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- Campagnoli, Minchiotti, et al.
(författare)
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Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT).
- 2008
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Ingår i: Clinica chimica acta; international journal of clinical chemistry. - : Elsevier BV. - 0009-8981. ; 396:1-2, s. 89-92
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin. Here we report the first case of hereditary analbuminemia in the ethnic Swedish population, and we define the molecular defect that causes the analbuminemic trait. METHODS: Total DNA, extracted from peripheral blood samples from the analbuminemic proband and his parents, was PCR-amplified using oligonucleotide primers designed to amplify the 14 exons, the exon-intron splice junctions, and the 5' and 3' untranslated regions of the albumin gene. The products were screened for mutations by single-strand conformation polymorphism and heteroduplex analyses. The latter allowed the identification of the abnormal fragment, which was then sequenced. RESULTS: The analbuminemic trait of the proband was caused by a homozygous AT deletion at nucleotides c. 228-229, the 91st and 92nd bases of exon 3. This defect, previously identified as Kayseri mutation [M. Galliano, M. Campagnoli, A. Rossi, et al. Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. Clin Chem 2002;48: 844-849.], produces a frameshift leading to a premature stop, two codons downstream. CONCLUSIONS: The Kayseri mutation appears to be the most common cause of analbuminemia in humans, and is found in individuals belonging to geographically distant, and apparently unrelated ethnic groups.
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| 2. |
- Haghighi, Mona, et al.
(författare)
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A Comparison of Rule-based Analysis with Regression Methods in Understanding the Risk Factors for Study Withdrawal in a Pediatric Study
- 2016
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6
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Tidskriftsartikel (refereegranskat)abstract
- Regression models are extensively used in many epidemiological studies to understand the linkage between specific outcomes of interest and their risk factors. However, regression models in general examine the average effects of the risk factors and ignore subgroups with different risk profiles. As a result, interventions are often geared towards the average member of the population, without consideration of the special health needs of different subgroups within the population. This paper demonstrates the value of using rule-based analysis methods that can identify subgroups with heterogeneous risk profiles in a population without imposing assumptions on the subgroups or method. The rules define the risk pattern of subsets of individuals by not only considering the interactions between the risk factors but also their ranges. We compared the rule-based analysis results with the results from a logistic regression model in The Environmental Determinants of Diabetes in the Young (TEDDY) study. Both methods detected a similar suite of risk factors, but the rule-based analysis was superior at detecting multiple interactions between the risk factors that characterize the subgroups. A further investigation of the particular characteristics of each subgroup may detect the special health needs of the subgroup and lead to tailored interventions.
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| 5. |
- Nyström, Monica E., et al.
(författare)
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Exploring the potential of a multi-level approach to improve capability for continuous organizational improvement and learning in a Swedish healthcare region
- 2018
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Ingår i: BMC Health Serv Res. - : Springer Science and Business Media LLC. - 1472-6963. ; 18
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Tidskriftsartikel (refereegranskat)abstract
- Background: Eldercare and care of people with functional impairments is organized by the municipalities in Sweden. Improving care in these areas is complex, with multiple stakeholders and organizations. Appropriate strategies to develop capability for continuing organizational improvement and learning (COIL) are needed. The purpose of our study was to develop and pilot-test a flexible, multilevel approach for COIL capability building and to identify what it takes to achieve changes in key actors' approaches to COIL. The approach, named "Sustainable Improvement and Development through Strategic and Systematic Approaches" (SIDSSA), was applied through an action-research and action-learning intervention. Methods: The SIDSSA approach was tested in a regional research and development (R&D) unit, and in two municipalities handling care of the elderly and people with functional impairments. Our approach included a multilevel strategy, development loops of five flexible phases, and an action-learning loop. The approach was designed to support systems understanding, strategic focus, methodological practices, and change process knowledge-all of which required double-loop learning. Multiple qualitative methods, i.e., repeated interviews, process diaries, and documents, provided data for conventional content analyses. Results: The new approach was successfully tested on all cases and adopted and sustained by the R&D unit. Participants reported new insights and skills. The development loop facilitated a sense of coherence and control during uncertainty, improved planning and problem analysis, enhanced mapping of context and conditions, and supported problem-solving at both the individual and unit levels. The systems-level view and structured approach helped participants to explain, motivate, and implement change initiatives, especially after working more systematically with mapping, analyses, and goal setting. Conclusions: An easily understood and generalizable model internalized by key organizational actors is an important step before more complex development models can be implemented. SIDSSA facilitated individual and group learning through action-learning and supported systems-level views and structured approaches across multiple organizational levels. Active involvement of diverse organizational functions and levels in the learning process was facilitated. However, the time frame was too short to fully test all aspects of the approach, specifically in reaching beyond the involved managers to front-line staff and patients.
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| 6. |
- Nyström, Monica, et al.
