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Sökning: WFRF:(Wille Joakim)

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1.
  • Luthander, Rasmus, 1988- (författare)
  • Self-Consumption of Photovoltaic Electricity in Residential Buildings
  • 2018
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Worldwide installations of photovoltaics (PV) have increased rapidly due to national subsidies and decreasing prices. One important market segment is building-applied PV systems, for which the generated electricity can be self-consumed. Self-consumption is likely to become important both for the profitability and to facilitate integration of high shares of PV in the power system. The purpose of this doctoral thesis is to examine opportunities and challenges with distributed PV in the power system on four system levels: detached houses, communities, distribution systems and national level. This was done through literature studies and computer simulations. Previous research has shown a larger potential to increase the PV self-consumption in detached houses by using battery storage rather than shifting the household appliance loads. This thesis shows that, on the community level, the self-consumption increased more when sharing one large storage instead of individual storages in each house. On the distribution system level, PV power curtailment was identified as an effective solution to reduce the risk of overvoltage due to high PV penetration levels. However, the curtailment losses were high: up to 28% of the electricity production had to be curtailed in the studied distribution grid with a PV penetration of 100% of the yearly electricity consumption. However, the penetration of distributed PV on a national level is not likely to reach these levels. Around 12% of the Swedish households were estimated to have PV systems in 2040, although the uncertainties in the results were high, mainly related to the development of the electricity prices. The low profits from both PV but especially battery systems reduce future market shares. If residential batteries could also be used for primary frequency control, the profitability and thus the market shares for PV and battery systems could increase. The overall conclusions are that improved self-consumption can increase the profitability of PV systems and lower the negative impacts on grids with high PV penetration. Energy storage has a large potential to increase the self-consumption, but the profitability is still low for a storage that is only used to increase the self-consumption.     
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2.
  • Aartsen, M. G., et al. (författare)
  • Improved limits on dark matter annihilation in the Sun with the 79-string IceCube detector and implications for supersymmetry
  • 2016
  • Ingår i: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :4
  • Tidskriftsartikel (refereegranskat)abstract
    • We present an improved event-level likelihood formalism for including neutrino telescope data in global fits to new physics. We derive limits on spin-dependent dark matter-proton scattering by employing the new formalism in a re-analysis of data from the 79-string IceCube search for dark matter annihilation in the Sun, including explicit energy information for each event. The new analysis excludes a number of models in the weak-scale minimal supersymmetric standard model (MSSM) for the first time. This work is accompanied by the public release of the 79-string IceCube data, as well as an associated computer code for applying the new likelihood to arbitrary dark matter models.
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3.
  • Nilsson, Stefan, 1972, et al. (författare)
  • Evaluating pictorial support in person-centred care for children (PicPecc) : A protocol for a crossover design study
  • 2021
  • Ingår i: BMJ Open. - : BMJ Publishing Group Ltd. - 2044-6055. ; 11:5
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction This study protocol outlines the evaluation of the pictorial support in person-centred care for children (PicPecc). PicPecc is a digital tool used by children aged 5-17 years to self-report symptoms of acute lymphoblastic leukaemia, who undergo high-dose methotrexate treatments. The design of the digital platform follows the principles of universal design using pictorial support to provide accessibility for all children regardless of communication or language challenges and thus facilitating international comparison.Methods and analysis Both effect and process evaluations will be conducted. A crossover design will be used to measure the effect/outcome, and a mixed-methods design will be used to measure the process/implementation. The primary outcome in the effect evaluation will be self-reported distress. Secondary outcomes will be stress levels monitored via neuropeptides, neurosteroids and peripheral steroids indicated in plasma blood samples; frequency of in-app estimation of high levels of distress by the children; children's use of analgesic medicine and person centeredness evaluated via the questionnaire Visual CARE Measure. For the process evaluation, qualitative interviews will be carried out with children with cancer, their legal guardians and case-related healthcare professionals. These interviews will address experiences with PicPecc in terms of feasibility and frequency of use from the child's perspective and value to the caseworker. Interview transcripts will be analysed using an interpretive description methodology.Ethics and dissemination Ethical approval was obtained from the Swedish Ethical Review Authority (reference 2019-02392; 2020-02601; 2020-06226). Children, legal guardians, healthcare professionals, policymaking and research stakeholders will be involved in all stages of the research process according to Medical Research Council's guidelines. Research findings will be presented at international cancer and paediatric conferences and published in scientific journals.Trial registration ClinicalTrials.gov; NCT04433650. 
