Vigilância de síndromes com anomalias congénitas que afetam múltiplos sistemas: dados do Registo Nacional de Anomalias Congénitas para os anos 2000 a 2013

O Registo Nacional de Anomalias Congénitas (RENAC) recebe notificações da ocorrência de anomalias congénitas diagnosticadas até ao final do 1º mês de vida, algumas das quais são raras. Foi realizado um estudo observacional, transversal, com a finalidade de descrever a epidemiologia dos registos de anomalias congénitas que constituem uma síndrome genética rara, utilizando os dados do RENAC entre 2000-2013. Observou-se uma prevalência de 1,17 casos/10 000 nascimentos de indivíduos com síndrome genética rara com anomalias que afetam múltiplos sistemas. Estas patologias representam um pequeno grupo do universo das doenças raras. No total das síndromes estudadas (n=171), a maior frequência observou-se no grupo de síndromes que afetam predominantemente o aspeto da face (50,9%) e, neste grupo, destacam-se a Sequência de Pierre Robin (26,3%) e a Síndrome de Goldenhar (11,7%). No grupo de outras síndromes genéticas, a Síndrome de DiGeorge foi diagnosticada em 12,3% dos casos. Dada a inexistência de um registo nacional de doenças raras, os dados do RENAC podem contribuir para avaliar a prevalência de algumas destas doenças. Contudo para uma melhor vigilância de algumas doenças raras, o prazo de registo será alargado até ao ano de idade de modo a permitir que situações mais complexas possam ser identificadas e registadas.

Patterns of induced abortion in urban area of Southeastern region, Brazil

OBJECTIVE: To assess the behavior of induced abortion as a function of certain demographic variables, for the population of fertile women (15 to 49 years old) residing in the Vila Madalena subdistrict S. Paulo (Brazil). MATERIAL AND METHOD: Two population samples were selected. One sample, with 996 women, investigated the incidence of induced abortions during 1987, using the RRT. In the other, involving 1,004 women, the same information was detected through a conventional approach. In both samples, the induced abortion occurring during the reproductive life was recorded in direct fashion. Though this analysis refers only to information about past abortions, that is by 2,000 women -, it should be noted that it is exactly the RRT that lends credibility to the found or results given results. CONCLUSION: The analysis furnishes evidence showing that single women, young women between the ages of 15 and 19, women who have not had live births, women who have a number of children below the expected ideal, women who use contraceptive methods (especially inefficient ones) and women who do not have any restrictions as to abortion constitute the categories most inclined to resort to induced abortion. This grouping suggests the existence of interrelationships between categories, that is, each of these categories is probably composed primarily of the same women, those who are at the beginning of their reproductive lives.

Anemia de Fanconi em Portugal: estudo retrospetivo de 34 anos de investigação no INSA (1980-2014)

A Anemia de Fanconi (AF) é uma doença recessiva rara, com uma frequência estimada de 4 a 7 por 1 000 000 de nascimentos. Caraterizase por malformações congénitas, falência medular e hipersensibilidade a agentes clastogénicos de DNA. Devido à grande complexidade desta patologia a primeira abordagem de diagnóstico, consiste na análise da instabilidade cromossómica, após cultura celular com estimulação com agentes clastogénicos diepoxibutano (DEB) ou mitomicina C (MMC). Realizou- se um estudo retrospetivo de 34 anos (1980-2014) em 243 amostras com suspeita de AF e de 25 amostras de familiares de doentes de AF, num total de 268 amostras. Nas 243 amostras suspeitas de Anemia de Fanconi, foram identificadas 37 com AF. A idade média ao diagnóstico foi de 7 anos, existindo um ligeiro predomínio da incidência no sexo feminino (59%). Uma amostra foi classificada como AF(-/+). Nos familiares de doentes com AF foram identificados 2 casos positivos, o que perfaz 39 amostras de AF positivas. Em quatro das amostras AF negativas, observaram-se cariotipos anormais. Estes resultados não permitem estimar uma frequência de doentes de AF em Portugal, uma vez que não englobam indivíduos de todas as regiões portuguesas, mas permitem uma estimativa da frequência espectável.

