Aumento de la eficiencia por mejora genética

PublishedCapítulo

Efecto del gen BMP15 sobre la distribución del tipo de parto en ovejas Rasa Aragonesa

Publishe

Relationship between the effects of the BMP15 gene and the polygenic effects on prolificacy in the rasa Aragonesa sheep breed

Los efectos del gen BMP15, localizado en el cromosoma X, sobre la media y la variabilidad de la prolificidad fueron estimados en la población Rasa Aragonesa, donde se analizaron 918.956 partos de ovejas de distintos genotipos (heterocigotas para el alelo FecXR o ROA®; y no portadoras). En primer lugar, se utilizaron modelos umbral que incluían o no el efecto del gen para estimar el efecto del genotipo BMP15 y su contribución a la variabilidad genética de la prolificidad en esta población. También se utilizaron otros dos modelos para estimar las interacciones entre el genotipo y los poligenes, así como el efecto del genotipo sobre la variabilidad de la prolificidad. Todos los análisis se hicieron con el programa ASReml. El efecto del genotipo sobre la media fue de 0,32 corderos adicionales por parto cuando el alelo ROA® se encontraba presente. Debido a que durante muchos años la selección por prolificidad en esta población se ha llevado a cabo desconociendo la presencia de esta mutación, los animales selectos portadores tienen un valor genético poligénico residual más bajo que los no portadores. No se encontró interacción significativa entre el genotipo y los efectos poligénicos sobre el valor genético. Aunque la interacción entre el genotipo y el conjunto de umbrales fue significativa, la diferencia entre ambos genotipos en la varianza de la prolificidad sobre la escala observada a una prolificidad media dada es escasa y muy poco relevanteThe effects of the BMP15 gene, located on the X chromosome, on mean prolificacy and its variability, were estimated in the Rasa Aragonesa sheep population through the analysis of 918,956 lambing records from ewes of different genotypes (FecXR or ROA® heterozygous ewes; and non-carrier ewes). Threshold models including or not the gene effect were first run to determine the effect of the BMP15 genotype and its importance in the total genetic variability of prolificacy. Two other models were also run to estimate the interaction between the BMP15 genotype and the polygenic background, as well as the effect of the genotype on the variability prolificacy. All the models were run using the ASReml software. The effect of the presence of the ROA® allele of the BMP15 gene on the mean prolificacy was 0.32 extra lambs per lambing. Due to the selection on prolificacy performed during many years in this population ignoring the presence of this major gene, animals carrying the mutation were found to have lower remaining polygenic estimated breeding values than non-carrier animals, and there was no interaction between the BMP15 genotype and the polygenic background. Although the interaction between the genotype and the set of thresholds was significant, the resulting between-genotypes difference of variance of prolificacy on the observed scale, at a similar mean litter size, was very low and not relevantPublishe

Asociación de los genes LEPR y DGAT1 con caracteres reproductivos en ovejas de rasa aragonesa

Estudios de gestión técnico-económicos en explotaciones de Rasa aragonesa han mostrado que algunos de los factores asociados con un incremento de la rentabilidad de las ganaderías son la disminución de periodos improductivos y el incremento del número de corderos vendidos por oveja y año (Pardos et al., 2016; Pardos y Fantova, 2018; Pardos et al., 2022), que están relacionados con la mejora de los índices de prolificidad, edad al primer parto y estacionalidad reproductiva. El objetivo de este trabajo fue llevar a cabo un estudio de asociación con el fin de identificar SNPs asociados con caracteres reproductivos, mediante un panel de 192 SNPs utilizado en Rasa aragonesa para asignación de paternidad y para el genotipado de genes funcionales.Este trabajo ha sido financiado con fondos FEDER, y de los proyectos FITE TERGENOVID, Grupo de Cooperación VAGESO (GCP2019003800) y Grupo SAGAS Ref. A14_20R) del Gobierno de Aragón. K. Lakhssassi está financiada por un contrato del Ministerio de Ciencia, Innovación y Universidad (BES-2017-080154

Clinical outcomes of temporary mechanical circulatory support as a direct bridge to heart transplantation: a nationwide Spanish registry

