General Hydrography of the Beagle Channel, a Subantarctic Interoceanic Passage at the Southern Tip of South America

The Beagle Channel (BC) is a long and narrow interoceanic passage (∼270 km long and 1–12 km wide) with west-east orientation and complex bathymetry connecting the Pacific and Atlantic oceans at latitude 55°S. This study is the first integrated assessment of the main oceanographic features of the BC, using recent oceanographic observations from cruises, moored instruments and historical observations. The waters transported into the BC are supplied mainly by the Cape Horn Current, which carries Subantarctic Water (SAAW) at depth (100 m below surface) along the Pacific Patagonian continental shelf break. SAAW enters the continental shelf via a submarine canyon at the western entrance of the BC. The SAAW is diluted by fresh, nutrient depleted (nitrate, phosphate and silicic acid) Estuarine Water (EW) from Cordillera Darwin Ice Field (CDIF) forming modified SAAW (mSAAW). Freshwater inputs from the CDIF generate a two-layer system with a sharp pycnocline which delimits the vertical distribution of phytoplankton fluorescence (PF). Two shallow sills (<70 m) along the BC contribute to EW and mSAAW mixing and the homogenization of the entire water column east of the sills, coherent with Bernoulli aspiration. The central section of the BC, extending ∼100 km toward the east, is filled by a salty (31–32) variety of EW. In winter, this central section is nearly vertically homogeneous with low nutrient concentrations (0.9–1.1 μM PO4 and 7.5–10 μM NO3) and PF. The temporal variability of seawater temperature from 50 to 195 m in the central section of the BC was found to be mostly dominated by the annual and semiannual cycles and influenced by tidal forcing. The middle section of the BC was less influenced by oceanic inputs and its basin-like structure most likely favors retention, which was observed from the weakly stratified water column at the mooring site. Toward the east, the central section bathymetry is disrupted at Mackinlay Strait where another shallow sill separates the middle channel from the shallow eastern entrance that connects to the Atlantic Ocean. In this section, a weakly stratified two-layer system is formed when the eastward surface outflow (salty-EW) flows over a deeper, denser tongue of oceanic mSAAW.Fil: Giesecke Astorga, Claudio Ricardo. Universidad Austral de Chile; ChileFil: Martín de Nascimento, Jacobo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Austral de Investigaciones Científicas; Argentina. Universidad Nacional de Tierra del Fuego, Antártida e Islas del Atlántico Sur. Instituto de Ciencias Polares, Ambientales y Recursos Naturales; ArgentinaFil: Piñones, Andrea. Universidad Austral de Chile; ChileFil: Höfer, Juan. Pontificia Universidad Católica de Valparaíso; ChileFil: Garcés Vargas, Jose. Universidad Austral de Chile; ChileFil: Flores Melo, Elizabeth Ximena. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Austral de Investigaciones Científicas; ArgentinaFil: Alarcón, Emilio. Universidad Austral de Chile; ChileFil: Durrieu de Madron, Xavier. Centre National de la Recherche Scientifique; FranciaFil: Bourrin, François. Centre National de la Recherche Scientifique; FranciaFil: González, Humberto E.. Universidad Austral de Chile; Chil

Occurrence and diffusive air-seawater exchanges of organochlorine pesticides (OCPs) and polychlorinated biphenyls (PCBs) in Fildes Bay, King George Island, Antarctica

We report the levels of organochlorine pesticides (OCPs) and polychlorinated biphenyls (PCBs) in seawater and air, and the air-sea dynamics through diffusive exchange analysis in Fildes Bay, King George Island, Antarctica, between November 2019 and January 30, 2020. Hexachlorobenzene (HCB) was the most abundant compound in both air and seawater with concentrations around 39 ± 2.1 pg m−3 and 3.2 ± 2.4 pg L−1 respectively. The most abundant PCB congener was PCB 11, with a mean of 3.16 ± 3.7 pg m−3 in air and 2.0 ± 1.1 pg L−1 in seawater. The fugacity gradient estimated for the OCP compounds indicate a predominance of net atmospheric deposition for HCB, α-HCH, γ-HCH, 4,4′-DDT, 4,4′-DDE and close to equilibrium for the PeCB compound. The observed deposition of some OCs may be driven by high biodegradation rates and/or settling fluxes decreasing the concentration of these compounds in surface waters, which is supported by the capacity of microbial consortium to degrade some of these compounds. The estimated fugacity gradients for PCBs showed differences between congeners, with net volatilization predominating for PCB-9, a trend close to equilibrium for PCB congeners 11, 28, 52, 101, 118, 138, and 153, and deposition for PCB 180. Snow amplification may play an important role for less hydrophobic PCBs, with volatilization predominating after snow/glacier melting. As hydrophobicity increases, the biological pump decreases the concentration of PCBs in seawater, reversing the fugacity gradient to atmospheric deposition. This study highlights the potential impacts of climate change, through glacier retreat, on the biogeochemistry of POPs, remobilizing those compounds previously trapped within the cryosphere which in turn will transform the Antarctic cryosphere into a secondary source of the more volatile POPs in coastal areas, influenced by snow and ice melting

