Abstract Evidence indicates that oral microbiota plays a crucial role in human health and disease. For instance, diseases with multifactorial etiology, such as periodontitis and caries, which cause a detrimental impact on human well-being and health, can be caused by alterations in the host-microbiota interactions, where non-pathogenic bacteria give way to pathogenic orange/red-complex bacterial species (a change from a eubiotic to dysbiotic state). In this scenario, where thousands of oral microorganisms, including fungi, archaea, and phage species, and their host are co-evolving, a set of phenomena, such as the arms race and Red or Black Queen dynamics, are expected to operate. We review concepts on the subject and revisit the nature of bacterial complexes linked to oral health and diseases, as well as the problem of the bacterial resistome in the face of the use of antibiotics and what is the impact of this on the evolutionary trajectory of the members of this symbiotic ecosystem. We constructed a 16SrRNA tree to show that adaptive consortia of oral bacterial complexes do not necessarily rescue phylogenetic relationships. Finally, we remember that oral health is not exempt from health disparity trends in some populations, such as Native Americans, when compared with non-Indigenous people.

Resumen Introducción: el virus chikunugnya ya se ha identificado en más de 60 países de Asia, África, Europa y América, y la cronicidad después de la enfermedad afecta la vida de los afectados por el virus, así como la sociedad, la economía y la salud pública. El objetivo fue caracterizar, mediante encuestas epidemiológicas, el perfil de la infección por chikungunya en un municipio de tamaño medio en Mato Grosso de acuerdo con factores sociodemográficos y sanitarios. Métodos: La encuesta epidemiológica en suero se realizó con 596 adultos de ≥ 18 años seleccionados mediante un proceso de muestreo por conglomerados, con aplicación de cuestionarios y recolección de material biológico. Los casos positivos de fiebre chikungunya fueron aquellos con resultados positivos en el inmunoensayo enzimático del virus anti-chikungunya (ELISA). Los análisis estadísticos utilizaron técnicas descriptivas e inferenciales con intervalos de confianza del 95% y un nivel de significación del 5%. Resultados: La prevalencia general de fiebre chikungunya encontrada en la comunidad fue de 8.4%. El perfil de infección por fiebre chikungunya está compuesto por mujeres (p <0.204), con edades comprendidas entre 18 y 39 años (p <0.780), más de 08 años de estudio (p <0.079), raza/color no blanco (p <0.871) y empleado en los últimos 12 meses (p <0.927). No residir con compañero afectivo fue estadísticamente significativo para la infección por el virus chikungunya (CHIKV) (p <0.028). Conclusión: El estudio encontró que las mujeres son las más afectadas por la infección, además de ser solteras representaban un factor de riesgo, y los comportamientos de riesgo, como la presencia de larvas y la cría de mosquitos en el hogar, reflejan un bajo nivel de conciencia de la enfermedad.

Abstract Introduction: The chikungunya virus has already been identified in more than 60 countries in Asia, Africa, Europe and the Americas, and chronicity after the disease impacts the lives of those affected by the virus, as well as society, the economy and public health. The objective was to characterize, through epidemiological survey, the profile of chikungunya infection in a mid-sized municipality in Mato Grosso according to sociodemographic and sanitary factors. Methods: The serum-epidemiological survey was conducted with 596 adults aged ≥ 18 years selected by cluster sampling process, with application of questionnaires and biological material collection. Positive cases of chikungunya fever were those with positive results in the anti-chikungunya virus enzyme immunoassay (ELISA). The statistical analyses used descriptive and inferential techniques with confidence intervals of 95% and a significance level of 5%. Results: The overall prevalence of chikungunya fever found in the community was 8.4%. The profile of infection by chikungunya fever is composed of women (p<0.204), aged between 18 and 39 years (p<0.780), more than 08 years of study (p<0.079), non-white reported race/color p<0.871) and employed in the past 12 months (p<0.927). Not residing with affective companion was statistically significant for infection by chikungunya virus (CHIKV) (p<0.028). Conclusion: The study found that women are the most affected by the infection, as well as being single represented a risk factor, and risk behaviors, such as presence of larvae and breeding of mosquitos at home, reflect a low level of awareness of the disease.

