Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter.

Deletions in the short arm of chromosome 12 are the rarest subtelomeric imbalances. Less than 20 patients have been reported to date, and their microdeletions were identified either by FISH or array-CGH without SNP data. Here, we report a patient with a 12p13.32pter mosaic deletion detected by chromosome microarray analysis with loss of heterozygosity (LOH) of the deleted segment in addition to the adjacent distal segment. LOH is indicative of a complex rearrangement, suggestive of mitotic microhomology-mediated break-induced replication.

Selection of autochthonous lactic acid bacteria from goat dairies and their addition to evaluate the inhibition of Salmonella typhi in artisanal cheese.

This study aimed to select autochthonous lactic acid bacteria (LAB) with probiotic and functional properties from goat dairies and test their addition to artisanal cheese for the inhibition of Salmonella typhi. In vitro tests, including survival in the gastrointestinal tract (GIT), auto- and co-aggregation, the hemolytic test, DNase activity, antimicrobial susceptibility, antibacterial activity, tolerance to NaCl and exopolysaccharide (EPS), gas and diacetyl production were conducted for sixty isolates. Based on these tests, four LAB isolates (UNIVASF CAP 16, 45, 84 and 279) were selected and identified. Additional tests, such as production of lactic and citric acids by UNIVASF CAP isolates were performed in addition to assays of bile salt hydrolase (BSH), ß-galactosidase and decarboxylase activity. The four selected LAB produced high lactic acid (>17 g/L) and low citric acid (0.2 g/L) concentrations. All selected strains showed BSH and ß-galactosidase activity and none showed decarboxylase activity. Three goat cheeses (1, 2 and control) were produced and evaluated for the inhibitory action of selected LAB against Salmonella typhi. The cheese inoculated with LAB (cheese 2) decreased 0.38 log10 CFU/g of S. Typhy population while in the cheese without LAB inoculation (cheese 1) the pathogen population increased by 0.29 log units. Further, the pH value increased linearly over time, by 0.004 units per day in cheese 1. In the cheese 2, the pH value decreased linearly over time, by 0.066 units per day. The cocktail containing selected Lactobacillus strains with potential probiotic and technological properties showed antibacterial activity against S. typhi in vitro and in artisanal goat cheese. Thus, goat milk is important source of potential probiotic LAB which may be used to inhibit the growth of Salmonella population in cheese goat, contributing to safety and functional value of the product.

Craniofacial and dental features in kabuki syndrome patients.

Objective : To describe oral manifestations in Brazilian individuals with Kabuki syndrome, a multiple congenital anomaly/mental retardation syndrome. Study Design : A total of 16 Kabuki syndrome individuals, aged between 8 to 24 years and of both sexes, were referred by the Department of Clinical Genetics for oral treatment and follow-up to the Oral Care Center for Inherited Diseases, University Hospital of Brasília, Brasília, Brazil. Each individual underwent complete physical examination, as well as intraoral and radiographic examinations. Results : Craniofacial and dental alterations were observed in all Kabuki syndrome patients examined. In addition, atypical shape of the molars' crowns, occlusal convergence of the premolars' crowns, and root dilaceration were also observed. Enamel diffuse opacities were observed in permanent dentition (n  =  10). Conclusion : A great clinical heterogeneity was observed in Kabuki syndrome individuals in line with previous studies in the literature. Further clinical and molecular studies are necessary in order to better understand the presence of dental anomalies in this syndrome.

Does celiac disease occur in Afro-derived Brazilian populations?

BACKGROUND: Celiac disease is an autoimmune disorder that occurs in genetically susceptible individuals in whom the ingestion of dietary gluten induces intestinal mucosa inflammation. Previous studies suggest that celiac disease may either be very rare or underdiagnosed in African and/or African-derived population. AIM: Determine the prevalence of celiac disease in Sub-Saharan African-derived Brazilian communities using serological screening. SUBJECTS AND METHODS: Inhabitants from 10 African-derived communities from Northeastern of Brazil were screened for celiac disease. All sera were tested for endomysial class IgA antibody using indirect immunofluorescence. RESULTS: No positive test for IgA-endomysial was observed in the 860 individuals tested. CONCLUSION: Our data suggests a low prevalence of celiac disease in African-derived Brazilian populations.

Genotoxic effects of white fluorescent light on human lymphocytes in vitro.

