Environmental lead poisoning among children in Porto Alegre state, Southern Brazil

OBJECTIVE: To estimate the prevalence of lead poisoning in children and to identify associated factors, as well as possible local sources of contamination. METHODS: A cross-sectional prevalence study conducted in 2006 with a random sample of 97 children age zero to five years from a neighborhood in Porto Alegre, Southern Brazil. Blood lead levels were measured and a questionnaire administered to collect information on sociodemographics, recycling and dwelling. A preliminary environmental evaluation was carried out with direct analysis of soil and indirect analysis of air pollution with bioindicators to identify possible sources of contamination. To analyze lead concentrations from the different collection sites, for each type of material studied, ANOVA was performed with a Brown-Forsythe adjustment for heteroscedasticity and with Dunnett's T3 procedure for multiple comparisons of unequal variances. RESULTS: Blood lead levels >= 10.0 mu g/dL was found in 16.5% of children. Recycling of waste at home, low father's education level, and increased age of children were associated with increase blood lead levels. High lead levels were found in soil, and there was little indication of lead air pollution. CONCLUSIONS: A high prevalence of lead poisoning was identified, and the potential sources of contamination in this community appear related to waste recylcing activities. Studies should be conducted with other populations of Brazilian children and evaluate potential sources of local and general contamination, to accurately characterize this issue in Brazil.

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential effect of geographical origin in clinical characteristics. Methods: X-ALD patients from Brazil, Argentina and Uruguay were invited to participate in molecular studies to determine their genetic status, characterize the mutations and improve the genetic counseling of their families. All samples were screened by SSCP analysis of PCR fragments, followed by automated DNA sequencing to establish the specific mutation in each family. Age at onset and at death, male phenotypes, genetic status of women, and the effect of family and of latitude of origin were also studied. Results: We identified thirty-six different mutations (twelve novel). This population had an important allelic heterogeneity, as only p. Arg518Gln was repeatedly found (three families). Four cases carried de novo mutations. Intra-familiar phenotype variability was observed in all families. Out of 87 affected males identified, 65% had the cerebral phenotype (CALD). The mean (95% CI) ages at onset and at death of the CALD were 10.9 (9.1-12.7) and 24.7 (19.8-29.6) years. No association was found between phenotypic manifestations and latitude of origin. One index-case was a girl with CALD who carried an ABCD1 mutation, and had completely skewed X inactivation. Conclusions: This study extends the spectrum of mutations in X-ALD, confirms the high rates of de novo mutations and the absence of common mutations, and suggests a possible high frequency of cerebral forms in our population.

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

Background: Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes are associated to germline TP53 mutations, and are characterized by the development of central nervous system tumors, sarcomas, adrenocortical carcinomas, and other early-onset tumors. Due to the high frequency of breast cancer in LFS/LFL families, these syndromes clinically overlap with hereditary breast cancer (HBC). Germline point mutations in BRCA1, BRCA2, and TP53 genes are associated with high risk of breast cancer. Large rearrangements involving these genes are also implicated in the HBC phenotype. Methods: We have screened DNA copy number changes by MLPA on BRCA1, BRCA2, and TP53 genes in 23 breast cancer patients with a clinical diagnosis consistent with LFS/LFL; most of these families also met the clinical criteria for other HBC syndromes. Results: We found no DNA copy number alterations in the BRCA2 and TP53 genes, but we detected in one patient a 36.4 Kb BRCA1 microdeletion, confirmed and further mapped by array-CGH, encompassing exons 9-19. Breakpoints sequencing analysis suggests that this rearrangement was mediated by flanking Alu sequences. Conclusion: This is the first description of a germline intragenic BRCA1 deletion in a breast cancer patient with a family history consistent with both LFL and HBC syndromes. Our results show that large rearrangements in these known cancer predisposition genes occur, but are not a frequent cause of cancer susceptibility.

