Análise dos discursos e imagens presentes no capítulo sobre Educação Física Escolar no Guia de Atividade Física para a População Brasileira / Analysis of the discourses and images present in the chapter on school physical education in the Guide to Physical Activity for the Brazilian Population / Análisis de los discursos e imágenes presentes en el capítulo sobre educación física escolar de la Guía de Actividad Física para la Población Brasileña

RESUMO O objetivo deste trabalho foi analisar os discursos e imagens sobre a Educação Física Escolar presentes no Guia de Atividade Física para a População Brasileira. Realizou-se uma pesquisa documental, de abordagem qualitativa, a partir da análise do discurso e do conteúdo visual envolvendo o capítulo. A Educação Física Escolar, nas recomendações do guia, assume uma visão funcionalista e utilitarista do movimento humano. Entende-se o avanço promovido pelo guia, sobretudo ao incentivar e valorizar a Educação Física Escolar no Brasil. Contudo, é fundamental transformar o discurso vigente, de caráter predominantemente biomédico, em uma abordagem que valorize a cultura corporal em suas múltiplas contribuições para a formação dos estudantes.

ABSTRACT The aim of this work was to analyze the discourses and images about school physical education present in the Guide of Physical Activity for the Brazilian Population. A documental research of qualitative approach was carried out, based on the Discourse Analysis and the Visual Content involving the chapter. School physical education, in the recommendations of the Guide, assumes a functionalist and utilitarian view of human movement. It is understood the progress promoted by the Guide, especially by encouraging and valuing school physical education in Brazil. However, it is essential to transform the current discourse, predominantly biomedical, into an approach that values body culture in its multiple contributions to the formation of students.

Resumen El objetivo de este trabajo fue analizar los discursos e imágenes sobre la educación física escolar presentes en la Guía de Actividad Física para la Población Brasileña. Se realizó una investigación documental, de enfoque cualitativo, a partir del Análisis del Discurso y del Contenido Visual que involucra el capítulo. La educación física escolar, en las recomendaciones de la Guía, asume una visión funcionalista y utilitaria del movimiento humano. Se entienden los avances promovidos por la Guía, especialmente por el fomento y la valoración de la educación física escolar en Brasil. Sin embargo, es imprescindible transformar el discurso actual, predominantemente biomédico, en un enfoque que valore la cultura corporal en sus múltiples aportaciones a la formación de los estudiantes.

Internet Addiction among Brazilian Students in Japan - A Questionnaire-based Cross-sectional Study / 日本プライマリ・ケア連合学会誌

Introduction: To elucidate the issues surrounding adolescents' Internet use in social minority groups, this study investigated the current situation of Internet addiction among Brazilian students who live in A city in Japan.Methods: The participants were 342 local Brazilian students attending international schools. A cross-sectional study using a self-administered questionnaire in Brazilian-Portuguese was conducted. As a primary outcome, we used Young's Internet Addiction Test (IAT) to evaluate the level of self-reported Internet addiction. Social demographics (i.e. age, sex, etc. ), lifestyle (i.e. the time for Internet use, sleeping hours, etc. ), and depressive tendency (Patient Health Questionnaire 2, PHQ2) were also assessed. The χ-square test and logistic regression analysis were used for analysis.Results: The response rate was 65% (222; 111 males and 111 females). Factors related to an IAT score of 50 or higher were sleeping hours (<7.5 hours) (OR: 0.38, 95%CI: 0.21-0.68), the time for Internet use (≥4 hours) (2.6, 1.4-4.8), and PHQ2 score (≥3) (6.2, 3.3-11.5). On logistic regression analysis, an IAT score ≥50 was positively associated with the time for Internet use and PHQ2 score ≥3.Conclusion: The self-report of high Internet addiction among Brazilian students in A city in Japan was significantly related to the time for Internet use and depressive tendency.

Brazilian version of the Sociocultural Attitudes towards Appearance Questionnaire (SATAQ-3) for adolescents / Versão brasileira do Questionário de Atitudes Socioculturais em Relação à Aparência (SATAQ-3) para adolescentes / Versión brasileña del Cuestionario sobre Actitudes Socioculturales Hacia la Apariencia (SATAQ-3) para adolescentes

The study adapted the Questionnaire of Sociocultural Attitudes Regarding Appearance (SATAQ-3) for Brazilian adolescents. We tested the factorial structure using confirmatory factorial analysis (CFA), exploratory factorial analysis (EFA), concurrent validity and internal consistency in 347 adolescents (171 males) aged 10-13 years. The AFC did not find a good fit of our sample to the models. The AFE, however, resulted in satisfactory adjustment, with factorial structure of six factors explaining slightly more than 50% of the variance. Correlations between SATAQ-3 scores and body image estimation and satisfaction indices, as well as the Body Mass Index, showed concurrent validity of the instrument. The internal consistency is adequate for the general sample and for groups stratified by sex (α Cronbach> 0.804). It has been shown that SATAQ-3 is suitable for administration to Brazilian adolescents aged 10-13 years to analyze sociocultural pressures and the internalization of appearance ideals.

O estudo adaptou o Questionário de Atitudes Socioculturais em Relação à Aparência (SATAQ-3) para adolescentes brasileiros. Testamos a estrutura fatorial utilizando análise fatorial confirmatória (AFC), análise fatorial exploratória (AFE), validade concorrente e consistência interna em 347 adolescentes (171 masculinos) com 10-13 anos. A AFC não encontrou um bom ajuste da nossa amostra aos modelos. A AFE, no entanto, resultou em ajuste satisfatório, com estrutura fatorial de seis fatores explicando ligeiramente mais de 50% da variância. Correlações entre os escores do SATAQ-3 e os índices de estimação e satisfação com a imagem corporal, além do Índice de Massa Corporal, mostraram validade concorrente do instrumento. A consistência interna é adequada para a amostra geral e para grupos estratificados por sexo (α Cronbach > 0,804). Demonstrou-se que o SATAQ-3 é adequado para a administração a adolescentes brasileiros de 10-13 anos para analisar as pressões socioculturais e a internalização dos ideais de aparência.

