| 1. |
- Marincevic-Zuniga, Yanara, et al.
(författare)
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Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles
- 2017
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Ingår i: Journal of Hematology & Oncology. - : Springer Science and Business Media LLC. - 1756-8722. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Background: Structural chromosomal rearrangements that lead to expressed fusion genes are a hallmark of acute lymphoblastic leukemia (ALL). In this study, we performed transcriptome sequencing of 134 primary ALL patient samples to comprehensively detect fusion transcripts. Methods: We combined fusion gene detection with genome-wide DNA methylation analysis, gene expression profiling, and targeted sequencing to determine molecular signatures of emerging ALL subtypes. Results: We identified 64 unique fusion events distributed among 80 individual patients, of which over 50% have not previously been reported in ALL. Although the majority of the fusion genes were found only in a single patient, we identified several recurrent fusion gene families defined by promiscuous fusion gene partners, such as ETV6, RUNX1, PAX5, and ZNF384, or recurrent fusion genes, such as DUX4-IGH. Our data show that patients harboring these fusion genes displayed characteristic genome-wide DNA methylation and gene expression signatures in addition to distinct patterns in single nucleotide variants and recurrent copy number alterations. Conclusion: Our study delineates the fusion gene landscape in pediatric ALL, including both known and novel fusion genes, and highlights fusion gene families with shared molecular etiologies, which may provide additional information for prognosis and therapeutic options in the future.
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| 2. |
- Aho Fält, Ursula, et al.
(författare)
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Percutaneous tibial nerve stimulation - PTNS: an alternative treatment option for chronic therapy resistant anal fissure
- 2019
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Ingår i: Techniques in Coloproctology. - : Springer Science and Business Media LLC. - 1123-6337 .- 1128-045X. ; 23:4, s. 361-365
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundThe aim of the present study was to evaluate percutaneous tibial nerve stimulation (PTNS) for treatment resistant chronic anal fissure.MethodsConsecutive patients with chronic anal fissure were treated with neuromodulation via the posterior tibial nerve between October 2013 and January 2014. Patients had PTNS for 30 min on 10 consecutive days. All patients had failed conventional medical treatment. The visual analogue scale (VAS) score, St. Marks score, Wexner’s constipation score, Brief Pain Inventory (BPI-SF), bleeding and mucosal healing were evaluated before treatment, at termination, after 3 months, and then yearly for 3 years.ResultsTen patients (4 males and 6 females; mean age 49.8 years) were identified but only 9 were evaluated as one patient’s fissure healed before PTNS was started. At 3-year follow-up, fissures had remained completely healed in 5 out of 9 patients. All patients stopped bleeding and were almost completely pain-free at 3 years (VAS p = 0.010) and pain relief improved from 50% at completion to 90% at 3 years. The patients’ Wexner constipation scores improved significantly (p = 0.007).ConclusionsIn this small series, PTNS enhanced healing of chronic anal fissure and reduced pain and bleeding with an associated improvement in bowel function.
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| 3. |
- Amer-Wåhlin, Isis, et al.
(författare)
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Slutrapport för EVIDIGVO
- 2024
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Den här texten presenterar resultat från tre aktiviteter för kunskapsinsamling om implementering av digitala verktyg inom vård- och omsorg: en litteratursammanställning, en workshopserie i två delar och en enkätundersökning. Den primära målgruppen har varit verksamhetsutvecklare och projektledare i regioner och kommuner. Antalet svarande i enkätstudien var för lågt för att kunna dra några statistiska slutsatser, men resultatet kan, tillsammans med workshopserien, ändå användas för att identifiera områden där det verkar finnas utmaningar. Både litteratursammanställningen och enkätundersökningen pekar på ett behov av att utveckla strukturerade utvärderingsmodeller för implementering. Även under workshoppen diskuterades den bristande förmågan att ”samla in evidens under projektens gång”, och det fanns en önskan om att ett sådant arbetssätt skulle utvecklas. Enkäten och workshoppen pekar även på flera återkommande problem under implementeringsprojekts olika faser. I den inledande fasen efterfrågas bättre analyser och förankringsarbete. Analyser med användarfokus missas speciellt ofta, så som användarresa, hållbarhetsanalys och intressent- och behovsanalys. Även i andra ändan av processen, då system och arbetssätt ska avvecklas, finns utmaningar och förbättringsförslag, t.ex. saknas ofta beslut om utfasning av gamla lösningar, och ett förslag är att man redan när man skriver kontakt med en leverantör ska säkerställa att leverantören hjälper till med migrering vid utfasning. En annan genomgående problematik är osäkerhet, och ibland avsaknad, av roller, ansvar och kommunikation. Detta handlar om att man inte riktigt vet varför man ska göra saker, eller att verksamheten och personerna som ska göra förändringen inte är tillräckligt inblandade. Det kan också handla om att support och förvaltning inte är tillräckligt väl utvecklat, och om att man inte vet hur man kan samarbeta med leverantörer. Här identifieras även förändringsledning som ett viktigt verktyg för att underlätta en god implementering.
