16 research outputs found
Genomic differentiation among varieties of Iberian pig
[EN] Aim of study: The objective of this study was to identify the autosomal genomic regions associated with genetic differentiation between three commercial strains of Iberian pig.
Area of study: Extremadura (Spain).
Material and methods: We used the Porcine v2 BeadChip to genotype 349 individuals from three varieties of Iberian pig (EE, Entrepelado; RR, Retinto; and TT, Torbiscal) and their crosses. After standard filtering of the Single Nucleotide Polymorphism (SNP) markers, 47, 67, and 123 haplotypic phases from EE, RR, and TT origins were identified. The allelic frequencies of 31,180 SNP markers were used to calculate the fixation index (FST) that were averaged in sliding windows of 2Mb.
Main results: The results confirmed the greater genetic closeness of the EE and RR varieties, and we were able to identify several genomic regions with a divergence greater than expected. The genes present in those genomic regions were used to perform an Overrepresentation Enrichment Analysis (ORA) for the Gene Ontology (GO) terms for biological process. The ORA indicated that several groups of biological processes were overrepresented: a large group involving morphogenesis and development, and others associated with neurogenesis, cellular responses, or metabolic processes. These results were reinforced by the presence of some genes within the genomic regions that had the highest genomic differentiation.
Research highlights: The genomic differentiation among varieties of the Iberian pig is heterogeneous along the genome. The genomic regions with the highest differentiation contain an overrepresentation of genes related with morphogenesis and development, neurogenesis, cellular responses and metabolic processes.Instituto Nacional de Investigacion y Tecnologia Agraria y Alimentaria (INIA), Spain RTA2012-00054-C02-01 Ministry of Science, Innovation and Universities, Spain CGL2016-80155-R; IDI-20170304 (CDTI)Alonso, I.; Ibáñez-Escriche, N.; Noguera, JL.; Casellas, J.; Martin De Hijas-Villalba, M.; Gracia-Santana, MJ.; Varona, L. (2020). Genomic differentiation among varieties of Iberian pig. Spanish Journal of Agricultural Research (Online). 18(1):1-20. https://doi.org/10.5424/sjar/2020181-15411120181Alexander DH, Novembre J, Lange K, 2009. Fast model-based estimation of ancestry in unrelated individuals. 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Community-Acquired Klebsiella pneumoniae Bacteremia: Global Differences in Clinical Patterns
We initiated a worldwide collaborative study, including 455 episodes of bacteremia, to elucidate the clinical patterns of Klebsiella pneumoniae. Historically, community-acquired pneumonia has been consistently associated with K. pneumoniae. Only four cases of community-acquired bacteremic K. pneumoniae pneumonia were seen in the 2-year study period in the United States, Argentina, Europe, or Australia; none were in alcoholics. In contrast, 53 cases of bacteremic K. pneumoniae pneumonia were observed in South Africa and Taiwan, where an association with alcoholism persisted (p=0.007). Twenty-five cases of a distinctive syndrome consisting of K. pneumoniae bacteremia in conjunction with community-acquired liver abscess, meningitis, or endophthalmitis were observed. A distinctive form of K. pneumoniae infection, often causing liver abscess, was identified, almost exclusively in Taiwan
Pregnancy control in patients with systemic lupus erythematosus/antiphospholipid syndrome. Part 2: Pregnancy follow-up
Objective: In order to agree on the fundamental aspects related to the management of pregnancy in patients with systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS), the Spanish Societies of Gynaecology and Obstetrics, Internal Medicine and Rheumatology set up a working group for the preparation of three consensus documents.
Methods: Each of the Scientific Societies involved proposed five representatives based on their experience in the field of pregnancy control in patients with autoimmune diseases. The recommendations were developed following the Delphi methodology.
Results: This second document contains the recommendations regarding the management of pregnancy in women with SLE and APS, including complications such as lupus activity, congenital heart block, thrombotic and obstetric manifestations of APS and placental vascular disease.
