Aparecido Divino da Cruz

[Human papillomavirus and public health: cervical cancer prevention].

The present study aimed to evaluate the applicability of an educational booklet that contained information for the general population about promotion and prevention of infections and neoplasic process caused by the human papillomavirus (HPV). The study was arranged in two phases. First, the booklet was given to 200 volunteers in the city of Goiânia, Goiás State. The applicability of the booklet was evaluated without the necessity of proving former knowledge. In the second phase, a detailed analysis of the data was made and the booklet revealed applicable. Then, the educational material was published and 2000 copies were distributed in a social event held by the Pontifícia Universidade Católica de Góias in the city of Goiânia. In the event, the booklet raised the interest of the general public and gave the volunteers a chance to participate in a study that investigated the presence of the HPV in the genital microbiote. The booklet proved to be applicable and reached its objective to inform and prevent. However, its necessary to promote and improve campaigns to the population about the HPV and its relations with the neoplasic process.

Aspectos clínico-epidemiológicos associados ao câncer de pênis

The general objective of this article is to review the current literature regarding the epidemiology, biological behavior and risk factors for penile cancer development, such as HPV infection. Phimosis and chronic irritation related to poor hygiene are commonly associated with penile cancer, whereas neonatal circumcision reduces the relative risk for the disease. There is strong evidence that HPV types 16 and 18 are associated with penile carcinoma in as many as 50% of cases. Patients with penile lesions should undergo physical examination, which is often sufficient to diagnose and to define tumor stagging, as well as contributes to decision-making regarding therapeutical approaches and case management.

Evaluating genotoxic risks in Brazilian public health agents occupationally exposed to pesticides: a multi-biomarker approach

This is the first study demonstrating genotoxic effects and whole transcriptome analysis on community health agents (CHAs) occupationally exposed to pesticides in Central Brazil. For the transcriptome analysis, we found some genes related to Alzheimer’s disease (LRP1), an insulin-like growth factor receptor (IGF2R), immunity genes (IGL family and IGJ), two genes related to inflammatory reaction (CXCL5 and CCL3), one gene related to maintenance of cellular morphology (NHS), one gene considered to be a strong apoptosis inductor (LGALS14), and several transcripts of the neuroblastoma breakpoint family (NBPF). Related to comet assay, we demonstrated a significant increase in DNA damage, measured by the olive tail moment (OTM), in the exposed group compared to the control group. Moreover, we also observed a statistically significant difference in OTM values depending on GSTM1 genotypes. Therefore, Brazilian epidemiological surveillance, an organization responsible for the assessment and management of health risks associated to pesticide exposure to CHA, needs to be more proactive and considers the implications of pesticide exposure for CHA procedures and processes.

Mutation rates in 21 autosomal short tandem repeat loci in a population from Goiás, Brazil

The appearance of new mutations in polymorphic markers plays a central role in a range of genetic applications, including dating phylogenetic events, informing disease studies, and evaluating forensic evidence. The present study estimated the mutation rates of 21 autosomal STR loci in a population from Central Brazil. We studied 15 046 paternity cases from Goiás, Brazil from August 2012 to February 2015. We identified 262 mutations in the 21 loci. The loci that presented more mutations were FGA and D18S51, with a total of 46 and 28 mutations, respectively. The results showed mutational rates ranging from 1.7 × 10−5 to 7.6 × 10−4 mutations per site/region and the overall mutational rate was 2.1 × 10−4; these values were within the expected values for the STR markers. The most common type of mutation was one‐step mutation, which totaled 96.2%. We found a higher rate of mutations of paternal origin (67.6%) than of mutations of maternal origin. The occurrence of mutations in STRs has important consequences for human identification, including the definition of criteria for exclusion in paternity testing and interpretation of genetic profiles in criminal cases.

