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Sökning: WFRF:(Nilsson Patrik)

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21.
  • Ameur, Adam, et al. (författare)
  • SweGen : a whole-genome data resource of genetic variability in a cross-section of the Swedish population
  • 2017
  • Ingår i: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 25:11, s. 1253-1260
  • Tidskriftsartikel (refereegranskat)abstract
    • Here we describe the SweGen data set, a comprehensive map of genetic variation in the Swedish population. These data represent a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing information on genetic variant frequencies in a cohort that is well matched to national patient cohorts. To select samples for this study, we first examined the genetic structure of the Swedish population using high-density SNP-array data from a nation-wide cohort of over 10 000 Swedish-born individuals included in the Swedish Twin Registry. A total of 1000 individuals, reflecting a cross-section of the population and capturing the main genetic structure, were selected for whole-genome sequencing. Analysis pipelines were developed for automated alignment, variant calling and quality control of the sequencing data. This resulted in a genome-wide collection of aggregated variant frequencies in the Swedish population that we have made available to the scientific community through the website https://swefreq.nbis.se. A total of 29.2 million single-nucleotide variants and 3.8 million indels were detected in the 1000 samples, with 9.9 million of these variants not present in current databases. Each sample contributed with an average of 7199 individual-specific variants. In addition, an average of 8645 larger structural variants (SVs) were detected per individual, and we demonstrate that the population frequencies of these SVs can be used for efficient filtering analyses. Finally, our results show that the genetic diversity within Sweden is substantial compared with the diversity among continental European populations, underscoring the relevance of establishing a local reference data set.
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22.
  • Andersson, Anna, et al. (författare)
  • Gene expression profiling of leukemic cell lines reveals conserved molecular signatures among subtypes with specific genetic aberrations
  • 2005
  • Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 1476-5551 .- 0887-6924. ; 19:6, s. 1042-1050
  • Tidskriftsartikel (refereegranskat)abstract
    • Hematologic malignancies are characterized by fusion genes of biological/clinical importance. Immortalized cell lines with such aberrations are today widely used to model different aspects of leukemogenesis. Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14) [IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11) [PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11]. Unsupervised classification revealed that hematopoietic cell lines of diverse origin, but with the same primary genetic changes, segregated together, suggesting that pathogenetically important regulatory networks remain conserved despite numerous passages. Moreover, primary leukemias cosegregated with cell lines carrying identical genetic rearrangements, further supporting that critical regulatory pathways remain intact in hematopoietic cell lines. Transcriptional signatures correlating with clinical subtypes/primary genetic changes were identified and annotated based on their biological/molecular properties and chromosomal localization. Furthermore, the expression profile of tyrosine kinase-encoding genes was investigated, identifying several differentially expressed members, segregating with primary genetic changes, which may be targeted with tyrosine kinase inhibitors. The identified conserved signatures are likely to reflect regulatory networks of importance for the transforming abilities of the primary genetic changes and offer important pathogenetic insights as well as a number of targets for future rational drug design.
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23.
  • Andersson Cederholm, Erika, et al. (författare)
  • The seduction of an event : Hospitality in the regional innovation system
  • 2019
  • Ingår i: Fika, Hygge and Hospitality : The Cultural Complexity of Service Organisation in the Öresund Region - The Cultural Complexity of Service Organisation in the Öresund Region. - 9789170613029 ; :39, s. 131-150
  • Bokkapitel (refereegranskat)
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24.
  • Andersson, Fredrik, 1974, et al. (författare)
  • Computer Based Requirements and Concept Modelling - Information Gathering and Classification
  • 2000
  • Ingår i: 12th International Conference on Design Theory and Methodology. 2000 ASME International Design Engineering Technical Conferences.
  • Konferensbidrag (refereegranskat)abstract
    • This paper proposes a requirement and concept model based on a functional decomposition of mechanical systems. It is an object-oriented approach to integrate the representation of the design artefact and the design activity, through the decisions made during the design evolution. The requirements co-evolve simultaneously with the formation of the conceptual layout, through the opportunity to alter between function and physical/abstract solutions. This approach structures the design requirements and concepts in such a way that it supports the ability to document their sources, to allow for validation and verifications of both requirements and design solutions. First, the proposed model is presented from a theoretical viewpoint. Secondly, a methodology for modelling requirements and concepts in an object-oriented fashion is discussed. Finally, the model is implemented in METIS software and tested in a case study of an electric window winder on a truck door.
