24 research outputs found

    Forensic tri-allelic SNP genotyping using nanopore sequencing

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    The potential and current state-of-the-art of forensic SNP genotyping using nanopore sequencing was investigated with a panel of 16 tri-allelic single nucleotide polymorphisms (SNPs), multiplexing five samples per sequencing run. The sample set consisted of three single-source human genomic reference control DNA samples and two GEDNAP samples, simulating casework samples. The primers for the multiplex SNP-loci PCR were taken from a study which researched their value in a forensic setting using conventional single-base extension technology. Workflows for multiplexed Oxford Nanopore Technologies 1D and 1D(2) sequencing were developed that provide correct genotyping of most SNP loci. Loci that are problematic for nanopore sequencing were characterized. When such loci are avoided, nanopore sequencing of forensic tri-allelic SNPs is technically feasible

    A worldwide survey on incidence, management and prognosis of oesophageal fistula formation following atrial fibrillation catheter ablation: The POTTER-AF study.

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    AIMS Oesophageal fistula represents a rare but dreadful complication of atrial fibrillation catheter ablation. Data on its incidence, management and outcome are sparse. METHODS AND RESULTS This international multicenter registry investigates the characteristics of oesophageal fistulae after treatment of atrial fibrillation by catheter ablation. A total of 553,729 catheter ablation procedures (radiofrequency: 62.9%, cryoballoon: 36.2%, other modalities: 0.9%) were performed at 214 centers in 35 countries. In 78 centers 138 patients (0.025%, radiofrequency: 0.038%, cryoballoon: 0.0015% (p<0.0001)) were diagnosed with an oesophageal fistula. Periprocedural data were available for 118 patients (85.5%). Following catheter ablation, the median time to symptoms and the median time to diagnosis were 18 (7.75, 25; range: 0-60) days and 21 (15, 29.5; range: 2-63) days, respectively. The median time from symptom onset to oesophageal fistula diagnosis was 3 (1, 9; range: 0-42) days. The most common initial symptom was fever (59.3%). The diagnosis was established by chest computed tomography in 80.2% of patients. Oesophageal surgery was performed in 47.4% and direct endoscopic treatment in 19.8%, and conservative treatment in 32.8% of patients. The overall mortality was 65.8%. Mortality following surgical (51.9%) or endoscopic treatment (56.5%) was significantly lower as compared to conservative management (89.5%) (odds ratio 7.463 (2.414, 23.072) p<0.001). CONCLUSIONS Oesophageal fistula after catheter ablation of atrial fibrillation is rare and occurs mostly with the use of radiofrequency energy rather than cryoenergy. Mortality without surgical or endoscopic intervention is exceedingly high

    Integration of scientific and technological progress into practical uses in water resources management

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    This research aimed at examining the integration of scientific and technological progress into practical uses in water resources management and highlighting an existing interface, the WISE-RTD Web Portal that was built to aid the science-policy communication of the European water legislation. It also presents the different possible solutions to address the science-policy and industry communication gaps. Based on the several lessons arising from existing literature, it is noted that challenges to the take up of science in policy stem from the fact that science and policy communities have very different “cultures”. Not only do most members understand each other poorly, in general most scientists have little time to engage with policy makers as their career path usually depends instead on research and scientific publications. Similarly, policy officials have little time to engage with scientists or the scientific information is not easily accessible or adapted to the policy implementation jargon. The two communities also often find themselves working to very different timescales, hence face difficulties of matching in-depth research and reporting with the day-to-day needs of policy making/decisions. Difficulties experienced to date stem from the fact that there is no sufficient streamlining of information from the scientific community to policy decision-makers and vice versa. Solutions consist of science-policy interfacing and communication channels. One such channel currently under development is the WISE-RTD Water Knowledge Portal. It is based on an intelligent matching system that maps research results and water technologies to water policies. Other solutions discussed in the paper are the need for scientists & research projects to establish a “Policy Watch” to anticipate policy evidence requirements and greater interaction, discussion and deliberation between researchers and policy makers is called for. It should also be noted that science-policy interfacing is about people; a focus solely on flows of information will not be able to build effective transfer mechanisms without these interactions.status: publishe

    Molecular diversity of microorganisms in Antarctic lacustrine microbial mats

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    The BeSPO project CCAMBIO aims to study the biogeographical distribution of microorganisms in lacustrine microbial mats using a combination of techniques including microscopical observations (light and electronic), strain isolation, and molecular diversity assessment using Next Generation Sequencing. The samples were collected in different Antarctic and sub-Antarctic biogeographical regions. A multivariate analysis of diatoms showed that these regions hosted different diatom flora. Endemic diatom taxa were also observed, and a multigene molecular phylogeny of Pinnularia borealis showed a high genetic diversity. A new Scenedesmacean species was described from Antarctica, Chodatodesmus australis. A comparison of the bacterial diversity retrieved by cultivation or NGS showed a complementarity of both approaches and differences when different variable regions of the 16S rRNA gene were used. Novel and unclassified sequences, also observed by other authors, were obtained. Pilot studies were conducted for the microeukaryotes and cyanobacteria to select NGS protocols and bioinformatic pipelines. The purpose is to deposit the diversity data in the “Microbial Antarctic Resource System (MARS)” presently developed into the webportal ‘biodiversity.aq’.CCAMBI
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