Chromosome 6 partial trisomy with insertion in 14q in oatient with mental retardation and dysmorphic features

Descrevemos o paciente HP, do sexo masculino, o qual apresentava quadro clínico de retardo mental leve, clinodactilia, camptodactilia, padrão alterado das pregas nas mãos e fenda palatina incompleta. Além do exame clínico, foram utilizadas técnicas citogenéticas convencionais com bandas G e hibridização in situ por fluorescência (FISH) com as sondas WCP 14; WCP 6; tel6p; tel6q. Foram analisadas 15 metáfases por citogenética convencional (GTG), onde todas as células apresentaram material adicional no cromossomo 14 [46,XY,add(14)]. A mãe apresentou cariótipo 46,XX,t(6q;14q) e o pai, cariótipo normal. O material do paciente foi submetido à técnica de FISH com sonda WCP 6, evidenciando a porção adicional como sendo material do cromossomo 6 inserido em 14q22. As sondas subteloméricas 6p/q marcaram os quatro pontos normalmente esperados. O paciente apresenta quadro clínico que resultou de uma trissomia parcial do cromossomo 6. Este material adicional está inserido no braço longo do cromossomo 14. O cromossomo derivado de 14 tem origem materna.This article presents the case of a male patient who presented mild mental retardation, clinodactyly, camptodactyly, abnormal pattern of the hand skinfolds and clef t palate. In addition to the clinical examination, conventional cytogenetic techniques with G-bands and fluorescence in situ hybridization (FISH) were used with probes WCP 14, WCP 6, and tel6p. Fif teen metaphases were analyzed through conventional cytogenetics. All cells presented additional material on chromosome 14 [46,XY,add(14)]. The patient’s mother presented karyotype 46,XX,t(6q;14q), and the patient’s father presented normal karyotype. The patient’s material was submitted to FISH technique with probe WCP 6. This procedure showed that the additional portion was originated in chromosome 6 inserted at 14q22. The subtelomeric probes 6p/q determined the four typical breakpoints. The patient’s clinical status is a consequence of a partial trisomy of chromosome 6. This additional material is inserted in chromosome 14 long arm. The chromosome originated from chromosome 14 has maternal origin

Política Nacional de Saúde Integral Lésbicas, Gays, Bissexuais, Travestis e Transexuais

O módulo Política Nacional de Saúde Integral LGBT foi organizado de forma a contribuir com os profissionais de saúde, notadamente os trabalhadores do SUS, para que realizem suas ações de cuidado, promoção e prevenção, com qualidade, de forma equânime, garantindo à população LGBT acesso à saúde integral. O curso é um dos módulos desenvolvidos pela UNA-SUS UERJ que integram o Programa de Valorização da Atenção Básica (PROVAB) e se divide em 03 unidades cujas áreas temáticas são: Gênero e sexualidade; O estudo da Política LGBT e seus marcos; Realizando o acolhimento e o cuidado à População LGBT. Este recurso é referente a 2ª oferta do módulo pela UERJ.Oferta 02Ministério da Saúd

Adubação nitrogenada associada ao emprego de reguladores de crescimento em trigo cv. Mirante