Diet of Astyanax paranae (Characidae) in streams with different riparian land covers in the Passa-Cinco River basin, southeastern Brazil

An analysis of the diet of Astyanax paranae Eigenmann, 1914 in nine streams located in the Passa-Cinco River basin (upper Parana River system) was performed to investigate the feeding habits of this species, check for possible spatial variations in diet and to investigate the influence of riparian vegetation in the composition of the diet. Stomach contents of 243 specimens were analyzed by the methods of relative frequency of occurrence and volume, and the diet was characterized by the alimentary index (AI(i)). The species showed insectivorous feeding habits, with a predominance of terrestrial and aquatic insects in the diet, varying by location. In most streams, resources of allochthonous origin were the most consumed. The participation of aquatic insects and terrestrial plants were high in most streams, while terrestrial insects and invertebrates were highest in streams with a greater presence of riparian forest. The two streams located draining pasture fields were the only places were A. paranae consumed algae and macrophyte fragments. These results were corroborated by the analysis of similarity (ANOSIM): the descriptor "percentage of riparian forest" was the highest environmental influence on the diet of A. paranae. The study shows that riparian forest percentage on the stream reach determines the species diet composition, but A. paranae is also able to gather enough food resources in a variety of severely degraded environments.

Trauma and countertransference: development and validity of the Assessment of Countertransference Scale (ACS)

Objectives: The aim of the present study was to investigate the construct validity of the Assessment of Countertransference Scale (ACS) in the context of the trauma care, through the identification of the underlying latent constructs of the measured items and their homogeneity. Methods: ACS assesses 23 feelings of CT in three factors: closeness, rejection and indifference. ACS was applied to 50 residents in psychiatry after the first appointment with 131 victims of trauma consecutively selected during 4 years. ACS was analyzed by exploratory (EFA) and confirmatory (CFA) factor analysis, internal consistence and convergent-discriminant validity. Results: In spite of the fact that closeness items obtained the highest scores, the EFA showed that the factor rejection (24% of variance, alpha = 0.88) presented a more consistent intercorrelation of the items, followed by closeness (15% of variance, alpha = 0.82) and, a distinct factor, sadness (9% of variance, alpha = 0.72). Thus, a modified version was proposed. In the comparison between the original and the proposed version, CFA detected better goodness-of-fit indexes for the proposed version (GFI = 0.797, TLI = 0.867, CFI = 0.885 vs. GFI = 0.824, TLI = 0.904, CFI = 0.918). Conclusions: ACS is a promising instrument for assessing CT feelings, making it valid to access during the care of trauma victims.

Evaluation of Pain and Accuracy Diagnostic in Hospitalized Children

PURPOSE: Acute pain occurs in over 50% of hospitalized children. The accuracy of this diagnosis has been underexplored in the literature, as has the role of training to implement pain assessment. This study analyzed the accuracy of acute pain diagnoses after the implementation of a systematic evaluation of pain (study intervention). METHOD: The sample was divided into: pre- and postintervention. The Nursing Diagnosis Accuracy Scale, which scores accuracy as null, low, moderate, or high, was used. RESULTS: In the postimplementation, acute pain was diagnosed more often. However, accuracy only improved in the moderate category. CONCLUSION: Diagnosis of acute pain increased in the postimplementation period, but accuracy did not. IMPLICATIONS: The development of strategies for improvement of diagnostic accuracy is warranted.

A comparison between diuretics and angiotensin-receptor blocker agents in patients with stage I hypertension (PREVER-treatment trial): study protocol for a randomized double-blind controlled trial