El estudio adaptó el Questionario de Actitudes Socioculturales con Respecto a la Apariencia (SATAQ-3) para adolescentes brasileños. Probamos la estructura factorial mediante análisis factorial confirmatorio (CFA), análisis factorial exploratorio (EFA), validez concurrente y consistencia interna en 347 adolescentes (171 hombres) de 10-13 años. La AFC no encontró buen ajuste de nuestra muestra a los modelos. Sin embargo, la AFE resultó en ajuste satisfactorio, con estructura factorial de seis factores explicando poco más del 50% de la varianza. Correlaciones entre los puntajes SATAQ-3 y los índices de estimación y satisfacción de la imagen corporal, así como el Índice de masa corporal, mostraron validez concurrente del instrumento. La consistencia interna es adecuada para la muestra general y para los grupos estratificados por sexo (α Cronbach> 0.804). Se ha demostrado que SATAQ-3 es adecuado para administración a adolescentes brasileños de 10-13 años para analizar las presiones socioculturales y la internalización de los ideales de apariencia.

Psychometric properties of the Brazilian version of the lived experience component of the Spiritual Health And Life-Orientation Measure (SHALOM)

Abstract This study had the following aims: (i) to translate the Spiritual Health and Life-Orientation Measure (SHALOM) into Brazilian Portuguese and adapt it to ensure the semantic/conceptual equivalence and content validity of the Brazilian version and (ii) to analyse the psychometric properties—reliability, convergent validity, discriminant validity and factorial validity—of the lived experience component, also called the Spiritual Well-Being Questionnaire (SWBQ), in a calibration sample and in a validation sample of Brazilian adults. The calibration sample comprised 436 subjects, 159 men and 277 women, aged between 18 and 79 years (mean age = 32.20 years; SD = 11.46); the validation study sample comprised 388 subjects, 253 women and 135 men, aged between 18 and 59 years (mean age = 30.59 years; SD = 9.44). All subjects completed a sociodemographic questionnaire, the Brazilian SWBQ and the Psychological Well-being Scale (PWBS). The results provide evidence of the reliability and factorial validity of an oblique four-factor model of a reduced 17-item version but revealed some problems with the convergent validity of the communal and personal factors (average variance extracted < .50). Nonetheless, these results provide evidence that the Brazilian version of the lived experience component of SHALOM (or SWBQb) has good psychometric properties and is a valid method of evaluating the spiritual health of Brazilian adults. Further research is required to establish the convergent and discriminant validity of this reduced version.

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients

Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels..

Validation of QF-PCR for prenatal diagnoses in a Brazilian population

OBJECTIVES: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory. METHOD: A ChromoQuant QF-PCR kit containing 24 primer pairs targeting loci on chromosomes 21, 13, 18, X and Y was employed to identify aneuploidies of the referred chromosomes. RESULTS: A total of 162 amniotic fluid samples analyzed using multiplex QF-PCR were compared with karyotyping analysis. The QF-PCR results were consistent with the results of cytogenetic analysis in 95.4% of all samples. CONCLUSION: QF-PCR was demonstrated to be efficient and reliable for prenatal aneuploidy screening. This study suggests that QF-PCR can be used as a rapid diagnostic method. However, rearrangements and some mosaic samples cannot be detected with this test; thus, those exceptions must undergo cytogenetic analysis.

Análise de paradados do Censo Demográfico 2010: uma investigação de fatores associados a erros não amostrais do levantamento de dados / Análisis de los paradatos del Censo Demográfico 2010: una investigación de los factores asociados a errores no muestrales en la etapa de relevamiento de los datos / Paradata analysis of the 2010 Population Census: investigation of factors associated with nonsampling errors in the data collection stage

Resumo A relevância de um Censo Demográfico para o sistema de estatísticas públicas de uma nação é indiscutível do ponto de vista de sua abrangência temática e territorial. Em contrapartida, sua complexidade e dimensão levam a desafios na garantia da qualidade de seus resultados. O presente artigo tem por objetivo apresentar os possíveis fatores associados a erros não amostrais detectados na coleta das informações, mediante a análise de paradados e dos microdados do Censo Demográfico brasileiro de 2010. Os dados utilizados provêm das informações sobre a operação de coleta e administração da pesquisa oriundas, respectivamente, do sistema de gerenciamento de recursos humanos do pessoal de coleta e do sistema de supervisão da operação de coleta, ou seja, os paradados. Também se utilizam os microdados do universo do Censo Demográfico. Neste estudo foram analisadas as divergências observadas entre as informações coletadas pelos recenseadores e aquelas obtidas por supervisores nas reentrevistas realizadas em procedimentos de supervisão do trabalho de campo. Para análise de divergências detectadas entre os dados coletados por recenseadores e supervisores, foram empregados modelos hierárquicos generalizados. Os resultados mostram que existem diferenciais nas divergências associados à estrutura de coleta dos dados e às características dos recenseadores, supervisores e informantes, além de revelarem diferenças regionais. Fica evidente, sobretudo, uma forte influência das características do informante nas chances de ocorrência das divergências, em detrimento das características dos supervisores e recenseadores. Os resultados da modelagem estatística sugerem que as entrevistas realizadas com informantes do sexo masculino, analfabetos ou com baixa escolaridade, mais velhos e que vivem em domicílios com indicadores que refletem condições de vida menos satisfatórias apresentam aumento nas chances em favor da ocorrência de divergências entre respostas coletadas por recenseador e supervisor.

