Evaluation of the potential association of SOHLH2 polymorphisms with non-obstructive azoospermia susceptibility in a large European population

Non-obstructive azoospermia (NOA) or spermatogenic failure is a complex disease with an important genetic component that causes infertility in men. Known genetic factors associated with NOA include AZF microdeletions of the Y chromosome or karyotype abnormalities; however, most causes of NOA are idiopathic. During the last decade, a large list of associations between single-nucleotide polymorphisms (SNP) and NOA have been reported. However, most of the genetic studies have been performed only in Asian populations. We aimed to evaluate whether the previously described association in Han Chinese between NOA and two SNPs of the SOHLH2 gene (involved in the spermatogenesis process) may also confer risk for NOA in a population of European ancestry. We genotyped a total of 551 NOA patients (218 from Portugal and 333 from Spain) and 1,050 fertile controls (226 from Portugal and 824 from Spain) for the genetic variants rs1328626 and rs6563386 using TaqMan assays. To test for association, we compared the allele and genotype frequencies between cases and controls using an additive model. A haplotype analysis and a meta-analysis using the inverse variance method with our data and those of the original Asian study were also performed. No statistically significant differences were observed in any of the analyses described above. Therefore, considering the high statistical power of our study, it is not likely that the two analysed SOHLH2 genetic variants are related with an increase susceptibility to NOA in the European population.info:eu-repo/semantics/publishedVersio

Good practice regarding smoking cessation management in Spain: Challenges and opportunities for primary care physicians and nurses

INTRODUCTION We analyze the activities carried out by primary care (PC) physicians and nurses with respect to smoking cessation and evaluate their self-reported training, knowledge, and behavior. METHODS A cross-sectional study was conducted including 1514 PC physicians and nurses from June 2016 to March 2017, in Spain. The main variable was Good Practice (GP) in attention to smokers. To identify associated factors, a multilevel logistic regression model was used adjusted for sex, age, type of center, contract, years of employment, tobacco consumption, and self-reported training/knowledge. RESULTS Of the 792 physicians and 722 nurses, 48.6% referred to GP in smoking cessation management. The finding related to: being a non-smoker (OR=1.8; 95% CI: 1.2-2.5) or ex-smoker (OR= 1.4; 95% CI: 1.02-2.1), having a good level of knowledge (OR=1.8; 95% CI: 1.3-2.4) and training (OR=2.4; 95% CI: 1.8-3.2), and, to a lesser extent, being female (OR=1.3; 95% CI: 1.03-1.7), and work experience >10 years (OR=1.4; 95% CI: 1.03-1.9). The main GP barriers were: lack of time (45.5%), organizational problems (48.4%), and 35.4% lack of training. CONCLUSIONS The GP of PC physicians and nurses regarding smoking cessation management is related to being non-smokers or ex-smokers, and having sufficient training and knowledge. Lack of time and organizational problems were considered to be the main barriers. The promotion of training activities in the Spanish National Health Service with the support of scientific societies is required

Large-scale external validation and comparison of prognostic models: an application to chronic obstructive pulmonary disease