Background: In Spain, listing for high-urgent heart transplantation is allowed for critically ill candidates not weanable from temporary mechanical circulatory support (T-MCS). We sought to analyse the clinical outcomes of this strategy. Methods and results: We conducted a case-by-case, retrospective review of clinical records of 291 adult patients listed for high-urgent heart transplantation under temporary devices from 2010 to 2015 in 16 Spanish institutions. Survival after listing and adverse clinical events were studied. At the time of listing, 169 (58%) patients were supported on veno-arterial extracorporeal membrane oxygenation (VA-ECMO), 70 (24%) on temporary left ventricular assist devices (T-LVAD) and 52 (18%) on temporary biventricular assist devices (T-BiVAD). Seven patients transitioned from VA-ECMO to temporary ventricular assist devices while on the waiting list. Mean time on T-MCS was 13.1 ± 12.6 days. Mean time from listing to transplantation was 7.6 ± 8.5 days. Overall, 230 (79%) patients were transplanted and 54 (18.6%) died during MCS. In-hospital postoperative mortality after transplantation was 33.3%, 11.9% and 26.2% for patients bridged on VA-ECMO, T-LVAD and T-BiVAD, respectively (P = 0.008). Overall survival from listing to hospital discharge was 54.4%, 78.6% and 55.8%, respectively (P = 0.002). T-LVAD support was independently associated with a lower risk of death over the first year after listing (hazard ratio 0.52, 95% confidence interval 0.30–0.92). Patients treated with VA-ECMO showed the highest incidence rate of adverse clinical events associated with T-MCS. Conclusion: Temporary devices may be used to bridge critically ill candidates directly to heart transplantation in a setting of short waiting list times, as is the case of Spain. In our series, bridging with T-LVAD was associated with more favourable outcomes than bridging with T-BiVAD or VA-ECMO

Spread of a SARS-CoV-2 variant through Europe in the summer of 2020.

Following its emergence in late 2019, the spread of SARS-CoV-21,2 has been tracked by phylogenetic analysis of viral genome sequences in unprecedented detail3–5. Although the virus spread globally in early 2020 before borders closed, intercontinental travel has since been greatly reduced. However, travel within Europe resumed in the summer of 2020. Here we report on a SARS-CoV-2 variant, 20E (EU1), that was identified in Spain in early summer 2020 and subsequently spread across Europe. We find no evidence that this variant has increased transmissibility, but instead demonstrate how rising incidence in Spain, resumption of travel, and lack of effective screening and containment may explain the variant’s success. Despite travel restrictions, we estimate that 20E (EU1) was introduced hundreds of times to European countries by summertime travellers, which is likely to have undermined local efforts to minimize infection with SARS-CoV-2. Our results illustrate how a variant can rapidly become dominant even in the absence of a substantial transmission advantage in favourable epidemiological settings. Genomic surveillance is critical for understanding how travel can affect transmission of SARS-CoV-2, and thus for informing future containment strategies as travel resumes. © 2021, The Author(s), under exclusive licence to Springer Nature Limited

EPIdemiology of Surgery-Associated Acute Kidney Injury (EPIS-AKI) : Study protocol for a multicentre, observational trial

More than 300 million surgical procedures are performed each year. Acute kidney injury (AKI) is a common complication after major surgery and is associated with adverse short-term and long-term outcomes. However, there is a large variation in the incidence of reported AKI rates. The establishment of an accurate epidemiology of surgery-associated AKI is important for healthcare policy, quality initiatives, clinical trials, as well as for improving guidelines. The objective of the Epidemiology of Surgery-associated Acute Kidney Injury (EPIS-AKI) trial is to prospectively evaluate the epidemiology of AKI after major surgery using the latest Kidney Disease: Improving Global Outcomes (KDIGO) consensus definition of AKI. EPIS-AKI is an international prospective, observational, multicentre cohort study including 10 000 patients undergoing major surgery who are subsequently admitted to the ICU or a similar high dependency unit. The primary endpoint is the incidence of AKI within 72 hours after surgery according to the KDIGO criteria. Secondary endpoints include use of renal replacement therapy (RRT), mortality during ICU and hospital stay, length of ICU and hospital stay and major adverse kidney events (combined endpoint consisting of persistent renal dysfunction, RRT and mortality) at day 90. Further, we will evaluate preoperative and intraoperative risk factors affecting the incidence of postoperative AKI. In an add-on analysis, we will assess urinary biomarkers for early detection of AKI. EPIS-AKI has been approved by the leading Ethics Committee of the Medical Council North Rhine-Westphalia, of the Westphalian Wilhelms-University Münster and the corresponding Ethics Committee at each participating site. Results will be disseminated widely and published in peer-reviewed journals, presented at conferences and used to design further AKI-related trials. Trial registration number NCT04165369

