Polimorfismo nos genes metilenotetrahidrofolato redutase e cistationina-beta-sintase e a sua relação com eventos vaso-oclusivos na doença falciforme

Sickle cell disease is an inflammatory condition with a pathophysiology that involves vaso-occlusive episodes. Mutations of the methylenetetrahydrofolate reductase (MTHFR) and cystathionine beta-synthase (CBS) genes are risk factors for vascular disease. Due to the importance of identifying risk factors for vaso-occlusive events in sickle cell patients, we investigated the frequencies of the C677T and 844ins68 mutations of the MTHFR and CBS genes, respectively. Three hundred patients with Hb SS, HB SC and HbS/Beta thalassemia, from Brasília, Goiânia, Rio de Janeiro, São Jose do Rio Preto and São Paulo were evaluated. Samples of 5 mL of venous blood were collected in EDTA after informed consent was received from patients. Classical diagnostic methods were used to confirm the hemoglobin phenotypes. The hemoglobin genotypes and polymorphisms studied were evaluated by Restriction Fragment Length Polymorphism and Allele Specific amplification. The results showed that 93 patients (31.00%) were heterozygous and 13 (4.33%) homozygous for the C677T mutation and 90 were heterozygotes (30.00%) and 8 homozygous (2.66%) for the 844ins68 mutation, both with significant differences for genotype frequency between the localities. The allelic frequencies are in Hardy-Weinberg equilibrium for both polymorphisms. The frequency of mutations was significant and the presence of related vaso-occlusive events was more common in patients with Hb SS (p = 0007). The 844ins68 mutation was approximately three times more frequent in patients with vaso-occlusive complications (p = 0011). The C677T mutation did not prove to be associated with risk of vaso-occlusive events (p = 0.193). A C677T-844ins68 interaction occurred in 12.08% of the patients, doubling the risk of vaso-occlusive manifestations. The frequencies of the polymorphisms are consistent with those expected in the Brazilian population. The presence of the 844ins68 mutation of the CBS gene proved to be a potential risk factor for vaso-occlusive events in sickle cell patients.

Variation in the CXCR1 gene (IL8RA) is not associated with susceptibility to chronic periodontitis

Background: The chemokine receptor 1 CXCR-1 (or IL8R-alpha) is a specific receptor for the interleukin 8 (IL-8), which is chemoattractant for neutrophils and has an important role in the inflammatory response. The polymorphism rs2234671 at position Ex2+860G > C of the CXCR1 gene causes a conservative amino acid substitution (S276T). This single nucleotide polymorphism (SNP) seemed to be functional as it was associated with decreased lung cancer risk. Previous studies of our group found association of haplotypes in the IL8 and in the CXCR2 genes with the multifactorial disease chronic periodontitis. In this study we investigated the polymorphism rs2234671 in 395 Brazilian subjects with and without chronic periodontitis. Findings. Similar distribution of the allelic and genotypic frequencies were observed between the groups (p > 0.05). Conclusions: The polymorphism rs2234671 in the CXCR1 gene was not associated with the susceptibility to chronic periodontitis in the studied Brazilian population. © 2011 Scarel-Caminaga et al; licensee BioMed Central Ltd.

Social disparity and oral health

There is a clear reported association between social disparity and oral health, for example, between dental caries and malnutrition in children. This fact is detected in several studies, and also found amongst the Brazilian population. However, several efforts have been made to improve the quality of life of the population and to achieve the 2015 Millennium Development Goals. Oral health is a branch to be improved among these goals. The Brazilian experience has been drawing the attention of authorities, insofar as there have been direct improvements in oral health through state oral health programs, and also indirect results by improving the quality of life of the population. Included within the Brazilian oral health programs are the Family Health Program and Smiling Brazil Program. The former is a global healthcare program which involves primary oral healthcare, while the latter is a specialized oral care program. Among the social programs that would indirectly improve oral health are Family Stipend and the Edmond and Lily Safra International Institute of Neuroscience of Natal (ELS-IINN). In conclusion, although oral health problems are related to socioeconomic factors, the implementation of primary oral health programs and programs to improve the population's quality of life may directly or indirectly improve the oral health scenario. This fact is being observed in Brazil, where the oral health policies have changed, and social programs have been implemented.

