background: The 22q11.2 deletion syndrome is the most common microdeletion syndrome and is frequently associated with congenital heart disease. Prenatal diagnosis of 22q11.2 deletion syndrome is increasingly offered. It is unknown whether there is a clinical benefit to prenatal detection as compared with postnatal diagnosis. Objective: This study aimed to determine differences in perinatal and infant outcomes between patients with prenatal and postnatal diagnosis of 22q11.2 deletion syndrome. Study Design: This was a retrospective cohort study across multiple international centers (30 sites, 4 continents) from 2006 to 2019. Participants were fetuses, neonates, or infants with a genetic diagnosis of 22q11.2 deletion syndrome by 1 year of age with or without congenital heart disease; those with prenatal diagnosis or suspicion (suggestive ultrasound findings and/or high-risk cell-free fetal DNA screen for 22q11.2 deletion syndrome with postnatal confirmation) were compared with those with postnatal diagnosis. Perinatal management, cardiac and noncardiac morbidity, and mortality by 1 year were assessed. Outcomes were adjusted for presence of critical congenital heart disease, gestational age at birth, and site. Results: A total of 625 fetuses, neonates, or infants with 22q11.2 deletion syndrome (53.4% male) were included: 259 fetuses were prenatally diagnosed (156 [60.2%] were live-born) and 122 neonates were prenatally suspected with postnatal confirmation, whereas 244 infants were postnatally diagnosed. In the live-born cohort (n=522), 1-year mortality was 5.9%, which did not differ between groups but differed by the presence of critical congenital heart disease (hazard ratio, 4.18; 95% confidence interval, 1.56–11.18; P<.001) and gestational age at birth (hazard ratio, 0.78 per week; 95% confidence interval, 0.69–0.89; P<.001). Adjusting for critical congenital heart disease and gestational age at birth, the prenatal cohort was less likely to deliver at a local community hospital (5.1% vs 38.2%; odds ratio, 0.11; 95% confidence interval, 0.06–0.23; P<.001), experience neonatal cardiac decompensation (1.3% vs 5.0%; odds ratio, 0.11; 95% confidence interval, 0.03–0.49; P=.004), or have failure to thrive by 1 year (43.4% vs 50.3%; odds ratio, 0.58; 95% confidence interval, 0.36–0.91; P=.019). Conclusion: Prenatal detection of 22q11.2 deletion syndrome was associated with improved delivery management and less cardiac and noncardiac morbidity, but not mortality, compared with postnatal detection.
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| 3. |
- George, T. S., et al.
(author)
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Organic phosphorus in the terrestrial environment : a perspective on the state of the art and future priorities
- 2018
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In: Plant and Soil. - : Springer Netherlands. - 0032-079X .- 1573-5036. ; 427:1-2, s. 191-208
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Journal article (peer-reviewed)abstract
- Background: The dynamics of phosphorus (P) in the environment is important for regulating nutrient cycles in natural and managed ecosystems and an integral part in assessing biological resilience against environmental change. Organic P (P-o) compounds play key roles in biological and ecosystems function in the terrestrial environment being critical to cell function, growth and reproduction.Scope: We asked a group of experts to consider the global issues associated with P-o in the terrestrial environment, methodological strengths and weaknesses, benefits to be gained from understanding the P-o cycle, and to set priorities for P-o research.Conclusions: We identified seven key opportunities for P-o research including: the need for integrated, quality controlled and functionally based methodologies; assessment of stoichiometry with other elements in organic matter; understanding the dynamics of P-o in natural and managed systems; the role of microorganisms in controlling P-o cycles; the implications of nanoparticles in the environment and the need for better modelling and communication of the research. Each priority is discussed and a statement of intent for the P-o research community is made that highlights there are key contributions to be made toward understanding biogeochemical cycles, dynamics and function of natural ecosystems and the management of agricultural systems.
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| 4. |
- Halme, P., et al.
(author)
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Challenges of ecological restoration : Lessons from forests in northern Europe
- 2013
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In: Biological Conservation. - : Elsevier BV. - 0006-3207 .- 1873-2917. ; 167, s. 248-256
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Research review (peer-reviewed)abstract
- The alarming rate of ecosystem degradation has raised the need for ecological restoration throughout different biomes and continents. North European forests may appear as one of the least vulnerable ecosystems from a global perspective, since forest cover is not rapidly decreasing and many ecosystem services remain at high level. However, extensive areas of northern forests are heavily exploited and have lost a major part of their biodiversity value. There is a strong requirement to restore these areas towards a more natural condition in order to meet the targets of the Convention on Biological Diversity. Several northern countries are now taking up this challenge by restoring forest biodiversity with increasing intensity. The ecology and biodiversity of boreal forests are relatively well understood making them a good model for restoration activities in many other forest ecosystems. Here we introduce northern forests as an ecosystem, discuss the historical and recent human impact and provide a brief status report on the ecological restoration projects and research already conducted there. Based on this discussion, we argue that before any restoration actions commence, the ecology of the target ecosystem should be established with the need for restoration carefully assessed and the outcome properly monitored. Finally, we identify the most important challenges that need to be solved in order to carry out efficient restoration with powerful and long-term positive impacts on biodiversity: coping with unpredictability, maintaining connectivity in time and space, assessment of functionality, management of conflicting interests and social restrictions and ensuring adequate funding. © 2013 Elsevier Ltd.
