Genetic susceptibility for retinopathy of prematurity and its associated comorbidities.

BACKGROUND: Retinopathy of prematurity (ROP) is one of the leading cause of child blindness. Preterm newborns of very low gestational age (GA) and very low birth weight are at the greatest risk. Our objective was to evaluate the role of genetic variants associated with ROP risk and its comorbidities in an Argentinian sample of premature infants. METHODS: A sample of 437 preterm infants <33 weeks GA, born at a maternity hospital in Tucumán, Argentina, 2005-2010, was analyzed. Environmental factors, perinatal outcomes, and fourteen single nucleotide polymorphisms associated with ROP were evaluated, comparing ROP with non-ROP newborns. A lasso logistic regression was performed to select variables; then, a conditional logistic regression was used to identify ROP maternal and perinatal risk factors adjusting by maternal and gestational ages, respectively. RESULTS: ROP maternal risk factors were alcohol intake, periodontal infections, and severe stress. Respiratory distress, sepsis, and intracranial hemorrhage were the ROP perinatal risk factors. Markers rs186085 of EPAS1 and rs427832 of AGTR1 were significantly associated with ROP newborns. CONCLUSION: We identified three maternal and three perinatal risk factors associated with ROP. Genes EPAS1 and AGTR1, involved in angiogenesis and vascularization, were identified to be of risk for ROP. IMPACT: Genetic and environmental risk factors associated with ROP and its comorbidities are evaluated in a Latin American population. Genes EPAS1 and AGTR1, involved in angiogenesis and vascularization, were identified to be of risk for ROP. Three maternal and three perinatal risk factors associated with ROP were also identified. A matrix of significant relationships among genetic markers and comorbidities is presented. Reported data may help develop more effective preventive measures for ROP in the Latin American region.

Indirect Effects of Neighbourhood Socioeconomic Status on Preterm Birth Risk in an Argentine Population.

BACKGROUND: Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to determine the indirect effects of neighbourhood socioeconomic status (NSES) on the risk of spontaneous PTB. METHODS: We carried out a retrospective case-control study including sociodemographic and obstetric data of multigravid women who gave birth at a maternity hospital in Tucumán, Argentina, between 2005 and 2010: 949 women without previous PTB nor pregnancy loss who delivered at term and 552 who had spontaneous PTB. NSES was estimated from the Unsatisfied Basic Needs index of census data. Variables selected through penalised regressions were used to create a data-driven Bayesian network; then, pathways were identified and mediation analyses performed. RESULTS: Maternal age less than 20 years mediated part of the protective effect of high NSES on spontaneous PTB [natural indirect effect (NIE) -0.0125, 95% confidence interval (CI) (-0.0208, -0.0041)] and on few prenatal visits (< 5) [NIE - 0.0095, 95% CI (-0.0166, -0.0025)]. These pathways showed greater sensitivity to unobserved confounders that affect the variables mediator-outcome in the same direction, and exposure-mediator in the opposite direction. They did not show sensitivity to observed potential confounders, nor to the parameterization used to define NSES. Meanwhile, urinary tract infections showed a trend in mediating the effect of low NSES on spontaneous PTB [NIE 0.0044, 95% CI (-0.0006, 0.0093), P 0.0834]. CONCLUSIONS: High NSES has protective indirect effects on spontaneous PTB risk, mainly associated with a lower frequency of teenage pregnancy.

Prevalencia del bajo peso al nacer en un escenario de depresión económica en Argentina / Prevalence of low birth weight in a scenario of economic depression in Argentina

