Preferential associated anomalies in 818 cases of microtia in South america

The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for research into the etiology of birth defects. We conducted a study based on cases of microtia that were diagnosed from more than 5 million live (LB)- and stillbirths (SB) examined in hospitals participating in ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 1967 and 2009. We identified 818 LB and SB with microtia and at least one additional non-related major congenital anomaly (cases) and 15,969 LB and SB with two or more unrelated major congenital anomalies except microtia (controls). A logistic regression analysis was performed to identify the congenital anomalies preferentially associated with microtia. Preferential associations were observed for 10 congenital anomalies, most of them in the craniofacial region, including facial asymmetry, choanal atresia, and eyelid colobomata. The analysis by type of microtia showed that for anomalies such as cleft lip and palate, macrostomia, and limb reduction defects, the frequency increased with the severity of the microtia. In contrast, for other anomalies the frequency tended to be the same across all types of microtia. Based on these results we will integrate data on the developmental pathways related to preferentially associated congenital anomalies for future studies investigating the etiology of microtia.Fil: Luquetti, Daniela V.. University of Washington; Estados Unidos. Seattle Children’s Research Institute; Estados UnidosFil: Cox, Thimoty C.. Monash University; Australia. University of Washington; Estados UnidosFil: López Camelo, Jorge Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; ArgentinaFil: Dutra, Maria da Graça. Instituto Oswaldo Cruz; BrasilFil: Cunningham, Michael L.. University of Washington; Estados Unidos. Seattle Children’s Research Institute; Estados UnidosFil: Castilla, Eduardo Enrique. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; Argentina. Instituto Oswaldo Cruz; Brasil. Instituto Nacional de Genética Médica Populacional; Brasi

Adverse social determinats and risk for congenital anomalies

INTRODUCCIÓN: Diferentes trabajos han relacionando condiciones sociales adversas a nivel familiar y regional con resultados perinatales (mortalidad neonatal, bajo peso y prematuridad); sin embargo, pocos estudiaron el efecto de la pobreza sobre anomalías congénitas. Objetivo. Evaluar el riesgo de ocurrencia de 25 anomalías congénitas y determinantes sociales adversos según el nivel socioeconómico de la familia y de la región. POBLACIÓN Y MÉTODOS. Estudio caso-control exploratorio, en el que se utilizaron datos del Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC). La muestra consistió en 3786 recién nacidos vivos con una única malformación y 13 344 controles, seleccionados entre 546 129 nacimientos, ocurridos en 39 hospitales de Argentina durante el período 1992-2001. Se estimaron los riesgos (OR) directos, indirectos (a través de la región de residencia) y la interacción entre el nivel socioeconómico individual y residencial para cada uno de los 25 defectos congénitos. RESULTADOS: Los defectos labio leporino con/sin paladar hendido (OR= 1,43) y comunicación interventricular (OR= 1,38) mostraron un riesgo significativamente mayor en el nivel socioeconómico más bajo. Los niveles socioeconómicos bajos se asociaron de manera significativa con una mayor frecuencia de consanguinidad parental, ancestros nativos, edad materna menor de 19 años, más de 4 embarazos, bajo número de visitas prenatales y residencia en regiones desfavorables. CONCLUSIÓN: La fisura labial con o sin paladar hendido y los defectos del tabique interventricular estuvieron asociados significativamente con un nivel socioeconómico más bajo. La falta de planificación familiar, de control prenatal y la exposición a agentes ambientales o teratógenos pueden explicar estos hallazgos.INTRODUCTION: Different studies have related familiar and regional adverse social conditions to perinatal outcome (neonatal mortality, low birth weight and prematurity); however, few studies have studied the effect of poverty on congenital anomalies. OBJECTIVE: To assess the hazard ratio of 25 congenital anomalies and adverse social determinants as per the socioeconomic level of families and regions. POPULATION AND METHODS: Exploratory, case-control study using data from the Latin-American Collaborative Study of Congenital Malformations (Estudio Colaborativo Latinoamericano de Malformaciones Congenitas, ECLAMC). The sample consisted of 3786 live newborn infants with a single malformation and 13,344 controls selected among 546,129 births occurred in 39 hospitals from Argentina in the 1992-2001 period. Both direct and indirect (residence) risks (OR) were estimated, together with the interaction between the individual and residential socioeconomic levels for each of the 25 congenital anomalies. RESULTS: Cleft lip with/without cleft palate (OR= 1.43) and ventricular septal defect (OR= 1.38) showed a significantly higher risk in the lower socioeconomic level. Low socioeconomic levels were significantly associated with a higher frequency of parental sibship (blood relationship); native descent; maternal age younger than 19 years old; more than four pregnancies; a low number of antenatal care visits; and residence in deprived regions. CONCLUSION: Cleft lip with/without cleft palate and ventricular septal defects were significantly associated with a lower socioeconomic level. Lack of family planning and antenatal care; and exposure to environmental or teratogenic agents may account for these findings.Fil: Pawluk, Mariela Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas; ArgentinaFil: Campaña, Hebe. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; ArgentinaFil: Gili, Juan Antonio. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; ArgentinaFil: Comas, Belén. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; ArgentinaFil: Gimenez, Lucas Gabriel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; ArgentinaFil: Villalba, María Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Scala, Sandra C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Poletta, Fernando Adrián. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. Instituto Nacional de Genética Médica Poblacional; BrasilFil: López Camelo, Jorge Santiago. Instituto Nacional de Genética Médica Poblacional; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentin

