403 research outputs found
Utilization of Genetic Counseling after DirectâtoâConsumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study
Directâtoâconsumer personal genomic testing (DTCâPGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers and why they seek GC services. We analyzed survey data preâ and postâPGT from 1026 23andMe and Pathway Genomics customers. Participants were mostly white (91%), female (60%), and of high socioeconomic status (80% college educated, 43% household income of â„$100,000). After receiving PGT results, 43 participants (4%) made or planned to schedule an appointment with a genetic counselor; 390 (38%) would have used inâperson GC had it been available. Compared to nonâseekers, GC seekers were younger (mean age of 38 vs 46 years), more frequently had children <18 (26% vs 16%), and were more likely to report previous GC (37% vs 7%) and genetic testing (30% vs 15%). In logistic regression analysis, seeking GC was associated with previous GC use (OR = 6.5, CI = 3.1â13.8), feeling motivated to pursue DTCâPGT for health reasons (OR = 4.3, CI = 1.8â10.1), fair or poor selfâreported health (OR = 3.1, CI = 1.1â8.3), and selfâreported uncertainty about the results (OR = 1.8, CI = 1.1â2.7). These findings can help GC providers anticipate who might seek GC services and plan for clinical discussions of DTCâPGT results.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146977/1/jgc41270.pd
Draft Genome Sequence of Venenivibrio stagnispumantis CP.B2T, Isolated from Champagne Pool, Waiotapu, Aotearoa-New Zealand.
Venenivibrio stagnispumantis strain CP.B2T is a thermophilic, chemolithoautotrophic bacterium from the family Hydrogenothermaceae (phylum Aquificota), isolated from Champagne Pool in the Waiotapu geothermal field, Aotearoa-New Zealand. The genome consists of 1.73 Mbp in 451 contigs with a 30.8 mol% G+C content
Fish-Kills in the Urban Stretch of the Tiber River After a Flash-Storm: Investigative Monitoring with Effect-Based Methods, Targeted Chemical Analyses, and Fish Assemblage Examinations
In 2020 and 2021, fish-kills events occurred in the Tiber river in the city of Rome. These events, which caused the death of thousands of fish of different species (e.g., Barbus spp., Cyprinus carpio, Squalius spp.), were preceded the days before by severe flash-storms. Heavy rains in urban areas in recent years are linked to climate change and fish-kills events. With the aim to investigate the causes of these events, effect-based methods (EBMs) and targeted chemical analyses have been performed on a specific site of river Tiber in the center of the city. Additionally, examination and classification of the floating dead fishes have been performed. The chemical analysis performed on several groups of contaminants showed the presence of some pharmaceuticals, insecticides, and PFAS at up to ng/L. Results with the Fish Embryo Toxicity (FET) test confirmed lethal and sub-lethal effects, while acute effects were not detected with the Daphnia magna acute test. The fish-kills events probably can be generated by several factors as a consequence of an increasing human anthropization of the area with the contribution of different stressors together with chemical releases and emissions. This study shows that in multiple stressor scenarios characterized by heavy rainfall, droughts, and strong anthropogenic pressures, the application of EBMs, chemical analysis, and fish assemblage examinations can represent a useful support in the investigation of the causes of extensive fish-kills events
Thermophilic methane oxidation is widespread in Aotearoa-New Zealand geothermal fields
Geothermal areas represent substantial point sources for greenhouse gas emissions such as methane. While it is known that methanotrophic microorganisms act as a biofilter, decreasing the efflux of methane in most soils to the atmosphere, the diversity and the extent to which methane is consumed by thermophilic microorganisms in geothermal ecosystems has not been widely explored. To determine the extent of biologically mediated methane oxidation at elevated temperatures, we set up 57 microcosms using soils from 14 Aotearoa-New Zealand geothermal fields and show that moderately thermophilic (>40°C) and thermophilic (>60°C) methane oxidation is common across the region. Methane oxidation was detected in 54% (n = 31) of the geothermal soil microcosms tested at temperatures up to 75°C (pH 1.5â8.1), with oxidation rates ranging from 0.5 to 17.4 ÎŒmol gâ1 dâ1 wet weight. The abundance of known aerobic methanotrophs (up to 60.7% Methylacidiphilum and 11.2% Methylothermus) and putative anaerobic methanotrophs (up to 76.7% Bathyarchaeota) provides some explanation for the rapid rates of methane oxidation observed in microcosms. However, not all methane oxidation was attributable to known taxa; in some methane-consuming microcosms we detected methanotroph taxa in conditions outside of their known temperature range for growth, and in other examples, we observed methane oxidation in the absence of known methanotrophs through 16S rRNA gene sequencing. Both of these observations suggest unidentified methane oxidizing microorganisms or undescribed methanotrophic syntrophic associations may also be present. Subsequent enrichment cultures from microcosms yielded communities not predicted by the original diversity studies and showed rates inconsistent with microcosms (â€24.5 ÎŒmol dâ1), highlighting difficulties in culturing representative thermophilic methanotrophs. Finally, to determine the active methane oxidation processes, we attempted to elucidate metabolic pathways from two enrichment cultures actively oxidizing methane using metatranscriptomics. The most highly expressed genes in both enrichments (methane monooxygenases, methanol dehydrogenases and PqqA precursor peptides) were related to methanotrophs from Methylococcaceae, Methylocystaceae and Methylothermaceae. This is the first example of using metatranscriptomics to investigate methanotrophs from geothermal environments and gives insight into the metabolic pathways involved in thermophilic methanotrophy
Complex patterns of collective escape in starling flocks under predation
