It is presented here the analysis of the main clinical aspects of the infants with congenital def... more It is presented here the analysis of the main clinical aspects of the infants with congenital defects registered by ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2010. Among a total of 2,648,286 newborns surveyed, 39,434 (1.49%) had congenital defects detected during the first 3 days of life. This group of infants with congenital anomalies was distributed according to the clinical presentation of their defects as isolated (73.94%), multiply malformed (13.53%), and syndromes (12.53%). The etiologic distribution of infants with congenital anomalies in the ECEMC showed a 20.47% of genetic cause, 20.28% multifactorial, 1.35% produced by environmental causes, and the etiology of the defects was unknown in the remaining 57.90%. The secular distribution of the 3 main groups of clinical presentation (isolated, multiply malformed and syndromes) was studied and all of them showed a decreasing trend along the years, probably as a consequence of the impact of ...
Background Trends for maternal smoking rates have varied substantially across industrialized coun... more Background Trends for maternal smoking rates have varied substantially across industrialized countries. The objective was to describe how the prevalence of maternal smoking evolved in Spain during 1980–2016. Methods Data came from the Spanish Collaborative Study of Congenital Malformations. Our sample consisted of 40 934 mothers of newborns with no congenital defects from hospitals all across Spain. We estimated change points in trend and the mean annual change in smoking prevalence using ‘joinpoint’ regression. Relevant potential factors (age, country of birth, education, parity, planned pregnancy and alcohol consumption) were examined using multivariate logistic regression. Results Maternal smoking prevalence in 1980 and 2016 were 14.3% (95% confidence interval [CI]: 11.9–17.0) and 20.4% (95% CI: 15.9–25.8). We identified four periods with distinct trends: a sharp increase during the 80s, a plateau during the 90s, a decrease starting in 2000 and a slowdown of such decrease from 20...
Background: Huntington's disease (HD) is a progressive neurodegenerative condition characteri... more Background: Huntington's disease (HD) is a progressive neurodegenerative condition characterized by chorea, dystonia, behavioral disturbances and cognitive decline. The aim of this study is to assess temporal and spatial changes on mortality attributable to HD over 30 years in Spain. Methods: HD data were extracted from the nationwide mortality registry for the period 1984-2013. Annual and 5-year gender- and age-specific rates adjusted for the standard European population were calculated. Geographic analysis was performed by districts from 1999 through 2013, and then estimated standardized mortality ratios (SMRs) and smoothed SMRs. Results: There were 1,556 HD-related deaths across the study period. An increasing trend in age-adjusted HD mortality was in evidence, specifically from 1994 through 1998. On a year-by-year basis, age-adjusted mortality rates increased from 0.076 per 100,000 population in 1984 to 0.157 in 2013. Geographical differences among districts were evident in ...
Anales Espanoles De Pediatria Publicacion Oficial De La Asociacion Espanola De Pediatria, 1997
Introduccion: aunque apenas existen estudios epidemiologicos que evaluen el peso al nacimiento de... more Introduccion: aunque apenas existen estudios epidemiologicos que evaluen el peso al nacimiento de diferentes grupos de ninos malformados con alteraciones cromosomicas, es ampliamente conocida la existencia de bajo peso al nacimiento en los ninos que tienen trisomia 13 y otras alteraciones cromosomicas. Conclusiones: las resultados de nuestro estudio apoyan la conclusion de que la relacion que entre las alteraciones cromosomicas y el bajo peso al nacer es tan importante que creemos que la existencia de bajo peso al nacimiento en ninos con rasgos dismorficos o malformativos, deberia ser considerada como una indicacion mas para la realizacion de un estudio cromosomico.
Since 1992, the recommendation on the ingestion of folic acid (FA) to prevent congenital defects ... more Since 1992, the recommendation on the ingestion of folic acid (FA) to prevent congenital defects has become general in developed countries. In this paper, we analyze such a situation in Spain in most recent years. We used the information concerning mothers of infants selected as controls in the ECEMC database. These mothers make up a sample of pregnant women of the general population. We analyzed the evolution of the consumption of FA/calcic folinate (CF) by pregnant women over the last 22 years, considering the period of pregnancy during which this vitamin was taken and the dosage. The proportion of women who take FA/CF during the first trimester of pregnancy increased dramatically in the last 9 years, up to 80% in 2002. However, only about 9% took the vitamin before becoming pregnant. Moreover, many daily doses are much higher than those internationally recommended for the general population of women planning pregnancy. In our country, the use of FA/CF to prevent congenital defect...