Sources of light beams such as white fluorescent light, are present in our daily life to meet the needs of life in the modern world. This study was conducted with the objective of determining the possible genotoxic, cytotoxic and aneugenic effects caused by this agent in different stages of the cell cycle (G0/early G1, S, and late G2), using different cytogenetic parameters (sister chromatid exchanges--SCE, chromosome aberrations--CA, and detection of aneugenic effects) in lymphocytes from temporary cultures of human peripheral blood. WFL showed a genotoxic effect in vitro, expressed by an increase in the frequency of SCE's, regardless of the cell cycle stage. However, no increase in the frequency of CAs was observed. In addition, disturbances in cell cycle kinetics and chromosomal segregation were also observed. Taken together, such data may contribute to a better understanding and a different management in the use of phototherapy for some pathological conditions.

GATA1 mutations in acute leukemia in children with Down syndrome.

It has been reported that somatic mutations in the X-linked GATA1 gene are present in hematological clonal disorders in children with Down syndrome (DS). We analyzed retrospective samples of DS children with acute myeloid leukemia, transient leukemia (TL), and myelodysplastic syndrome (MDS) to test whether the specificity of GATA1 mutations can be helpful in distinguishing these hematopoietic disorders. A total of 49 samples were subjected to GATA1 mutation screening by direct sequencing and denaturing polyacrylamide gel electrophoresis (PAGE). Mutations in exon 2 of GATA1 were detected in six of eight DS-AML M7 samples and in four of six DS-TL; no mutation was detected in 13 children with acute lymphoblastic leukemia (DS-ALL), 6 with DS-AML (M0, M2, and M5), 6 with DS-MDS and in 8 DS infants without hematological disorders and 2 children with AML M7 without DS. Blast cells proportion in the sample represented a critical aspect on the sensitivity of mutation detection in GATA1, and a combination of sequence analysis and PAGE is necessary to detect mutations when blast percentage is low. The absence of detected mutations in any of the DS-MDS cases raises the question whether MDS in DS children is an intermediate stage between TL and AML M7, as previously suggested.

Partial 1q Duplications and Associated Phenotype.

Duplications of the long arm of chromosome 1 are rare. Distal duplications are the most common and have been reported as either pure trisomy or unbalanced translocations. The paucity of cases with pure distal 1q duplications has made it difficult to delineate a partial distal trisomy 1q syndrome. Here, we report 2 patients with overlapping 1q duplications detected by G-banding. Array CGH and FISH were performed to characterize the duplicated segments, exclude the involvement of other chromosomes and determine the orientation of the duplication. Patient 1 presents with a mild phenotype and carries a 22.5-Mb 1q41q43 duplication. Patient 2 presents with a pure 1q42.13qter inverted duplication of 21.5 Mb, one of the smallest distal 1q duplications ever described and one of the few cases characterized by array CGH, thus contributing to a better characterization of distal 1q duplication syndrome.

Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations.

In order to assess the molecular variability related to fragile X (FMR1 locus), we investigated the distribution of CGG repeats and DXS548/FRAXAC1 haplotypes in normal South American populations of different ethnic backgrounds. Special attention was given to Amerindian Wai-Wai (Northern Brazil) and Ache (Paraguay), as well as to Brazilian isolated communities of African ancestry, the remnants of quilombos. Comparison of samples from quilombos, Amerindians, and the ethnically mixed, but mainly European-derived population of São Paulo revealed that the 30-copy allele of the fragile X gene is the most frequent in all groups. A second peak at 20 repeats was present in the population of São Paulo only, confirming this as a European peculiarity. The distribution of DXS548 and FRAXAC1 alleles led to a high expected heterozygosity in African Brazilians, followed by that observed in the population of São Paulo. Amerindians showed the lowest diversity in CGG repeats and DXS548/FRAXAC1 haplotypes. Some rare alleles, for example, the 148-bp (FRAXAC1) or 200-bp (DXS548) variants, which seem to be almost absent in Europe, occurred in higher frequencies among African Brazilians. This suggests a general trend for higher genetic diversity among Africans; these rarer alleles could be African in origin and would have been lost or possibly were not present in the groups that gave rise to the Europeans.

Evaluation of genotoxic and cytotoxic potential of thiola (N-2-mercaptopropionylglycine), a medicine used in the treatment of humans contaminated with mercury.

