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Sökning: WFRF:(Schwarz Stefan) > (2020-2024)

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1.
  • Menkveld, Albert J., et al. (författare)
  • Nonstandard Errors
  • 2024
  • Ingår i: JOURNAL OF FINANCE. - : Wiley-Blackwell. - 0022-1082 .- 1540-6261. ; 79:3, s. 2339-2390
  • Tidskriftsartikel (refereegranskat)abstract
    • In statistics, samples are drawn from a population in a data-generating process (DGP). Standard errors measure the uncertainty in estimates of population parameters. In science, evidence is generated to test hypotheses in an evidence-generating process (EGP). We claim that EGP variation across researchers adds uncertainty-nonstandard errors (NSEs). We study NSEs by letting 164 teams test the same hypotheses on the same data. NSEs turn out to be sizable, but smaller for more reproducible or higher rated research. Adding peer-review stages reduces NSEs. We further find that this type of uncertainty is underestimated by participants.
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2.
  • Broadaway, K Alaine, et al. (författare)
  • Loci for insulin processing and secretion provide insight into type 2 diabetes risk.
  • 2023
  • Ingår i: American Journal of Human Genetics. - : Elsevier. - 0002-9297 .- 1537-6605. ; 110:2, s. 284-299
  • Tidskriftsartikel (refereegranskat)abstract
    • Insulin secretion is critical for glucose homeostasis, and increased levels of the precursor proinsulin relative to insulin indicate pancreatic islet beta-cell stress and insufficient insulin secretory capacity in the setting of insulin resistance. We conducted meta-analyses of genome-wide association results for fasting proinsulin from 16 European-ancestry studies in 45,861 individuals. We found 36 independent signals at 30 loci (p value < 5 × 10-8), which validated 12 previously reported loci for proinsulin and ten additional loci previously identified for another glycemic trait. Half of the alleles associated with higher proinsulin showed higher rather than lower effects on glucose levels, corresponding to different mechanisms. Proinsulin loci included genes that affect prohormone convertases, beta-cell dysfunction, vesicle trafficking, beta-cell transcriptional regulation, and lysosomes/autophagy processes. We colocalized 11 proinsulin signals with islet expression quantitative trait locus (eQTL) data, suggesting candidate genes, including ARSG, WIPI1, SLC7A14, and SIX3. The NKX6-3/ANK1 proinsulin signal colocalized with a T2D signal and an adipose ANK1 eQTL signal but not the islet NKX6-3 eQTL. Signals were enriched for islet enhancers, and we showed a plausible islet regulatory mechanism for the lead signal in the MADD locus. These results show how detailed genetic studies of an intermediate phenotype can elucidate mechanisms that may predispose one to disease.
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3.
  • Reid, Cameron J, et al. (författare)
  • A role for ColV plasmids in the evolution of pathogenic Escherichia coli ST58
  • 2022
  • Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 13
  • Tidskriftsartikel (refereegranskat)abstract
    • Escherichia coli ST58 has recently emerged as a globally disseminated uropathogen that often progresses to sepsis. Unlike most pandemic extra-intestinal pathogenic E. coli (ExPEC), which belong to pathogenic phylogroup B2, ST58 belongs to the environmental/commensal phylogroup B1. Here, we present a pan-genomic analysis of a global collection of 752 ST58 isolates from diverse sources. We identify a large ST58 sub-lineage characterized by near ubiquitous carriage of ColV plasmids, which carry genes encoding virulence factors, and by a distinct accessory genome including genes typical of the Yersiniabactin High Pathogenicity Island. This sub-lineage includes three-quarters of all ExPEC sequences in our study and has a broad host range, although poultry and porcine sources predominate. By contrast, strains isolated from cattle often lack ColV plasmids. Our data indicate that ColV plasmid acquisition contributed to the divergence of the major ST58 sub-lineage, and different sub-lineages inhabit poultry, swine and cattle.
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4.
