Genotype-phenotype correlation in Brazillian Rett syndrome patients

BACKGROUND: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE: To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. METHOD: Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene was performed on peripheral blood DNA by sequencing the coding region of the gene. RESULTS: Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed. CONCLUSION: Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/phenotype correlations, guiding the implementation of mutation searching programs.

Air pollution and hospital admissions for respiratory diseases in the subequatorial Amazon: a time series approach

The objective of the study is to evaluate the effect of the daily variation in concentrations of fine particulate matter (diameter less than 2.5µm - PM2.5) resulting from the burning of biomass on the daily number of hospitalizations of children and elderly people for respiratory diseases, in Alta Floresta and Tangará da Serra in the Brazilian Amazon in 2005. This is an ecological time series study that uses data on daily number of hospitalizations of children and the elderly for respiratory diseases, and estimated concentration of PM2.5. In Alta Floresta, the percentage increases in the relative risk (%RR) of hospitalization for respiratory diseases in children were significant for the whole year and for the dry season with 3-4 day lags. In the dry season these measurements reach 6% (95%CI: 1.4-10.8). The associations were sig-nificant for moving averages of 3-5 days. The %RR for the elderly was significant for the current day of the drought, with a 6.8% increase (95%CI: 0.5-13.5) for each additional 10µg/m3 of PM2.5. No as-sociations were verified for Tangara da Serra. The PM2.5 from the burning of biomass increased hospitalizations for respiratory diseases in children and the elderly.

Self-disclosure of HIV diagnosis to sexual partners by heterosexual and bisexual men: a challenge for HIV/AIDS care and prevention

This study investigated the disclosure of HIV-positive serostatus to sexual partners by heterosexual and bisexual men, selected in centers for HIV/AIDS care. In 250 interviews, we investigated disclosure of serostatus to partners, correlating disclosure to characteristics of relationships. The focus group further explored barriers to maintenance/establishment of partnerships and their association with disclosure and condom use. Fear of rejection led to isolation and distress, thus hindering disclosure to current and new partners. Disclosure requires trust and was more frequent to steady partners, to partners who were HIV-positive themselves, to female partners, and by heterosexuals, occurring less frequently with commercial sex workers. Most interviewees reported consistent condom use. Unprotected sex was more frequent with seropositive partners. Suggestions to enhance comprehensive care for HIV-positive men included stigma management, group activities, and human rights-based approaches involving professional education in care for sexual health, disclosure, and care of "persons living with HIV".

Áreas de vulnerabilidade para co-infecção HIV-aids/TB em Ribeirão Preto, SP

OBJETIVO: Identificar áreas de vulnerabilidade para os casos novos de co-infecção HIV/tuberculose (TB). MÉTODOS: Estudo descritivo ecológico realizado por meio do georreferenciamento dos casos novos de HIV/TB notificados em Ribeirão Preto, SP, em 2006. Os dados foram obtidos do sistema de informação estadual paulista de notificação de TB. Os casos novos de co-infecção HIV/TB foram analisados conforme características sociodemográficas e clínicas e, posteriormente, georreferenciados na base cartográfica do município segundo endereço residencial. Os setores do município foram categorizados em três níveis socioeconômicos: inferior, intermediário e superior, com base na análise de componentes principais das variáveis do censo demográfico de 2000 (renda, instrução e percentagem de domicílios com cinco ou mais moradores). Foi calculada a incidência da co-infecção HIV/TB para cada nível socioeconômico. RESULTADOS: A co-infecção HIV/TB acometeu mais adultos do sexo masculino em idade economicamente ativa e a forma pulmonar da TB foi a mais comum. A distribuição espacial mostrou que as incidências nas áreas com níveis socioeconômicos intermediários e inferiores (8,3 e 11,5 casos por 100 mil habitantes, respectivamente) foram superiores àquela (4,8 casos por 100 mil habitantes) de nível socioeconômico superior. CONCLUSÕES: A taxa de incidência de co-infecção HIV/TB analisada por níveis socioeconômicos mostrou padraÞo espacial de distribuiçaÞo não homogêneo e apresentou valores mais altos em áreas de maior vulnerabilidade social. O estudo diagnosticou aìreas geograìficas prioritaìrias para o controle da co-infecção e a tecnologia do sistema de informação geográfica pode ser empregada no planejamento das ações em saúde pelos gestores municipais.