In Brazil, environmental contamination by mercury occurs mainly as a result of gold mining activities, especially in the Amazon region. In this area, human contamination results mainly from consumption of fish. Treatment of current symptoms of acute or chronic mercury contamination is normally carried out by increasing its excretion through metal scavenger compounds. In Japan, human contamination by mercury, which causes Minamata disease, has been successfully treated by the metal scavenger thiola (N-2 mercaptopropionylglycine). Its effects are based on its capacity to couple with the metal, facilitating its excretion. The possible clastogenic or anticlastogenic effect of thiola was evaluated by the in vivo micronucleus study in bone marrow erythrocytes of mice and also in human lymphocytes in vitro through chromosomal aberration analysis. In both experiments, different concentrations of thiola were used. Treatments with bleomycin (BLM), cyclophosphamide (CP), and also treatments combining these drugs with thiola were carried out with the purpose of studying the anticlastogenicity of thiola, considering its antioxidant properties. Thiola did not induce a significant increase in the micronucleus frequency in polychromatic erythrocytes of mice nor show any protective effect on the damage caused by bleomycin and cyclophosphamide in these cells. At a high dose, thiola showed a cytotoxic effect, significantly decreasing the relative proportion of polychromatic erythrocytes. In human lymphocytes, the tested drug did not increase the frequency of chromosomal aberration and also did not have any protective effect on the damage caused by BLM and CP.

Differential susceptibility to chromatid breaks induced by bleomycin in sub-fertile and fertile bovines.

The rate of chromatid breaks was studied in cows with a history of sub-fertility by means of a test based on measurement of the average of breaks induced in lymphocytes of peripheral blood cultures. Fourteen female specimens were divided into two groups: fertile and sub-fertile. Peripheral blood lymphocytes were cultured and prepared for cytogenetic analysis. Two types of culture were established for each animal to evaluate the response of peripheral blood lymphocyte cultures to the genotoxic effects of bleomycin. The first culture did not receive bleomycin treatment (spontaneous chromosome aberrations). Our results showed that median breaks per cell (b/c) (+/-semirange) for spontaneous culture of the fertile and sub-fertile animals and bleomycin sensitivity assay for fertile and sub-fertile animals were 0.00+/-0.06, 0.02+/-0.03, 0.08+/-0.05 and 0.22+/-0.09, respectively. There was no significant difference (P>0.05) in the chromosomal breakage in lymphocytes not exposed to bleomycin; however, in comparing the number of chromatid breaks per cell in cultures treated with bleomycin, the sub-fertile group showed a significantly higher (P<0.05) level than the fertile group. These findings have implications both for identifying cattle with less than optimum fertility as well as for providing potential avenues to study the origins of sub-fertility.

Occurrence of familial Meniere's syndrome and migraine in Brasília.

Since 1941, many families with several members affected by Meniere's syndrome have been described. "Migraine-like" headache was always mentioned. In 1997, we described a large family with Meniere's syndrome and migraine, both transmitted in an autosomal dominant mode. Recently, a gene that could be responsible for Meniere's symptoms has been identified. However, the incidence of familial Meniere's syndrome is still unknown. A. W. Morrison et al estimated this incidence as between 2.9% and 12%. During the years 1997 and 1998, we saw 8 new patients with typical Meniere's syndrome in our outpatient department. They were referred to Dr Messias, who did a careful search for other affected family members. Six of them had relatives with Meniere's syndrome and migraine transmitted in an autosomal dominant mode. The familial incidence of Meniere's syndrome and migraine in Brasília seems to be higher than the figures of Morrison et al for the United Kingdom. The 6 families are described herein.

Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).

Genetic defects resulting in deficiency of thyroid hormone synthesis can be found in about 10% of the patients with permanent congenital hypothyroidism, but the identification of genetic abnormalities in association with the transient form of the disease is extremely rare. We report the case of a boy with transient neonatal hypothyroidism that was undiagnosed in the neonatal screening, associated with extrathyroid malformations and mental retardation. The boy carries an unbalanced translocation t(8;16), and his maternal uncle had a similar phenotype. Chromosomal analysis defined the patient's karyotype as 46,XY,der(8)t(8;16)(q24.3;q22)mat,16qh+. Array-CGH with patient's DNA revealed a ~80 kb terminal deletion on chromosome 8q24.3qter, and a ~21 Mb duplication on chromosome 16q22qter. ZNF252 gene, mapped to the deleted region on patient's chromosome 8, is highly expressed in the thyroid, and may be a candidate gene for our patient's transient neonatal thyroid dysfunction. This is the first report on the association of a chromosomal translocation with the transient form of congenital hypothyroidism. This description creates new hypothesis for the physiopathology of transient congenital hypothyroidism, and may also contribute to the definition of the unbalanced translocation t(8;16)(q24.3;q22) phenotype, which has never been described before.