Objective. Propose a list of congenital anomalies with corresponding codes in the tenth revision of the International Classification of Diseases (ICD), aiming at application in the scope of health surveillance. Methods. In December 2019, the following sources were searched: ICD-10, ICD-11, abnormalities monitored by three surveillance programs, and a database of rare diseases (Orphanet). The Abnormalities were extracted from these data sources, processed based on the ICD-10 and compiled with manual review. Results. 898 codes were identified, of which 619 (68.3%) were in Chapter XVII of ICD-10. Of the 279 codes in other chapters, 19 were exclusive of the ICD-11 search, 72 of the surveillance programs, 79 of the Orphanet and 36 of the ICD-10 search for terms. Conclusion. The codes contained in chapter XVII of ICD-10 do not capture the totality of congenital anomalies, indicating the need of adopting of an expanded list.

Objetivo. Propor uma lista de anomalias congênitas com códigos correspondentes na Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde – 10a Revisão (CID-10), visando aplicação no âmbito da vigilância em saúde. Métodos. Em dezembro de 2019, realizou-se busca nas seguintes fontes de dados: CID-10; CID-11; anomalias monitoradas por três modelos de vigilância; base de informações sobre doenças raras (Orphanet). Realizou-se extração das anomalias a partir dessas fontes, processamento para correspondência com base na CID-10 e compilação mediante revisão manual. Resultados. Foram identificados 898 códigos, dos quais 619 (68,3%) constavam no capítulo XVII da CID-10. Dos 279 códigos de outros capítulos, 19 foram exclusivos da busca na CID-11, 72 dos modelos de vigilância, 79 da Orphanet e 36 da busca de termos na CID-10. Conclusão. Os códigos que constam do capítulo XVII da CID-10 não captam a totalidade das anomalias congênitas, indicando a necessidade de adoção de uma lista ampliada.

Resumo Objetivo: Propor uma lista de anomalias congênitas com códigos correspondentes na Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde – 10ᵃ Revisão (CID-10), visando a aplicação no âmbito da vigilância em saúde. Métodos: Em dezembro de 2019, realizou-se busca nas seguintes fontes de dados: CID-10; CID-11; anomalias monitoradas por três modelos de vigilância; base de informações sobre doenças raras (Orphanet). Realizou-se extração das anomalias a partir dessas fontes, processamento para correspondência com base na CID-10 e compilação mediante revisão manual. Resultados: Foram identificados 898 códigos, dos quais 619 (68,9%) constavam no capítulo XVII da CID-10. Dos 279 códigos de outros capítulos, 19 foram exclusivos da busca na CID-11, 72 dos modelos de vigilância, 79 da Orphanet e 36 da busca de termos na CID-10. Conclusão: Os códigos que constam do capítulo XVII da CID-10 não captam a totalidade das anomalias congênitas, indicando a necessidade de adoção de uma lista ampliada.

Abstract Objective: To propose a list of congenital anomalies having corresponding codes in the International Statistical Classification of Diseases and Related Health Problems, 10thRevision (ICD-10), with the aim of applying it in health surveillance. Methods: In December 2019, the following data sources were searched: ICD-10; ICD-11; anomalies monitored by three surveillance programs; and a database of rare diseases (Orphanet). Anomalies were retrieved from these data sources, processed to check for correspondence with ICD-10 and reviewed manually to compile the list. Results: 898 codes were identified, of which 619 (68.9%) were contained in ICD-10 Chapter XVII. Of the 279 codes contained in other chapters, 19 were exclusive to the ICD-11 search, 72 to the surveillance programs, 79 to Orphanet and 36 to the search for terms in ICD-10. Conclusion: The codes contained in ICD-10 Chapter XVII do not capture the totality of congenital anomalies, indicating the need to adopt an expanded list.

