La instrucción primera durante la dominación española en el territorio que forma actualmente la República Argentina

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Influence of surface chemistry on the electronic properties of graphene related carbon materials

A theoretical study on the influence of organic functional groups on the electronic properties of graphene related carbon materials was carried out. Here we report, using density functional theory and tight-binding approach, that the best candidates for conducting supramolecular devices can be obtained by engineering the surface chemistry and stacking conformation of these materials

Combining punctual and high frequency data for the spatiotemporal assessment of main geochemical processes and dissolved exports in an urban river catchment

The assessment of dissolved loadings and the sources of these elements in urban catchments' rivers is usually measured by punctual sampling or through high frequency sensors. Nevertheless, the combination of both methodologies has been less common even though the information they give is complementary. Major ion (Ca2+, Mg2+, Na+, K+, Cl−, SO42−, and alkalinity), organic matter (expressed as Dissolved Organic Carbon, DOC), and nutrients (NO3−, and PO43−) are punctually measured in the Deba river urban catchment (538 km2), in the northern part of the Iberian Peninsula (draining to the Bay of Biscay). Discharge, precipitation, and Electrical Conductivity (EC) are registered with a high frequency (10 min) in three gauging stations. The combination of both methodologies has allowed the assessment of major geochemical processes and the extent of impact of anthropogenic input on major composition of riverine water, as well as its spatial and temporal evolution. Three methodologies for loading estimation have been assessed and the error committed in the temporal aggregation is quantified. Results have shown that, even though carbonates dominate the draining area, the water major ion chemistry is governed by an evaporitic spring in the upper part of the catchment, while anthropogenic input is specially noted downstream of three wastewater treatment plants, in all nutrients and organic matter. The results of the present work illustrate how the combination of two monitoring methodologies allows for a better assessment of the spatial and temporal evolution on the major water quality in an urban catchment

A model for evaluating continental chemical weathering from riverine transports of dissolved major elements at a global scale

This study presents a process-based-empirical model for the assessment of ionic fluxes derived from chemical weathering of rocks (ICWR) at a global scale. The equations are designed and the parameters fitted using riverine transport of dissolved major ions Ca2+, Mg2+, K+, Na+, Cl−, SO42−, and alkalinity at a global scale by combining point sampling analysis with spatial descriptions of hydrology, climate, topography, lithology and soil variables such as mineral composition and regolith thickness. Different configurations of the model are considered and the results show that the previously reported “soil shielding” effect on chemical weathering (CW) of rocks presents different values for each of the ions considered. Overall, there is good agreement between median and ranges in observed and simulated data, but further analysis is required to downscale the model to catchment scale. Application to the global scale provides the first global ICWR map, resulting in an average cationic flux derived from chemical weathering of 734·106 Mg·y−1, where 58% is Ca2+, 15% is Mg2+, 24% is Na+ and 3% is K+, and an average anionic flux derived from chemical weathering of 2640·106 Mg·y−1, where 74% is alkalinity, 18% is SO42−, and 8% is Cl−. Hyperactive and hotspot areas are elucidated and compared between ions

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

AIMS: Calmodulinopathy due to mutations in any of the three CALM genes (CALM1-3) causes life-threatening arrhythmia syndromes, especially in young individuals. The International Calmodulinopathy Registry (ICalmR) aims to define and link the increasing complexity of the clinical presentation to the underlying molecular mechanisms. METHODS AND RESULTS: The ICalmR is an international, collaborative, observational study, assembling and analysing clinical and genetic data on CALM-positive patients. The ICalmR has enrolled 140 subjects (median age 10.8 years [interquartile range 5-19]), 97 index cases and 43 family members. CALM-LQTS and CALM-CPVT are the prevalent phenotypes. Primary neurological manifestations, unrelated to post-anoxic sequelae, manifested in 20 patients. Calmodulinopathy remains associated with a high arrhythmic event rate (symptomatic patients, n = 103, 74%). However, compared with the original 2019 cohort, there was a reduced frequency and severity of all cardiac events (61% vs. 85%; P = .001) and sudden death (9% vs. 27%; P = .008). Data on therapy do not allow definitive recommendations. Cardiac structural abnormalities, either cardiomyopathy or congenital heart defects, are present in 30% of patients, mainly CALM-LQTS, and lethal cases of heart failure have occurred. The number of familial cases and of families with strikingly different phenotypes is increasing. CONCLUSION: Calmodulinopathy has pleiotropic presentations, from channelopathy to syndromic forms. Clinical severity ranges from the early onset of life-threatening arrhythmias to the absence of symptoms, and the percentage of milder and familial forms is increasing. There are no hard data to guide therapy, and current management includes pharmacological and surgical antiadrenergic interventions with sodium channel blockers often accompanied by an implantable cardioverter-defibrillator

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.