Introducción. El bajo peso al nacer (BPN) es considerado un indicador general de salud por su relación con complicaciones en la vida del recién nacido y por ser una de las primeras causas de mortalidad infantil. Es multifactorial y, entre sus determinantes, se incluyen los socioeconómicos. Objetivo. Evaluar el impacto de la desigualdad económica sobre la prevalencia del BPN, cuantificando el efecto diferencial según edad y educación materna y nivel de atención. Población y métodos. Estudio epidemiológico de diseño transversal, en el cual se analizaron los nacimientos ocurridos en Argentina desde 2001 a 2013 con datos obtenidos del Registro Nacional de los nacimientos, perteneciente a la Dirección de Estadísticas e Información en Salud (DEIS). Se estudió la variación temporal de la prevalencia de recién nacidos con BPN (< 2500 gramos) y su relación con indicadores demográficos y socioeconómicos. Se evaluó su asociación a través de modelos de regresión logística. Resultados. Se incluyeron 9 001 960 nacimientos. Se observó un incremento en la prevalencia de recién nacidos con BPN durante la crisis económica de 2001 -de un 6% en 2002 y un 7% en 2003-. Fue heterogéneo y tuvo mayor impacto en hospitales públicos (razón de prevalencia -RP-= 1,03) y madres adolescentes (RP= 1,07) y ningún impacto sobre la educación materna baja (RP= 0,99). Conclusiones. El impacto de la desigualdad socioeconómica sobre la prevalencia de bajo peso fue significativo y heterogéneo, más importante en hospitales públicos y madres en edades extremas.

Introduction. Low birth weight (LBW) is considered a general indicator of health because it is related to complications in the life of a newborn infant and is one of the leading causes of infant mortality. It is a multifactorial indicator, and its determinants include socioeconomic factors. Objective. To assess the impact of economic inequality on the prevalence of LBW by quantifying its differential effect by maternal age, level of maternal education, and level of care. Population and methods. Epidemiological, cross-sectional study that analyzed all births occurred in Argentina between 2001 and 2013 based on data provided by the National Registry of births, corresponding to the Health Statistics and Information Department. The temporal variation in the prevalence of LBW newborn infants (< 2500 grams) and its relation to demographic and socioeconomic indicators were studied. Its association was assessed using logistic regression models. Results. A total of 9 001 960births were included. The prevalence of LBW newborn infants during the 2001 economic crisis increased -6% in 2002 and 7% in 2003- The impact was heterogeneous and higher on public hospitals (--1;PR--3; = 1.03) and adolescent mothers (PR=1.07), but no impact was observed on a low level of maternal education (PR= 0.99). Conclusions. The impact of socioeconomic inequality on the prevalence of LBW was significant and heterogeneous, especially on public hospitals and mothers at the extremes of maternal age.

Asociación entre polimorfismos del gen NAT2 y fisura labiopalatina no sindrómica en Argentina / Association between NAT2 polymorphisms with non-syndromic cleft lip with or without cleft palate in Argentina

Background: NAT genes are considered candidate genes for the genetic predisposition to non-syndromic Cleft lip with or without cleft palate (NSCLP), since they codify for N-acetyltransferases, enzymes responsible for the biotransformation of arylamines, hydrazine drugs, and a great number of toxins and carcinogens present in diet, cigarette smoke, and environment. Aim: To determine the association between alleles determining slow acetylator phenotype and the risk of NSCLP. Material and Methods: We analyzed *5 (481C>T), *6 (590G>A) and *7 (857G>A) alleles which determine the slow acetylator phenotype and *4 (wild type) allele by polymerase chain reaction/restriction fragment length polymorphism in 97 progenitor-case trios of NSCLP in Argentinian Obstetric Wards. We evaluated the transmission disequilibrium (TDT). Results: TDT showed a positive association between allele *5 and NSCLP (odds ratio = 1,6; p = 0,03). Conclusions: The presence of *5 allele is significantly higher in cases with congenital NSCLP.

Determinantes sociales adversos y riesgo para anomalías congénitas seleccionadas / Adverse social determinants 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 deMalformaciones Congenitas, ECLAMC). The sample consisted of 3786live newborninfantswitha singlemalformation and 13 344 controls selected among 546 129 births occurred in 39 hospitals from Argentina in the 19922001 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.

