Estudio mineralógico de algunas calcedonias argentinas

El trabajo se realizó teniendo en cuenta la reacción de este mineral con el cemento portland, la cuál produce efectos perjudiciales en los hormigones. Se comprobó que en ciertos casos la reacción no se produce. Se investigan las causas de tal comportamiento. El material utilizado para el estudio proviene de los ríos Uruguay y Paraná, ya que son las principales fuentes de abastecimiento de agregados del Gran Buenos Aires. Las "calcedonias" estudiadas están compuestas por un agregado fino de cuarzo, calcedonia y ópalo. La proporción relativa de dichos minerales condiciona la reactividad de los mismos.This paper deals with the reaction between chalcedony and Portland cement. This reaction damages the structure of the reinforced concrete, when aggregates of this kind are used for that purpose. In certain cases the concerned reaction do not take place. For that reason a detailed study was carried out to determine the behavior of the materials. The aggregates used for this, study come from Paraná and Uruguay rivers; the sediments of this area supply enough material from the Gran Buenos Aires market. The so call "chalcedony" studies are mainly composed of fine quartz, chalcedony and opal. The relative amounts of these minerals are thought to affect the behavior of the aggregates when they are mixed with portland cement

Nanostructured micelle nanotubes self-assembled from dinucleobase monomers in water

Despite the central importance of aqueous amphiphile assemblies in science and industry, the size and shape of these nano-objects is often difficult to control with accuracy owing to the non-directional nature of the hydrophobic interactions that sustain them. Here, using a bioinspired strategy that consists of programming an amphiphile with shielded directional Watson–Crick hydrogen-bonding functions, its self-assembly in water was guided toward a novel family of chiral micelle nanotubes with partially filled lipophilic pores of about 2 nm in diameter. Moreover, these tailored nanotubes are successfully demonstrated to extract and host molecules that are complementary in size and chemical affinityFunding from the European Research Council (ERC-Starting Grant 279548 PROGRAM-NANO) and MINECO (CTQ2014-57729-P and CTQ2017-84727-P) is gratefully acknowledged

Interspecific Introgression in Cetaceans: DNA Markers Reveal Post-F1 Status of a Pilot Whale

Visual species identification of cetacean strandings is difficult, especially when dead specimens are degraded and/or species are morphologically similar. The two recognised pilot whale species (Globicephala melas and Globicephala macrorhynchus) are sympatric in the North Atlantic Ocean. These species are very similar in external appearance and their morphometric characteristics partially overlap; thus visual identification is not always reliable. Genetic species identification ensures correct identification of specimens. Here we have employed one mitochondrial (D-Loop region) and eight nuclear loci (microsatellites) as genetic markers to identify six stranded pilot whales found in Galicia (Northwest Spain), one of them of ambiguous phenotype. DNA analyses yielded positive amplification of all loci and enabled species identification. Nuclear microsatellite DNA genotypes revealed mixed ancestry for one individual, identified as a post-F1 interspecific hybrid employing two different Bayesian methods. From the mitochondrial sequence the maternal species was Globicephala melas. This is the first hybrid documented between Globicephala melas and G. macrorhynchus, and the first post-F1 hybrid genetically identified between cetaceans, revealing interspecific genetic introgression in marine mammals. We propose to add nuclear loci to genetic databases for cetacean species identification in order to detect hybrid individuals.

Demersal and epibenthic communities of sedimentary habitats in the Avilés Canyon System, Cantabrian Sea (NE Atlantic)

The aim of this study was to describe the epibenthic and demersal communities of the Avilés Canyon System (ACS) in relation to the environmental variables that characterize their biotope. ACS (Cantabrian Sea, NE Atlantic) was recently included in the Natura 2000 network as a Site of Community Importance (SCI). Data of faunal biomass derived from 6 surveys carried out using beam trawl and otter trawls in 2009 and 2010 within INDEMARES and ERDEM projects. Data were divided into two groups to obtain information about the two ecological compartments: benthic and demersal. The total number of species used in this analysis ascended to 116 in the case of benthic organisms and 110 in the case of demersal. Hierarchical clustering analysis was applied to obtain groups of samples similar in terms of species composition for the two ecological components. Depth was the main discriminating factor for grouping hauls, showing high consistency of bathymetric range independently from the compartment examined. Six groups were identified by depth as follows: medium shelf (∼100–200 m), external shelf (∼150–300m), shelf break (∼300–400 m), upper-slope (∼500–700 m), upper middle-slope (∼700–1100 m), and lower-middle-slope (1200–1500 m). SIMPER analysis on biomass values was performed to determine the structure of the faunal assemblages observed for each group in both compartments. Using biomass values for the analysis allowed for the exploration of groups playing important roles in ecosystem functioning and energy fluxes taking place on the sedimentary bottom of this SCI. Finally, CCA analysis revealed that the main environmental drivers were depth, broad scale bathymetric position index (BPI), near-bottom salinity, sedimentary type, and dynamics related variables (Q50 phy and So). This study gives an inventory of the soft bottom assemblages along a very wide depth range (100–1500 m) inside a SCI, linking both epibenthic and demersal communities with the biotope preferences. This study contributes to fundamental knowledge on soft-bottom communities as a pre-requisite, necessary for the next steps in terms of management framework in the SCI

