Análisis de la diversidad genética y conectividad de ballenas jorobadas (Megaptera novaeangliae) del Pacífico Sudeste en la costa de Esmeraldas, Ecuador durante la temporada 2012

The humpback whale (Megaptera novaeangliae) is a widely distributed marine mammal, which inhabits all oceans of the world. The world population has been drastically reduced due to commercial whaling during the last two centuries. There is little information about the degree of genetic exchange between different populations of humpback whales in the Southern Hemisphere. This work is the second phase of a research, which aims to assess the genetic diversity and connectivity of humpback whales off the coast of Esmeraldas, Ecuador. A total of 22 tissue samples were obtained using a Paxarms Biopsy system. Mitochondrial DNA was extracted and sequenced to establish the genetic diversity of humpback whales off the coast of Esmeraldas during the 2012 season. A total of sixteen different haplotypes were identified. Of these haplotypes, four were new to Ecuador, three of them had been previously reported in other populations of the stock G (Colombia and Santa Elena), and the other corresponded to a new sequence which has not been previously reported in the Southeast Pacific population, but in the French Polynesia. Haplotype diversity (h±SD) was estimated to be of 0.9567 ± 0.0290 and the nucleotide diversity (π±SD) 0.0214 ± 0.0113, reflecting high genetic diversity among individuals inhabiting the coasts of Ecuador, compared to other populations in both breeding and feeding areas in the Southeast Pacific.La ballena jorobada (Megaptera novaeangliae) es un mamífero marino migratorio, que está distribuido en todos los océanos de mundo. Su población mundial se ha reducido drásticamente producto de la cacería comercial durante los dos últimos siglos. Se tiene poca información acerca del grado de intercambio existente entre las diferentes poblaciones de ballenas jorobadas en el Hemisferio Sur. Este trabajo es la segunda fase de una investigación, cuyo objetivo es evaluar la diversidad genética y conectividad de las ballenas jorobadas que visitan la costa de Esmeraldas, Ecuador. Un total de 22 muestras de piel de ballena se obtuvieron mediante dardos de biopsia. El ADN mitocondrial fue extraído y secuenciado. Un total de dieciséis haplotipos diferentes fueron determinados. De estos haplotipos, 4 fueron nuevos para Ecuador, tres de ellos ya se habían reportado anteriormente en otras poblaciones del stock G (Colombia y Santa Elena), y el otro correspondió a una secuencia nueva no reportada antes en el Pacífico Sudeste pero sí en la Polinesia Francesa. Se estimó un valor de 0.9567 ± 0.0290 para la diversidad de haplotipos (h ± sd) y de 0.0214 ± 0.0113 para diversidad de nucleótidos (π ± sd), lo que refleja una alta diversidad genética de las ballenas jorobadas en las costas ecuatorianas en comparación a otras poblaciones tanto en áreas de alimentación como de reproducción en el Pacífico Sudeste

Development of new filaments for 3D printing based on bio-inspired ceramics

3D printing allows the development of devices in a wide range of sectors, including the automotive industry, construction, aeronautics, food, textiles and also biomedical, among others. There are several technologies being the impression by molten deposition (FDM) one of the most widespread. In the particular case of biomedical engineering, three are the main application and research axes: (1) biomodels for the preparation of surgical interventions, (2) design and manufacture of customized biomedical devices and (3) porous scaffolds for regenerative medicine. The objective of the present study focuses on the development of a new filament for 3D-FDM printing composed of polylactic acid (PLA) and a biphasic crystalline bioceramic of marine origin (Biofast). Several filament formulations were obtained after extrusion of mixtures with variable proportions PLA / Biofast. The physicalchemical properties of both the filament and the printed pieces were studied by scanning electron microscopy, Raman and IR spectroscopy. The analyzes show that the bioceramic particles are evenly distributed in the polymer matrix and their incorporation can be controlled depending on the selected mixture. As for the crystal structure and links, manufacturing processes do not originate modifications that may affect the biocompatibility of the final device. Thus, these new filaments are shown as potential candidates for application in biomedical engineering.Xunta de Galicia | Ref. GRC-ED431C 2017_51Xunta de Galicia | Ref. ED431D 2017/13Interreg project | Ref. 0245 IBEROS1EInterreg project | Ref. 0302 CVMARI1

