4,337 research outputs found

    Níveis de estresse e engagement laboral dos assistentes sociais em Portugal

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    O presente artigo pretendeu conhecer os níveis de stresse e engagement laboral que os assistentes sociais, em Portugal, estavam expostos. Para tal, aplicou-se um inquérito por questionário, composto pela Perceived Stress Scale e a Utrecht Work Engagement Scale, a 1369 profissionais. Os resultados identificaram um nível mediano de stresse e engagement, o que pode ser indicativo de níveis de bem-estar laboral satisfatórios. Observou-se, ainda, que à medida que o stresse percecionado aumentava, diminuía o engagement destes profissionais. Foram, também, encontradas conexões significativas entre estas variáveis e o vencimento auferido.info:eu-repo/semantics/publishedVersio

    Interstitial deletion 15q21 and Prader-Willi like syndrome phenotype: Case report

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    Introduction: Chromosome 15q interstitial deletions not involving the Prader-Willi/Angelman region are uncommon and poorly characterized. Very few cases of different segmental losses involving the 15q21 region have been reported at cytogenetic level. All the described patients present with moderate to several mental retardation and characteristic facial dysmorphic features. Some authors compare the similarity between the phenotype of these patients with some features of Prader-Willi syndrome (PWS). Methods: We report the case of a girl aged 8 referred for conventional cytogenetics and fluorescence in situ hybridization (FISH) for the PWS region, presenting with mental retardation, almond-shaped eyes, obesity, small hands with short fingers and diminished pigmentation of the hair. Results: The chromosomal analysis revealed an interstitial deletion of the long arm of chromosome 15, apparently between 15q21 and 15q22. Deletion at 15q11.2 (Prader-Willi/Angelman critical region) was excluded by FISH. To establish the exact breakpoints molecular studies were performed using bacterial artificial chromosome (BAC) clones spanning the 15q21.3 region. The absence of signal in this region defines the proband’s final karyotype as: 46,XX,del(15)(q21.3q21.3).ish del(15)(q21.3q21.3)(bA74K1-) Discussion: The authors emphasize the importance of complementary FISH and molecular studies in chromosomal abnormalities and compare the proband’s phenotype with similar cases described in the literature

    Homogeneous Gold Catalysis through Relativistic Effects: Addition of Water to Propyne

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    In the catalytic addition of water to propyne the Au(III) catalyst is not stable under non-relativistic conditions and dissociates into a Au(I) compound and Cl2. This implies that one link in the chain of events in the catalytic cycle is broken and relativity may well be seen as the reason why Au(III) compounds are effective catalysts.Comment: 12 pages, 3 figures, 1 tabl

    Diagnóstico Citogenético em Líquidos Amnióticos Realizado entre 2000-2011 no Centro de Genética Médica Jacinto Magalhães, INSA, IP

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    Introdução: O diagnóstico pré-natal citogenético efetuado em líquido amniótico é um método seguro e fiável para deteção de anomalias cromossómicas fetais, sendo habitualmente realizado a partir das 15 semanas de gestação. Obtêm-se resultados, em média, após 8-10 dias de cultura dos amniócitos. Objectivo: Apresentar a estatística dos resultados obtidos na análise citogenética de líquidos amnióticos realizada na Unidade de Citogenética do Centro de Genética Médica Jacinto Magalhães entre 2000 e 2011, comparando-os com o descrito na literatura. Material e métodos: Entre janeiro de 2000 e dezembro de 2011 foram processados 10149 líquidos amnióticos. Os motivos para a realização da amniocentese foram, nomeadamente, idade materna avançada, anomalias ecográficas, marcadores ecográficos, rastreio bioquímico positivo, familiares com anomalias cromossómicas e risco de doença monogénica. Foram realizadas culturas de amniócitos de acordo com as técnicas convencionais de citogenética e os cromossomas identificados com bandas GTG ou GTL. Sempre que necessário efetuaram-se estudos de citogenética molecular (FISH) com as sondas adequadas ao esclarecimento do caso. Resultados: A análise revelou 342 cariótipos anormais (3,4%) dos quais 234 tinham anomalias numéricas e 108 estruturais. Os Síndromes de Down, de Edwards e de Turner foram as anomalias mais frequentes. Vinte e três culturas não cresceram, representando uma percentagem de 0,2% de insucesso. Conclusões: Os autores correlacionam os resultados obtidos com as indicações clínicas fornecidas e comparam-nas com o descrito na literatura. O presente estudo poderá ser utilizado para o estabelecimento de uma base de dados a nível nacional

    Características qualitativas da carcaça de cordeiros terminados em pastagem nativa da Caatinga, submetidos a diferentes suplementações de sal mineral.

