RESUMO
EPIGEN-Brazil is one of the largest Latin American initiatives at the interface of human genomics, public health, and computational biology. Here, we present two resources to address two challenges to the global dissemination of precision medicine and the development of the bioinformatics know-how to support it. To address the underrepresentation of non-European individuals in human genome diversity studies, we present the EPIGEN-5M+1KGP imputation panel-the fusion of the public 1000 Genomes Project (1KGP) Phase 3 imputation panel with haplotypes derived from the EPIGEN-5M data set (a product of the genotyping of 4.3 million SNPs in 265 admixed individuals from the EPIGEN-Brazil Initiative). When we imputed a target SNPs data set (6487 admixed individuals genotyped for 2.2 million SNPs from the EPIGEN-Brazil project) with the EPIGEN-5M+1KGP panel, we gained 140,452 more SNPs in total than when using the 1KGP Phase 3 panel alone and 788,873 additional high confidence SNPs (info score ≥ 0.8). Thus, the major effect of the inclusion of the EPIGEN-5M data set in this new imputation panel is not only to gain more SNPs but also to improve the quality of imputation. To address the lack of transparency and reproducibility of bioinformatics protocols, we present a conceptual Scientific Workflow in the form of a website that models the scientific process (by including publications, flowcharts, masterscripts, documents, and bioinformatics protocols), making it accessible and interactive. Its applicability is shown in the context of the development of our EPIGEN-5M+1KGP imputation panel. The Scientific Workflow also serves as a repository of bioinformatics resources.
Assuntos
Genoma Humano/genética , Brasil , Biologia Computacional/métodos , Genômica/métodos , Haplótipos/genética , Humanos , América Latina , Polimorfismo de Nucleotídeo Único/genética , Reprodutibilidade dos Testes , Software , Fluxo de TrabalhoRESUMO
BACKGROUND: The present study's objectives were to compare the perceptions of oral health-related quality of life (OHRQoL) among school children presents dental caries with that of caries-free school children, and to evaluate the subjective impact of atraumatic restorative treatment (ART) on the OHRQoL of school children. DESIGN: Exploratory study. SETTING: Public school in Piracicaba, Brazil. MATERIALS AND METHODS: The sample was composed of 30 children in the age-group of 8-10 years. The children were divided into two groups: one with caries and other without caries. The information related to OHRQoL was obtained through the administration of the Child Perceptions Questionnaires (CPQ 8-10 ). To evaluate the impact of ART on the school children's OHRQoL, the CPQ 8-10 was re-administered 4 weeks after the initial treatment. For statistical analysis we used the nonparametric Wilcoxon test for two dependent variables (test and re-test groups) and the nonparametric Mann-Whitney test for independent variables (test and control groups). RESULTS: It was observed that children with dental caries reported larger impact of oral health conditions on the quality of life when compared with the caries-free group, especially in the emotional and social well-being domains ( P ≤.05). After the school children who presented with dental caries received ART, there was improvement in the median scores of CPQ 8-10 in all of the domains, but particularly in the functional limitation domain ( P ≤.05). CONCLUSION: Dental caries exerts a strong influence on the OHRQoL of children. ART was shown to be a simple and painless caries management approach that could improve the OHRQoL of school children.
Assuntos
Tratamento Dentário Restaurador sem Trauma/psicologia , Saúde Bucal , Qualidade de Vida , Atitude Frente a Saúde , Criança , Índice CPO , Cárie Dentária/psicologia , Cárie Dentária/terapia , Emoções , Seguimentos , Humanos , Relações Interpessoais , Autoimagem , Dente Decíduo/patologiaRESUMO
PURPOSE: To describe the presence of iris neovascularization in a rabbit-model of retinal neovascularization induced by the intravitreal injection of latex-derived angiogenic fraction microspheres (LAF). MATERIALS AND METHODS: Eight New Zealand rabbits received one intravitreal injection of PLGA (L-lactide-co-glycolide) microspheres with 50 ug of LAF in the right eye (Group A). Microspheres without the LAF (0.1 ml) were injected in controls (Group B; n = 8). Follow-up with clinical evaluation and iris fluorescein angiography was performed after 4 weeks when eyes were processed for light microscopy. RESULTS: All eyes from Group A showed significant vascular dilation, conjunctival hyperemia and neovascularization on the iris surface, after LAF injection. No vascular changes were observed in Group B. CONCLUSIONS: The intravitreal injection of microspheres containing the LAF can induce rubeosis iridis in rabbits and could be used as a simple experimental model for iris neovascularization.