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| 5. |
- Hedman, Jenny E., et al.
(author)
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Fate of contaminants in Baltic Sea sediments : role of bioturbation and settling organic matter
- 2008
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In: Marine Ecology Progress Series. - : Inter-Research Science Center. - 0171-8630 .- 1616-1599. ; 356, s. 25-38
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Journal article (peer-reviewed)abstract
- This experimental study examined the interactive effects of bioturbation and settling organic matter (OM) on the fate (burial and remobilisation) of 2 surface-deposited contaminants in Baltic Sea sediment: the metal Cd and a hydrophobic organic pollutant, the flame retardant BDE-99. Three macrofaunal species with diverse feeding and bioturbation strategies were used: the amphipod Monoporeia affinis, the clam Macoma balthica and the polychaete Marenzelleria spp. Radiolabelled contaminants were added to the sediment surface in association with 3 different OM types: (1) phytoplankton, (2) terrestrial lignin and (3) Baltic sediment. Bioturbation by all species increased the retention of both contaminants in the sediment, most effectively M. affinis and M. balthica. A decoupled transport of Cd and BDE-99 by Marenzelleria was observed. Generally, Marenzelleria buried the highest amount of Cd into the sediment but also caused the highest remobilisation to the water, indicating an effective transport of (soluble) Cd over the sediment-water interface via bio-irrigation. Lack of the highly hydrophobic and mainly particle-associated BDE-99 below the sediment surface suggests that Marenzelleria caused no significant particle mixing. The addition of various OM types significantly affected the distribution of Cd, but not of BDE-99. There was an interactive effect between bioturbation (species) and OM type, generally showing an increased burial and release of Cd when associated with phytoplankton in the presence of Marenzelleria. Our results emphasise the importance of understanding the complex interactions between ecological (e.g. infaunal feeding and bioturbation activities) and physiochemical processes (contaminant speciation and sorption kinetics) when assessing the fate of contaminants in aquatic ecosystems.
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| 6. |
- Hägg, Sara, 1977-, et al.
(author)
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Multi-Organ Expression Profiling Uncovers a Gene Module in Coronary Artery Disease Involving Transendothelial Migration of Leukocytes and LIM Domain Binding 2 : The Stockholm Atherosclerosis Gene Expression (STAGE) Study
- 2009
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In: PLoS Genetics. - : PLoS Genetics. - 1553-7390 .- 1553-7404. ; 5:12, s. e1000754-
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Journal article (peer-reviewed)abstract
- Environmental exposures filtered through the genetic make-up of each individual alter the transcriptional repertoire in organs central to metabolic homeostasis, thereby affecting arterial lipid accumulation, inflammation, and the development of coronary artery disease (CAD). The primary aim of the Stockholm Atherosclerosis Gene Expression (STAGE) study was to determine whether there are functionally associated genes (rather than individual genes) important for CAD development. To this end, two-way clustering was used on 278 transcriptional profiles of liver, skeletal muscle, and visceral fat (n=66/tissue) and atherosclerotic and unaffected arterial wall (n=40/tissue) isolated from CAD patients during coronary artery bypass surgery. The first step, across all mRNA signals (n=15,042/12,621 RefSeqs/genes) in each tissue, resulted in a total of 60 tissue clusters (n=3958 genes). In the second step (performed within tissue clusters), one atherosclerotic lesion (n=49/48) and one visceral fat (n=59) cluster segregated the patients into two groups that differed in the extent of coronary stenosis (P=0.008 and P=0.00015). The associations of these clusters with coronary atherosclerosis were validated by analyzing carotid atherosclerosis expression profiles. Remarkably, in one cluster (n=55/54) relating to carotid stenosis (P=0.04), 27 genes in the two clusters relating to coronary stenosis were confirmed (n=16/17, P<10-27and-30). Genes in the transendothelial migration of leukocytes (TEML) pathway were overrepresented in all three clusters, referred to as the atherosclerosis module (A-module). In a second validation step, using three independent cohorts, the A-module was found to be genetically enriched with CAD risk by 1.8-fold (P<0.004). The transcription co-factor LIM domain binding 2 (LDB2) was identified as a potential high-hierarchy regulator of the A-module, a notion supported by subnetwork analysis, cellular and lesion expression of LDB2, and the expression of 13 TEML genes in Ldb2-deficient arterial wall. Thus, the A-module appears to be important for atherosclerosis development and together with LDB2 merits further attention in CAD research.