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| 4. |
- Callaghan, Terry, et al.
(författare)
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Multi-Decadal Changes in Tundra Environments and Ecosystems : Synthesis of the International Polar Year-Back to the Future Project (IPY-BTF)
- 2011
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Ingår i: Ambio. - : Springer Science and Business Media LLC. - 0044-7447 .- 1654-7209. ; 40:6, s. 705-716
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Tidskriftsartikel (refereegranskat)abstract
- Understanding the responses of tundra systemsto global change has global implications. Most tundraregions lack sustained environmental monitoring and oneof the only ways to document multi-decadal change is toresample historic research sites. The International PolarYear (IPY) provided a unique opportunity for such researchthrough the Back to the Future (BTF) project (IPY project#512). This article synthesizes the results from 13 paperswithin this Ambio Special Issue. Abiotic changes includeglacial recession in the Altai Mountains, Russia; increasedsnow depth and hardness, permafrost warming, andincreased growing season length in sub-arctic Sweden;drying of ponds in Greenland; increased nutrient availabilityin Alaskan tundra ponds, and warming at mostlocations studied. Biotic changes ranged from relativelyminor plant community change at two sites in Greenland tomoderate change in the Yukon, and to dramatic increasesin shrub and tree density on Herschel Island, and in subarcticSweden. The population of geese tripled at one sitein northeast Greenland where biomass in non-grazed plotsdoubled. A model parameterized using results from a BTFstudy forecasts substantial declines in all snowbeds andincreases in shrub tundra on Niwot Ridge, Colorado overthe next century. In general, results support and provideimproved capacities for validating experimental manipulation,remote sensing, and modeling studies.
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| 5. |
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| 6. |
- Dahlberg, Karuna, 1979-, et al.
(författare)
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The effect of COVID-19 pandemic on perioperative factors : data from the Swedish Perioperative Register
- 2023
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Ingår i: Perioperative Medicine. - : BioMed Central (BMC). - 2047-0525. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The COVID-19 pandemic has affected healthcare organizations in many areas. The aim of this study was to describe surgical interventions, anesthesia, and postoperative outcomes in adult patients during the first wave and 1 year into the COVID-19 pandemic in Sweden, and to compare these outcomes with outcomes during the same period the year before the pandemic.METHODS: Data were collected from the Swedish PeriOperative Register, and included 417, 233 perioperative registration of patients ≥ 18 years old between period 1 (March-June 2019), period 2 (March-June 2020), and period 3 (March-June 2021).RESULTS: Compared with pre-pandemic (period 1), the number of surgical interventions decreased by 28% in the first wave (period 2); 1 year into the pandemic (period 3), the number of interventions was still 7.5% lower than pre-pandemic. The largest drops between periods 1 and 2 were noted in the specialties of ear, nose, and larynx surgery, - 55.6%; teeth, jaws, mouth, and pharynx surgery, - 45.0%; endocrine system surgery, - 38.8%. The number of acute surgeries remained stable during all three periods. Volatiles were more frequently used for the maintenance of general anesthesia in period 2 than in either period 1 or 3 (p < 0.001). Minor differences were noted throughout the periods in postoperative nausea and vomiting as well as postoperative pain. CONCLUSIONS: The COVID-19 pandemic has had an impact on perioperative care in Sweden. During the first wave of the pandemic, the number of surgical interventions decreased, but the number of acute surgeries remained stable compared with pre-pandemic numbers. Perioperative organizations have had and will continue to have challenges handling the increased number of patients needing perioperative care.
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| 7. |
- Dahlberg, Marie, et al.