Conclusions: These multidisciplinary recommendations are considered decision-making tools for clinicians involved in the care of patients with SLE/APS during pregnancy.Objetivo: Las sociedades españolas de ginecología y obstetricia, de medicina interna y de reumatología han constituido un grupo de trabajo paritario para la elaboración de 3 documentos de consenso sobre el control del embarazo en mujeres con lupus eritematoso sistémico (LES) y síndrome antifosfolípido (SAF).Métodos: Cada una de las sociedades científicas implicadas propuso 5 representantes en base a su experiencia en el área del control del embarazo en pacientes con enfermedades autoinmunes. Las recomendaciones se elaboraron siguiendo la metodología Delphi. Resultados: En este segundo documento se incluyen las recomendaciones que abordan el manejo del embarazo normal y sus complicaciones en mujeres con LES/SAF. Se presentan las recomendaciones relacionadas con el seguimiento del embarazo, la actividad lúpica, el bloqueo cardíaco congénito, las manifestaciones trombóticas y obstétricas del SAF y los defectos de placentación. Conclusiones: Estas recomendaciones multidisciplinares se consideran herramientas en la toma de decisiones para los clínicos involucrados en la asistencia a pacientes con LES/SAF durante el embarazo
Pregnancy Control in Patients with Systemic Lupus Erythematosus and Antiphospholipid Syndrome. Part 1: Infertility, Ovarian Preservation and Preconception Assessment. Consensus Document of the Spanish Society of Gynaecology and Obstetrics (SEGO), the Spanish Society of Internal Medicine (SEMI) and the Spanish Society of Rheumatology (SER)
Objetivo: El embarazo y el puerperio se consideran una situación de riesgo en mujeres con lupus eritematoso sistémico (LES) y síndrome antifosfolípido (SAF). Es esencial que especialistas en enfermedades autoinmunes y en embarazo de alto riesgo intervengan en su seguimiento de forma coordinada. La Sociedad Española de Ginecología y Obstetricia, la Sociedad Española de Medicina Interna, y la Sociedad Española de Reumatología han constituido un grupo de trabajo paritario para la elaboración de 3 documentos de consenso.
Métodos: Las fases del trabajo fueron: distribución del trabajo en grupos correspondientes a los 3 períodos relacionados con la gestación, identificación de áreas clave, revisión de la literatura y formulación de recomendaciones.
Resultados: En este primer documento se incluyen las primeras 48 recomendaciones que tratan aspectos relacionados con la infertilidad, la necesidad y los tratamientos de preservación gonadal y la valoración preconcepcional.
Conclusiones: Estas recomendaciones multidisciplinares se consideran herramientas en la toma de decisiones para los clínicos involucrados en la asistencia a pacientes con LES/SAF durante el embarazo
Development of a short questionnaire for quality of life specific for inflammatory bowel diseases (IBD)
Trasplante cardiaco en pacientes adultos con cardiopatía congénita
Resumen: Introducción y objetivos: Los pacientes adultos con cardiopatías congénitas representan un porcentaje pequeño del total de pacientes trasplantados de corazón. Tradicionalmente se ha asociado a este subgrupo de pacientes a una mayor mortalidad precoz. En nuestro centro hemos experimentado un incremento en el número de pacientes adultos con cardiopatía congénita remitidos para valoración de trasplante. Presentamos nuestra experiencia. Métodos: Entre mayo de 1984 y diciembre del 2014 se realizaron 508 trasplantes cardiacos. De ellos 16 (3%) fueron en adultos con cardiopatía congénita. Se han analizado las características de este grupo, comparando su evolución con el resto de trasplantes de causa no congénita. Resultados: En el grupo de pacientes trasplantados con cardiopatía congénita la causa más frecuente fue la transposición completa de grandes vasos. Los pacientes congénitos trasplantados tuvieron una edad media inferior, menos factores de riesgo cardiovascular y mayor número de intervenciones previas que el grupo de trasplantados no congénitos, todas ellas diferencias estadísticamente significativas (p < 0,001 en todos los casos). La supervivencia de los trasplantados por cardiopatías congénitas fue del 87,5% (IC del 95%, 58,60%-96,72%) al año, 78,6% (IC del 95%, 46,62%-92,79%) a los 5 años y 57,4% (IC del 95%, 24,07-80,57%) a los 10 años, sin diferencia (p = 0,23) respecto al grupo de no congénitos. Conclusiones: A pesar de que ha aumentado el número de pacientes con cardiopatías congénitas complejas remitidos a programas de trasplante cardiaco, continúan representando un porcentaje pequeño del total de trasplantes. Una minuciosa selección de pacientes candidatos, una buena planificación quirúrgica y un estricto control postoperatorio permiten disminuir la mortalidad precoz en los trasplantes de pacientes con cardiopatías congénitas complejas, haciéndola semejante a la de los pacientes trasplantados sin cardiopatía congénita. Abstract: Introduction and objectives: Adult patients with congenital