  • Williamson, Alice, et al. (författare)
  • Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake
  • 2023
  • Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 55:6, s. 973-983
  • Tidskriftsartikel (refereegranskat)abstract
    • Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states. Previous genetic studies have largely focused on insulin resistance in the fasting state, where hepatic insulin action dominates. Here we studied genetic variants influencing insulin levels measured 2 h after a glucose challenge in >55,000 participants from three ancestry groups. We identified ten new loci (P < 5 × 10-8) not previously associated with postchallenge insulin resistance, eight of which were shown to share their genetic architecture with type 2 diabetes in colocalization analyses. We investigated candidate genes at a subset of associated loci in cultured cells and identified nine candidate genes newly implicated in the expression or trafficking of GLUT4, the key glucose transporter in postprandial glucose uptake in muscle and fat. By focusing on postprandial insulin resistance, we highlighted the mechanisms of action at type 2 diabetes loci that are not adequately captured by studies of fasting glycemic traits.
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5.
  • Andersson Schwarz, Jonas, et al. (författare)
  • DN Debatt. ”Pandemi-appar kan bli hot mot personliga integriteten”
  • 2020
  • Ingår i: Dagens nyheter (DN debatt). - 1101-2447.
  • Tidskriftsartikel (populärvet., debatt m.m.)abstract
    • Tre digitaliseringsforskare: Dataspårning måste vara transparent och ha nödvändiga ramar för ansvarsutkrävande och nedmontering efteråt.När myndigheter i en kris vill samla in spårningsdata om medborgare måste vi säkerställa nivåerna och omfattningen på ett tydligt och demokratiskt försvarbart sätt.
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7.
  • Calabrese, Claudia, et al. (författare)
  • Genomic basis for RNA alterations in cancer
  • 2020
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 578:7793, s. 129-136
  • Tidskriftsartikel (refereegranskat)abstract
    • Transcript alterations often result from somatic changes in cancer genomes1. Various forms of RNA alterations have been described in cancer, including overexpression2, altered splicing3 and gene fusions4; however, it is difficult to attribute these to underlying genomic changes owing to heterogeneity among patients and tumour types, and the relatively small cohorts of patients for whom samples have been analysed by both transcriptome and whole-genome sequencing. Here we present, to our knowledge, the most comprehensive catalogue of cancer-associated gene alterations to date, obtained by characterizing tumour transcriptomes from 1,188 donors of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA)5. Using matched whole-genome sequencing data, we associated several categories of RNA alterations with germline and somatic DNA alterations, and identified probable genetic mechanisms. Somatic copy-number alterations were the major drivers of variations in total gene and allele-specific expression. We identified 649 associations of somatic single-nucleotide variants with gene expression in cis, of which 68.4% involved associations with flanking non-coding regions of the gene. We found 1,900 splicing alterations associated with somatic mutations, including the formation of exons within introns in proximity to Alu elements. In addition, 82% of gene fusions were associated with structural variants, including 75 of a new class, termed 'bridged' fusions, in which a third genomic location bridges two genes. We observed transcriptomic alteration signatures that differ between cancer types and have associations with variations in DNA mutational signatures. This compendium of RNA alterations in the genomic context provides a rich resource for identifying genes and mechanisms that are functionally implicated in cancer.
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9.
  • Dahlberg, Stefan, et al. (författare)
  • A Distributional Semantic Online Lexicon for Linguistic Explorations of Societies
  • 2023
  • Ingår i: Social Science Computer Review. - : SAGE Publications. - 0894-4393 .- 1552-8286. ; 41:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Linguistic Explorations of Societies (LES) is an interdisciplinary research project with scholars from the fields of political science, computer science, and computational linguistics. The overarching ambition of LES has been to contribute to the survey-based comparative scholarship by compiling and analyzing online text data within and between languages and countries. To this end, the project has developed an online semantic lexicon, which allows researchers to explore meanings and usages of words in online media across a substantial number of geo-coded languages. The lexicon covers data from approximately 140 language-country combinations and is, to our knowledge, the most extensive free research resource of its kind. Such a resource makes it possible to critically examine survey translations and identify discrepancies in order to modify and improve existing survey methodology, and its unique features further enable Internet researchers to study public debate online from a comparative perspective. In this article, we discuss the social scientific rationale for using online text data as a complement to survey data, and present the natural language processing-based methodology behind the lexicon including its underpinning theory and practical modeling. Finally, we engage in a critical reflection about the challenges of using online text data to gauge public opinion and political behavior across the world.
