Airborne electromagnetic imaging of discontinuous permafrost

The evolution of permafrost in cold regions is inextricably connected to hydrogeologic processes, climate, and ecosystems. Permafrost thawing has been linked to changes in wetland and lake areas, alteration of the groundwater contribution to stream flow, carbon release, and increased fire frequency. But detailed knowledge about the dynamic state of permafrost in relation to surface and groundwater systems remains an enigma. Here, we present the results of a pioneering ~1,800 line-kilometer airborne electromagnetic survey that shows sediments deposited over the past ~4 million years and the configuration of permafrost to depths of ~100 meters in the Yukon Flats area near Fort Yukon, Alaska. The Yukon Flats is near the boundary between continuous permafrost to the north and discontinuous permafrost to the south, making it an important location for examining permafrost dynamics. Our results not only provide a detailed snapshot of the present-day configuration of permafrost, but they also expose previously unseen details about potential surface – groundwater connections and the thermal legacy of surface water features that has been recorded in the permafrost over the past 1,000 years. This work will be a critical baseline for future permafrost studies aimed at exploring the connections between hydrogeologic, climatic, and ecological processes, and has significant implications for the stewardship of Arctic environments

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders 1 . They are heritable 2,3 and etiologically related 4,5 behaviors that have been resistant to gene discovery efforts 6–11 . In sample sizes up to 1.2 million individuals, we discovered 566 genetic variants in 406 loci associated with multiple stages of tobacco use (initiation, cessation, and heaviness) as well as alcohol use, with 150 loci evidencing pleiotropic association. Smoking phenotypes were positively genetically correlated with many health conditions, whereas alcohol use was negatively correlated with these conditions, such that increased genetic risk for alcohol use is associated with lower disease risk. We report evidence for the involvement of many systems in tobacco and alcohol use, including genes involved in nicotinic, dopaminergic, and glutamatergic neurotransmission. The results provide a solid starting point to evaluate the effects of these loci in model organisms and more precise substance use measures

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Background Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. Methods We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. Results Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. Conclusions Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.Peer reviewe

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates. Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities

Association of whole-genome and NETRIN1 signaling pathway-derived polygenic risk scores for Major Depressive Disorder and white matter microstructure in UK Biobank

Background: Major depressive disorder is a clinically heterogeneous psychiatric disorder with a polygenic architecture. Genome-wide association studies have identified a number of risk-associated variants across the genome and have reported growing evidence of NETRIN1 pathway involvement. Stratifying disease risk by genetic variation within the NETRIN1 pathway may provide important routes for identification of disease mechanisms by focusing on a specific process, excluding heterogeneous risk-associated variation in other pathways. Here, we sought to investigate whether major depressive disorder polygenic risk scores derived from the NETRIN1 signaling pathway (NETRIN1-PRSs) and the whole genome, excluding NETRIN1 pathway genes (genomic-PRSs), were associated with white matter microstructure. Methods: We used two diffusion tensor imaging measures, fractional anisotropy (FA) and mean diffusivity (MD), in the most up-to-date UK Biobank neuroimaging data release (FA: n = 6401; MD: n = 6390). Results: We found significantly lower FA in the superior longitudinal fasciculus (β = −.035, p =.029) and significantly higher MD in a global measure of thalamic radiations (β =.029, p =.021), as well as higher MD in the superior (β =.034, p =.039) and inferior (β =.029, p =.043) longitudinal fasciculus and in the anterior (β =.025, p =.046) and superior (β =.027, p =.043) thalamic radiation associated with NETRIN1-PRS. Genomic-PRS was also associated with lower FA and higher MD in several tracts. Conclusions: Our findings indicate that variation in the NETRIN1 signaling pathway may confer risk for major depressive disorder through effects on a number of white matter tracts

Extending Airborne Electromagnetic Surveys for Regional Active Layer and Permafrost Mapping with Remote Sensing and Ancillary Data, Yukon Flats Ecoregion, Central Alaska