Assuntos
Indutores da Angiogênese/toxicidade , Glaucoma Neovascular/etiologia , Iris/irrigação sanguínea , Látex/toxicidade , Neovascularização Patológica/induzido quimicamente , Indutores da Angiogênese/administração & dosagem , Animais , Modelos Animais de Doenças , Progressão da Doença , Portadores de Fármacos , Feminino , Angiofluoresceinografia , Fundo de Olho , Glaucoma Neovascular/patologia , Injeções Intravítreas , Iris/efeitos dos fármacos , Ácido Láctico , Látex/administração & dosagem , Microesferas , Neovascularização Patológica/complicações , Neovascularização Patológica/patologia , Ácido Poliglicólico , Copolímero de Ácido Poliláctico e Ácido Poliglicólico , Coelhos , Fatores de RiscoRESUMO
From January to December of 2006, 92 and 75 Escherichia coli isolates from diarrheic and healthy dogs, respectively, were examined for resistance to 11 antimicrobial agents. The predominantly observed resistance was to streptomycin (86.0%), cephalothin (71.0%), gentamicin (62.0%), amoxicillin (59.0%) among the isolates from diarrheic dogs and to nalidicxic acid (27.0%), cephalothin (25.0%), tetracycline (19.0%), ampicillin (19.0%) among the isolates from healthy dogs. Multidrug-resistance to four or more antimicrobial agents was found among 72.0% and 15.0% of the isolates from diarrheic and healthy dogs, respectively, what is a reason for concern. KEY-WORDS: Escherichia coli. Antimicrobial agents. Multidrug-resistance. Diarrheic dog. Healthy dog.
De janeiro a dezembro de 2006, 92 e 75 cepas de Escherichia coli isoladas de cães diarréicos e cães saudáveis respectivamente, foram examinadas para a detecção de resistência a 11 agentes antimicrobianos. As resistências predominantemente observadas foram para a estreptomicina (86,0%), cefalotina (71,0%), gentamicina (62,0%) e amoxicilina (59,0%) entre as cepas isoladas de cães diarréicos e para o ácido nalidixico (27,0%), cefalotina (25,0%), tetraciclina (19,0%) e ampicilina (19,0%) entre as cepas isoladas de cães saudáveis. A resistência a quatro ou mais agente antimicrobianos foi encontrada em 72,0% e 15,0% das cepas isoladas de cães diarréicos e saudáveis respectivamente, o que representa um motivo de preocupação. PALAVRAS-CHAVE: Escherichia coli. Agentes antimicrobianos. Resistência a múltiplas drogas. Cão diarréico. Cão saudável.
RESUMO
PURPOSE: To compare the prevalence of pterygium and cataract in four indigenous populations of the Brazilian Amazonian rain forest (Arawak, Tukano, Maku, and Yanomami) with different ethnic and social behaviour backgrounds. METHODS: A cross-sectional pterygium and cataract survey was performed in 624 adult Indians of the Brazilian rain forest belonging to four different ethnic groups. The Indians were classified according to their social behaviour in two groups: Arawak and Tukano (group 1) and Maku and Yanomami (group 2). Slit-lamp biomicroscopy was employed to examine the entire sample. All subjects were classified as 1 or 0 according to the presence or absence pterygium and cataract. Sex and age were also recorded. RESULTS: chi(2)-tests revealed that the prevalence of pterygium and cataract differed significantly between groups 1 and 2. For pterygia: 36.6% (97/265) and 5.0% (18/359), respectively (chi(2)=101.2, P<0.0001), and for cataracts: 24.5% (65/265) and 13.7% (49/359) respectively (chi(2)=12.09, P=0.0005). Gender was not associated with pterygium (P=0.1326) and cataract (P=0.2263) in both groups. Elderly subjects showed a significantly higher prevalence of cataract (P<0.0001). The prevalence of pterygia did not increase with age (P=0.8079) in both groups. CONCLUSION: Indians of group 1 have higher prevalence of pterygia and cataract than Indians of group 2. Social behaviour, especially the rate of sun exposure, appears to be the main factor for the different rates of pterygium and cataract displayed by these indigenous people of the Brazilian rain forest.