Risk factors for perinatal mortality in an urban area of Southern Brazil, 1993

INTRODUCTION: Although there was a considerable reduction in infant mortality in Pelotas, Rio Grande do Sul in the last decade, its perinatal causes were reduced only by 28%. The associated factors of these causes were analised. MATERIAL AND METHOD: All hospital births and perinatal deaths were assessed by daily visits to all the maternity hospitals in the city, throughout 1993 and including the first week of 1994. RESULTS: The perinatal mortality rate was 22.1 per thousand births. The multivariate analysis showed the following risk factors: low socioeconomic level, male sex and maternal age above 35 years . Among multigravidae women, the fetal mortality rate was significantly increased for mothers with a previously low birthweight and a previous stillbirth. For early neonatal mortality the risk was significantly increased by a smaller number of antenatal visits than 5 and low birthweight. CONCLUSIONS: Main risk factors for perinatal mortality: low socioeconomic level, maternal age above 35 years and male sex. For early neonatal mortality the risk was significantly increased by a smaller number of antenatal visits than 5 and low birthweight.

Infant mortality rates according to socioeconomic status in a Brazilian city

OBJECTIVE: Data from municipal databases can be used to plan interventions aimed at reducing inequities in health care. The objective of the study was to determine the distribution of infant mortality according to an urban geoeconomic classification using routinely collected municipal data. METHODS: All live births (total of 42,381) and infant deaths (total of 731) that occurred between 1994 and 1998 in Ribeirão Preto, Brazil, were considered. Four different geoeconomic areas were defined according to the family head's income in each administrative urban zone. RESULTS: The trends for infant mortality rate and its different components, neonatal mortality rate and post-neonatal mortality rate, decreased in Ribeirão Preto from 1994 to 1998 (chi-square for trend, p<0.05). These rates were inversely correlated with the distribution of lower salaries in the geoeconomic areas (less than 5 minimum wages per family head), in particular the post-neonatal mortality rate (chi-square for trend, p<0.05). Finally, the poor area showed a steady increase in excess infant mortality. CONCLUSIONS: The results indicate that infant mortality rates are associated with social inequality and can be monitored using municipal databases. The findings also suggest an increase in the impact of social inequality on infant health in Ribeirão Preto, especially in the poor area. The monitoring of health inequalities using municipal databases may be an increasingly more useful tool given the continuous decentralization of health management at the municipal level in Brazil.

Narrowing inequalities in infant mortality in Southern Brazil

OBJECTIVE: To determine the trends of infant mortality from 1995 to 1999 according to a geographic area-based measure of maternal education in Porto Alegre, Brazil. METHODS: A registry-based study was carried out and a municipal database created in 1994 was used. All live births (n=119,170) and infant deaths (n=1,934) were considered. Five different geographic areas were defined according to quintiles of the percentage of low maternal educational level (<6 years of schooling): high, medium high, medium, medium low, and low. The chi-square test for trend was used to compare rates between years. Incidence rate ratio was calculated using Poisson regression to identify excess infant mortality in poorer areas compared to higher schooling areas. RESULTS: The infant mortality rate (IMR) decreased steadily from 18.38 deaths per 1,000 live births in 1995 to 12.21 in 1999 (chi-square for trend p<0.001). Both neonatal and post-neonatal mortality rates decreased although the drop seemed to be steeper for the post-neonatal component. The higher decline was seen in poorer areas. CONCLUSION: Inequalities in IMR seem to have decreased due to a steeper reduction in both neonatal and post-neonatal components of infant mortality in lower maternal schooling area.