This study aimed to evaluate the nitrogen topdressing effects applied on vegetative cover and during the reproductive stage associated with associated with the use of reducing growth on plant height, yield and total protein content in grains of wheat cv. Mirante. The experiment was carried out at field conditions during 2011 growing season in Lages, SC. The experimental was a randomized block design with four replications in a 2x7 factorial, a total of 14 treatments consisted of twice nitrogen topdressing (vegetative and reproductive stage), six plant growth retardant treatments (mepiquat chloride, chlormequat chloride, chlorocholine chloride, ethyl-trinexapac, prohexadione-Ca and ethepon) and two doses of retardant. The plants that received N at vegetative received a dose of plant growth retardants used in stage 31 of Zadoks, and plants that received N at vegetative + reproductive also received two doses of retardants applied in stages 31 and 32 of Zadoks (first and second node visible). The treatments with ethyltrinexapac or prohexadione-Ca, allowed the plant height reduction of at least 10 cm and did not affect the characteristics: number of spikelets per spike, grains diameter higher than 1.75 mm, thousand grain weight and hectoliter mass. The N topdressing at reproductive stage of wheat allowed increase in total protein content from 12.2 to 13.9%. There were no differences in yield between the times of nitrogen applied nor due to plant growth retardant doses, with an average yield of 4,750 kg ha-1. However, related to the aspects of grain quality, it was observed that N topdressing at reproductive stage of crop lead to high grain quality, high grain specific mass and to high total protein content.O presente trabalho teve como objetivo avaliar os efeitos da aplicação do nitrogênio em cobertura na fase vegetativa e reprodutiva, associado ao emprego de redutores de crescimento sobre a altura das plantas, produtividade e teor de proteína total nos grãos de trigo cv. Mirante. O experimento foi conduzido a campo, durante o ano agrícola de 2011, em Lages, SC. O delineamento experimental empregado foi o de blocos ao acaso, com quatro repetições, em arranjo de 2x7, totalizando 14 tratamentos, compostos por duas épocas de aplicação de nitrogênio em cobertura (estádio vegetativo e reprodutivo), seis redutores de crescimento (cloreto de mepiquate, cloreto de chlormequate, cloreto de clorocolina, ethyl-trinexapac, prohexadione-Ca e etefon) e duas doses de redutores de crescimento. Sendo assim as plantas que receberam N na fase vegetativa receberam uma dose dos redutores aplicados no estádio 31 de Zadoks, e as plantas que receberam N na fase vegetativa+reprodutiva também receberam duas doses de redutores aplicados nos estádios 31 e 32 de Zadoks (primeiro e segundo nó visível). O emprego dos redutores de crescimento, ethyl-trinexapac e prohexadione-Ca, possibilitaram a redução de pelo menos 10 cm na altura das plantas, não afetando os caracteresnúmero de espiguetas por espigas, grãos de diâmetro maior que 1,75 mm, massa de mil grãos e peso hectolitro. A aplicação de N na fase reprodutiva do trigo possibilitou incremento no teor de proteína total de 12,2 para 13,9%. Não se observaram diferenças no rendimento de grãos, tanto para as épocas de aplicação de nitrogênio como também aos redutores de crescimento e suas doses, sendo a produtividade média de 4.750 kg ha-1. Entretanto, nos aspectos relacionados à qualidade do grão, observou-se que a aplicação de nitrogênio no estádio reprodutivo da cultura propiciou uma produção de grãos de melhor qualidade com maior massa, peso hectolitro e teor de proteína total

Tillering as a trait to mitigate damages caused to maize by the main stem defoliation

O objetivo deste trabalho foi verificar se os perfilhos podem mitigar os prejuízos ocasionados pela desfolha do colmo principal em milho. Os experimentos foram implantados em Lages, SC, em 20/10/2006 e 31/10/2008. O delineamento experimental utilizado foi o de blocos ao acaso, com parcelas subdivididas. Na parcela principal, foram testados dois destinos dos perfilhos: manutenção até a colheita e remoção quando o colmo principal apresentava nove folhas expandidas (V9). Nas subparcelas, avaliaram-se quatro épocas de desfolha do colmo principal: V9, V15 (quinze folhas expandidas), VT (pendoamento) e folhas preservadas até a colheita. Avaliou-se o híbrido P30F53, à densidade de 55 mil plantas por hectare. Determinaram-se: a produtividade total, a do colmo principal e a dos perfilhos. As desfolhas realizadas em V15 e VT diminuíram a produtividade, em comparação ao tratamento sem desfolha, independentemente do destino dos perfilhos. Quando o milho foi desfolhado em V15 e VT, a produtividade total das parcelas em que os perfilhos foram mantidos foi maior do que daquelas em que eles foram removidos. Isto indica que os perfilhos foram benéficos ao colmo principal do milho, quando houve restrições à produção de carboidrato oriundas da perda de área foliar próximo do florescimento.The objective of this work was to verify if tillers can mitigate damages caused by the main stem defoliation in maize. The experiments were set up in Lages, SC, Brazil, on 10/20/2006 and 10/31/2008. The experimental design was a randomized block with split plots. Two tiller destinations were tested in the main plots: tillers preserved until harvesting, and tillers removed when the main stem had nine expanded leaves (V9). Four main stem defoliation times were assessed in the split plots: V9, V15 (15 expanded leaves), VT (tasseling), and leaf maintenance until harvesting. Hybrid P30F53 was tested at 55 thousand plants per hectare. Total grain yield, tiller grain yield and main stem grain yield were determined. Defoliations performed at V15 and VT decreased total productivity, in comparison to the control, regardless of tiller destination. When the main stem was defoliated at V15 and VT, plots where tillers were kept promoted higher total grain yield than those where tillers were removed. This indicates that tillers were instrumental to maize main stem when there were restrictions to the production of carbohydrates due to leaf area loss close to flowering

Different strategies to retrieve aerosol properties at night-time with the GRASP algorithm