Assuntos
Catarata/etnologia , Pterígio/etnologia , Adulto , Distribuição por Idade , Idoso , Brasil/epidemiologia , Catarata/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Pterígio/etiologia , Lesões por Radiação/etnologia , Lesões por Radiação/etiologia , Distribuição por Sexo , Luz Solar/efeitos adversosRESUMO
The Yanomami are one of the last primitive groups of Indians living in Brazil. They have almost no contact with other cultures. The epidemiology of eye disease among Yanomami is virtually unknown. For the first time, a trachoma survey was conducted among Yanomami Indians in the State of Amazonas near the Venezuelan border of the Brazilian rain forest. Ophthalmic examination was carried out on a total of 613 individuals (338 males and 275 females) from eight Yanomami villages along the Maraui River located in the upper Rio Negro Basin. Age was classified into three categories (children, adults, and elderly) and trachoma was classified into five grades: follicular, inflammatory intense, cicatricial, trichiasis, and corneal opacity. Trachoma was endemic in all villages visited. Overall, 30.3% of the subjects had trachoma. Females were significantly more affected (37.4%) than males (23.9%). The inflammatory trachoma rate reached 24.9% in children and the cicatricial form increased with age, reaching 13.9% among adults and 35.21% among the elderly. Trichiasis or corneal opacities were not detected and treatment of the entire population was initiated with 1 g azithromycin. The detection of endemic trachoma among the Yanomami is relevant for the understanding of the epidemiology of this disease in the Brazilian rain forest and underscores the necessity for a program of trachoma control in this region.
Assuntos
Indígenas Sul-Americanos , Tracoma/epidemiologia , Adulto , Distribuição por Idade , Idoso , Brasil/epidemiologia , Pré-Escolar , Estudos Transversais , Doenças Endêmicas , Feminino , Humanos , Masculino , Fatores de Risco , Distribuição por Sexo , Tracoma/etnologiaRESUMO
The Yanomami are one of the last primitive groups of Indians living in Brazil. They have almost no contact with other cultures. The epidemiology of eye disease among Yanomami is virtually unknown. For the first time, a trachoma survey was conducted among Yanomami Indians in the State of Amazonas near the Venezuelan border of the Brazilian rain forest. Ophthalmic examination was carried out on a total of 613 individuals (338 males and 275 females) from eight Yanomami villages along the Marauiá River located in the upper Rio Negro Basin. Age was classified into three categories (children, adults, and elderly) and trachoma was classified into five grades: follicular, inflammatory intense, cicatricial, trichiasis, and corneal opacity. Trachoma was endemic in all villages visited. Overall, 30.3 percent of the subjects had trachoma. Females were significantly more affected (37.4 percent) than males (23.9 percent). The inflammatory trachoma rate reached 24.9 percent in children and the cicatricial form increased with age, reaching 13.9 percent among adults and 35.21 percent among the elderly. Trichiasis or corneal opacities were not detected and treatment of the entire population was initiated with 1 g azithromycin. The detection of endemic trachoma among the Yanomami is relevant for the understanding of the epidemiology of this disease in the Brazilian rain forest and underscores the necessity for a program of trachoma control in this region
Assuntos
Humanos , Pré-Escolar , Feminino , Adulto , Idoso , Indígenas Sul-Americanos , Tracoma , Distribuição por Idade , Brasil , Estudos Transversais , Doenças Endêmicas , Fatores de Risco , Distribuição por Sexo , TracomaRESUMO
Our aim was to investigate the possible involvement of nitric oxide (NO) in peripheral denervation during the acute phase of murine experimental Trypanosoma cruzi infection. Wistar male rats were infected with the Y strain of T. cruzi. One group of animals was also treated with the NO synthase inhibitor N-nitro-l-arginine. A group of uninfected animals was the control. At the 18th day of infection the animals were sacrificed. Quantification of neurons in the colon and heart and tissue parasitism in the heart was performed. Serum concentration of nitrate was measured and a histochemical technique for assessing NADPH-diaphorase activity in the colon was also performed. The infected animals presented a statistically significant decrease in the number of peripheral neurons in the colon and heart and a 2-fold increase in serum NO(3) concentration compared with controls. The animals treated with N-nitro-l-arginine showed almost an absence of NO(3) concentration in the serum and did not show loss of neurons compared with controls. These treated animals displayed a 15-fold increase in tissue parasitism compared with nontreated infected animals. The NADPH-diaphorase activity was much more intense in the muscle layers of the colon of the infected animals than in those of the controls. Taken together, these data suggest that NO is involved in the peripheral denervation observed in the acute phase of experimental T. cruzi infection.