| 1. |
- Vogel, G. F., et al.
(författare)
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
- 2023
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Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 25:6
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and determine the role of cysteine supplementation in its treatment. Methods: Individuals with biallelic (likely) pathogenic variants in TRMU were studied within an international retrospective collection of de-identified patient data. Results: In 62 individuals, including 30 previously unreported cases, we described 47 (likely) pathogenic TRMU variants, of which 17 were novel, and 1 intragenic deletion. Of these 62 individuals, 42 were alive at a median age of 6.8 (0.6-22) years after a median follow-up of 3.6 (0.1-22) years. The most frequent finding, occurring in all but 2 individuals, was liver involvement. ALF occurred only in the first year of life and was reported in 43 of 62 individuals; 11 of whom received liver transplantation. Loss-of-function TRMU variants were associated with poor survival. Supplementation with at least 1 cysteine source, typically N-acetylcysteine, improved survival significantly. Neurodevelopmental delay was observed in 11 individuals and persisted in 4 of the survivors, but we were unable to determine whether this was a primary or a secondary consequence of TRMU deficiency. Conclusion: In most patients, TRMU-associated ALF was a transient, reversible disease and cysteine supplementation improved survival.
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| 2. |
- Arnott, Shelley E., et al.
(författare)
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Widespread variation in salt tolerance within freshwater zooplankton species reduces the predictability of community-level salt tolerance
- 2023
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Ingår i: Limnology and Oceanography Letters. - : John Wiley & Sons. - 2378-2242. ; 8:1, s. 8-18
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Tidskriftsartikel (refereegranskat)abstract
- The salinization of freshwaters is a global threat to aquatic biodiversity. We quantified variation in chloride (Cl-) tolerance of 19 freshwater zooplankton species in four countries to answer three questions: (1) How much variation in Cl- tolerance is present among populations? (2) What factors predict intraspecific variation in Cl- tolerance? (3) Must we account for intraspecific variation to accurately predict community Cl- tolerance? We conducted field mesocosm experiments at 16 sites and compiled acute LC(50)s from published laboratory studies. We found high variation in LC(50)s for Cl- tolerance in multiple species, which, in the experiment, was only explained by zooplankton community composition. Variation in species-LC50 was high enough that at 45% of lakes, community response was not predictable based on species tolerances measured at other sites. This suggests that water quality guidelines should be based on multiple populations and communities to account for large intraspecific variation in Cl- tolerance.
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| 3. |
- Ersoy, L., et al.
(författare)
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Circulating fluidized bed hydrodynamics with air staging: an experimental study
- 2004
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Ingår i: Powder Technology. ; 145, s. 25-33
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Tidskriftsartikel (refereegranskat)abstract
- The influence of secondary air injection (SA) on the hydrodynamics of circulating fluidized beds was studied in a 0.23-m ID riser. The secondary to primary air ratio, the vertical position, and the mode of injection (radial, tangential, and 45j entrance) are considered to be the key parameters of SA injection. It was found that the amount and location of SA have direct influence on the solids holdup and the segregation patterns in the riser. The SA divided the riser into two different flow zones: a dense turbulent zone below and a relatively dilute bed above the injection port. The mean solids velocity is found to be upwards with a greater magnitude in the center region. It is downwards with a smaller magnitude along the walls, suggesting core-annular flow structures for both above and below the SA injection region.
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| 4. |
- Hebert, Marie-Pier, et al.