Infant mortality and low birth weight in cities of Northeastern and Southeastern Brazil

OBJECTIVE: To compare estimates of low birth weight (LBW), preterm birth, small for gestational age (SGA), and infant mortality in two birth cohorts in Brazil. METHODS: The two cohorts were performed during the 1990s, in São Luís, located in a less developed area in Northeastern Brazil, and Ribeirão Preto, situated in a more developed region in Southeastern Brazil. Data from one-third of all live births in Ribeirão Preto in 1994 were collected (2,839 single deliveries). In São Luís, systematic sampling of deliveries stratified by maternity hospital was performed from 1997 to 1998 (2,439 single deliveries). The chi-squared (for categories and trends) and Student t tests were used in the statistical analyses. RESULTS: The LBW rate was lower in São Luís, thus presenting an epidemiological paradox. The preterm birth rates were similar, although expected to be higher in Ribeirão Preto because of the direct relationship between preterm birth and LBW. Dissociation between LBW and infant mortality was observed, since São Luís showed a lower LBW rate and higher infant mortality, while the opposite occurred in Ribeirão Preto. CONCLUSIONS: Higher prevalence of maternal smoking and better access to and quality of perinatal care, thereby leading to earlier medical interventions (cesarean section and induced preterm births) that resulted in more low weight live births than stillbirths in Ribeirão Preto, may explain these paradoxes. The ecological dissociation observed between LBW and infant mortality indicates that the LBW rate should no longer be systematically considered as an indicator of social development.

Infant mortality: comparison between two birth cohorts from Southeast and Northeast, Brazil

OBJECTIVE: To obtain population estimates and profile risk factors for infant mortality in two birth cohorts and compare them among cities of different regions in Brazil. METHODS: In Ribeirão Preto, southeast Brazil, infant mortality was determined in a third of hospital live births (2,846 singleton deliveries) in 1994. In São Luís, northeast Brazil, data were obtained using systematic sampling of births stratified by maternity unit (2,443 singleton deliveries) in 1997-1998. Mothers answered standardized questionnaires shortly after delivery and information on infant deaths was retrieved from hospitals, registries and the States Health Secretarys' Office. The relative risk (RR) was estimated by Poisson regression. RESULTS: In São Luís, the infant mortality rate was 26.6/1,000 live births, the neonatal mortality rate was 18.4/1,000 and the post-neonatal mortality rate was 8.2/1,000, all higher than those observed in Ribeirão Preto (16.9, 10.9 and 6.0 per 1,000, respectively). Adjusted analysis revealed that previous stillbirths (RR=3.67 vs 4.13) and maternal age <18 years (RR=2.62 vs 2.59) were risk factors for infant mortality in the two cities. Inadequate prenatal care (RR=2.00) and male sex (RR=1.79) were risk factors in São Luís only, and a dwelling with 5 or more residents was a protective factor (RR=0.53). In Ribeirão Preto, maternal smoking was associated with infant mortality (RR=2.64). CONCLUSIONS: In addition to socioeconomic inequalities, differences in access to and quality of medical care between cities had an impact on infant mortality rates.

Case-control study on infant mortality in Southern Brazil

OBJECTIVE: To identify risk factors associated with infant mortality and, more specifically, with neonatal mortality. METHODS: A case-control study was carried out in the municipality of Caxias do Sul, Southern Brazil. Characteristics of prenatal care and causes of mortality were assessed for all live births in the 2001-2002 period with a completed live-birth certificate and whose mothers lived in the municipality. Cases were defined as all deaths within the first year of life. As controls, there were selected the two children born immediately after each case in the same hospital, who were of the same sex, and did not die within their first year of life. Multivariate analysis was performed using conditional logistic regression. RESULTS: There was a reduction in infant mortality, the greatest reduction was observed in the post-neonatal period. The variables gestational age (<36 weeks), birth weight (<2,500 g), and 5-minute Apgar (<6) remained in the final model of the multivariate analysis, after adjustment. CONCLUSIONS: Perinatal conditions comprise almost the totality of neonatal deaths, and the majority of deaths occur at delivery. The challenge for reducing infant mortality rate in the city is to reduce the mortality by perinatal conditions in the neonatal period.

Which factors could explain the low birth weight paradox?