Collective behaviour of animals has been a main focus of recent research, yet few empirical studies deal with this issue in the context of predation, a major driver of social complexity in many animal species. When starling (Sturnus vulgaris) flocks are under attack by a raptor, such as a peregrine falcon (Falco peregrinus), they show a great diversity of patterns of collective escape. The corresponding structural complexity concerns rapid variation in density and shape of the flock over time. Here, we present a first step towards unravelling this complexity. We apply a time series analysis to video footage of 182 sequences of hunting by falcons on flocks of thousands of starlings close to two urban roosts during winter. We distinguish several types of collective escape by determining the position and movement of individuals relative to each other (which determines darkness and shape of the flock over time) as well as relative to the predator, namely flash expansion', blackening', wave event', vacuole', cordon' and split'. We show that the specific type of collective escape depends on the collective pattern that precedes it and on the level of threat posed by the raptor. A wave event was most likely to occur when the predator attacked at medium speed. Flash expansion occurred more frequently when the predator approached the flock at faster rather than slower speed and attacked from above rather than from the side or below. Flash expansion was often followed by split, but in many cases, the flock showed resilience by remaining intact. During a hunting sequence, the frequencies of different patterns of collective escape increased when the frequency of attack by the raptor was higher. Despite their complexity, we show that patterns of collective escape depend on the predatory threat, which resembles findings in fish.Significance statementPatterns of collective escape in flocks of starlings have always intrigued laymen and scientists. A detailed analysis of their complex dynamics has been lacking so far, and is the focus of our present study: we analysed video footage of hunting by falcons on flocks of thousands of starlings and show how patterns of collective escape (namely flash expansion, blackening, wave event, vacuole, cordon and split) depend on the preceding pattern and on details of attack. A higher frequency of attack during a hunting sequence resulted in a higher frequency of collective escape events. Flash expansion happened most often when the predator attacks at greater speed. A wave event was most likely when the raptor attacks at medium (rather than high or low) speed. These results provide a first quantitative approach to social complexity in collective avoidance of a predator
Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers
Designed in collaboration with 23andMe and Pathway Genomics, the Impact of Personal Genomics (PGen) Study serves as a model for academic-industry partnership and provides a longitudinal dataset for studying psychosocial, behavioral, and health outcomes related to direct-to-consumer personal genomic testing (PGT). Web-based surveys administered at three time points, and linked to individual-level PGT results, provide data on 1,464 PGT customers, of which 71% completed each follow-up survey and 64% completed all three surveys. The cohort includes 15.7% individuals of non-white ethnicity, and encompasses a range of income, education, and health levels. Over 90% of participants agreed to re-contact for future research. Electronic supplementary material The online version of this article (doi:10.1186/s13073-014-0096-0) contains supplementary material, which is available to authorized users
Toxicity and genotoxicity of wastewater from gasoline stations
The toxicity and genotoxicity of wastewater from eight gasoline stations in BrasĂlia, Brazil's capital city, was studied by assessing chromosomal aberrations, chromosomal malsegregation and the mitotic index in Alliumcepa root cells, and the occurrence of micronucleus and nuclear abnormalities in peripheral erythrocytes of tilapia fish (Oreochromis niloticus). The content of gasoline station effluents was also analyzed based on several physico-chemical parameters. None of the wastewater samples was genotoxic to A. cepa root cells, although cell proliferation was significantly inhibited, especially at the highest concentrations. Likewise, no micronuclei were observed in O. niloticus peripheral erythrocytes, even after exposure to high concentrations, but there was an increase in the number of nuclear abnormalities and fish mortality. These results show that although the effluent from gasoline stations is processed by an oil/water separation system before being discharged into the main sewage system, the wastewater still contains toxic compounds
A genus in the bacterial phylum Aquificota appears to be endemic to Aotearoa-New Zealand.
Allopatric speciation has been difficult to examine among microorganisms, with prior reports of endemism restricted to sub-genus level taxa. Previous microbial community analysis via 16S rRNA gene sequencing of 925 geothermal springs from the TaupĆ Volcanic Zone (TVZ), Aotearoa-New Zealand, revealed widespread distribution and abundance of a single bacterial genus across 686 of these ecosystems (pH 1.2-9.6 and 17.4-99.8â°C). Here, we present evidence to suggest that this genus, Venenivibrio (phylum Aquificota), is endemic to Aotearoa-New Zealand. A specific environmental niche that increases habitat isolation was identified, with maximal read abundance of Venenivibrio occurring at pH 4-6, 50-70â°C, and low oxidation-reduction potentials. This was further highlighted by genomic and culture-based analyses of the only characterised species for the genus, Venenivibrio stagnispumantis CP.B2T, which confirmed a chemolithoautotrophic metabolism dependent on hydrogen oxidation. While similarity between Venenivibrio populations illustrated that dispersal is not limited across the TVZ, extensive amplicon, metagenomic, and phylogenomic analyses of global microbial communities from DNA sequence databases indicates Venenivibrio is geographically restricted to the Aotearoa-New Zealand archipelago. We conclude that geographic isolation, complemented by physicochemical constraints, has resulted in the establishment of an endemic bacterial genus
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