Avances en la resolución conjunta de los procesos costeros y portuarios para la predicción de la agitación en la bahía de Algeciras

Se agradece a la APBA la financiación dentro del proyecto “Algeciras Safeport”

Comparative cytogenetic analysis of two grasshopper species of the tribe Abracrini (Ommatolampinae, Acrididae)

The grasshopper species Orthoscapheus rufipes and Eujivarus fusiformis were analyzed using several cytogenetic techniques. The karyotype of O. rufipes, described here for the first time, had a diploid number of 2n = 23, whereas E. fusiformis had a karyotype with 2n = 21. The two species showed the same mechanism of sex determination (XO type) but differed in chromosome morphology. Pericentromeric blocks of constitutive heterochromatin (CH) were detected in the chromosome complement of both species. CMA3/DA/DAPI staining revealed CMA3-positive blocks in CH regions in four autosomal bivalents of O. rufipes and in two of E. fusiformis. The location of active NORs differed between the two species, occurring in bivalents M6 and S9 of O. rufipes and M6 and M7 of E. fusiformsi. The rDNA sites revealed by FISH coincided with the number and position of the active NORs detected by AgNO3 staining. The variability in chromosomal markers accounted for the karyotype differentiation observed in the tribe Abracrini

Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA

Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. This study aimed to elucidate the true effects of 18 mutations on VWF mRNA processing, investigate the contribution of next-generation sequencing to in vivo mRNA study in von Willebrand disease, and compare the findings with in silico prediction. RNA extracted from patient platelets and leukocytes was amplified by RT-PCR and sequenced using Sanger and next generation sequencing techniques. Eight mutations affected VWF splicing: c.1533+1G>A, c.5664+2T>C and c.546G>A (p.=) prompted exon skipping; c.3223-7_3236dup and c.7082-2A>G resulted in activation of cryptic sites; c.3379+1G>A and c.7473G>A (p.=) demonstrated both molecular pathogenic mechanisms simultaneously; and the p.Cys370Tyr missense mutation generated two aberrant transcripts. Of note, the complete effect of 3 mutations was provided by next generation sequencing alone because of low expression of the aberrant transcripts. In the remaining 10 mutations, no effect was elucidated in the experiments. However, the differential findings obtained in platelets and leukocytes provided substantial evidence that 4 of these would have an effect on VWF levels. In this first report using next generation sequencing technology to unravel the effects of VWF mutations on splicing, the technique yielded valuable information. Our data bring to light the importance of studying the effect of synonymous and missense mutations on VWF splicing to improve the current knowledge of the molecular mechanisms behind von Willebrand disease.info:eu-repo/semantics/publishedVersio

Early mobilisation in critically ill COVID-19 patients: a subanalysis of the ESICM-initiated UNITE-COVID observational study

Background Early mobilisation (EM) is an intervention that may improve the outcome of critically ill patients. There is limited data on EM in COVID-19 patients and its use during the first pandemic wave. Methods This is a pre-planned subanalysis of the ESICM UNITE-COVID, an international multicenter observational study involving critically ill COVID-19 patients in the ICU between February 15th and May 15th, 2020. We analysed variables associated with the initiation of EM (within 72 h of ICU admission) and explored the impact of EM on mortality, ICU and hospital length of stay, as well as discharge location. Statistical analyses were done using (generalised) linear mixed-effect models and ANOVAs. Results Mobilisation data from 4190 patients from 280 ICUs in 45 countries were analysed. 1114 (26.6%) of these patients received mobilisation within 72 h after ICU admission; 3076 (73.4%) did not. In our analysis of factors associated with EM, mechanical ventilation at admission (OR 0.29; 95% CI 0.25, 0.35; p = 0.001), higher age (OR 0.99; 95% CI 0.98, 1.00; p ≤ 0.001), pre-existing asthma (OR 0.84; 95% CI 0.73, 0.98; p = 0.028), and pre-existing kidney disease (OR 0.84; 95% CI 0.71, 0.99; p = 0.036) were negatively associated with the initiation of EM. EM was associated with a higher chance of being discharged home (OR 1.31; 95% CI 1.08, 1.58; p = 0.007) but was not associated with length of stay in ICU (adj. difference 0.91 days; 95% CI − 0.47, 1.37, p = 0.34) and hospital (adj. difference 1.4 days; 95% CI − 0.62, 2.35, p = 0.24) or mortality (OR 0.88; 95% CI 0.7, 1.09, p = 0.24) when adjusted for covariates. Conclusions Our findings demonstrate that a quarter of COVID-19 patients received EM. There was no association found between EM in COVID-19 patients' ICU and hospital length of stay or mortality. However, EM in COVID-19 patients was associated with increased odds of being discharged home rather than to a care facility. Trial registration ClinicalTrials.gov: NCT04836065 (retrospectively registered April 8th 2021)