(författare)
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Objectives and outcomes of patient-driven innovations published in peer-reviewed journals : a qualitative analysis of publications included in a scoping review
- 2023
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Ingår i: BMJ Open. - : BMJ Publishing Group Ltd. - 2044-6055. ; 13:6
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Forskningsöversikt (refereegranskat)abstract
- Objectives: The aim of this study was to gain a deeper understanding of the objectives and outcomes of patient-driven innovations that have been published in the scientific literature, focusing on (A) the unmet needs that patient-driven innovations address and (B) the outcomes for patients and healthcare that have been reported.Methods: We performed an inductive qualitative content analysis of scientific publications that were included in a scoping review of patient-driven innovations, previously published by our research group. The review was limited to English language publications in peer-reviewed journals, published in the years 2008-2020.Results: In total, 83 publications covering 21 patient-driven innovations were included in the analysis. Most of the innovations were developed for use on an individual or community level without healthcare involvement. We created three categories of unmet needs that were addressed by these innovations: access to self-care support tools, open sharing of information and knowledge, and patient agency in self-care and healthcare decisions. Eighteen (22%) publications reported outcomes of patient-driven innovations. We created two categories of outcomes: impact on self-care, and impact on peer interaction and healthcare collaboration.Conclusions: The patient-driven innovations illustrated a diversity of innovative approaches to facilitate patients' and informal caregivers' daily lives, interactions with peers and collaborations with healthcare. As our findings indicate, patients and informal caregivers are central stakeholders in driving healthcare development and research forward to meet the needs that matter to patients and informal caregivers. However, only few studies reported on outcomes of patient-driven innovations. To support wider implementation, more evaluation studies are needed, as well as research into regulatory approval processes, dissemination and governance of patient-driven innovations.
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| 8. |
- Dahlberg, Marie, et al.
(författare)
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Why publish? : An interview study exploring patient innovators’ reasons for and experiences of scientific publishing
- 2024
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Ingår i: Research Involvement and Engagement. - : BioMed Central (BMC). - 2056-7529. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Scientific publications featuring patient-driven innovations (i.e., innovations that are developed and driven by patients or informal caregivers) are increasing. By understanding patient innovators' experiences of research publication, the scientific community may be better prepared to support or partner with patient innovators. Thus, the aim of this study was to explore patient innovators' reasons for and experiences of authoring scientific publications about their innovations.Methods: Qualitative semi-structured interviews were conducted with 15 international patient innovators from three continents who had published in scientific journals. Participants were identified through a scoping review on patient-driven innovations and snowball sampling. Interviews were conducted from June to October 2022 and the data was analyzed using the Framework Method.Findings: Participants' reasons for publishing in scientific journals were to strengthen the roles and voices of patients and informal caregivers, and to get recognition for their innovations. Some published as a response to serendipitous opportunities. Several positive experiences were reported: collaborations defined by transparency, mutual respect, and meaningful participation; learning and competence development; and gained confidence regarding the value of lived experiences in research. Participants also reported negative experiences, such as cultural barriers manifested as conservatism in academia and power imbalances between participants and researchers, and structural barriers regarding academic affiliations and research funding.Conclusions: Despite progress in increasing patient and public involvement in research and publication, our study found that patient innovators still experience barriers. This suggests that continued efforts are needed to facilitate contributions from patient innovators and other public actors to the production of relevant and meaningful research.
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| 9. |
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| 10. |
- Evans, D., et al.
(författare)
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Social and behavioral factors associated with failing second-line ART - results from a cohort study at the Themba Lethu Clinic, Johannesburg, South Africa
- 2018
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Ingår i: Aids Care-Psychological and Socio-Medical Aspects of Aids/Hiv. - : Informa UK Limited. - 0954-0121. ; 30:7, s. 863-870
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Tidskriftsartikel (refereegranskat)abstract
- Poor adherence is a main challenge to successful second-line ART in South Africa. Studies have shown that patients can re-suppress their viral load following intensive adherence counselling. We identify factors associated with failure to re-suppress on second-line ART.The study was a retrospective cohort study which included HIV-positive adults who experienced an elevated viral load 400copies/ml on second-line ART between January 2013-July 2014, had completed an adherence counselling questionnaire and had a repeat viral load result recorded within 6 months of intensive adherence counselling. Log-binomial regression was used to evaluate the association between patient characteristics and social, behavioral or occupational factors and failure to suppress viral load (400copies/ml).A total of 128 patients were included in the analysis, and of these 39% (n=50) failed to re-suppress their viral load. Compared to those who suppressed, far more patients who failed to suppress reported living with family (44.2% vs. 23.7%), missing a dose in the past week (53.3% vs. 30.0%), using traditional/herbal medications (63.2% vs. 34.3%) or had symptoms suggestive of depression (57.7% vs. 34.3%).These patient-related factors could be targeted for interventions to reduce the risk for treatment failure and prevent switching to expensive third-line ART.
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