Microbiological and physical-chemical profile of goat milk in the semiarid region of the San Francisco valley / Perfil microbiológico e físico-químico do leite caprino na região semiárida do vale do São Francisco

In Brazil, the largest goat herd is in the Northeast, especially in Bahia and Pernambuco, which are the first and second states in number of goats. The semiarid region of San Francisco Valley still lacks studies on determination of parameters for the goat milk produced. The aim of this study was to characterize the microbiological and physical-chemical profile of goat milk produced in the semiarid region of the San Francisco Valley in accordance with current legislation. Forty-two samples of goat milk were obtained from six municipalities in the semiarid region of the San Francisco Valley (Juazeiro, Uauá, Senhor do Bonfim, Curaçá, Jaguarari and Petrolina), with seven samples per municipality, and the microbiological and physical-chemical parameters were analyzed. The microbiological analyses were Total Aerobic Mesophilic Bacteria (TAMB) and Lactic Acid Bacteria (LAB) counts, enumeration of total and thermotolerant coliforms and Escherichia coli research. Indirect measurement of Somatic Cell Count (SCC) was also performed. The physical-chemical tests performed were acidity, Freezing Point Depression (FDP) and quantitative determination of fat by the Gerber method. There were significant differences for microbiological analyses in the cities studied. In the samples, LAB was predominant among the microorganisms examined and E. coli was detected in all municipalities. For physicalchemical parameters, there was no significant difference only for FDP. The microbiological and physical-chemical characteristics were markedly separate by Principal Component Analysis (PCA). The cities of Petrolina and Juazeiro were characterised by greater quantification of fat and indirect SCC, respectively. In Uauá, Curaçá, Jaguarari and Senhor do Bonfim, the parameters for total coliforms, FDP, E. coli and acidity stood out, respectively. The microbiological results are indicative of the need for hygienic practices during milking to obtain better milk quality.(AU)

No Brasil, o maior rebanho de caprinos encontra-se no nordeste, com destaque para Bahia e Pernambuco, no qual são a primeira e segunda Unidade de Federação com o maior efetivo de caprinos. A região semiárida do Vale do São Francisco ainda é carente de estudos para fixar parâmetros para o leite caprino produzido. O objetivo deste trabalho foi caracterizar o perfil microbiológico e físicoquímico do leite caprino produzido na região semiárida do Vale do São Francisco em acordo com a legislação No Brasil, o maior rebanho de caprinos encontra-se no nordeste, com destaque para Bahia e Pernambuco, no qual são a primeira e segunda Unidade de Federação com o maior efetivo de caprinos. A região semiárida do Vale do São Francisco ainda é carente de estudos para fixar parâmetros para o leite caprino produzido. O objetivo deste trabalho foi caracterizar o perfil microbiológico e físicoquímico do leite caprino produzido na região semiárida do Vale do São Francisco em acordo com a legislação Petrolina e Juazeiro foram caracterizadas pela maior quantificação da gordura e contagem indireta de células somáticas, respectivamente. Em Uauá, Curaçá, Jaguarari e Senhor do Bonfim destacaram-se os parâmetros: coliformes totais, FDP, E. coli e acidez, respectivamente. Os resultados microbiológicos são indicativos da necessidade de uma melhor prática higiênica durante a ordenha para a obtenção de um leite de melhor qualidade.(AU)

Microbiological and physical-chemical profile of goat milk in the semiarid region of the San Francisco valley / Perfil microbiológico e físico-químico do leite caprino na região semiárida do vale do São Francisco