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4.
  • Tesi, Bianca, et al. (författare)
  • Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors : a nationwide, prospective Swedish study
  • 2024
  • Ingår i: The Lancet Regional Health. - : Elsevier. - 2666-7762. ; 39
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundChildhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood cancer development. Yet, due to variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective ChiCaP study that investigated diagnostic yield and clinical impact of integrating germline whole-genome sequencing (gWGS) with tumor sequencing and systematic phenotyping in children with solid tumors.MethodsgWGS was performed in 309 children at diagnosis of CNS (n = 123, 40%) or extracranial (n = 186, 60%) solid tumors and analyzed for disease-causing variants in 189 known cancer predisposing genes. Tumor sequencing data were available for 74% (227/309) of patients. In addition, a standardized clinical assessment for underlying predisposition was performed in 95% (293/309) of patients.FindingsThe prevalence of ChiCaP diagnoses was 11% (35/309), of which 69% (24/35) were unknown at inclusion (diagnostic yield 8%, 24/298). A second-hit and/or relevant mutational signature was observed in 19/21 (90%) tumors with informative data. ChiCaP diagnoses were more prevalent among patients with retinoblastomas (50%, 6/12) and high-grade astrocytomas (37%, 6/16), and in those with non-cancer related features (23%, 20/88), and ≥2 positive ChiCaP criteria (28%, 22/79). ChiCaP diagnoses were autosomal dominant in 80% (28/35) of patients, yet confirmed de novo in 64% (18/28). The 35 ChiCaP findings resulted in tailored surveillance (86%, 30/35) and treatment recommendations (31%, 11/35).InterpretationOverall, our results demonstrate that systematic phenotyping, combined with genomics-based diagnostics of ChiCaP in children with solid tumors is feasible in large-scale clinical practice and critically guides personalized care in a sizable proportion of patients.
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5.
  • Wadensten, Elisabeth, et al. (författare)
  • Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.
  • 2023
  • Ingår i: JCO Precision Oncology (JCO PO). - : American Society of Clinical Oncology. - 2473-4284. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • Several studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in selected high-risk cases. However, the extent to which such characterization offers clinically actionable data in a prospective broadly inclusive setting remains largely unexplored.We implemented prospective whole-genome sequencing (WGS) of tumor and germline, complemented by whole-transcriptome sequencing (RNA-Seq) for all children diagnosed with a primary or relapsed solid malignancy in Sweden. Multidisciplinary molecular tumor boards were set up to integrate genomic data in the clinical decision process along with a medicolegal framework enabling secondary use of sequencing data for research purposes.During the study's first 14 months, 118 solid tumors from 117 patients were subjected to WGS, with complementary RNA-Seq for fusion gene detection in 52 tumors. There was no significant geographic bias in patient enrollment, and the included tumor types reflected the annual national incidence of pediatric solid tumor types. Of the 112 tumors with somatic mutations, 106 (95%) exhibited alterations with a clear clinical correlation. In 46 of 118 tumors (39%), sequencing only corroborated histopathological diagnoses, while in 59 cases (50%), it contributed to additional subclassification or detection of prognostic markers. Potential treatment targets were found in 31 patients (26%), most commonly ALK mutations/fusions (n = 4), RAS/RAF/MEK/ERK pathway mutations (n = 14), FGFR1 mutations/fusions (n = 5), IDH1 mutations (n = 2), and NTRK2 gene fusions (n = 2). In one patient, the tumor diagnosis was revised based on sequencing. Clinically relevant germline variants were detected in 8 of 94 patients (8.5%).Up-front, large-scale genomic characterization of pediatric solid malignancies provides diagnostically valuable data in the majority of patients also in a largely unselected cohort.
