Brazilian Family Research Articles

Sustainability in small rural properties: an exploratory study on the perception of the farmer

The aim of this study was to analyze the perception of Brazilian family farmers on the subject of sustainability in small farms. The central question is how to keep people in rural areas, encouraging the rational use of natural resources so as to cause the least environmental impact possible with its production practices without discussion of the sustainability issue. The problem lies in the sustainability of small farms using family labor, in which the production process, in general, is handmade and the production scale is small. The theoretical framework includes the issue on the grounds of the new rurality, productive diversification, pluriactivity and multifunctionality. The results indicate that the family farmers of small farms do not consider the adoption of production practices that rationally use natural resources and/or cause less environmental impact. The action of the capitalist logic is, guided by practices that generate enough income to keep the family members, reproduced from the practices observed in large farmers. The theoretical definition of rural sustainability is dissociated from practice in small farms, which are justified mainly by the absence of family labor and low profitability in productive activities that include the diversification of production and scale of production.

Genetic profile of Brazilian patients with dystrophinopathies.

Different types of mutations in the DMD gene underlie Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD). Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about DMD/BMD genetic profile in Brazil. Hence, we recruited patients with DMD and BMD from 8 neuromuscular reference centers along the country, and performed a comprehensive molecular investigation that included Multiplex Ligation-dependent Probe Amplification and Next generation sequencing (NGS) analyses. We evaluated 199 patients from 177 unrelated families: 166 with DMD, 32 with BMD and 1 1.5 years old asymptomatic patient with persistent hiperCKemia. Overall, large deletions (58.2%) followed by nonsense mutations (12.4%) and large duplications (11.3%) were the most frequent variants in Brazilian families. Large deletions were less frequent in BMD than in DMD (44.8% vs 60.8%). We identified 19 new DMD variants. Nonsense mutations were significantly more frequent in patients from northeastern region than from southern/southeastern regions of Brazil (27.7% vs 8.5%, P < .05). Genetic profile of Brazilian patients with DMD/BMD is similar to previously reported cohorts, but it is not uniform across the country. This information is important to plan rational clinical care for patients in face of the new coming mutation-specific therapies.

Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family.

Spinocerebellar ataxia type 8 (SCA8) is a progressive neurological disorder caused by the expanded repeat CTA/CTG of two overlapping genes, ATXN8OS and ATXN8, expressed bidirectionally. Normal alleles have 15-50 repeats, and pathogenic alleles range from 71 to 1300 repeats. The disorder is relatively rare, accounting for about 2%-5% of the autosomal dominant forms of hereditary ataxia worldwide. However, the prevalence of disease-causing ATXN8OS/ATXN8 expansions is higher than the disease because of the reduced penetrance of the expanded allele. The aim of this study was to describe the first fully penetrant SCA8 family showing mixed Brazilian African and Amerindian origin. Eight members of this family were evaluated-the mother and seven offspring-through a complete neurological examination conducted at the Neurogenetics Clinic, HCFMRP-USP in Brazil. The number of CTA/CTG repeats was obtained after polymerase chain reaction (PCR) and fragment analysis. The haplotype analysis was conducted using a microsatellite marker, D13S1296, and four single nucleotide polymorphisms (SNPs), rs1831189, rs8002227, rs11841483, and rs72284461, all spanning a 70.1Mb region on chromosome 13q21.3. The molecular analysis showed that the expansions ranged from 104 to 109 CTA/CTG repeats in the six affected individuals and were absent in two asymptomatic daughters (aged 53 and 40years). Three SNPs cosegregate with the expanded alleles, confirming the connection between expansion and disease in this family. As the SCA8 diagnosis demands careful interpretation, we suggest the use of linkage analysis to observe segregation of the mutation, making more accurate its genotyping.

Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A.

About one-quarter of patients with medullary thyroid cancer (MTC) have inherited disease due to mutations in the RET gene. A rare mutation in exon 8 (G533C) of RET, previously described in a large Brazilian family with MEN2A, also appeared to be clustering in Greece, whereas it was rarely reported in other ethnic groups. The aim of this study was to identify a possible common ancestry between these carriers. Twelve RET G533C mutation carriers, four randomly selected from the Brazilian cohort and eight from apparently unrelated Greek families, were studied for a possible common ancestral origin. RET flanking microsatellite markers at chromosome 10q (D10S197, D10S196, D10S1652 and D10S537) were used. Genomic DNA analysis using these markers showed that many of these apparently unrelated individuals shared a common haplotype indicating a common ancestral origin. Our data suggest that Brazilian and Greek patients with MTC carrying the G533C mutation in exon 8 of RET gene originate from a common ancestor. Due to historical reasons, we speculate that the more plausible explanation for the origin of this mutation is in Greece.