Volume I. Introduction to DUNE

The preponderance of matter over antimatter in the early universe, the dynamics of the supernovae that produced the heavy elements necessary for life, and whether protons eventually decay—these mysteries at the forefront of particle physics and astrophysics are key to understanding the early evolution of our universe, its current state, and its eventual fate. The Deep Underground Neutrino Experiment (DUNE) is an international world-class experiment dedicated to addressing these questions as it searches for leptonic charge-parity symmetry violation, stands ready to capture supernova neutrino bursts, and seeks to observe nucleon decay as a signature of a grand unified theory underlying the standard model. The DUNE far detector technical design report (TDR) describes the DUNE physics program and the technical designs of the single- and dual-phase DUNE liquid argon TPC far detector modules. This TDR is intended to justify the technical choices for the far detector that flow down from the high-level physics goals through requirements at all levels of the Project. Volume I contains an executive summary that introduces the DUNE science program, the far detector and the strategy for its modular designs, and the organization and management of the Project. The remainder of Volume I provides more detail on the science program that drives the choice of detector technologies and on the technologies themselves. It also introduces the designs for the DUNE near detector and the DUNE computing model, for which DUNE is planning design reports. Volume II of this TDR describes DUNE\u27s physics program in detail. Volume III describes the technical coordination required for the far detector design, construction, installation, and integration, and its organizational structure. Volume IV describes the single-phase far detector technology. A planned Volume V will describe the dual-phase technology

Deep Underground Neutrino Experiment (DUNE), far detector technical design report, volume III: DUNE far detector technical coordination

The preponderance of matter over antimatter in the early universe, the dynamics of the supernovae that produced the heavy elements necessary for life, and whether protons eventually decay—these mysteries at the forefront of particle physics and astrophysics are key to understanding the early evolution of our universe, its current state, and its eventual fate. The Deep Underground Neutrino Experiment (DUNE) is an international world-class experiment dedicated to addressing these questions as it searches for leptonic charge-parity symmetry violation, stands ready to capture supernova neutrino bursts, and seeks to observe nucleon decay as a signature of a grand unified theory underlying the standard model. The DUNE far detector technical design report (TDR) describes the DUNE physics program and the technical designs of the single- and dual-phase DUNE liquid argon TPC far detector modules. Volume III of this TDR describes how the activities required to design, construct, fabricate, install, and commission the DUNE far detector modules are organized and managed. This volume details the organizational structures that will carry out and/or oversee the planned far detector activities safely, successfully, on time, and on budget. It presents overviews of the facilities, supporting infrastructure, and detectors for context, and it outlines the project-related functions and methodologies used by the DUNE technical coordination organization, focusing on the areas of integration engineering, technical reviews, quality assurance and control, and safety oversight. Because of its more advanced stage of development, functional examples presented in this volume focus primarily on the single-phase (SP) detector module

Innovations in the selection program of the UPRA-Grupo Pastores in Rasa aragonesa sheep breed

The Cooperative Oviaragon-Grupo Pastores carries out since 1994 a selection program for prolificacy in Rasa Aragonesa sheep, with 216.232 ewes at present. Sires of higher estimated breeding values are produced within the scheme by MOET, increasing the performance of this technology through the measurement of plasmatic Anti-Müllerian Hormone (AMH) in ewe embryo donors, an endocrine marker of the ovarian activity. Within this program a natural genetic prolific variant was found in 2007 (FecXR allele, BMP15 gene). Its effect on prolificacy leads to an increase of 0.35 lambs/lambing ewe when compared with non-carrier ewes, with an additive effect over the standard hormonal treatments used in farms. Recently, new variants in MTNR1A gene associated to reproductive seasonality have been detected in Rasa aragonesa breed. Non-linked SNPs in promoter and exon 2 regions have been detected decreasing the length of non-cycling period (considering anoestrus those periods with three or more consecutive weekly-sampled progesterone concentrations lower than 0.5 ng/ml) as much as 30 and 53 days, respectively, from January to August. In the same way, the allele located in exon 2 was also associated to an increase of 15 % of oestrus cycling months (based on oestrus records). Due to their productive interest, a controlled program for the outreach of FecXR allele and MTNR1A alleles has been developed. Finally, a polygenic selection program for maternal capacity is being carried out. The selection program goes on with a combined polygenic selection for prolificacy, maternal capacity and dissemination of FecXR and MTNR1A alleles