Association between the FTO gene polymorphism and obesity in Brazilian adolescents from the Northeast region / Relação do polimorfismo do gene FTO com a obesidade em adolescentes do nordeste brasileiro

Abstract Objective: To investigate the association between the FTO gene polymorphism with obesity in Brazilian adolescents from the Northeast region. Method: This was a case-control study with adolescents aged 18 to 19 years. The case group consisted of 378 obese individuals and the control group of 378 non-obese individuals. Obesity was measured by percentage of body fat using the air displacement plethysmography technique. The study variables included data on socioeconomics, demographics, lifestyle, physical activity, waist circumference, waist-to-height ratio, and body mass index. To identify the rs9939609 polymorphism of the FTO gene, blood samples were obtained for genomic DNA extraction by the real-time PCR (Polymerase Chain Reaction) technique. Categorical variables were compared between the groups by the chi-squared test. The normality of the anthropometric measurements body mass index, waist circumference, waist-to-height ratio, and percentage of body fat was evaluated by the Shapiro-Wilk test. Comparison of the anthropometric measurements, stratified by the polymorphism genotypes, was performed by the Kruskal-Wallis test. The Hardy-Weinberg equilibrium was calculated. The significance level was set at 5%. Results: The variables gender, age, and physical activity showed significant differences between the groups (p < 0.001). The samples of obese and non-obese adolescents were in Hardy-Weinberg equilibrium (p = 0.0515). There was no significant difference between the genotypic (p = 0.719) and allelic frequencies (p = 0.812) regarding the case and control groups. When comparing the anthropometric measurements according to the genotypes (AA, AT, and TT), no significant difference was observed for body mass index (p = 0.337), waist circumference (p = 0.3473), percentage of body fat (p = 0.7096), and waist-to-height ratio (p = 0.2584). Conclusion: The excess adiposity of the study adolescents was not influenced by their genotype.

Resumo Objetivo: Investigar a relação do polimorfismo do gene FTO com obesidade em adolescentes no Nordeste brasileiro. Método: Estudo caso-controle realizado com adolescentes de 18 a 19 anos. O grupo caso foi formado por 378 indivíduos obesos e o controle por 378 não obesos. Obesidade foi medida pelo percentual de gordura corporal pela técnica de pletismografia por deslocamento de ar. Variáveis em estudo englobam dados socioeconômicos, demográficos, hábitos de vida, atividade física, circunferência da cintura, razão cintura-estatura e índice de massa corporal. Para identificação do polimorfismo rs9939609 do gene FTO foram obtidas amostras de sangue para extração do DNA genômico pela técnica de PCR em tempo real. Variáveis categóricas foram comparadas entre os grupos pelo teste qui-quadrado. Normalidade das medidas antropométricas índice de massa corporal, circunferência da cintura, razão cintura-estatura e percentual de gordura corporal foram avaliados pelo teste Shapiro-Wilk. Comparação das medidas antropométricas, estratificadas pelos genótipos do polimorfismo, foi realizada pelo teste Kruskall-Wallis. Calculou-se o equilíbrio de Hardy-Weinberg. Nível de significância adotado de 5%. Resultados: As variáveis sexo, idade e atividade física apresentaram diferenças significativas entre os grupos (p < 0,001). As amostras dos adolescentes obesos e não obesos estavam em equilíbrio de Hardy-Weinberg (p = 0,0515). Não houve diferença significante entre as frequências genotípicas (p = 0,719) e alélicas (p = 0,812) em relação aos grupos caso e controle. Quando comparadas as medidas antropométricas segundo os genótipos (AA, AT e TT), não foi observada diferença significante do índice de massa corporal (p = 0,3337), circunferência da cintura (p = 0,3473), percentual de gordura corporal (p = 0,7096) e razão cintura-estatura (p = 0,2584). Conclusão: O excesso de adiposidade dos adolescentes em estudo não foi influenciado pelo genótipo.

Neural complications and physical disabilities in leprosy in a capital of northeastern Brazil with high endemicity / Complicações neurais e incapacidades em hanseníase em capital do nordeste brasileiro com alta endemicidade

INTRODUCTION: Leprosy is an infectious disease whose etiologic agent is Mycobacterium leprae, manifested by dermatological and neurological signs and symptoms. OBJECTIVE: To investigate neural changes and the degree of physical disability in the eyes, hands and feet before and after treatment, as well as sociodemographic and clinical profile of patients affected by leprosy. METHOD: A longitudinal epidemiological study comprising 155 patients with leprosy, from a spontaneous demand, diagnosed between March 2010 and February 2011, and treated with multidrug therapy (MDT) between March 2010 and July 2012 in a program for leprosy eradication in São Luis (MA), Brazil. RESULTS: Before treatment, 46.5% of patients were considered as borderline, 51.6% had some alteration in the eyes and 52.3% in the feet, and the radial nerve (18.7%) was the most affected. There was a statistically significant difference between the changes in the radial nerve at the beginning of and after treatment. CONCLUSIONS: The analysis points to late diagnosis, as some patients have had abnormal neural and physical disabilities before treatment. .