(författare)
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Lake salinization drives consistent losses of zooplankton abundance and diversity across coordinated mesocosm experiments
- 2023
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Ingår i: Limnology and Oceanography Letters. - : John Wiley & Sons. - 2378-2242. ; 8:1, s. 19-29
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Tidskriftsartikel (refereegranskat)abstract
- Human-induced salinization increasingly threatens inland waters; yet we know little about the multifaceted response of lake communities to salt contamination. By conducting a coordinated mesocosm experiment of lake salinization across 16 sites in North America and Europe, we quantified the response of zooplankton abundance and (taxonomic and functional) community structure to a broad gradient of environmentally relevant chloride concentrations, ranging from 4 to ca. 1400 mg Cl- L-1. We found that crustaceans were distinctly more sensitive to elevated chloride than rotifers; yet, rotifers did not show compensatory abundance increases in response to crustacean declines. For crustaceans, our among-site comparisons indicate: (1) highly consistent decreases in abundance and taxon richness with salinity; (2) widespread chloride sensitivity across major taxonomic groups (Cladocera, Cyclopoida, and Calanoida); and (3) weaker loss of functional than taxonomic diversity. Overall, our study demonstrates that aggregate properties of zooplankton communities can be adversely affected at chloride concentrations relevant to anthropogenic salinization in lakes.
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| 5. |
- Nava, Veronica, et al.
(författare)
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Plastic debris in lakes and reservoirs
- 2023
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Ingår i: Nature. - : Springer Nature. - 0028-0836 .- 1476-4687. ; 619:7969, s. 317-322
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Tidskriftsartikel (refereegranskat)abstract
- Plastic debris is thought to be widespread in freshwater ecosystems globally(1). However, a lack of comprehensive and comparable data makes rigorous assessment of its distribution challenging(2,3). Here we present a standardized cross-national survey that assesses the abundance and type of plastic debris (>250 mu m) in freshwater ecosystems. We sample surface waters of 38 lakes and reservoirs, distributed across gradients of geographical position and limnological attributes, with the aim to identify factors associated with an increased observation of plastics. We find plastic debris in all studied lakes and reservoirs, suggesting that these ecosystems play a key role in the plastic-pollution cycle. Our results indicate that two types of lakes are particularly vulnerable to plastic contamination: lakes and reservoirs in densely populated and urbanized areas and large lakes and reservoirs with elevated deposition areas, long water-retention times and high levels of anthropogenic influence. Plastic concentrations vary widely among lakes; in the most polluted, concentrations reach or even exceed those reported in the subtropical oceanic gyres, marine areas collecting large amounts of debris(4). Our findings highlight the importance of including lakes and reservoirs when addressing plastic pollution, in the context of pollution management and for the continued provision of lake ecosystem services.
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| 6. |
- Nikogosian, I.K., et al.
(författare)
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Multiple subduction imprints in the mantle below Italy detected in a single lava flow.
- 2016
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Ingår i: Earth and Planetary Science Letters. - : Elsevier BV. - 0012-821X .- 1385-013X. ; 449, s. 12-19
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Tidskriftsartikel (refereegranskat)abstract
- Post-collisional magmatism reflects the regional subduction history prior to collision but the link between the two is complex and often poorly understood. The collision of continents along a convergent plate boundary commonly marks the onset of a variety of transitional geodynamic processes. Typical responses include delamination of subducting lithosphere, crustal thickening in the overriding plate, slab detachment and asthenospheric upwelling, or the complete termination of convergence. A prominent example is the Western–Central Mediterranean, where the ongoing slow convergence of Africa and Europe (Eurasia) has been accommodated by a variety of spreading and subduction systems that dispersed remnants of subducted lithosphere into the mantle, creating a compositionally wide spectrum of magmatism. Using lead isotope compositions of a set of melt inclusions in magmatic olivine crystals we detect exceptional heterogeneity in the mantle domain below Central Italy, which we attribute to the presence of continental material, introduced initially by Alpine and subsequently by Apennine subduction. We show that superimposed subduction imprints of a mantle source can be tapped during a melting episode millions of years later, and are recorded in a single lava flow.
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| 7. |
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| 8. |
- Baskici, C., et al.
