Mutations In Sry And Wt1 Genes Required For Gonadal Development Are Not Responsible For Xy Partial Gonadal Dysgenesis.

The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation. In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis. In order to evaluate their role in abnormal testicular organogenesis, we screened for SRY and WT1 gene mutations in 10 children with XY partial gonadal dysgenesis, 2 of whom with a history of Wilms' tumor. The open reading frame and 360 bp of the 5' flanking sequence of the SRY gene, and the ten exons and intron boundaries of the WT1 gene were amplified by PCR of genomic DNA. Single-strand conformation polymorphism was initially used for WT1 mutation screening. Since shifts in fragment migration were only observed for intron/exon 4, the ten WT1 exons from all patients were sequenced manually. No mutations were detected in the SRY 5' untranslated region or within SRY open-reading frame sequences. WT1 sequencing revealed one missense mutation (D396N) in the ninth exon of a patient who also had Wilms' tumor. In addition, two silent point mutations were found in the first exon including one described here for the first time. Some non-coding sequence variations were detected, representing one new (IVS4+85A>G) and two already described (-7ATG T>G, IVS9-49 T>C) single nucleotide polymorphisms. Therefore, mutations in two major genes required for gonadal development, SRY and WT1, are not responsible for XY partial gonadal dysgenesis.3817-2

Polyphenolic and chromatic characterization of tropical red wines produced in the São Francisco river Valley (Northeast Brazil).

Young varietal and experimental wines from Vitis vinifera - Petit Verdot,Tempranillo and Syrah - cultivated in a tropical semiarid region (Northeast Brazil) were evaluated with regard to their phenolic composition and chromatic characteristics during a storage period of 12-month. The wine was stored in bottles and evaluated using spectrophotometry and high efficiency liquid chromatography to determine color, total polyphenols, anthocyanins, flavanols and flavonols. The Petit Verdot had a less color variation when compared to wines from temperate climates. Although the wines followed the traditional pattem of decreasing polyphenol concentration during storage, the concentrations of these compounds remained higher than those reported in literature, such as for the anthocyanins in Petit Verdot wines and transresveratrolin Syrah, showing possible beneficial health effects even after storag

Metabolic profiles of Brazilian tropical wines determined by H NMR spectroscopy and chemometrics.

Tropical wines are a new concept of vitiviniculture that is being developped principally in Brazil

Tecnologia para elaboração de vinhos finos licorosos tintos.

1. Vinhos Vinhos licorosos: classificação e importância; 2. Elaboração de vinhos licorosos de interesse; 2.1. Recioto della Valpolicella; 2.2. Vinho do Porto Vintage; 3. Objetivos da pesquisa geradora da tecnologia; 4. Metodologia; 4.1. Variedades de uva; 4.2. Desidratação das uvas; 4.3. Vinificações; 4.4. Análises de mostos e vinhos; 5. Resultados; 6. Protocolo de elaboração validado; 7. Características dos produtos originados do processo agroindustrial; 8. Conclusões e perspectivas de estudos visando ao aprimoramento dos produtos; 9. Referênciasbitstream/item/211450/1/SERIE-DOCUMENTOS-113-Publica-451-A4-CAPA-MIOLO-versao-2020-02-12.pd

Crescimento e nodulação de cultivares de feijoeiro em sistema orgânico de produção na fazendinha agroecológica do km 47.

O objetivo do trabalho foi avaliar o crescimento e a nodulação de cultivares de feijoeiro desenvolvido pelo programa de melhoramento genético da Embrapa Arroz Feijão, ao cultivo em sistema orgânico da Fazendinha Agroecológica do km 47, em Seropédica - RJ.CONAFE

Produção de cultivares de feijoeiro sob sistema orgânico de produção.

A adoção de sistemas orgânicos para produção de feijão demanda a identificação de cultivares adaptadas a este manejo. Com o objetivo de avaliar o rendimento de grãos de diferentes cultivares de feijoeiro (Phaseolus vulgaris L.), foi conduzido um experimento de campo no Sistema Integrado de Produção Agroecológica do km 47, em Seropédica-RJ. Foram avaliadas 16 cultivares de feijoeiro, buscando abranger diferentes tipos comerciais de grãos, entre maio a agosto de 2011. O rendimento médio de grãos foi de 192 g m-2, com variação de 153 a 258 g m-2 entre as diferentes cultivares, com maior rendimento da cultivar Aporé, de 258 g m-2. Foram observadas amplas diferenças entre cultivares nos componentes de produção. A produção de grãos apresentou correlação positiva e significativa com o número de vagens por planta, número de grãos por vagem e índice de colheita, sem correlação significativa com a massa de 100 grãos. Foram obtidas correlações negativas e significativas entre a massa de 100 grãos com o número de vagens por planta e número de grãos por vagem. As cultivares estudadas apresentaram bom desempenho sob o sistema orgânico de produção para a região de Seropédica-RJ

Synchrotron Emission from Hot Accretion Flows and the Cosmic Microwave Background Anisotropy

