| 1. |
- Bruder, Carl E G, et al.
(författare)
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Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
- 2008
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 82:3, s. 763-71
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Tidskriftsartikel (refereegranskat)abstract
- The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.
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| 2. |
- Christel, Borg, et al.
(författare)
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Problem-based learning with digitals tools in the nursing programme during the Covid-19 pandemic
- 2022
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Ingår i: Högre Utbildning. - : Cappelen Damm Akademisk. - 2000-7558. ; 12:2, s. 117-122
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Tidskriftsartikel (refereegranskat)abstract
- During the spring 2019, the prerequisites for conducting education were changed due to the pandemic. For higher education in Sweden almost all education switches on to digital education. Nursing education has focus on both theoretical and practical courses, which is a challenge for digital or distance education. Furthermore, the nursing programme at the studied university used problem-based learning (PBL), with base-groups at campus. Instead of physical meetings at campus, the base-groups took part with digital tools. The impact of base-groupsmeeting with digital tools are important to reflect on, especially since the education and learning of future probably will be more hybrid. © 2022 Christel Borg, Johanna Tell, Terese Lindberg, Lina Nilsson, Anki Olsson, Malin Forsbrand & Lisa Skär.
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| 3. |
- de Ståhl, Teresita Díaz, et al.
(författare)
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Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array
- 2008
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 29:3, s. 398-408
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Tidskriftsartikel (refereegranskat)abstract
- To further explore the extent of structural large-scale variation in the human genome, we assessed copy number variations (CNVs) in a series of 71 healthy subjects from three ethnic groups. CNVs were analyzed using comparative genomic hybridization (CGH) to a BAC array covering the human genome, using DNA extracted from peripheral blood, thus avoiding any culture-induced rearrangements. By applying a newly developed computational algorithm based on Hidden Markov modeling, we identified 1,078 autosomal CNVs, including at least two neighboring/overlapping BACs, which represent 315 distinct regions. The average size of the sequence polymorphisms was approximately 350 kb and involved in total approximately 117 Mb or approximately 3.5% of the genome. Gains were about four times more common than deletions, and segmental duplications (SDs) were overrepresented, especially in larger deletion variants. This strengthens the notion that SDs often define hotspots of chromosomal rearrangements. Over 60% of the identified autosomal rearrangements match previously reported CNVs, recognized with various platforms. However, results from chromosome X do not agree well with the previously annotated CNVs. Furthermore, data from single BACs deviating in copy number suggest that our above estimate of total variation is conservative. This report contributes to the establishment of the common baseline for CNV, which is an important resource in human genetics.
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| 4. |
- Johansson Cristvall, Angelika, 1965-, et al.
(författare)
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School Health Services’ Use of Information and Communication Technologies in Interorganizational Collaboration Regarding Students With Mental Illness : A Scoping Review
- 2024
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Ingår i: Journal of School Nursing. - : Sage Publications. - 1059-8405 .- 1546-8364.
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Forskningsöversikt (refereegranskat)abstract
- School health services (SHSs) and school nurses play a crucial role in identifying and supporting students with mental illness. The integration of information and communication technology (ICT) can facilitate interorganizational collaboration in this context. Due to the limited research in this area, a scoping review was conducted to explore SHSs’ use of ICT in interorganization collaboration regarding students with mental illness. Six articles were reviewed, revealing three key themes: “types of ICT employed by SHSs in interorganizational collaboration,” “constellation of SHSs in interorganizational collaboration,” and “opportunities and challenges for SHSs using ICT in interorganizational collaboration.” Notably, two of the six articles highlighted the absence of school nurses in interorganizational collaboration. Even though ICT plays a crucial role in interorganizational collaboration, no comprehensive solution was found. This scoping review confirms that there are challenges with operability and regulations that govern the exchange of private information between organizations.
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| 5. |
- Lang, Christina, et al.