Fatores de risco para eczema atópico em escolares

OBJECTIVES: to study risk factors related to atopic eczema (AE) in school children of São Paulo. METHODS: 1972 parents or guardians of 6-7 years old children in the Southern Central area of São Paulo answered to a written questionnaire (standardized questionnaire of the International Study of Asthma and Allergies in Childhood plus a complementary questionnaire regarding family history of asthma and allergies, and exposure to environmental allergens). AE was defined by the presence of an itchy rash in the last year. Risk factors were analyzed through logical regression. RESULTS: the following factors were significantly associated with AE: history of maternal (OR: 4.1; 95%CI: 2.4 to 7.1) and paternal eczema (OR: 2.6; 95%CI: 1.4 to 5.0), dust in the child's bedroom (OR: 1.6; 95%CI: 1.1 to 2.4), lower maternal education (OR: 1.7; 95%CI: 1.1 to 2.7), rhinitis fever (OR: 1.7; 95%CI: 1.1 to 2.9) and wheezing in the last year (OR: 1.9; 95%CI: 1.2 to 2.8). CONCLUSIONS: our data suggest that AE has a specific pattern of inheritance. The presence of dust in the child's bedroom was the single environmental risk factor found. Diagnose of other allergic diseases, as well as the presence of recent symptoms were strongly associated with AE in children.OBJETIVOS: identificar fatores de risco relacionados ao eczema atópico (EA) em escolares do município de São Paulo. MÉTODOS: 1972 pais de escolares de 6-7 anos da região centro-sul de São Paulo responderam a questionários escritos (questionário padrão do International Study of Asthma and Allergies in Childhood e questionário complementar sobre história familiar de doenças alérgicas e exposição ambiental a potenciais fontes de alérgenos e irritantes). A presença de manchas na pele com coceira nos últimos 12 meses, definiu os escolares com EA. Os fatores de risco foram analisados por regressão logística. RESULTADOS: as variáveis significantemente associadas ao EA foram: história materna (OR: 4,1; IC95%: 2,4 a 7,1) e paterna de eczema (OR: 2,6; IC95%: 1,4 a 5,0), presença de pó no dormitório (OR: 1,6; IC95%: 1,1 a 2,4), menor escolaridade materna (OR: 1,7; IC95%: 1,1 a 2,7), relato de sibilos no último ano (OR: 1,9; IC95%: 1,2 a 2,8) e de rinite alguma vez (OR: 1,7; IC95%: 1,1 a 2,9). CONCLUSÕES: a análise dos dados sugeriu haver um padrão específico de herança genética para o EA. A presença de pó no quarto foi o único fator de risco ambiental encontrado. Sintomas e diagnóstico de outras doenças atópicas associaram-se fortemente às manifestações de EA.Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Pediatrics DepartmentUNIFESP, EPM, Pediatrics DepartmentSciEL