INTRODUÇÃO: A hanseníase é uma doença infectocontagiosa cujo agente etiológico é o Mycobacterium leprae, que se manifesta por sinais e sintomas dermatoneurológicos. OBJETIVO: investigar as complicações neurais e o grau de incapacidades físicas nos olhos, mãos e pés antes e após o tratamento, bem como o perfil sociodemográfico e clínico dos pacientes acometidos pela hanseníase. MÉTODO: Estudo epidemiológico do tipo longitudinal constituído por 155 pacientes com hanseníase, a partir da demanda espontânea, diagnosticados no período de março de 2010 a fevereiro de 2011 e tratados com poliquimioterapia (PQT) entre março de 2010 a julho de 2012, em um programa de eliminação da hanseníase, no município de São Luís (MA). RESULTADOS: Antes do tratamento, 46,5% dos pacientes apresentaram forma dimorfa, 51,6% possuíam alguma alteração nos olhos e 52,3% nos pés, sendo o nervo radial (18,7%) o mais acometido. Houve diferença estatisticamente significante entre as complicações do nervo radial no inicio e após o tratamento. CONCLUSÕES: Evidenciou-se a presença do diagnóstico tardio, posto que alguns pacientes já apresentavam complicações neurais e incapacidades físicas antes do tratamento. .

Factors associated with neural alterations and physical disabilities in patients with leprosy in São Luis, State of Maranhão, Brazil

Introduction Leprosy is a chronic infectious disease that is caused by Mycobacterium leprae. The objective of this study was to evaluate the risk factors that are associated with neural alterations and physical disabilities in leprosy patients at the time of diagnosis. Methods A prospective cross-sectional study was conducted on 155 leprosy patients who participated in a program that aimed to eliminate leprosy from São Luis, State of Maranhão. Results Patients who were 31-45 years of age, were older than 60 years of age or had a partner were more likely to have a disability. Patients with partners were 1.14 times more likely (p = 0.025) to have disabilities of the hands. The frequency of disabilities in the feet among the patients with different clinical forms of leprosy was statistically significant. Conclusions The identification of risk factors that are associated with neural alterations and physical disabilities in leprosy patients is important for diagnosing the disease because this approach enables physicians to plan and prioritize actions for the treatment and monitoring of patients. .

Spatial dynamics of urban populations of Lutzomyia longipalpis (Diptera: Psychodidae) in Caxias, State of Maranhão, Brazil

Introduction In this paper, we report the ecology of Lutzomyia longipalpis in Caxias City, located in the eastern part of State of Maranhão, Brazil and highlight its seasonal and geographical distribution by environment. In addition, we discuss natural Leishmania infection and its relationship with visceral leishmaniasis. Methods Between September 2007 and August 2009, the collection of sandflies was performed using Center for Disease Control (CDC) light traps from 15 houses in 5 selected neighborhoods. Results Lutzomyia longipalpis was present in all zones of the city. We also found that Lu. longipalpis was regularly detected both inside and around the house, predominantly in outdoor areas. In urban areas, Lu. longipalpis was present in both the dry and rainy seasons, with a higher density present in the latter. One female specimen of Lu. longipalpis was observed to have natural Leishmania infection. Conclusions The presence of Lu. longipalpis was observed throughout the year during 2 seasonal periods, with a predominance in the rainy season. A low rate of natural Leishmania infection was observed in urban areas during the rainy season. .

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency / Espectro clínico e molecular de pacientes com deficiência de 17β-hidroxiesteroide desidrogenase tipo 2 (17-β-HSD3)

The enzyme 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) catalyzes the conversion of androstenedione to testosterone in the testes, and its deficiency is a rare disorder of sex development in 46,XY individuals. It can lead to a wide range of phenotypic features, with variable hormonal profiles. We report four patients with the 46,XY karyotype and 17-β-HSD3 deficiency, showing different degrees of genital ambiguity, increased androstenedione and decreased testosterone levels, and testosterone to androstenedione ratio < 0.8. In three of the patients, diagnosis was only determined due to the presence of signs of virilization at puberty. All patients had been raised as females, and female gender identity was maintained in all of them. Compound heterozygosis for c.277+2T>G novel mutation, and c.277+4A>T mutation, both located within the intron 3 splice donor site of the HSD17B3 gene, were identified in case 3. In addition, homozygosis for the missense p.Ala203Val, p.Gly289Ser, p.Arg80Gln mutations were found upon HSD17B3 gene sequencing in cases 1, 2, and 4, respectively. Arq Bras Endocrinol Metab. 2012;56(8):533-9.

