El yeso de Mórrope como aditivo alternativo para la estabilización de suelos arcillosos expansivos

Esta investigación se centra en la utilidad del yeso de Mórrope como un agregado para estabilizar los suelos arcillosos expansivos. Se añadieron diferentes cantidades de yeso de Mórrope en forma proporcional y porcentual en contenido de bentonita. El diseño de la presente investigación es experimental de subtipo cuasi experimental con grupo de control y es causal. El yacimiento del yeso utilizado se ubica geocronológicamente en la era cenozoica, sistema cuaternario pleistoceno marino, serie reciente, dentro de una zona de llanura o planicie aluvial. La composición mineralógica del yeso calcinado de Mórrope arrojó: anhidrita 56,16%, bassanita 41,03% y yeso 2,81%; y la de bentonita: una composición predominante de 37,78% de montmorillonita con agregados cristalinos laminares desde 2 a 10 μm en promedio. Se consiguieron reducciones importantes con la adición del yeso de Mórrope en la bentonita: límite líquido (-25,56%), índice de plasticidad (-27,37%); índice de expansión libre (IEL) (-75,69%); capacidad de intercambio catiónico (CIC) ( -84,46%); y un incremento en la resistencia a la compresión simple de 115,92%. Estas variaciones obtenidas nos indican que el yeso de Mórrope puede usarse como un agregado que estabiliza los suelos arcillosos expansivos

Diseño de aplicativo en Python como soporte de enseñanza aprendizaje para la estabilidad de taludes

The teaching-learning processes nowadays require pedagogical supports that allow the teacher to generate a space of real interaction from the classroom, for the student with his career; the training of professionals in earth sciences or engineering, must be accompanied by the teaching of computer programming, using high-level languages, free download and open source, as a resource applied to the solution of specific problems, presented in the stability of slopes. Here is shown a Python application to calculate and plot the factor of safety of a slope, through a Graphical User Interface (GUI), inserting: libraries, variables, functions and widgets of this language. The safety factor obtained by the application is 1.26, which coincides with that obtained by the manual procedure, the coordinate that plots the safety factor (Fs), to determine its sensitivity, as a function of the reciprocal height of the slope (H-1) on the straight line will be (0.005, 1.26), and the cut-off coordinate will be (0,0.8).Los procesos de enseñanza-aprendizaje, hoy en día requieren de soportes pedagógicos que le permitan al docente generar un espacio de interacción real desde el aula, para el estudiante con su carrera; la formación de profesionales en  ciencias de la tierra o de ingeniería, debe estar acompañada de la enseñanza de programación de computadoras, utilizando lenguajes  de alto nivel, de descarga gratuita y de código abierto, como recurso aplicado a la solución de problemas específicos, presentados en la estabilidad de taludes. Aquí se muestra un aplicativo en Python para calcular y graficar el factor de seguridad de un talud, a través de una Interfaz Gráfica de Usuario (IGU), insertando: librerías, variables, funciones y widgets propias de este lenguaje. El factor de seguridad obtenido por el aplicativo es de 1.26, que coincide con el obtenido por el procedimiento manual, la coordenada que grafica el factor de seguridad (Fs), para determinar su sensibilidad, en función de la altura recíproca del talud (H-1) sobre la recta será de (0.005, 1.26), y la coordenada de corte será de (0,0.8)

Poly-phased fluid flow in the giant fossil pockmark of Beauvoisin, SE basin of France

The giant Jurassic-aged pockmark field of Beauvoisin developed in a 800 m wide depression for over 3.4 Ma during the Oxfordian; it formed below about 600 m water depth. It is composed of sub-sites organized in clusters and forming vertically stacked carbonate lenses encased in marls . This fine-scale study is focused on a detailed analysis of petrographical organization and geochemical signatures of crystals that grew up in early to late fractures of carbonate lenses, surrounding nodules, and tubes that fed them. The isotopic signature (C, O and Sr) shows that at least three different episodes of fluid migration participated to the mineralization processes. Most of the carbonates precipitated when biogenic seepage was active in the shallow subsurface during the Oxfordian. The second phase occurred relatively soon after burial during early Cretaceous and thermogenic fluids came probably from underlying Pliensbachian, Late Toarcian or Bajocian levels. The third phase is a bitumen-rich fluid probably related to these levels reaching the oil window during Mio-Pliocene. The fluids migrated through faults induced by the emplacement of Triassic-salt diapir of Propiac during the Late Jurassic and that remained polyphased drain structures over time

Dystrophinopathy patients with non-contiguous molecular alterations: diagnosis and characterization of the genetic mechanisms involved