Wiedemann-Beckwith syndrome is a multisystemic pattern of congenital anomalies with overgrowth. T... more Wiedemann-Beckwith syndrome is a multisystemic pattern of congenital anomalies with overgrowth. The most characteristic clinical features are macroglossia, high birth weight, omphalocele, visceromegaly and hypoglycemia. We show the clinical and epidemiological characteristics of the 18 cases with Wiedemann-Beckwith syndrome identified in the consecutive series of 25,967 malformed liveborn infants detected among 1,431,368 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1997. The minimal estimated frequency of Wiedemann-Beckwith syndrome in Spain is 0.13 per 10,000 liveborn infants. These infants have a high birth weight for their gestational age and are born of shorter pregnancies (prematurity 33.3%). The clinical manifestations of our cases are concordant with the variable expression of the syndrome; the most frequent features were macroglossia (100%), omphalocele or umbilical hernia (77.8%) and high birth weight...
Townes-Brocks syndrome is constituted by a multi-systemic pattern of congenital anomalies with au... more Townes-Brocks syndrome is constituted by a multi-systemic pattern of congenital anomalies with autosomal dominant inheritance. The most characteristic defects are those affecting hearing and the auricle, anal atresia and thumb anomalies. We present the epidemiological characteristics of six cases of Townes-Brocks syndrome identified in the consecutive series of 25,967 malformed live born infants detected among 1,431,368 live births surveyed by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between April 1976 and June 1997. The minimal estimated frequency of Townes-Brocks syndrome in our data is 0.42 cases per 100,000 liveborn infants. These infants have low birth weights. Similar to other published studies, we have observed in our cases a wide variation in the clinical expression of the syndrome, showing great inter-family, as well as intrafamily variability.
We analyzed the effect that number of gestations, smoking and number of cigarettes per day during... more We analyzed the effect that number of gestations, smoking and number of cigarettes per day during pregnancy have on the birthweight using a sample of 14,097 liveborns without birth defects identifiable within the first three days of life. To our purposes, we controlled the effect of gestational age, sex and maternal age through multiple regression analysis. From the results we concluded that the birthweight is increased 39.80 g per each pregnancy of mothers, showing a progressive but smoothed increase by a negative quadratic effect. Smoking in mothers decreases the weight of newborns and has no effect on the gestational age. The decrease of birthweight was stronger when we looked at the number of cigarettes per day, showing a diminishing trend when the number of cigarettes per day, showing a diminishing trend when the number of cigarettes is increased, but again smoothed by a positive quadratic effect. From the multiple regression analysis controlling some factors we got a formula t...
It is presented here the analysis of the main clinical aspects of the infants with congenital def... more It is presented here the analysis of the main clinical aspects of the infants with congenital defects registered by ECEMC (Spanish Collaborative Study of Congenital Malformations) between 1980 and 2010. Among a total of 2,648,286 newborns surveyed, 39,434 (1.49%) had congenital defects detected during the first 3 days of life. This group of infants with congenital anomalies was distributed according to the clinical presentation of their defects as isolated (73.94%), multiply malformed (13.53%), and syndromes (12.53%). The etiologic distribution of infants with congenital anomalies in the ECEMC showed a 20.47% of genetic cause, 20.28% multifactorial, 1.35% produced by environmental causes, and the etiology of the defects was unknown in the remaining 57.90%. The secular distribution of the 3 main groups of clinical presentation (isolated, multiply malformed and syndromes) was studied and all of them showed a decreasing trend along the years, probably as a consequence of the impact of ...