Correction: A feasible pathway to stabilize monoclinic and tetragonal phase coexistence in barium titanate-based ceramics

Depto. de Física de MaterialesFac. de Ciencias FísicasTRUEpu

Prevalence of Lynch Syndrome among Patients with Newly Diagnosed Endometrial Cancers

Background: Lynch syndrome (LS) is a hereditary condition that increases the risk for endometrial and other cancers. The identification of endometrial cancer (EC) patients with LS has the potential to influence life-saving interventions. We aimed to study the prevalence of LS among EC patients in our population. Methods: Universal screening for LS was applied for a consecutive series EC. Tumor testing using microsatellite instability (MSI), immunohistochemistry (IHC) for mismatch-repair (MMR) protein expression and MLH1-methylation analysis, when required, was used to select LS-suspicious cases. Sequencing of corresponding MMR genes was performed. Results: One hundred and seventy-three EC (average age, 63 years) were screened. Sixty-one patients (35%) had abnormal IHC or MSI results. After MLH1 methylation analysis, 27 cases were considered suspicious of LS. From these, 22 were contacted and referred for genetic counseling. Nineteen pursued genetic testing and eight were diagnosed of LS. Mutations were more frequent in younger patients (<50 yrs). Three cases had either intact IHC or MSS and reinforce the need of implement the EC screening with both techniques. Conclusion: The prevalence of LS among EC patients was 4.6% (8/173); with a predictive frequency of 6.6% in the Spanish population. Universal screening of EC for LS is recommended.This study was supported by Conselleria Sanidad Comunidad Valenciana, Spain (AP/177/10) (http://www.san.gva.es/); Biomedical Research Foundations of the Alicante University Hospital (PI14/2006 and NI02/2011) (http://www.dep19.san.gva.es/); and the Elche University Hospital, Spain (FIBElx-CO11/03) (http://www.dep20.san.gva.es/)

Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy

Dilated cardiomyopathy is a heterogeneous entity that leads to heart failure and malignant arrhythmias. Nearly 50% of cases are inherited; therefore, genetic analysis is crucial to unravel the cause and for the early identification of carriers at risk. A large number of variants remain classified as ambiguous, impeding an actionable clinical translation. Our goal was to perform a comprehensive update of variants previously classified with an ambiguous role, applying a new algorithm of already available tools. In a cohort of 65 cases diagnosed with dilated cardiomyopathy, a total of 125 genetic variants were classified as ambiguous. Our reanalysis resulted in the reclassification of 12% of variants from an unknown to likely benign or likely pathogenic role, due to improved population frequencies. For all the remaining ambiguous variants, we used our algorithm; 60.9% showed a potential but not confirmed deleterious role, and 24.5% showed a potential benign role. Periodically updating the population frequencies is a cheap and fast action, making it possible to clarify the role of ambiguous variants. Here, we performa comprehensive reanalysis to help to clarify the role of most of ambiguous variants. Our specific algorithms facilitate genetic interpretation in dilated cardiomyopathy

A feasible pathway to stabilize monoclinic and tetragonal phase coexistence in barium titanate-based ceramics

Multiphase coexistence has attracted significant interest in recent years because its control has entailed a significant breakthrough for the piezoelectric activity enhancement of lead-free piezoelectric oxides. However, the comprehension of phase coexistence still has many controversies including an adequate synthesis process and/or the role played by crystalline phases in functional properties. In this study, functional barium titanate [BaTiO_(3), (BTO)]-based materials with tunable functional properties were obtained by compositional modification via Bismuth (Bi) doping. Towards this aim, we systematically synthesized BTO-based materials by a sol-gel method, focusing on the control of Bi substitution in the BaTiO_(3) structure. In particular, we found that the substitution of Bi^(+3) leads to the stabilization of a monoclinic-tetragonal (M-T) phase boundary close to room temperature, which facilities the polarization process of the system. As a surprising result, we believe that the simple and cost-effective strategy and design principles described in this work open up the possibility of obtaining BTO-based lead-free ceramics with enhanced properties induced by the stabilization of the phase coexistence, expanding their application range