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10.
  • Hompland, Ivar, et al. (författare)
  • Outcome in dedifferentiated chondrosarcoma for patients treated with multimodal therapy : Results from the EUROpean Bone Over 40 Sarcoma Study
  • 2021
  • Ingår i: European Journal of Cancer. - : Elsevier BV. - 0959-8049. ; 151, s. 150-158
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: The role of chemotherapy for patients with dedifferentiated chondrosarcoma (DDCS) is still under discussion. Here, we present the outcome in patients with DDCS treated with intensive chemotherapy from the EUROpean Bone Over 40 Sarcoma Study. Materials and methods: The chemotherapy regimen included doxorubicin, ifosfamide and cisplatin. Postoperative methotrexate was added in case of poor histological response. Toxicity was graded based on the National Cancer Institute expanded common toxicity criteria, version 2.0, and survival was analysed using Kaplan-Meier curves, log-rank tests and univariate Cox regression models. Results: Fifty-seven patients with DDCS (localised, 34 [60%]; metastatic, 23 [40%]) aged 42–65 years were included. Surgical complete remission (SCR) was achieved in 36 (63%) patients. The median overall survival (OS) was 24 months (95% confidence interval, 22–25), and the 5-year OS was 39%. Patients with extremity localisation had a 5-year OS of 49% compared with 29% in patients with a central tumour (P = 0.08). Patients with localised disease had a 5-year OS of 46%, whereas patients with metastatic disease had a 5-year OS of 29% (P = 0.12). Patients in SCR had a 5-year OS of 49%, whereas patients not in SCR had a 5-year OS of 23% (P = 0.004). Chemotherapy toxicity was considerable but manageable. There was no treatment-related death, and 39 (70%) patients received ≥6 cycles of the planned nine chemotherapy cycles. Conclusions: Adding intensive chemotherapy to surgery for treatment of DDCS is feasible and shows favourable survival data compared with previous reports. With the limitations of data from a non-controlled trial, we conclude that chemotherapy could be considered in the management of patients aged >40 years.
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11.
  • Huang, Zeyu, et al. (författare)
  • Optimal Phasors for Wideband RIS Transmissions
  • 2023
  • Ingår i: 2023 IEEE Conference on Antenna Measurements and Applications, CAMA 2023. - 2474-1760 .- 2643-6795. - 9798350323047 ; , s. 250-254
  • Konferensbidrag (refereegranskat)abstract
    • Configuring reconfigurable intelligent surfaces (RISs) based on a practical RIS model is a fundamental problem in RIS-assisted wireless transmission. In this work, we propose a concept named optimal phasor (OP), a latent quantity that can considerably help the practical model-based RIS configuration. Under such a concept, we can design versatile algorithms that are applicable to different RIS models. As an example, we formulate the optimization problem of frequency selectivity reduction and develop an OP-based algorithm, allowing us to reach a remarkable performance based on the practical one-bit RIS model.
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12.
  • Human-Centred AI in the EU : Trustworthiness as a strategic priority in the European Member States
  • 2020
  • Samlingsverk (redaktörskap) (övrigt vetenskapligt/konstnärligt)abstract
    • The European approach to artificial intelligence (AI) points to ethical considerations, human control and trustworthiness as its core tenets. But how clearly is this approach reflected in the Member States’ strategies?This anthology analyses to what extent the notions of ethical and trustworthy AI, presented by the High-Level Expert Group on Artificial Intelligence and the European Commission, have influenced AI strategies in Portugal, The Netherlands, Italy, the Czech Republic, Poland, Norway as well as the Nordics overall.It is clear that the EU-level policies have had an impact on the national level strategies, although sometimes only to the extent that they were published before the national documents. For instance, while some countries, such as Norway and Portugal, have explicitly incorporated aspects from the Ethics Guidelines, others, such as the Nordics, already tended to include questions of trust and transparency, or on ethics as in the case of Poland.The EU has emphasised AI trustworthiness as both an ethical imperative and competitive advantage. However, implementation is still at the starting line: much depends on alignment between this diverse group of nations, with different priorities, within the single market.
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13.
  • Lagou, Vasiliki, et al. (författare)
  • Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability
  • 2021
  • Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 12:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.