Abstract The relevance of a population census for a national statistical system is undeniable for its thematic and territorial coverage. Nonetheless, the complexity and size of a census operation lead to challenges for ensuring timeliness and quality of the results. This paper presents potential factors associated with non sampling errors detected in the data collection stage based on the analysis of Brazilian 2010 Population Census microdata and paradata. Data obtained from the field work monitoring system, called paradata, is used to provide information about divergences observed between data collected by enumerators and supervisors, also it is used the census microdata. The latter carried out follow-up interviews in households selected by the supervision/monitoring plan. Human resources databases containing socio-demographic information of enumerators and supervisors is also brought to enhance the analysis. The statistical modeling utilized is generalized hierarchical models, in which the response variable is defined as the occurrence of a discrepancy (or divergence) between the information collected by enumerators and their supervisors. The results indicate that the different hierarchical levels investigated are relevant to decompose data variability and hence have to be considered in the analysis. However, respondents’ characteristics have markedly more influence on the chances of a divergence than those of enumerators’ and supervisors’. In addition, there is evidence that respondents who are male, illiterate (or with low educational level), older and living in households with indicators reflecting poor life conditions present higher odds in favor of the occurrence of divergences on data collected by enumerator and supervisor.

Resumen La relevancia de un censo para el sistema de estadísticas públicas de una nación es indiscutible desde el punto de vista de su cobertura temática y territorial. Por otra parte, su complejidad y dimensión conducen a desafíos para garantizar la calidad de sus resultados. Este artículo tiene como objetivo presentar los posibles factores asociados a errores no muestrales detectados durante el relevamiento de los datos, mediante el análisis de los paradatos y microdatos del Censo Demográfico brasileño de 2010. Los paradatos se refieren a informaciones sobre la operación de relevamiento y la administración de la investigación originarias, respectivamente, del sistema de gestión de recursos humanos del personal dedicado a la recogida y del sistema de supervisión de la operación de recolección. Este estudio analizó las divergencias observadas entre las informaciones recogidas por los encuestadores y las informaciones obtenidas por los supervisores en las reentrevistas de los procedimientos de supervisión del trabajo de campo. Para el análisis de las divergencias entre informaciones recogidas por los encuestadores y supervisores se utilizaron modelos jerárquicos generalizados. El estudio muestra que hay diferencias en las discordancias asociadas con la estructura de relevamiento de los datos, con las características de los encuestadores, supervisores e informantes, y revelan diferencias regionales. Queda evidente, sobretodo, una fuerte influencia de las características del informante en las posibilidades de ocurrencia de divergencias, en detrimento a las características de los supervisores y encuestadores. Los resultados del modelo estadístico sugieren que las entrevistas realizadas con informantes del sexo masculino, analfabetos o con bajo nivel educativo, mayores y que viven en hogares con indicadores que reflejan condiciones de vida menos satisfactorias, presentan chances adicionales en favor de la ocurrencia de divergencia entre las respuestas recogidas por el encuestador y el supervisor.

Facial anthropometric analysis of a healthy group of young Brazilian adults by means of stereophotogrammetry technique / Análise antropométrica facial de um grupo de jovens adultos brasileiros saudáveis por meio da técnica da estereofotogrametria

Introduction: Anthropometry is the science responsible for measuring the weight, size, and proportions of the human body, providing valuable and objective insights into how to characterize phenotypic variation and dysmorphology. Among the newer methods for facial analysis, the stereophotogrammetry technique has shown excellent results given its use of a group of fast cameras that photograph subjects from multiple angles. Objective: The aims of the present study were: (1) to analyze the facial profile of a group of healthy young Brazilian adults, between 18 and 30 years of age, (2) to define common facial values among the subjects, (3) to create a database of facial measurements of a portion of this young healthy Brazilian population to be used in future works, and (4) to test the precision and repeatability of the Vectra M3® equipment. Material and method: Sixty healthy young Brazilian adults participated in the study, 30 males and 30 females. Temporary craniometrical landmarks were performed in soft tissue, and those subjects underwent image capturing by the stereophotogrammetry technique. Thirty landmarks were used to take the measurements (in mm) of 35 distances. The equipment repeatability was tested in 20% of the sample (i.e., 12 subjects). Result: The values between the first and second acquisitions were statistically (p<0.05) similar for all 35 distances analyzed. The findings allowed the creation of a reliable database containing facial distances of a portion of the young healthy Brazilian population. In addition, the distances Tr-N, N-Sn, Ls-Sto, Sto-Li, En[r]-En[l] and Prn-Sn were not statistically different for the group of men (GM) and the group of women (GW), while the other 29 distances were significantly greater in GM. Conclusion: The technique and methods employed in the study yielded objective analyses of the facial profile of this group of healthy young Brazilian adults, and the equipment Vectra M3® showed a high level of precision and repeatability.