Productivity and water suppression in different beans (Phaseolus vulgaris L.) phenological stages

Common Bean (Phaseolus vulgaris L.) is widespread in the social and economic scene in Brazil, as well it is Brazilian population main dish, and it also helps small and medium farmers' income. The objective of this study was to compare the productivity performance of common bean Carioca - IAC Alvorada with irrigation suppression in each of the five phenological phases. The experiment was conducted in plots in a greenhouse at College of Agronomical Sciences, São Paulo State University (UNESP), Botucatu - SP. The hypothesis is that if the water supply is suppressed in one of the five development stages of irrigated common beans, the yield reduction would be at least 20%. The treatments consisted of suppression irrigation in one of the five development stages (stage V1 to V3, stage V4 to early flowering, flowering stage, pod formation stage and pod filling stage) compared with the irrigation at all stages and suppression of irrigation at all stages, with seven treatments and four replications. The treatments most affected by water suppression were those which suffered suppression of irrigation during the vegetative phase and flowering stage. Treatments with water suppression in all stages, and suppression during the phases (stage V1 to V3, stage V4 to early flowering, flowering stage, pod formation stage and pod filling stage) showed yield reduction of approximately 95%, 55.1%, 49.5%, 63,1%, 30.2% and 35.6%, respectively, when compared to treatment with irrigation all stages. All treatments considered confirmed the hypothesis.

Profiles of gene polymorphisms in cytokines and toll-like receptors with higher risk for gastric cancer

Background: Chronic inflammation and gastric carcinogenesis show a close association, so gene polymorphisms that modify the intensity of the inflammatory response may contribute to variations in gastric cancer risk. Aims: The purpose of this study was to investigate the combined effect of the pro- and anti-inflammatory cytokines and toll-like receptors polymorphisms on the chronic gastritis and gastric cancer risk in a Brazilian population sample. Methods: We evaluated 669 DNA samples (200 of gastric cancer [GC], 229 of chronic gastritis [CG], and 240 of healthy individuals [C]). Ten polymorphisms were genotyped: IL-1RN and TLR2 -196 to -174 del using the allele-specific PCR method and TNF-A (rs1800629; rs1799724), TNF-B (rs909253), IL-8 (rs4073; rs2227532), IL-10 (rs1800872) and TLR4 (rs4986790; rs4986791) using PCR-RFLP. Results: Polymorphisms TNF-A-308G/A, IL-8-251A/T, TNF-B + 252A/G and TLR4 + 1196C/T were not associated with risk of any gastric lesion. However, an association with increased risk for GC was observed for polymorphisms IL-1RNL/2 (p < 0.001), TNF-A-857C/T (p = 0.022), IL-8-845T/C (p < 0.001), IL-10-592C/A (p < 0.001), TLR2ins/del (p < 0.001), and TLR4 + 896A/G (p = 0.033). In CG, an association was observed only with polymorphisms IL-1RNL/2 and IL-10-592A/C (p < 0.001 for both). A combined analysis of these six polymorphisms associated with GC revealed a profile with two to four combined genotypes which confer a higher risk of gastric carcinogenesis, with an OR increased 2.95-fold to 50.4-fold, highlighting the combinations IL-1RN2/TNF-A-857T/IL-8-845C, IL-1RN2/IL-8-845C/TLR2del, IL-1RN2/IL-10-592A/TLR4 + 896G, IL-10-592A/TLR2del/ TLR4 + 896G, and IL-1RN2/TNFA-857T/IL8-845C/TLR2del. Conclusions: Our findings evidenced that the combined effect of polymorphisms in genes involved in the inflammatory process may potentiate the risk of gastric cancer, thus emphasizing the importance of evaluating multiple polymorphisms together. © 2012 Springer Science+Business Media New York.

Occurrence of mycobacteria in bovine milk samples from both individual and collective bulk tanks at farms and informal markets in the southeast region of Sao Paulo, Brazil

