WHIM syndrome is an inherited immune disorder caused by an autosomal dominant heterozygous mutation in CXCR4. The disease is characterized by neutropenia/leukopenia (secondary to retention of mature neutrophils in bone marrow), recurrent bacterial infections, treatment-refractory warts, and hypogammaglobulinemia. All mutations reported in WHIM patients lead to the truncations in the C-terminal domain of CXCR4, R334X being the most frequent. This defect prevents receptor internalization and enhances both calcium mobilization and ERK phosphorylation, resulting in increased chemotaxis in response to the unique ligand CXCL12. Here, we describe 3 patients presenting neutropenia and myelokathexis, but normal lymphocyte count and immunoglobulin levels, carrying what we believe to be a novel Leu317fsX3 mutation in CXCR4, leading to a complete truncation of its intracellular tail. The analysis of the L317fsX3 mutation in cells derived from patients and in vitro cellular models reveals unique signaling features in comparison with R334X mutation. The L317fsX3 mutation impairs CXCR4 downregulation and β-arrestin recruitment in response to CXCL12 and reduces other signaling events -including ERK1/2 phosphorylation, calcium mobilization, and chemotaxis -all processes that are typically enhanced in cells carrying the R334X mutation. Our findings suggest that, overall, the L317fsX3 mutation may be causative of a form of WHIM syndrome not associated with an augmented CXCR4 response to CXCL12.
Redes De Sensores Sem Fio (RSSF) são utilizadas em diversos contextos, que podem incluir monitoração de aspectos climáticos em uma região remota, atuadores para eventos geográficos, espaciais e etc. Diante do cenário de limitação de RSSF foi desenvolvido um modelo genérico de Elemento Sensor Autonômico (ESA) que busca utilizar de maneira mais equilibrada os recursos computacionais de um nó sensor, com conceitos de computação autonômica que tornam a rede auto-configurável. Neste trabalho, desenvolvemos instâncias baseadas no modelo genérico para melhorar o desempenho da rede. Implementamos algoritmos de análise e planejamento, e avaliamos seus comportamentos em experimentos executados em redes de sensores reais. Os resultados mostram que as implementações mantém ou melhoram aspectos importantes como o número de mensagens enviadas, a autoconfiguração e a sensibilidade da aplicação.
Abstract. This study aims to evaluate the effect of phonological awareness training program in preschool performance of 256 children in Funchal, Portugal.
RESUMO. Esta pesquisa teve por objetivo determinar os melhores níveis dietários de vitamina E e de selênio para pós-larvas do camarão amazônico, Macrobrachium amazonicum (Crustacea). Nesse sentido, pós-larvas com peso médio de 280mg e comprimento médio de 20,60mm foram mantidas em 28 aquários de 12L dotados de sistema de recirculação de água e de controle automático de temperatura, submetidas à esquema fatorial 3x2, em um delineamento inteiramente casualizado, com 1 tratamento adicional, totalizando 4 repetições por tratamento. As pós-larvas foram alimentadas com rações purificadas à base de albumina e de gelatina, contendo 3 níveis de vitamina E (100mg/kg, 200mg/kg e 400,00mg/kg), 2 níveis de selênio (0,50mg/kg e 1mg/kg) e 1 tratamento adicional (sem suplementação de selênio e de vitamina E). Após 30 dias, avaliou-se o ganho de peso, a conversão alimentar aparente, a taxa de sobrevivência e a concentração de selênio no filé. Observou-se que: 200mg de vitamina E/kg e 0,50mg de selênio/kg proporcionam melhores respostas de ganho de peso e de conversão alimentar aparente; 100mg de vitamina E/kg e 0,50mg de selênio/kg proporcionam melhor taxa de sobrevivência e, 200mg de vitamina E/kg e 1mg de selênio/kg proporcionam maior concentração de selênio no filé. Com base nesses resultados, recomenda-se 200mg de vitamina E/kg e 0,50mg de selênio/kg de ração, na alimentação de pós-larvas de camarão amazônico, de modo a proporcionar melhores resultados quanto ao desempenho produtivo.Palavras-chave: camarão amazônico, antioxidantes, vitamina, mineral, dieta purificada, desempenho.ABSTRACT. Dietary level of vitamin E and selenium on diets for post larvae of Macrobrachium amazonicum. The objective of this study was to determine the best dietary level of vitamin E and selenium on diets for Amazon prawn, Macrobrachium amazonicum (Crustacea). Thus, post-larvae of 280mg average weight and 20.60mm average length were kept in 28 aquaria (12.00L) supplied with water. They were maintained in automatic control of temperature, in a completely randomized factorial experiment 3x2 design, plus an additional treatment, with four replications each treatment. The post-larvae were fed with purified diets supplemented with three vitamin E levels (100.00; 200.00 and 400.00mg/kg), two levels of selenium (0.50 and 1.00mg/kg) and an additional treatment (without vitamin E and selenium supplementation). After 30 days, the weight gain, apparent feed conversion, survival rate and muscle selenium concentration were evaluated. results indicated that diets supplemented with 200.00mg of vitamin E/kg and 0.50 selenium/kg provided the best weight gain and apparent feed conversion; 100.00mg of vitamin E/kg and 0.50mg of selenium/kg supplementation provided the best survival rate; and diets supplemented with 200.00mg of vitamin E/kg and 1.00mg of selenium/kg determined the highest muscle selenium concentration. The results indicated that diets supplemented with 200.00mg of vitamin E/kg and 0.50 selenium/kg can be recommended in diets to post larvae of Amazon pr...
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