This study evaluates the potential of the GRASP algorithm (Generalized Retrieval of Aerosol and Surface Properties) to retrieve continuous day-to-night aerosol properties, both column-integrated and vertically resolved. The study is focused on the evaluation of GRASP retrievals during an intense Saharan dust event that occurred during the Sierra Nevada Lidar aerOsol Profiling Experiment I (SLOPE I) field campaign. For daytime aerosol retrievals, we combined the measurements of the ground-based lidar from EARLINET (European Aerosol Research Lidar Network) station and sun–sky photometer from AERONET (Aerosol Robotic Network), both instruments co-located in Granada (Spain). However, for night-time retrievals three different combinations of active and passive remote-sensing measurements are proposed. The first scheme (N0) uses lidar night-time measurements in combination with the interpolation of sun–sky daytime measurements. The other two schemes combine lidar night-time measurements with nighttime aerosol optical depth obtained by lunar photometry either using intensive properties of the aerosol retrieved during sun–sky daytime measurements (N1) or using the Moon aureole radiance obtained by sky camera images (N2).This research has been supported by the European Union through the H2020 programme (ACTRIS-2, grant no. 654109) and the Spanish Ministry of Economy and Competitiveness (projects CMT2015-66742-R, CGL2016-81092- R, CGL2017-85344-R, RTI2018-097864-B-I00 and CGL2017- 90884-REDT)

Overview of the SLOPE I and II campaigns: aerosol properties retrieved with lidar and sun–sky photometer measurements

Jose Antonio Benavent-Oltra is funded by the University of Granada through "Plan Propio. Programa 7, Convocatoria 2019". Roberto Roman is funded by MINECO under the postdoctoral programme Juan de la Cierva-Incorporacion (IJCI2016-30007). Juan Andres Casquero-Vera is funded by MINECO under the predoctoral programme FPI (BES-2017-080015). Maria J. Granados-Munoz received funding from the European Union's Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant agreement No 796539. Oleg Dubovik was supported by the Labex CaPPA project, which is funded by the French National Research Agency under contract "ANR-11-LABX0005-01". This work was also supported by the Spanish Ministry of Economy and Competitiveness (projects CMT2015-66742-R, CGL2016-81092-R, CGL2017-85344-R, RTI2018-097864-B-I00 and CGL2017-90884-REDT), by the Andalusia Regional Government through project P18-RT-3820 and the Unity of Excellence "Maria de Maeztu" (project MDM-2016-0600) financed by the Spanish State Research Agency (AEI). The authors thankfully ac-knowledge the FEDER programme for the instrumentation used in this work, the University of Granada, which supported this study through the Excellence Units Program, and the Sierra Nevada National Park. We also thank Dr. Grisa Monick who provided the Aethalometer AVIO AE-33 installed on the aircraft. Thanks to AERONET and ACTRIS/AERONET Europe for the scientific and technical support. Finally, the authors would like to acknowledge the use of the GRASP inversion algorithm software (http://www.grasp-open.com, last access: 1 April 2020), in this work.The Sierra Nevada Lidar aerOsol Profiling Experiment I and II (SLOPE I and II) campaigns were intended to determine the vertical structure of aerosols by remote sensing instruments and test the various retrieval schemes for obtaining aerosol microphysical and optical properties with in situ measurements. The SLOPE I and II campaigns were developed during the summers of 2016 and 2017, respectively, combining active and passive remote sensing with in situ measurements at stations belonging to the AGORA observatory (Andalusian Global ObseRvatory of the Atmosphere) in the Granada area (Spain). In this work, we use the in situ measurements of these campaigns to evaluate aerosol properties retrieved by the GRASP code (Generalized Retrieval of Atmosphere and Surface Properties) combining lidar and sun-sky photometer measurements. We show an overview of aerosol properties retrieved by GRASP during the SLOPE I and II campaigns. In addition, we evaluate the GRASP retrievals of total aerosol volume concentration (discerning between fine and coarse modes), extinction and scattering coefficients, and for the first time we present an evaluation of the absorption coefficient. The statistical analysis of aerosol optical and microphysical properties, both column-integrated and vertically resolved, from May to July 2016 and 2017 shows a large variability in aerosol load and types. The results show a strong predominance of desert dust particles due to North African intrusions. The vertically resolved analysis denotes a decay of the atmospheric aerosols with an altitude up to 5 km a.s.l. Finally, desert dust and biomass burning events were chosen to show the high potential of GRASP to retrieve vertical profiles of aerosol properties (e.g. absorption coefficient and single scattering albedo) for different aerosol types. The aerosol properties retrieved by GRASP show good agreement with simultaneous in situ measurements (nephelometer, aethalometer, scanning mobility particle sizer, and aerodynamic particle sizer) performed at the Sierra Nevada Station (SNS) in Granada. In general, GRASP overestimates the in situ data at the SNS with a mean difference lower than 6 mu m(3) cm(-3) for volume concentration, and 11 and 2 Mm(-1)for the scattering and absorption coefficients. On the other hand, the comparison of GRASP with airborne measurements also shows an overestimation with mean absolute differences of 14 +/- 10 and 1.2 +/- 1.2 Mm(-1) for the scattering and absorption coefficients, showing a better agreement for the absorption (scattering) coefficient with higher (lower) aerosol optical depth. The potential of GRASP shown in this study will contribute to enhancing the representativeness of the aerosol vertical distribution and provide information for satellite and global model evaluation.University of GranadaMINECO under the postdoctoral programme Juan de la Cierva-Incorporacion IJCI2016-30007MINECO under the predoctoral programme FPI BES-2017-080015European Commission 796539French National Research Agency (ANR) ANR-11-LABX0005-01Spanish Ministry of Economy and Competitiveness CMT2015-66742-R CGL2016-81092-R CGL2017-85344-R RTI2018-097864-B-I00 CGL2017-90884-REDTAndalusia Regional Government P18-RT-3820Spanish State Research Agency (AEI) MDM-2016-0600Excellence Units ProgramSierra Nevada National Par