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

<p>Abstract</p> <p>Background</p> <p>Mosaicism for copy number and copy neutral chromosomal rearrangements has been recently identified as a relatively common source of genetic variation in the normal population. However its prevalence is poorly defined since it has been only studied systematically in one large-scale study and by using non optimal <it>ad-hoc </it>SNP array data analysis tools, uncovering rather large alterations (> 1 Mb) and affecting a high proportion of cells. Here we propose a novel methodology, Mosaic Alteration Detection-MAD, by providing a software tool that is effective for capturing previously described alterations as wells as new variants that are smaller in size and/or affecting a low percentage of cells.</p> <p>Results</p> <p>The developed method identified all previously known mosaic abnormalities reported in SNP array data obtained from controls, bladder cancer and HapMap individuals. In addition MAD tool was able to detect new mosaic variants not reported before that were smaller in size and with lower percentage of cells affected. The performance of the tool was analysed by studying simulated data for different scenarios. Our method showed high sensitivity and specificity for all assessed scenarios.</p> <p>Conclusions</p> <p>The tool presented here has the ability to identify mosaic abnormalities with high sensitivity and specificity. Our results confirm the lack of sensitivity of former methods by identifying new mosaic variants not reported in previously utilised datasets. Our work suggests that the prevalence of mosaic alterations could be higher than initially thought. The use of appropriate SNP array data analysis methods would help in defining the human genome mosaic map.</p

Clinical implication of FMR1 intermediate alleles in a Spanish population

FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is a major concern regarding clinical implications of smaller CGG expansions known as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Although several studies have hypothesized that IA may be involved in the etiology of FMR1 premutation associated phenotypes, this association still remains unclear. The aim of this study was to provide new data on the clinical implications of IA. We reviewed a total of 17 011 individuals: 1142 with primary ovarian insufficiency, 478 with movement disorders, 14 006 with neurodevelopmental disorders and 1385 controls. Similar IA frequencies were detected in all the cases and controls (cases 1.20% vs controls 1.39%, P =.427). When comparing the allelic frequencies of IA = 50CGGs, a greater, albeit not statistically significant, number of alleles were detected in all the cohorts of patients. Therefore, IA below 50 CGGs should not be considered as risk factors for FMR1 premutation-associated phenotypes, at least in our population. However, the clinical implication of IA = 50CGGs remains to be further elucidated

Impact of house dust mite-driven asthma on children's school performance and activity