Comparison of direct immunofluorescence, conventional cell culture and polymerase chain reaction techniques for detecting respiratory syncytial virus in nasopharyngeal aspirates from infants

A total of 316 samples of nasopharyngeal aspirate from infants up to two years of age with acute respiratory-tract illnesses were processed for detection of respiratory syncytial virus (RSV) using three different techniques: viral isolation, direct immunofluorescence, and PCR. Of the samples, 36 (11.4%) were positive for RSV, considering the three techniques. PCR was the most sensitive technique, providing positive findings in 35/316 (11.1%) of the samples, followed by direct immunofluorescence (25/316, 7.9%) and viral isolation (20/315, 6.3%) (p < 0.001). A sample was positive by immunofluorescence and negative by PCR, and 11 (31.4%) were positive only by RT-PCR. We conclude that RT-PCR is more sensitive than IF and viral isolation to detect RSV in nasopharyngeal aspirate specimens in newborn and infants.

Effects of an intervention in eating habits and physical activity in Japanese-Brazilian women with a high prevalence of metabolic syndrome in Bauru, São Paulo State, Brazil

We evaluated the impact of a lifestyle intervention on the cardiometabolic risk profile of women participating in the Study on Diabetes and Associated Diseases in the Japanese-Brazilian Population in Bauru. This was a non-controlled experimental study including clinical and laboratory values at baseline and after a 1-year intervention period. 401 Japanese-Brazilian women were examined (age 60.8±11.7 years), and 365 classified for metabolic syndrome (prevalence = 50.6%). Subjects with metabolic syndrome were older than those without (63.0±10.0 vs. 56.7±11.6 years, p < 0.01). After intervention, improvements in variables were found, except for C-reactive protein. Body mass index and waist circumference decreased, but adiposity reduction was more pronounced in the abdominal region (87.0±9.7 to 84.5±11.2cm, p < 0.001). Intervention-induced differences in total cholesterol, LDL, and post-challenge glucose were significant; women who lost more than 5% body weight showed a better profile than those who did not. The lifestyle intervention in Japanese-Brazilian women at high cardiometabolic risk improved anthropometric and laboratory parameters, but it is not known whether such benefits will persist and result in long-term reduction in cardiovascular events.

Síndrome metabólica e baixa estatura em adultos da região metropolitana de São Paulo (SP, Brasil)

A desnutrição pregressa, expressa pela baixa estatura, pode ser fator de risco para síndrome metabólica (SM). O objetivo deste estudo foi verificar a prevalência de SM e sua relação com a baixa estatura, possível resultante de desnutrição crônica na infância, em população adulta. Foi feito um estudo transversal em população adulta, com idades entre 20 e 64 anos, residente em município da região metropolitana da cidade de São Paulo (SP). A amostra foi composta por 287 indivíduos, sendo 214 (74,6%) do sexo feminino e 75 (25,4%) do sexo masculino. Foram obtidos dados antropométricos, por meio de exame físico, dados bioquímicos (glicemia, colesterol total e frações, triglicérides) pela coleta de sangue em jejum e dados clínicos. A prevalência padronizada por sexo e idade para a síndrome metabólica foi de 34,0% e para a baixa estatura, 29,0%. A análise por regressão logística múltipla demonstrou associação entre a baixa estatura e a SM, ajustada por sexo, idade, escolaridade, renda, tabagismo, etilismo, atividade física, antecedentes familiares de doenças coronarianas, hipertensão arterial, diabetes e índice de massa corporal. Neste estudo, encontrou-se associação entre SM e baixa estatura, sugerindo que a desnutrição pregressa seja fator de risco para essa morbidade.

Evolução de parâmetros antropométricos em portadores do vírus da Imunodeficiência Humana ou com Síndrome da Imunodeficiência Adquirida: um estudo prospectivo

OBJETIVO: Avaliar o estado nutricional e a evolução de parâmetros antropométricos para alterações morfológicas em pacientes vivendo com o vírus da Imunodeficiência Humana ou com Síndrome da Imunodeficiência Adquirida em uso de terapia antirretroviral de alta atividade. MÉTODOS: Trata-se de estudo de coorte prospectiva com duração de 12 meses, envolvendo indivíduos adultos, de ambos os sexos, em terapia antirretroviral recém introduzida. Os indicadores antropométricos estudados foram índice de massa corporal, circunferência de cintura, dobras cutâneas subescapular, biciptal e triciptal, avaliados com intervalos de três meses, totalizando 4 medidas do tempo. Variáveis foram descritas segundo mediana e percentis 25 e 75 e analisadas por ANOVA para medidas repetidas. RESULTADOS: A população estudada foi composta por 53 indivíduos, a maioria do sexo masculino (81%), entre 30 e 39 anos. Apenas a dobra cutânea subescapular apresentou significante variação no tempo (T1=13,7 vs T4=16,0; p<0,001), apontando para lipo-hipertrofia dorso-cervical. CONCLUSÃO: Os achados deste estudo, embora limitados, direcionam para a necessidade de vigilância de parâmetros antropométricos associados a alterações morfológicas, em especial, aqueles usados no diagnóstico de acúmulo de gordura abdominal e dorso-cervical.

