Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis

A história do lobinho saudável com a matemática

Sabendo da importância do desenvolvimento de uma alimentação saudável para as crianças da educação infantil e a relação da brincadeira como forma de desenvolvimento cognitivo, o presente trabalho associou o conhecimento matemático à literatura. Objetivou-se, neste trabalho, desenvolver habilidades na resolução de problemas matemáticos a partir da interpretação da história “O Lobinho Saudável” (BEDFORD, 2013). A Matemática foi parte do aprendizado e esteve presente em diversas atividades realizadas pelas crianças da turma do Jardim, do Centro de educação infantil Ruth Schroeder Ohf, tais como: brincadeiras e jogos, dominó, memória, roleta, bingo, entre outros. De modo que, por meio das atividades desenvolvidas, possibilitou-se o desenvolvimento do raciocínio lógico, como também o estímulo à criatividade e à capacidade das crianças para a resolução de problemas

Estimativa das Trocas Líquidas de co2 para Diferentes Coberturas de Solo em um Agroecossitema na Região Oeste do Pará, km77, em Santarém, PA

Estimativa das trocas líquidas de CO2 para diferentescoberturas de solo em um agroecossitema na região oestedo Pará, km77, em Santarém, P

Novel antiproliferative chimeric compounds with marked histone deacetylase inhibitory activity

Given our interest in finding potential antitumor agents and in view of the multifactorial mechanistic nature of cancer, in the present work, taking advantage of the multifunctional ligands approach, new chimeric molecules were designed and synthesized by combining in single chemical entities structural features of SAHA, targeting histone deacetylases (HDACs), with substituted stilbene or terphenyl derivatives previously obtained by us and endowed with antiproliferative and pro-apoptotic activity. The new chimeric derivatives were characterized with respect to their cytotoxic activity and their effects on cell cycle progression on different tumor cell lines, as well as their HDACs inhibition. Among the other, trans -6 showed the most interesting biological profile, as it exhibited a strong pro-apoptotic activity in tumor cell lines in comparison with both of its parent compounds and a marked HDAC inhibition

Influência da radiação de onda longa incidente no fechamento do balanço de radiação no modelo SIB2: Estimativas para pastagem no bioma Pampa

The balance of radiation represents the energy gains and losses on the surface, and can be estimated by summing the four components of surface radiation (incident and reflected solar radiation, radiation emitted by the surface and emitted by the atmosphere). The SiB2 model represents ecosystems and provides estimates of surface energy changes. In this work, five different incident long wave estimation equations were tested to verify the influence of this component on the closure of the radiation balance for the SiB2 model. The results show the underestimation of the radiation balance of the SiB2 model when compared to the experimental data. Thus, it is inferred the need for calibration of incident long-wave radiation equations for use in models for local simulations.O saldo de radiação representa os ganhos e perdas de energia na superfície, podendo ser estimado através da soma das quatro componentes da radiação em superfície (radiação solar incidente e refletida, radiação emitida pela superfície e emitida pela atmosfera). O modelo SiB2 representa ecossistemas e fornece estimativas das trocas de energia em superfície. Neste trabalho, foi testado cinco diferentes equações de estimativa de onda longa incidente para verificar a influência desta componente no fechamento do balanço de radiação para o modelo SiB2. Os resultados obtidos mostram a subestimativa no saldo de radiação do modelo SiB2 quando comparado aos dados experimentais. Deste modo, infere-se a necessidade de calibração das equações de radiação de onda longa incidente para a utilização nos modelos para simulações locais

Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation

Since the identification of the Cystic Fibrosis transmembrane conductance regulator (CFTR) gene in 1989, many genetic mutations have been found in cystic fibrosis (CF) patients. Dysfunctions of the CFTR gene are responsible for the highly variable clinical presentation ranging from severe CF, disseminated bronchiectasis, idiopathic chronic pancreatitis and congenital bilateral absence of vas deferens (CBAVD). Linkage disequilibrium studies have shown that some mutations are stringently coupled with polymorphisms in a genetic complex called haplotype. From a familial study of a patient with CBAVD, carrier of the A1006E mutation, we have observed its strict association with the polymorphism 5T-TG11. In order to speed up the genetic diagnosis and to correlate the clinical setting to this genetic feature, we have directly investigated the exon 17a, where the A1006E mutation is located, of five cystic fibrosis patients belonging to two unrelated families. All patients had the 5T-TG11 tract, F508del and one unknown mutation. One more family with two affected individuals carrying the Q220X/A1006E mutations was investigated for the poly-T polymorphism. All the members were found to have the A1006E mutation and the 5T-TG11 in the same DNA strand, demonstrating that this strategy is a reliable and inexpensive method for genotyping the CFTR gene. A detailed description of the clinical presentation and follow-up are provided in order to highlight common phenotypic features useful to improve the management of cystic fibrosis patients