OBJECTIVE: Low birth weight children are unusual among well-off families. However, in Brazil, low birth weight rate was higher in a more developed city than in a less developed one. The study objective was to find out the reasons to explain this paradox. METHODS: A study was carried out in two municipalities, Ribeirão Preto (Southeastern Brazil) and São Luís (Northeastern Brazil), which low birth weight rates were 10.7% and 7.6% respectively. Data from two birth cohorts were analyzed: 2,839 newborns in Ribeirão Preto in 1994 and 2,439 births in São Luís in 1997-1998. Multiple logistic regression analysis was performed, adjusted for confounders. RESULTS: Low birth weight risk factors in São Luís were primiparity, maternal smoking and maternal age less than 18 years. In Ribeirão Preto, the associated variables were family income between one and three minimum wages, maternal age less than 18 and equal to or more than 35 years, maternal smoking and cesarean section. In a combined model including both cohorts, Ribeirão Preto presented a 45% higher risk of low birth weight than São Luís. When adjusted for maternal smoking habit, the excess risk for low birth weight in Ribeirão Preto compared to São Luís was reduced by 49%, but the confidence interval was marginally significant. Differences in cesarean section rates between both cities contributed to partially explain the paradox. CONCLUSIONS: Maternal smoking was the most important risk factor for explaining the difference in low birth weight between both cities. The other factors contributed little to explain the difference in low birth weight rates.

Suspected acute toxoplasmosis in pregnant women

OBJECTIVE: To determine the prevalence of reagent serology for suspected acute toxoplasmosis in pregnant women and to describe clinical, laboratory and therapeutic profiles of mothers and their children. METHODS: A retrospective study was conducted with IgM-anti-Toxoplasma gondii-reagent pregnant women and their children who attended the public health system in the state of Paraná, Southern Brazil, from January 2001 to December 2003. Information were obtained from clinical, laboratory (ELISA IgM/IgG) and ultrasonographic data and from interviews with the mothers. To test the homogeneity of the IgM indices in relation to the treatment used, the Pearson's Chi-square test was applied. Comparisons were considered significant at a 5% level. RESULTS: Two hundred and ninety (1.0%) cases of suspected IgM-reagent infection were documented, with a prevalence of 10.7 IgM-reagent women per 1,000 births. Prenatal care started within the first 12 weeks for 214/290; 146/204 were asymptomatic. Frequent complaints included headaches, visual disturbance and myalgia. Ultrasonography revealed abnormalities in 13 of 204 pregnancies. Chemoprophylaxis was administered to 112/227; a single ELISA test supported most decisions to begin treatment. Pregnant women with IgM indices =2.000 tended to be treated more often. Among exposed children, 44/208 were serologically followed up and all were IgG-reagent, and three IgM-reagent cases showed clinical symptoms. CONCLUSIONS: The existence of pregnant women with laboratorially suspected acute toxoplasmosis who were not properly followed up, and of fetuses that were not adequately monitored, shows that basic aspects of the prenatal care are not being systematically observed. There is need of implementing a surveillance system of pregnant women and their children exposed to T. gondii.

Risk-factors for antepartum fetal deaths in the city of São Paulo, Brazil

OBJECTIVE: To assess risk factors for antepartum fetal deaths. METHODS: A population-based case-control study was carried out in the city of São Paulo from August 2000 to January 2001. Subjects were selected from a birth cohort from a linked birth and death certificate database. Cases were 164 antepartum fetal deaths and controls were drawn from a random sample of 313 births surviving at least 28 days. Information was collected from birth and death certificates, hospital records and home interviews. A hierarchical conceptual framework guided the logistic regression analysis. RESULTS: Statistically significant factors associated with antepartum fetal death were: mother without or recent marital union; mother's education under four years; mothers with previous low birth weight infant; mothers with hypertension, diabetes, bleeding during pregnancy; no or inadequate prenatal care; congenital malformation and intrauterine growth restriction. The highest population attributable fractions were for inadequacy of prenatal care (40%), hypertension (27%), intrauterine growth restriction (30%) and absence of a long-standing union (26%). CONCLUSIONS: Proximal biological risk factors are most important in antepartum fetal deaths. However, distal factors - mother's low education and marital status - are also significant. Improving access to and quality of prenatal care could have a large impact on fetal mortality.

