| 1. |
- Berndt, Sonja I., et al.
(författare)
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
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Tidskriftsartikel (refereegranskat)abstract
- Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
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| 2. |
- Locke, Adam E, et al.
(författare)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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| 3. |
- Sarkadi, Anna, Professor, 1974-, et al.
(författare)
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An Integrated Care Strategy for Pre-schoolers with Suspected Developmental Disorders : The Optimus Co-design Project that has Made it to Regular Care
- 2021
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Ingår i: International Journal of Integrated Care. - : Ubiquity Press. - 1568-4156. ; 21:2
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Multiple neurodevelopmental problems affect 7-8% of children and require evaluation by more than one profession, posing a challenge to care systems.Description: The local problem comprised distressed parents, diagnostic processes averaging 36 months and 28 visits with 42% of children >4 years at referral to adequate services, and no routines for patient involvement. The co-design project was developed through a series of workshops using standard quality improvement methodology, where representatives of all services, as well as parents participated. The resulting integrated care model comprises a team of professionals who evaluate the child during an average of 5.4 appointments (N = 95), taking 4.8 weeks. Parents were satisfied with the holistic service model and 70% of children were under 4 at referral (p < 0.05). While 75% of children were referred, 25% required further follow-up by the team.Discussion: The Optimus model has elements of vertical, clinical and service integration. Reasons for success included leadership support, buy-in from the different organisations, careful process management, a team co-ordinator, and insistent user involvement.Conclusion: Evaluating multiple neurodevelopmental problems in children requires an integrated care approach. The Optimus care model is a relevant showcase for how people-initiated integrated care reforms can make it into usual care.
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| 4. |
- Arborelius, Lotta, et al.
(författare)
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A new interactive computer simulation system for violence risk assessment of mentally disordered violent offenders
- 2013
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Ingår i: CBMH. Criminal behaviour and mental health. - : Wiley. - 0957-9664 .- 1471-2857. ; 23:1, s. 30-40
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Tidskriftsartikel (refereegranskat)abstract
- Background Assessment of risk of future violence has developed from reliance on static indicators towards a more dynamic approach. In the latter context, however, the offender is seldom confronted with real life situations. Aims The aim of this study is to evaluate a computer-based system Reactions on Display, which presents human interactions based on real-life situations for its effectiveness in distinguishing between potentially violent offenders with mental disorder and a healthy comparison group. Methods Male offenders with autism spectrum disorders or psychosis were recruited from specialist forensic psychiatric units in Sweden and healthy participants from the local communities. Each consenting participant was presented with film clips of a man in neutral and violent situations, which at critical moments stopped the story to ask him to predict the thoughts, feelings and actions of the actor. Results Offender patients, irrespective of diagnosis, detected fewer emotional reactions in the actor in the non-violent sequence compared with controls. When asked to choose one of four violent actions, the offender patients chose more violent actions than did the controls. They also reported fewer physical reactions in the actors when actors were being violent. There were also some examples of incongruent or deviant responses by some individual patients. Conclusions and implications for practice The use of interactive computer simulation techniques is not only generally acceptable to offender patients, but it also helps to differentiate their current response style to particular circumstances from that of healthy controls in a way that does not rely on their verbal abilities and may tap more effectively into their emotional reactions than standard verbal questions and answer approaches. This may pave the way for Reactions on Display providing a useful complement to traditional risk assessment, and a training route with respect to learning more empathic responding, thus having a role in aiding risk management.
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| 5. |
- Arvidsson, Yvonne, 1960, et al.
(författare)
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miRNA profiling of small intestinal neuroendocrine tumors defines novel molecular subtypes and identifies miR-375 as a biomarker of patient survival
- 2018
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Ingår i: Modern Pathology. - : Elsevier BV. - 0893-3952 .- 1530-0285. ; 31, s. 1302-1317
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Tidskriftsartikel (refereegranskat)abstract
- © 2018, United States & Canadian Academy of Pathology. The aim of this study was to define the miRNA profile of small intestinal neuroendocrine tumors and to search for novel molecular subgroups and prognostic biomarkers. miRNA profiling was conducted on 42 tumors from 37 patients who underwent surgery for small intestinal neuroendocrine tumors. Unsupervised hierarchical clustering analysis of miRNA profiles identified two groups of tumor metastases, denoted cluster M1 and M2. The smaller cluster M1 was associated with shorter overall survival and contained tumors with higher grade (WHO grade G2/3) and multiple chromosomal gains including gain of chromosome 14. Tumors of cluster M1 had elevated expression of miR-1246 and miR-663a, and reduced levels of miR-488-3p. Pathway analysis predicted Wnt signaling to be the most significantly altered signaling pathway between clusters M1 and M2. Analysis of miRNA expression in relation to tumor proliferation rate showed significant alterations including downregulation of miR-137 and miR-204-5p in tumors with Ki67 index above 3%. Similarly, tumor progression was associated with significant alterations in miRNA expression, e.g. higher expression of miR-95 and miR-210, and lower expression of miR-378a-3p in metastases. Pathway analysis predicted Wnt signaling to be altered during tumor progression, which was supported by decreased nuclear translocation of β-catenin in metastases. Survival analysis revealed that downregulation of miR-375 was associated with shorter overall survival. We performed in situ hybridization on biopsies from an independent cohort of small intestinal neuroendocrine tumors using tissue microarrays. Expression of miR-375 was found in 578/635 (91%) biopsies and survival analysis confirmed that there was a correlation between downregulation of miR-375 in tumor metastases and shorter patient survival. We conclude that miRNA profiling defines novel molecular subgroups of metastatic small intestinal neuroendocrine tumors and identifies miRNAs associated with tumor proliferation rate and progression. miR-375 is highly expressed in small intestinal neuroendocrine tumors and may be used as a prognostic biomarker.
