The expansion of rainfed agriculture, especially soybean cultivation in sub-humid plains, alters water balance and the exchange between groundwater-surface water (GW-SW). However, to date, there are no studies that analyze how these anthropic disturbances affect hydrological connectivity in these systems, especially the GW-SW interactions. The objective of this study is to analyze how the increase in rainfed agriculture affects the spatio-temporal patterns of the water balance and the GW-SW interaction.
View Article and Find Full Text PDFObjectives: To estimate the incidence of clinical fragility fractures in postmenopausal women with rheumatoid arthritis (RA) and analyze risk factors for fracture.
Methods: Incidence of clinical fragility fractures in 330 postmenopausal women with RA was compared to that of a control population of 660 age-matched postmenopausal Spanish women. Clinical fractures during the previous five years were recorded.
Background: Schizophrenia patients often show obsessive-compulsive symptoms (OCS) and obsessive-compulsive disorder (OCD) and their presence has been associated with poorer prognosis. However, the impact of OCS/OCD on psychotic severity remains unclear. The aim of this study is twofold: 1) to investigate the effect of OCS/OCD on the severity of positive, negative, and global psychotic symptoms of schizophrenia patients and 2) to analyze the effect of patient and study-related covariates on moderating this relationship.
View Article and Find Full Text PDFThe Chaco-Pampean Plain (Argentina) is the strongest economic region and the most inhabited in the country, comprising approximately 66% of the country's population (26,500 million) [1]. In this region, surface slopes are very low (<0.1%) and due to the current climatological features, floods and droughts alternate over time.
View Article and Find Full Text PDFIsotopes Environ Health Stud
December 2020
The Guaraní Aquifer System (SAG) is the largest transboundary aquifer in Latin America, extending beneath parts of Brazil, Paraguay, Argentina, and Uruguay. This paper presents the results of recent hydrogeological studies in the southern portion of the SAG. Locally, the abundance of surface water bodies precluded the use of conventional hydrological tools to characterize groundwater flows.
View Article and Find Full Text PDFIn order to run a series of in vitro studies on the effect of extremely low-frequency magnetic fields on cell cultures, developing and characterizing an appropriate exposure system is required. The present design is based on a two-shielded Lee-Whiting coils system. The circular design was chosen because its axial symmetry allowed for both reducing simulation unknowns and measurement points during the characterization, and additionally made the machining of the parts easier.
View Article and Find Full Text PDFThe analysis of the impact of climate change on water resources in plains requires integral simulation tools that quantify topographic complexity and the strong interaction of groundwater and surface water components (GW-SW). The objective of this study is to implement a coupled hydrological-hydrogeological model under climate change scenarios in order to quantify the spatio-temporal dynamics of water balance and GW-SW interactions for the upper creek basin of Del Azul, which is located in the center of the province of Buenos Aires. The simulation was carried out for a baseline scenario calibrated and validated for the period 2003-2015 and contrasted with two scenarios of the regional climate model CCSM4, RCP (4.
View Article and Find Full Text PDFSynthetic cannabinoid receptor agonists (SCRAs) have been the largest group of illicit psychoactive substances reported to international monitoring and early warning systems for many years. Carboxamide-type SCRAs are amongst the most prevalent and potent. Enantiospecific synthesis and characterization of four indazole-3-carboxamides, AMB-FUBINACA, AB-FUBINACA, 5F-MDMB-PINACA (5F-ADB), and AB-CHMINACA is reported.
View Article and Find Full Text PDFThe discordance between genome size and the complexity of eukaryotes can partly be attributed to differences in repeat density. The Muller F element (∼5.2 Mb) is the smallest chromosome in , but it is substantially larger (>18.
View Article and Find Full Text PDFGene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.
View Article and Find Full Text PDFRecurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, we sequence 189 risk genes in 1,543 Chinese ASD probands (1,045 from trios). We report an 11-fold increase in the odds of DN LGD mutations compared with expectation under an exome-wide neutral model of mutation.
View Article and Find Full Text PDFIntellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of 25 individuals with disruptive mutations in POGZ by diagnostic whole-exome, whole-genome, or targeted sequencing of 5,223 individuals with neurodevelopmental disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with ASD and/or ID.
View Article and Find Full Text PDFThe two most exploited aquifers in the Matanza-Riachuelo River basin are being monitored in the framework of the Integrated Environmental Sanitation Plan that implements the Basin Authority, Autoridad de Cuenca Matanza Riachuelo. In this context, this work identifies the groundwater chemical types and the natural processes behind them; determines spatial and temporal changes; establishes ranges of variation for chemical components, and proposes concentration values for the upper limit of the natural chemical background. A total of 1007 samples from three aquifer-layers (Upper Aquifer, top and bottom of Puelche Aquifer) have been studied.
View Article and Find Full Text PDFDuring the last twenty years Eosinophilic Esophagitis has become one the most important causes of esophageal disfunction in children, food impactation in adolescents and young adults, therapeutic failure in patients with gastroesophageal reflux disease (GERD) and the most frecuent eosinophilic disease of the gastrointestinal tract. We present recommendations for the diagnosis and treatment of the disease based in a systematic review of the literature.
View Article and Find Full Text PDFTo assess the relative impact of inherited and de novo variants on autism risk, we generated a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants (CNVs) from 2,377 families with autism. We find that private, inherited truncating SNVs in conserved genes are enriched in probands (odds ratio = 1.14, P = 0.
View Article and Find Full Text PDFThe Pampean plain is the most productive region in Argentina. The Pampeano Aquifer beneath the Pampean plain is used mostly for drinking water. The study area is the sector of the Pampeano Aquifer underlying the Del Azul Creek basin, in Buenos Aires province.
View Article and Find Full Text PDFAutism spectrum disorder (ASD) has a strong but complex genetic component. Here we report on the resequencing of 64 candidate neurodevelopmental disorder risk genes in 5,979 individuals: 3,486 probands and 2,493 unaffected siblings. We find a strong burden of de novo point mutations for these genes and specifically implicate nine genes.
View Article and Find Full Text PDFWhole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected to unaffected siblings, we show that 13% of de novo missense mutations and 43% of de novo likely gene-disrupting (LGD) mutations contribute to 12% and 9% of diagnoses, respectively.
View Article and Find Full Text PDFRecurrent deletions of chromosome 15q13.3 associate with intellectual disability, schizophrenia, autism and epilepsy. To gain insight into the instability of this region, we sequenced it in affected individuals, normal individuals and nonhuman primates.
View Article and Find Full Text PDFAsthma is a complex genetic disease caused by a combination of genetic and environmental risk factors. We sought to test classes of genetic variants largely missed by genome-wide association studies (GWAS), including copy number variants (CNVs) and low-frequency variants, by performing whole-genome sequencing (WGS) on 16 individuals from asthma-enriched and asthma-depleted families. The samples were obtained from an extended 13-generation Hutterite pedigree with reduced genetic heterogeneity due to a small founding gene pool and reduced environmental heterogeneity as a result of a communal lifestyle.
View Article and Find Full Text PDFApe chromosomes homologous to human chromosomes 14 and 15 were generated by a fission event of an ancestral submetacentric chromosome, where the two chromosomes were joined head-to-tail. The hominoid ancestral chromosome most closely resembles the macaque chromosome 7. In this work, we provide insights into the evolution of human chromosomes 14 and 15, performing a comparative study between macaque boundary region 14/15 and the orthologous human regions.
View Article and Find Full Text PDF