Resumen Objetivo: Proponer una lista de anomalías congénitas con códigos correspondientes en la décima revisión de la Clasificación Internacional de Enfermedades (CIE), con el objetivo de su aplicación en el ámbito de la vigilancia de la salud. Métodos: En diciembre de 2019, se buscaron las siguientes fuentes: CIE-10; CIE-11; anomalías monitoreadas por tres modelos de vigilancia; y base de informaciones sobre enfermedades raras (Orphanet). Las anomalías se extrajeron de estas fuentes de datos, se procesó en base a la CIE-10 y se compiló con una revisión manual. Resultados: Se identificaron 898 códigos, de los cuales 619 (68,9%) estaban en el Capítulo XVII de la CIE-10. De los 279 códigos en otros capítulos, 19 fueron exclusivos de la búsqueda en la CIE-11, 72 de los modelos de vigilancia, 79 de Orphanet y 36 de la búsqueda de términos en la CIE-10. Conclusión: Los códigos contenidos en el capítulo XVII de la CIE-10 no capturan la totalidad de las anomalías congénitas, lo que indica la necesidad de adoptar una lista ampliada.

Resumo Objetivo: Propor uma lista de anomalias congênitas com códigos correspondentes na Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde – 10ᵃ Revisão (CID-10), visando a aplicação no âmbito da vigilância em saúde. Métodos: Em dezembro de 2019, realizou-se busca nas seguintes fontes de dados: CID-10; CID-11; anomalias monitoradas por três modelos de vigilância; base de informações sobre doenças raras (Orphanet). Realizou-se extração das anomalias a partir dessas fontes, processamento para correspondência com base na CID-10 e compilação mediante revisão manual. Resultados: Foram identificados 898 códigos, dos quais 619 (68,9%) constavam no capítulo XVII da CID-10. Dos 279 códigos de outros capítulos, 19 foram exclusivos da busca na CID-11, 72 dos modelos de vigilância, 79 da Orphanet e 36 da busca de termos na CID-10. Conclusão: Os códigos que constam do capítulo XVII da CID-10 não captam a totalidade das anomalias congênitas, indicando a necessidade de adoção de uma lista ampliada.

Abstract Objective: To propose a list of congenital anomalies having corresponding codes in the International Statistical Classification of Diseases and Related Health Problems, 10thRevision (ICD-10), with the aim of applying it in health surveillance. Methods: In December 2019, the following data sources were searched: ICD-10; ICD-11; anomalies monitored by three surveillance programs; and a database of rare diseases (Orphanet). Anomalies were retrieved from these data sources, processed to check for correspondence with ICD-10 and reviewed manually to compile the list. Results: 898 codes were identified, of which 619 (68.9%) were contained in ICD-10 Chapter XVII. Of the 279 codes contained in other chapters, 19 were exclusive to the ICD-11 search, 72 to the surveillance programs, 79 to Orphanet and 36 to the search for terms in ICD-10. Conclusion: The codes contained in ICD-10 Chapter XVII do not capture the totality of congenital anomalies, indicating the need to adopt an expanded list.

Resumen Objetivo: Proponer una lista de anomalías congénitas con códigos correspondientes en la décima revisión de la Clasificación Internacional de Enfermedades (CIE), con el objetivo de su aplicación en el ámbito de la vigilancia de la salud. Métodos: En diciembre de 2019, se buscaron las siguientes fuentes: CIE-10; CIE-11; anomalías monitoreadas por tres modelos de vigilancia; y base de informaciones sobre enfermedades raras (Orphanet). Las anomalías se extrajeron de estas fuentes de datos, se procesó en base a la CIE-10 y se compiló con una revisión manual. Resultados: Se identificaron 898 códigos, de los cuales 619 (68,9%) estaban en el Capítulo XVII de la CIE-10. De los 279 códigos en otros capítulos, 19 fueron exclusivos de la búsqueda en la CIE-11, 72 de los modelos de vigilancia, 79 de Orphanet y 36 de la búsqueda de términos en la CIE-10. Conclusión: Los códigos contenidos en el capítulo XVII de la CIE-10 no capturan la totalidad de las anomalías congénitas, lo que indica la necesidad de adoptar una lista ampliada.