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15.
  • Monje, Alberto, et al. (författare)
  • Strategies for implant surface decontamination in peri-implantitis therapy
  • 2022
  • Ingår i: International journal of oral implantology. - : QUINTESSENCE PUBLISHING CO INC. - 2631-6420 .- 2631-6439. ; 15:3, s. 213-249
  • Forskningsöversikt (refereegranskat)abstract
    • Peri-implantitis is an infectious disease that leads to progressive bone loss. Surgical therapy has been advocated as a way of halting its progression and re-establishing peri-implant health. One of the most challenging but crucial tasks in the management of peri-implantitis is biofilm removal to achieve reosseointegration and promote the reduction of peri-implant pockets. A wide var-iety of strategies have been used for implant surface decontamination. Mechanical means have been demonstrated to be effective in eliminating calculus deposits and residual debris; however, the presence of undercuts and the grooves and porosities along the roughened implant surface make it difficult to achieve an aseptic surface. In conjunction with mechanical measures, use of chemical adjuncts has been advocated to dilute bacterial concentrations, destroy the bacteria's organic components and eliminate endotoxins. Pharmacological adjuncts have also been recommended to diminish the bacterial load. Other strategies, such as use of lasers, implantoplasty and electrolysis, have been suggested for implant surface decontamination to promote predictable clinical and radiographic outcomes.
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16.
  • 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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17.
  • Schwarz, Julian, et al. (författare)
  • Sharing Clinical Notes and Electronic Health Records With People Affected by Mental Health Conditions : Scoping Review
  • 2021
  • Ingår i: JMIR Mental Health. - : JMIR Publications. - 2368-7959. ; 8:12
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Electronic health records (EHRs) are increasingly implemented internationally, whereas digital sharing of EHRs with service users (SUs) is a relatively new practice. Studies of patient-accessible EHRs (PAEHRs)-often referred to as open notes-have revealed promising results within general medicine settings. However, studies carried out in mental health care (MHC) settings highlight several ethical and practical challenges that require further exploration.Objective: This scoping review aims to map available evidence on PAEHRs in MHC. We seek to relate findings with research from other health contexts, to compare different stakeholders' perspectives, expectations, actual experiences with PAEHRs, and identify potential research gaps.Methods: A systematic scoping review was performed using 6 electronic databases. Studies that focused on the digital sharing of clinical notes or EHRs with people affected by mental health conditions up to September 2021 were included. The Mixed Methods Appraisal Tool was used to assess the quality of the studies. The PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) Extension for Scoping Reviews guided narrative synthesis and reporting of findings.Results: Of the 1034 papers screened, 31 were included in this review. The studies used mostly qualitative methods or surveys and were predominantly published after 2018 in the United States. PAEHRs were examined in outpatient (n=29) and inpatient settings (n=11), and a third of all research was conducted in Veterans Affairs Mental Health. Narrative synthesis allowed the integration of findings according to the different stakeholders. First, SUs reported mainly positive experiences with PAEHRs, such as increased trust in their clinician, health literacy, and empowerment. Negative experiences were related to inaccurate notes, disrespectful language use, or uncovering of undiscussed diagnoses. Second, for health care professionals, concerns outweigh the benefits of sharing EHRs, including an increased clinical burden owing to more documentation efforts and possible harm triggered by reading the notes. Third, care partners gained a better understanding of their family members' mental problems and were able to better support them when they had access to their EHR. Finally, policy stakeholders and experts addressed ethical challenges and recommended the development of guidelines and trainings to better prepare both clinicians and SUs on how to write and read notes.Conclusions: PAEHRs in MHC may strengthen user involvement, patients' autonomy, and shift medical treatment to a coproduced process. Acceptance issues among health care professionals align with the findings from general health settings. However, the corpus of evidence on digital sharing of EHRs with people affected by mental health conditions is limited. Above all, further research is needed to examine the clinical effectiveness, efficiency, and implementation of this sociotechnical intervention.
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18.
