| 1. |
- Kling, Daniel, et al.
(author)
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DNA microarray as a tool in establishing genetic relatedness-Current status and future prospects
- 2012
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In: Forensic Science International. - : Elsevier. - 1872-4973 .- 1878-0326. ; 6:3, s. 322-329
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Journal article (peer-reviewed)abstract
- In the past decades, microarray technology has definitely put an edge to the field of genetic research. Our aim was to determine whether single nucleotide polymorphism (SNP) microarrays could be used as a tool in establishing genetic relationships where current molecular genetic methods are not sufficient. We used the Genechip, Affymetrix GenomeWide SNP Array 6.0, which detects more than 900,000 SNP markers dispersed throughout the human genome. The intention was to find a good selection of SNP markers that could be used for statistical evaluation of relatedness in a forensic setting. We conducted pairwise comparisons in the R-package FEST as well as pedigree comparisons in Merlin. Our methods were applied on two separate families, where relationships as distant as 3rd cousins were known. In addition, a question about a possible common ancestry between the two families was tested. Relationships as distant as 2nd cousins could be readily distinguished both from unrelated and other, genetically, closer relationships. This was achieved with a selection of 5774 markers, where each pair of markers was separated by a genetic distance of at least 0.5 cM (centiMorgan). When considering 3rd cousins, and more distant relationships, the number of markers needs to be extended, consequently decreasing the genetic distance between the markers. However, inclusion of a too large number of markers presents new challenges and our results imply that the use of too dense sets of markers always yields the highest probability for the genetically closest relationship hypothesis. Simulations confirm that this is most probably caused by the fact that the computational model assumes linkage equilibrium between markers, a problem that will be further evaluated. Our results do however suggest that SNP-data derived from microarrays are well suited for kinship determination provided linkage disequilibrium is properly accounted for.
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| 2. |
- Lundstrom, Ulrika Hahn, et al.
(author)
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Surgical versus endovascular intervention for vascular access thrombosis : a nationwide observational cohort study
- 2022
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In: Nephrology, Dialysis and Transplantation. - : Oxford University Press. - 0931-0509 .- 1460-2385. ; 37:9, s. 1742-1750
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Journal article (peer-reviewed)abstract
- Background There is no consensus whether an arteriovenous (AV) access thrombosis is best treated by surgical or endovascular intervention. We compared the influence of surgical versus endovascular intervention for AV access thrombosis on access survival using real-life data from a national access registry. Methods We included patients from the Swedish Renal Access Registry (SRR-Access) with a working AV access undergoing surgical or endovascular intervention for their first thrombosis between 2008 and 2020. The primary outcome was the risk of access abandonment (secondary patency at 30, 60, 90 and 365 days). Secondary outcomes were time to next intervention and 30-day mortality. Access characteristics were obtained from the SRR-Access and patient characteristics were collected from the Swedish Renal Registry. Outcomes were assessed with multivariable logistic regression and Cox proportional hazards regression models adjusted for demographics, clinical and access-related variables. Results A total of 904 patients with AV access thrombosis (54% arteriovenous fistula, 35% upper arm access) were included, with a mean age of 62 years, 60% were women, 75% had hypertension and 33% had diabetes. Secondary patency was superior after endovascular intervention versus surgical (85% versus 77% at 30 days and 76% versus 69% at 90 days). The adjusted odds of access abandonment within 90 days and 1 year were higher in the surgical thrombectomy group {odds ratio (OR) 1.44 [95% confidence interval (CI) 1.05-1.97] and OR 1.25 (0.94-1.66), respectively}. Results were consistent in the long-term analysis. There was no significant difference in time to next intervention or mortality, and results were consistent within subgroups. Conclusions Endovascular intervention was associated with a small short- and long-term benefit as compared with open surgery in haemodialysis patients with AV access thrombosis.
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| 3. |
- Stegmayr, Bernd, 1949-, et al.
