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- Westenius, E, et al.
(författare)
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Reply
- 2022
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Ingår i: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. - 1469-0705. ; 60:4, s. 586-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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- Westenius, E, et al.
(författare)
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Reply
- 2022
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Ingår i: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. - : Wiley. - 1469-0705. ; 60:4, s. 586-586
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- Sahlin, E, et al.
(författare)
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Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases
- 2014
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Ingår i: Fetal diagnosis and therapy. - : S. Karger AG. - 1421-9964 .- 1015-3837. ; 36:4, s. 326-332
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Tidskriftsartikel (refereegranskat)abstract
- <b><i>Introduction:</i></b> The underlying causes of stillbirth are heterogeneous and in many cases unexplained. Our aim was to conclude clinical results from karyotype and quantitative fluorescence-polymerase chain reaction (QF-PCR) analysis of all stillbirths occurring in Stockholm County between 2008 and 2012. By screening a subset of cases, we aimed to study the possible benefits of chromosomal microarray (CMA) in the analysis of the etiology of stillbirth. <b><i>Methods:</i></b> During 2008-2012, 481 stillbirths in Stockholm County were investigated according to a clinical protocol including karyotype or QF-PCR analysis. CMA screening was performed on a subset of 90 cases, corresponding to all stillbirths from 2010 without a genetic diagnosis. <b><i>Results:</i></b> Chromosomal aberrations were detected by karyotype or QF-PCR analysis in 7.5% of the stillbirths. CMA analysis additionally identified two known syndromes, one aberration disrupting a known disease gene, and 26 variants of unknown significance. Furthermore, CMA had a significantly higher success rate than karyotyping (100 vs. 80%, p < 0.001). <b><i>Discussion:</i></b> In the analysis of stillbirth, conventional karyotyping is prone to failure, and QF-PCR is a useful complement. We show that CMA has a higher success rate and aberration detection frequency than these methods, and conclude that CMA is a valuable tool for identification of chromosomal aberrations in stillbirth.
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- Westenius, E, et al.
(författare)
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Reply
- 2024
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Ingår i: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. - 1469-0705. ; 63:5, s. 706-707
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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- Westenius, E, et al.
(författare)
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Reply
- 2024
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Ingår i: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. - 1469-0705. ; 63:5, s. 704-705
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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- Westenius, E, et al.
(författare)
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Reply
- 2024
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Ingår i: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. - 1469-0705. ; 63:5, s. 706-707
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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- Westenius, E, et al.
(författare)
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Reply
- 2024
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Ingår i: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. - 1469-0705. ; 63:5, s. 704-705
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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- Helle, Tina, et al.
(författare)
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Combining apps targeting professionals and senior citizens to improve housing accessibility and influence housing provision policies.
- 2015
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Ingår i: Studies in Health Technology and Informatics. - 0926-9630. - 9781614995654 ; 217, s. 300-305
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Konferensbidrag (refereegranskat)abstract
- Two separate apps that address the increasingly important issue of accessible housing for senior citizens have been developed in different project settings. One of the apps was developed to facilitate the process for professional raters to assess housing accessibility in the context of individual housing adaptations. The other app was developed for senior citizens to raise their awareness of possible accessibility problems in their current dwelling and in other apartments within the available housing stock. Both apps were developed with a high degree of active user involvement in processes utilizing multiple state of the art methods. The results are two well accepted prototype apps perceived as user-friendly and appropriate for the intended user groups. By combining these two apps, our ambition is for the professional raters to benefit by gaining knowledge of their clients' perceived needs and desires, and for senior citizens to benefit by getting access to a database of professionally rated dwellings. The ultimate goal is the generation of sound knowledge reflecting the needs and desires of senior citizens and professional requirements regarding accessible housing as a means to inform and influence housing provision policies.
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- Hulten, M A., et al.
(författare)
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Trisomy 21 Mosaicism: We May All Have a Touch of Down Syndrome
- 2013
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Ingår i: Cytogenetic and Genome Research. - : Karger. - 1424-8581 .- 1424-859X. ; 139:3, s. 189-192
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Tidskriftsartikel (refereegranskat)abstract
- Ever increasing sophistication in the application of new analytical technology has revealed that our genomes are much more fluid than was contemplated only a few years ago. More specifically, this concerns interindividual variation in copy number (CNV) of structural chromosome aberrations, i.e. microdeletions and microduplications. It is important to recognize that in this context, we still lack basic knowledge on the impact of the CNV in normal cells from individual tissues, including that of whole chromosomes (aneuploidy). Here, we highlight this challenge by the example of the very first chromosome aberration identified in the human genome, i.e. an extra chromosome 21 (trisomy 21, T21), which is causative of Down syndrome (DS). We consider it likely that most, if not all, of us are T21 mosaics, i.e. everyone carries some cells with an extra chromosome 21, in some tissues. In other words, we may all have a touch of DS. We further propose that the occurrence of such tissue-specific T21 mosaicism may have important ramifications for the understanding of the pathogenesis, prognosis and treatment of medical problems shared between people with DS and those in the general non-DS population.
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- Hulten, MA, et al.
(författare)
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On the origin of trisomy 21 Down syndrome
- 2008
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Ingår i: Molecular cytogenetics. - : Springer Science and Business Media LLC. - 1755-8166. ; 1, s. 21-
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Tidskriftsartikel (refereegranskat)
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- Lamb, Sarah E., et al.
(författare)
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Reporting of complex interventions in clinical trials : Development of a taxonomy to classify and describe fall-prevention interventions
- 2011
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Ingår i: Trials. - : Springer Science and Business Media LLC. - 1745-6215. ; 12
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Tidskriftsartikel (refereegranskat)abstract
- Interventions for preventing falls in older people often involve several components, multidisciplinary teams, and implementation in a variety of settings. We have developed a classification system (taxonomy) to describe interventions used to prevent falls in older people, with the aim of improving the design and reporting of clinical trials of fall-prevention interventions, and synthesis of evidence from these trials.Methods: Thirty three international experts in falls prevention and health services research participated in a series of meetings to develop consensus. Robust techniques were used including literature reviews, expert presentations, and structured consensus workshops moderated by experienced facilitators. The taxonomy was refined using an international test panel of five health care practitioners. We assessed the chance corrected agreement of the final version by comparing taxonomy completion for 10 randomly selected published papers describing a variety of fall-prevention interventions.Results: The taxonomy consists of four domains, summarized as the "Approach", "Base", "Components" and "Descriptors" of an intervention. Sub-domains include; where participants are identified; the theoretical approach of the intervention; clinical targeting criteria; details on assessments; descriptions of the nature and intensity of interventions. Chance corrected agreement of the final version of the taxonomy was good to excellent for all items. Further independent evaluation of the taxonomy is required.Conclusions: The taxonomy is a useful instrument for characterizing a broad range of interventions used in falls prevention. Investigators are encouraged to use the taxonomy to report their interventions.
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