Introdução: Antropometria é a ciência responsável por medir o peso, tamanho e proporções do corpo humano, fornecendo informações objetivas e confiáveis para caracterizar variações e dismorfismos fenotípicos. Entre os novos métodos de análise facial, a técnica da estereofotogrametria tem mostrado excelentes resultados devido o uso de um grupo de câmeras capazes de fotografar sujeitos em múltiplos ângulos. Objetivo: Os objetivos deste estudo foram: (1) analisar o perfil facial de um grupo de jovens adultos saudáveis brasileiros, entre 18 e 30 anos, (2) definir valores comuns entre os sujeitos, (3) criar uma base de dados de medidas faciais de uma porção desta população jovem adulta de brasileiros para ser utilizada em trabalhos futuros, e (4) testar a precisão e repetibilidade do equipamento Vectra M3®. Material e método: Sessenta jovens adultos brasileiros participaram deste estudo, 30 homens e 30 mulheres. Pontos de referência craniométricos temporários foram realizados em tecido mole, e estes sujeitos foram fotografados pela técnica da estereofotogrametria. Trinta pontos de referência foram usados para realizar as medições (em mm) de 35 distâncias. A repetibilidade do equipamento foi testada em 20% da amostra (12 sujeitos). Resultado: Os valores entre a primeira e a segunda aquisição foram estatisticamente (p<0,05) similares para todas as 35 distancias analisadas. Os achados possibilitaram a criação de um banco de dados confiável contendo distâncias de uma porção da população jovem adulta saudável brasileira. Além disso, as distâncias Tr-N, N-Sn, Ls-Sto, Sto-Li, En[r]-En[l] e Prn-Sn não foram estatisticamente diferentes entre o grupo de homens (GM) e o grupo de mulheres (GW), enquanto as outras 29 distâncias foram significativamente maiores em GM. Conclusão: A técnica e os métodos empregados neste estudo possibilitaram análise objetiva do perfil facial de um grupo de jovens adultos saudáveis brasileiros, e o equipamento Vectra M3® mostrou alto nível de precisão e reprodutibilidade.

Tabagismo e pobreza no Brasil: uma análise do perfil da população tabagista a partir da POF 2008-2009 / Smoking and poverty in Brazil: an analysis of the profile of the smoking population based on the 2008-09 Brazilian government Family Budget Survey

Resumo O artigo visa caracterizar a população brasileira que consome artigos relacionados ao tabagismo. Para isso utilizou-se os microdados da POF 2008-2009 do IBGE. Empregou-se definição semelhante à do IBGE que define a pessoa como tabagista quando há o dispêndio de renda com esse produto e derivados, e não o ato dela ser fumante ou não. As características empregadas foram idade, sexo, cor da pele, escolaridade, regiões geográficas e faixas de renda. A metodologia para estimar os resultados considerou o desenho amostral e se utilizou de estatística descritiva, além da aplicação de testes estatísticos. Os resultados mostram que em torno de 10% da população brasileira têm gastos financeiros com produtos derivados do tabaco, possuem renda e escolaridade menores e idade mais avançada que os não tabagistas. Da renda dos indivíduos, 1,5% é despendida com esses produtos e, além disso, verificou-se que a população tabagista é majoritariamente masculina. O valor dispendido com tabaco causa impactos expressivos no orçamento doméstico, dado que esses valores poderiam ser direcionados para atender outras necessidades mais prementes na unidade familiar. Embora existam diversas estratégias de monitoramento, prevenção e combate ao tabagismo, o conhecimento do perfil de sua população pode tornar a estratégia mais eficaz.

Abstract This paper aims to characterize the Brazilian population who spent money with tobacco products. POF dataset was used from IBGE of the years 2008 and2009. The same definition that IBGE usually use for tobacco consumer was applied, which is someone has spent money with any kind of tobacco products and its derivatives. It was used individual aspects taking into account such as gender, schooling, age (over 14 years old), income lines, regions and ethnics to characterize these populations. Descriptive statistics were employed to estimate the results and the complex sample design of the survey was considered. According to our results, on average, 10% of the Brazilian population have spent money with tobacco products. Besides, these people are older, earn low salaries and have less schooling than someone who does not consume tobacco. Moreover, for this population 1.5% of the family budget is spent on tobacco products. Last but not least, the most of tobacco consumers are men. In general, money which is spent on tobacco products can cause impressive effects on domestic budget because this value could supply other important necessities to the family. Although there are many monitoring and prevention strategies to avoid tobacco consume, deep knowledge about this population that actually consume these products can increase the efficacy of more specific policies.

ACE I/D Polymorphism in Brazilian Women with Endometriosis / Polimorfismo ACE I/D em Mulheres Brasileiras com Endometriose

Endometriosis is a chronic gynecological disease that displays some features similar to malignancy, such as local invasion, aggressive spread to distant organs and angiogenesis. Polymorphisms of the ACE gene have been linked with some vascular disease. To determine the frequency of the ACE I/D polymorphism in Brazilian patients with endometriosis compared to controls. This case-control study included a total of 134 women (49 endometriosis patients and 85 controls) who had undergone a laparoscopy or laparotomy. Molecular analysis was performed by polymerase chain reaction (PCR). For the statistical analysis, the chi-square and multiple logistic regression tests were used. The I/D ACE genotype frequencies in cases and controls were, respectively: II 16.3% and 16.5%; ID 24.5% and 20%; DD 59.2% and 63.5%. There was no statistically significant difference between cases and controls, either in the genotype frequencies (χ2 = 0.385; p = 0.825) or in the allele frequencies (χ2 = 0.098; p = 0.75) of the ACE I/D polymorphism. However, the genotype distribution was not consistent with the Hardy-Weinberg equilibrium, either in patients (χ2 = 7.84; p = 0.005) or in controls (χ2 = 20.09; p <0.0001). Multiple logistic regression analysis has not shown any differences amongst groups for the polymorphism studied [(OR 1.51; CI 95% 0.52- 4.41); p=0.4523]. Despite of the small sample size, the present study suggests that I/D ACE polymorphism is not related with endometriosis in brazilian patients.(AU)