Determinantes sociales adversos y riesgo para anomalías congénitas seleccionadas / Adverse social determinants 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.(AU)

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 deMalformaciones Congenitas, ECLAMC). The sample consisted of 3786live newborninfantswitha singlemalformation and 13 344 controls selected among 546 129 births occurred in 39 hospitals from Argentina in the 19922001 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.(AU)

Prevalencia al nacimiento de 27 anomalías congénitas seleccionadas, en 7 regiones geográficas de la Argentina / Births prevalence of 27 selected congenital anomalies in 7 geographic regions of Argentina

Objetivo. Estimar la frecuencia de 27 anomalías congénitas en 7 regiones geográficas de la Argentina. Material y métodos. Diseño observacional, transversal,descriptivo. Se seleccionó una muestra de 21 844 recién nacidos con malformaciones congénitas, sobre un total de 855 220 nacimientos ocurridos en 59 hospitales, entre 1994-2007. Se definieron 7 regiones geográficas de la Argentina. Para identificar regiones de alta frecuencia se utilizó una regresión de Poisson. El modelo incluyó la variable tiempo y 6 variables simuladas(dummy) para 7 regiones geográficas predefinidas: Metropolitana (MET); Pampa (PAM); Centro (CEN); Cuyo (CUY); Noroeste (NOA); Nordeste (NEA) y Patagonia (PAT).Resultados. El análisis regional de las frecuencias altas mostró los siguientes resultados significativos: PAM: hipospadias graves; CEN:espina bífida, microtia, labio leporino con paladarhendido, poliquistosis renal, polidactilia postaxial y síndrome de Down; CUY: polidactilia postaxial; NOA: onfalocele, gastrosquisis, labio leporino con paladar hendido y sin él,atresia anorrectal, genital ambiguo, polidactilia preaxial y agenesia pectoral; PAT: labio leporino sin paladar hendido.Conclusión. Catorce de las 27 anomalías congénitas estudiadas mostraron frecuencias significativamenteaumentadas en una o más regiones.

Objective. The aim of the present work was to estimate the frequency of 27 birth defects in 7 geographical regions of Argentina. Material and methods. Observational, cross-sectional, descriptive design. A sample of 21,844 new born with birth defects was selected, ascertained from 855,220 births, between 1994 and 2007, in 59 hospitals belonging to the ECLAMC network. In order to identify regions of high frequency a Poisson regression was used, adjusted by different hospitals from the same region. The modelincluded a time variable to detect secular trends and 6 dummy variables for 7 predefined geographical regions: Metropolitana (MET); Pampa (PAM); Centro (CEN); Cuyo (CUY); Noroeste(NOA); Nordeste (NEA) and Patagonia (PAT). Results. High frequencies regional analysis showed the following significant results: PAM: severe hypospadias; CEN: spina bifida, microtia, cleft lip with cleft palate, polycystic kidney, postaxialpolydactyly and Down syndrome; CUY:postaxial polydactyly; NOA: omphalocele, gastroschisis, cleft lip without cleft palate, cleft lip with cleft palate, anorectal atresia/stenosis, indeterminate sex, preaxial polydactyly and pectoral agenesis; PAT: cleft lip without cleft palate. Conclusion. Out of the 27 congenital anomalies analyzed, fourteen showed a frequency significatively higher in one or more regions.

Prevalencia al nacimiento de 27 anomalías congénitas seleccionadas, en 7 regiones geográficas de la Argentina / Births prevalence of 27 selected congenital anomalies in 7 geographic regions of Argentina

