Deleterious Mutations in the TPO Gene Associated with Familial Thyroid Follicular Cell Carcinoma in Dutch German Longhaired Pointers

Familial thyroid cancer originating from follicular cells accounts for 5–15% of all the thyroid carcinoma cases in humans. Previously, we described thyroid follicular cell carcinomas in a large number of the Dutch German longhaired pointers (GLPs) with a likely autosomal recessive inheritance pattern. Here, we investigated the genetic causes of the disease using a combined approach of genome-wide association study and runs of homozygosity (ROH) analysis based on 170k SNP array genotype data and whole-genome sequences. A region 0–5 Mb on chromosome 17 was identified to be associated with the disease. Whole-genome sequencing revealed many mutations fitting the recessive inheritance pattern in this region including two deleterious mutations in the TPO gene, chr17:800788G>A (686F>V) and chr17:805276C>T (845T>M). These two SNP were subsequently genotyped in 186 GLPs (59 affected and 127 unaffected) and confirmed to be highly associated with the disease. The recessive genotypes had higher relative risks of 16.94 and 16.64 compared to homozygous genotypes for the reference alleles, respectively. This study provides novel insight into the genetic causes leading to the familial thyroid follicular cell carcinoma, and we were able to develop a genetic test to screen susceptible dogs.</p

Antibiotic resistance of Staphylococcus aureus associated with subclinical and clinical mastitis in Uruguay during an eight-year period

Records of in vitro susceptibility tests performed between 2008 and 2015 were retrospectively reviewed in order to evaluate the dynamic profiles of possible changes in antimicrobial resistance of Staphylococcus aureus isolated from milk samples of cows with subclinical mastitis from 12 different Uruguayan Provinces. The results of 1,631 isolates tested by disk diffusion techniquefor susceptibility to penicillin and erythromycin were analysed. The possible tendency or changes in the behaviour of this pathogen against penicillin and erythromycin in the 8 year period was evaluated using the chi-square tests for trend and the homogeneity. The highest rate of resistance was observed for penicillin (36.9% in 2010), while erythromycin showed a resistance rate significantly lower (5.7% in 2015). The test for trend showed a significant trend towards decreased resistance to penicillin, whereas for erythromycin an increased resistance trend was observed. The determination of the scope of the problem is essential for the formulation and monitoring of effective response to anti-microbial resistance (AMR). Antibiotic assessment in Uruguay is now being reviewed with the objective of limiting antibiotics prescription to professionals trained to select a successful therapy, choosing the appropriated drug and treatment duration according each situation. To generate knowledge on the magnitude and tendency of the AMR problem using country-specific information must be a priority

Antibiotic resistance genes detected in the marine sponge <i>Petromica citrina</i> from Brazilian coast

Although antibiotic-resistant pathogens pose a significant threat to human health, the environmental reservoirs of the resistance determinants are still poorly understood. This study reports the detection of resistance genes (ermB, mecA, mupA, qnrA, qnrB and tetL) to antibiotics among certain culturable and unculturable bacteria associated with the marine sponge Petromica citrina. The antimicrobial activities elicited by P. citrina and its associated bacteria are also described. The results indicate that the marine environment could play an important role in the development of antibiotic resistance and the dissemination of resistance genes among bacteria

Low-Cost Methods for Molecular Characterization of Mutant Plants: Tissue Desiccation, DNA Extraction and Mutation Discovery: Protocols

Plant Breeding/Biotechnology; Biological Techniques; Nucleic Acid Chemistr

How fast is fast? Eco-evolutionary dynamics and rates of change in populations and phenotypes