A endometriose é uma doença ginecológica crônica que apresenta algumas características semelhantes à malignidade, tais como invasão local, disseminação para órgãos distantes e angiogênese. Polimorfismos no gene ACE têm sido relacionados com algumas doenças vasculares. Determinar a frequência do polimorfismo ACE I/D em pacientes brasileiros com endometriose em comparação aos controles. Estudo caso-controle que incluiu um total de 134 mulheres (49 pacientes com endometriose e 85 controles) que se submeteram a uma laparoscopia ou laparotomia. A análise molecular foi realizada por Reação em Cadeia da Polimerase (PCR). A análise estatística utilizou os testes de qui-quadrado e regressão logística. As frequências genotípicas ACE I/D em casos e controles foram, respectivamente: II 16,3% e 16,5%; ID 24,5% e 20%; DD 59,2% e 63,5%. Não houve diferença estatisticamente significativa entre os casos e controles, tanto nas frequências genotípicas (χ2 = 0,385; p = 0,825) ou nas frequências alélicas (χ2 = 0,098; p = 0,75) do polimorfismo ACE I/D. Entretanto, a distribuição genotípica não foi consistente com o equilíbrio de Hardy-Weinberg, tanto nos pacientes (χ2 = 7,84; p = 0,005) ou nos controles (χ2 = 20,09; p <0,0001). A análise de regressão logística não mostrou qualquer diferença entre os grupos para o polimorfismo estudado [(OR 1,51; CI 95% 0,52-4,41); p=0,4523]. Apesar do pequeno número de amostras, o presente estudo mostra que em pacientes brasileiras o polimorfismo ACE I/D não está relacionado com endometriose.(AU)

Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis

Abstract GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. We found the previously described p.Thr500Ala mutation in 8 alleles; c.1622-1627insG and p.Arg59His in 2 alleles (the latter also segregating with c.1233+8T>C); and p.Phe107Leu, p.Leu173Pro, p.Arg201His, and p.Gly311Arg in 1 allele each. Two mutations (p.Ile354Ser and p.Thr384Ser) and 1 neutral alteration (p.Pro152=) are described for the first time. All patients presented as compound heterozygotes. A discussion on genotype-phenotype correlation is also presented.

Análise crítica da qualidade da dieta da população brasileira segundo o Índice de Alimentação Saudável: uma revisão sistemática / Critical analysis of the diet quality of the Brazilian population according to the Healthy Eating Index: a systematic review

Resumo Diante da importância de estudar instrumentos que avaliem a qualidade alimentar da população, este trabalho se propõe realizar uma revisão sistemática sobre o Índice de Alimentação Saudável como instrumento utilizado para avaliar a qualidade da dieta da população brasileira, analisando suas metodologias e resultados. Para a seleção de estudos foram utilizadas as principais bases eletrônicas de dados. Após as buscas com os descritores, foram incluídos 32 artigos. Observou-se o crescente interesse da comunidade científica na abordagem deste tema, sendo recentes os estudos que utilizam esse instrumento no Brasil. Foram avaliadas e discutidas as questões metodológicas dos artigos, considerando as versões revisadas, bem como as adaptações do IAS. Foram destacados alguns resultados comuns entre os estudos como o baixo consumo de frutas, vegetais e/ou leite e derivados e maior consumo dos grupos de carnes e ovos, colesterol, gordura total e gordura saturada. Dentre os artigos que abordaram o IAS e aspectos socioeconômicos, pode-se observar na população estudada que a qualidade da dieta melhora tanto de acordo com o aumento da escolaridade dos pais quanto com a renda da família. O IAS pode ser utilizado para monitorar mudanças no padrão alimentar, bem como ferramenta de educação nutricional e promoção da saúde.

Abstract In light of the importance of studying instruments that assess the food quality of the population, this study sought to conduct a systematic review of the quality of the diet of the Brazilian population using the Healthy Eating Index (HEI) and duly analyzing its methodology and results. The major electronic databases were used for the selection of studies. After the searches with the key words, 32 articles were included in this review. The growing interest of the scientific community in addressing this issue was observed, with recent studies using this instrument in Brazil. Methodological issues of articles were evaluated and discussed taking into consideration the revised versions and adaptations of the HEI. Some common results were highlighted among the studies such as low consumption of fruit, vegetables and/or dairy products, and the wider consumption of meat and eggs, cholesterol, total fat and saturated fat. Among the articles that address the HEI and socioeconomic aspects it was seen that quality of diet improves both in accordance with the increasing level of education of parents and with the family income in the population studied. The HEI can be used to monitor changes in dietary patterns and also as a nutrition education and health promotion tool.

IGF2, LEPR, POMC, PPARG, and PPARGC1 gene variants are associated with obesity-related risk phenotypes in Brazilian children and adolescents

Association studies of genetic variants and obesity and/or obesity-related risk factors have yielded contradictory results. The aim of the present study was to determine the possible association of five single-nucleotide polymorphisms (SNPs) located in the IGF2, LEPR, POMC, PPARG, and PPARGC1 genes with obesity or obesity-related risk phenotypes. This case-control study assessed overweight (n=192) and normal-weight (n=211) children and adolescents. The SNPs were analyzed using minisequencing assays, and variables and genotype distributions between the groups were compared using one-way analysis of variance and Pearson's chi-square or Fisher's exact tests. Logistic regression analysis adjusted for age and gender was used to calculate the odds ratios (ORs) for selected phenotype risks in each group. No difference in SNP distribution was observed between groups. In children, POMC rs28932472(C) was associated with lower diastolic blood pressure (P=0.001), higher low-density lipoprotein (LDL) cholesterol (P=0.014), and higher risk in overweight children of altered total cholesterol (OR=7.35, P=0.006). In adolescents, IGF2 rs680(A) was associated with higher glucose (P=0.012) and higher risk in overweight adolescents for altered insulin (OR=10.08, P=0.005) and homeostasis model of insulin resistance (HOMA-IR) (OR=6.34, P=0.010). PPARG rs1801282(G) conferred a higher risk of altered insulin (OR=12.31, P=0.003), and HOMA-IR (OR=7.47, P=0.005) in overweight adolescents. PARGC1 rs8192678(A) was associated with higher triacylglycerols (P=0.005), and LEPR rs1137101(A) was marginally associated with higher LDL cholesterol (P=0.017). LEPR rs1137101(A) conferred higher risk for altered insulin, and HOMA-IR in overweight adolescents. The associations observed in this population suggested increased risk for cardiovascular diseases and/or type 2 diabetes later in life for individuals carrying these alleles.

