Brazilian Family Research Articles

EDUCAÇÃO FINANCEIRA NA EDUCAÇÃO PROFISSIONAL E TECNOLÓGICA

Strictly speaking, capitalism is a cyclical system that alternates cycles of economic growth followed by declines in activities. This magnifies social vulnerability and contributes to the indebtedness of Brazilian families, making Financial Education an urgent and necessary demand. Within the school context, the integration of Financial Education into the integrated curricula of the Federal Network of Professional, Scientific, and Technological Education contributes to the formation of more conscious, critical individuals capable of dealing with the economic and financial challenges of contemporary times. In light of the foregoing, this study aimed to ascertain the perception of graduates from the Integrated Technical Course in Accounting at the Patrocínio Campus of the Federal Institute of Triângulo Mineiro - IFTM regarding the teaching of Financial Education in schools. To do so, it relied on a qualitative methodological approach through bibliographic analysis and questionnaire application. The data indicate that graduates from the Integrated Technical Course in Accounting at the Patrocínio Campus of IFTM consider the topic relevant and even suggest a mandatory and separate discipline to address it in more detail. They also recommend that facilitating the learning of Financial Education topics occur, among other pedagogical practices, through videos. The results obtained stimulate discussion about the importance of integrating Financial Education into educational institutions, especially those offering Professional, Scientific, and Technological Education, thus contributing to the holistic formation of individuals.

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.

Hearing loss is a frequent sensory impairment type in humans, with about 50% of prelingual cases being attributed to genetic factors. Autosomal recessive hearing loss (ARHL) exhibits great locus heterogeneity and is responsible for 70%-80% of hereditary nonsyndromic cases. A total of 90 unrelated Brazilian individuals were selected for having hearing loss of presumably autosomal recessive inheritance, either born from consanguineous marriages or belonging to families with two or more affected individuals in the sibship and most cases were of normal hearing parents. In all cases, common pathogenic variants in GJB2 (c.35delG), GJB6 [del(GJB6-D13S1830) and del(GJB6-D13S1854)] and MT-RNR1 (m.1555A>G) were discarded and most were previously assessed by complete Sanger sequencing of GJB2. Their genetic material was analyzed through next-generation sequencing, targeting 99 hearing loss-related genes and/or whole exome sequencing. In 32 of the 90 probands (36,7%) causative variants were identified, with autosomal recessive inheritance confirmed in all, except for two cases due to dominant variants (SIX1 and P2RX2). Thirty-nine different causative variants were found in 24 different known hearing loss-associated genes, among which 10 variants are novel, indicating wide genetic heterogeneity in the sample, after exclusion of common pathogenic variants. Despite the genetic heterogeneity, some genes showed greater contribution: GJB2, CDH23, MYO15A, OTOF, and USH2A. The present results confirmed that next-generation sequencing is an effective tool for identifying causative variants in autosomal recessive hearing loss. To our knowledge, this is the first report of next-generation sequencing being applied to a large cohort of pedigrees with presumable autosomal recessive hearing loss in Brazil and South America.

Cross-border planning for Brazilian families

Abstract This article aims to provide an overview of cross-border planning for Brazilian Families, addressing key topics to be taken into consideration, especially those related to marital asset regimes, forced heirship rights, private, corporate, tax and international laws, from a Brazilian perspective. It also addresses the significant impacts of the 2023 Brazilian tax reform, encompassing the taxation of investment funds in Brazil, income derived by individuals resident in the country, controlled entities and trusts abroad, the introduction of CFC rules for individuals and further anti-deferral rules.

Evidence for the founder effect of V804L and V804M pathogenic variants affected kindred of brazilian families spreading multiple endocrine neoplasia 2A (MEN2A)

Evidence for the founder effect of V804L and V804M pathogenic variants affected kindred of brazilian families spreading multiple endocrine neoplasia 2A (MEN2A)

The role of primary healthcare amid the COVID-19 pandemic: Evidence from the Family Health Strategy in Brazil

This paper investigates the role of primary healthcare in mitigating the consequences of the COVID-19 pandemic, focusing on the Brazilian Family Health Strategy (ESF) as a case study. ESF is Brazil’s major primary care initiative, with prior evidence indicating its effectiveness in improving various health outcomes. The COVID-19 pandemic submitted the Brazilian healthcare system to a rigorous and unprecedented stress test, whose repercussions are still under study. Using comprehensive administrative microdata from 2016 to 2022 encompassing dimensions related to mortality, healthcare service, supply of family health teams, and vaccination coverage, our empirical strategy accounts for heterogeneous effects based on program intensity and pandemic evolution of the 5570 Brazilian municipalities. Our findings reveal that municipalities with high-intensity of ESF coverage (i.e. stronger primary care) experienced 347.93 (95% CI: 289.04, 406.81) fewer COVID-19 and cardiorespiratory deaths per million inhabitants throughout the pandemic period, compared to those in low-intensity ESF areas, despite sharing similar profiles of deaths from respiratory and cardiovascular causes. Among the channels contributing to this relative performance, high-intensity ESF municipalities were found to engage in more home-based primary care visits and health promotion activities while maintaining a similar supply of community health workers. Additionally, they achieved higher vaccination coverage, and these effects were more pronounced in areas with greater ESF presence, emphasising the importance of primary care coverage. In conclusion, our findings underscore the relevance of strong primary care in mitigating the consequences of the pandemic and addressing post-pandemic health challenges.

