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- Gkourogianni, Alexandra, et al.
(författare)
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Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment
- 2020
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Ingår i: Acta Paediatrica. - : Wiley-Blackwell Publishing Inc.. - 0803-5253 .- 1651-2227. ; 109:10, s. 2067-2074
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To explore the phenotype and response to growth hormone in patients with heterozygous-mutations in the insulin-like growth factor I receptor gene (IGF1R).METHODS: Children with short-stature, microcephaly, born SGA combined with biochemical sign of IGF-I insensitivity were analyzed for IGF1R mutations or deletions using Sanger sequencing and Multiple ligation dependent probe amplification analysis.RESULTS: In two families, a novel heterozygous non-synonymous missense IGF1R variant was identified. In family 1, c.3364G>T, p.(Gly1122Cys) was found in the proband and co-segregated perfectly with the phenotype in three generations. In family 2, a de novo variant c.3530G>A, p.(Arg1177His) was detected. Both variants were rare, not present in the GnomAD database. Three individuals carrying IGF1R mutations have received rhGH treatment. The average gain in height SDS during treatment was 0.42 (range: 0.26 - 0.60) and 0.64 (range: 0.32 - 0.86) after 1 and 2 years of treatment, respectively.CONCLUSION: Our study presents two heterozygous IGF1R mutations causing pre- and postnatal growth failure and microcephaly and also indicates that individuals with heterozygous IGF1R mutations can respond to rhGH treatment. The findings highlight that sequencing of the IGF1R should be considered in children with microcephaly and short stature due to pre- and postnatal growth failure.
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- Hestetun Thomassen, Jon, et al.
(författare)
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Grab what you can—an evaluation of spatial replication to decrease heterogeneity in sediment eDNA metabarcoding
- 2021
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Ingår i: PeerJ. - : PeerJ. - 2376-5992 .- 2167-8359. ; 9, s. 1-21
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Tidskriftsartikel (refereegranskat)abstract
- Environmental DNA methods such as metabarcoding have been suggested as possible alternatives or complements to the current practice of morphology-based diversity assessment for characterizing benthic communities in marine sediment. However, the source volume used in sediment eDNA studies is several magnitudes lower than that used in morphological identification. Here, we used data from a North Sea benthic sampling station to investigate to what extent metabarcoding data is affected by sampling bias and spatial heterogeneity. Using three grab parallels, we sampled five separate sediment samples from each grab. We then made five DNA extraction replicates from each sediment sample. Each extract was amplified targeting both the 18S SSU rRNA V1–V2 region for total eukaryotic composition, and the cytochrome c oxidase subunit I (COI) gene for metazoans only. In both datasets, extract replicates from the same sediment sample were significantly more similar than different samples from the same grab. Further, samples from different grabs were less similar than those from the same grab for 18S. Interestingly, this was not true for COI metabarcoding, where the differences within the same grab were similar to the differences between grabs. We also investigated how much of the total identified richness could be covered by extract replicates, individual sediment samples and all sediment samples from a single grab, as well as the variability of Shannon diversity and, for COI, macrofaunal biotic indices indicating environmental status. These results were largely consistent with the beta diversity findings, and show that total eukaryotic diversity can be well represented using 18S metabarcoding with a manageable number of biological replicates. Based on these results, we strongly recommend the combination of different parts of the surface of single grabs for eDNA extraction as well as several grab replicates, or alternatively box cores or similar. This will dilute the effects of dominating species and increase the coverage of alpha diversity. COI-based metabarcoding consistency was found to be lower compared to 18S, but COI macrofauna-based indices were more consistent than direct COI alpha diversity measures.
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- Hu, Zhicheng, et al.
(författare)
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Phenol-soluble modulin α and β display divergent roles in mice with staphylococcal septic arthritis.
- 2022
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 5:1
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Tidskriftsartikel (refereegranskat)abstract
- Phenol-soluble modulin α (PSMα) is identified as potent virulence factors in Staphylococcus aureus (S. aureus) infections. Very little is known about the role of PSMβ which belongs to the same toxin family. Here we compared the role of PSMs in S. aureus-induced septic arthritis in a murine model using three isogenic S. aureus strains differing in the expression of PSMs (Newman, Δpsmα, and Δpsmβ). The effects of PSMs on neutrophil NADPH-oxidase activity were determined in vitro. We show that the PSMα activates neutrophils via the formyl peptide receptor (FPR) 2 and reduces their NADPH-oxidase activity in response to the phorbol ester PMA. Despite being a poor neutrophil activator, PSMβ has the ability to reduce the neutrophil activating effect of PSMα and to partly reverse the effect of PSMα on the neutrophil response to PMA. Mice infected with S. aureus lacking PSMα had better weight development and lower bacterial burden in the kidneys compared to mice infected with the parental strain, whereas mice infected with bacteria lacking PSMβ strain developed more severe septic arthritis accompanied with higher IL-6 and KC. We conclude that PSMα and PSMβ play distinct roles in septic arthritis: PSMα aggravates systemic infection, whereas PSMβ protects arthritis development.
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- Jonsson, Bengt-Gunnar, 1963-, et al.