Perfil epidemiológico da espondiloartrite de início juvenil comparada com a espondiloartrite de início na vida adulta em uma grande coorte brasileira / Epidemiologic profile of juvenile-onset compared to adult-onset spondyloarthritis in a large Brazilian cohort

Objetivo Analisar as características clínicas e epidemiológicas das espondiloartrites (EpA) de início juvenil (< 16 anos) e compará-las com um grupo de pacientes com EspA de início na vida adulta (≥ 16 anos). Pacientes e métodos Coorte prospectiva, observacional e multicêntrica com 1.424 pacientes com diagnóstico de EspA de acordo com o European Spondyloarthropathy Study Group (ESSG) submetidos a um protocolo comum de investigação e recrutados em 29 centros de referência participantes do Registro Brasileiro de Espondiloartrites (RBE). Os pacientes foram divididos em dois grupos: idade no início<16 anos (grupo EspAiJ) e idade no início ≥ 16 anos. Resultados Entre os 1.424 pacientes, 235 manifestaram o início da doença antes dos 16 anos (16,5%). As variáveis clínicas e epidemiológicas associadas com a EspAiJ foram: gênero masculino (p<0,001), artrite em membro inferior (p=0,001), entesite (p=0,008), uveíte anterior (p=0,041) e HLA-B27 positivo (p=0,017), em associação com escores mais baixos de atividade da doença (Bath Ankylosing Spondylitis Disease Activity Index – BASDAI; p=0,007) e de capacidade funcional (Bath Ankylosing Spondylitis Functional Index – BASFI; p=0,036). A psoríase cutânea (p<0,001), a doença inflamatória intestinal (p=0,023), a dactilite (p=0,024) e o envolvimento ungueal (p=0,004) foram mais frequentes em pacientes com EspA de início na vida adulta. Conclusões Nessa grande coorte brasileira, os pacientes com EspAiJ se caracterizavam predominantemente pelo gênero masculino, envolvimento periférico (artrite e entesite), HLA-B27 positivo e escores de doença mais baixos. .

Objective To analyze the clinical and epidemiologic characteristics of juvenile-onset spondyloarthritis (SpA) (< 16 years) and compare them with a group of adult-onset (≥ 16 years) SpA patients. Patients and methods Prospective, observational and multicentric cohort with 1,424 patients with the diagnosis of SpA according to the European Spondyloarthropathy Study Group (ESSG) submitted to a common protocol of investigation and recruited in 29 reference centers participants of the Brazilian Registry of Spondyloarthritis (RBE – Registro Brasileiro de Espondiloartrites). Patients were divided in two groups: age at onset<16 years (JOSpA group) and age at onset ≥ 16 years (AOSpA group). Results Among the 1,424 patients, 235 presented disease onset before 16 years (16.5%). The clinical and epidemiologic variables associated with JOSpA were male gender (p<0.001), lower limb arthritis (p=0.001), enthesitis (p=0.008), anterior uveitis (p=0.041) and positive HLA-B27 (p=0.017), associated with lower scores of disease activity (Bath Ankylosing Spondylitis Disease Activity Index – BASDAI; p=0.007) and functionality (Bath Ankylosing Spondylitis Functional Index – BASFI; p=0.036). Cutaneous psoriasis (p<0.001), inflammatory bowel disease (p=0.023), dactylitis (p=0.024) and nail involvement (p=0.004) were more frequent in patients with adult-onset SpA. Conclusions Patients with JOSpA in this large Brazilian cohort were characterized predominantly by male gender, peripheral involvement (arthritis and enthesitis), positive HLA-B27 and lower disease scores. .

Vacinação em pacientes da Coorte Brasília de artrite reumatoide inicial / Vaccination in patients from Brasília cohort with early rheumatoid arthritis

Introdução: Os pacientes com diagnóstico de artrite reumatoide (AR) apresentam risco aumentado de infecções. A vacinação é uma medida preventiva recomendada. Não há estudos avaliando a prática da vacinação nos pacientes com AR inicial. Objetivos: Avaliar a frequência de vacinação e a orientação (feita pelo médico) sobre vacinas entre os pacientes com diagnóstico de AR inicial. Métodos: Estudo transversal incluindo pacientes da coorte Brasília de AR inicial. Foram analisados dados demográficos, índice de atividade da doença (Disease Activity Score 28 - DAS28), incapacidade funcional (Health Assessment Questionnaire - HAQ), dados sobre tratamento e vacinação após o diagnóstico da AR. Resultados: Foram avaliados 68 pacientes, sendo 94,1% mulheres, com idade média de 50,7 ± 13,2 anos. O DAS28 foi de 3,65 ± 1,64, e o HAQ de 0,70. A maioria dos pacientes (63%) possuía cartão vacinal. Apenas cinco pacientes (7,3%) foram orientados pelo médico sobre uso das vacinas. Os pacientes foram vacinados para tríplice viral (8,8%), tétano (44%), febre amarela (44%), hepatite B (22%), gripe (42%), influenza H1N1 (61,76%), pneumonia (1,4%), meningite (1,4%) e varicela (1,4%). Todos os pacientes vacinados com vírus vivo atenuado estavam em uso de imunossupressores e receberam as vacinas de forma inadvertida, sem orientação médica. Não houve associação entre o uso de nenhuma vacina e atividade da doença, incapacidade funcional, anos de escolaridade, hábitos de vida, comorbidades. Conclusão: Os pacientes foram pouco orientados pelo médico com relação ao uso das vacinas, com elevada frequência de vacinação inadvertida com componente vivo atenuado, enquanto a imunização com vírus ...