M30 - High Heritability of Telomere Length In Families With Bipolar Disorder

Background Bipolar Disorder (BD) is a highly debilitating mental illness and its etiology and pathophysiology are not completely known yet, despite the evidence of an important genetic component from twin and adoption studies. More recently, BD has been related to a process of accelerated aging, with some studies showing shortened leukocyte telomeres in this population. The purpose of the present study was to investigate genetic and environmental influences on telomere length trait in families with BD, using a variance component approach, by estimating the heritability of this trait as well as co-variate effects. Methods Telomere length (T) was estimated in a sample of 144 individuals, including 60 BD patients from 18 Brazilian families, which was measured in relation to the single copy gene (S) – β-globin gene (HBB) – using a singleplex real time PCR, providing a ratio of number of copies of T by S (T/S). Heritability estimate was obtained by a polygenic mixed model. Results Before adjustment for sex, age and status of disease (null model), the polygenic heritability of telomere length was 0.58. When adjusted for sex, age and status of disease, the heritability continues as 0.58, but when adjusted only for sex and age, it increases to 0.68. Only p value of the effect of age is significant ( Discussion To our knowledge, this is the first study evaluating heritability of telomere length in families with several members affected by bipolar disorder. The heritability estimation for telomere length in those Brazilian families was high (0.68). When calculation for the heritability of this trait was adjusted for the co-variate “status of disease” (bipolar dichotomous co-variate), it decreased a little to 0.58 (as null model). Mapping efforts to identify genetic loci associated with telomere length and other genetic variants on this population are warranted.

Heritability of arterial stiffness in a Brazilian population: Baependi Heart Study.

Increased arterial stiffness is an important determinant of cardiovascular disease risk. In addition, it has been recognized that arterial stiffness has familial aggregation; however, there are no studies involving Brazilian families. Thus, the aim of this study was to evaluate the heritability of arterial stiffness in a Brazilian population. In this study, 1675 eligible individuals (both sexes and aged 18-102 years) were distributed in 125 families resident in the municipality of Baependi, a city located in the southeast of Brazil. Carotid-femoral pulse wave velocity (PWV) was measured with a noninvasive automatic device (Complior; Artech Medical, Pantin, France). Variance component approaches, implemented in the SOLAR computer package (San Antonio, Texas, USA), were applied to estimate the heritability of the studied phenotype under different statistical models. Heritability estimates for carotid-femoral PWV stratified by age ranging from 11 to 35% (higher in individuals aged ≤45 years and lower in individuals aged 18-102 years). Age and hypertension showed significant effects on the PWV trait and significantly affect heritability estimates in all models. We conclude that the heritability of carotid-femoral PWV in a Brazilian population is intermediate, and therefore genetic studies evolving arterial stiffness phenotypes should be encouraged.

A EMERGÊNCIA DOS MERCADOS INSTITUCIONAIS NO ESPAÇO RURAL BRASILEIRO: AGRICULTURA FAMILIAR E SEGURANÇA ALIMENTAR E NUTRICIONAL

doi: 10.12957/geouerj.2016.19161 The present paper analyzes the chief contributions from institutional markets generated to Brazilian family farmers and, by contrast, presents the obstacles that hinder their access or permanence in these markets. For such, readings were made of works that address the theme, and interviews were performed with different social agents responsible for the operationalization of programs like PAA, PNAE and Sao Paulo Program for Social Interest Farming (PPAIS) in Dracena municipality, in Sao Paulo state west region. Based on analyses made, it was concluded that such programs have great potential to yield sustainable rural development actions in Brazilian countryside and ensure food and nutritional safety of needy populations. For such, public authorities should adopt measures to minimize issues that limit family famers’ access to and/or permanence in programs oriented to family farming.