(författare)
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Parents want Swedish child health services to focus more on motor development and practical advice
- 2021
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Ingår i: Acta Paediatrica. - : John Wiley & Sons. - 0803-5253 .- 1651-2227. ; 110:8, s. 2415-2423
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Tidskriftsartikel (refereegranskat)abstract
- Aim Parents' experiences and expectations are key to developing evidence-based approaches that respond to family needs. However, little is known about how parents regard the motor assessments in well-child surveillance and what they need to support their child's motor development. This study explored their experiences. Methods We conducted 11 semi-structured interviews with Swedish-speaking parents whose children had been referred to a physiotherapist by child health services (CHS) before 18 months of age. Consecutive sampling was conducted from March to November 2018. The data were analysed using systematic text condensation. Results The three themes that emerged were that that parents liked the CHS setting, but had concerns about the lack of focus on motor development during routine health visits and wanted more dialogue about this area. The parents said that the assessments varied considerably and that their concerns were not always taken seriously. They wanted to know more about the professionals' observations, how their child was expected to develop and what they could do to support their motor development. Conclusion Parents wanted a greater focus on motor development during routine health visits. This included advice on how they could support their child's development.
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| 6. |
- Magnusson, Margaretha, 1950-, et al.
(författare)
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Stora skillnader i svensk barnhälsovård : Barnhälsovårdsenheter avgör själva – oroande att nationellt program saknas
- 2011
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Ingår i: Läkartidningen. - 0023-7205 .- 1652-7518. ; 108:35, s. 1618-1621
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- At present there is no national program for child health services in Sweden. The profession has now started work on the issue and in 2009 the Ministry of Health and Social Affairs commissioned the National Board of Health and Welfare to ensure the creation, dissemination and continual revision of guidelines, recommendations and summaries of the present knowledge regarding child health services. In the spring of 2010 an internet-based questionnaire was distributed to all child health services units in Sweden in order to assess the egality of the child health programs provided and which health surveillance methods were offered within the basic child health program. Although the Swedish child health services are often described as being universal and equivalent, the results show a great disparity in the range, methods and follow up of the services provided in different parts of the country.
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| 7. |
- Piotrowski, Arkadiusz, et al.
(författare)
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Somatic mosaicism for copy number variation in differentiated human tissues
- 2008
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 29:9, s. 1118-24
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Tidskriftsartikel (refereegranskat)abstract
- Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- to megabase-sized chromosomal segments. It is unknown whether CNVs arise in somatic cells, but it is, however, generally assumed that normal cells are genetically identical. We tested 34 tissue samples from three subjects and, having analyzed for each tissue < or =10(-6) of all cells expected in an adult human, we observed at least six CNVs, affecting a single organ or one or more tissues of the same subject. The CNVs ranged from 82 to 176 kb, often encompassing known genes, potentially affecting gene function. Our results indicate that humans are commonly affected by somatic mosaicism for stochastic CNVs, which occur in a substantial fraction of cells. The majority of described CNVs were previously shown to be polymorphic between unrelated subjects, suggesting that some CNVs previously reported as germline might represent somatic events, since in most studies of this kind, only one tissue is typically examined and analysis of parents for the studied subjects is not routinely performed. A considerable number of human phenotypes are a consequence of a somatic process. Thus, our conclusions will be important for the delineation of genetic factors behind these phenotypes. Consequently, biobanks should consider sampling multiple tissues to better address mosaicism in the studies of somatic disorders.
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| 8. |
- Tell, Johanna
(författare)
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Att lyfta en kurs från botten till toppen
- 2022
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Rapport (populärvet., debatt m.m.)abstract
- Sjuksköterskeutbildningen förknippas nog av många med att lära sig att rädda liv, bota sjukdom, att ge omvårdnad och injektioner. Lika betydelsefullt för en filosofie kandidatexamen är att lära sig om vetenskaplig teori och metod, vilket ofta inte ses som lika eftertraktat. Ämnet beskrivs ibland som svårt, som ett onödigt ont och ibland som övermäktigt. Jag ska berätta om ett lärarlags ambition och arbete för att göra kursen i vetenskaplig teori och metod het, lärorik och rolig. Vi har försökt vara kreativa där vi testat olika läraktiviteter och anpassat undervisningen utefter just de studenterna som vi haft framför oss.
