996 resultados para Genotype distribution


Relevância:

20.00% 20.00%

Publicador:

Resumo:

BACKGROUND The etiology of Ulcerative Colitis (UC) and Crohn's Disease (CD), considered together as Inflammatory Bowel Diseases (IBD), involves environmental and genetic factors. Although some genes are already known, the genetics underlying these diseases is complex and new candidates are continuously emerging. The CD209 gene is located in a region linked previously to IBD and a CD209 functional polymorphism (rs4804803) has been associated to other inflammatory conditions. Our aim was to study the potential involvement of this CD209 variant in IBD susceptibility. METHODS We performed a case-control study with 515 CD patients, 497 UC patients and 731 healthy controls, all of them white Spaniards. Samples were typed for the CD209 single nucleotide polymorphism (SNP) rs4804803 by TaqMan technology. Frequency comparisons were performed using chi2 tests. RESULTS No association between CD209 and UC or CD was observed initially. However, stratification of UC patients by HLA-DR3 status, a strong protective allele, showed that carriage of the CD209_G allele could increase susceptibility in the subgroup of HLA-DR3-positive individuals (p = 0.03 OR = 1.77 95% CI 1.04-3.02, vs. controls). CONCLUSION A functional variant in the CD209 gene, rs4804803, does not seem to be influencing Crohn's disease susceptibility. However, it could be involved in the etiology or pathology of Ulcerative Colitis in HLA-DR3-positive individuals but further studies are necessary.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

A study was carried out to determine the distribution and habitat preferences of several species of the genus Biomphalaria. Samples were taken at 350 freshwater locations in Cuba. Three species of Biomphalaria (Biomphalaria havanensis, Biomphalaria helophila and Biomphalaria pallida) were recorded based on their distribution. Of the three species, B. havanensis has the weakest distribution because it was identified in only one locality. The other species, B. helophila and B. pallida, are abundant in rivers and dams and have large populations in Cuba. However, the only species that appears to occur in ecosystems shared with thiarids is B. pallida, possibly due to recent introduction of thiarids, but always in fewer numbers. Here we discuss the possibility of these species to act as intermediary hosts of Schistosoma mansoni in Cuba over the basis of occurrence in natural and anthropic habitats.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

Hepatitis C virus (HCV) is a major cause of liver disease throughout the world. The NS5A and E2 proteins of HCV genotype 1 were reported to inhibit the double-stranded (ds) RNA-dependent protein kinase (PKR), which is involved in the cellular antiviral response induced by interferon (IFN). The response to IFN therapy is quite different between genotypes, with response rates among patients infected with types 2 and 3 that are two-three-fold higher than in patients infected with type 1. Interestingly, a significant percentage of HCV genotype 3-infected patients do not respond to treatment at all. The aim of this paper was to analyse the sequences of fragments of the E2 and NS5A regions from 33 outpatients infected with genotype 3a, including patients that have responded (SVR) or not responded (NR) to treatment. HCV RNA was extracted and amplified with specific primers for the NS5A and E2 regions and the PCR products were then sequenced. The sequences obtained covered amino acids (aa) 636-708 in E2 and in NS5A [including the IFN sensitivity determining region (ISDR), PKR-binding domain and extended V3 region)]. In the E2 and NS5A regions, we did observe aa changes among patients, but these changes were not statistically significant between the SVR and NR groups. In conclusion, our results suggest that the ISDR domain is not predictive of treatment success in patients infected with HCV genotype 3a.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

This paper presents a new charging scheme for cost distribution along a point-to-multipoint connection when destination nodes are responsible for the cost. The scheme focus on QoS considerations and a complete range of choices is presented. These choices go from a safe scheme for the network operator to a fair scheme to the customer. The in-between cases are also covered. Specific and general problems, like the incidence of users disconnecting dynamically is also discussed. The aim of this scheme is to encourage the users to disperse the resource demand instead of having a large number of direct connections to the source of the data, which would result in a higher than necessary bandwidth use from the source. This would benefit the overall performance of the network. The implementation of this task must balance between the necessity to offer a competitive service and the risk of not recovering such service cost for the network operator. Throughout this paper reference to multicast charging is made without making any reference to any specific category of service. The proposed scheme is also evaluated with the criteria set proposed in the European ATM charging project CANCAN