Prevalence of atopic eczema and associated symptoms in school children

OBJECTIVE: To determine the prevalence of atopic dermatitis and associated symptoms in schoolchildren from the city of São Paulo in 1996 and 1999. METHODS: The International Study of Asthma and Allergies in Childhood (ISAAC) written questionnaire was applied to the parents of 6 to 7-year-old children in 1996 and 1999 (3,005 in 1996 and 3,033 in 1999) and to 13 to 14-year-old adolescents (3,008 in 1996 and 3,487 in 1999). In the ISAAC, the option eczema ever indicates that a diagnosis of atopic eczema was made by a physician at least once in the subject's life. This was used to define medical diagnosis in the present study. The concomitant report of lesions in the last year in characteristic places constitutes the combined criterion for the diagnosis of atopic eczema and was also employed in the present study. Data were analyzed using the Epi-Info 6.0 software. RESULTS: In the 6 to 7-year-old group, there was a significant decrease in the number of medical diagnoses of atopic eczema in 1999 (11.4%) in comparison to 1996 (13.2%). The increase in the prevalence of medical diagnoses observed in 1999 among adolescents was not significant (14 vs. 15%). Considering the combined criterion, there were no significant differences between 1996 and 1999 in either group (6.6% vs. 6.8% for 6 to 7 year-old children; 3.7% vs. 4.4% for adolescents). CONCLUSIONS: Despite the increase in the prevalence of atopic diseases worldwide, we documented a reduction in the prevalence of medical diagnoses of atopic eczema in 6 to 7-year-old children. Nevertheless, atopic eczema remains as a relevant disease in the pediatric population.OBJETIVO: Determinar a prevalência de eczema atópico e de sintomas relacionados entre estudantes da região centro-sul da cidade de São Paulo, em 1996 e 1999. MÉTODOS: Em 1996 e 1999, o questionário escrito do International Study of Asthma and Allergies in Childhood (ISAAC) foi aplicado aos pais de crianças com 6-7 anos (3.005 em 1996 e 3.033 em 1999) e a adolescentes de 13-14 anos (3.008 em 1996 e 3.487 em 1999). Para o ISAAC: a) o relato de eczema alguma vez indica que, pelo menos uma vez na vida, foi fornecido por um médico o diagnóstico de eczema atópico, sendo utilizado para definir diagnóstico médico b) o relato concomitante de lesões no último ano evidenciadas em locais característicos constitui o critério combinado para o diagnóstico de eczema atópico e foi, também, utilizado por nós. Os dados obtidos foram transcritos no banco de dados Epi-Info 6.0 e analisados. RESULTADOS: No grupo dos 6-7 anos houve redução significante do diagnóstico médico de eczema atópico em 1999 (11,4%) em comparação a 1996 (13,2%). O aumento da prevalência de diagnóstico médico observado em 1999, entre os adolescentes, não foi significante (14% x 15%). Considerando-se o critério combinado, não houve diferenças significantes, entre 1996 e 1999, em ambos os grupos (6,6% x 6,8% para crianças de 6-7 anos e 3,7% x 4,4% para adolescentes). CONCLUSÕES: Apesar do aumento da prevalência das doenças atópicas em várias partes do mundo, documentamos redução na prevalência de diagnóstico médico de eczema atópico entre crianças de 6 a 7 anos. Contudo, o eczema atópico é doença relevante na população pediátrica.Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de PediatriaUNIFESP, EPM, Depto. de PediatriaSciEL

Quantile effects of prenatal care utilization on birth weight in Argentina

The effects of prenatal care utilization on birth weight (BW) may vary by unobserved fetal health endowments. This heterogeneity will be masked by estimating the effects at BW mean but can be evaluated by estimating the effects at BW quantiles as fetal health endowment is a strong correlate with the BW quantile order. We estimated the effects of prenatal care visits and delay before prenatal care initiation, on BW mean and quantiles using a sample of infants from Argentina. Self-selection into prenatal care was modeled using 2SLS and instrumental variable quantile regression. Results suggest that the 'mean' effect of prenatal care utilization largely underestimates the effects at lower BW quantiles. About 35 and 77 g increase in BW mean and 0.1 quantile respectively, per visit and about 30 and 139 g decrease in BW mean and 0.1 quantile respectively, per week delayed, were estimated. Ignoring self-selection into prenatal care resulted in underestimation of mean and quantile effects. Results highlight the limitation of analyses focused on 'mean effects' in the presence of treatment heterogeneity and emphasize the importance of identifying women at risk for having infants at lower BW quantiles as they may benefit most from earlier and more intensive prenatal care.Instituto Multidisciplinario de Biología Celula