Background: Mycobacterium spp. is one of the most important species of zoonotic pathogens that can be transmitted from cattle to humans. The presence of these opportunistic, pathogenic bacteria in bovine milk has emerged as a public-health concern, especially among individuals who consume raw milk and related dairy products. To address this concern, the Brazilian control and eradication program focusing on bovine tuberculosis, was established in 2001. However, bovine tuberculosis continues to afflict approximately 1,3 percent of the cattle in Brazil. In the present study, 300 samples of milk from bovine herds, obtained from both individual and collective bulk tanks and informal points of sale, were cultured on Löwenstein-Jensen and Stonebrink media. Polymerase chain reaction (PCR)-based tests and restriction-enzyme pattern analysis were then performed on the colonies exhibiting phenotypes suggestive of Mycobacterium spp., which were characterized as acid-fast bacilli.Results: Of the 300 bovine milk samples that were processed, 24 were positively identified as Mycobacterium spp.Molecular identification detected 15 unique mycobacterial species: Mycobacterium bovis, M. gordonae, M. fortuitum, M. intracellulare, M. flavescens, M. duvalii, M. haemophilum, M. immunogenum, M. lentiflavum, M. mucogenicum, M. novocastrense, M. parafortuitum, M. smegmatis, M. terrae and M. vaccae. The isolation of bacteria from the various locations occurred in the following proportions: 9 percent of the individual bulk-tank samples, 7 percent of the collective bulk-tank samples and 8 percent of the informal-trade samples. No statistically significant difference was observed between the presence of Mycobacterium spp. in the three types of samples collected, the milk production profiles, the presence of veterinary assistance and the reported concerns about bovine tuberculosis prevention in the herds.Conclusion: The microbiological cultures associated with PCR-based identification tests are possible tools for the investigation of the presence of Mycobacterium spp. in milk samples. Using these methods, we found that the Brazilian population may be regularly exposed to mycobacteria by consuming raw bovine milk and related dairy products. These evidences reinforces the need to optimize quality programs of dairy products, to intensify the sanitary inspection of these products and the necessity of further studies on the presence of Mycobacterium spp. in milk and milk-based products. © 2013 Franco et al.; licensee BioMed Central Ltd.

Development and validation of a D-loop mtDNA SNP assay for the screening of specimens in forensic casework

Mitochondrial DNA (mtDNA) analysis is usually a last resort in routine forensic DNA casework. However, it has become a powerful tool for the analysis of highly degraded samples or samples containing too little or no nuclear DNA, such as old bones and hair shafts. The gold standard methodology still constitutes the direct sequencing of polymerase chain reaction (PCR) products or cloned amplicons from the HVS-1 and HVS-2 (hypervariable segment) control region segments. Identifications using mtDNA are time consuming, expensive and can be very complex, depending on the amount and nature of the material being tested. The main goal of this work is to develop a less labour-intensive and less expensive screening method for mtDNA analysis, in order to aid in the exclusion of non-matching samples and as a presumptive test prior to final confirmatory DNA sequencing. We have selected 14 highly discriminatory single nucleotide polymorphisms (SNPs) based on simulations performed by Salas and Amigo (2010) [1] to be typed using SNaPShotTM (Applied Biosystems, Foster City, CA, USA). The assay was validated by typing more than 100 HVS-1/HVS-2 sequenced samples. No differences were observed between the SNP typing and DNA sequencing when results were compared, with the exception of allelic dropouts observed in a few haplotypes. Haplotype diversity simulations were performed using 172 mtDNA sequences representative of the Brazilian population and a score of 0.9794 was obtained when the 14 SNPs were used, showing that the theoretical prediction approach for the selection of highly discriminatory SNPs suggested by Salas and Amigo (2010) [1] was confirmed in the population studied. As the main goal of the work is to develop a screening assay to skip the sequencing of all samples in a particular case, a pair-wise comparison of the sequences was done using the selected SNPs. When both HVS-1/HVS-2 SNPs were used for simulations, at least two differences were observed in 93.2% of the comparisons performed. The assay was validated with casework samples. Results show that the method is straightforward and can be used for exclusionary purposes, saving time and laboratory resources. The assay confirms the theoretic prediction suggested by Salas and Amigo (2010) [1]. All forensic advantages, such as high sensitivity and power of discrimination, as also the disadvantages, such as the occurrence of allele dropouts, are discussed throughout the article. © 2013 Elsevier B.V.

Comparison of body size, relative growth and size at onset sexual maturity of Uca uruguayensis (Crustacea: Decapoda: Ocypodidae) from different latitudes in the south-western Atlantic

Some crustaceans show variations of their reproductive biology within their geographical distribution, and knowledge about such variations is important for the comprehension of their reproductive adaptations. This study compared two populations of the fiddler crab Uca uruguayensis from two locations on the south-western Atlantic coast: Ubatuba Bay, São Paulo, Brazil and Samborombón Bay, Buenos Aires, Argentina. The population features analysed were the body size variation (carapace width = CW) and the size at the onset of sexual maturity (SOM) in order to test the hypothesis that the size at SOM, should be the same in relative terms (RSOM), independently of the latitudinal position. In the Brazilian population the CW ranged from 4.18 to 11.60 mm for males and 3.90 to 9.80 mm for females, and in the Argentinean population from 3.60 to 14.10 mm for males and 2.85 to 12.00 mm for females. In the Brazilian population the SOM was 7.1 (RSOM = 0.58) and 5.9 mm CW (RSOM = 0.57) for males and females, respectively, and in the Argentinean population it was 7.0 (RSOM = 0.42) and 6.75 mm CW (RSOM = 0.53) for males and females, respectively. This fact is probably related to a great plasticity in the life history features of Uca uruguayensis under different environmental conditions. © 2012 Marine Biological Association of the United Kingdom.