(författare)
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“Being in the digital box”. Academic staff experiences in online practical teaching : A qualitative study from six universities and countries
- 2024
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Ingår i: Heliyon. - : Elsevier. - 2405-8440. ; 10:2
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Tidskriftsartikel (refereegranskat)abstract
- The COVID-19 pandemic has caused radical changes in education, as in everything else, bringing many challenges. Despite all the difficulties, the COVID-19 pandemic has enormous opportunities for online teaching and the use of digital technologies. A comprehensive understanding of this period is needed to investigate these opportunities. Thus, this study aims to explore the academic staff's experiences of online teaching and the use of digital technologies in practical skills-based courses in health care education. This study was conducted at six universities from six countries (Türkiye, Sweden, Finland, Portugal, Latvia, Lithuania). Data were collected between June 17, 2021 and November 30, 2021 via a focus group with an in-depth interview technique. 22 focus group interviews were conducted with a total of 117 participants. Colaizzi's method was used to evaluate the data to discover, comprehend, and define the experiences of academic staff. The analysis of the interview data resulted in 6 themes, 25 subthemes and 56 categories that captured participants' experiences regarding online teaching of practical skills and using digital technologies in health care education. The findings of the study provide crucial information that will help online teaching and digital technology for practical skills be successfully integrated.
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| 9. |
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| 10. |
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| 11. |
- Hendry, Alexandra, et al.
(författare)
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Atypical Development of Attentional Control Associates with Later Adaptive Functioning, Autism and ADHD Traits
- 2020
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Ingår i: Journal of autism and developmental disorders. - : Springer Nature. - 0162-3257 .- 1573-3432. ; 50:11, s. 4085-4105
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Tidskriftsartikel (refereegranskat)abstract
- Autism is frequently associated with difficulties with top-down attentional control, which impact on individuals’ mental health and quality of life. The developmental processes involved in these attentional difficulties are not well understood. Using a data-driven approach, 2 samples (N = 294 and 412) of infants at elevated and typical likelihood of autism were grouped according to profiles of parent report of attention at 10, 15 and 25 months. In contrast to the normative profile of increases in attentional control scores between infancy and toddlerhood, a minority (7–9%) showed plateauing attentional control scores between 10 and 25 months. Consistent with pre-registered hypotheses, plateaued growth of attentional control was associated with elevated autism and ADHD traits, and lower adaptive functioning at age 3 years.
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| 12. |
- Hintz, William D., et al.
(författare)
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Current water quality guidelines across North America and Europe do not protect lakes from salinization
- 2022
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 119:9
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Tidskriftsartikel (refereegranskat)abstract
- Human-induced salinization caused by the use of road deicing salts, agricultural practices, mining operations, and climate change is a major threat to the biodiversity and functioning of freshwater ecosystems. Yet, it is unclear if freshwater ecosystems are protected from salinization by current water quality guidelines. Leveraging an experimental network of land-based and in-lake mesocosms across North America and Europe, we tested how salinization—indicated as elevated chloride (Cl−) concentration—will affect lake food webs and if two of the lowest Cl− thresholds found globally are sufficient to protect these food webs. Our results indicated that salinization will cause substantial zooplankton mortality at the lowest Cl− thresholds established in Canada (120 mg Cl−/L) and the United States (230 mg Cl−/L) and throughout Europe where Cl− thresholds are generally higher. For instance, at 73% of our study sites, Cl− concentrations that caused a ≥50% reduction in cladoceran abundance were at or below Cl− thresholds in Canada, in the United States, and throughout Europe. Similar trends occurred for copepod and rotifer zooplankton. The loss of zooplankton triggered a cascading effect causing an increase in phytoplankton biomass at 47% of study sites. Such changes in lake food webs could alter nutrient cycling and water clarity and trigger declines in fish production. Current Cl− thresholds across North America and Europe clearly do not adequately protect lake food webs. Water quality guidelines should be developed where they do not exist, and there is an urgent need to reassess existing guidelines to protect lake ecosystems from human-induced salinization.
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| 13. |
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