A enzima 17β-hidroxiesteroide desidrogenase tipo 3 (17-β-HSD3) catalisa a conversão de androstenediona a testosterona nos testículos, e sua deficiência é uma forma rara de distúrbio do desenvolvimento do sexo em indivíduos 46,XY. A desordem apresenta um amplo espectro de características fenotípicas e de resultados de dosagens laboratoriais. Neste trabalho, são relatados quatro casos de deficiência da 17-β-HSD3 com cariótipo 46,XY, ambiguidade genital em diversos graus, androstenediona aumentada, testosterona diminuída, e relação testosterona e androstenediona < 0,8. Em três das pacientes, o diagnóstico foi suspeitado devido à presença de sinais de virilização na puberdade. Todos os pacientes foram criados como mulheres, e a identidade de gênero feminino foi mantida em todas elas. A heterozigose composta da mutação nova c.277+2T>G e da mutação c.277+4A>T, ambas localizadas no sítio doador de splicing do íntron 3 do gene HSD17B3, foi identificada no caso 3. Além dessas, as mutações missense p.Ala203Val, p.Gly289Ser, p.Arg80Gln foram identificadas em homozigose pelo sequenciamento do gene HSD17B3 dos casos 1, 2 e 4, respectivamente. Arq Bras Endocrinol Metab. 2012;56(8):533-9.

Análise molecular da infecção natural de Lutzomyia longipalpis em área endêmica de leishmaniose visceral no Brasil / Molecular analysis of natural infection of Lutzomyia longipalpis in an endemic area for visceral leishmaniasis in Brazil

The main purpose of this study was to investigate natural infection by Leishmania chagasi in female sand flies in a visceral leishmaniasis (VL) focus on São Luís Island, Maranhão State, Brazil. Molecular analysis by polymerase chain reaction (PCR) was applied to determine the rate of natural infection of Lutzomyia longipalpis by L. chagasi in areas of old and recent human settlement on São Luís Island. Based on a sample of 800 female specimens captured from March to August 2005, the natural infection rate was 1.25 percent in an area of old settlement and 0.25 percent in two recently settled areas. Infection of L. longipalpis was detected in both areas, regardless of the number of reported human VL cases, indicating that other factors modulating infection in the wild need to be investigated. The results confirm PCR as a specific technique and an important tool for epidemiological surveillance.

O objetivo deste estudo foi investigar a infecção natural por Leishmania chagasi em flebotomíneos capturados em focos de leishmanioses visceral (LV) na ilha de São Luís, Maranhão, Brasil. Análise molecular por reação em cadeia da polimerase (PCR) foi aplicada para determinar a taxa de infecção natural de Lutzomyia longipalpis por L. chagasi em áreas de ocupação humana antiga e recente, na ilha de São Luís. Valendo-se de uma amostra de 800 fêmeas coletadas no período de março a agosto de 2005, foi possível determinar taxas de infecção natural equivalentes a 1,25 por cento em uma localidade de colonização antiga e 0,25 por cento em duas localidades de colonização recente. A infecção foi detectada nas duas localidades independentemente do número de casos humanos de LV notificados, o que demonstra que outros elementos que modulam a infecção no meio natural precisam ser investigados. Os resultados obtidos confirmam a PCR como técnica específica e importante ferramenta para as ações em vigilância epidemiológica.

Diagnóstico molecular da taxa de infecção natural de flebotomíneos (Psychodidae, Lutzomyia) por Leishmania sp na Amazônia maranhense / Molecular diagnosis of the natural infection rate due to Leishmania sp in sandflies (Psychodidae, Lutzomyia) in the Amazon region of Maranhão, Brazil

A taxa de infecção natural de três diferentes espécies de flebotomíneos por Leishmania foi estudada usando a técnica de reação em cadeia da polimerase. Primers específicos para Leishmania foram designados para examinar se os pools de flebotomíneos estavam infectadas. Um total de 1.100 fêmeas separadas em pools de 10 indivíduos foram examinados, consistindo de 50 Lutzomyia whitmani, 43 Lutzomyia triacantha e 17 Lutzomyia choti. De todos os pools analisados, 4 de Lutzomyia whitmani estavam positivos, mas nenhum pool das duas espécies restantes estava infectado. Deste modo, uma taxa de infecção de 0,4 por cento foi verificada neste estudo. Esta taxa de infecção associada a estudos anteriores sugere que Lutzomyia whitmani transmite Leishmania aos mamíferos em Buriticupu, Maranhão.

The natural infection rate due to Leishmania was studied in three different sandfly species using the polymerase chain reaction technique. Leishmania specific primers were designed to examine whether sandfly pools were infected. In total 1,100 female sandflies separated into pools of 10 individuals, consisting of 50 pools of Lutzomyia whitmani, 43 of Lutzomyia triacantha and 17 of Lutzomyia choti, were analyzed. Among all the pools examined, four pools of Lutzomyia whitmani were positive, but none of the pools of the other two species were infected. Thus, a total infection rate of 0.4 percent was established in this study. A similar infection rate was found in previous studies, suggesting that Lutzomyia whitmani transmits Leishmania to mammals in Buriticupu, Maranhão.