Aconselhamento Genético: Análise e Contribuições a partir do Modelo de Aconselhamento Psicológico

O Aconselhamento Genetico (AG) constitui um processo de investigacao do diagnostico de doencas geneticas. Este estudo de caso objetivou a analise de um modelo de AG. A coleta de dados foi realizada por meio de entrevista semiestruturada e da observacao de uma sessao de AG. Os participantes foram profissionais biomedicos e a consulente de uma crianca com diagnostico de sindrome do duplo Y. Verificou-se que o AG envolve uma relacao intersubjetiva complexa. Percebeu-se, nos dois polos da relacao – profissional e consulente-familiar –, os aspectos emocionais (angustia, temor, culpas etc.) e defensivos (identificacao, racionalizacao etc.) referidos na literatura das crises vitais. A analise do processo de AG indicou: 1) dissonância entre a teoria do AG e a acao do profissional; 2) fixacao (defensiva) ao protocolo do AG; 3) uso de linguagem tecnica dificultando contato e acolhimento do consulente; e, 4) tempo de compreender considerado na dimensao cronologica e nao logico. Infere-se que os fatores afetivos (angustia, temor, culpas etc.) e a defesa psiquica (identificacao, racionalizacao) restringiram a comunicacao do diagnostico comprometendo o acolhimento e esclarecimento do contexto vital do consulente. Conclui-se que o modelo de AG poderia se enriquecer com a experiencia do modelo de aconselhamento psicologico no que se refere ao manejo de crises vitais e no trabalho em equipes multidisciplinares.

Antimutagenic, Antigenotoxic, and Anticytotoxic Activities of Silybum Marianum [L.] Gaertn Assessed by the Salmonella Mutagenicity Assay (Ames Test) and the Micronucleus Test in Mice Bone Marrow

ABSTRACT Silymarin (SM), a standardized extract from Silybum marianum (L.) Gaertn., is composed mainly of flavonolignans, and silibinin (SB) is its major active constituent. The present study aimed to evaluate the antimutagenic activities of SM and SB using the Ames mutagenicity test in Salmonella Typhimurium, as well as their anticytotoxic and antigenotoxic activities using the mouse bone marrow micronucleus test. To assess antimutagenicity, Salmonella Typhimurium strains were treated with different concentrations of SM or SB and the appropriate positive control for each strain. To assess antigenotoxicity and anticytotoxicity, Swiss mice were treated with different concentrations of SM or SB and mitomycin C (MMC). The results showed that SM was not significantly effective in reducing the number of frameshift mutations in strain TA98, while SB demonstrated significant protection at higher doses (P < 0.05). Regarding strain TA 100, SM and SB significantly decreased mutagenicity (point mutations) (P < 0.05). The results of the antigenotoxic evaluation demonstrated that SM and SB significantly reduced the frequency of micronucleated polychromatic erythrocytes (MNPCE) (P < 0.05). The results also indicated that SM and SB significantly attenuated MMC-induced cytotoxicity (P < 0.05). Based on these results, both SM and SB presented antimutagenic, antigenotoxic, and anticytotoxic actions.

Sensibilidade da PCR na amplificação do DNA bovino em diluição seriada e mistura de amostra macho e fêmea

A mixture of bovine DNA from a male and a female Jersey (Bos taurus taurus) bred in different proportions was used to determine the sensitivity of PCR to amplify and discriminate the bovine DNA samples. Samples were obtained from the peripheral blood of a bull and a heifer and DNA was isolated using a commercial kit for extraction and purification of nucleic acids. Two primers sets were designed to flank genomic regions: one autosomal and one Y-specific. DNA samples were diluted in water to a final concentration of 4x10-14 ng. The results showed positive amplification of the samples diluted to a concentration of 4x10-10ng and 4x10-4ng for the autosomal and Y-specific regions, respectively. PCR was able to discriminate the male DNA in a mixture of 99:1 (DNA ♀: DNA ♂) heifer to bull ratio. Therefore, the PCR was successful in amplifying the bovine genome in samples containing low concentrations of DNA. Thus, PCR can be used as a sensitive and efficient tool to determine the sex of the fetus in pregnant cows, helping to promote correct and efficient animal management, sex selection, and breeding in commercial herds.