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25.
  • Andersson, Ulrika, et al. (författare)
  • PERson-centredness in Hypertension management using Information Technology: a randomized controlled trial in primary care
  • 2023
  • Ingår i: Journal of hypertension. - : LIPPINCOTT WILLIAMS & WILKINS. - 1473-5598 .- 0263-6352. ; 41:2, s. 246-253
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVES: To increase the proportion of individuals with hypertension obtaining a blood pressure (BP) of less than 140/90 mmHg by improving the management of hypertension in daily life from a person-centred perspective. METHODS: In this unblinded randomized controlled trial, we tested an interactive web-based self-management system for hypertension. A total of 949 patients with hypertension from 31 primary healthcare centres (PHCCs) in Sweden were randomized 1 : 1 to either the intervention or usual care group. The intervention included daily measurement - via the participant's mobile phone - of BP and pulse and reports of well being, symptoms, lifestyle, medication intake and side effects for eight consecutive weeks. It also included reminders and optional motivational messages. The primary outcome was the proportion of participants obtaining BP of less than 140/90 mmHg at 8 weeks and 12 months. Significance was tested by Pearson's chi 2 -test. RESULTS: A total of 862 patients completed the trial, 442 in the intervention group and 420 in the control group. The primary outcome (BP <140/90 mmHg) at 8 weeks was achieved by 48.8% in the intervention group and 39.9% in the control group ( P  = 0.006). At 12 months, 47.1% (intervention) and 41.0% (control group) had a BP less than 140/90 mmHg ( P  = 0.071). CONCLUSION: The proportion of participants with a controlled BP of less than 140/90 mmHg increased after using the interactive system for self-management of hypertension for 8 weeks compared with usual care. Although the trend continued, there was no significant difference after 12 months. The results indicate that the effect of the intervention is significant, but the long-term effect is uncertain. TRIAL REGISTRATION: The study was registered with ClinicalTrials.gov (NCT03554382).
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26.
  • Andersson, Ulrika, et al. (författare)
  • PERSON-CENTREDNESS IN HYPERTENSION MANAGEMENT USING INFORMATION TECHNOLOGY (PERHIT) : A RANDOMISED CONTROLLED TRIAL IN PRIMARY HEALTH CARE
  • 2022
  • Ingår i: Journal of Hypertension. - : Ovid Technologies (Wolters Kluwer Health). - 1473-5598 .- 0263-6352. ; 40, s. 197-197
  • Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
    • OBJECTIVE: Few studies address results from use of new technology and patient participation in hypertension management. The PERHIT Study is a multicentre randomised controlled trial with the aim to evaluate the effects of a person-centred approach using a web-based, interactive self-management system through the patient´s own mobile phone on blood-pressure and well-being. Primary aim is the degree of achieved blood pressure (BP) control after eight weeks and one year. In addition, person-centeredness, usefulness, daily life activities in relation to BP values, awareness of risk and health care costs are studied. DESIGN AND METHOD: The PERHIT study was performed in four regions in southern Sweden. Following inclusion, more than 900 patients from 31 primary health care centres were randomised to two groups. In the intervention group (INT), patients were provided with a web-based self-management support system including a home-BP monitor. For eight consecutive weeks, they measured BP and performed self-reports regarding well-being, symptoms, lifestyle, medication intake and side effects every evening via their mobile phone. They could also receive motivational messages and reminders throughout the intervention period. Both patients and professionals had access to graphic feedback of reported values through a secure web portal. Patients in the control (CON) group received standard treatment as usual. RESULTS: The primary outcome (BP < 140/90 mmHg) was achieved by 48.5% and 47.1% in the INT, and by 40.4% and 40.9% in the CON group after 8 weeks (p = 0.016) and 12 months (p = 0.067), respectively. Both patients and professionals experienced the system as a useful resource for communication regarding BP and lifestyle. They described that it could be used to support a constructive and person-centred partnership between patients and professionals. CONCLUSIONS: Blood pressure control was significantly better after eight weeks, but not after one year, following an intervention based on use of mobile phones, feedback and interaction between patients and primary care professionals compared to standard care. The system can be a tool toward a new way of working and help patients reach a controlled BP and play a role in a more person-centred and individually adapted hypertension management.
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27.
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28.
  • Andersson, Ulrika, et al. (författare)
  • Variability in home blood pressure and its association with renal function and pulse pressure in patients with treated hypertension in primary care
  • 2023
  • Ingår i: Journal of Human Hypertension. - : SPRINGERNATURE. - 0950-9240 .- 1476-5527.