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

Population variability in the response of ripgut brome (Bromus diandrus) to sulfosulfuron and glyphosate herbicides

Ripgut brome has become a problematic weed in Spain both as a consequence of the continuous cropping of winter wheat through minimal tillage systems and its difficult control with selective herbicides. Ripgut brome populations collected in the regions of Castilla-León and Cataluña, two main cereal-growing areas in Spain, were screened in the greenhouse for response to sulfosulfuron, a selective herbicide for the control of brome grasses in wheat, and to glyphosate, often used as a pre-plant knockdown to control bromes in no-till systems. The fresh weight percentage relative to the untreated controls was calculated for each ripgut brome population and herbicide and was used as a measure of the herbicide response. Results showed variation in fresh weight response to both herbicides among populations. Fresh weight of the populations after sulfosulfuron was applied at the two-leaf stage at a rate of 20 g ai ha-1 varied from 3% in the most susceptible population to 35% in the most resistant; the response was similar (6 to 38%) when the herbicide dose was reduced to half. For glyphosate at 800 g ae ha-1, fresh weight varied from 2 to 25% among populations, but the range of variation in fresh weight response increased as herbicide dose decreased to one half, with rates of from 4% to 90% among populations. The location of the collection site (inside the field or in-margin) showed no differences in response to both herbicides, but there was a statistically significant, geographically correlated differentiation for glyphosate response, with a greater resistance in the populations from Castilla-León. Undamaged plants were found after treatments with both herbicides, showing differences in resistance among plants. The study shows inter- and intrapopulation variability for the response of ripgut brome to sulfosulfuron and glyphosate. The implications for resistance development are discussed within the framework of relationships of the structure of the populations relative to their herbicide response. © 2011 Weed Science Society of America

Equilocality and heterogeneity of constitutive heterochromatin in situ localization of two families of highly repetitive DNA in Dociostaurus genei (Orthoptera)

The chromosome complement of the grasshopper Dociostaurus genei is characterized by the presence of constitutive heterochromatin (C-bands) located in the centromeric regions of all the chromosomes and in the distal regions of some autosomes in the form of supernumerary segments. A sequence analysis was carried out to obtain information about the molecular characteristics of both heterochromatic regions. Two families of tandemly repetitive DNA (DgT2 and DgA3) from D. genei were cloned and characterized. Data obtained from in situ hybridization indicate that these families are located solely in the regions of constitutive heterochromatin. The DgT2 clone is representative of a family of sequences which mainly forms the centromeric C-bands in each chromosome of the complement. The DgA3 family is the major component of the distal C-bands (supernumerary segments) present in most of the autosomal pairs. These results show the existence in D. genei of two different families of repetitive DNA restricted to different chromosomal domains. We discuss these results in the light of the possible role of chromosomal disposition in the maintenance of the differences between heterochromatic DNA from different chromosomal regions and the homogenization of DNA sequences from equilocal chromosomal domains. © 1996 The Genetical Society of Great Britain