Objetivo. Estimar la frecuencia de 27 anomalías congénitas en 7 regiones geográficas de la Argentina. Material y métodos. Diseño observacional, transversal,descriptivo. Se seleccionó una muestra de 21 844 recién nacidos con malformaciones congénitas, sobre un total de 855 220 nacimientos ocurridos en 59 hospitales, entre 1994-2007. Se definieron 7 regiones geográficas de la Argentina. Para identificar regiones de alta frecuencia se utilizó una regresión de Poisson. El modelo incluyó la variable tiempo y 6 variables simuladas(dummy) para 7 regiones geográficas predefinidas: Metropolitana (MET); Pampa (PAM); Centro (CEN); Cuyo (CUY); Noroeste (NOA); Nordeste (NEA) y Patagonia (PAT).Resultados. El análisis regional de las frecuencias altas mostró los siguientes resultados significativos: PAM: hipospadias graves; CEN:espina bífida, microtia, labio leporino con paladarhendido, poliquistosis renal, polidactilia postaxial y síndrome de Down; CUY: polidactilia postaxial; NOA: onfalocele, gastrosquisis, labio leporino con paladar hendido y sin él,atresia anorrectal, genital ambiguo, polidactilia preaxial y agenesia pectoral; PAT: labio leporino sin paladar hendido.Conclusión. Catorce de las 27 anomalías congénitas estudiadas mostraron frecuencias significativamenteaumentadas en una o más regiones.(AU)

Objective. The aim of the present work was to estimate the frequency of 27 birth defects in 7 geographical regions of Argentina. Material and methods. Observational, cross-sectional, descriptive design. A sample of 21,844 new born with birth defects was selected, ascertained from 855,220 births, between 1994 and 2007, in 59 hospitals belonging to the ECLAMC network. In order to identify regions of high frequency a Poisson regression was used, adjusted by different hospitals from the same region. The modelincluded a time variable to detect secular trends and 6 dummy variables for 7 predefined geographical regions: Metropolitana (MET); Pampa (PAM); Centro (CEN); Cuyo (CUY); Noroeste(NOA); Nordeste (NEA) and Patagonia (PAT). Results. High frequencies regional analysis showed the following significant results: PAM: severe hypospadias; CEN: spina bifida, microtia, cleft lip with cleft palate, polycystic kidney, postaxialpolydactyly and Down syndrome; CUY:postaxial polydactyly; NOA: omphalocele, gastroschisis, cleft lip without cleft palate, cleft lip with cleft palate, anorectal atresia/stenosis, indeterminate sex, preaxial polydactyly and pectoral agenesis; PAT: cleft lip without cleft palate. Conclusion. Out of the 27 congenital anomalies analyzed, fourteen showed a frequency significatively higher in one or more regions.(AU)

Consumo y exposición al humo de tabaco en mujeres embarazadas de Ecuador / Smoking and exposure to tobacco smoke among pregnant women in Ecuador

OBJETIVOS: Determinar la frecuencia de tabaquismo y exposición ambiental al humo de tabaco en mujeres embarazadas de Ecuador y describir los perfiles sociodemográficos asociados con esos factores de riesgo perinatal. MÉTODOS: Estudio descriptivo transversal mediante una encuesta aplicada a mujeres de 18 a 46 años con más de 3 meses de embarazo que asistieron entre octubre de 2004 y septiembre de 2005 a sus consultas de seguimiento en siete servicios de maternidad de seis ciudades de Ecuador. Se analizaron los datos demográficos y de exposición medioambiental (variables independientes) y su relación con el hábito de fumar cigarrillos y la exposición ambiental al humo de tabaco. RESULTADOS: De las 746 mujeres analizadas, 53,3 por ciento había fumado ocasionalmente y 4,3 por ciento había fumado habitualmente; de estas, 75,0 por ciento había dejado de fumar antes o durante el embarazo. De las encuestadas, 12,9 por ciento estuvo expuesta con frecuencia o siempre al humo de tabaco en ambientes cerrados. Tener mayor educación (11 años o más) y un nivel socioeconómico medio o alto, ser caucásica y considerar aceptable que las mujeres de su comunidad fumen se asoció significativa y directamente con el hábito de fumar cigarrillos (P < 0,001). En general, 12,9 por ciento de las mujeres estuvo expuesta al humo de tabaco y esto se asoció significativamente con ser soltera y cohabitar con fumadores o trabajadores vinculados con la industria del tabaco (P < 0,001). CONCLUSIONES: Se deben diseñar e implementar medidas específicas dirigidas no solo a estimular el abandono de este hábito en las embarazadas, sino también a prevenir que las mujeres en edad reproductiva comiencen a fumar y controlar el entorno fumador en el hogar.