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6.
  • Wadensten, Elisabeth, et al. (författare)
  • Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
  • 2023
  • Ingår i: JCO Precision Oncology. - : American Society of Clinical Oncology. - 2473-4284. ; :7
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Several studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in selected high-risk cases. However, the extent to which such characterization offers clinically actionable data in a prospective broadly inclusive setting remains largely unexplored.Methods: We implemented prospective whole-genome sequencing (WGS) of tumor and germline, complemented by whole-transcriptome sequencing (RNA-Seq) for all children diagnosed with a primary or relapsed solid malignancy in Sweden. Multidisciplinary molecular tumor boards were set up to integrate genomic data in the clinical decision process along with a medicolegal framework enabling secondary use of sequencing data for research purposes.Results: During the study's first 14 months, 118 solid tumors from 117 patients were subjected to WGS, with complementary RNA-Seq for fusion gene detection in 52 tumors. There was no significant geographic bias in patient enrollment, and the included tumor types reflected the annual national incidence of pediatric solid tumor types. Of the 112 tumors with somatic mutations, 106 (95%) exhibited alterations with a clear clinical correlation. In 46 of 118 tumors (39%), sequencing only corroborated histopathological diagnoses, while in 59 cases (50%), it contributed to additional subclassification or detection of prognostic markers. Potential treatment targets were found in 31 patients (26%), most commonly ALK mutations/fusions (n = 4), RAS/RAF/MEK/ERK pathway mutations (n = 14), FGFR1 mutations/fusions (n = 5), IDH1 mutations (n = 2), and NTRK2 gene fusions (n = 2). In one patient, the tumor diagnosis was revised based on sequencing. Clinically relevant germline variants were detected in 8 of 94 patients (8.5%).Conclusion: Up-front, large-scale genomic characterization of pediatric solid malignancies provides diagnostically valuable data in the majority of patients also in a largely unselected cohort.
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7.
  • Yasui, Hiroaki, et al. (författare)
  • A dynamic mutational landscape associated with an inter-regionally diverse immune response in malignant rhabdoid tumour
  • 2020
  • Ingår i: Journal of Pathology. - : Wiley. - 0022-3417 .- 1096-9896. ; 252:1, s. 22-28
  • Tidskriftsartikel (refereegranskat)abstract
    • Malignant rhabdoid tumour (MRT) is a childhood neoplasm of high malignancy characterised by biallelic mutation and/or loss of the epigenetic master regulator SMARCB1, accompanied by no or few other oncogenic drivers. In spite of their generally low mutational burden, an intratumoural T-cell response has been reported in a subset of MRTs, indicating that immune checkpoint inhibition may be considered a viable therapy option for some patients. We assess here the evolution over time and space of predicted neoantigens and indicators of immune checkpoint status in two MRT patients who progressed under treatment. Both patients showed an accumulation of novel clonal and subclonal mutations, including predicted neoantigens, in metastases compared to their inferred ancestral clones in the primary tumours. The first patient had peritoneal metastases from an MRT of the liver. Clonal deconvolution revealed polyclonal seeding from the primary tumour to a single metastatic site, followed by a local subclonal burst of mutations. The second patient had a renal MRT with multiple pulmonary metastases, each of which could be traced back to a single genetically unique founder cell, with formation of novel subclones in two metastases. Both patients showed a regionally heterogeneous landscape of predicted neoantigens and of tumour-infiltrating lymphocytes expressing CD8 and PD1. In both patients, some tumour regions fulfilled established criteria for PD-L1 positivity (> 1% of tumour cells), while others did not. This suggests that even in a tumour type like MRT, with a single driver mutation, there can be heterogeneity in neoantigen repertoire, immune response, and biomarkers for checkpoint blockade among sampled locations. This must be taken into account when assessing progressed MRT patients for checkpoint inhibition therapy.
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