Background: External validations and comparisons of prognostic models or scores are a prerequisite for their use in routine clinical care but are lacking in most medical fields including chronic obstructive pulmonary disease (COPD). Our aim was to externally validate and concurrently compare prognostic scores for 3-year all-cause mortality in mostly multimorbid patients with COPD. Methods: We relied on 24 cohort studies of the COPD Cohorts Collaborative International Assessment consortium, corresponding to primary, secondary, and tertiary care in Europe, the Americas, and Japan. These studies include globally 15,762 patients with COPD (1871 deaths and 42,203 person years of follow-up). We used network meta-analysis adapted to multiple score comparison (MSC), following a frequentist two-stage approach; thus, we were able to compare all scores in a single analytical framework accounting for correlations among scores within cohorts. We assessed transitivity, heterogeneity, and inconsistency and provided a performance ranking of the prognostic scores. Results: Depending on data availability, between two and nine prognostic scores could be calculated for each cohort. The BODE score (body mass index, airflow obstruction, dyspnea, and exercise capacity) had a median area under the curve (AUC) of 0.679 [1st quartile-3rd quartile = 0.655-0.733] across cohorts. The ADO score (age, dyspnea, and airflow obstruction) showed the best performance for predicting mortality (difference AUC(ADO) - AUC(BODE) = 0.015 [95% confidence interval (CI) = - 0.002 to 0.032]; p = 0.08) followed by the updated BODE (AUCBODE updated - AUCBODE = 0.008 [95% CI = -0.005 to +0.022]; p = 0.23). The assumption of transitivity was not violated. Heterogeneity across direct comparisons was small, and we did not identify any local or global inconsistency. Conclusions: Our analyses showed best discriminatory performance for the ADO and updated BODE scores in patients with COPD. A limitation to be addressed in future studies is the extension of MSC network meta-analysis to measures of calibration. MSC network meta-analysis can be applied to prognostic scores in any medical field to identify the best scores, possibly paving the way for stratified medicine, public health, and research

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

Coumarin-lanthanide based compounds with SMM behavior and high quantum yield luminescence

Coumarin-based lanthanide complexes of general formula [Ln(coum)3(phen)(H2O)x]·yH2O (Ln-phen, x = 0,1, 0 ≤ y ≤ 1.5; phen = 1,10-phenanthroline; coum = 3-acetyl-4-hydroxylato-coumarin; Ln = Eu, Tb, Dy, Tm) and [Ln(coum)3(batho)]·0.7EtOH (Ln-batho, batho = 4,7-diphenyl-1,10-phenanthroline; Ln = Eu, Tb, Dy, Tm) were synthesized. The magnetic relaxation and photoluminescence behavior of these complexes was compared with that of the related compounds [Ln(coum)3(EtOH)(H2O)]·EtOH (Ln-coum), so as to investigate the effects of incorporating a second chromophore, either the phen or batho ligand, to the original coordination scaffold, provided with three coumarin (coum) ligands. Slow relaxation of the magnetization under H = 0 with moderate activation energies was observed for the Dy-phen (U/kB = 99.1 K) and Dy-batho (U/kB = 67.1 K) compounds, whereas Tb analogues presented field-induced single molecule magnet (SMM) behavior, with U/kB = 11.7 K (16.6 K@3 kOe) for Tb-phen (Tb-batho), respectively. Luminescent emission in the visible range was observed for all the Ln-coumarin based compounds upon ligand sensitization, with high quantum yields of 45 (40%) for Eu-phen (Eu-batho) compounds and 65–76–58% for Tb-coum, phen, batho analogues. Sensitization is mainly provided by the coumarin ligand having the energy difference ΔE between its triplet state T1 and the lanthanide emitting level closest to the optimum, while the second ligand can play either a synergistic or competing sensitizing role. The Tb-phen/batho compounds presented simultaneously SMM and luminescent behavior, with excellent values of the bifunctional figure of merit (ηSMM–QY ∼ 1000% K). The reported compounds represent a new class of bifunctional materials with potential interesting application in various fields.This work has been financed by MINECO Project DWARFS (MAT2017-83468-R) and MINECO/FEDER Project PGC2018-094749-B-I00. LG and CT thank DGAPA-PAPIIT IN 217518 for economic support. SB thanks CONACyT for economic support through project 268178. SF thanks Gobierno de Aragón (Grupo E17_20R).Peer reviewe