Per capita versus adult-equivalent estimates of calorie availability in household budget surveys

This study aims to estimate an adult-equivalent scale for calorie requirements and to determine the differences between adult-equivalent and per capita measurements of calorie availability in the Brazilian population. The study used data from the 2002-2003 Brazilian Household Budget Survey. The calorie requirement for a reference adult individual was based on the mean requirements for adult males and females (2,550kcal/day). The conversion factors were defined as the ratios between the calorie requirements for each age group and gender and that of the reference adult. The adult-equivalent calorie availability levels were higher than the per capita levels, with the largest differences in rural and low-income households. Differences in household calorie availability varied from 22kcal/day (households with adults and an adolescent) to 428kcal/day (households with elderly individuals), thus showing that per capital measurements can underestimate the real calorie availability, since they overlook differences in household composition.

Childhood and adolescent obesity and adult mortality: a systematic review of cohort studies

This systematic review addressed cohort studies on obesity in childhood and adolescence and adult mortality, published from January 1990 to March 2007. We searched the PubMed database with the following uniterms: obesity, mortality, child, adolescent; obesity and mortality; overweight and mortality. References were also analyzed. The age limit was 2 to 18 years. Quality of the articles was assessed, and eight were identified and reviewed. All used weight and stature for determination of obesity, and seven used body mass index (BMI). The quality score varied from 9 to 17. Evidence of association between obesity in childhood and adolescence and adult mortality should be viewed with caution. Use of BMI and potential confounders were discussed. Further research is needed to analyze the relationship between childhood and adolescent obesity and adult mortality.

Rapid detection of bovine coronavirus by a semi-nested RT-PCR

Bovine coronavirus (BCoV) is a member of the group 2 of the Coronavirus (Nidovirales: Coronaviridae) and the causative agent of enteritis in both calves and adult bovine, as well as respiratory disease in calves. The present study aimed to develop a semi-nested RT-PCR for the detection of BCoV based on representative up-to-date sequences of the nucleocapsid gene, a conserved region of coronavirus genome. Three primers were designed, the first round with a 463bp and the second (semi-nested) with a 306bp predicted fragment. The analytical sensitivity was determined by 10-fold serial dilutions of the BCoV Kakegawa strain (HA titre: 256) in DEPC treated ultra-pure water, in fetal bovine serum (FBS) and in a BCoV-free fecal suspension, when positive results were found up to the 10-2, 10-3 and 10-7 dilutions, respectively, which suggests that the total amount of RNA in the sample influence the precipitation of pellets by the method of extraction used. When fecal samples was used, a large quantity of total RNA serves as carrier of BCoV RNA, demonstrating a high analytical sensitivity and lack of possible substances inhibiting the PCR. The final semi-nested RT-PCR protocol was applied to 25 fecal samples from adult cows, previously tested by a nested RT-PCR RdRp used as a reference test, resulting in 20 and 17 positives for the first and second tests, respectively, and a substantial agreement was found by kappa statistics (0.694). The high sensitivity and specificity of the new proposed method and the fact that primers were designed based on current BCoV sequences give basis to a more accurate diagnosis of BCoV-caused diseases, as well as to further insights on protocols for the detection of other Coronavirus representatives of both Animal and Public Health importance.

Respiratory infection, exposure to mouse allergen and breastfeeding: role in recurrent wheezing in early life

Background: Environmental factors may influence the development of allergen sensitization and asthma. The aim of this study was to evaluate the role of endotoxin and allergen exposure in early life as a risk factor for recurrent wheezing. Methods: One hundred and four infants from low-income families, at high risk of asthma, were enrolled at birth. Dust samples were collected from the bedding and bedroom floor within 6 months after birth. Recurrent wheezing was defined as 3 or more wheezing episodes in the past year. Endotoxin was determined by Limulus amebocyte lysate assay, and major indoor allergens were quantitated by ELISA in dust extracts. IgE antibodies were measured by ImmunoCAP at 30 months of age. Results: At 30 months, 51 of the 99 infants who completed the study (51.5 per cent) had recurrent wheezing. Respiratory infection was strongly associated with recurrent wheezing (OR 6.67, 95 per cent CI 1.96-22.72), whereas exclusive breastfeeding for at least 1 month was a protective factor (OR 0.09, 95 per cent CI 0.01-0.51). Exposure to high levels of mouse allergen was more frequent among non-recurrent wheezers, approaching significance (OR 0.12, 95 per cent CI 0.01-1.13; p = 0.064). None of the children were sensitized to mouse. Sensitization to mite was found in 26/90 (28.8 per cent) children, with no association with recurrent wheezing. Conclusion: Respiratory infection was strongly associated with recurrent wheezing in the first 30 months of life, in children at high risk of asthma, living in a socially deprived community in Brazil

