RESUMO

In order to evaluate contamination by polychlorinated biphenyls (PCBs) in a tropical bay exposed to different anthropogenic pressures, samples of bivalves: mangrove oyster (Crassotrea rhizophorae), mangrove mussel (Mytella guyanensis)and clams (Anomalocardia brasiliana), were collected in different parts of Todos os Santos Bay, Bahia, Brazil. In addition, samples of bivalves and fish, purchased from a seafood market in the city of Salvador were analyzed to evaluate human exposure to PCBs through ingestion. Identification and quantification of PCBs were done by GC/MS after microwave extraction and purification with sulfuric acid. In bivalves, concentrations ranged from <0.08 to 50.1 ng g -1 (dry weight), with the highest values being detected in mangrove oyster, followed by clams and mangrove mussel of the Subaé estuary and Madre de Deus/Mataripe; regions known to be impacted by anthropic activities. From the total of the 12 fish species analyzed, only 5 presented levels of PCBs above the detection limit, ranging from 0.23 to 4.55 ng g -1 and 0.51 to 26.05 ng g -1 by dry weight and lipid weight, respectively. In general, concentrations of PCBs on the bay are lower than in most regions around the world, especially those located in the Northern Hemisphere. Indexes indicated that local biota and seafood from the fish market are not adversely impacted by PCBs and do not represent a risk to human health.

Assuntos

RESUMO

Objetivo: identificar as fragilidades e potencialidades vivenciadas pelos cuidadores na prática assistencial dos serviços de residência terapêutica. Método: pesquisa qualitativa realizada por meio de entrevista semiestruturada, com 12 cuidadores dos de seis Serviços de Residências Terapêuticas do Oeste Paulista, cujos dados foram tratados por análise de conteúdo de Bardin. Resultados: emergiram duas categorias, fragilidades na prática de ser cuidador em serviço de residência terapêutica: superando limites e as potencialidades na prática de ser cuidador em serviço de residência terapêutica: uma conquista nas relações interpessoais. Considerações finais: os cuidadores têm dificuldades em promover atividades a fim de ressocializar às pessoas com transtorno mental, decorrente da sobrecarga de trabalho com as atividades domésticas da residência e o vínculo com o morador é um facilitador na assistência aos mesmos.

Objective: to identify the weaknesses and potentialities experienced by caregivers in the care practice of therapeutic residency services. Method: qualitative research carried out through a semi-structured interview with 12 caregivers of the six Residual Therapy Services from the west of São Paulo, whose data were treated by Bardin 's content analysis. Results: two categories emerged, weaknesses in the practice of being a caregiver in a therapeutic residency service: surpassing limits and the potentialities in the practice of being a caregiver in a therapeutic residency service: an achievement in interpersonal relationships. Final considerations: caregivers have difficulties in promoting activities in order to re-socialize people with mental disorders, due to the overload of work with the domestic activities of the residence and the bond with the resident is a facilitator in the care of them.

Assuntos

RESUMO

In order to test the relationship between the occurrence of marine debris and the distance from urban areas, nine beaches in the metropolitan area of Salvador, Bahia, Brazil and the adjacent northern coast were studied. Marine debris were collected, sorted in several categories and weighed. It was observed that plastics were numerically the most abundant component of the collected debris. As expected, the beaches closest to Salvador presented the largest density of debris, with the exception of the Porto da Barra beach, which has an efficient public cleaning system and does not have any vegetation, making it difficult to accumulate solid waste. Linear regression analyses showed significant relationships between the distance from the urban center (Salvador) and the number of marine debris per m(2), the total number of debris per beach (abundance), and the diversity of debris types (richness). The results showed that proximity to urban regions was a key factor in the marine debris distribution along the coast.

Assuntos

RESUMO

Corynebacterium spp. are a group of Gram-positive bacteria that includes plant and animal pathogens, nonpathogenic soil bacteria, and saprophytic species. Our understanding of these organisms is still poor compared with that of other bacterial organisms, but new insights offered by genome sequence data and the elucidation of gene content has provided clues about the nature, genome stability, pathogenicity and virulence of these organisms. We compared 15 Corynebacterium genomes, from pathogenic and nonpathogenic species, focusing on DNA repair genes. DNA repair is a mechanism of great importance in the maintenance of the genomic stability of any organism; inefficiency of this system can promote genomic instability and lead to death. This vulnerability makes it an interesting target in the study of means to control infectious organisms. We found that nucleotide excision repair (NER) was the only pathway whose involved genes were found in all species, suggesting that DNA integrity can be primarily maintained by NER. Recombination repair (RR) is also a well conserved pathway and most RR genes exist commonly in Corynebacterium spp. Absence of recCD genes was also shared by all species, contributing to prevent genome inversions and favoring genomic stability. Mismatch repair (MMR) appeared to be missing, although some genes in this pathway, such mutT, mutY and mutL, are present. Base excision repair (BER) and direct repair pathways are not conserved pathways, since the genes are not shared by all members; however, the existence of some seems to be enough to ensure pathway activity. An interesting fact is the persistence/acquisition of some repair genes in some species, suggesting an important role in DNA maintenance and evolution. These genes can be important targets in the investigation of the role of DNA repair in the pathogenicity of Corynebacterium species and be used as targets in therapeutic intervention. Phylogenetic analysis of uvrABC NER genes showed a pattern of clusters, in which most groups remained fixed. In general, the presence or inexistence of repair genes was shared by all the species we analyzed, and the loss or acquisition of certain DNA repair genes seems to have been an ancestral event.