Introduction: Patients with a diagnosis of rheumatoid arthritis (RA) are at increased risk of infections. Vaccination is a recommended preventive measure. There are no studies evaluating the practice of vaccination in patients with early RA. Objectives: To evaluate the frequency of vaccination and the orientation (by the doctor) about vaccines among patients with early RA diagnosis. Methods: Cross-sectional study including patients from the early RA Brasilia cohort. Demographic data, disease activity index (Disease Activity Score 28 - DAS28), functional disability (Health Assessment Questionnaire - HAQ), and data on treatment and vaccination after diagnosis of RA were analyzed. Results: Sixty-eight patients were evaluated, 94.1% women, mean age 50.7 ± 13.2 years. DAS28 was 3.65 ± 1.64, and HAQ was 0.70. Most patients (63%) had vaccination card. Only five patients (7.3%) were briefed by the doctor about the use of vaccines. Patients were vaccinated for MMR (8.8%), tetanus (44%), yellow fever (44%), hepatitis B (22%), influenza (42%), H1N1 (61.76%), pneumonia (1.4%), meningitis (1.4%), and chickenpox (1.4%). All patients vaccinated with live attenuated virus were undergoing immunosuppressive therapy, and were vaccinated inadvertently, without medical supervision. There was no association between the use of any vaccine and disease activity, functional disability, years of education, lifestyle, and comorbidities. Conclusion: Patients were infrequently briefed by the physician regarding use of vaccines, with high frequency of inadvertent vaccination with live attenuated component, while immunization with killed virus was below the recommended level. .

Multidrug resistance 1 gene polymorphisms may determine Crohn's disease behavior in patients from Rio de Janeiro

OBJECTIVES: Conflicting data from studies on the potential role of multidrug resistance 1 gene polymorphisms in inflammatory bowel disease may result from the analysis of genetically and geographically distinct populations. Here, we investigated whether multidrug resistance 1 gene polymorphisms are associated with inflammatory bowel diseases in patients from Rio de Janeiro. METHODS: We analyzed 123 Crohn's disease patients and 83 ulcerative colitis patients to determine the presence of the multidrug resistance 1 gene polymorphisms C1236T, G2677T and C3435T. In particular, the genotype frequencies of Crohn's disease and ulcerative colitis patients were analyzed. Genotype-phenotype associations with major clinical characteristics were established, and estimated risks were calculated for the mutations. RESULTS: No significant difference was observed in the genotype frequencies of the multidrug resistance 1 G2677T/A and C3435T polymorphisms between Crohn's disease and ulcerative colitis patients. In contrast, the C1236T polymorphism was significantly more common in Crohn's disease than in ulcerative colitis (p = 0.047). A significant association was also found between the multidrug resistance 1 C3435T polymorphism and the stricturing form of Crohn's disease (OR: 4.13; p = 0.009), whereas no association was found with penetrating behavior (OR: 0.33; p = 0.094). In Crohn's disease, a positive association was also found between the C3435T polymorphism and corticosteroid resistance/refractoriness (OR: 4.14; p = 0.010). However, no significant association was found between multidrug resistance 1 gene polymorphisms and UC subphenotypic categories. CONCLUSION: The multidrug resistance 1 gene polymorphism C3435T is associated with the stricturing phenotype and an inappropriate response to therapy in Crohn's disease. This association with Crohn's disease may support additional pathogenic roles ...

Study of landmarks in dried skulls in a Brazil population

Craniofacial bone variations, considered to be radiological landmarks, have been studied since the beginningof the century using dried skulls and cadavers. These pitfalls are important bone landmarks used in theplanning and execution of anesthetic and surgical procedures. The present study analyzed craniofacial bonevariations in dried skulls in terms of gender and laterality. Supraorbital foramen (SOF), mastoid foramen(MF), parietal foramen (PF), accessory oval foramen (aOF), anterior ethmoidal foramen (AEF), intermediateethmoidal foramen (iEF), posterior ethmoidal foramen (PEF), precondylar tubercle (PCT), metopism andsutural bones were assessed in male (n=20) and female (n=11) dried skulls by direct observation and using aMitutoyo caliper. No statistically significant differences were observed between genders as to SOF distancesto the medial nasal prominence and to superior orbital ridge, in both sides of skulls. The same was observedfor distances between FP and sagittal line and between FP and lambdoid suture. No multiple foramina weredetected. aOF was observed in 80.96% of skulls. Right aEF, iEF and PEF prevailed in female skulls. PCT wereseen in 35.5% of female skulls and in 64.5% of male skulls. MF occurrence was higher in right male skulls,and multiple foramina were present in 60% of male skulls (both sides), and in 36.4% of female skulls (bothsides). Only one skull presented sutural bone. No metopism was observed. The identification and recordingof craniofacial variations is important in the preparation of anesthetic blocks in surgical procedures and in theevaluation of regional neurovascular anatomy, to avoid misinterpretations in planning. This study confirms theexistence of significant morphological variations in terms of gender and side in a given population.