Resumo Objetivo: descrever as anomalias congênitas (ACs) entre nascidos vivos de mães residentes em Tangará da Serra, MT, Brasil, durante o período 2006-2016. Métodos: estudo descritivo, com dados do Sistema de Informações sobre Nascidos Vivos (Sinasc). Resultados: de 15.689 nascimentos, 77 foram registrados com ACs (4,9/1.000); houve incremento de 80,7% no registro de AC em 2016, representando 10,3/1.000 nascidos vivos, incluídos cinco casos de microcefalia; a prevalência de AC foi maior entre crianças de mulheres maiores de 35 anos de idade (razão de prevalência [RP] =1,91; intervalo de confiança [IC95%] 1,01;3,60), prematuros (RP=2,22; IC95% 1,26;3,92) e com baixo peso ao nascer (RP=3,21; IC95% 1,86;5,54). Conclusão: observou-se baixa prevalência de AC, possivelmente relacionada ao sub-registro no nascimento; o aumento observado em 2016 pode estar relacionado à epidemia de Zika como causa de microcefalia, e à maior atenção dos profissionais de saúde às ACs durante a emergência em Saúde Pública.

Abstract Objective: to describe congenital anomalies (CA) among live births of mothers resident in Tangará da Serra, MT, Brazil, during the period 2006-2016. Methods: this was a descriptive study, using Brazilian Live Birth Information System (SINASC) data. Results: out of 15,689 births, 77 were registered with CA (prevalence of 4.9/1,000); there was an 80.7% increase of recorded CA in 2016, accounting for 10.3/1,000 live births, including five cases of microcephaly; CA prevalence was higher among children born to women aged over 35 years (prevalence ratio [PR] =1.91; confidence interval [95%CI] 1.01;3.60), preterm (PR=2.22; 95%CI 1.26;3.92) and low birth weight infants (PR=3.21; 95%CI 1.86;5.54). Conclusion: low CA prevalence was found, possibly related to under-recording at birth; the increase observed in 2016 may be related to the Zika epidemic causing microcephaly, as well as greater attention by health professionals in relation to CA during this public health emergency.

Resumen Objetivo: describir las anomalías congénitas (AC) entre nacidos vivo de madres residentes en Tangara da Serra, MT, Brasil, en el periodo 2006-2016. Métodos: estudio descriptivo, con datos registrados en el Sistema de Informaciones sobre Nacidos Vivos (Sinasc). Resultados: de 15.689 nacimientos del período, 77 se registraron con AC (prevalencia de 4,9/1.000); hubo incremento del 80,7% de AC en 2016 con 10,3/1.000, inclusos cinco casos de micocefalia; las prevalencias fueron mayores entre hijos de mujeres mayores de 35 años de edad (razón de prevalencia [RP] =1,91; intervalo de confianza [IC95%] 1,01;3,60), prematuros (RP=2,22; IC95% 1,26;3,92) y con bajo peso al nacer (RP=3,21; IC95% 1,86;5,54). Conclusión: se observó baja prevalencia de AC, posiblemente relacionada a los sub-registros de nacimiento; el aumento observado en 2016 puede estar relacionado con la epidemia de Zika como causa de microcefalia, y a la mayor atención de los profesionales de salud en relación a las AC durante la emergencia en salud pública.

Resumo Objetivo: descrever as anomalias congênitas (ACs) entre nascidos vivos de mães residentes em Tangará da Serra, MT, Brasil, durante o período 2006-2016. Métodos: estudo descritivo, com dados do Sistema de Informações sobre Nascidos Vivos (Sinasc). Resultados: de 15.689 nascimentos, 77 foram registrados com ACs (4,9/1.000); houve incremento de 80,7% no registro de AC em 2016, representando 10,3/1.000 nascidos vivos, incluídos cinco casos de microcefalia; a prevalência de AC foi maior entre crianças de mulheres maiores de 35 anos de idade (razão de prevalência [RP] =1,91; intervalo de confiança [IC95%] 1,01;3,60), prematuros (RP=2,22; IC95% 1,26;3,92) e com baixo peso ao nascer (RP=3,21; IC95% 1,86;5,54). Conclusão: observou-se baixa prevalência de AC, possivelmente relacionada ao sub-registro no nascimento; o aumento observado em 2016 pode estar relacionado à epidemia de Zika como causa de microcefalia, e à maior atenção dos profissionais de saúde às ACs durante a emergência em Saúde Pública.

