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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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- 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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- 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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- Norling, A, et al.
(författare)
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No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency
- 2014
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Ingår i: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. - : S. Karger AG. - 1661-5433. ; 8:4, s. 146-150
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Tidskriftsartikel (refereegranskat)abstract
- Ovarian dysfunction before the age of 40 years, characterized by hypergonadotropic hypogonadism and presenting with either primary or secondary amenorrhea, is called primary ovarian insufficiency (POI). POI has a significant genetic component, but the specific genetic cause is often unknown. A novel candidate gene for POI, <i>PSMC3IP</i>, has recently been identified. The aim of this study was to investigate a group of patients with POI for possible <i>PSMC3IP</i> mutations. Therefore, DNA samples from 50 patients with POI of primarily Swedish origin were used in the study, 27 with secondary amenorrhea (median age of diagnosis 23 years) and 23 with primary amenorrhea. Control material consisting of DNA samples from 95 women without POI was used for investigation of novel sequence variants. All exons and intron/exon boundaries of the <i>PSMC3IP</i> gene were analyzed by PCR and sequencing. As a result, no pathogenic mutation in the <i>PSMC3IP</i> gene was detected in the cohort. A previously unreported variant, NM_016556.3:c.337+33A>G, was detected in heterozygous form in 1 patient with secondary amenorrhea, likely constituting a normal variant. Two reported single nucleotide polymorphisms were detected in the cohort at the expected frequency. In conclusion, <i>PSMC3IP</i> gene mutations are not common causes of POI in this Swedish cohort.
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- Pettersson, Cecilia, et al.
(författare)
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Mobility Device Use and Exploration of Housing Accessibility for Powered Mobility Device Users among People Ageing with Spinal Cord Injury
- 2013
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Ingår i: Assistive Technology : From Research to Practice - From Research to Practice. - : IOS Press. - 1383-813X .- 1879-8071. - 9781614993049 - 9781614993032 ; 33, s. 226-231, s. 226-232
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Bokkapitel (refereegranskat)abstract
- Aim: To describe the use of mobility devices among people ageing with spinal cord injury (SCI), with a specific focus on use of powered mobility devices (PMD) and housing accessibility. Method: Data on the use of walking aids (cane, crutch/es or rollator), manual wheelchair and powered wheelchair/scooter were utilized. To describe functional limitations, environmental barriers and the magnitude of accessibility problems in the home and the closest exterior surroundings for each individual, the Housing Enabler instrument was used. Descriptive statistics were used for data analysis. Results: Mobility devices: Among participants with paraplegia, the manual wheelchair was the most frequently used mobility device indoors, and among participants with tetraplegia, it was the PMD. The PMD was the most common mobility device used outdoors among those with tetraplegia, and among participants with paraplegia. Housing accessibility: In exterior surroundings, refuse bin difficult to reach was the environmental barrier that generated the most accessibility problems, while at entrances doors that cannot be fastened in open position was identified as the most severe environmental barrier. Indoors, the environmental barrier that generated the most accessibility problems was wall-mounted cupboard and shelves placed high. Conclusion: To enable optimal use of the PMD in the home and close neighborhoods, and support everyday activity and participation for people ageing with SCI, it is vital to take into account not only personal and environmental aspects but also the mobility device in question. Though, it could be discussed if all the environmental barriers identified in this study, actually are problems for users of a PMD, since some of them might be possible to overcome. © 2013 The authors and IOS Press. All rights reserved.
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