8 research outputs found

    Perfil característico das atividades 17-hidroxilase e 17,20-liase reveladas por meio do metaboloma de esteroides urinários de pacientes com deficiência de CYP17

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    OBJECTIVES: (1) Characterize serum (S) and urinary (U) steroid metabolites in complete CYP17 deficiency (cCYP17D); (2) analyze the relative 17α-hydroxylase (17OH) and 17,20-lyase (17,20L) activities in vivo; and (3) comparedata from the two most prevalent mutations in Brazil. SUBJECTS AND METHODS: 20 genotyped cCYP17D patients from a previously reported cohort were homozygous for W406R or R362C; 11 controls were CYP17 wild types (WT). WT and cCYP17D patients had S and U samples drawn to measure: cortisol (F), corticosterone (B), deoxycorticosterone (DOC), 18OH-B, 18OH-DOC, and 17OHP; and tetrahydro (TH)-B, THA, THDOC, THF+5α-THF, TH-cortisone, androsterone, etiocholanolone, 5-pregnenediol, 17OH-pregnenolone and pregnanetriol. RESULTS: Compared to WT, cCYP17D patients had marked elevations of B, DOC, 18OH-B and 18OH-DOC, whereas 17OHP, F and adrenal androgens (AA) were reduced; U steroids parallel S findings. Metabolite ratios revealed that both 17OH and 17,20L activities were impaired in cCYP17D. There were nodifferences between W406R andR362C mutations. CONCLUSIONS: cCYP17D patients show parallel overproduction/overexcretion of 17-deoxysteroids, and marked reduction of F and AA. In addition to 17OH, 17,20-L activity was also impaired in cCYP17D. W406 and R362C mutations disclose similar Sand U patterns.OBJETIVOS: (1) Caracterizar os esteroides séricos (S) e urinários (U) na deficiência completa da CYP17 (DcCYP17); (2) analisar as atividades da 17α-hidroxilase (17OH) e 17,20-liase (17, 20 L) in vivo; e (3) comparar as duas mutações mais prevalentes no Brasil. SUJEITOS E MÉTODOS: 20 pacientes genotipados para a DcCYP17, de uma coorte anterior, eram homozigotos para W406R ou R362C (8 cada); 11 controles eram CYP17 wild types (WT). Amostras de S e U foram colhidas dos WT e pacientes para dosagem de: cortisol (F), corticosterona (B), deoxicorticosterona (DOC), 18-OH-B, 18OH-DOC e 17OHP; e tetraidro(TH)-B, THA, TH-DOC, THF+5α-THF, THE, androsterona, etiocolanolona, 5-pregnenediol, 17OH-pregnenolona e pregnanetriol. RESULTADOS: Comparados aos WT, os pacientes com DcCYP17 revelaram elevações acentuadas de B, DOC, 18OHB e 18OHDOC, enquanto 17OHP, F e andrógenos adrenais (AA) estavam reduzidos. Os esteroides na U acompanham os achados no S. As relações de metabólitos mostraram que as atividades de 17OH e 17,20L estavam reduzidas em pacientes com DcCYP17. Não houve diferenças entre pacientes com as mutações W406R e R362C. CONCLUSÕES: Na DcCYP17, a produção e a excreção dos 17-deoxiesteroides estão aumentadas em paralelo, em contraste com a reduzida produção/excreção de F e AA. As atividades da 17OH e 17,20-L estão diminuídas na DcCYP17. As mutações W406 e R362C apresentam achados semelhantes em S e U.Universidade Federal de São Paulo (UNIFESP) Department of Medicine Division of Endocrinology and MetabolismUniversity of Texas Southwestern Medical Center Department of Clinical SciencesUniversity of Birmingham Division of Medical SciencesUNIFESP, Department of Medicine Division of Endocrinology and MetabolismSciEL

    Macro-scale (biomes) differences in neotropical stream processes and community structure

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    The definition of conservation strategies and ecological assessment schemes requires understanding ecosystem patterns over multiple spatial scales. This study aimed to determine if macro-scale structural and functional (processes) patterns associated with stream ecosystems differed among three neotropical biomes (Cerrado, Amazon, Atlantic Forest). We compared the aquatic communities (benthic invertebrates and hyphomycetes) and processes (decomposition rates, primary production and biofilms growth and aquatic hyphomycetes reproduction rates-sporulation) of Cerrado stream sites (neotropical savannah) against those of stream sites in the connecting biomes of the Atlantic Forest and Amazon (rainforests). We expected that, contrary to the biome dependency hypothesis the community structure and processes rates of streams at the biome-scale would not differ significantly, because those ecosystems are strongly influenced by their dense riparian forests, which have a transitional character among the three biomes. Fifty-three stream sites were selected covering a wide range of geographic locations (Table 1), from near the Equator (2° S) in the Amazon, to intermediate latitudes in the Cerrado (12-19° S), and latitudes closer to the tropic of Capricorn in the Atlantic Forest (19º-25° S). We found that: 1) at the abiotic level, the aquatic ecosystems of the three biomes differed, which was mostly explained by large-scale factors such as temperature, precipitation and altitude; 2) functional and structural variables did not behave similarly among biomes: decomposition and sporulation rates showed larger differences among biomes than invertebrate and aquatic hyphomycete assemblages structure; 3) invertebrate assemblages structure differed between the rainforests and Cerrado but not between rainforests (Amazon and Atlantic Forest) whereas aquatic hyphomycetes were similar among all biomes; 4) biofilm growth and algae concentration in biofilms of artificial substrates were highly variable within biomes and not significantly different between biomes. Overall, aquatic ecosystem processes and community structure differed across biomes, being influenced by climatic variables, but the variation is not as pronounced as that described for terrestrial systems. Considering the potential use of these functional and structural indicators in national-wide ecological assessments, our results indicate the need to define different reference values for different biomes, depending on the variable used. The approach followed in this study allowed an integrative analysis and comparison of the stream ecosystems across three tropical biomes, being the first study of this kind. Future studies should try to confirm the patterns evidenced here with more sites from other areas of the three biomes, and especially from the Amazon, which was the least represented biome in our investigation. © 201