Abstract Objective: to describe congenital anomalies (CA) among live births of mothers resident in Tangará da Serra, MT, Brazil, during the period 2006-2016. Methods: this was a descriptive study, using Brazilian Live Birth Information System (SINASC) data. Results: out of 15,689 births, 77 were registered with CA (prevalence of 4.9/1,000); there was an 80.7% increase of recorded CA in 2016, accounting for 10.3/1,000 live births, including five cases of microcephaly; CA prevalence was higher among children born to women aged over 35 years (prevalence ratio [PR] =1.91; confidence interval [95%CI] 1.01;3.60), preterm (PR=2.22; 95%CI 1.26;3.92) and low birth weight infants (PR=3.21; 95%CI 1.86;5.54). Conclusion: low CA prevalence was found, possibly related to under-recording at birth; the increase observed in 2016 may be related to the Zika epidemic causing microcephaly, as well as greater attention by health professionals in relation to CA during this public health emergency.

Resumen Objetivo: describir las anomalías congénitas (AC) entre nacidos vivo de madres residentes en Tangara da Serra, MT, Brasil, en el periodo 2006-2016. Métodos: estudio descriptivo, con datos registrados en el Sistema de Informaciones sobre Nacidos Vivos (Sinasc). Resultados: de 15.689 nacimientos del período, 77 se registraron con AC (prevalencia de 4,9/1.000); hubo incremento del 80,7% de AC en 2016 con 10,3/1.000, inclusos cinco casos de micocefalia; las prevalencias fueron mayores entre hijos de mujeres mayores de 35 años de edad (razón de prevalencia [RP] =1,91; intervalo de confianza [IC95%] 1,01;3,60), prematuros (RP=2,22; IC95% 1,26;3,92) y con bajo peso al nacer (RP=3,21; IC95% 1,86;5,54). Conclusión: se observó baja prevalencia de AC, posiblemente relacionada a los sub-registros de nacimiento; el aumento observado en 2016 puede estar relacionado con la epidemia de Zika como causa de microcefalia, y a la mayor atención de los profesionales de salud en relación a las AC durante la emergencia en salud pública.

Abstract In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH) of breast, ovarian and colorectal cancer and those with a positive FH were invited for genetic cancer risk assessment (GCRA). If pedigree analysis was suggestive of HBCS, genetic testing of the BRCA1, BRCA2, TP53, and CHEK2 genes was offered. Of 902 women submitted to GCRA, 214 had pedigrees suggestive of HBCS. Fifty of them underwent genetic testing: 18 and 40 for BRCA1/BRCA2 and TP53 mutation screening, respectively, and 7 for CHEK2 1100delC testing. A deleterious BRCA2 mutation was identified in one of the HBOC probands and the CHEK2 1100delC mutation occurred in one of the HBCC families. No deleterious germline alterations were identified in BRCA1 or TP53. Although strict inclusion criteria and a comprehensive testing approach were used, the suspected genetic risk in these families remains unexplained. Further studies in a larger cohort are necessary to better understand the genetic component of hereditary breast cancer in Southern Brazil.

Prenatal alcohol exposure can have serious and permanent adverse effects. The developing brain is the most vulnerable organ to the insults of prenatal alcohol exposure. A behavioral phenotype of prenatal alcohol exposure including conduct disorders is also described. This study on a sample of Brazilian adolescents convicted for criminal behavior aimed to evaluate possible clinical features of Fetal Alcohol Syndrome (FAS). These were compared to a control group of school adolescents, as well as tested for other environmental risk factors for antisocial behavior. A sample of 262 institutionalized male adolescents due to criminal behavior and 154 male students aged between 13 and 21 years comprised the study population. Maternal use of alcohol was admitted by 48.8% of the mothers of institutionalized adolescents and by 39.9% of the school students. In this sample of adolescents we could not identify -individual cases with a clear diagnosis of FAS, but signs suggestive of FASD were more common in the institutionalized adolescents. Social factors like domestic and family violence were frequent in the risk group, this also being associated to maternal drinking during pregnancy. The inference is that in our sample, criminal behavior is more related to complex interactions between environmental and social issues including prenatal alcohol exposure.