(author)
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Using the World Apheresis Association Registry Helps to Improve the Treatment Quality of Therapeutic Apheresis
- 2021
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In: Transfusion Medicine and Hemotherapy. - : S. Karger. - 1660-3796 .- 1660-3818. ; 48:4, s. 234-239
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Research review (peer-reviewed)abstract
- Therapeutic apheresis (TA) is prescribed to patients that suffer from a severe progressive disease that is not sufficiently treated by conventional medications. A way to gain more knowledge about this treatment is usually by the local analysis of data. However, the use of large quality assessment registries enables analyses of even rare findings. Here, we report some of the recent data from the World Apheresis Association (WAA) registry. Data from >104,000 procedures were documented, and TA was performed on >15,000 patients. The main indication for TA was the collection of autologous stem cells (45% of patients) as part of therapy for therapy. Collection of stem cells from donors for allogeneic transplantation was performed in 11% of patients. Patients with indications such as neurological diseases underwent plasma exchange (28%). Extracorporeal photochemotherapy, lipid apheresis, and antibody removal were other indications. Side effects recorded in the registry have decreased significantly over the years, with approximately only 10/10,000 procedures being interrupted for medical reasons. Conclusion: Collection of data from TA procedures within a multinational and multicenter concept facilitates the improvement of treatment by enabling the analysis of and feedback on indications, procedures, effects, and side effects. (c) 2021 S. Karger AG, Basel
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| 4. |
- Tillmar, Andreas O, et al.
(author)
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A universal method for species identification of mammals utilizing next generation sequencing for the analysis of DNA mixtures
- 2013
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In: PLOS ONE. - : Public Library of Science. - 1932-6203. ; 8:12, s. e83761-
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Journal article (peer-reviewed)abstract
- Species identification can be interesting in a wide range of areas, for example, in forensic applications, food monitoring and in archeology. The vast majority of existing DNA typing methods developed for species determination, mainly focuses on a single species source. There are, however, many instances where all species from mixed sources need to be determined, even when the species in minority constitutes less than 1 % of the sample. The introduction of next generation sequencing opens new possibilities for such challenging samples. In this study we present a universal deep sequencing method using 454 GS Junior sequencing of a target on the mitochondrial gene 16S rRNA. The method was designed through phylogenetic analyses of DNA reference sequences from more than 300 mammal species. Experiments were performed on artificial species-species mixture samples in order to verify the method's robustness and its ability to detect all species within a mixture. The method was also tested on samples from authentic forensic casework. The results showed to be promising, discriminating over 99.9 % of mammal species and the ability to detect multiple donors within a mixture and also to detect minor components as low as 1 % of a mixed sample.
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| 5. |
- Welander, Gunilla, et al.
(author)
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Validating vascular access data in the Swedish Renal Registry SRR
- 2021
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In: Journal of Vascular Access. - : Sage Publications. - 1129-7298 .- 1724-6032. ; 22:4, s. 629-634
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Journal article (peer-reviewed)abstract
- Background: All Swedish dialysis units register data on vascular access in the Swedish Renal Registry (SRR). This study assessed external and internal validity of vascular access data in the SRR and its use as a tool in clinical practice. Methods: For external validation, all procedures for placed fistulas, open and endovascular reinterventions registered in the SRR in 2011 to 2017 were cross-matched with data from the Swedish National Patient Registry. A two-stage sampling selected 12/60 dialysis units for internal validation. Data on current vascular access for 10 randomly selected patients at each unit were compared with medical record data. SRR data on placed fistulas from 2017 were cross-checked with data from local surgical units. Registrations of central venous catheters (CVCs) as temporary or permanent were used as a proxy for clinical utilization of the registry and analyzed separately. Results: External validity increased from 74% to 83% during the observation period. In all, 1037 datapoints were used in internal validation, with a 95% match between SRR registrations and medical records. Registrations of CVCs, fistulas, and interventions were reliable, with few missing data or mismatches. Vascular access type initiating hemodialysis was missing or incorrect in either the SRR or medical records for 14/120 patients. Registrations of placed fistulas in 2017 matched in all but four (pre-dialysis stage) of 135 cases. Some 35% of the CVCs validated (n = 49) at 7/12 units were not categorized as temporary or permanent. Conclusion: The SRR provides a reliable resource on current vascular access care.
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