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| 6. |
- Axelson, Karin, 1977-, et al.
(författare)
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Resultat från nationella provet i matematik kurs 1a och 1b vårterminen 2022 : Delrapport 2
- 2022
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- De nationella proven i matematik 1a och 1b konstrueras och utvecklas, på uppdrag av Skolverket, av PRIM-gruppen vid Stockholms universitet. I denna rapport presenteras en sammanställning och diskussion av resultaten för de nationella proven i matematik 1a och 1b som gavs vårterminen 2022.Det huvudsakliga syftet med rapporten är att redovisa och diskutera resultaten från genomförandet av dessa prov utifrån den revidering av ämnesplanen som genomförts. Resultatredovisningen från vårterminens nationella prov i matematik 1a och 1b kommer från PRIM-gruppens urvalsinsamling och bestod av lärarenkäter och inrapporterade resultat på uppgiftsnivå från ett slumpmässigt urval elever. PRIM-gruppens urvalsinsamling för matematik 1a omfattade vårterminen 2022 elever från olika yrkesprogram och för matematik 1b elever från samhällsvetenskapsprogrammet, ekonomiprogrammet, estetiska programmet och humanistiska programmet.Skolverket genomför enbart insamling av provbetyg på nationella prov för elevers avslutande matematikkurs i gymnasieskolan det vill säga för elever från de olika yrkesprogrammen som slutfört matematik 1a och för elever från estetiska och humanistiska programmet som slutfört matematik 1b. Resultaten från lärarenkäterna och elevresultaten på uppgiftsnivå är viktiga källor för analys och utvecklingen av de nationella proven. För matematik 1a bestod insamlingen från vårterminen 2022 av resultat från ca 600 lärare och ca 4 000 elever (ca 1 600 flickor respektive ca 2 400 pojkar) och för matematik 1b ca 550 lärare och ca 4 300 elever (ca 2 600 flickor respektive ca 1 700 pojkar).Resultatrapporten är uppdelad i två delrapporter. Detta är den andra delrapporten och den består av analyser av elevers prestationer på ett urval av uppgifter utifrån ett antal elevarbeten. Den första delrapporten innehåller resultat från prov och lärarenkäter.
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| 7. |
- Bengtsson-Palme, Johan, 1985, et al.
(författare)
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Improved software detection and extraction of ITS1 and ITS2 from ribosomal ITS sequences of fungi and other eukaryotes for analysis of environmental sequencing data
- 2013
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Ingår i: Methods in Ecology and Evolution. - 2041-210X. ; 4:10, s. 914-919
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Tidskriftsartikel (refereegranskat)abstract
- The nuclear ribosomal internal transcribed spacer (ITS) region is the primary choice for molecular identification of fungi. Its two highly variable spacers (ITS1 and ITS2) are usually species specific, whereas the intercalary 5.8S gene is highly conserved. For sequence clustering and blast searches, it is often advantageous to rely on either one of the variable spacers but not the conserved 5.8S gene. To identify and extract ITS1 and ITS2 from large taxonomic and environmental data sets is, however, often difficult, and many ITS sequences are incorrectly delimited in the public sequence databases. We introduce ITSx, a Perl-based software tool to extract ITS1, 5.8S and ITS2 – as well as full-length ITS sequences – from both Sanger and high-throughput sequencing data sets. ITSx uses hidden Markov models computed from large alignments of a total of 20 groups of eukaryotes, including fungi, metazoans and plants, and the sequence extraction is based on the predicted positions of the ribosomal genes in the sequences. ITSx has a very high proportion of true-positive extractions and a low proportion of false-positive extractions. Additionally, process parallelization permits expedient analyses of very large data sets, such as a one million sequence amplicon pyrosequencing data set. ITSx is rich in features and written to be easily incorporated into automated sequence analysis pipelines. ITSx paves the way for more sensitive blast searches and sequence clustering operations for the ITS region in eukaryotes. The software also permits elimination of non-ITS sequences from any data set. This is particularly useful for amplicon-based next-generation sequencing data sets, where insidious non-target sequences are often found among the target sequences. Such non-target sequences are difficult to find by other means and would contribute noise to diversity estimates if left in the data set.