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Abstract The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared to information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known non-pathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification. This article is protected by copyright. All rights reserved.Peer reviewe

Holocene changes in forest composition in northern Patagonia responded to climate with little impact of disturbance

Here we present pollen and charcoal counts from a small lake located within the Lanín National Park, Argentina (40°12'S; 71°30'W; 1095 m a.s.l). The lacustrine sediment core was retrieved in January 2017. Pollen samples of 0.5 cm^3 were taken every 2 cm, avoiding tephra sections. Before and after major tephra layers the sampling was carried out at an interval of 1 cm. Processing of samples for pollen analysis was conducted following Bennett and Willis (2001; doi:10.1007/0-306-47668-1), including hydrofluoric acid and acetolysis. Samples with coarse particles were sieved at 120 µm. To reconstruct the past fire regime, macroscopic charcoal particles were counted in 1 cm^3 samples contiguously along the core at 1 cm intervals avoiding tephra layers wider than 1 cm. The samples were processed according to the methodology by Stevenson and Haberle (2005; hdl:1885/144170). Particles > 125 µm were counted under a binocular dissecting microscope (Whitlock and Anderson, 2003; doi:10.1007/0-387-21710-X_1)

How will the main risk factors contribute to the burden of non-communicable diseases under different scenarios by 2050? A modelling study

Background: The future burden of non-communicable diseases (NCDs) depends on numerous factors such as population ageing, evolution of societal trends, behavioural and physiological risk factors of individuals (e.g. smoking, alcohol use, obesity, physical inactivity, and hypertension). This study aims to assess the burden of NCDs in Europe by 2050 under alternative scenarios. Methods: This study combines qualitative and quantitative forecasting techniques to examine how population health in Europe may evolve from 2015 to 2050, taking into account future societal trends. Four scenarios were developed (one business-as-usual scenario, two response scenarios and one pessimistic scenario) and assessed against ‘best’ and ‘worst’-case scenarios. This study provides quantitative estimates of both diseases and mortality outcomes, using a microsimulation model incorporating international survey data. Findings: Each scenario is associated with a different risk factor prevalence rate across Europe during the period 2015–2050. The prevalence and incidence of NCDs consistently increase during the analysed time period, mainly driven by population ageing. In more optimistic scenarios, diseases will appear in later ages, while in the pessimistic scenarios, NCDs will impair working-age people. Life expectancy is expected to grow in all scenarios, but with differences by up to 4 years across scenarios and population groups. Premature mortality from NCDs will be reduced in more optimistic scenarios but stagnate in the worst-case scenario. Interpretation: Population ageing will have a greater impact on the spread of NCDs by 2050 compared to risk factors. Nevertheless, risk factors, which are influenced by living environments, are an important factor for determining future life expectancy in Europe

Induction of tumor peptide-specific cytotoxic T cells under serum-free conditions by mature human dendritic cells

Tumor vaccination strategies using antigen-pulsed dendritic cells (DC) are currently under development. We established an in vitro system using cultured DC from HLA-typed volunteers for the induction of tumor peptide-specific CD8+ T cells. The strength and specificity of the resulting CTL responses were investigated. For stimulation of syngeneic CD8+ T cells two well-defined DC populations were generated: CD1a+ immature DC cultured in the presence of GM-CSF and IL-4 and mature CD83+ DC generated by additional stimulation with a cytokine cocktail. Stimulations were performed under serum-free conditions and in the absence of exogenous cytokines. Analysis of T cell responses showed that mature DC, but not immature DC, were able to induce the expansion of syngeneic tumor peptide-specific CD8+ T cells. Priming of CD8+ T cells with peptide-pulsed mature DC rapidly increased the frequency of antigen-specific T cells (ELISPOT technique). T cells induced by mature DC showed strong antigen-specific cytotoxicity in 51Cr-release assays whereas no antigen-specific cytotoxicity was detectable in CTL generated by immature DC. These data show that terminally differentiated mature DC are necessary for the induction of tumor antigen-specific CTL responses