Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection

Considerable differences exist amongst countries in the mutation probability methods and thresholds used to select patients for BRCA1/2 genetic screening. In order to assess the added value of mutation probability methods, we have retrospectively calculated the BRCAPRO and Myriad II probabilities in 306 probands who had previously been selected for DNA-analysis according to criteria based on familial history of cancer. DNA-analysis identified 52 mutations (16.9%) and 11 unclassified variants (UVs, 3.6%). Compared to cancer history, a threshold ≥10% with BRCAPRO or with Myriad II excluded about 40% of the patients from analysis, including four with a mutation and probabilities <10% with both programs. All four probands had a BRCA2 mutation. BRCAPRO and Myriad II showed similar specificity at 10% threshold, overall BRCAPRO was more sensitive than Myriad II for the detection of mutations. Only two of the probands with an UV had probabilities >20% with BRCAPRO and Myriad II. In summary, BRCAPRO and Myriad II are more efficient than cancer history alone to exclude patients without a mutation. BRCAPRO performs better for the detection of BRCA1 mutations than of BRCA2 mutations. The Myriad II scores provided no additional information than the BRCAPRO scores alone for the detection of patients with a mutation. The use of thresholds excluded from analysis the majority of patients carrying an UV

The PLATO 2.0 mission

PLATO 2.0 has recently been selected for ESA's M3 launch opportunity (2022/24). Providing accurate key planet parameters (radius, mass, density and age) in statistical numbers, it addresses fundamental questions such as: How do planetary systems form and evolve? Are there other systems with planets like ours, including potentially habitable planets? The PLATO 2.0 instrument consists of 34 small aperture telescopes (32 with 25 s readout cadence and 2 with 2.5 s candence) providing a wide field-of-view (2232 deg 2) and a large photometric magnitude range (4-16 mag). It focusses on bright (4-11 mag) stars in wide fields to detect and characterize planets down to Earth-size by photometric transits, whose masses can then be determined by ground-based radial-velocity follow-up measurements. Asteroseismology will be performed for these bright stars to obtain highly accurate stellar parameters, including masses and ages. The combination of bright targets and asteroseismology results in high accuracy for the bulk planet parameters: 2 %, 4-10 % and 10 % for planet radii, masses and ages, respectively. The planned baseline observing strategy includes two long pointings (2-3 years) to detect and bulk characterize planets reaching into the habitable zone (HZ) of solar-like stars and an additional step-and-stare phase to cover in total about 50 % of the sky. PLATO 2.0 will observe up to 1,000,000 stars and detect and characterize hundreds of small planets, and thousands of planets in the Neptune to gas giant regime out to the HZ. It will therefore provide the first large-scale catalogue of bulk characterized planets with accurate radii, masses, mean densities and ages. This catalogue will include terrestrial planets at intermediate orbital distances, where surface temperatures are moderate. Coverage of this parameter range with statistical numbers of bulk characterized planets is unique to PLATO 2.0. The PLATO 2.0 catalogue allows us to e.g.: - complete our knowledge of planet diversity for low-mass objects, - correlate the planet mean density-orbital distance distribution with predictions from planet formation theories,- constrain the influence of planet migration and scattering on the architecture of multiple systems, and - specify how planet and system parameters change with host star characteristics, such as type, metallicity and age. The catalogue will allow us to study planets and planetary systems at different evolutionary phases. It will further provide a census for small, low-mass planets. This will serve to identify objects which retained their primordial hydrogen atmosphere and in general the typical characteristics of planets in such low-mass, low-density range. Planets detected by PLATO 2.0 will orbit bright stars and many of them will be targets for future atmosphere spectroscopy exploring their atmosphere. Furthermore, the mission has the potential to detect exomoons, planetary rings, binary and Trojan planets. The planetary science possible with PLATO 2.0 is complemented by its impact on stellar and galactic science via asteroseismology as well as light curves of all kinds of variable stars, together with observations of stellar clusters of different ages. This will allow us to improve stellar models and study stellar activity. A large number of well-known ages from red giant stars will probe the structure and evolution of our Galaxy. Asteroseismic ages of bright stars for different phases of stellar evolution allow calibrating stellar age-rotation relationships. Together with the results of ESA's Gaia mission, the results of PLATO 2.0 will provide a huge legacy to planetary, stellar and galactic science