    Rendimento, composição tecidual e musculosidade da carcaça de cordeiros Santa Inês alimentados com diferentes níveis de feno de flor-de-seda na dieta Yield, tissue composition and carcass muscularity of Santa Inês lambs fed diets with different ratios of forage sorghum hay to silk flower hay

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    Foi avaliada a inclusão de níveis crescentes de feno de flor-de-seda (Calotropis procera SW) (FFS) em substituição ao feno de sorgo forrageiro (Sorghum bicolor, L.) (FSF) na dieta e seus possíveis efeitos sobre os rendimentos verdadeiro, biológico e comercial, a perda ao resfriamento, o rendimento dos cortes, a composição tecidual e a musculosidade da carcaça de cordeiros Santa Inês. Foram utilizados 24 cordeiros (machos não-castrados) distribuídos em um delineamento inteiramente casualisado, com quatro tratamentos (relações FSF:FFS: 100:0, 66:33, 33:66 e 0:100). Os animais foram abatidos com 30,0 (±0,4) kg ou aos 70 dias de experimento. Não houve efeito das relações FSF:FFS na dieta sobre os rendimentos biológico, verdadeiro e comercial, sendo obtidos valores médios de 53,17; 45,97 e 44,34%, respectivamente. Foram observadas diferenças significativas no peso vivo ao abate, no peso de corpo vazio, nos pesos de carcaça quente e de carcaça fria, no rendimento dos cortes, na composição tecidual e na musculosidade da carcaça. À exceção dos cortes paleta e perna, as variáveis apresentaram valores mais elevados quando fornecidos os menores níveis de FFS na dieta. O feno de flor-de-seda pode ser utilizado na alimentação de cordeiros para produção de carne em proporções de até 16,5% da dieta (33% da fração volumosa), pois não ocasiona prejuízo à qualidade da carcaça.<br>This study evaluated the effects of different dietary ratios of forage sorghum (Sorghum bicolor L) hay (FSH) to silk flower hay (Calotropis procera SW) (SFH) on true, biological, and retail carcass yields, carcass cooling losses, retail cut yields, tissue composition and carcass muscularity of Santa Inês lambs. Twenty-four intact male lambs were assigned to one of the following four treatments: 100:0 FSH:SFH, 66:33 FSH:SFH , 33:66 FSH:SFH, or 0:100 FSH:SFH in a completely randomized design (six animals/treatment). Animals were slaughtered at 30.0±0.4 kg of body weight or at 70 days of experiment. There was no effect of treatments on the biological, true, and retail carcass yields, which averaged, respectively 53.17, 45.97%, and 44.34%. Except for shoulder clod and leg cuts, increasing the dietary levels of SFH significantly reduced the slaughter body weight, empty body weight, hot and cold carcass weights, retail cut yields, tissue composition, and carcass muscularity. It can be concluded that the inclusion of up to 16.5% of the diet DM (33% of the dietary forage) as SFH had no detrimental effect on carcass quality

    Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism.

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    Steroid biosynthesis and metabolism are reflected by the serum steroid metabolome and, in even more detail, by the 24-hour urine steroid metabolome, which can provide unique insights into alterations of steroid flow and output indicative of underlying conditions. Mass spectrometry-based steroid metabolome profiling has allowed for the identification of unique multisteroid signatures associated with disorders of steroid biosynthesis and metabolism that can be used for personalized approaches to diagnosis, differential diagnosis, and prognostic prediction. Additionally, steroid metabolome analysis has been used successfully as a discovery tool, for the identification of novel steroidogenic disorders and pathways as well as revealing insights into the pathophysiology of adrenal disease. Increased availability and technological advances in mass spectrometry-based methodologies have refocused attention on steroid metabolome profiling and facilitated the development of high-throughput steroid profiling methods soon to reach clinical practice. Furthermore, steroid metabolomics, the combination of mass spectrometry-based steroid analysis with machine learning-based approaches, has facilitated the development of powerful customized diagnostic approaches. In this review, we provide a comprehensive up-to-date overview of the utility of steroid metabolome analysis for the diagnosis and management of inborn disorders of steroidogenesis and autonomous adrenal steroid excess in the context of adrenal tumors

    Global patterns and drivers of ecosystem functioning in rivers and riparian zones

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    Abstract River ecosystems receive and process vast quantities of terrestrial organic carbon, the fate of which depends strongly on microbial activity. Variation in and controls of processing rates, however, are poorly characterized at the global scale. In response, we used a peer-sourced research network and a highly standardized carbon processing assay to conduct a global-scale field experiment in greater than 1000 river and riparian sites. We found that Earth’s biomes have distinct carbon processing signatures. Slow processing is evident across latitudes, whereas rapid rates are restricted to lower latitudes. Both the mean rate and variability decline with latitude, suggesting temperature constraints toward the poles and greater roles for other environmental drivers (e.g., nutrient loading) toward the equator. These results and data set the stage for unprecedented “next-generation biomonitoring” by establishing baselines to help quantify environmental impacts to the functioning of ecosystems at a global scale
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