OBJECTIVES: To determine the frequency of smoking and second-hand smoke exposure among pregnant women in Ecuador and to describe the sociodemographic profiles associated with these perinatal risk factors. METHODS: A cross-sectional descriptive study using a survey of women 18-46 years of age who were more than three months pregnant and attended follow-up consultations in seven maternity clinics in six cities in Ecuador between October 2004 and September 2005. Demographics and environmental exposure (independent variables) data and their relationship to cigarette smoking and secondhand-smoke exposure were analyzed. RESULTS: Of the 746 women studied, 53.3 percent had smoked occasionally, and 4.3 percent, regularly; of these, 75 percent had quit smoking before or during pregnancy. Of the respondents, 12.9 percent were frequently or always exposed to secondhand smoke indoors. Having more education (11 or more years), being in the middle or upper socioeconomic classes, being Caucasian, and it being considered acceptable for women in the community to smoke were significantly and directly associated with cigarette smoking (P < 0.001). Overall, 12.9 percent of women were being exposed to secondhand smoke and this was significantly associated with being single and cohabiting with smokers or employees connected to the tobacco industry (P < 0.001). CONCLUSIONS: Specific measures must be designed and implemented to not only encourage smoking cessation during pregnancy, but also to prevent women of reproductive age from taking up smoking and to limit smoking in the home environment.

El ECLAMC: un observatorio de malformaciones congénitas / Latin-americancollaborative study of birth defects: evaluation of congenital malformation

Congenital anomalies are those already present at birth, resulting from disorders in embryological development. They can be classified as structural anomalies (malformations), affecting morphology of organs or body parts, and functional, as, for instance, blindness or mental retardation. Their etiology can be genetic or environmental. The ECLAMC (Estudio Colaborativo latino Americano de Malformaciones Congénitas) is a clinical-epidemiologic research program of birth defects and their prevention, by means of clinical evaluation, and a monitoring system which establishes frequencies and is aimed towards the detection of risk factors. The present article describes this research program

El ECLAMC: un observatorio de malformaciones congénitas / Latin-americancollaborative study of birth defects: evaluation of congenital malformation

Congenital anomalies are those already present at birth, resulting from disorders in embryological development. They can be classified as structural anomalies (malformations), affecting morphology of organs or body parts, and functional, as, for instance, blindness or mental retardation. Their etiology can be genetic or environmental. The ECLAMC (Estudio Colaborativo latino Americano de Malformaciones Congénitas) is a clinical-epidemiologic research program of birth defects and their prevention, by means of clinical evaluation, and a monitoring system which establishes frequencies and is aimed towards the detection of risk factors. The present article describes this research program

Analysis of sister chromatid exchanges (SCE) in human population studies

A análise das frequências da troca de cromátides irmäs (SCE) em estudos de populaçöes humanas é discutida levando em conta: as frequências de SCE em uma populaçäo de floricultores expostos á pesticidas; 2) a distribuiçäo das frequências de SCE; 3) o numero de células contadas por indivíduo e 4) a proporçäo com altas frequências de SCE (HFC). Dados sobre SCE foram obtidos a partir de uma amostra de 14 floricultores com sintomas de intoxicaçäo crônica e 13 sem. Esses resultados foram comparados com aqueles obtidos de uma amostra de doadores näo expostos. Para a análise das frequências de SCE em floricultores sintomáticos e näo sintomáticos, o uso de testes estatísticos paramétricos e näo paramétricos, bem como uma comparaçäo das curvas de distribuiçäo das frequências de SCE säo discutidas. Sendo que nenhum aumento da frequência de SCE seria esperado em estudos de populaçöes, a utilidade dos diferentes métodos combinados com a comparaçäo das curvas de distribuiçäo é demonstrada para a detecçäo de pequenas diferenças significativas. Nos floricultores e nos doadores näo expostos, as frequências de SCE seguiram uma distribuiçäo binomial negativa, tendo pouca correlaçäo com a distribuiçäo de Poisson. Isto confirma a utilidade dos testes estatísticos para a análise dos dados obtidos. As frequências de SCE de 20 indivíduos após 20, 25, 30 e 50 células foram analisadas para determinar se o numero de células a serem contadas por indivíduo dependem do tamanho da amostra da populaçäo. Finalmente a detecçäo das células com altas frequências de SCE pode ser usada com uma grande amostra e um grande numero de células examinadas por indivíduo

Adverse social determinants and risk for congenital anomalies. / Adverse social determinants and risk for congenital anomalies.

