Caracterização geológica e petrológica preliminar do vulcanismo ácido da região de Campos Novos, Santa Catarina

Geological mapping on a scale of 1:50,000 was carried out in an area of 1800 km2, located in the central part of the Videira and Barracão Sheets in the Campos Novos, Celso Ramos and Anita Garibaldi municipalities, Santa Catarina. Five basic flows followed by six acidic units, similar to ignimbrites, were recognized and comprise a 500- to 600- m thick pile. Petrographic and major element geochemical data reveal the tholeitic character of the association and its relationship with low-titanium basalts and Palmas-type acidic rocks. Preliminary petrogenetic study suggests that the acid rocks originated by partial melting of a gabbroic parent which may be the intrusive equivalent of the basic flows of the study area.Trabalhos de mapeamento geológico em escala 1:50.000 foram realizados numa área de 1800 km2, localizada na região centro-sul do estado de Santa Catarina, cobrindo parte das folhas de Videira e Barracão, nos municípios de Campos Novos, Celso Ramos e Anita Garibaldi. Foram reconhecidos 5 derrames básicos sobrepostos por 6 unidades ácidas do tipo ignimbrito, perfazendo um pacote com espessura de 500 a 600 metros. Estudos petrográficos e litoquímicos de elementos maiores revelam o caráter toleítico da associação e sua correlação com os basaltos baixo-titânio e ácidas tipo Palmas. Um ensaio petrogenético preliminar sugere a origem das rochas ácidas por fusão parcial de uma fonte gabróica que pode ser o correspondente intrusivo dos derrames básicos registrados na área estudada

OPTIMIZATION OF TISSUE SAMPLES FOR THE DEVELOPMENT AND VALIDATION OF DISEASE BIOMARKERS: THE OPTIMARK PROJECT

Europe Biobank Week, Sept 13-16, 2016. Vienna, AustriaS

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.Peer reviewe

¿Cómo evaluar e intervenir sobre la disfemia? Un análisis de percepciones de especialistas en logopedia

La tartamudez se define como un trastorno de la fluidez del habla que afecta a la comunicación. Este trastorno, resulta complejo y puede suponer un importante desafío para muchos logopedas y otros profesionales. Hasta el momento, no abundan las investigaciones focalizadas acerca de cómo evaluar e intervenir en la tartamudez desde la perspectiva de los profesionales en logopedia. Precisamente por ello, el objetivo del presente estudio es conocer cuáles son los principales métodos de evaluación e intervención para la tartamudez que utilizan los logopedas en el contexto español y la satisfacción que tienen con éstos. Para ello, se administró una encuesta en la que participaron un total de 123 logopedas y, posteriormente, se efectuó un análisis cuantitativo de los datos obtenidos. Los resultados permitieron conocer los diferentes métodos de evaluación e intervención más ampliamente utilizados en el tratamiento de la tartamudez, aunque se han observado ciertas dificultades para alcanzar un consenso en la utilización de los mismos. Además, los logopedas reclaman la necesidad de confeccionar nuevos instrumentos de evaluación y de una mayor colaboración por parte de los centros escolares. Por tanto, resultaría primordial adoptar un enfoque holístico tratando de enseñar a los sujetos con tartamudez estrategias para afrontar la fluidez y, a la vez, aprender a convivir y manejar el trastorno

In search of an evidence-based strategy for quality assessment of human tissue samples: report of the tissue biospecimen research working group of the spanish biobank network

The purpose of the present work is to underline the importance of obtaining a standardized procedure to ensure and evaluate both clinical and research usability of human tissue samples. The study, which was carried out by the Biospecimen Science Working Group of the Spanish Biobank Network, is based on a general overview of the cur‑ rent situation about quality assurance in human tissue biospecimens. It was conducted an exhaustive review of the analytical techniques used to evaluate the quality of human tissue samples over the past 30 years, as well as their reference values if they were published, and classifed them according to the biomolecules evaluated: (i) DNA, (ii) RNA, and (iii) soluble or/and fxed proteins for immunochemistry. More than 130 publications released between 1989 and 2019 were analysed, most of them reporting results focused on the analysis of tumour and biopsy samples. A qual‑ ity assessment proposal with an algorithm has been developed for both frozen tissue samples and formalin-fxed parafn-embedded (FFPE) samples, according to the expected quality of sample based on the available pre-analytical information and the experience of the participants in the Working Group. The high heterogeneity of human tissue samples and the wide number of pre-analytic factors associated to quality of samples makes it very difcult to harmo‑ nize the quality criteria. However, the proposed method to assess human tissue sample integrity and antigenicity will not only help to evaluate whether stored human tissue samples ft for the purpose of biomarker development, but will also allow to perform further studies, such as assessing the impact of diferent pre-analytical factors on very well characterized samples or evaluating the readjustment of tissue sample collection, processing and storing procedur