Olga Verderese: uma vida para a enfermagem Olga Verderese: una vida para la enfermería Olga Verderese: a life dedicated to nursing

A pesquisa teve como objetivos: descrever a trajetória educacional e profissional, de Olga Verderese e destacar suas notáveis contribuições para o campo científico da profissão. Apoiou-se nos conceitos de habitus e de campo científico de Bourdieu. Estudo histórico-social, utilizou fontes como: entrevistas de Olga, tese e dissertação sobre a temática e documentos como artigos, livros e recomendações da ABEn. Considera que a biografada possuía um capital social reconhecido quando do ingresso na Enfermagem. Olga atuou na Escola de Enfermagem da Bahia e de Porto Alegre e teve longa permanência na Organização Pan-Americana de Saúde, com destacada atuação na América Latina. Além disso, na década de 50 participou da pesquisa Levantamento de Recursos e Necessidades de Enfermagem no Brasil.<br>La investigación tuvo como objetivos: describir la trayectoria educacional y profesional, de Olga Verderese y destacar sus notables contribuciones al campo científico de la profesión. Se apoyó en los conceptos de habitus y de campo científico de Bourdieu. Estudio histórico-social, utilizó fuentes como: entrevistas de Olga, tesis y disertación sobre la temática y documentos como artículos, libros y recomendaciones de la ABEn. Considera que la biografiada tenía un capital social reconocido cuando ingresó a la Enfermería. Olga actuó en las Escuelas de Enfermería de Bahia y de Porto Alegre y tuvo larga permanencia en la Organización Panamericana de la Salud, con destacada actuación en América Latina. Además, en la década de 50 participó de la investigación Levantamiento de Recursos y Necesidades de la Enfermería en Brasil.<br>The aim of the research was to describe the educational and professional history of Olga Verderese and highlight her remarkable contributions to the scientific field of the profession. It was based on Bourdieu's concepts of habitus and scientific field. The sociohistorical study used sources such as interviews with Olga Verderese, a thesis and a dissertation on the topic and documents such as articles, books and recommendations by the Brazilian Nursing Association (ABEn). It considers that the biographee had a recognized social capital when she took up Nursing. Olga Verderese worked at the Nursing Schools of Bahia and Porto Alegre and remained for a long time at the Pan-American Health Organization, with outstanding work in Latin America. In addition, in the 1950s she took part in the research called Survey of Resources and Needs of Nursing in Brazil

Effects of restoration management on the estuarine isopod Cyathura carinata: mediation by trematodes and habitat change

Abstract A restoration programme was introduced in the Mondego Estuary (Portugal) to recover seagrass beds of Zostera noltii endangered by eutrophication. A long-term survey of 10 years was used to assess the development of the processes involved, focusing one of the key species (Cyathura carinata, Isopoda). The mitigation measures implemented since 1998 (nutrient loading reduction, freshwater circulation improvement and seagrass bed protection) enhanced water quality and seagrass recovery, thus preventing the development of macroalgal blooms. C. carinata was resilient to the occurrence of floods and macroalgal blooms, although both events caused dispersion of individuals. This isopod was not much influenced by the changes occurring in the estuary, showing an unalterable population structure during the entire study period. After 1998, its density and biomass became more stable at an inner unvegetated sand flat area, where this isopod was most abundant; its population slightly increased in a bare mud flat at the middle section of the estuary; but it could not establish successfully in a downstream Z. noltii bed, contrarily to other common estuarine species. Apart from other unknown reasons, the disrupted balanced between trematodes and their hosts, caused by the eutrophication processes, may have an important role in the discontinuity of C. carinata at the Z. noltii bed. If the intertidal areas become fully restored to the original seagrass coverage, high prevalence and intensity trematodes may prevent this isopod and other crustaceans from recovering within the intervened areas, by enhancing host mortality and recruitment failure. In order to avoid this kind of situation, it may be necessary to survey the levels of parasite infestation within the target hosts and safeguard areas where crustaceans present healthy populations