In Brazil, the largest goat herd is in the Northeast, especially in Bahia and Pernambuco, which are the first and second states in number of goats. The semiarid region of San Francisco Valley still lacks studies on determination of parameters for the goat milk produced. The aim of this study was to characterize the microbiological and physical-chemical profile of goat milk produced in the semiarid region of the San Francisco Valley in accordance with current legislation. Forty-two samples of goat milk were obtained from six municipalities in the semiarid region of the San Francisco Valley (Juazeiro, Uauá, Senhor do Bonfim, Curaçá, Jaguarari and Petrolina), with seven samples per municipality, and the microbiological and physical-chemical parameters were analyzed. The microbiological analyses were Total Aerobic Mesophilic Bacteria (TAMB) and Lactic Acid Bacteria (LAB) counts, enumeration of total and thermotolerant coliforms and Escherichia coli research. Indirect measurement of Somatic Cell Count (SCC) was also performed. The physical-chemical tests performed were acidity, Freezing Point Depression (FDP) and quantitative determination of fat by the Gerber method. There were significant differences for microbiological analyses in the cities studied. In the samples, LAB was predominant among the microorganisms examined and E. coli was detected in all municipalities. For physicalchemical parameters, there was no significant difference only for FDP. The microbiological and physical-chemical characteristics were markedly separate by Principal Component Analysis (PCA). The cities of Petrolina and Juazeiro were characterised by greater quantification of fat and indirect SCC, respectively. In Uauá, Curaçá, Jaguarari and Senhor do Bonfim, the parameters for total coliforms, FDP, E. coli and acidity stood out, respectively. The microbiological results are indicative of the need for hygienic practices during milking to obtain better milk quality.

No Brasil, o maior rebanho de caprinos encontra-se no nordeste, com destaque para Bahia e Pernambuco, no qual são a primeira e segunda Unidade de Federação com o maior efetivo de caprinos. A região semiárida do Vale do São Francisco ainda é carente de estudos para fixar parâmetros para o leite caprino produzido. O objetivo deste trabalho foi caracterizar o perfil microbiológico e físicoquímico do leite caprino produzido na região semiárida do Vale do São Francisco em acordo com a legislação No Brasil, o maior rebanho de caprinos encontra-se no nordeste, com destaque para Bahia e Pernambuco, no qual são a primeira e segunda Unidade de Federação com o maior efetivo de caprinos. A região semiárida do Vale do São Francisco ainda é carente de estudos para fixar parâmetros para o leite caprino produzido. O objetivo deste trabalho foi caracterizar o perfil microbiológico e físicoquímico do leite caprino produzido na região semiárida do Vale do São Francisco em acordo com a legislação Petrolina e Juazeiro foram caracterizadas pela maior quantificação da gordura e contagem indireta de células somáticas, respectivamente. Em Uauá, Curaçá, Jaguarari e Senhor do Bonfim destacaram-se os parâmetros: coliformes totais, FDP, E. coli e acidez, respectivamente. Os resultados microbiológicos são indicativos da necessidade de uma melhor prática higiênica durante a ordenha para a obtenção de um leite de melhor qualidade.

Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16) / Hipotireoidismo neonatal transitório em um menino com translocação não balanceada t(8;16)

Genetic defects resulting in deficiency of thyroid hormone synthesis can be found in about 10% of the patients with permanent congenital hypothyroidism, but the identification of genetic abnormalities in association with the transient form of the disease is extremely rare. We report the case of a boy with transient neonatal hypothyroidism that was undiagnosed in the neonatal screening, associated with extrathyroid malformations and mental retardation. The boy carries an unbalanced translocation t(8;16), and his maternal uncle had a similar phenotype. Chromosomal analysis defined the patient's karyotype as 46,XY,der(8)t(8;16)(q24.3;q22)mat,16qh+. Array-CGH with patient's DNA revealed a ~80 kb terminal deletion on chromosome 8q24.3qter, and a ~21 Mb duplication on chromosome 16q22qter. ZNF252 gene, mapped to the deleted region on patient's chromosome 8, is highly expressed in the thyroid, and may be a candidate gene for our patient's transient neonatal thyroid dysfunction. This is the first report on the association of a chromosomal translocation with the transient form of congenital hypothyroidism. This description creates new hypothesis for the physiopathology of transient congenital hypothyroidism, and may also contribute to the definition of the unbalanced translocation t(8;16)(q24.3;q22) phenotype, which has never been described before. Arq Bras Endocrinol Metab. 2012;56(8):564-9.

