115 research outputs found
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
SummarySclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. In most patients this causes facial paralysis and hearing loss. Other features are gigantism and hand abnormalities. In the present study, linkage analysis in two consanguineous families with sclerosteosis resulted in the assignment of the sclerosteosis gene to chromosome 17q12-q21. This region was analyzed because of the recent assignment to this chromosomal region of the gene causing van Buchem disease, a rare autosomal recessive condition with a hyperostosis similar to sclerosteosis. Because of the clinical similarities between sclerosteosis and van Buchem disease, it has previously been suggested that both conditions might be caused by mutations in the same gene. Our study now provides genetic evidence for this hypothesis
Cadastramento de doadores voluntários de Medula Óssea no REDOME
Anais do 35º Seminário de Extensão Universitária da Região Sul - Área temática: SaúdeO transplante de medula óssea consiste na substituição de uma
medula óssea doente ou deficitária por células normais, com o objetivo de
reconstituição de uma nova medula. Um fator que dificulta a realização do
procedimento é a falta de doador compatível. Assim, quanto maior o número
de novos doadores voluntários cadastrados no REDOME (Registro Brasileiro
de Doadores Voluntários de Medula Óssea), maiores são as possibilidades
de o paciente encontrar um doador compatível. Nosso projeto de extensão
tem como objetivo a conscientização da população sobre o cadastramento
de doadores voluntários de medula óssea nas regiões de Maringá, Cianorte
e Paranavaí, por meio de campanhas de captação de doadores, palestras de
conscientização e divulgação sobre a doação e o transplante de medula
óssea. O projeto vem colaborando no crescimento do REDOME com
doadores mais conscientes sobre a responsabilidade do cadastro no banco.
Assim,
nossa
equipe
deve
continuar
realizando
o
trabalho
de
conscientização da população, pois quanto maior o número de doadores,
maior é a possibilidade de se encontrar um doador compatíve
In Vitro and In Vivo Investigation of the Efficacy of Arylimidamide DB1831 and Its Mesylated Salt Form - DB1965 - against Trypanosoma cruzi Infection
Chagas disease is caused by infection with the intracellular protozoan parasite Trypanosoma cruzi. At present, nifurtimox and benznidazole, both compounds developed empirically over four decades ago, represent the chemotherapeutic arsenal for treating this highly neglected disease. However, both drugs present variable efficacy depending on the geographical area and the occurrence of natural resistance, and are poorly effective against the later chronic stage. As a part of a search for new therapeutic opportunities to treat chagasic patients, pre-clinical studies were performed to characterize the activity of a novel arylimidamide (AIA - DB1831 (hydrochloride salt) and DB1965 (mesylate salt)) against T.cruzi. These AIAs displayed a high trypanocidal effect in vitro against both relevant forms in mammalian hosts, exhibiting a high selectivity index and a very high efficacy (IC50 value/48 h of 5–40 nM) against intracellular parasites. DB1965 shows high activity in vivo in acute experimental models (mouse) of T.cruzi, showing a similar effect to benznidazole (Bz) when compared under a scheme of 10 daily consecutive doses with 12.5 mg/kg. Although no parasitological cure was observed after treating with 20 daily consecutive doses, a combined dosage of DB1965 (5 mg/kg) with Bz (50 mg/kg) resulted in parasitaemia clearance and 100% animal survival. In summary, our present data confirmed that aryimidamides represent promising new chemical entities against T.cruzi in therapeutic schemes using the AIA alone or in combination with other drugs, like benznidazole
Phytoextraction and fractionation of heavy metals in soil after multiple applications of natural chelants
The Microbiome of Brazilian Mangrove Sediments as Revealed by Metagenomics
Here we embark in a deep metagenomic survey that revealed the taxonomic and potential metabolic pathways aspects of mangrove sediment microbiology. The extraction of DNA from sediment samples and the direct application of pyrosequencing resulted in approximately 215 Mb of data from four distinct mangrove areas (BrMgv01 to 04) in Brazil. The taxonomic approaches applied revealed the dominance of Deltaproteobacteria and Gammaproteobacteria in the samples. Paired statistical analysis showed higher proportions of specific taxonomic groups in each dataset. The metabolic reconstruction indicated the possible occurrence of processes modulated by the prevailing conditions found in mangrove sediments. In terms of carbon cycling, the sequences indicated the prevalence of genes involved in the metabolism of methane, formaldehyde, and carbon dioxide. With respect to the nitrogen cycle, evidence for sequences associated with dissimilatory reduction of nitrate, nitrogen immobilization, and denitrification was detected. Sequences related to the production of adenylsulfate, sulfite, and H2S were relevant to the sulphur cycle. These data indicate that the microbial core involved in methane, nitrogen, and sulphur metabolism consists mainly of Burkholderiaceae, Planctomycetaceae, Rhodobacteraceae, and Desulfobacteraceae. Comparison of our data to datasets from soil and sea samples resulted in the allotment of the mangrove sediments between those samples. The results of this study add valuable data about the composition of microbial communities in mangroves and also shed light on possible transformations promoted by microbial organisms in mangrove sediments
Conservação de Dimorphandra mollis benth. (fabaceae) baseada na estrutura genética de populações naturais
Indicadores de estresse salino em abacaxizeiro cultivado na ausência e presença de fitorreguladores
Disponibilidade e fracionamento de Cd, Pb, Cu e Zn em função do pH e tempo de incubação com o solo
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