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| 8. |
- Bennet, Tova, et al.
(författare)
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Den rättspsykiatriska vården är inte rättssäker – agera nu
- 2020
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Ingår i: Göteborgs-Posten. - Göteborg : Göteborgposten. - 1103-9345. ; :Oktober 19
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- Det svenska rättssystemet som tillåter att vi dömer psykiskt sjuka för brott och att personer som saknar vårdbehov kan hållas frihetsberövade inom rättspsykiatrin under mycket lång tid med oklart vårdinnehåll, är unikt och har fått rättmätig kritik under lång tid. Ändå händer ingenting.
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| 9. |
- Berglund, Fanny, et al.
(författare)
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An updated phylogeny of the metallo-β-lactamases.
- 2021
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Ingår i: The Journal of antimicrobial chemotherapy. - : Oxford University Press (OUP). - 1460-2091 .- 0305-7453. ; 76:1, s. 117-123
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Tidskriftsartikel (refereegranskat)abstract
- Metallo-β-lactamases (MBLs) are enzymes that use zinc-dependent hydrolysis to confer resistance to almost all available β-lactam antibiotics. They are hypothesized to originate from commensal and environmental bacteria, from where some have mobilized and transferred horizontally to pathogens. The current phylogeny of MBLs, however, is biased as it is founded largely on genes encountered in pathogenic bacteria. This incompleteness is emphasized by recent findings of environmental MBLs with new forms of zinc binding sites and atypical functional profiles.To expand the phylogeny of MBLs to provide a more accurate view of their evolutionary history.We searched more than 16 terabases of genomic and metagenomic data for MBLs of the three subclasses B1, B2 and B3 using the validated fARGene method. Predicted genes, together with the previously known ones, were used to infer phylogenetic trees.We identified 2290 unique MBL genes forming 817 gene families, of which 741 were previously uncharacterized. MBLs from subclasses B1 and B3 separated into distinct monophyletic groups, in agreement with their taxonomic and functional properties. We present evidence that clinically associated MBLs were mobilized from Proteobacteria. Additionally, we identified three new variants of the zinc binding sites, indicating that the functional repertoire is broader than previously reported.Based on our results, we recommend that the nomenclature of MBLs is refined into the phylogenetic groups B1.1-B1.5 and B3.1-B3.4 that more accurately describe their molecular and functional characteristics. Our results will also facilitate the annotation of novel MBLs, reflecting their taxonomic organization and evolutionary origin.
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| 10. |
- Berglund, Fanny, et al.
(författare)
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Comprehensive screening of genomic and metagenomic data reveals a large diversity of tetracycline resistance genes
- 2020
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Ingår i: Microbial genomics. - : Microbiology Society. - 2057-5858. ; 6:11
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Tidskriftsartikel (refereegranskat)abstract
- Tetracyclines are broad-spectrum antibiotics used to prevent or treat a variety of bacterial infections. Resistance is often mediated through mobile resistance genes, which encode one of the three main mechanisms: active efflux, ribosomal target protection or enzymatic degradation. In the last few decades, a large number of new tetracycline-resistance genes have been discovered in clinical settings. These genes are hypothesized to originate from environmental and commensal bacteria, but the diversity of tetracycline-resistance determinants that have not yet been mobilized into pathogens is unknown. In this study, we aimed to characterize the potential tetracycline resistome by screening genomic and metagenomic data for novel resistance genes. By using probabilistic models, we predicted 1254 unique putative tetracycline resistance genes, representing 195 gene families (<70% amino acid sequence identity), whereof 164 families had not been described previously. Out of 17 predicted genes selected for experimental verification, 7 induced a resistance phenotype in an Escherichia coli host. Several of the predicted genes were located on mobile genetic elements or in regions that indicated mobility, suggesting that they easily can be shared between bacteria. Furthermore, phylogenetic analysis indicated several events of horizontal gene transfer between bacterial phyla. Our results also suggested that acquired efflux pumps originate from proteobacterial species, while ribosomal protection genes have been mobilized from Firmicutes and Actinobacteria. This study significantly expands the knowledge of known and putatively novel tetracycline resistance genes, their mobility and evolutionary history. The study also provides insights into the unknown resistome and genes that may be encountered in clinical settings in the future.
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