Aims To clarify the clinical characteristics and outcomes of children with SCN5A-mediated disease and to improve their risk stratification. Methods and results A multicentre, international, retrospective cohort study was conducted in 25 tertiary hospitals in 13 countries between 1990 and 2015. All patients ≤16 years of age diagnosed with a genetically confirmed SCN5A mutation were included in the analysis. There was no restriction made based on their clinical diagnosis. A total of 442 children {55.7% boys, 40.3% probands, median age: 8.0 [interquartile range (IQR) 9.5] years} from 350 families were included; 67.9% were asymptomatic at diagnosis. Four main phenotypes were identified: isolated progressive cardiac conduction disorders (25.6%), overlap phenotype (15.6%), isolated long QT syndrome type 3 (10.6%), and isolated Brugada syndrome type 1 (1.8%); 44.3% had a negative electrocardiogram phenotype. During a median follow-up of 5.9 (IQR 5.9) years, 272 cardiac events (CEs) occurred in 139 (31.5%) patients. Patients whose mutation localized in the C-terminus had a lower risk. Compound genotype, both gain- and loss-of-function SCN5A mutation, age ≤1 year at diagnosis in probands and age ≤1 year at diagnosis in non-probands were independent predictors of CE. Conclusion In this large paediatric cohort of SCN5A mutation-positive subjects, cardiac conduction disorders were the most prevalent phenotype; CEs occurred in about one-third of genotype-positive children, and several independent risk factors were identified, including age ≤1 year at diagnosis, compound mutation, and mutation with both gain- and loss-of-function

Workshop on the production of abundance estimates for sensitive species (WKABSENS). ICES Scientific Reports, 3:96.

The Workshop on the production of annual estimates of abundance of sensitive species (WKABSENS) met to define sensitive species, collate ICES assessments of abundance where these are available, and estimate indices of their abundance per swept-area where not, for the OSPAR area. The analyses identified 140 potentially sensitive species or species complexes, among which 10 are diadromous and three are coastal, 20 have uncertain species ID and nine were identified as sensitive in only one of the sources examined. Among the sensitive species and species complexes, there was sufficient data to provide abundance indices for 50 species, of which 16 had existing stock assessments whereas the workshop derived abundance estimates for the remaining 34 species from survey data. Three statistical modelling approaches (binomial, General Additive Models (GAMs) and VAST) and were explored and the final abundance indices were calculated using GAMs. The species were divided into stocks before estimating abundance indices where these could be identified from the spatial distribution of the species in the survey. The group considered that a similar analysis using data from additional surveys, commercial indices or data from bycatch observers can potentially provide improved abundance estimates for species with variable or low catchability, such as deep-water and pelagic species

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

Genetic association studies have identified 21 loci associated with atopic dermatitis risk predominantly in populations of European ancestry. To identify further susceptibility loci for this common, complex skin disease, we performed a meta-analysis of >15 million genetic variants in 21,399 cases and 95,464 controls from populations of European, African, Japanese and Latino ancestry, followed by replication in 32,059 cases and 228,628 controls from 18 studies. We identified ten new risk loci, bringing the total number of known atopic dermatitis risk loci to 31 (with new secondary signals at four of these loci). Notably, the new loci include candidate genes with roles in the regulation of innate host defenses and T cell function, underscoring the important contribution of (auto)immune mechanisms to atopic dermatitis pathogenesis

From Science to Evidence – How Biodiversity Indicators Can Be Used for Effective Marine Conservation Policy and Management

Indicators are effective tools for summarizing and communicating key aspects of ecosystem state and have a long record of use in marine pollution and fisheries management. The application of biodiversity indicators to assess the status of species, habitats, and functional diversity in marine conservation and policy, however, is still developing and multiple indicator roles and features are emerging. For example, some operational biodiversity indicators trigger management action when a threshold is reached, while others play an interpretive, or surveillance, role in informing management. Links between biodiversity indicators and the pressures affecting them are frequently unclear as links can be obscured by environmental change, data limitations, food web dynamics, or the cumulative effects of multiple pressures. In practice, the application of biodiversity indicators to meet marine conservation policy and management demands is developing rapidly in the management realm, with a lag before academic publication detailing indicator development. Making best use of biodiversity indicators depends on sharing and synthesizing cutting-edge knowledge and experience. Using lessons learned from the application of biodiversity indicators in policy and management from around the globe, we define the concept of ‘biodiversity indicators,’ explore barriers to their use and potential solutions, and outline strategies for their effective communication to decision-makers