heart disease represent a small proportion of the heart transplant patient population. This group of patients has been traditionally associated with higher early mortality. In our institution the number of patients referred for cardiac transplant has increased in the last few years. A report of our experience is presented. Methods: A total of 508 cardiac transplants were performed in our institution between 1984 and 2014, with 16 (3%) of them being performed on adult patients with congenital heart disease. Characteristics of these patients were analysed and compared with transplants performed on patients with non-congenital heart disease. Results: Transposition of the great arteries was the most frequent disease in the group of patients with congenital heart disease. This group was younger, with less cardiovascular risk factors, and with higher incidence of previous cardiac surgery than the non-congenital group, all of them with statistically significant differences (P<.001 in all the cases). The survival of heart transplant patients with congenital heart disease was 87.5% (95% CI; 58.60%-96.72%) at 1 year, 78.6% (95% CI; 46.62%-92.79%) at 5 years, and 57.4% (95% CI; 24.07-80.57%) at 10 years. There was no differences between this group and the non-congenital group (P=.23). Conclusions: Although the number of patients with congenital heart disease referred to transplant programs has increased, they still represent a small proportion of heart transplant recipients. An accurate selection of candidates, surgical planning, and strictly controlled postoperative care, will contribute to reduce early mortality in heart transplantation in adult patients with congenital heart disease. Palabras clave: Cardiopatías congénitas, Cirugía, Insuficiencia cardiaca, Trasplante, Keywords: Congenital heart disease, Surgery, Heart failure, Transplantatio
A genome-wide association study identifies novel players in Na and Fe homeostasis in Arabidopsis thaliana under alkaline-salinity stress
In nature, multiple stress factors occur simultaneously. The screening of natural diversity panels and subsequent Genome-Wide Association Studies (GWAS) is a powerful approach to identify genetic components of various stress responses. Here, the nutritional status variation of a set of 270 natural accessions of Arabidopsis thaliana grown on a natural saline-carbonated soil is evaluated. We report significant natural variation on leaf Na (LNa) and Fe (LFe) concentrations in the studied accessions. Allelic variation in the NINJA and YUC8 genes is associated with LNa diversity, and variation in the ALA3 is associated with LFe diversity. The allelic variation detected in these three genes leads to changes in their mRNA expression and correlates with plant differential growth performance when plants are exposed to alkaline salinity treatment under hydroponic conditions. We propose that YUC8 and NINJA expression patters regulate auxin and jasmonic signaling pathways affecting plant tolerance to alkaline salinity. Finally, we describe an impairment in growth and leaf Fe acquisition associated with differences in root expression of ALA3, encoding a phospholipid translocase active in plasma membrane and the trans Golgi network which directly interacts with proteins essential for the trafficking of PIN auxin transporters, reinforcing the role of phytohormonal processes in regulating ion homeostasis under alkaline salinity
Multidisciplinary models for pregnancy care in patients with rheumatic diseases: Clinical experiences and experts opinion
Cardiac transplantation in adult patients with congenital heart disease Trasplante cardiaco en pacientes adultos con cardiopatía congénita
Adult patients with congenital heart disease represent a small proportion of the heart transplant patient population. This group of patients has been traditionally associated with higher early mortality. In our institution the number of patients referred for cardiac transplant has increased in the last few years. A report of our experience is presented. A total of 508 cardiac transplants were performed in our institution between 1984 and 2014, with 16 (3%) of them being performed on adult patients with congenital heart disease. Characteristics of these patients were analysed and compared with transplants performed on patients with non-congenital heart disease. Transposition of the great arteries was the most frequent disease in the group of patients with congenital heart disease. This group was younger, with less cardiovascular risk factors, and with higher incidence of previous cardiac surgery than the non-congenital group, all of them with statistically significant differences (P<.001 in all the cases). The survival of heart transplant patients with congenital heart disease was 87.5% (95% CI; 58.60%-96.72%) at 1 year, 78.6% (95% CI; 46.62%-92.79%) at 5 years, and 57.4% (95% CI; 24.07-80.57%) at 10 years. There was no differences between this group and the non-congenital group (P=.23). Although the number of patients with congenital heart disease referred to transplant programs has increased, they still represent a small proportion of heart transplant recipients. An accurate selection of candidates, surgical planning, and strictly controlled postoperative care, will contribute to reduce early mortality in heart transplantation in adult patients with congenital heart disease