A novel cisAB allele with a missense variant (c.971T>C) in the ABO gene of a Brazilian family.

Missense variants in exon 7 of the ABO gene can lead to the formation of cisAB alleles. These alleles encode glycosyltransferases (GTs) capable of synthesizing both A and B antigens. In this study, we report the discovery of a novel cisAB allele and characterize it at molecular, protein and serological levels. Blood and DNA samples from the proband and seven relatives were examined using standard and modified ABO phenotyping, polymerase chain reaction-restriction fragment length polymorphism and ABO gene sequencing. We assessed the impact of the p.Leu324Ser variant on the protein structure of the mutant GT using bioinformatics tools. Molecular tests revealed a c.971T>C (p.Leu324Ser) variant in the ABO gene in five of the eight individuals. This variant results in a GT that produces more A antigens and fewer B antigens. Bioinformatics analysis suggests that the amino acid substitution (p.Leu324Ser) could potentially affect enzymatic activity and specificity of the GT. We identified a novel cisAB allele resulting from a c.971T>C variant in the ABO gene. This variant led to the expression of an ABweak phenotype.

Arsenic, lead, and mercury urinary levels of Brazilian families included in a home-based informal jewelry production

Arsenic, lead, and mercury urinary levels of Brazilian families included in a home-based informal jewelry production

Exploring Leader’s Virtues on Identification-Based Trust, LMX, and OCBs in Brazilian Family Firms

Exploring Leader’s Virtues on Identification-Based Trust, LMX, and OCBs in Brazilian Family Firms

Assessing the productivity effects of agricultural extension in a pluralistic system: an analysis of Brazilian family farming in 2017

ABSTRACT Purpose: This paper analyzes the impact of agricultural extension on the production of Brazilian family farmers, breaking down differences among extension providers. Design/Methodology/Approach: An Output Distance Function was estimated for Brazilian family farming using 5,463 municipality-level observations from the 2017 Brazilian Agricultural Census. The impact of extension on efficiency and technology was assessed. Findings: Rural extension services from public institutions, cooperatives, and private companies increased technical efficiency. Independent consultant services increased the adoption of more productive technologies and technical efficiency. However, public technical assistance increased productivity by 47.76%, technicians hired directly by farmers increased productivity by 31.25%, and technical assistance from cooperatives increased productivity by 31%. Practical implications: These findings could aid in the Brazilian Extension System’s goal of promoting productivity gains. The National Policy of Rural Extension has the ability to decentralize the role of the government and structure incentives to increase access to other providers based on these findings. Theoretical implications: This article expands the econometric estimation of Output Distance Functions to break down the impacts of extension on both efficiency and technology adoption. Originality/Value: Using readily available municipality-level data, this paper contributes to the understanding of the effectiveness of the different providers of rural extension for Brazilian family farmers and provides data regarding the impact on yield.

Parenting in socially vulnerable Brazilian families benefiting from the Bolsa Família Program

Bolsa Família is an important Brazilian public policy for conditional income transfer to socially vulnerable families. Breaking the conditionalities relating to basic care in terms of children’s education and health leads to problems in terms of parenting. The objectives of this study were to verify the existence of differences in parenting in families benefiting from the Program and to check which parenting-related variables would predict compliance with the conditionalities. Thirty mothers/guardians of families benefiting from the Program who were not adhering to the conditionalities and 30 who were adhering took part in the study. Questionnaires were used to obtain information on constructs relevant to the model for studying parenting proposed by Belsky (contextual, relational, and personal - caregiver/child). Comparison and prediction tests showed that families in compliance with the conditionalities had greater family cohesion; children had fewer social competence and behavioral problems, and caregivers had less personal and psychological fragility. These aspects seem important in proposing a supplementary program to the Bolsa Família, targeting families at risk of breaking conditionalities, indicating that public policy must also be responsive to psychosocial dimensions.

Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li–Fraumeni syndrome

Germline TP53 pathogenic variants can lead to a cancer susceptibility syndrome known as Li–Fraumeni (LFS). Variants affecting its activity can drive tumorigenesis altering p53 pathways and their identification is crucial for assessing individual risk. This study explored the functional impact of TP53 missense variants on its transcription factor activity. We selected seven TP53 missense variants (c.129G > C, c.320A > G, c.417G > T, c.460G > A, c,522G > T, c.589G > A and c.997C > T) identified in Brazilian families at-risk for LFS. Variants were created through site-directed mutagenesis and transfected into SK-OV-3 cells to assess their transcription activation capabilities. Variants K139N and V197M displayed significantly reduced transactivation activity in a TP53-dependent luciferase reporter assay. Additionally, K139N negatively impacted CDKN1A and MDM2 expression and had a limited effect on GADD45A and PMAIP1 upon irradiation-induced DNA damage. Variant V197M demonstrated functional impact in all target genes evaluated and loss of Ser15 phosphorylation. K139N and V197M variants presented a reduction of p21 levels after irradiation. Our data show that K139N and V197M negatively impact p53 functions, supporting their classification as pathogenic variants. This underscores the significance of conducting functional studies on germline TP53 missense variants classified as variants of uncertain significance to ensure proper management of LFS-related cancer risks.

The impact of primary health care on AIDS incidence and mortality: A cohort study of 3.4 million Brazilians.

Primary Health Care (PHC) is essential for effective, efficient, and more equitable health systems for all people, including those living with HIV/AIDS. This study evaluated the impact of the exposure to one of the largest community-based PHC programs in the world, the Brazilian Family Health Strategy (FHS), on AIDS incidence and mortality. A retrospective cohort study carried out in Brazil from January 1, 2007 to December 31, 2015. We conducted an impact evaluation using a cohort of 3,435,068 ≥13 years low-income individuals who were members of the 100 Million Brazilians Cohort, linked to AIDS diagnoses and deaths registries. We evaluated the impact of FHS on AIDS incidence and mortality and compared outcomes between residents of municipalities with low or no FHS coverage (unexposed) with those in municipalities with 100% FHS coverage (exposed). We used multivariable Poisson regressions adjusted for all relevant municipal and individual-level demographic, socioeconomic, and contextual variables, and weighted with inverse probability of treatment weighting (IPTW). We also estimated the FHS impact by sex and age and performed a wide range of sensitivity and triangulation analyses; 100% FHS coverage was associated with lower AIDS incidence (rate ratio [RR]: 0.76, 95% CI: 0.68 to 0.84) and mortality (RR: 0.68, 95%CI: 0.56 to 0.82). FHS impact was similar between men and women, but was larger in people aged ≥35 years old both for incidence (RR: 0.62, 95% CI: 0.53 to 0.72) and mortality (RR: 0.56, 95% CI: 0.43 to 0.72). The absence of important confounding variables (e.g., sexual behavior) is a key limitation of this study. AIDS should be an avoidable outcome for most people living with HIV today and our study shows that FHS coverage could significantly reduce AIDS incidence and mortality among low-income populations in Brazil. Universal access to comprehensive healthcare through community-based PHC programs should be promoted to achieve the Sustainable Development Goals of ending AIDS by 2030.

Response letter to: a homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family

Response letter to: a homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family

The Burden of Hereditary Angioedema in a Large Family in Brazil

Introduction: Hereditary angioedema (HAE) is a rare genetic disease characterized by submucosal and subcutaneous edema with high morbidity and possibility of mortality. This study presents the sociodemographic characteristics of a large Brazilian family with HAE. Methods: Descriptive cross-sectional study with patients from two family branches coming from the same city and HAE diagnosis was carried out. Clinical, laboratory, and treatment data of patients have been collected. Genetic testing was performed on some individuals. Correlation tests and comparisons between variables were applied using IBM SPSS Statistics® 2.0 program. Results: We provide a detailed characterization of two families affected by HAE due to C1-INH deficiency, residing in a small town in southern Brazil. These families harbor an identified mutation in the SERPING1 gene (c.1104del, p.Asp369ThrfsTer2). The mean age at HAE diagnosis was 16.7 (±14.0) years, with the mean onset of symptoms at 6.0 (±6.1) years of age. A correlation was observed between patients’ current age and age at HAE diagnosis, with older patients being diagnosed later than younger individuals (p < 0.0001). On average, there were 16.8 emergency visits in the past year (±24.8), and 53.5% of patients reported at least one lifetime hospitalization. Notably, treatment modalities often diverged from consensus recommendations regarding optimal prophylaxis and management of HAE attacks. Conclusions: This study describes one of the largest known families with HAE in Brazil and highlights the significant impact of unfavorable social conditions on disease control.

Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian families.