Assuntos

RESUMO

Phenylalanine hydroxylase deficiency is a trait inherited in an autosomal recessive pattern; the associated phenotype varies considerably. This variation is mainly due to the considerable allelic heterogeneity in the phenylalanine hydroxylase enzyme locus. We examined the genotype-phenotype correlation in 54 phenylketonuria (PKU) patients from Minas Gerais, Brazil. Two systems were used. The first was a phenotype prediction system based on arbitrary values (AV) attributed to each mutation and the second was a correlation analysis. An AV was assigned to each mutation: AV = 1 for classical PKU mutation; AV = 2 for moderate PKU mutation; AV = 4 for mild PKU mutation, and AV = 8 for non-PKU hyperphenylalaninemia mutation. The observed phenotype for AV analysis was the clinical diagnosis established by the overloading phenylalanine test. Among the 51 PKU patients that we analyzed based on this trait, in 51% the predicted phenotype did not match the observed phenotype; the highest degree of concordance was found in patients with null/null genotypes. The genotype was observed to be a good predictor of the clinical course of the patients and significant correlations were found between phenylalanine values at first interview and predicted residual activity, genotype and arbitrary value sum.

Assuntos

RESUMO

This work was undertaken in order to ascertain the PKU mutational spectrum in Minas Gerais, Brazil, the relative frequency of the mutations in the State and the origin of these mutations by haplotype determination. Minas Gerais is a trihybrid population formed by miscegenation from Europeans, Africans and Amerindians. All 13 exons of the PAH gene from 78 PKU patients were analyzed, including splicing sites and the promoter region. We identified 30 different mutations and 98% of the PAH alleles were established. A new mutation (Q267X) was identified as well. The most common mutations found were V388M (21.2), R261Q (16.0%), IVS10-11G>A (15.3%), I65T (5.8%), IVS2+5G>C (5.8%), R252W (5.1%), IVS2+5G>A (4.5%), P281L (3.8%) and L348V (3.2%). These nine mutations correspond to 80% of the PKU alleles in the state. Haplotypes were determined to characterize the origin of the PAH alleles. The majority of the mutations found, with respective haplotypes, are frequent in the Iberian Peninsula. However, there were some mutations that are rare in Europe and four previously unreported mutation-haplotype associations. I65T and Q267X were found in association with haplotype 38 and may be African in origin or the result of miscegenation in the Brazilian population.

Assuntos

RESUMO

BACKGROUND: Mucocele is a lesion that involves the salivary glands and respective current ducts caused mainly by traumas in the affected area. Two different histological forms can be found: extravasation phenomenon and mucus-retention cyst where the former is the most frequently observed involving minor salivary glands such as the glands present in the anterior portion of the ventral surface of the tongue (glands of Blandin-Nuhn). CASE REPORT: This report describes a large lesion involving the ventral surface of the tongue that was definitively diagnosed by histological examination as extravasation mucocele. CONCLUSION: Important concepts are reviewed to help clinicians correctly diagnose and treat this pathology.

Assuntos

RESUMO

Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can be prevented. Hence, diagnosis and treatment must be established early. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids. However, it is difficult to adhere to this diet. In the last decade, a better comprehension of the biochemistry, genetics and molecular basis of the disease, as well as the need for easier treatment, led to the development of several new therapeutic strategies for PKU. In the present study, we evaluated these new therapeutic options in terms of theoretical basis, methodologies, efficacy, and costs.

Assuntos

RESUMO

In order to determine the phenylketonuria (PKU) mutation spectrum in the population of Minas Gerais State, Brazil, 78 unrelated PKU patients found by the neonatal screening program from 1993 to 2003 were tested for nine phenylalanine hydroxylase mutations. These mutations were selected due to their high frequencies in other Brazilian populations and in Portugal, where the largest contingent of the Caucasian component of the Brazilian population originated from. The most frequent mutations were V388M (21%), R261Q (16%), IVS10nt11 (13.4%), I65T (5.7%), and R252W (5%). The frequencies of the other four mutations (R261X, R408W, Y414C, and IVS12nt1) did not reach 2%. By testing these nine mutations, we were able to identify 64% of the PKU alleles in our sample. V388M frequency was higher than in any other known population and almost three times larger than that observed in Portugal, probably reflecting genetic drift. The mutation profile, as well as the relative frequency of the different mutations, suggest that the Minas Gerais population more closely resembles that of Portugal than do the other Brazilian populations that have already been tested.

Assuntos

Assuntos