Frequency of Esophageal Eosinophilia in a Pediatric Population from Central Brazil

Here we report a retrospective cross-sectional study on Esophageal eosinophilia (EsEo) frequency in Brazil, for 2, 425 pediatric patients with symptoms associated with gastroesophageal diseases in 2012. EsEo is defined by ≥15 eosinophils per high power field (400x) and confirmed through histological analyses of esophageal biopsies. Overall, 126 patients had EsEo equating to a frequency of 5.2%. There was a significant difference between the endoscopic features of patients with EsEo, where 10.7% had erosive esophagitis, 3.0% had non-erosive esophagitis and 1% showed normal esophageal mucosa. According to the interaction of the variables in the Classification and Regression Tree Analysis, most patients diagnosed with EsEo were older males with erosive esophagitis. On the other hand, the lowest frequency of EsEo was found among younger females with non-erosive esophagitis/normal mucosa. Environmental conditions, including climate variation and changes, were observed in association with EsEo, supporting a potential role for environmental factors in its pathogenesis. There was an inverse correlation between the number of EsEo, rainfall and humidity. EsEo is a relatively frequent finding in the pediatric population of Brazil with symptoms of gastroesophageal diseases. Both clinical and histological examinations of patients are important for a reliable diagnostic of EsEo cases and to patient care.

Protective Effects of Silymarin and Silibinin against DNA Damage in Human Blood Cells

Silymarin (SM), a standardized extract derived from Silybum marianum (L.) Gaertn, is primarily composed of flavonolignans, with silibinin (SB) as its major active constituent. The present study aimed to evaluate the antigenotoxic activities of SM and SB using the alkaline comet assay in whole blood cells and to assess their effects on the expression of genes associated with carcinogenesis and chemopreventive processes. Different concentrations of SM or SB (1.0, 2.5, 5.0, and 7.5 mg/ml) were used in combination with the DNA damage-inducing agent methyl methanesulfonate (MMS, 800 μM) to evaluate their genoprotective potential. To investigate the role of SM and SB in modulating gene expression, we performed quantitative real-time PCR (qRT-PCR) analysis of five genes that are known to be involved in DNA damage, carcinogenesis, and/or chemopreventive mechanisms. Treatment with SM or SB was found to significantly reduce the genotoxicity of MMS, upregulate the expression of PTEN and BCL2, and downregulate the expression of BAX and ABL1. We observed no significant changes in ETV6 expression levels following treatment with SM or SB. In conclusion, both SM and SB exerted antigenotoxic activities and modulated the expression of genes related to cell protection against DNA damage.

Standardization of capillary electrophoresis for diagnosis of fragile x syndrome in the brazilian public health system

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability. The most common etiology of the syndrome is expansion and methylation of a CGG trinucleotide at chromosome region Xq27.3 involving FMR1 (fragile X mental retardation 1 gene). This disorder is commonly underdiagnosed in children and adolescents, given the high clinical variability. In Brazil, molecular diagnosis of FXS by CE does not exist in the public health system. The current standard for separation and identification of DNA fragment sizes is 50 cm CE, which is uncommon in public genotyping laboratories. This study describes the standardization of 36 cm CE for fragment analysis of samples from patients with intellectual disability suggestive of FXS. Genomic dsDNA was isolated from patients and amplified by PCR using the FMR1 AmplideX® Kit. It was then possible to detect changes in repeat length of FMR1, such as full mutation and premutation. Thus, the proposed standardization proved to be effective for the diagnosis of FXS, permitting suitable genetic counseling for families. Inclusion of molecular testing such as this in the Brazilian public health service bridges the gap between available technologies and effective diagnosis, universalizing access to genetic testing in central Brazil.