Concordance between chest X ray (CXR) and point of care ultrasound (POCUS) findings in children diagnosed with RSV infection by nasopharyngeal RT-PCR: the Zambia experience

NIHhttp://www.cs.bu.edu/faculty/betke/papers/Camelo-et-alRSV-POCUS-vs-CXR-Poster.pdfAccepted manuscrip

Prenatal care effectiveness and utilization in Brazil

The impact of prenatal care use on birth outcomes has been understudied in South American countries. This study assessed the effects of various measures of prenatal care use on birth weight (BW) and gestational age outcomes using samples of infants born without and with common birth defects from Brazil, and evaluated the demand for prenatal care. Prenatal visits improved BW in the group without birth defects through increasing both fetal growth rate and gestational age, but prenatal care visits had an insignificant effect on BW in the group with birth defects when adjusting for gestational age. Prenatal care delay had no effects on BW in both infant groups but increased preterm birth risk in the group without birth defects. Inadequate care versus intermediate care also increased LBW risk in the group without birth effects. Quantile regression analyses revealed that prenatal care visits had larger effects at low compared with high BW quantiles. Several other prenatal factors and covariates such as multivitamin use and number of previous live births had significant effects on the studied outcomes. The number of prenatal care visits was significantly affected by several maternal health and fertility indicators. Significant geographic differences in utilization were observed as well. The study suggests that more frequent use of prenatal care can increase BW significantly in Brazil, especially among pregnancies that are uncomplicated with birth defects but that are at high risk for low birth weight. Further research is needed to understand the effects of prenatal care use for pregnancies that are complicated with birth defects.Instituto Multidisciplinario de Biología Celula

Produção inicial de frutos num plantio de açaí em Porto Velho, Rondônia.

O objetivo deste estudo foi avaliar a produção inicial de frutos entre de um plantio de açaí BRS Pará em Rondônia

Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up

Reports of birth defects rates may focus on defects observed in the newborn period or include defects diagnosed at older ages. However, little information is available on the rates of additional anomalies detected after birth or on the ages at which such anomalies are diagnosed. The aims of this work were to describe the initial diagnoses of oral clefts, isolated or associated with other defects, in newborn infants ascertained in hospitals of the ECLAMC network, and diagnostic changes that occurred due to detection of additional defects during a 1-year follow-up period. Seven hundred ten liveborn infants with cleft lip only (CLO), cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertained between 2003 and 2005. Prevalence estimates of isolated and associated (ASO) clefts, diagnoses in infants with associated clefts, and the percentage of isolated clefts that were reclassified as associated were established. Birth prevalence estimates (per 1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO=23.5%); CP: 0.46 (ASO=42.3%); CLO: 0.28 (ASO=7.6%). Initial diagnoses in infants with associated clefts included 38 infants with chromosomal abnormalities, 33 with non-chromosomal syndromes, 16 with malformation sequences, and 98 with multiple anomalies of unknown etiology. Seven percent of newborns initially classified as isolated were later reclassified as associated. Ten infants without associated defects or clinically suspected syndromes were diagnosed as syndromic only through laboratory findings or family history, illustrating the difference between the terms associated versus isolated, which refers to presence or absence of associated anomalies, and syndromic versus non-syndromic, which refers to etiology.Fil: Rittler, Monica. Provincia de Buenos Aires. Hospital Materno Infantil Ramón Sardá; Argentina. Organizacion Mundial de la Salud; ArgentinaFil: Cosentino, Viviana Raquel. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: López Camelo, Jorge Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET; ArgentinaFil: Murray, Jeffrey C.. University of Iowa; Estados UnidosFil: Wehby, George. University of Iowa; Estados UnidosFil: Castilla, Eduardo Enrique. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET; Argentina. Fundación Oswaldo Cruz; Brasi