To characterize Vanishing White Matter Disease (VWM) cases from a Brazilian University Tertiary hospital, focusing on brain magnetic resonance image (MRI) aspects, clinical and molecular data. Medical records and brain MRI of 13 genetically confirmed VWM patients were reviewed. Epidemiological data such as age at symptom onset, gender and main symptoms were analyzed, along with genetic mutations and MRI characteristics, such as the distribution of white matter lesions and atrophy. The majority of patients were female, with the age of symptom onset ranging from 1year and 6months to 40years. All mutations were identified in the EIF2B5 gene, the most prevalent being c.338G > A (p.Arg113His), and a novel mutation related to the disease was discovered, c.1051G > A (p.Gly351Ser). Trauma or infection were significant triggers. The most frequent symptoms were ataxia and limb spasticity. All MRI scans displayed deep white matter involvement, cystic degeneration, with U-fibers relatively spared and a predilection for the frontoparietal region. Lesions in the corpus callosum and posterior fossa were present in all patients. Follow-up exams revealed the evolution of white matter lesions and cerebral atrophy, which correlated with clinical deterioration. VWM affects various age groups, with a significant clinical and genetic variability. A novel mutation associated with the disease is highlighted. MRI reveals a typical pattern of white matter involvement, characterized by diffuse lesions in the periventricular and deep regions, with subsequent extension to the subcortical areas, accompanied by cystic degeneration, and plays a crucial role in diagnosis and follow-up.

Digital strategy in Brazilian family business

Digital strategy in Brazilian family business

ICTS in Brazilian family farming: facing isolation and digital exclusion

The article records the evolution of primary data made by the Brazilian Institute of Geography and Statistics (IBGE) with the aim of understanding the progressive digital inclusion in the Brazilian rural world. We revisit in an updated perspective a survey that originates in 2006 and continues until 2022, relating the consumption of ICTs by Brazilian family farming. The importance of mobile phones is highlighted, anticipating the arrival of Smartphones and the Internet in rural areas. The exodus of young people, especially girls, is a reality even in family farming. Masculinization and aging are constant in rural reality, aspects that greatly contribute to the wear and tear of the social fabric. The analysis of the evolution of primary data on the presence of ICTs allows us to understand the characteristics of digital inclusion in the Brazilian rural world. At the end, we present our reflection on the potential of ICTs in the context of gender and generation relations for rural development policies.

Neurogenetic Intersection: A Fascinating CMT-CIDP Overlap in a Brazilian Family (P2-11.012)

Neurogenetic Intersection: A Fascinating CMT-CIDP Overlap in a Brazilian Family (P2-11.012)

Adoptive Parent-Child Interaction Quality During the COVID-19 Pandemic in Brazil

ABSTRACT This study presents findings derived from an investigation into parent-child interactions among Brazilian adoptive families conducted through online recording and analysis. Participating parents enrolled in an online Parental Training Program titled Adoption: Beginning of New Bonds, which emphasized parental reflective function. Data collection spanned from March to November 2021, coinciding with the isolation measures imposed by the COVID-19 pandemic in Brazil. The study aimed to delineate interaction patterns within the sampled group and assess whether any alterations occurred in these patterns pre- and post-program participation. The sample consisted of 23 adoptive parents who had adopted a child under the age of five from the public child welfare system. Video recordings of parent-child free play sessions were collected online both before and after program participation. Results indicated a significant difference in the proportion of parents demonstrating sensitivity toward their child, accompanied by a noticeable trend toward enhanced quality in child interaction with their caregivers. Furthermore, this study offers valuable insights for refining observational instruments within the context of adoption.

The importance of small producers and their difficulty in accessing rural credit

The activities carried out by Brazilian family farmers form the foundation for the regional, economic, and social development of the country. Not only do these endeavors generate employment, but they also contribute to an enhancement of food security for the Brazilian population. Therefore, the overall objective of this study is to substantiate the real importance of the small producer and to investigate the primary causes that hinder their access to credit lines, thereby impeding the progression of regional agriculture. The significance of the small producer arises from their role in supplying a larger portion of the national territory with food. Additionally, they produce food free from harmful chemical processes that pose risks to public health, while also significantly reducing environmental degradation compared to the methods employed in large-scale agricultural productions. Regarding the methodological procedures, the research is explanatory, aiming to elucidate the causes that make credit access challenging. Both primary and secondary sources were used. The research can also be considered quantitative, as it involved the analysis of a phenomenon through statistical and theoretical data. In terms of results, a greater difficulty in accessing rural credit lines by small producers was observed. According to the analyses, the lower the income, the more challenging it is for farmers to secure credit. Based on the findings, adjustments and necessary changes in relation to rural credit have been identified.