Uma pesquisa sobre a opinião pública sobre incentivos financeiros para doação de óvulos no Brasil

Objective: The objective of this study was to assess the opinions of the Brazilian population about incentives for oocyte donation. Methods: A cross-sectional descriptive approach was used to consult the Brazilian public. The data collection involved the use of a structured questionnaire about legal and ethical issues surrounding oocyte donation. Individuals were randomly selected from the general population using different e-mail lists. Potential participants were contacted by e-mail and invited to participate in the study by completing an online web survey. Results: A total of 1,565 people completed the survey, including 1,284 women(82%) and 281 men(18%). Among the respondents, 1,309(83.6%) were university graduates, 1,033(66%) had a personal income ≥1,250 US dollars/month, 1,346(86%) considered themselves to be religious and 518 (33.1%) were health professionals. While many participants believed that women may donate their oocytes for altruistic reasons, the majority believed that a lack of oocyte donations is due to the prohibition of payments(64.3%) and that incentives would facilitate the decision to donate oocytes(84.7%). The majority of the participants(65.3%) agreed that a financial incentive(i.e., paying the donor) would be the most practical solution for increasing the number of oocyte donations. These results tended to be independent of gender, age, income, religion, education level and profession. Conclusion: While the Brazilian Federal Council of Medicine prohibits payments for oocyte donation, the majority of study participants had no objection to compensating oocyte donors. Moreover, most of the participants agreed that a financial incentive is the most practical solution to increasing the number of oocyte donations.

Season of birth as a risk factor for multiple sclerosis in Brazil

Risk factors for development of multiple sclerosis (MS) are still a matter of debate. Latitude gradient, vitamin D deficiency and season of birth are among the most investigated environmental factors associated with the disease. Several international studies suggest that birth in spring is a substantial risk factor for MS. We investigated the season of birth as a potential risk for MS in different geographical regions of Brazil. We conducted a cross-sectional retrospective study with 2257 clinically definite MS patients enrolled in 13 Brazilian MS clinics in the south, southeast, and northeast regions of Brazil. Demographic and clinical data relating to date of birth and clinical features of the disease were collected and analysed, and subsequently compared with birth date among the general Brazilian population. The distribution of date of birth of MS patients showed an increase in spring and a decrease in autumn, with no difference being observed in the other seasons. In conclusion, season of birth is a probable risk factor for MS in most parts of Brazil. These findings may be related to the role that vitamin D plays in MS pathogenesis. © 2013 Elsevier B.V. All rights reserved.

Rastreamento de polimorfsmos no gene HIOMT e associações com os fenótipos circadianos

HIOMT is a gene that encodes hydroxyindole-O-methyltransfe-rase, the final enzyme in the melatonin synthesis pathway. As the timing of melatonin synthesis is different for morning and evening people, it is possible that polymorphisms in genes coding for the enzymes which participate in melatonin synthesis can influence this hormone synthesis and release patterns that may result in different circadian outputs. The aim of this study was to search for polymorphisms in the HIOMT gene and to verify possible associations between genetic variations in this gene and circadian phenotypes in a Brazilian population sample. Among the 44 extreme morning and the 48 extreme evening people, ten polymorphisms were found, being two of them not described so far. Haploview analyses showed linkage disequilibrium between pairs of polymorphisms in the promoter B region. Also, the haplotype AG (rs4446909, rs5989681) is associated with evening preference. The analysis of these data indicates that polymorphisms in the HIOMT gene exhibit a possible trend to influence circadian phenotypes in this Brazilian population sample, possibly affecting the rate and/or level of melatonin synthesis.

Níveis séricos de vitamina D associados com indicadores da síndrome metabólica na população brasileira

Pós-graduação em Ciências Biológicas (Biologia Celular e Molecular) - IBRC

Estudo de SNPs do cromossomo Y na população do Estado do Espirito Santo, Brasil

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Estudo de frequências alélicas de STRs do cromossomo X na população brasileira de Araraquara-SP

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Desenvolvimento de bebida a base de leite de soja acrescida de suco de graviola

Pós-graduação em Alimentos e Nutrição - FCFAR