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| 9. |
- Tell, Johanna, 1973-
(författare)
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Implementation and use of Web-based National Guidelines in Child Healthcare
- 2019
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- In Sweden, child healthcare (CHC) is an important health promotion setting, providing universal and targeted interventions. High demands on child healthcare and the competences of CHC nurses, highlight the importance of access to supportive web-based guidelines in everyday work. The implementation of web-based guidelines is affected by various factors and can be challenging. The Swedish Rikshandbokenis national guidelines for CHC that are in the process of being implemented. The overall aim of this thesis was to investigate the CHC provided in Sweden before the implementation of the national CHC programme, and the implementation and usage of web-based national guidelines for CHC. Study Iaimed to investigate whether the Swedish CHC programme was equal and which methods for health surveillance the county councils offered. A web-survey distributed to CHC coordinators was used, and the data were analyzed with descriptive statistics. Study IIaimed to investigate how nurses in CHC use Rikshandboken and factors affecting its use. A web survey was used and analysed using descriptive and analytical statistics. Study IIIaimed to investigate CHC coordinators´ experiences of being a facilitator in the implementation of a new national CHC programme in the form of a web-based guide. Focus group interviews via Skype for Business were conducted and analyzed using qualitative content analysis. Study IVaimed to examine CHC nurses´ use and ways of understanding the national web-based guidelines, Rikshandboken. A mixed method with sequential explanatory design in two phases was used; a web-survey with descriptive statistics followed by telephone interviews with phenomenographic analysis. Study Vaimed to investigate the usage of the national web-based guidelines, Rikshandboken. The data were collected from Google Analytics, and analyzed using descriptive statistics. The results of the studies show that Rikshandbokenis widely used and that its usage has increased. CHC nurses are generally satisfied with the website and emphasizes the importance of national guidelines for CHC. Factors needed to be developed to improve Rikshandbokenwere suggested as well as prerequisites that are needed in the local context to use Rikshandbokenfully. It must be reliable, useful and relevant why the end users need to be involved in the development. With the right conditions, Rikshandbokencould be a resource for learning and a tool in everyday work for CHC nurses. The result also shows that the CHC is provided unequally, and that the CHC programme is challenging to implement in the local context. The CHC coordinators´ task is to facilitate the implementation of the web-based national guidelines; however, this responsibility is complex. Changing the content, structure and access to Rikshandbokenis not sufficient, in the local context, prerequisites for the use of these web-based national guidelines must exist, and only then can Rikshandbokenbe a contributing determinant to an equal CHC.
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| 10. |
- Tell, Johanna, et al.
(författare)
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Implementation of a web-based national child health-care programme in a local context : A complex facilitator role
- 2018
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Ingår i: Scandinavian Journal of Public Health. - : Sage Publications. - 1403-4948 .- 1651-1905. ; 46:Suppl 20, s. 80-86
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Tidskriftsartikel (refereegranskat)abstract
- Aim: The aim of this study was to investigate child health-care coordinators’ experiences of being a facilitator for the implementation of a new national child health-care programme in the form of a web-based national guide. Methods: The study was based on eight remote, online focus groups, using Skype for Business. A qualitative content analysis was performed. Results: The analysis generated three categories: adapt to a local context, transition challenges and led by strong incentives. There were eight subcategories. In the latent analysis, the theme ‘Being a facilitator: a complex role’ was formed to express the child health-care coordinators’ experiences. Conclusions: Facilitating a national guideline or decision support in a local context is a complex task that requires an advocating and mediating role. For successful implementation, guidelines and decision support, such as a web-based guide and the new child health-care programme, must match professional consensus and needs and be seen as relevant by all. Participation in the development and a strong bottom-up approach was important, making the web-based guide and the programme relevant to whom it is intended to serve, and for successful implementation. The study contributes valuable knowledge when planning to implement a national web-based decision support and policy programme in a local health-care context.
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