Consumo eléctrico en granjas de ganado ovino lechero de Castilla y León

An energy audit model was designed and data collected on 35 dairy sheep farms in Castilla y León were used to ascertain the nature of energy and water consumption of these farms. Data regarding census and production, equipment and hours of operation (milking, cooling, water pump, hot water...), other available machinery and water consumption were studied. Rates of energy utilization per producing ewe and per unit of milk produced were calculated. Beyond the differences due to farm size, hot water consumption was at 0.42 L daily per producing ewe producing or 0.29 L per litre of produced milk produced. The average electricity consumption was 2000 kWh/month, nearly 50 kWh/ewe and year or 84 kWh/1000 L of produced milk. Milking consumes 34 kWh/day (more than 40 % of daily utility costs), followed by milk cooling (30 %) and water heating (12 %). Farms with variable speed vacuum pump had lower electricity consumption by sheep. It has been estimated that total electricity consumption accounts for 2 % of milk price.Para conocer las características del consumo de energía y agua de las explotaciones de ganado ovino lechero de Castilla y León se realizó una auditoría energética a 35 granjas. Se recogieron datos de censo y producción, equipos y horario de funcionamiento (ordeño, enfriamiento, bomba de agua, agua caliente...), maquinaria disponible y consumo de agua. Se calcularon los índices de utilización de la energía por oveja productora y por unidad de leche producida. Aunque existen dife- rencias en función del tamaño de las explotacio- nes, el consumo de agua caliente sanitaria se sitúa en 0,42 L por oveja productora al día o 0,29 L por cada litro de leche producido. El consumo medio de electricidad es de 2000 kWh al mes, es decir, casi 50 kWh/oveja y año u 84 kWh por cada 1000 L de leche producida. El ordeño consume 34 kWh/día (más del 40 % del gasto eléctrico diario), seguido del enfriamiento de la leche (30 %) y el calenta- miento del agua (12 %). Las explotaciones con variador de velocidad en la bomba de vacío pre- sentaron un menor consumo de electricidad por oveja. Se ha estimado que el consumo total de electricidad representa el 2 % del precio percibido por cada litro de leche vendido

Flotsam, an overlooked vector of alien dispersal from ports

Anthropogenic litter is considered a potential vector for the dispersal of non-indigenous species (NIS) in marine ecosystems. Using the bay of Gijon (Southwestern Bay of Biscay) as a case study, we studied the composition and potential transfer of the communities inhabiting three different environment components: 1) natural and artificial substrates from the international port of Gijon, 2) six proximate rocky beaches and 3) floating litter collected in the adjacent coast. A total of 717 organisms were morphologically identified and DNA barcoded using COI and 18S genes. In total 23 NIS were detected, six of them considered invasive in the area. The taxonomic profiles of the three environment components were significantly different, flotsam containing higher proportions of Hexanauplia and less mollusks, echinoderms and polychaetes than ports and beaches. Contrary to expectations, floating litter showed higher densities of native and exotic species than beaches or port surfaces. This and shared haplotypes between port, flotsam and beaches in some invasive species may indicate that marine litter could represent a new habitat for species to disperse into new areas.En prens

Acoustic and seismic imaging of the active Adra Fault (NE Alboran Sea): In search for the source of the 1910 Adra Earthquake

Recently acquired swath-bathymetry data and high-resolution seismic reflection profiles offshore Adra (Almería, Spain) reveal the surficial expression of a NW-SE trending 20 km-long fault, which we termed the Adra Fault. Seismic imaging across the structure depicts a sub-vertical fault reaching the seafloor surface and slightly dipping to the NE showing an along-axis structural variability. Our new data suggest normal displacement of the uppermost units with probably a lateral component. Radiocarbon dating of a gravity core located in the area indicates that seafloor sediments are of Holocene age, suggesting present-day tectonic activity. The NE Alboran Sea area is characterized by significant low-magnitude earthquakes and by historical records of moderate magnitude, such as the Mw = 6.1 1910 Adra Earthquake. The location, dimension and kinematics of the Adra Fault agree with the fault solution and magnitude of the 1910 Adra Earthquake, whose moment tensor analysis indicates normal-dextral motion. The fault seismic parameters indicate that the Adra Fault is a potential source of large magnitude (Mw ≤ 6.5) earthquakes, which represents an unreported seismic hazard for the neighbouring coastal area