Introduction: Dystrophinopathies are neuromuscular X-linked recessive diseases caused by DMD mutations. Molecular alterations in this gene are large deletions/duplications in 80% of cases and small mutations in the remaining. Several authors reported the occurrence of non-contiguous rearrangements within the same DMD allele, with frequencies up to 4%. The present work aims to characterize the incidence of complex rearrangements in an Argentinian dystrophinopathy cohort and unravel the causing molecular mechanisms.Materials and Methods: We analyzed 437 boys with clinical diagnosis of Dystrophinopathy. The following techniques were implemented: MLPA, WES, WGS, PCR-Sanger Sequencing, CGH Array and HUMARA assay. In 2 cases, breakpoints were precisely determined, so we performed a bioinformatic screening of microhomologies, interspersed repeats, secondary structures and recombinogenic motifs 50pb surrounding each breakpoint. Results: We detected 6 patients carrying complex rearrangements in DMD: 2 deletions-duplications, 3 non-contiguous duplications and 1 large deletion plus a 20pb insertion. These accounted for 1.4% of our cohort. In a deletion-duplication case, familial segregation and bioinformatics analysis suggested that the duplication was the first mutagenic event caused by Fork Stalling and Template Switching (FoSTeS), while the deletion occurred secondly by Non-homologous end joining. Furthermore, bioinformatic screening of the deletion plus insertion propose that the deletion was due to Microhomology-mediated end joining, while the insertion arose by FoSTeS. Conclusions: Our findings widen the understanding of the molecular events that may take place in DMD and characterize the occurrence of complex rearrangements in our dystrophinopathy cohort.This study was supported by PTC Therapeutics and University of Buenos Aires.Fil: Luce, Leonela Natalia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; ArgentinaFil: Carcione, María Micaela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; ArgentinaFil: Mazzanti, Chiara. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; ArgentinaFil: Szijan, Irena. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; ArgentinaFil: Menazzi, Sebastian. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Francipane, Liliana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Nevado, Julian. No especifíca;Fil: Lapunzina, Pablo. No especifíca;Fil: Rossetti, Liliana Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Radic, Claudia Pamela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Abelleyro, Miguel Martin. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: de Brasi, Carlos Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Giliberto, Florencia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina53rd European Society of Human Genetics ConferenceViennaAlemaniaWiener Medizinische AkademieEuropean Society of Human Genetic

The circulating proteome and brain health:Mendelian randomisation and cross-sectional analyses

Decline in cognitive function is the most feared aspect of ageing. Poorer midlife cognitive function is associated with increased dementia and stroke risk. The mechanisms underlying variation in cognitive function are uncertain. Here, we assessed associations between 1160 proteins' plasma levels and two measures of cognitive function, the digit symbol substitution test (DSST) and the Montreal Cognitive Assessment in 1198 PURE-MIND participants. We identified five DSST performance-associated proteins (NCAN, BCAN, CA14, MOG, CDCP1), with NCAN and CDCP1 showing replicated association in an independent cohort, GS (N = 1053). MRI-assessed structural brain phenotypes partially mediated (8-19%) associations between NCAN, BCAN, and MOG, and DSST performance. Mendelian randomisation analyses suggested higher CA14 levels might cause larger hippocampal volume and increased stroke risk, whilst higher CDCP1 levels might increase intracranial aneurysm risk. Our findings highlight candidates for further study and the potential for drug repurposing to reduce the risk of stroke and cognitive decline.</p

EBioMedicine

BACKGROUND: Previous epigenome-wide association studies have shown that HIV infection can disrupt the host DNA methylation landscape. However, it remains unclear how antiretroviral therapy (ART) affects the HIV-induced epigenetic modifications. METHODS: 184 individuals with HIV from the NEAT001/ANRS143 clinical trial (with pre-ART and post-ART samples [96 weeks of follow-up]) and 44 age-and-sex matched individuals without HIV were included. We compared genome-wide DNA methylation profiles in whole blood between groups adjusting for age, sex, batch effects, and DNA methylation-based estimates of leucocyte composition. FINDINGS: We identified 430 differentially methylated positions (DMPs) between HIV+ pre-ART individuals and HIV-uninfected controls. In participants with HIV, ART initiation modified the DNA methylation levels at 845 CpG positions and restored 49.3% of the changes found between HIV+ pre-ART and HIV-uninfected individuals. We only found 15 DMPs when comparing DNA methylation profiles between HIV+ post-ART individuals and participants without HIV. The Gene Ontology enrichment analysis of DMPs associated with untreated HIV infection revealed an enrichment in biological processes regulating the immune system and antiviral responses. In participants with untreated HIV infection, DNA methylation levels at top HIV-related DMPs were associated with CD4/CD8 ratios and viral loads. Changes in DNA methylation levels after ART initiation were weakly correlated with changes in CD4+ cell counts and the CD4/CD8 ratio. INTERPRETATION: Control of HIV viraemia after 96 weeks of ART initiation partly restores the host DNA methylation changes that occurred before antiretroviral treatment of HIV infection. FUNDING: NEAT-ID Foundation and Instituto de Salud Carlos III, co-funded by European Union

Reticulate evolution: frequent introgressive hybridization among chinese hares (genus lepus) revealed by analyses of multiple mitochondrial and nuclear DNA loci

<p>Abstract</p> <p>Background</p> <p>Interspecific hybridization may lead to the introgression of genes and genomes across species barriers and contribute to a reticulate evolutionary pattern and thus taxonomic uncertainties. Since several previous studies have demonstrated that introgressive hybridization has occurred among some species within <it>Lepus</it>, therefore it is possible that introgressive hybridization events also occur among Chinese <it>Lepus </it>species and contribute to the current taxonomic confusion.</p> <p>Results</p> <p>Data from four mtDNA genes, from 116 individuals, and one nuclear gene, from 119 individuals, provides the first evidence of frequent introgression events via historical and recent interspecific hybridizations among six Chinese <it>Lepus </it>species. Remarkably, the mtDNA of <it>L. mandshuricus </it>was completely replaced by mtDNA from <it>L. timidus </it>and <it>L. sinensis</it>. Analysis of the nuclear DNA sequence revealed a high proportion of heterozygous genotypes containing alleles from two divergent clades and that several haplotypes were shared among species, suggesting repeated and recent introgression. Furthermore, results from the present analyses suggest that Chinese hares belong to eight species.</p> <p>Conclusion</p> <p>This study provides a framework for understanding the patterns of speciation and the taxonomy of this clade. The existence of morphological intermediates and atypical mitochondrial gene genealogies resulting from frequent hybridization events likely contribute to the current taxonomic confusion of Chinese hares. The present study also demonstrated that nuclear gene sequence could offer a powerful complementary data set with mtDNA in tracing a complete evolutionary history of recently diverged species.</p

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research