It is increasingly recognized that evolution may occur in ecological time. It is not clear, however, how fast evolution – or phenotypic change more generally – may be in comparison with the associated ecology, or whether systems with fast ecological dynamics generally have relatively fast rates of phenotypic change. We developed a new dataset on standardized rates of change in population size and phenotypic traits for a wide range of species and taxonomic groups. We show that rates of change in phenotypes are generally no more than 2/3, and on average about 1/4, the concurrent rates of change in population size. There was no relationship between rates of population change and rates of phenotypic change across systems. We also found that the variance of both phenotypic and ecological rates increased with the mean across studies following a power law with an exponent of two, while temporal variation in phenotypic rates was lower than in ecological rates. Our results are consistent with the view that ecology and evolution may occur at similar time scales, but clarify that only rarely do populations change as fast in traits as they do in abundance

How fast is fast? Eco-evolutionary dynamics and rates of change in populations and phenotypes

It is increasingly recognized that evolution may occur in ecological time. It is not clear, however, how fast evolution – or phenotypic change more generally – may be in comparison with the associated ecology, or whether systems with fast ecological dynamics generally have relatively fast rates of phenotypic change. We developed a new dataset on standardized rates of change in population size and phenotypic traits for a wide range of species and taxonomic groups. We show that rates of change in phenotypes are generally no more than 2/3, and on average about 1/4, the concurrent rates of change in population size. There was no relationship between rates of population change and rates of phenotypic change across systems. We also found that the variance of both phenotypic and ecological rates increased with the mean across studies following a power law with an exponent of two, while temporal variation in phenotypic rates was lower than in ecological rates. Our results are consistent with the view that ecology and evolution may occur at similar time scales, but clarify that only rarely do populations change as fast in traits as they do in abundance

Low-Cost Methods for Molecular Characterization of Mutant Plants: Tissue Desiccation, DNA Extraction and Mutation Discovery: Protocols

Plant Breeding/Biotechnology; Biological Techniques; Nucleic Acid Chemistr

Implementación de una suite gráfica para reforzar el aprendizaje en representación de contenido multimedia

Las prácticas de las asignaturas en los grados de Ingeniería Informática se diseñan habitualmente para que los estudiantes formulen y construyan la solución a un determinado problema usando algún lenguaje de programación. Este tipo de prácticas son adecuadas cuando el objetivo es el aprendizaje o refinamiento de sus habilidades en ese lenguaje. Sin embargo, si el objetivo es que profundicen sobre las ideas desarrolladas en las clases de teoría, una aproximación más eficiente es proporcionar a los estudiantes una herramienta software que les permita trabajar y analizar conceptos teóricos de forma sencilla y práctica. En el contexto de la información multimedia, la mayoría de las aplicaciones comerciales están orientadas al desarrollo profesional y resultan poco adecuadas desde un punto de vista didáctico. Por esa razón, los autores de este artículo hemos decidido desarrollar una suite gráfica que permita a los estudiantes comprobar de forma visual los conceptos teóricos de la asignatura y analizar el impacto de múltiples factores relacionados con la representación y procesado de imágenes. Con esta herramienta, se evita que los estudiantes tengan que programar directamente las funcionalidades en un lenguaje que no dominan, de forma que pueden invertir su tiempo en trabajar con dicha herramienta y lograr un aprendizaje más profundo.The practical activities for Degrees in Computer Engineering are usually designed to guarantee the students state and obtain the solution for a specific problem using some programming language. This type of activities are suitable when the purpose is to improve their skills in such a language. However, when the purpose is that the students achieve a deeper knowledge about theoretical ideas, a more efficient approach is to provide them a software tool to develop and analyse the theoretical concepts in a simple and practical way. In the context of multimedia information, most commercial applications are focused on professional development and they are not suitable from an educational point of view. For that, we decided to implement a graphic suite which allows the students to visually test the theoretical concepts in the subject, and to analyse the impact of multiple factors related to the representation and processing of images. Using this tool, the students do not need to implement the programme’s features, but they can spend their time on working with the developed tool and achieving a deeper learning.Este trabajo ha sido financiado por la Xunta de Galicia (ED431C 2016-045, ED431G/01) y la Agencia Estatal de Investigación de España (TEC2016-75067-C4-1-R)