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.

Epidemiología y genética de los nacimientos prematuros en Argentina / Epidemiology and genetics of preterm birth in Argentina

INTRODUCCIÓN El parto prematuro (PTB) es la principal causa de cuatro millones de muertes neonatales ocurridas por año en todo el mundo. En Argentina, aproximadamente el 7% de los nacimientos son partos prematuros. OBJETIVOS Identificar fenotipos de parto prematuro con mayor susceptibilidad genética y epidemiológica, a fin de realizar potenciales intervenciones de prevención primaria o asesoramiento genético sobre riesgos de recurrencia. MÉTODOS Se consideró prematurez al nacimiento con menos de 37 semanas de gestación 1) parto pretérmino idiopático (PTB-I); 2) ruptura prematura de membranas (PTB-PROM); 3) parto médicamente inducido (PTB-M). La muestra fue de 1.043 casos, con información de antecedentes maternos, historia reproductiva y descripción del fenotipo. El estudio analizó la epidemiología ambiental y los mecanismos de herencia a través del riesgo familiar de recurrencia (FRR). RESULTADOS La frecuencia de PTB fue de 10,3% y en la hermandad se elevó al 23,1% (238 hermanos con PTB entre 1.029 gestaciones). Los recién nacidos con PTB sin agregación familiar mostraron mayor tasa de corto tiempo de convivencia, infecciones urinarias maternas durante el embarazo y antecedente de aborto espontáneo durante el embarazo anterior. Las familias con un alto nivel de agregación tuvieron una mayor incidencia de complicaciones en el embarazo, como diabetes, hipertensión y trastornos inmunológicos. Se observó que PTB-I poseía una frecuencia de recurrencia entre hermanos de 38%, PTB-PROM de 26,2% y PTB-M de 31,4%. DISCUSIÓN La historia reproductiva materna difiere entre los subtipos de prematuros. Esto sugiere que existe una respuesta genética diferente a factores ambientales similares o una activación de distintas vías fisiopatológicas que intervienen en la determinación de la duración del embarazo de cada mujer.

Atlas geográfico de malformaciones congenitas en Sudamerica / Geographical atlases of abnormalities in Sudamerica

Obra de caráter descriptivo, basado en frecuencias brutas, para permitir una rapida comprensión visual de la situación regional para 40 tipos de defectos congénitos seleccionados por su importancia práctica.

Prevención primaria de los defectos congénitos / Primary prevention in the congenital defects

Expone las propuestas del ECLAMC para realizar una eficiente prevención de los defectos congénitos, es decir de los nacimientos defectuosos, en forma detallada y documentada, resumiendo una propuesta de prevención en su último capítulo. Es una obra dirigida a todos los interesados en el tema, pertenezcan o no al sector de salud, condensada en un decálogo para evitar las deficiencias físicas y mentales.

Prevencion primaria de los defectos congenitos

De forma detalhada e documentada, traz propostas para a realização de uma eficiente prevenção de defeitos congênitos, ou seja, apresenta medidas que impedem sua ocorrência. O trabalho avalia que tais anomalias - sejam morfológicas (malformações ou deformidades) ou funcionais (retardo mental, cegueira, surdez) e que atualmente afetam a um de cada 10 a 20 recém-nascidos - podem ser evitadas através de medidas relativamente simples, o que importa numa responsabilidade moral da sociedade em geral, e do sistema de saúde, em particular no campo da promoção sanitária. O livro encerra com um decálogo condensado que resume as principais recomendações de prevenção e do qual se pretende uma ampla divulgação.