Robust estimation of bacterial cell count from optical density

Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals <1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data

DESENVOLVIMENTO DE PESSOAS PARA SUSTENTABILIDADE EMPRESARIAL: UMA ANÁLISE COMPARATIVA DAS AÇÕES PROMOVIDAS POR EMPRESAS BRASILEIRAS

This research comes from the observation that more and more Brazilian companies are implementing sustainable development strategies. However, each organization has its own opinions and approaches on how to deal with the challenges of sustainability. For this reason, the objective of this research is to analyze practices of staff development that contribute to better employee involvement with business sustainability, and to compare these practices with declared policies for sustainability. This is a qualitative research, based on exploratory stages and semi-structured interviews with Brazilian companies that publish sustainability reports. The results suggest four main conclusions: the polysemy of terms and concepts on Sustainable Development and Sustainability; the polarization of the debate on Sustainable Development and Sustainability in two opposing conceptual matrices; business investment in the preparation of employees to the Social Dialogue as a way of effectiveness of the policies of sustainability; and difficulties of companies to implement an Education for Sustainability because of the prevalence of corporate vision of education where the employee is more input, an operational man or reactiveUniversidade Federal FluminenseA presente pesquisa resulta da observação de que cada vez mais empresas brasileiras estão implementando estratégias de desenvolvimento sustentável. No entanto, cada organização tem suas próprias opiniões e abordagens sobre como lidar com os desafios da sustentabilidade. Neste sentido, o objetivo desta pesquisa é analisar práticas de desenvolvimento de pessoas que contribuem para uma maior participação dos empregados na implementação das políticas de sustentabilidade em empresas privadas e com isso analisar comparativamente o alinhamento destas ações com suas políticas. Trata-se de uma pesquisa qualitativa, com realização de etapas exploratórias e realização de entrevistas semiestruturadas com empresas brasileiras que publicam relatórios de sustentabilidade. Os resultados obtidos apontam quatro principais conclusões: a polissemia dos termos e conceitos sobre Desenvolvimento Sustentável e Sustentabilidade; a polarização dos debates sobre Desenvolvimento Sustentável e Sustentabilidade em duas matrizes conceituais opostas; o investimento das empresas na preparação dos empregados para o Diálogo Social como forma de efetivação das políticas de sustentabilidade; e a dificuldade das empresas em implementar uma Educação para a Sustentabilidade em razão da prevalência da concepção de educação corporativa onde o trabalhador é mais um insumo, um homem operacional ou reativo

Sustainability in the Brazilian Heavy Construction Industry: An Analysis of Organizational Practices

This study performs a comparison between the theoretical frameworks of sustainable development and its incorporation in the decision-making practices and models used by heavy construction companies. This study was conducted by using documentary analysis of corporate sustainability reports. Specifically, the content analysis method was used to examine the sustainability reports disclosed by the companies studied. The results indicate four main conclusions: first, the social, political and economic context directed the companies towards implementing sustainable management practices; second, human resource development follows the traditional model of training and development; third, there is an evident effort to balance economic goals and profit-making with social responsibility practices as a way to characterize the corporate commitment with sustainability; fourth, effective and indispensable measures to transform decision-making models were not adopted in the business practices analyzed, and thus the economic factor continues to be prioritized at the expense of social and environmental aspects in those models. This paper, in looking at three Brazilian multinational heavy construction companies, examines the synergy between the theoretical and the identified corporate sustainability practices. Lastly, this paper may be characterized as a descriptive study based on a literature review and an analysis of sustainability reports from the companies studied