Relevância:

20.00% 20.00%

Publicador:

Resumo:

Brazilian studies involving entomological succession patterns in carcasses have been used to describe the necrophagous entomofauna of a determined municipality or region with forensic objectives. Following the same objectives, an ecological study with 10 calyptrate dipterans was carried out during the winter of 2007 and the summer of 2008 in the metropolitan region of the municipality of Rio de Janeiro. The aim of this study was to describe several aspects of the phenology of these species in three neighbouring areas. Carcasses of three domestic pigs (Sus scrofa L.) were used in each season as models for forensic and legal medicine investigations in the region. Temperature, relative humidity and rainfall were measured daily and their relations with population abundance of the colonising species and the decomposition stages were analysed. Ten fly species were recorded to be colonising the carcasses, five of which belonged to the Calliphoridae family, three to the Muscidae, one to the Fanniidae and one to the Sarcophagidae family. Data show preferences of these species for climatic season and decomposition stage, as well as for the studied area and suggest that short distances can significantly influence the abundance of some species.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

This study investigated some epidemiological aspects of the Mansonella ozzardi in municipality of Coari, Amazonas. Clinical symptoms were correlated with the filarial infection and the parasitic infection rates (PIR) were estimated in simuliid vectors. The general M. ozzardi human prevalence rate was 13.3% (231/1733), of which 10.2% (109/1069) were from the urban area and 18.4% (122/664) from the rural area. The prevalence rates were higher in men (14.5% urban and 19.7% rural) than in women (6.7% urban and 17.2% rural) and occurred in most age groups. The indices of microfilaremics were higher in people > 51 years old (26.9% urban and 61.5% rural). High prevalence rates were observed in retired people (27.1% urban area), housewives and farmer (41.6% and 25%, respectively, in rural area). The main clinical symptoms were joint pains and sensation of leg coldness. Only Cerqueirellum argentiscutum (Simuliidae) transmits M. ozzardi in this municipality (PIR = 5.6% urban and 7.1% rural). M. ozzardi is a widely distributed parasitic disease in Coari. Thus, temporary residency in the region of people from other localities involved with the local gas exploitation might be a contributing factor in spreading the disease.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

The neuronal monocarboxylate transporter, MCT2, is not only an energy substrate carrier but it is also purported to be a binding partner for the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor GluR2 subunit. To unravel a putative role of MCT2 in the regulation of GluR2 subcellular distribution, Neuro2A cells and primary cultures of mouse cortical neurons were co-transfected with plasmids containing sequences to express the fluorescent proteins mStrawberry (mStb)-fused MCT2 and Venus-fused GluR2. Subsequently, their subcellular distribution was visualized by fluorescence microscopy. GluR2 was led to form perinuclear and dendritic clusters together with MCT2 when co-transfected in Neuro2A cells or in neurons, following the original distribution of MCT2. MCT2 co-transfection had no effect on the intracellular distribution of several other post-synaptic proteins, although it partially affected the intracellular distribution of GluR1 similarly to GluR2. Both cell surface and total protein expression levels of GluR2 were significantly reduced by co-expression with MCT2. Finally, partial perinuclear and dendritic co-localization between MCT2 and Rab8, a member of the small GTPase family involved in membrane trafficking of AMPA receptors, was also observed in co-transfected neurons. These results suggest that MCT2 could influence AMPA receptor trafficking within neurons by modulating GluR2 sorting between different subcellular compartments.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