A multi‑model approach to explore sustainable food and land use pathways for Argentina
In Argentina, current food and land-use systems are drivers of greenhouse gas emissions, biodiversity loss, nutrient outflows, chemical pollution and water stress, while they fail to produce sustainable livelihoods for farmers and herders. Argentina must transition toward more sustainable food and land-use systems to achieve the sustainable development goals (SDGs) and the objectives of the Paris Agreement. Here, we present mid-century food and land-use system pathways to achieve biodiversity, freshwater use, food production and greenhouse gas emission targets, co-developed with the government, research and civil society stakeholders. We used a multi model approach, integrating outputs from a food system and land-use accounting tool (FABLE calculator), a land-use allocation model (Dinamica EGO) and a spatially explicit conservation prioritization approach (NatureMap) to construct a carbon neutral, actionable food system and land-use scenario that could also lead to the achievement of biodiversity, freshwater use, food production and carbon storage targets by 2050. Such integrated approaches are rare, despite their high value for helping cross-sectoral experts and policymakers cut through complexity to find pathways to achieve multiple sustainability objectives in tandem. This paper presents a nationally designed transferable methodology to: (1) construct a carbon neutral pathway toward 2050, (2) create spatially explicit land use projections, (3) detect and assess trade-offs between sustainability goals, (4) modify this pathway to foster co-benefits and (5) work toward concurrent attainment of multiple SDGs. Preliminary results suggest Argentina is well suited to meet multiple SDGs, provided businesses, civil society and government agree to several key commitments, including completely halting deforestation, promoting afforestation and reforestation, and increasing agricultural productivity to spare natural lands.EEA AnguilFil: Frank, Federico. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Anguil; ArgentinaFil: Volante, Jose Norberto. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Salta; ArgentinaFil: Calamari, Noelia Cecilia. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Paraná; ArgentinaFil: Peri, Pablo Luis. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Santa Cruz; Argentina.Fil: Peri, Pablo Luis. Universidad Nacional de la Patagonia Austral; Argentina.Fil: Peri, Pablo Luis. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.Fil: Gonzalez Chaves, Baltazar. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.Fil: Gonzalez Chaves, Baltazar. Centro de Investigación Esquel de Montaña y Estepa Patagónica; Argentina.Fil: Garcia Martínez, Pablo. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.Fil: Garcia Martínez, Pablo. Universidad Nacional de Río Negro; Argentina.Fil: Mosciaro, Maria Jesus. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Salta. Laboratorio de Teledetección y SIG; ArgentinaFil: Martín, Gabriel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.Fil: Martín, Gabriel. Centro de Investigación Esquel de Montaña y Estepa Patagónica; Argentina.Fil: Benito Amaro, Ignacio. Instituto Nacional de Tecnología Agropecuaria (INTA). Centro de Investigación en Economía y Prospectiva (CIEP); ArgentinaFil: Pace Guerrero, Ignacio. Instituto Nacional de Tecnología Agropecuaria (INTA). Centro de Investigación en Economía y Prospectiva (CIEP); ArgentinaFil: Casellas, Karina Susana. Instituto Nacional de Tecnología Agropecuaria (INTA). Centro de Investigación en Economía y Prospectiva (CIEP); ArgentinaFil: Zuliani, Melina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.Fil: Zuliani, Melina. Fundación Bariloche (FB); ArgentinaFil: Sirimarco, Ximena. Grupo de Estudio de Agroecosistemas y Paisajes Rurales (GEAP); ArgentinaFil: Gaitán, Juan José. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Suelos; ArgentinaFil: Cristeche, Estela Raquel. Instituto Nacional de Tecnología Agropecuaria (INTA). Centro de Investigación en Economía y Prospectiva (CIEP); ArgentinaFil: Barral, María Paula. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Balcarce; Argentina.Fil: Villarino, Sebastián. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.Fil: Villarino, Sebastián. Grupo de Estudio de Agroecosistemas y Paisajes Rurales (GEAP); ArgentinaFil: Zelarayan, Ana Liliana. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Salta; ArgentinaFil: Monjeau, Adrian. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.Fil: Monjeau, Adrian .Fundación Bariloche; Argentin