  • Söderlund, Kasia, et al. (författare)
  • AI policy in Poland : Ethical considerations already at the core
  • 2020
  • Ingår i: Human-Centred AI in the EU : Trustworthiness as a strategic priority in the European Member States - Trustworthiness as a strategic priority in the European Member States. - 9789187379819 ; , s. 66-84
  • Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
    • The chapter outlines the main stages of development of AI strategy in Poland, focusing on three significant documents: Considerationsfor AI Strategy in Poland (November 2018), Policy for Development of AIin Poland for the years 2019-2027 (August 2019) and the draft Policy forDevelopment of AI in Poland from year 2020 (September 2020). At themoment of writing, the latter document has been adopted by the PolishCommittee of the Council of Ministers for Digitisation and is still subject to the ongoing legislative process. It should therefore be noted thatthe final shape of the Polish AI strategy may differ to some extent fromthe one analysed in this chapter. The report was prepared through analysis and comparison of the above documents, with a few references topreparatory documents and official governmental websites. What follows is a deeper analysis of the second draft of the AI nationalstrategy, Policy for Development of AI in Poland from year 2020, withregard to how the following points of interests were interpreted andincorporated: definition, funding and investments, applications, data,the country’s identified characteristics and strengths, innovation, law,education, consumers, SMEs, environment and inequality. The strategysets out objectives which Poland is planning to achieve in the shortterm (until 2023), medium-term (until 2027), and long-term (beyond2027). It is divided into five subject areas: society, innovative companies, science, education, international cooperation and public sector,and consists mainly of action points on different levels of detail.The analysis in this chapter of the drafted AI strategy shows that theethical component – especially the EU’s and OECD’s concepts of trustworthy AI – played an important role in shaping the strategy. It is alsonoted that ethical principles were already reflected to a high degree inthe first document, Considerations for AI Strategy in Poland, which suggests that the ethical dimension of AI has been taken seriously by Polishpolicymakers throughout the legislative process.
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19.
  • Wiljén, Angelica, et al. (författare)
  • The development of a mHealth tool for children with long-term illness to enable person-centred communication : a co-design approach
  • 2021
  • Ingår i: Quality of Life Research. - : SPRINGER. - 0962-9343 .- 1573-2649. ; 30:SUPPL 1, 1, SI
  • Tidskriftsartikel (refereegranskat)abstract
    • Background:Children with long-term illnesses frequently experience symptoms that could negatively affect their daily lives. These symptoms are often underreported in health care. Despite a large number of mobile health (mHealth) tools, few are based on a theoretical framework or supported by scientific knowledge. Incorporating universal design when developing a product can promote accessibility and facilitate person-centered communication.Objective: The aim of this study is to identify the symptom-reporting needs of children with cancer and congenital heart defects that could be satisfied by using a mobile app. Another aim is to evaluate how the child might interact with the app by considering universal design principles and to identify parents’ views and health care professionals’ expectations and requirements for an mHealth tool.Methods: User-centered design is an iterative process that focuses on an understanding of the users. The adapted user-centered design process includes 2 phases with 4 stages. Phase 1 involved interviews with 7 children with long-term illnesses, 8 parents, and 19 health care professionals to determine their needs and wishes for support; a workshop with 19 researchers to deepen our understanding of the needs; and a workshop with developers to establish a preliminary tool to further investigate needs and behaviors. Phase 2 involved interviews with 10 children with long-term illnesses, 9 parents, and 21 health care professionals to evaluate the mock-up (prototype) of the mHealth tool. Data were synthesized using the interpretive description technique.Results:A total of 4 aspects of needs emerged from the synthesis of the data, as follows: different perspectives on provided and perceived support; the need for an easy-to-use, non–clinic-based tool to self-report symptoms and to facilitate communication; the need for safety by being in control and reaching the child’s voice; and a way of mapping the illness journey to facilitate recall and improve diagnostics. The children with long-term illnesses expressed a need to not only communicate about pain but also communicate about anxiety, fatigue, fear, and nausea.Conclusions: The findings of this study indicated that the PicPecc (Pictorial Support in Person-Centered Care for Children) app is a potential solution for providing communicative support to children with long-term illnesses dealing with multiple symptoms and conditions. The interview data also highlighted symptoms that are at risk of being overlooked if they are not included in the mobile app. Further studies are needed to include usability testing and evaluation in hospitals and home care settings.
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