Machine-learning regression tree models were used to extrapolate airborne electromagnetic resistivity data collected along flight lines in the Yukon Flats Ecoregion, central Alaska, for regional mapping of permafrost. This method of extrapolation (r = 0.86) used subsurface resistivity, Landsat Thematic Mapper (TM) at-sensor reflectance, thermal, TM-derived spectral indices, digital elevation models and other relevant spatial data to estimate near-surface (0–2.6-m depth) resistivity at 30-m resolution. A piecewise regression model (r = 0.82) and a presence/absence decision tree classification (accuracy of 87%) were used to estimate active-layer thickness (ALT) (\u3c 101 cm) and the probability of near-surface (up to 123-cm depth) permafrost occurrence from field data, modelled near-surface (0–2.6m) resistivity, and other relevant remote sensing and map data. At site scale, the predicted ALTs were similar to those previously observed for different vegetation types. At the landscape scale, the predicted ALTs tended to be thinner on higher-elevation loess deposits than on low-lying alluvial and sand sheet deposits of the Yukon Flats. The ALT and permafrost maps provide a baseline for future permafrost monitoring, serve as inputs for modelling hydrological and carbon cycles at local to regional scales, and offer insight into the ALT response to fire and thaw processes. Published 2013. This article is a U.S. Government work and is in the public domain in the USA

Soil carbon distribution in Alaska in relation to soil-forming factors

The direction and magnitude of soil organic carbon (SOC) changes in response to climate change remain unclear and depend on the spatial distribution of SOC across landscapes. Uncertainties regarding the fate of SOC are greater in high-latitude systems where data are sparse and the soils are affected by sub-zero temperatures. To address these issues in Alaska, a first-order assessment of data gaps and spatial distributions of SOC was conducted from a recently compiled soil carbon database. Temperature and landform type were the dominant controls on SOC distribution for selected ecoregions. Mean SOC pools (to a depth of 1-m) varied by three, seven and ten-fold across ecoregion, landform, and ecosystem types, respectively. Climate interactions with landform type and SOC were greatest in the uplands. For upland SOC there was a six-fold non-linear increase in SOC with latitude (i.e., temperature) where SOC was lowest in the Intermontane Boreal compared to the Arctic Tundra and Coastal Rainforest. Additionally, in upland systems mineral SOC pools decreased as climate became more continental, suggesting that the lower productivity, higher decomposition rates and fire activity, common in continental climates, interacted to reduce mineral SOC. For lowland systems, in contrast, these interactions and their impacts on SOC were muted or absent making SOC in these environments more comparable across latitudes. Thus, themagnitudes of SOC change across temperature gradients were non-uniformand depended on landform type. Additional factors that appeared to be related to SOC distribution within ecoregions included stand age, aspect, and permafrost presence or absence in black spruce stands. Overall, these results indicate the influence of major interactions between temperature-controlled decomposition and topography on SOC in high-latitude systems. However, there remains a need for more SOC data from wetlands and boreal-region permafrost soils, especially at depths\u3e1 m in order to fully understand the effects of climate on soil carbon in Alaska

Economics at the FCC, 2008–2009: Broadband and Merger Review

Broadband, Broadband deployment, Broadband adoption, Unserved areas, Underserved areas, FCC form 477, National broadband plan, Economic impacts of Broadband, Merger review, Optimal penalties,

Timely Colonoscopy After Positive Fecal Immunochemical Tests in the Veterans Health Administration: A Qualitative Assessment of Current Practice and Perceived Barriers.

IntroductionThe Veterans Health Administration introduced a clinical reminder system in 2018 to help address process gaps in colorectal cancer screening, including the diagnostic evaluation of positive fecal immunochemical test (FIT) results. We conducted a qualitative study to explore the differences between facilities who performed in the top vs bottom decile for follow-up colonoscopy.MethodsSeventeen semistructured interviews with gastroenterology (GI) providers and staff were conducted at 9 high-performing and 8 low-performing sites.ResultsWe identified 2 domains, current practices and perceived barriers, and most findings were described by both high- and low-performing sites. Findings exclusive to 1 group mainly pertained to current practices, especially arranging colonoscopy for FIT-positive patients. We observed only 1 difference in the perceived barriers domain, which pertained to primary care providers.DiscussionThese results suggest that what primarily distinguishes high- and low-performing sites is not a difference in barriers but rather in the GI clinical care process. Developing and disseminating patient education materials about the importance of diagnostic colonoscopy, eliminating in-person precolonoscopy visits when clinically appropriate, and involving GI in missed colonoscopy appointments and outside referrals should all be considered to increase follow-up colonoscopy rates. Our study illustrates the challenges of performing a timely colonoscopy after a positive FIT result and provides insights on improving the clinical care process for patients who are at substantially increased risk for colorectal cancer