  • Tidskriftsartikel (refereegranskat)abstract
    • Blood pressure variability (BPV) represents a cardiovascular risk factor, regardless of mean level of blood pressure (BP). In this post-hoc analysis from the PERson-centredness in Hypertension management using Information Technology (PERHIT) study, we aimed to explore BPV in daily home measurements in hypertensive patients from primary care, to identify factors associated with high BPV and to investigate whether estimated glomerular filtration rate (eGFR) and pulse pressure, as markers of target organ damage (TOD), are associated with BPV. For eight consecutive weeks, 454 participants reported their daily BP and heart rate in their mobile phone, along with reports of lifestyle and hypertension-related factors. Systolic BP (SBP) values were used to calculate BPV with coefficient of variation (CV) as primary estimate. Background characteristics and self-reports were tested between fifths of CV in a linear regression model, adjusted for age and sex. Associations between BPV and eGFR and pulse pressure were tested with linear and logistic regression models. Higher home BPV was associated with higher age, BP, heart rate, and smoking. BPV was lower for participants with low alcohol consumption and treatment with calcium channel blockers. There was a significant association between BPV and pulse pressure (P = 0.015), and between BPV and eGFR (P = 0.049). Participants with high BPV reported more dizziness and palpitations. In conclusion, pulse pressure and eGFR were significantly associated with home BPV. Older age, high BP, heart rate, and smoking were associated with high BPV, but treatment with calcium channel blockers and low alcohol consumption was associated with low BPV. Trial registration: The study was registered with ClinicalTrials.gov [NCT03554382].
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29.
  • Andréasson, Per Gunnar, et al. (författare)
  • Seve terranes of the Kebnekaise Mts., Swedish Caledonides, and their amalgamation, accretion and affinity
  • 2018
  • Ingår i: GFF. - : Informa UK Limited. - 1103-5897 .- 2000-0863. ; 140:3, s. 264-291
  • Tidskriftsartikel (refereegranskat)abstract
    • A major allochthon of the Scandinavian Caledonides, the Seve belt has traditionally been considered to be derived from the rifted margin and continent-ocean transition (COT) of Baltica. However, geochronological results obtained from its inferred northern equivalent, the Kalak Nappe Complex (KNC), have been taken to indicate an exotic affinity of this complex and of also Seve terranes, an interpretation adopted in recent palaeogeographic models. In the Kebnekaise Mts., the COT is represented by the Kebnekaise terrane composed of amphibolitized dykes of gabbro and dolerite of depleted magma source and rare felsic and ultramafic rocks. Coronitic dolerite and gabbro with abundant rutile suggest high pressures before or during amalgamation with the underlying Mårma terrane, composed of quartzofeldspathic gneisses intruded by mafic and granitic rocks, the latter including a previously dated c. 845 Ma-old granite. The granite mingled with mildly alkaline dolerites chemically similar to transitional basalts of continental rifts. Following emplacement at shallow (andalusite stability) crustal levels, the igneous complex and host rocks underwent extensive deformation, metamorphism within the sillimanite-kyanite stability field and local migmatization. The Kebnekaise and Mårma terranes amalgamated in early Ordovician as indicated by the U-Pb age of 487±7 Ma obtained from titanite fabrics of deformed granite in thrust vicinity, and by 40Ar-39Ar results. The pressure increase in both terranes suggests that amalgamation occurred during initial subduction and imbrication. Correlation of the Mårma terrane with the KNC is discussed. Results obtained in this study give no reason to ascribe an exotic affinity to the Seve terranes of the Kebnekaise Mts.
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30.
  • Arlos, Patrik, et al. (författare)
  • A Distributed Passive Measurement Infrastructure
  • 2005
  • Konferensbidrag (refereegranskat)abstract
    • In this paper we describe a distributed passive measurement infrastructure. Its goals are to reduce the cost and configuration effort per measurement. The infrastructure is scalable with regards to link speeds and measurement locations. A prototype is currently deployed at our university and a demo is online at http://inga.its.bth.se/projects/dpmi. The infrastructure differentiates between measurements and the analysis of measurements, this way the actual measurement equipment can focus on the practical issues of packet measurements. By using a modular approach the infrastructure can handle many different capturing devices. The infrastructure can also deal with the security and privacy aspects that might arise during measurements.
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