Integrated mental healthcare: outcomes from Brazilian primary care

Objectives: To compare outcomes from Brazilian patients with anxiety and/or depression followed by primary care teams working with and without access to mental health integrated care. Method: The study was conducted with patients from 4 Brazilian Family Health Strategy teams. Only 2 of these teams had access to an integrated care model. A psychiatrist and a psychiatric nurse conducted weekly activities in primary healthcare units. Patients waiting for an appointment underwent screening and those diagnosed with major depression and/or generalized anxiety disorder were assessed during 12 months. The outcomes measures were the scores of the respective modules of “Mini International Neuropsychiatric Interview-TRACKING”. Results: One hundred and forty-seven patients underwent screening. Eighty-five had positive screening and 42 were diagnosed with depression and/or anxiety. Twenty-one patients in each arm of the study, that is, with and without integrated mental healthcare, were diagnosed at baseline. There were no differences in demographic and clinical characteristics between the 2 groups. Fifteen patients in each study arm performed 5 assessments and completed 12 months of follow-up. Repeated Measures Analysis of Variance (ANOVArm) showed significant differences in time factor (F4,120 = 16.6, p <0.001), in interaction time x group, in contrasts between the first and fourth assessment (F 1,30 = 4.55, p = 0.041) and between the first and fifth assessment (F 1,30 = 5.33, p = 0.028). Conclusion: Integration of mental health specialists into Brazilian primary care seems to be a relevant factor to generate better mental health outcomes.

Assessment of rural credit impact on land and labor productivity for Brazilian family farmers

Abstract: The objective of this study was to evaluate the impact of rural credit on land and labor productivity for Brazilian family farmers and assess factors influencing the rural credit approval process. The study employs data contained in the 2006 Brazilian Municipality1 Agricultural Census and a “trade index” (TI) specifically constructed to differentiate family farmers. The impact of credit on land and labor productivity was calculated by comparing the productivity of a group of family farmers that received credit with the productivity of a group of family farmers that were credit restricted. The groups were constructed with the aid of propensity score matching. When statistically significant, the average effect of credit was found to increase the recipient’s productivity of land and labor. It was also found that productivity increases due to the use of credit aligned with the level of the family farmer’s integration into the commercial market and, therefore, one credit policy does not fit for all Brazilian family farmers.

A POPULAÇÃO DO MEXILHÃO Perna perna NO COSTÃO ROCHOSO DE PIÚMA-ES, E SUA UTILIDADE PARA AQUICULTURA

A mitilicultura é uma forma alternativa de várias famílias trabalharem reduzindo o extrativismo e pressão sobre as populações naturais de mexilhão. O objetivo dessa investigação foi caracterizar a distribuição dos diferentes tamanhos de sementes do mexilhão Perna perna em um costão rochoso de Piúma, Espírito Santo, e avaliar sua exploração para utilizá-las em projetos de cultivo. O trabalho foi realizado no Instituto Federal do Espírito Santo–Campus de Piúma, onde foram analisadas 16 amostras em quatro tratamentos: T1 - início das sementes no costão; T2 - 1 metro abaixo do inicial; T3 - 2 metros abaixo; T4 - 3 metros abaixo, cada um com quatro repetições em delineamento inteiramente casualizado. Foram observadas, pelo teste de Shannon-Wiener, heterogeneidade na quantidade de sementes na faixa de 1,5 - 2,4 cm na distribuição vertical; também nas de 1,5 - 2,4 cm e 3,6 - 4,5 cm na distribuição vertical por peso. A fauna acompanhante também apresentou heterogeneidade.

Brazilian Immigrant Mothers' Beliefs and Practices Related to Infant Feeding: A Qualitative Study.

Exclusive breastfeeding for the first 6 months of life and timely introduction of appropriate solid foods are important determinants of weight status in infancy and later life stages. Disparities in obesity rates among young children suggest that maternal feeding practices during the first 2 years of life may contribute to these disparities. Brazilians are a growing immigrant group in the United States, yet little research has focused on parental beliefs and behaviors affecting the health of Brazilian immigrant children in the United States. Research aim: This study aimed to explore beliefs and infant-feeding practices of Brazilian immigrant mothers in the United States. Focus group discussions were conducted with Brazilian immigrant mothers. Transcripts were analyzed using thematic analysis and themes categorized using the socioecological model. Twenty-nine immigrant Brazilian mothers participated in the study. Analyses revealed that all participants breastfed their infants. The majority initiated breastfeeding soon after childbirth. However, most mothers did not exclusively breastfeed. They used formula and human milk concomitantly. Family and culture influenced mothers' infant-feeding beliefs and practices in early introduction of solid foods. As the number of children in the United States growing up in families of immigrant parents increases, understanding influences on Brazilian immigrant mothers' infant-feeding practices will be important to the development of effective interventions to promote healthy infant feeding and weight status among Brazilian children. Interventions designed for Brazilian immigrant families should incorporate an understanding of social context, family, and cultural factors to develop health promotion messages tailored to the needs of this ethnic group.