Defeitos genéticos resultando em deficiência hormonal tireoidiana podem ser encontrados em cerca de 10% dos pacientes com hipotireoidismo congênito permanente, porém a identificação de anormalidades genéticas associadas à forma transitória da doença é extremamente rara. Relatamos o caso de um menino com hipotireoidismo neonatal transitório não diagnosticado no teste de triagem neonatal, associado a malformações extratireoidianas e retardo mental. O paciente é portador de translocação não balanceada t(8;16), e seu tio materno tinha fenótipo similar. A análise cromossômica definiu o cariótipo do paciente como 46,XY,der(8)t(8;16)(q24.3;q22)mat,16qh+. A análise cromossômica array-CGH com o DNA do paciente revelou deleção terminal de ~80 kb no cromossomo 8q24.3qter, e duplicação de ~21 Mb no cromossomo 16q22qter. O gene ZNF252, mapeado na região da deleção no cromossomo 8 do paciente, é altamente expresso na tireoide e pode ser um gene candidato no hipotireoidismo neonatal transitório do paciente. Esse é o primeiro relato de associação de uma translocação cromossômica com a forma transitória do hipotireoidismo congênito. Essa descrição descortina novas hipóteses para a fisiopatologia do hipotireoidismo congênito transitório e também pode contribuir para a definição do fenótipo da translocação não balanceada t(8;16)(q24.3;q22), nunca descrito anteriormente. Arq Bras Endocrinol Metab. 2012;56(8):564-9.

Fish consumption (hair mercury) and nutritional status of Amazonian Amer-Indian children.

Fish are abundant and important dietary items for the Amer-Indians, and total hair-Hg (HHg) concentration is a reliable marker of fish consumption. We studied the impact of fish consumption (HHg) on the nutritional status of Indian children of Eastern Amazonia. Weight-for-height Z score (WHZ) was measured, and HHg was determined in 203 children younger than 10 years of age in three villages. There was significantly higher fish consumption in Kayabi children (16.55 microg Hg/g; SD, 11.44) than in children of the Munduruku villages of Missão-Cururu (4.76 microg Hg/g; SD, 2.09) and Kaburua (2.87 microg Hg/g; SD, 2.13). Anthropometric indices showed WHZ means of -0.27, -0.22, and 0.40, respectively, for Kayabi, Missão-Cururu and Kaburua villages. Despite a different pattern of fish-protein consumption between tribes, there was no significant correlation between WHZ and HHg concentrations (r2 = 0.0079; P < 0.2021). Dietary differences among Amazonian tribes can be traced and used in measuring health outcomes. Higher fish consumption, although important for Kayabis, was compensated by other protein sources by the Kaburua villagers.

Hair mercury (signature of fish consumption) and cardiovascular risk in Munduruku and Kayabi Indians of Amazonia.

Fish is an important natural resource in the diet of inhabitants of the Amazon rain forest and a marker of its consumption (hair Hg) was used to compare selected cardiovascular risk parameters between tribes of Eastern Amazonia. Three Munduruku (Terra Preta, Kaburua, Cururu) villages and one Kayabi village at the banks of head rivers (Tapajos, Tropas, Kabitutu, Cururu, Curuzinho, Teles Pires) of the Tapajos Basin were studied in relation to fish Hg concentrations, mercury in hair (fish consumption) and erythrocytes, body mass index (height/weight, kg/cm2), and blood pressure. The mean fish Hg concentrations were higher in predatory (578.6 ng/g) than in nonpredatory species (52.8 ng/g). Overall only 26% of fish Hg concentrations were above 500 ng/g, and only 11% were above 1000 ng/g. There was no systematic trend in fish Hg concentrations from rivers with a history of gold-mining activities. The biomarker of fish consumption (hair Hg) was significantly associated with erythrocyte-Hg (r=0.5181; P=0.0001) and was significantly higher in Kayabi (12.7 microg/g) than in the Munduruku (3.4 microg/g). Biomarker-assessed fish consumption rate was higher in the Kayabi (110 g/day) than in the Munduruku villages (30 g/day). Although no significant differences in body mass index (BMI) were observed between tribes, there was a trend of lower increase in blood pressure with age among the higher fish consumers (Kayabi). Summary clinical evaluation did not detect neurologic complaints compatible with Hg intoxication (paraparesis, numbness, tremor, balancing failure), but endemic tropical diseases such as clinical history of malaria showed a high prevalence (55.4%). Fish is an abundant natural resource, important in the Indian diet, that has been historically consumed without perceived problems and can easily be traced through hair Hg. The exposure to freshwater fish monomethyl mercury is less of an issue than endemic infectious diseases such as malaria and lack of basic medical services.