OBJETIVOS: a tentativa de aborto mal sucedida com o uso do misoprostol (Cytotec®) sem indicação médica tem sido associada a malformações congênitas. Este estudo teve por objetivo identificar, em recém-nascidos malformados e controles normais, a frequência de exposição ao misoprostol e o espectro de malformações associadas. MÉTODOS: estudo de caso-controle desenvolvido em 2005 nas quatro principais maternidades públicas de Fortaleza (CE). Através de busca ativa diária, foram identificados recém-nascidos com diagnóstico de malformação fetal (caso) e controles saudáveis de mesmo sexo nascidos em seguida na mesma maternidade (pareamento 1:1). A amostra foi de 252 parturientes entrevistadas por equipe treinada utilizando questionário estruturado com base no Estudo Colaborativo Latino-Americano de Malformações Congênitas (ECLAMC). Além de abordar questões sociodemográficas e histórico familiar de malformação, o questionário objetivou identificar exposições diversas durante a gestação, incluindo o misoprostol. A análise bivariada com teste do χ2 comparou os grupos quanto às características e fatores associados à malformação e foi calculada a Odds Ratio para verificar a razão de chances de o Grupo Caso apresentar malformação em relação ao Grupo Controle com relação à exposição ao misoprostol. RESULTADOS: não houve diferenças significativas entre os grupos caso e controle quanto à maioria dos fatores de riscos investigados para malformações. O relato de tentativa de aborto foi de 6,8%, havendo uma maior exposição ao misoprostol durante a gestação em neonatos malformados comparados a saudáveis, Odds Ratio (OR)=3,65 (IC95%=0,74-17,91). O espectro de malformações encontradas entre os recém-nascidos expostos ao misoprostol foi compatível com a literatura, como os decorrentes de defeitos do tubo neural e disrupção vascular. CONCLUSÕES: os achados deste estudo, apesar de não apresentarem significância estatística, sugerem que os fetos expostos ao misoprostol apresentam uma tendência a maior risco de defeitos congênitos comparados aos não-expostos. Outras investigações devem ser incentivadas para que se identifique melhor o dano causado pela utilização indevida do misoprostol, principalmente em países onde o controle de medicamentos é ineficaz.

PURPOSE: failed attempted abortions with the use of misoprostol (Cytotec®) without medical indication have been associated with the occurrence of congenital malformations. The objective of the present study was to identify, in newborns with malformations and in normal controls, the frequency of exposure to misoprostol and the spectrum of associated malformations. METHODS: this was a case-control study involving a daily survey at four public maternities in Fortaleza (CE) for the identification of newborns with malformations and paired controls (1:1) during the period from July to November 2005. The sample comprised 252 parturients interviewed by a trained team by means of a structured questionnaire based on the Latin American Collaborative Study of Congenital Malformations (Estudo Colaborativo Latino-Americano de Malformações Congênitas, ECLAMC). The questionnaire was used to obtain sociodemographic data and a family history of malformations, as well as to identify diverse forms of exposure during pregnancy, including misoprostol. Bivariate analysis and the chi-square test were used to compare cases and controls regarding their characteristics and factors associated with malformation, and the Odds Ratio was calculated to determine the chance of the Case Group to present malformations as compared to the Control Group after exposure to misoprostol. RESULTS: there were no significant differences between groups regarding most of the risk factors for malformations investigated. Attempted abortion was reported by 6.8% of the mothers, with a higher exposure to misoprostol during pregnancy resulting in a greater proportion of malformed newborns, Odds Ratio (OR)=3.65 (95%CI=0.74-17.91). The spectrum of congenital defects encountered with exposure to misoprostol included defects of the central nervous, musculoskeletal, urogenital and cardiovascular systems, in agreement with literature data. CONCLUSION: the findings of this study suggest that fetuses exposed to misoprostol tend to be at higher risk of developing congenital malformations in comparison to non-exposed fetuses. Other studies should be encouraged for a better identification of the damage caused by the improper use of misoprostol, especially in countries where the control of medication is inadequate.