This paper analyses the associations between Normalized Difference Vegetation Index (NDVI) and Enhanced Vegetation Index (EVI) on the prevalence of schistosomiasis and the presence of Biomphalaria glabrata in the state of Minas Gerais (MG), Brazil. Additionally, vegetation, soil and shade fraction images were created using a Linear Spectral Mixture Model (LSMM) from the blue, red and infrared channels of the Moderate Resolution Imaging Spectroradiometer spaceborne sensor and the relationship between these images and the prevalence of schistosomiasis and the presence of B. glabrata was analysed. First, we found a high correlation between the vegetation fraction image and EVI and second, a high correlation between soil fraction image and NDVI. The results also indicate that there was a positive correlation between prevalence and the vegetation fraction image (July 2002), a negative correlation between prevalence and the soil fraction image (July 2002) and a positive correlation between B. glabrata and the shade fraction image (July 2002). This paper demonstrates that the LSMM variables can be used as a substitute for the standard vegetation indices (EVI and NDVI) to determine and delimit risk areas for B. glabrata and schistosomiasis in MG, which can be used to improve the allocation of resources for disease control.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

BACKGROUND Spain shows the highest bladder cancer incidence rates in men among European countries. The most important risk factors are tobacco smoking and occupational exposure to a range of different chemical substances, such as aromatic amines. METHODS This paper describes the municipal distribution of bladder cancer mortality and attempts to "adjust" this spatial pattern for the prevalence of smokers, using the autoregressive spatial model proposed by Besag, York and Molliè, with relative risk of lung cancer mortality as a surrogate. RESULTS It has been possible to compile and ascertain the posterior distribution of relative risk for bladder cancer adjusted for lung cancer mortality, on the basis of a single Bayesian spatial model covering all of Spain's 8077 towns. Maps were plotted depicting smoothed relative risk (RR) estimates, and the distribution of the posterior probability of RR>1 by sex. Towns that registered the highest relative risks for both sexes were mostly located in the Provinces of Cadiz, Seville, Huelva, Barcelona and Almería. The highest-risk area in Barcelona Province corresponded to very specific municipal areas in the Bages district, e.g., Suría, Sallent, Balsareny, Manresa and Cardona. CONCLUSION Mining/industrial pollution and the risk entailed in certain occupational exposures could in part be dictating the pattern of municipal bladder cancer mortality in Spain. Population exposure to arsenic is a matter that calls for attention. It would be of great interest if the relationship between the chemical quality of drinking water and the frequency of bladder cancer could be studied.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

Praziquantel chemotherapy has been the focus of the Schistosomiasis Control Program in Brazil for the past two decades. Nevertheless, information on the impact of selective chemotherapy against Schistosoma mansoni infection under the conditions confronted by the health teams in endemic municipalities remains scarce. This paper compares the spatial pattern of infection before and after treatment with either a 40 mg/kg or 60 mg/kg dose of praziquantel by determining the intensity of spatial cluster among patients at 180 and 360 days after treatment. The spatial-temporal distribution of egg-positive patients was analysed in a Geographic Information System using the kernel smoothing technique. While all patients became egg-negative after 21 days, 17.9% and 30.9% reverted to an egg-positive condition after 180 and 360 days, respectively. Both the prevalence and intensity of infection after treatment were significantly lower in the 60 mg/kg than in the 40 mg/kg treatment group. The higher intensity of the kernel in the 40 mg/kg group compared to the 60 mg/kg group, at both 180 and 360 days, reflects the higher number of reverted cases in the lower dose group. Auxiliary, preventive measures to control transmission should be integrated with chemotherapy to achieve a more enduring impact.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

BACKGROUND. The Beijing lineage of Mycobacterium tuberculosis is causing concern due to its global distribution and its involvement in severe outbreaks. Studies focused on this lineage are mainly restricted to geographical settings where its prevalence is high, whereas those in other areas are scarce. In this study, we analyze Beijing isolates in the Mediterranean area, where this lineage is not prevalent and is mainly associated with immigrant cases. RESULTS. Only 1% (N = 26) of the isolates from two population-based studies in Spain corresponded to Beijing strains, most of which were pan-susceptible and from Peruvian and Ecuadorian patients. Restriction fragment length polymorphism typing with the insertion sequence IS6110 identified three small clusters (2-3 cases). Mycobacterial interspersed repetitive unit-variable number tandem repeat typing (MIRU-15) offered low discriminatory power, requiring the introduction of five additional loci. A selection of the Beijing isolates identified in the Spanish sample, together with a sample of Beijing strains from Italy, to broaden the analysis context in the Mediterranean area, were assayed in an infection model with THP-1 cells. A wide range of intracellular growth rates was observed with only two isolates showing an increased intracellular replication, in both cases associated with contained production of TNF-alpha. No correlation was observed between virulence and the Beijing phylogenetic group, clustered/orphan status, or resistance. The Beijing strain responsible for extensive spread on Gran Canaria Island was also identified in Madrid, but did not lead to secondary cases and did not show high infectivity in the infection model. CONCLUSIONS. The Beijing lineage in our area is a non-homogeneous family, with only certain highly virulent representatives. The specific characterization of Beijing isolates in different settings could help us to accurately identify the virulent representatives before making general assumptions about this lineage.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