A utilização de plantas medicinais e da fitoterapia em comunidades assistidas pela Estratégia Saúde da Família

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The Color of Love: Racial Features, Stigma, and Socialization in Black Brazilian Families. By Elizabeth Hordge-Freeman. Austin: University of Texas Press, 2015. Pp. xiii+311. $29.95.

<i>The Color of Love: Racial Features, Stigma, and Socialization in Black Brazilian Families</i>. By Elizabeth Hordge-Freeman. Austin: University of Texas Press, 2015. Pp. xiii+311. $29.95.

Autosomal dominant Parkinson’s disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil

IntroductionAmongst Parkinson's disease (PD) genetic factors, mutations in LRRK2, SNCA, VPS35 and GBA genes are recognized causes of PD. Nonetheless, few genetic screenings have been conducted in families with a history of PD consistent with autosomal dominant inheritance (ADPD), and their relevance to the etiology of PD has been poorly explored in Latin American populations, such as the Brazilian one, with a high degree of admixture. MethodsIn order to assess the contribution of specific mutations in LRRK2, SNCA, VPS35 and GBA genes to ADPD in Brazil, we conducted the first molecular evaluation in a cohort of 141 index cases from families with ADPD. Genomic DNA was isolated from peripheral blood or saliva, and the molecular analysis was performed by TaqMan allelic discrimination assays or bidirectional sequencing. ResultsHeterozygous mutations in LRRK2 and GBA genes were identified in 10 (7.0%) probands, and all presented typical signs of classical PD. No mutations were found in SNCA or VPS35 genes. ConclusionOur findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. The absence of mutations in VPS35 and SNCA genes reveals that they are uncommon causes of PD in Brazil, corroborating previous studies that also failed to detect these genetic variants in PD patients from other populations. Recent discoveries of novel causative genes of autosomal dominant forms of PD expand the investigative possibilities and should be targeted on future studies.

Zika Virus Outbreak and the Poor Brazilian Family Planning Program.

Zika Virus Outbreak and the Poor Brazilian Family Planning Program.

Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

BackgroundThere are very few data about the mutational profile of families at-risk for hereditary breast and ovarian cancer (HBOC) from Latin America (LA) and especially from Brazil, the largest and most populated country in LA.ResultsOf the 349 probands analyzed, 21.5% were BRCA1/BRCA2 mutated, 65.3% at BRCA1 and 34.7% at BRCA2 gene. The mutation c.5266dupC (former 5382insC) was the most frequent alteration, representing 36.7% of the BRCA1 mutations and 24.0% of all mutations identified. Together with the BRCA1 c.3331_3334delCAAG mutation, these mutations constitutes about 35% of the identified mutations and more than 50% of the BRCA1 pathogenic mutations. Interestingly, six new mutations were identified. Additionally, 39 out of the 44 pathogenic mutations identified were not previously reported in the Brazilian population. Besides, 36 different variants of unknown significance (VUS) were identified. Regarding ancestry, average ancestry proportions were 70.6% European, 14.5% African, 8.0% Native American and 6.8% East Asian.Materials and methodsThis study characterized 349 Brazilian families at-risk for HBOC regarding their germline BRCA1/BRCA2 status and genetic ancestry.ConclusionsThis is the largest report of BRCA1/BRCA2 assessment in an at-risk HBOC Brazilian population. We identified 21.5% of patients harboring BRCA1/BRCA2 mutations and characterized the genetic ancestry of a sample group at-risk for hereditary breast cancer showing once again how admixed is the Brazilian population. No association was found between genetic ancestry and mutational status. The knowledge of the mutational profile in a population can contribute to the definition of more cost-effective strategies for the identification of HBOC families.