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| 7. |
- Jørgensen, Charlotte Levin Tykjær, et al.
(author)
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Pam50 intrinsic subtype profiles in primary and metastatic breast cancer show a significant shift toward more aggressive subtypes with prognostic implications
- 2021
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In: Cancers. - : MDPI AG. - 2072-6694. ; 13:7
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Journal article (peer-reviewed)abstract
- Background: PAM50 breast cancer intrinsic subtyping adds prognostic information in early breast cancer; however, the role in metastatic disease is unclear. We aimed to identify PAM50 subtypes in primary tumors (PTs) and metastases to outline subtype changes and their prognostic role. Methods: RNA was isolated from PTs, lymph node metastases (LNMs), and distant metastases (DMs) in metastatic breast cancer patients (n = 140) included in a prospective study (NCT01322893). Gene expression analyses were performed using the Breast Cancer 360 (BC360) assay from Nano-String. The subtype shifts were evaluated using McNemar and symmetry tests, and clinical outcomes were evaluated with log-rank tests and Cox regression. Results: The PAM50 subtype changed in 25/59 of paired samples between PTs and LNMs (Psymmetry = 0.002), in 31/61 between PTs and DMs (Psymmetry < 0.001), and in 16/38 between LNMs and DMs (Psymmetry = 0.004). Shifts toward subtypes with worse outcomes were the most common. Patients with shifts from the luminal PT to non-luminal DM subtypes had worse progression-free survival compared to patients with a stable subtype (hazard ratio (HR): 2.3; 95% confidence interval (CI): 1.14–4.68, p = 0.02). Conclusion: Strong evidence of PAM50 subtype shifts toward unfavorable subtypes were seen between PTs and metastatic samples. For patients with a shift in subtype from luminal PT to non-luminal DM, a worse prognosis was noted.
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| 8. |
- Skogsberg, Josefin, et al.
(author)
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Whole-genome expression profiling of human plaques to identify genes relevant for atherosclerosis : the Stockholm Atherosclerosis Gene Expression Study, Stockholm Söder Hospital, Sweden (SöS-STAGE)
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Other publication (other academic/artistic)abstract
- ObjectiveTo reveal relevant genes for atherosclerosis by whole-genome expression analyses of plaques from patients undergoing carotid endorectomy.Methods and ResultsWhole-genome expression measurements (WGEM) using Affymetrix HG-U133_Plus_2 chip of carotid plaques in patients undergoing carotid endorectomy at Stockholm Söder Hospital, Sweden. Patients were screened for conventional risk factors at a three-month follow-up visit and atherosclerosis burden in the common carotid artery (CCA) was measured by intima-media thickness (IMT). An unsupervised coupled two-way clustering approach identified genderspecific genes and 55 genes associated to degree of IMT in these patients.ConclusionsCoupled two-way clustering of carotid lesion expression profiles from a well-characterized clinical cohort is useful for identification of novel genes that may be relevant for atheroscleroris.
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| 9. |
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| 10. |
- Thorsson, Maria H., et al.
(author)
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Effects of settling organic matter on the bioaccumulation of cadmium and BDE-99 by Baltic Sea benthic invertebrates.
- 2008
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In: Marine Environmental Research. - : Elsevier BV. - 0141-1136 .- 1879-0291. ; 65:3, s. 264-281
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Journal article (peer-reviewed)abstract
- Settling organic matter (OM) is the major food source for heterotrophic benthic fauna. The high sorption affinity of many contaminants for OM implies that OM can influence both the distribution and bioavailability of contaminants. Here, we experimentally examine the role of settling OM of various nutritional qualities on the bioaccumulation of cadmium and the flame retardant BDE-99 by three benthic invertebrates; Macoma balthica, Monoporeia affinis and Marenzelleria sp. Contaminants were associated with three types of OM; a microalgae (Tetraselmis spp.), lignin and sediment. Bioaccumulation of Cd was proportional to OM nutritional quality for all three species, and was species-specific in the order Marenzelleria > M. balthica > M. affinis. BDE-99 bioaccumulation was highest in the treatment with the most nutritious OM (Tetraselmis). Consequently, both benthic species composition and the nutritive value of organic matter settling to the seafloor can have a substantial effect on the bioaccumulation of both metals and organic contaminants.
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