| 1. |
- Alexander, M S, et al.
(författare)
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International standards to document remaining autonomic function after spinal cord injury.
- 2008
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Ingår i: Spinal cord : the official journal of the International Medical Society of Paraplegia. - : Springer Science and Business Media LLC. - 1362-4393. ; 47:1, s. 36-43
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Tidskriftsartikel (refereegranskat)abstract
- STUDY DESIGN: Experts opinions consensus. OBJECTIVE: To develop a common strategy to document remaining autonomic neurologic function following spinal cord injury (SCI). BACKGROUND AND RATIONALE: The impact of a specific SCI on a person's neurologic function is generally described through use of the International Standards for the Neurological Classification of SCI. These standards document the remaining motor and sensory function that a person may have; however, they do not provide information about the status of a person's autonomic function. METHODS: Based on this deficiency, the American Spinal Injury Association (ASIA) and the International Spinal Cord Society (ISCoS) commissioned a group of international experts to develop a common strategy to document the remaining autonomic neurologic function. RESULTS: Four subgroups were commissioned: bladder, bowel, sexual function and general autonomic function. On-line communication was followed by numerous face to face meetings. The information was then presented in a summary format at a course on Measurement in Spinal Cord Injury, held on June 24, 2006. Subsequent to this it was revised online by the committee members, posted on the websites of both ASIA and ISCoS for comment and re-revised through webcasts. Topics include an overview of autonomic anatomy, classification of cardiovascular, respiratory, sudomotor and thermoregulatory function, bladder, bowel and sexual function. CONCLUSION:This document describes a new system to document the impact of SCI on autonomic function. Based upon current knowledge of the neuroanatomy of autonomic function this paper provides a framework with which to communicate the effects of specific spinal cord injuries on cardiovascular, broncho-pulmonary, sudomotor, bladder, bowel and sexual function.
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| 2. |
- Andreaggi, Kimberly, et al.
(författare)
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Complete Mitochondrial DNA Genome Variation in the Swedish Population
- 2023
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Ingår i: Genes. - : MDPI. - 2073-4425. ; 14:11, s. 1989-1989
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Tidskriftsartikel (refereegranskat)abstract
- The development of complete mitochondrial genome (mitogenome) reference data for inclusion in publicly available population databases is currently underway, and the generation of more high-quality mitogenomes will only enhance the statistical power of this forensically useful locus. To characterize mitogenome variation in Sweden, the mitochondrial DNA (mtDNA) reads from the SweGen whole genome sequencing (WGS) dataset were analyzed. To overcome the interference from low-frequency nuclear mtDNA segments (NUMTs), a 10% variant frequency threshold was applied for the analysis. In total, 934 forensic-quality mitogenome haplotypes were characterized. Almost 45% of the SweGen haplotypes belonged to haplogroup H. Nearly all mitogenome haplotypes (99.1%) were assigned to European haplogroups, which was expected based on previous mtDNA studies of the Swedish population. There were signature northern Swedish and Finnish haplogroups observed in the dataset (e.g., U5b1, W1a), consistent with the nuclear DNA analyses of the SweGen data. The complete mitogenome analysis resulted in high haplotype diversity (0.9996) with a random match probability of 0.15%. Overall, the SweGen mitogenomes provide a large mtDNA reference dataset for the Swedish population and also contribute to the effort to estimate global mitogenome haplotype frequencies.
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| 3. |
- Mellqvist Fässberg, Madeleine, et al.
(författare)
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A systematic review of social factors and suicidal behavior in older adulthood
- 2012
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Ingår i: International Journal of Environmental Research and Public Health. - : MDPI AG. - 1660-4601. ; 9:3, s. 722-745
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Forskningsöversikt (refereegranskat)abstract
- Suicide in later life is a global public health problem. The aim of this review was to conduct a systematic analysis of studies with comparison groups that examined the associations between social factors and suicidal behavior (including ideation, non-fatal suicidal behavior, or deaths) among individuals aged 65 and older. Our search identified only 16 articles (across 14 independent samples) that met inclusion criteria. The limited number of studies points to the need for further research. Included studies were conducted in Canada (n = 2), Germany (n = 1), Hong Kong (n = 1), Japan (n = 1), Singapore (n = 1), Sweden (n = 2), Taiwan (n = 1), the U.K. (n = 2), and the U.S. (n = 3). The majority of the social factors examined in this review can be conceptualized as indices of positive social connectedness-the degree of positive involvement with family, friends, and social groups. Findings indicated that at least in industrialized countries, limited social connectedness is associated with suicidal ideation, non-fatal suicidal behavior, and suicide in later life. Primary prevention programs designed to enhance social connections as well as a sense of community could potentially decrease suicide risk, especially among men.
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| 4. |
- Sturk-Andreaggi, Kimberly, et al.
(författare)
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The Value of Whole-Genome Sequencing for Mitochondrial DNA Population Studies : Strategies and Criteria for Extracting High-Quality Mitogenome Haplotypes
- 2022
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Ingår i: International Journal of Molecular Sciences. - : MDPI AG. - 1661-6596 .- 1422-0067. ; 23:4
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Tidskriftsartikel (refereegranskat)abstract
- Whole-genome sequencing (WGS) data present a readily available resource for mitochondrial genome (mitogenome) haplotypes that can be utilized for genetics research including population studies. However, the reconstruction of the mitogenome is complicated by nuclear mitochondrial DNA (mtDNA) segments (NUMTs) that co-align with the mtDNA sequences and mimic authentic heteroplasmy. Two minimum variant detection thresholds, 5% and 10%, were assessed for the ability to produce authentic mitogenome haplotypes from a previously generated WGS dataset. Variants associated with NUMTs were detected in the mtDNA alignments for 91 of 917 (~8%) Swedish samples when the 5% frequency threshold was applied. The 413 observed NUMT variants were predominantly detected in two regions (nps 12,612–13,105 and 16,390–16,527), which were consistent with previously documented NUMTs. The number of NUMT variants was reduced by ~97% (400) using a 10% frequency threshold. Furthermore, the 5% frequency data were inconsistent with a platinum-quality mitogenome dataset with respect to observed heteroplasmy. These analyses illustrate that a 10% variant detection threshold may be necessary to ensure the generation of reliable mitogenome haplotypes from WGS data resources.
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