(författare)
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Rapid changes in ground vegetation of mature boreal forests : an analysis of Swedish national forest inventory data
- 2021
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Ingår i: Forests. - : MDPI. - 1999-4907. ; 12:4
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Tidskriftsartikel (refereegranskat)abstract
- The boreal forest floor vegetation is critical for ecosystem functioning and an important part of forest biodiversity. Given the ongoing global change, knowledge on broad-scale changes in the composition and abundance of different plant species and species groups is hence important for both forest conservation and management. Here, we analyse permanent plot data from the National Forest Inventory (NFI) on changes in the vegetation over a 10-year period in four regions of Sweden. To limit the direct and relatively well-known effects of forest management and associated succession, we only included mature forest stands not influenced by forestry during the 10 years between inventories, and focused on vegetation change mainly related to other factors. Results show strong decrease among many species and species groups. This includes dominant species such as Vaccinimum myrtillus and Deschampsia flexuosa as well as several forest herbs. The only species increasing are some mosses in the southern regions. Our data do not allow for a causal interpretation of the observed patterns. However, the changes probably result from latent succession in combination with climate change and nitrogen deposition, and with time lags complicating the interpretation of their relative importance. Regardless of the cause, the observed changes are on a magnitude that suggest impacts on ecosystem functioning and hence highlight the need for more experimental work.
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- Lanzén, Anders, et al.
(författare)
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Benthic eDNA metabarcoding provides accurate assessments of impact from oil extraction, and ecological insights
- 2021
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Ingår i: Ecological Indicators. - : Elsevier BV. - 1470-160X. ; 130
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Tidskriftsartikel (refereegranskat)abstract
- Apart from its contribution to climate change, offshore oil and gas extraction is also a potential threat to the diversity and function of marine ecosystems. Routine monitoring of the environmental status of affected areas is therefore critical for effective management. While current morphology-based monitoring is relatively time consuming, costly and prone to identification bias, environmental DNA metabarcoding offers an attractive alternative for assessing the impacts of oil drilling, extraction or spills. However, to be ready for routine monitoring, its performance needs to be demonstrated through agreement with assessments based on physicochemical measurements and current bioindicators. To this end, we applied metabarcoding to sequence the metazoan (COI) and total eukaryotic (18S) benthic components. We targeted a range of sites, with a gradient of low to high level of impact, located near active production installations and reference sites, in the North and Barents Seas. Alpha diversity and community structure of both datasets correlated strongly with a physicochemical pressure index (PI) based on total hydrocarbons (THC), PAH16, Ba and Cu. Calculations of the macroinvertebrate-based Norwegian Sensitivity Index (NSI) based on COI metabarcoding data agreed well with corresponding morpho-taxonomy values and with the PI. Further, we identified a set of bioindicator taxa from both metabarcoding datasets, to develop novel biotic indices and demonstrate their predictive performance using cross-validation. Finally, we compared co-occurrence networks from impacted vs. non-impacted sites, to improve the understanding of the ecological consequences of impacts. Our study demonstrates that metabarcoding can act as a meaningful and relatively accurate complement to the current morpho-taxonomic approach.
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- Larson, Mia, et al.
(författare)
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Putting ’fika’ at the top of the agenda – Research and industrial opportunities
- 2023
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Ingår i: Presented at Stockholm Gastronomy Conference, Tore Wretman Symposium, Stockholm, Sweden, November 23-25, 2023. - Stockholm.
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Konferensbidrag (refereegranskat)abstract
- ‘Fika’, the Swedish definition of a causal break, the coffee or tea with pastries and the inclusive meeting point for friends, relatives, colleagues, or business partners signify a central part of everyday life in Sweden. Fika takes many different forms – most of us have fika multiple times a day. The practice of doing fika reaches well beyond the food and beverage consumption that may be what comes first to mind. Relationships are formed, personal and business decisions are made, all in the context of a relaxed atmosphere – the basic intention with fika.The idea of fika has reached beyond the Swedish borders. It has become an increasingly known cultural concept in other countries. Therefore, fika is often used by Swedish companies not only to consider the positive work atmosphere but also in their branding efforts. Fika is also used in destination marketing to attract tourists. We can therefore talk about fika from a social, tourism, and business point of view, and the culinary aspects seem almost endless. Yet there is surprisingly little about fika from a research point of view. We believe that fika has a vast potential to create more positive values and industrial opportunities than it currently does but to achieve that we need more knowledge about fika.How can research facilitate industrial opportunities? This question sets the agenda for what we want to explore. How does interdisciplinary research enhance knowledge of fika in such a way that it can lead to positive spin-offs for the industry? A consortium of researchers from different fields, together with representatives from the industry, are currently aiming to explore these questions.
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| 10. |
- Ly, Helena-Jamin, et al.
(författare)
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Comparison of two prediction models in a clinical setting to predict growth in prepubertal children on recombinant growth hormone
- 2023
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Ingår i: Growth Hormone & Igf Research. - : Elsevier BV. - 1096-6374. ; 68
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Prediction models that calculate the growth response in children on recombinant growth hormone (GH) have shown to be helpful tools in deciding who should start treatment, as identifying GH deficiency can be a challenge. The aim of the study is to compare two prediction models; the KIGS (Pfizer International Growth Study) prediction models which are more accessible and the Gothenburg model which has previously been clinically validated. Design: All prepubertal patients who commenced GH treatment at Queen Silvia Children's Hospital in Gothenburg during a 13-year-period were candidates for the study. Children were excluded if suspected syndrome, malignant disease, chronic disease, or poor adherence to treatment were found. The KIGS model and the Gothenburg model were used to make predictions. Data was obtained from medical charts for the period from birth to the end of the first year of treatment. The predicted height outcome was compared against observed.Results: The study included 123 prepubertal children (76 males). The average age at treatment start and standard deviation (SD) was 5.7 (1.8) years. Correlation analyses were performed between predicted growth by both the Gothenburg and KIGS models versus the first year observed growth response showing strong correlations of r = 0.990 and r = 0.991 respectively with studentized residuals of 0.10 (0.81) for the Gothenburg model and 0.03 (0.96) for the KIGS model.Conclusion: We found that both the Gothenburg model and the KIGS model are equivalent when applying to our clinical cohort. Both models are very precise, hence it is encouraged to use either based on accessibility for the clinic.
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