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    Resumo: Objetivou-se determinar as características qualitativas da carcaça de cordeiros terminados em pastagem nativa da caatinga submetidos a diferentes suplementações de sal mineral. Foram utilizados 24 ovinos em terminação mestiços Santa Inês, distribuídos em um delineamento inteiramente casualizado, em três tratamentos, conforme as seguintes suplementações de sal mineral: sal mineral comercial (SALMINC), sal mineral comercial acrescido de 750 ppm de zinco animal-1 (SALMINCZn) e sal comercial com fornecimento de 2,5 ml por peso vivo metabólico (PV)0,75 animal-1 de propilenoglicol (SALMINCPeg), com oito repetições cada. Foram avaliadas as caracteristicas cor, área de olho de lombo/gabarito (cm2), área de olho de lombo/fórmula (cm2), espessura de gordura (mm), marmoreio da gordura (1-5), distribuição do marmoreio da gordura (1-3), textura da carne (1-5), textura da gordura (1-5). A única variável que diferiu entre os tratamentos avaliados foi a espessura de gordura (P<0,05). Os cordeiros que foram suplementados com sal mineral acrescido de 750 ppm de zinco apresentaram maior espessura de gordura. O uso de sal mineral com adição de Zinco influenciou na obtenção de uma maior espessura de gordura na carcaça de ovinos. [Qualitative carcass characteristics of lambs finished in native pasture of the Caatinga submitted to differents supplementations of mineral salt]. Abstract: The aim was to determine the qualitative characteristics of the carcass of lambs finished on native pasture of the Caatinga submitted to differents mineral salt supplementations. Were used 24 crossbred sheep Santa Ines in termination, distributed in a completely randomized design, with three treatments, according to the following supplements of mineral salt: commercial mineral salt (SALMINC), commercial mineral salt plus 750 ppm of zinc per animal-1 (SALMINCZn) and commercial mineral salt supply with 2.5 ml of propylene glycol per metabolic body weight (BW)0.75 animal-1 (SALMINCPeg), with eight replicates each. Were evaluated the characteristics of color, rib eye area/feedblack (cm2), rib eye area /formula (cm2), fat thickness (mm), marbling fat (1-5), distribution of marbling fat were evaluated (1-3), texture of meat (1-5), texture of fat (1-5). The only variable that differed among the treatments was the fat thickness (P <0.05). The lambs were supplemented with mineral salt plus zinc had greater fat thickness. The use of mineral salt added with zinc had influenced in getting of higher thickness carcass fat of sheep

    Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

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    The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases (LSD), the impact of lysosomal engorgement in human lipid antigen presentation is poorly characterized. Here, we analyzed the capacity of monocyte-derived dendritic cells (Mo-DCs) from Fabry, Gaucher, Niemann Pick type C and Mucopolysaccharidosis type VI disease patients to present exogenous antigens to lipid-specific T cells. The CD1b- and CD1d-restricted presentation of lipid antigens by Mo-DCs revealed an ability of LSD patients to induce CD1-restricted T cell responses within the control range. Similarly, freshly isolated monocytes from Fabry and Gaucher disease patients had a normal ability to present α-Galactosylceramide (α-GalCer) antigen by CD1d. Gaucher disease patients' monocytes had an increased capacity to present α-Gal-(1-2)-αGalCer, an antigen that needs internalization and processing to become antigenic. In summary, our results show that Fabry, Gaucher, Niemann Pick type C, and Mucopolysaccharidosis type VI disease patients do not present a decreased capacity to present CD1d-restricted lipid antigens. These observations are in contrast to what was observed in mouse models of LSD. The percentage of total iNKT cells in the peripheral blood of these patients is also similar to control individuals. In addition, we show that the presentation of exogenous lipids that directly bind CD1b, the human CD1 isoform with an intracellular trafficking to the lysosome, is normal in these patients.This work was financed by Gaucher Generation Program, supported by Sanofi-Genzyme and by Norte-01-0145-FEDER-000012—Structured program on bioengineered therapies for infectious diseases and tissue regeneration, supported by the Norte Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (FEDER). BP-C was temporally supported by a grant from the American Portuguese Biomedical Research Fund (APBRF).info:eu-repo/semantics/publishedVersio
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