Current estimates of number counts of radio sources in the frequency range where the most sensitive Cosmic Microwave Background (CMB) experiments are carried out significantly under-represent sources with strongly inverted spectra. Hot accretion flows around supermassive black holes in the nuclei of nearby galaxies are expected to produce inverted radio spectra by thermal synchrotron emission. We calculate the temperature fluctuations and power spectra of these sources in the Planck Surveyor 30 GHz energy channel, where their emission is expected to peak. We find that their potential contribution is generally comparable to the instrumental noise, and approaches the CMB anisotropy level at small angular scales. Forthcoming CMB missions, which will provide a large statistical sample of inverted-spectra sources, will be crucial for determining the distribution of hot accretion flows in nearby quiescent galactic nuclei. Detection of these sources in different frequency channels will help constrain their spectral characteristics, hence their physical properties.Comment: 10 pages, 4 figures, accepted for publication in Ap

Seismicity and Focal Mechanisms at the Calabro-Lucanian boundary along the Apennine chain (southern Italy)

The Calabro-Lucanian boundary is a complex geological zone marking the transition between the highly seismogenic tectonic domains of Southern Apennines and the Calabrian Arc. Historical catalogues include earthquakes with macroseismic effects up to VII-VIII MCS (CPTI WORKING GROUP, 2004) and paleoseismological investigations suggested that earthquakes of magnitude between 6.5 and 7 may have occurred in this area, between the 6th and the 15th century (MICHETTI et alii, 2000). More recently, on 9 September 1998, an earthquake of moment magnitude M5.6 occurred at the north-western margin of the Pollino massif (GUERRA et alii, 2005; ARRIGO et alii, 2006) and since the second half of 2010 the same region was interested by a noteworthy seismic activity characterized by several swarms with thousands of events with a maximum magnitude of 3.6

Small Window Overlaps Are Effective Probes of Replica Symmetry Breaking in 3D Spin Glasses

We compute numerically small window overlaps in the three dimensional Edwards Anderson spin glass. We show that they behave in the way implied by the Replica Symmetry Breaking Ansatz, that they do not qualitatively differ from the full volume overlap and do not tend to a trivial function when increasing the lattice volume. On the contrary we show they are affected by small finite volume effects, and are interesting tools for the study of the features of the spin glass phase.Comment: 9 pages plus 5 figure

Desempenho de ovinos em terminação alimentados com dietas compostas por silagens com diferentes proporções de sorgo e girassol.

Objetivou-se avaliar o desempenho de ovinos em terminação alimentados com dietas compostas por silagens com diferentes proporções de sorgo e girassol. Foram usados 30 ovinos mestiços Santa Inês, machos, com peso médio de 19,51 kg, distribuídos em baias individuais (4,0 m²). Os tratamentos foram compostos por: silagem com 100% de sorgo, silagem com 25% de girassol e 75% de sorgo, silagem com 50% de girassol e 50% de sorgo, silagem com 75% de girassol e 25% de sorgo e silagem com 100% de girassol. As dietas experimentais foram constituídas por 60% de volumoso e 40% de concentrado. O delineamento experimental foi o inteiramente casualizado, com cinco tratamentos e seis repetições. Foram avaliados os consumos de matéria seca (CMS) e proteína bruta (CPB) em g/dia, ganho de peso diário (GPD em g/dia) e a conversão alimentar (CA). Foi observado efeito quadrático para os CMS e CPB. Para cada 1% de adição de girassol o GPD foi reduzido em 0,0006 kg. O GPD dos ovinos variou de 170 g/dia (100% de girassol) até 230 g/dia (0% de girassol). A CA não foi influenciada pelas dietas compostas por silagens com diferentes proporções de sorgo e girassol, registrando valor médio de 5,78±0,90. Mesmo havendo inicialmente um aumento no consumo de MS e depois uma redução, não houve limitação no desempenho dos ovinos, podendo todas as dietas serem consideradas satisfatórias, uma vez que os ganhos de peso alcançados se encontram dentro do previsto pelo NRC. Performance of feedlot lambs fed diets with silages consisted of different proportions of sorghum and sunflower. Abstract: The study aimed to evaluate the performance of feedlot lambs fed diets with silages consisted of different proportions of sorghum and sunflower. Thirty Santa Inês male lambs with an average weight of 19.51 kg, were divided into individual stalls (4.0 m2). The treatments were: silage with 100% of sorghum, silage with 25% sunflower and 75% sorghum, silage with 50% sunflower and 50% sorghum, silage with 75% sunflower and 25% sorghum, and silage with 100% sunflower. The experimental diets consisted of 60% roughage and 40% concentrate. The experimental design was a completely randomized design with five treatments and six replications. Dry matter intake (DMI) and crude protein intake (CPI) in g / day, average daily gain (ADG in g / day) and feed conversion (FC) were evaluated. A quadratic effect was observed for DMI and CPI. For each 1% addition of sunflower silage ADG was reduced by 0.0006 kg. Lambs ADG ranged from 170 g / day (100% sunflower) to 230 g / day (0% sunflower). Feed conversion was not affected by the addition of sunflower silage, registering an average value of 5.78 ± 0.90. Although there was initially an increase in DMI and then a reduction in consumption, there was no limitation on the performance of the lambs, that can be considered positive and according the gains expected by the NRC