Abstract Background Cardiovascular disease is the leading cause of death in Brazil, and hypertension is its major risk factor. The benefit of its drug treatment to prevent major cardiovascular events was consistently demonstrated. Angiotensin-receptor blockers (ARB) have been the preferential drugs in the management of hypertension worldwide, despite the absence of any consistent evidence of advantage over older agents, and the concern that they may be associated with lower renal protection and risk for cancer. Diuretics are as efficacious as other agents, are well tolerated, have longer duration of action and low cost, but have been scarcely compared with ARBs. A study comparing diuretic and ARB is therefore warranted. Methods/design This is a randomized, double-blind, clinical trial, comparing the association of chlorthalidone and amiloride with losartan as first drug option in patients aged 30 to 70 years, with stage I hypertension. The primary outcomes will be variation of blood pressure by time, adverse events and development or worsening of microalbuminuria and of left ventricular hypertrophy in the EKG. The secondary outcomes will be fatal or non-fatal cardiovascular events: myocardial infarction, stroke, heart failure, evidence of new subclinical atherosclerosis and sudden death. The study will last 18 months. The sample size will be of 1200 participants for group in order to confer enough power to test for all primary outcomes. The project was approved by the Ethics committee of each participating institution. Discussion The putative pleiotropic effects of ARB agents, particularly renal protection, have been disputed, and they have been scarcely compared with diuretics in large clinical trials, despite that they have been at least as efficacious as newer agents in managing hypertension. Even if the null hypothesis is not rejected, the information will be useful for health care policy to treat hypertension in Brazil. Clinical trials registration number ClinicalTrials.gov: NCT00971165

Association of genetic variants in the promoter region of genes encoding p22phox (CYBA) and glutamate cysteine ligase catalytic subunit (GCLC) and renal disease in patients with type 1 diabetes mellitus

Background Oxidative stress is recognized as a major pathogenic factor of cellular damage caused by hyperglycemia. NOX/NADPH oxidases generate reactive oxygen species and NOX1, NOX2 and NOX4 isoforms are expressed in kidney and require association with subunit p22phox (encoded by the CYBA gene). Increased expression of p22phox was described in animal models of diabetic nephropathy. In the opposite direction, glutathione is one of the main endogenous antioxidants whose plasmatic concentrations were reported to be reduced in diabetes patients. The aim of the present investigation was to test whether functional single nucleotide polymorphisms (SNPs) in genes involved in the generation of NADPH-dependent O2•- (-675 T → A in CYBA, unregistered) and in glutathione metabolism (-129 C → T in GCLC [rs17883901] and -65 T → C in GPX3 [rs8177412]) confer susceptibility to renal disease in type 1 diabetes patients. Methods 401 patients were sorted into two groups according to the presence (n = 104) or absence (n = 196) of overt diabetic nephropathy or according to glomerular filtration rate (GFR) estimated by Modification of Diet in Renal Disease (MDRD) equation: ≥ 60 mL (n = 265) or < 60 mL/min/1.73 m2 (n = 136) and were genotyped. Results No differences were found in the frequency of genotypes between diabetic and non-diabetic subjects. The frequency of GFR < 60 mL/min was significantly lower in the group of patients carrying CYBA genotypes T/A+A/A (18.7%) than in the group carrying the T/T genotype (35.3%) (P = 0.0143) and the frequency of GFR < 60 mL/min was significantly higher in the group of patients carrying GCLC genotypes C/T+T/T (47.1%) than in the group carrying the C/C genotype (31.1%) (p = 0.0082). Logistic regression analysis identified the presence of at least one A allele of the CYBA SNP as an independent protection factor against decreased GFR (OR = 0.38, CI95% 0.14-0.88, p = 0.0354) and the presence of at least one T allele of the GCLC rs17883901 SNP as an independent risk factor for decreased GFR (OR = 2.40, CI95% 1.27-4.56, p = 0.0068). Conclusions The functional SNPs CYBA -675 T → A and GCLC rs17883901, probably associated with cellular redox imbalances, modulate the risk for renal disease in the studied population of type 1 diabetes patients and require validation in additional cohorts.

Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome

About 5-10% of breast and ovarian carcinomas are hereditary and most of these result from germline mutations in the BRCA1 and BRCA2 genes. In women of Ashkenazi Jewish ascendance, up to 30% of breast and ovarian carcinomas may be attributable to mutations in these genes, where 3 founder mutations, c.68_69del (185delAG) and c.5266dup (5382insC) in BRCA1 and c.5946del (6174delT) in BRCA2, are commonly encountered. It has been suggested by some authors that screening for founder mutations should be undertaken in all Brazilian women with breast cancer. Thus, the goal of this study was to determine the prevalence of three founder mutations, commonly identified in Ashkenazi individuals in a sample of non-Ashkenazi cancer-affected Brazilian women with clearly defined risk factors for hereditary breast and ovarian cancer (HBOC) syndrome. Among 137 unrelated Brazilian women from HBOC families, the BRCA1c.5266dup mutation was identified in seven individuals (5%). This prevalence is similar to that encountered in non-Ashkenazi HBOC families in other populations. However, among patients with bilateral breast cancer, the frequency of c.5266dup was significantly higher when compared to patients with unilateral breast tumors (12.1% vs 1.2%, p = 0.023). The BRCA1 c.68_69del and BRCA2 c.5946del mutations did not occur in this sample. We conclude that screening non-Ashkenazi breast cancer-affected women from the ethnically heterogeneous Brazilian populations for the BRCA1 c.68_69del and BRCA2 c.5946del is not justified, and that screening for BRCA1c.5266dup should be considered in high risk patients, given its prevalence as a single mutation. In high-risk patients, a negative screening result should always be followed by comprehensive BRCA gene testing. The finding of a significantly higher frequency of BRCA1 c.5266dup in women with bilateral breast cancer, as well as existence of other as yet unidentified founder mutations in this population, should be further assessed in a larger well characterized high-risk cohort.

Estudo epidemiológico de queimaduras em crianças atendidas em hospital terciário na cidade de São Paulo

INTRODUÇÃO: O objetivo deste estudo é descrever a experiência da Unidade de Tratamento de Queimados da Divisão de Cirurgia Plástica do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), em 15 meses consecutivos, no atendimento às crianças queimadas. MÉTODO: Foram analisados os dados de 98 pacientes, com idade < 13 anos, atendidos na Unidade de Tratamento de Queimados do HCFMUSP, de outubro de 2009 a dezembro de 2010. RESULTADOS: A média de idade das crianças atendidas foi de 5,2 anos, sendo 67 (68,4%) do sexo masculino. Os acidentes foram responsáveis por 93 (94,9%) casos, enquanto em 1 (1%) caso ocorreu agressão. Observou-se maior ocorrência de queimaduras em crianças com até 2 anos de idade. O principal agente da queimadura foi escaldadura (48%), seguido de fogo (17%) e sólido aquecido (17%). A média da superfície corpórea queimada de 2º e 3º graus foi de 10%. Seis (6,1%) pacientes apresentaram > 20% da superfície corpórea queimada, 5 (83,3%) deles por combustão de álcool e 1 (16,7%) por escaldo com água. Entre os 3 casos em que a superfície corpórea queimada de 2º e 3º graus foi > 30%, todos ocorreram por combustão de álcool. CONCLUSÕES: O levantamento demonstra a importância da queimadura em pacientes da faixa etária pediátrica. O conjunto de dados obtidos permite inferir que os esforços de prevenção devem se concentrar no ambiente doméstico, contra a possibilidade de ocorrência de escaldaduras nas crianças com < 5 anos de idade. A partir dos 5 anos, as campanhas devem abordar tanto o ambiente doméstico como o extradoméstico.

Dental caries associated factors in 12 year-old schoolchildren from a municipality in the state of São Paulo, Brazil

Objective To analyze the possible association between dental caries, fluorosis and the need for treatment in 12 year-old schoolchildren and the socioeconomic conditions of parents/guardians in the city of Franca, in the state of São Paulo. Methods A random sample of schoolchildren aged 12 was obtained from the school records in Franca, using a systematic random technique. The epidemiological survey was carried out by a single calibrated examiner, on 258 public and private schoolchildren in order to obtain the prevalence of dental caries, the need for treatment and the severity of dental fluorosis. Parents/guardians were also interviewed to assess their socioeconomic conditions (education and per capita income). We used multiple correlation analysis to investigate associations between category variables. Results It was possible to identify two distinct groups, with associations between the variables: the first group, represented by schoolchildren with average prevalence of caries, need for treatment, low level of parental education and income; and a second group represented by schoolchildren with low prevalence of caries, no need for treatment, high parental education and income. The two dimensions explained approximately 35% of total inertia. The factors within each group are related. Conclusion High income and parental education are associated with the low prevalence of dental caries but there is no association with dental fluorosis.