MÃE DE PRIMEIRA VIAGEM: NARRATIVAS DE MULHERES EM SITUAÇÃO DE VULNERABILIDADE SOCIAL

Considerando pesquisas recentes na área da maternidade que salientam as transformações psicológicas que acompanham o processo de transição para a maternidade e o aumento do número de famílias brasileiras em situação de precariedade social, de acordo com o Mapa de Vulnerabilidade de São Paulo, do Centro de Estudos da Metrópole, buscamos investigar os sentidos afetivo-emocionais atribuídos à experiência da maternidade em situação de vulnerabilidade social. Adotando a narrativa interativa como recurso metodológico, solicitamos a 17 mulheres, entre gestantes e puérperas, moradoras de um alojamento social na cidade de São Paulo, que completassem uma história fictícia, previamente elaborada pelas pesquisadoras, sobre as angústias de uma gestante. As produções narrativas foram psicanaliticamente consideradas e organizadas em campos de sentido afetivo-emocional que comunicam a experiência materna das participantes. Neste trabalho, focalizamos o campo da mãe de primeira viagem, que organiza as produções narrativas das participantes em torno da experiência de ser mãe pela primeira vez. A mãe de primeira viagem é vista por esse grupo de mulheres como insegura, ansiosa e medrosa, mas capaz de construir o seu próprio estilo de ser mãe à medida que cuida do filho, ganhando maturidade e autoconfiança. Os depoimentos das participantes nos convidam a desconstruir concepções sociais preconceituosas acerca das possibilidades de uma maternagem adequada em situação de vulnerabilidade social, e a compreender que o cuidado infantil pode ser viabilizado, também nessa condição, pelo suporte familiar, social e, quando necessário, psicológico, o que sugere a potencialidade de medidas preventivas e interventivas.

O discurso construcionista social na prática clínica de terapeutas familiares

O campo da terapia familiar (TF) é composto por diferentes propostas teóricas e epistemológicas. Recentemente, o construcionismo social tem contribuído para a configuração de novas práticas em TF, levando a uma maior ênfase nos processos de comunicação no contexto terapêutico. O objetivo deste estudo é investigar a difusão do construcionismo entre terapeutas familiares brasileiros. Participaram 14 terapeutas, homens e mulheres, psicólogos, que realizam atendimentos de famílias e são professores em cursos de formação em TF. Realizamos entrevistas semiestruturadas, que foram gravadas em áudio e transcritas literalmente. A partir das propostas construcionistas para a pesquisa científica, realizamos análise temática das informações. Nas cinco temáticas construídas, discutimos como os participantes descrevem o construcionismo e as implicações advindas em sua prática clínica. Concluímos que a difusão deste está atrelada à atribuição de utilidade aos conceitos teóricos, constituindo-se em porta de entrada para reflexões acerca da atuação clínica e cujas contribuições agregam novos elementos ao posicionamento do terapeuta.

Book Review: The Color of Love: Racial Features, Stigma and Socialization in Black Brazilian Families

Book Review: The Color of Love: Racial Features, Stigma and Socialization in Black Brazilian Families

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.

BackgroundPycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families in Ceará State, a region of the Brazilian Northeast, giving a local prevalence of 3 per million. This local prevalence associated with a high parental consanguinity, suggesting a possible founder effect, prompted us to perform a molecular investigation of these families to test this hypothesis.MethodsThe CTSK gene was sequenced by the Sanger method in the patients and their parents. In addition to 18 families from Ceará, this study also included 15 families from other Brazilian regions. We also investigated the origin of each family from the birthplace of the parents and/or grandparents.ResultsWe have studied 39 patients, including 33 probands and 6 sibs, from 33 families with pycnodysostosis and identified six mutations, five previously described (c.436G>C, c.580G>A, c.721C>T, c.830C>T and c.953G>A) and one novel frameshift (c.83dupT). This frameshift variant seems to have a single origin in Ceará State, since the haplotype study using the polymorphic markers D1S2344, D1S442, D1S498 and D1S2715 suggested a common origin. Most of the mutations were found in homozygosity in the patients from Ceará (83.3 %) while in other states the mutations were found in homozygosity in half of patients. We have also shown that most of the families currently living outside of Ceará have northeastern ancestors, suggesting a dispersion of these mutations from the Brazilian Northeast.ConclusionsThe high frequency of pycnodysostosis in Ceará State is the consequence of the high inbreeding in that region. Several mutations, probably introduced a long time ago in Ceará, must have spread due to consanguineous marriages and internal population migration. However, the novel mutation seems to have a single origin in Ceará, suggestive of a founder effect.Electronic supplementary materialThe online version of this article (doi:10.1186/s40001-016-0228-7) contains supplementary material, which is available to authorized users.