(författare)
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Framtidens välfärdstjänster: Nya arbetssätt för innovativ serviceutveckling inom vård och omsorg : Future wellfare services : New approaches to innovative service development in health and social care (Engelska)
- 2014
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- En växande andel äldre i befolkningen i kombination med en minskande andel arbetskraft ställer allt tuffare krav på utveckling av vård och omsorg. För att klara dessa utmaningar och utveckla framtidens välfärdtjänster krävs nya innovativa arbetssätt. Vi arbetar nu med ett projekt som handlar om verksamhets- och serviceutveckling inom området äldre och vuxna med funktionsnedsättning. Projektet drivs i samarbete med ett tvärvetenskapligt forskarteam från Karolinska institutet, Göteborgs universitet och Luleå tekniska universitet och pågår från november 2009 till och med december 2012. Syftet med projektet är att i regionen Sörmland utveckla och testa arbetssätt som kan stödja innovativ verksamhets- och serviceutveckling inom området äldre och vuxna med funktionsnedsättning. Projektet involverar flera organisatoriska nivåer och huvudmän, inklusive landsting och kommuner. Den teoretiska basen bygger på lärdomar från kvalitets-utveckling, organisatoriskt lärande, innovationsforskning och organisatorisk kreativitet. Upplägget ger förutsättningar för lärande och snabb återkoppling över organisatoriska gränser. Resultaten kan bidra till kunskap om hur olika förutsättningar påverkar lärande, kreativitet och innovationsutveckling inom vård och omsorg, vilket i sin tur underlättar beslut kring strategiska satsningar och ökad kvalitet i vården. Projektet förväntas ge ny kunskap kring organisationers lärandeprocess som kan användas även för andra utvecklingssatsningar.
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| 7. |
- Nyström, Monica, et al.
(författare)
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Locally based research and development units as knowledge brokers and change facilitators in health and social care of older people in Sweden
- 2015
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Ingår i: Evidence & Policy. - : Policy Press. - 1744-2648 .- 1744-2656. ; 11:1, s. 57-80
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Tidskriftsartikel (refereegranskat)abstract
- This article investigates the role of locally based research and development units (R&Ds) focusing on health and social services. Nearly 300 Local R&Ds are funded by the Swedish government with the intention to facilitate knowledge transfer and development of high quality and effective health and social care organisations. Based on analyses of archival data on aims, activities and outputs of R&Ds focusing on care for older people the authors argue that Local R&Ds have potentials to act as knowledge brokers, change agents and researchers, but these overlapping roles need clarified strategies and enactment of a variety of skills.
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| 8. |
- Rewers, Marian, et al.
(författare)
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The Environmental Determinants of Diabetes in the Young (TEDDY) Study
- 2008
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Ingår i: Annals of the New York Academy of Sciences. - : Wiley. - 0077-8923 .- 1749-6632. ; 1150, s. 1-13
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Tidskriftsartikel (refereegranskat)abstract
- The etiology of type 1 diabetes (T1D) remains unknown, but a growing body of evidence points to infectious agents and/or components of early childhood diet. The National Institutes of Health has established the TEDDY Study consortium of six clinical centers in the United States and Europe and a data coordinating center to identify environmental factors predisposing to, or protective against, islet autoimmunity and T1D. From 2004-2009, TEDDY will screen more than 360,000 newborns from both the general population and families already affected by T1D to identify an estimated 17,804 children with high-risk HLA-DR,DQ genotypes. Of those, 7,801 (788 first-degree relatives and 7,013 newborns with no family history of T1D) will be enrolled in prospective follow-up beginning before the age of 4.5 months. As of May 2008, TEDDY has screened more than 250,000 newborns and enrolled nearly 5,000 infants--approximately 70% of the final cohort. Participants are seen every 3 months up to 4 years of age, with subsequent visits every 6 months until the subject is 15 years of age. Blood samples are collected at each visit for detection of candidate infectious agents and nutritional biomarkers; monthly stool samples are collected for infectious agents. These samples are saved in a central repository. Primary endpoints include (1) appearance of one or more islet autoantibodies (to insulin, GAD65 or IA-2) confirmed at two consecutive visits; (2) development of T1D. By age 15, an estimated 800 children will develop islet autoimmunity and 400 will progress to T1D; 67 and 27 children have already reached these endpoints.
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| 9. |
- TEDDY study group, The, et al.
(författare)
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The environmental determinants of diabetes in the young (TEDDY) study: Study design
- 2007
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Ingår i: Pediatric Diabetes. - : Hindawi Limited. - 1399-543X .- 1399-5448. ; 8:5, s. 286-298
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Tidskriftsartikel (refereegranskat)abstract
- The primary objective of this multicenter, multinational, epidemiological study is the identification of infectious agents, dietary factors, or other environmental exposures that are associated with increased risk of autoimmunity and type 1 diabetes mellitus (T1DM). Factors affecting specific phenotypic manifestations such as early age of onset or rate of progression or with protection from the development of T1DM will also be identified. The Environmental Determinants of Diabetes in the Young (TEDDY) is an observational cohort study in which newborns who are younger than 4 months and have high-risk human leukocyte antigen alleles in the general population or are first-degree relatives (FDRs) of patients affected with T1DM will be enrolled. Six clinical centers in the USA and Europe will screen 361 588 newborns, of which it is anticipated that 17 804 will be eligible for enrollment with just over 7800 followed. Recruitment will occur over 5 yr, with children being followed to the age of 15 yr. Identification of such factors will lead to a better understanding of disease pathogenesis and result in new strategies to prevent, delay, or reverse T1DM.
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