Absenteeism; Allergic asthma; Subcutaneous allergen immunotherapyAbsentisme; Asma al·lèrgica; Immunoteràpia subcutània amb al·lèrgensAbsentismo; Asma alérgica; Inmunoterapia subcutánea con alérgenosEvidence regarding asthma's impact on children's daily lives is limited. This prospective and cross-sectional, observational, multicenter study assessed school/work and activity impairment in children and adolescents with allergic asthma and their caregivers and allergen immunotherapy (AIT) effects. Included patients were schooled children and adolescents (5 to 17 years) with allergic asthma due to house dust mites (HDM). Impairment of school/work (i.e., absenteeism and presenteeism) and activity was measured in patients and their caregivers using the Work Productivity Impairment Questionnaire plus Classroom Impairment Questions: Allergy Specific (WPAI + CIQ:AS). HDM allergic patients with school impairment received subcutaneous AIT with a MicroCrystalline Tyrosine-associated allergoid. WPAI + CIQ:AS and effectiveness variables were compared between baseline and 1-year post-AIT. Of the 113 patients included, 59 (52.2%) and 51 (45.1%) showed school and activity impairment, respectively, missing a mean (SD) of 37.6 (24.4) % and 42.6 (25.6) % of school and activity time, respectively. Twenty-six (23%) caregivers reported activity impairment and, of the 79 (69.9%) employed, 30 (38%) reported work impairment. Of the 65 patients with school/activities impairment, 41 (63.1%) received AIT, of which 21 (51.2%) completed 1 year of treatment. Effectiveness variables and WPAI + CIQ:AS significantly improved: Mean (SD) school impairment decreased from 39.7 (26.7) to 2.1 (7.1) % (p < 0.001) and activity impairment from 46.2 (34.6) to 1.4 (3.6) % (p < 0.001). Conclusion: Allergic asthma due to HDMs results in school/work and activity impairment in children and adolescents and their caregivers. One year of AIT provided clinical benefits and reduced school and activity impairment. What is known: • Allergic asthma impairs children's school performance and daily activities. • Allergen immunotherapy modifies allergic disease course and ameliorates its symptoms. What is new: • Asthma symptoms due to allergy to house dust mites impair children's school attendance and productivity and daily activity and their caregivers' work performance and daily lives. • Allergen immunotherapy with a house dust mite MicroCrystalline Tyrosine (MCT)-associated allergoid seems to provide clinical benefits, associated with decreased school and activity impairment, supporting it as an effective treatment option

Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series

[Background]: X-linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused by a deficiency in the steroid sulfatase (STS) enzyme. It is the only type of ichthyosis that can be both syndromic and nonsyndromic. Typical clinical features include dark-brown scale of variable size favouring the extensor surfaces of the extremities.[Objectives]: To characterize clinically nonsyndromic XLI, with a particular focus on extracutaneous manifestations.[Methods]: This was a multicentre retrospective review of clinical findings from a case series of patients with a clinical and genetic diagnosis of XLI.[Results]: We identified 30 patients with XLI belonging to 25 different families carrying a deletion in the STS locus. All patients had dark scales of variable size on the extensor surfaces of the extremities. Lack of flexural involvement and pruritus were common but inconsistent findings, whereas palmoplantar hyperlinearity was absent in all but one patient. A history of orchiopexy was present in 10% and thus was more common than expected vs. the general population (3%). Neurological disorders including epilepsy (13%) and attention deficit hyperactivity disorder (ADHD; 30%) were over-represented in patients with XLI.[Conclusions]: This was a retrospective study with a limited number of patients. In the absence of confirmatory genetic testing and family history of the disease, dark-brown scale of the extensor surfaces and the absence of palmoplantar hyperlinearity appear to be the most reliable clinical findings supporting a diagnosis of XLI. Dermatologists should be aware of the high prevalence of ADHD and epilepsy in patients with nonsyndromic XLI

Renal tubule Cpt1a overexpression protects from kidney fibrosis by restoring mitochondrial homeostasis

Chronic kidney disease (CKD) remains a major epidemiological, clinical, and biomedical challenge. During CKD, renal tubular epithelial cells (TECs) present a persistent inflammatory and profibrotic response. Fatty acid oxidation (FAO), the main source of energy for TECs, is reduced in kidney fibrosis and contributes to its pathogenesis. To determine whether gain of function in FAO (FAO-GOF) could protect from fibrosis, we generated a conditional transgenic mouse model with overexpression of the fatty acid shuttling enzyme carnitine palmitoyl-transferase 1A (CPT1A) in TECs. Cpt1a-knockin (CPT1A-KI) mice subjected to 3 models of renal fibrosis (unilateral ureteral obstruction, folic acid nephropathy [FAN], and adenine-induced nephrotoxicity) exhibited decreased expression of fibrotic markers, a blunted proinflammatory response, and reduced epithelial cell damage and macrophage influx. Protection from fibrosis was also observed when Cpt1a overexpression was induced after FAN. FAO-GOF restored oxidative metabolism and mitochondrial number and enhanced bioenergetics, increasing palmitate oxidation and ATP levels, changes that were also recapitulated in TECs exposed to profibrotic stimuli. Studies in patients showed decreased CPT1 levels and increased accumulation of short- and middle-chain acylcarnitines, reflecting impaired FAO in human CKD. We propose that strategies based on FAO-GOF may constitute powerful alternatives to combat fibrosis inherent to CKD