Caveolae are involved in physical compartmentalization between different groups of signaling events. Its main component, CAV1, modulates different pathways in cellular physiology. The emerging evidence pointing to the role of CAV1 in cancer led us to study whether different alleles of this gene are associated with colorectal cancer (CRC). Since one of the most characterized enzymes regulated by CAV1 is eNOS, we decided to include both genes in this study. We analyzed five SNPs in 360 unrelated CRC patients and 550 controls from the general population. Two of these SNPs were located within eNOS and three within the CAV1 gene. Although haplotype distribution was not associated with CRC, haplotype TiA (CAV1) was associated with familiar forms of CRC (p<0.05). This was especially evident in CRC antecedents and nuclear forms of CRC. If both CG (eNOS) and TiA (CAV1) haplotypes were taken together, this association increased in significance. Thus, we propose that CAV1, either alone or together with eNOS alleles, might modify CRC heritability.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

BACKGROUND We describe the diversity of two kinds of mycobacteria isolates, environmental mycobacteria and Mycobacterium bovis collected from wild boar, fallow deer, red deer and cattle in Doñana National Park (DNP, Spain), analyzing their association with temporal, spatial and environmental factors. RESULTS High diversity of environmental mycobacteria species and M. bovis typing patterns (TPs) were found. When assessing the factors underlying the presence of the most common types of both environmental mycobacteria and M. bovis TPs in DNP, we evidenced (i) host species differences in the occurrence, (ii) spatial structuration and (iii) differences in the degree of spatial association of specific types between host species. Co-infection of a single host by two M. bovis TPs occurred in all three wild ungulate species. In wild boar and red deer, isolation of one group of mycobacteria occurred more frequently in individuals not infected by the other group. While only three TPs were detected in wildlife between 1998 and 2003, up to 8 different ones were found during 2006-2007. The opposite was observed in cattle. Belonging to an M. bovis-infected social group was a significant risk factor for mycobacterial infection in red deer and wild boar, but not for fallow deer. M. bovis TPs were usually found closer to water marshland than MOTT. CONCLUSIONS The diversity of mycobacteria described herein is indicative of multiple introduction events and a complex multi-host and multi-pathogen epidemiology in DNP. Significant changes in the mycobacterial isolate community may have taken place, even in a short time period (1998 to 2007). Aspects of host social organization should be taken into account in wildlife epidemiology. Wildlife in DNP is frequently exposed to different species of non-tuberculous, environmental mycobacteria, which could interact with the immune response to pathogenic mycobacteria, although the effects are unknown. This research highlights the suitability of molecular typing for surveys at small spatial and temporal scales.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

Fault location has been studied deeply for transmission lines due to its importance in power systems. Nowadays the problem of fault location on distribution systems is receiving special attention mainly because of the power quality regulations. In this context, this paper presents an application software developed in Matlabtrade that automatically calculates the location of a fault in a distribution power system, starting from voltages and currents measured at the line terminal and the model of the distribution power system data. The application is based on a N-ary tree structure, which is suitable to be used in this application due to the highly branched and the non- homogeneity nature of the distribution systems, and has been developed for single-phase, two-phase, two-phase-to-ground, and three-phase faults. The implemented application is tested by using fault data in a real electrical distribution power system