In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive family history of cancer were referred to GCRA. Of the 9218 women enrolled, 1286 (13.9%) reported a family history of cancer. Of the 902 women who attended GCRA, 55 (8%) had an estimated lifetime risk of breast cancer ³ 20% and 214 (23.7%) had pedigrees suggestive of a breast cancer predisposition syndrome; an unexpectedly high number of these fulfilled criteria for Li-Fraumeni-like syndrome (122 families, 66.7%). The overall prevalence of a hereditary breast cancer phenotype was 6.2% (95%CI: 5.67-6.65). These findings identified a problem of significant magnitude in the region and indicate that genetic cancer risk evaluation should be undertaken in a considerable proportion of the women from this community. The large proportion of women who attended GCRA (72.3%) indicates that the program was well-accepted by the community, regardless of the potential cultural, economic and social barriers.

OBJETIVO: Ainda que as características clássicas da síndrome fetal alcoólica tenham sido descritas desde 1968, a pesquisa sobre a teratogênese do álcool apenas recentemente demonstrou que o cérebro é o órgão do corpo mais vulnerável aos efeitos da exposição pré-natal ao álcool. No presente artigo, fazemos uma revisão da literatura focalizando principalmente os distúrbios comportamentais relacionados à exposição pré-natal ao álcool. FONTES DOS DADOS: Foi realizada uma pesquisa com base no PubMed sobre a literatura publicada entre 1968 e 2006, com as palavras-chave etanol, gestação e comportamento. Foram estabelecidos limites a estudos em humanos. SÍNTESE DOS DADOS: Os dados apresentados nesta revisão sugerem que jovens com efeitos do espectro do álcool fetal estão sob risco maior de terem comportamento social disruptivo, entre outros problemas neurocomportamentais. CONCLUSÕES: Ainda que seja impossível separar completamente a teratogênese sobre o cérebro decorrente da exposição ao álcool de influências ambientais pós-natais como a causa definitiva desses resultados, o pediatra deve ser estimulado ao diagnóstico precoce de crianças afetadas pela síndrome fetal alcoólica e efeitos do espectro do álcool fetal. Isso permite iniciar o manejo e cuidados apropriados para evitar as conseqüências em longo prazo no comportamento e assegurar uma adaptação social e escolar melhor e mais produtiva.

OBJECTIVE: Although the classic features of fetal alcohol syndrome have been recognized since 1968, research on alcohol teratogenesis has only recently demonstrated that the brain is the organ in the body most vulnerable to the effects of prenatal alcohol exposure. In this present article, we reviewed the literature focusing mainly on behavioral disturbances related to prenatal ethanol exposure. SOURCES: We performed a PubMed search on the literature published between 1968 and 2006 using the terms ethanol, pregnancy and behavior. We limited our search to studies on humans. SUMMARY OF THE FINDINGS: The data presented in this review suggested that youths with fetal alcohol spectrum disorder are at risk of disruptive social behavior, among other neurobehavioral abnormalities. CONCLUSIONS: Although it is still impossible to completely separate brain teratogenesis secondary to alcohol exposure from environmental postnatal influences as the definite cause for these outcomes, the pediatrician should be encouraged to early diagnose children affected by fetal alcohol syndrome and fetal alcohol spectrum disorder. This provides proper management and care and avoids long-term consequences on their behavior, besides ensuring better and productive school and social adaptation.