Neonatal mortality: description and effect of hospital of birth after risk adjustment

OBJECTIVE: To assess the effect of hospital of birth on neonatal mortality. METHODS: A birth cohort study was carried out in Pelotas, Southern Brazil, in 2004. All hospital births were assessed by daily visits to all maternity hospitals and 4558 deliveries were included in the study. Mothers were interviewed regarding potential risk factors. Deaths were monitored through regular visits to hospitals, cemeteries and register offices. Two independent pediatricians established the underlying cause of death based on information obtained from medical records and home visits to parents. Logistic regression was used to estimate the effect of hospital of birth, controlling for confounders related to maternal and newborn characteristics, according to a conceptual model. RESULTS: Neonatal mortality rate was 12.7‰ and it was highly influenced by birthweight, gestational age, and socioeconomic variables. Immaturity was responsible for 65% of neonatal deaths, followed by congenital anomalies, infections and intrapartum asphyxia. Adjusting for maternal characteristics, a three-fold increase in neonatal mortality was seen between similar complexity hospitals. The effect of hospital remained, though lower, after controlling for newborn characteristics. CONCLUSIONS: Neonatal mortality was high, mainly related to immaturity, and varied significantly across maternity hospitals. Further investigations comparing delivery care practices across hospitals are needed to better understand NMR variation and to develop strategies for neonatal mortality reduction.

A interpretação da comunicação publicitária na perspectiva do segmento sénior

O aumento da esperança média de vida e a redução do número de nascimentos, tem conduzido a um aumento significativo da população sénior, e apesar de ser conotado como um fenómeno característico dos países desenvolvidos, esta é uma realidade quase universal, que tem assumido particular incidência na Europa. No entanto, apesar de frequentemente estigmatizada com base em estereótipos negativos, no que diz respeito às suas capacidades físicas e mentais, na atualidade, o perfil dos seniores, sofreu alterações significativas dada a sua disponibilidade de tempo e dinheiro, transformando-o num segmento com um peso significativo no incremento da economia e um target desejável para os media e seus agentes. Deste modo, por via da alteração do paradigma social; envelhecimento da população e a crescente importância deste segmento para o mercado, é pertinente compreender a relação entre o sénior e a comunicação publicitária. Esta dissertação visa examinar a relação que os seniores mantêm com a publicidade, na perspetiva dos seniores. Especificamente, visa perceber de que forma é percecionada a publicidade televisiva pelo segmento sénior em Portugal, a importância que este lhe atribui, como este descreve o papel do sénior e os estereótipos que lhe estão associados na publicidade. Pretende-se ainda identificar os principais fatores que atuam como mecanismos persuasivos na mensagem publicitaria, as categorias de produto que os seniores consideram que surgem associadas ao seu segmento na publicidade e qual a sua perceção acerca do modo como os outros seniores encaram a publicidade, i. é., a sua heteroperceção. Sendo um tema pertinente e oportuno no atual contexto português, espera-se que este estudo contribua para fornecer informação útil a entidades públicas e privadas, fomentar o diálogo e a discussão no desenvolvimento de futuras iniciativas.

Risk factors for cesarean section by category of health service

OBJECTIVE: To analyze the rate of cesarean section and differences in risk factors by category of health service, either public or private. METHODS: A cross-sectional study was carried out including all pregnant women in labor admitted to hospitals in the city of Rio Grande, Southern Brazil, between January 1 and December 31, 2007. A pre-coded and pre-tested questionnaire was used to collect on social, demographic, obstetric and newborn care information. Two regression models were constructed: one for public users and the other one for private ones. Poisson regression was used in each model in the multivariate analysis. Prevalence rates and 95% confidence intervals were calculated for each adjusted factor. RESULTS: The rate of cesarean section was 43% and 86% among public and private users. Sociodemographic factors and twin births have a more significant impact among public users as well as number of pregnancies (25% vs. 13% reduction in public and private users, respectively) and previous cesarean section (86% vs. 24% increase in public and private users, respectively). Prenatal care visits and hospital admissions affected the outcome only in women users of public services. CONCLUSIONS: Cesarean section rates were high in both groups studied, but it was twice as high among women cared in the private sector. Associated factors differ in magnitude by category of service used.