Tendência da mortalidade relacionada à paracoccidioidomicose, Estado de São Paulo, Brasil, 1985 a 2005: estudou usando causas múltiplas de morte

Objetivo. Estudar a mortalidade relacionada à paracoccidioidomicose informada em qualquer linha ou parte do atestado médico da declaração de óbito. Métodos. Os dados provieram dos bancos de causas múltiplas de morte da Fundação Sistema Estadual de Análise de Dados (SEADE) de São Paulo entre 1985 e 2005. Foram calculados os coeficientes padronizados de mortalidade relacionada à paracoccidioidomicose como causa básica, como causa associada e pelo total de suas menções. Resultados. No período de 21 anos ocorreram 1 950 óbitos, sendo a paracoccidioidomicose a causa básica de morte em 1 164 (59,7%) e uma causa associada de morte em 786 (40,3%). Entre 1985 e 2005 observou-se um declínio do coeficiente de mortalidade pela causa básica de 59,8% e pela causa associada, de 53,0%. O maior número de óbitos ocorreu entre os homens, nas idades mais avançadas, entre lavradores, com tendência de aumento nos meses de inverno. As principais causas associadas da paracoccidioidomicose como causa básica foram a fibrose pulmonar, as doenças crônicas das vias aéreas inferiores e as pneumonias. As neoplasias malignas e a AIDS foram as principais causas básicas estando a paracoccidioidomicose como causa associada. Verificou-se a necessidade de adequar as tabelas de decisão para o processamento automático de causas de morte nos atestados de óbito com a menção de paracoccidioidomicose. Conclusões. A metodologia das causas múltiplas de morte, conjugada com a metodologia tradicional da causa básica, abre novas perspectivas para a pesquisa que visa a ampliar o conhecimento sobre a história natural da paracoccidioidomicose.

Infant feeding practices, childhood growth and obesity in adult life

A saúde infantil é amplamente afetada pelo estado nutricional. Há um interesse crescente acerca da possibilidade do estado nutricional apresentado pela criança e das práticas alimentares na primeira infância estarem relacionados à obesidade em indivíduos adultos, aumentando os riscos para complicações metabólicas. Sabe-se que estudos prospectivos possibilitam a investigação e a avaliação apropriadas de determinantes do desenvolvimento infantil. Consequentemente, o presente artigo objetivou revisar as principais evidências disponíveis a partir de estudos longitudinais sobre associações entre práticas alimentares na primeira infância, padrões de crescimento infantil e estado nutricional verificados durante a vida adulta

Metabolic syndrome and dietary components are associated with coronary artery disease risk score in free-living adults: a cross-sectional study

Background: Coronary artery disease (CAD) is among the main causes of death in developed countries, and diet and lifestyle can influence CAD incidence. Objective: To evaluate the association of coronary artery disease risk score with dietary, anthropometric and biochemical components in adults clinically selected for a lifestyle modification program. Methods: 362 adults (96 men, 266 women, 53.9 +/- 9.4 years) fulfilled the inclusion criteria by presenting all the required data. The Framingham score was calculated and the IV Brazilian Guideline on Dyslipidemia and Prevention of Atherosclerosis was adopted for classification of the CAD risks. Anthropometric assessments included waist circumference (WC), body fat and calculated BMI (kg/m(2)) and muscle-mass index (MMI kg/m(2)). Dietary intake was estimated through 24 h dietary recall. Fasting blood was used for biochemical analysis. Metabolic Syndrome (MS) was diagnosed using NCEP-ATPIII (2001) criteria. Logistic regression was used to determine the odds of CAD risks according to the altered components of MS, dietary, anthropometric, and biochemical components. Results: For a sample with a BMI 28.5 +/- 5.0 kg/m(2) the association with lower risk (<10% CAD) were lower age (<60 years old), and plasma values of uric acid. The presence of MS within low, intermediary, and high CAD risk categories was 30.8%, 55.5%, and 69.8%, respectively. The independent risk factors associated with CAD risk score was MS and uric acid, and the protective factors were recommended intake of saturated fat and fiber and muscle mass index. Conclusion: Recommended intake of saturated fat and dietary fiber, together with proper muscle mass, are inversely associated with CAD risk score. On the other hand, the presence of MS and high plasma uric acid are associated with CAD risk score.