We describes a study in which conventional wisdom about congenital malformations was investigated, the two main objectives being to list mothers' ideas by comparing six well-known causes of congenital abnormalities (ingestion of alcoholic beverages, smoking tobacco, drug use, marriage between relatives (consanguinity), rubella infection, maternal age) with explanations current in the general population and to discover the most common fallacies held by the general population concerning such abnormalities. The data were collected from 1 January to 31 December 1995 during a population study in which mothers were interviewed in hospitals in the city of Pelotas (population 400,000), Rio Grande do Sul state, Brazil. On each day of the study, the first three mothers to give birth were interviewed, resulting in 3,219 interviewed mothers out of 6,048 births. Our conclusion is that even though conventional wisdom is non-scientific it cannot be ignored because it is the source of a lot of suffering for the mother and can interfere with how she cares for her health . Although erroneous ideas about the causes of congenital abnormalities were more common among mothers from families receiving less than one minimum wage such ideas were found in all socioeconomic groups. In our discussion we emphasize that both mothers and the general public should be made aware of those risk-factors, especially maternal age and consanguinity, that really can cause congenital abnormalities.

O fato de agentes ambientais, nomeadamente fármacos, infecções maternas, e agentes químicos ou físicos poderem causar danos ao embrião ou feto em desenvolvimento é um problema reconhecido principalmente a partir do século 20. Nos países em desenvolvimento, existem características especiais que podem tornar esse problema mais agudo. Essas características incluem níveis educacionais e econômicos baixos da população, alta incidência de doenças infecciosas e carenciais, escassos recursos para saúde e pesquisa, prática freqüente e sem controle de automedicação, facilidade de obtenção de medicações que deveriam estar submetidas à prescrição médica e, finalmente, proibição legal de interrupção da gestação. Além disso, pode somar-se uma qualidade ambiental precária ou mesmo condições de trabalho insalubres durante a gravidez. No presente trabalho apresentamos as principais metodologias para detecção e monitorização de potenciais teratógenos, com ênfase especial nos programas desenvolvidos no Brasil e América Latina.

The fact that environmental agents, namely drugs, maternal infections, other chemical or physical agents could harm the developing embryo or fetus is a problem recognized specially since the XXth century. In developing countries there are some special characteristics that can make this problem more severe. These include low educational and economical level of the population, high incidence of infectious and carential diseases, habits of self-medication associated to easy ways to obtain prescription drugs and, finally no legal permission for pregnancy termination. More than that, sometimes there are also bad environmental conditions or unhealthy working conditions during pregnancy. In this article we present the main methodologies to detect and to monitorize potential teratogens, with special emphasis in present programs going on in Brazil and Latin America.

O fato de agentes ambientais, nomeadamente fármacos, infecções maternas, e agentes químicos ou físicos poderem causar danos ao embrião ou feto em desenvolvimento é um problema reconhecido principalmente a partir do século 20. Nos países em desenvolvimento, existem características especiais que podem tornar esse problema mais agudo. Essas características incluem níveis educacionais e econômicos baixos da população, alta incidência de doenças infecciosas e carenciais, escassos recursos para saúde e pesquisa, prática freqüente e sem controle de automedicação, facilidade de obtenção de medicações que deveriam estar submetidas à prescrição médica e, finalmente, proibição legal de interrupção da gestação. Além disso, pode somar-se uma qualidade ambiental precária ou mesmo condições de trabalho insalubres durante a gravidez. No presente trabalho apresentamos as principais metodologias para detecção e monitorização de potenciais teratógenos, com ênfase especial nos programas desenvolvidos no Brasil e América Latina.

The fact that environmental agents, namely drugs, maternal infections, other chemical or physical agents could harm the developing embryo or fetus is a problem recognized specially since the XXth century. In developing countries there are some special characteristics that can make this problem more severe. These include low educational and economical level of the population, high incidence of infectious and carential diseases, habits of self-medication associated to easy ways to obtain prescription drugs and, finally no legal permission for pregnancy termination. More than that, sometimes there are also bad environmental conditions or unhealthy working conditions during pregnancy. In this article we present the main methodologies to detect and to monitorize potential teratogens, with special emphasis in present programs going on in Brazil and Latin America.