Valores de referência para níveis séricos do fator de crescimento semelhante à insulina tipo I (IGF-I) numa população adulta do Estado do Rio de Janeiro, Brasil / Reference ranges for serum levels of insulin-like growth Factor I (IGF-I) in an adult population of Rio de Janeiro State, Brazil

O nível sérico do Fator de crescimento semelhante à insulina tipo I (IGF-I) é fundamental para auxiliar no dignóstico e controle terapêutico dos transtornos relacionados à secreção do Hormônio de Crescimento (GH), bem como no diagnóstico e seguimento de outras doenças. Estabelecer valores de referência para as dosagens séricas de IGF-I por um ensaio imunoquimioluminométrico (ICMA), utilizando o sistema automatizado Immulite 2000/Diagnostic Products Corporation (DPC), e por um ensaio imunoradiométrico (IRMA), utilizando o kit comercial ACTIVE IGF-I/Diagnostic System Laboratories (DSL)-5600, numa população brasileira adulta da cidade do Rio de Janeiro. Este estudo, aprovado pelo Comitê de Ética do Instituto Estadual de Hematologia Arthur de Siqueira Cavalcanti, Rio de Janeiro, Brasil, incluiu amostras de 484 indivíduos saudáveis (251 homens e 233 mulheres) com idades entre 18 e 70 anos. As amostras foram estudadas por ICMA- Immulite 2000/DPC and IRMA- ACTIVE IGF-I/DSL-5600. Para análise dos dados foram utilizados modelos específicos para idade e sexo, após transformação dos dados de IGF-I. Foi observada uma lenta diminuição dos níveis de IGF-I com a idade usando ambos os ensaios. Os níveis de IGF-I foram signicativamente (p=0,0181) mais elevados em mulheres do que em homens, quando as amostras foram analisadas usando ICMA. Não houve diferença significativa dos níveis de IGF-I entre homens e mulheres quando as amostras foram analisadas usando IRMA. Este estudo estabeleceu valores de referência de IGF-I específicos para idade e sexo, determinados com o sistema automatizado ICMA-Immulite 2000/DPC, e valores de referência de IGF-I específicos para idade, determinados com o kit comercial IRMA- ACTIVE IGF-I/DSL-5600, em uma população adulta brasileira, da cidade do Rio de Janeiro

Serum level of insulin-like growth factor I (IGF-I) is fundamental in order to aid in the diagnosis and follow-up of growth hormone (GH)-related disorders, as well as in the diagnosis and follow-up of other diseases. The aim of this investigation was to determine reference values for IGF-I using an automated immunochemiluminometric assay (ICMA) system Immulite 2000/Diagnostic Products Corporation (DPC); and an immunoradiometric assay (IRMA), using the commercial kit ACTIVE IGF-I/Diagnostic System Laboratories (DSL)-5600, in an adult Brazilian population of Rio de Janeiro city. The study, approved by the Ethical Committee of the Instituto Estadual de Hematologia Arthur de Siqueira Cavalcanti, Rio de Janeiro, Brazil, included samples of blood taken from 484 healthy subjects (251men, 233 women) aged from 18 up to 70. The samples were analyzed by ICMA- Immulite 2000/DPC and IRMA- ACTIVE IGF-I/DSL-5600. For statistical analysis, age and sex-specific models were fitted after transformation of IGF-I values. In adulthood, a slow age-dependent decrease was found, using both assays. IGF-I in women were significantly (p=0,0181) higher than in men when samples were analayzed using ICMA.There was no significant difference between men and women IGF-I values when samples were analayzed using IRMA. The present study established age- and sex specific IGF-I reference values, determined with the automated system: ICMA-Immulite 2000/DPC and age-specific IGF-I reference values determined with the IRMA- ACTIVE IGF-I/DSL-5600, in an adult Brazilian population of Rio de Janeiro city

Marcadores Inserção/Deleção (Indel): estudo de ancestralidade e identificação humana na população brasileira / Insertion/Deletion (Indel) markers: ancestry and human identification study in the Brazilian population

Os polimorfismos denominados Indels são variações de comprimento geradas por inserção ou deleção de um ou mais nucleotídeos em uma sequência de DNA. Estes marcadores genéticos vêm apresentando um grande potencial para fins forenses e populacionais por combinar características dos marcadores SNPs, tais como a capacidade de analisar fragmentos curtos (menores que 250pb) e baixas taxas de mutação, com a facilidade da genotipagem dos STR em uma única PCR, seguida de detecção dos fragmentos amplificados por eletroforese. Com o objetivo de avaliar a eficiência dos Indels em aplicações forenses e esclarecer os detalhes da formação de diferentes populações brasileiras através de dados genéticos, amostras populacionais de diferentes estados brasileiros foram genotipadas através de dois sistemas multiplex. O primeiro (indelplex-HID) foi otimizado para fins de Identificação Humana (HID) e inclui um grupo de 38 marcadores Indels selecionados por apresentarem altos valores de diversidade genética dentro das principais populações continentais. Já o segundo (46-AI-indels), foi selecionado para estudos de ancestralidade e é composto por um conjunto de 46 marcadores informativos de ancestralidade (AIMs). Nesse último caso, ao contrário do anterior, o sistema multiplex inclui marcadores com alta divergência nas frequências alélicas entre populações continentais. Na primeira etapa, o multiplex HID foi aplicado em uma amostra populacional do Rio de Janeiro e em uma amostra populacional dos índios Terena...

Indels are length polymorphisms created by the insertion or deletion of one or more nucleotides in a DNA sequence. This type of genetic marker is potentially very useful for forensic and population genetic applications because it combines some desirable SNP features, such as the possibility of being analyzed in small fragments (less than 250bp), and low mutation rate, and in the same way as for the STRs it is easily genotyped in a single PCR followed by capillary electrophoresis detection of the amplified fragments. In order to evaluate the efficiency of Indels in forensic applications, and clarify some details on the formation of different Brazilian populations through genetic data, population samples from different Brazilian States were genotyped through two Indel multiplex systems. The first (Indelplex-HID) has been optimized for Human Identification (HID), and includes a group of 38 Indel markers selected by presenting similarly high values of genetic diversity within the main continental populations. The second (46-AI-indels) was selected for studies of ancestry, and it is composed by a set of 46 ancestry informative markers (AIMs). The latter, unlike the first one, includes markers with high divergence in allele frequencies among populations. In a first stage, the multiplex HID was used to study a population sample of Rio de Janeiro and a population sample of Terena Amerindians...