Background Trends for maternal smoking rates have varied substantially across industrialized coun... more Background Trends for maternal smoking rates have varied substantially across industrialized countries. The objective was to describe how the prevalence of maternal smoking evolved in Spain during 1980–2016. Methods Data came from the Spanish Collaborative Study of Congenital Malformations. Our sample consisted of 40 934 mothers of newborns with no congenital defects from hospitals all across Spain. We estimated change points in trend and the mean annual change in smoking prevalence using ‘joinpoint’ regression. Relevant potential factors (age, country of birth, education, parity, planned pregnancy and alcohol consumption) were examined using multivariate logistic regression. Results Maternal smoking prevalence in 1980 and 2016 were 14.3% (95% confidence interval [CI]: 11.9–17.0) and 20.4% (95% CI: 15.9–25.8). We identified four periods with distinct trends: a sharp increase during the 80s, a plateau during the 90s, a decrease starting in 2000 and a slowdown of such decrease from 20...
Background: Huntington's disease (HD) is a progressive neurodegenerative condition characteri... more Background: Huntington's disease (HD) is a progressive neurodegenerative condition characterized by chorea, dystonia, behavioral disturbances and cognitive decline. The aim of this study is to assess temporal and spatial changes on mortality attributable to HD over 30 years in Spain. Methods: HD data were extracted from the nationwide mortality registry for the period 1984-2013. Annual and 5-year gender- and age-specific rates adjusted for the standard European population were calculated. Geographic analysis was performed by districts from 1999 through 2013, and then estimated standardized mortality ratios (SMRs) and smoothed SMRs. Results: There were 1,556 HD-related deaths across the study period. An increasing trend in age-adjusted HD mortality was in evidence, specifically from 1994 through 1998. On a year-by-year basis, age-adjusted mortality rates increased from 0.076 per 100,000 population in 1984 to 0.157 in 2013. Geographical differences among districts were evident in ...
Anales Espanoles De Pediatria Publicacion Oficial De La Asociacion Espanola De Pediatria, 1997
Introduccion: aunque apenas existen estudios epidemiologicos que evaluen el peso al nacimiento de... more Introduccion: aunque apenas existen estudios epidemiologicos que evaluen el peso al nacimiento de diferentes grupos de ninos malformados con alteraciones cromosomicas, es ampliamente conocida la existencia de bajo peso al nacimiento en los ninos que tienen trisomia 13 y otras alteraciones cromosomicas. Conclusiones: las resultados de nuestro estudio apoyan la conclusion de que la relacion que entre las alteraciones cromosomicas y el bajo peso al nacer es tan importante que creemos que la existencia de bajo peso al nacimiento en ninos con rasgos dismorficos o malformativos, deberia ser considerada como una indicacion mas para la realizacion de un estudio cromosomico.
Since 1992, the recommendation on the ingestion of folic acid (FA) to prevent congenital defects ... more Since 1992, the recommendation on the ingestion of folic acid (FA) to prevent congenital defects has become general in developed countries. In this paper, we analyze such a situation in Spain in most recent years. We used the information concerning mothers of infants selected as controls in the ECEMC database. These mothers make up a sample of pregnant women of the general population. We analyzed the evolution of the consumption of FA/calcic folinate (CF) by pregnant women over the last 22 years, considering the period of pregnancy during which this vitamin was taken and the dosage. The proportion of women who take FA/CF during the first trimester of pregnancy increased dramatically in the last 9 years, up to 80% in 2002. However, only about 9% took the vitamin before becoming pregnant. Moreover, many daily doses are much higher than those internationally recommended for the general population of women planning pregnancy. In our country, the use of FA/CF to prevent congenital defect...
Wiedemann-Beckwith syndrome is a multisystemic pattern of congenital anomalies with overgrowth. T... more Wiedemann-Beckwith syndrome is a multisystemic pattern of congenital anomalies with overgrowth. The most characteristic clinical features are macroglossia, high birth weight, omphalocele, visceromegaly and hypoglycemia. We show the clinical and epidemiological characteristics of the 18 cases with Wiedemann-Beckwith syndrome identified in the consecutive series of 25,967 malformed liveborn infants detected among 1,431,368 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1997. The minimal estimated frequency of Wiedemann-Beckwith syndrome in Spain is 0.13 per 10,000 liveborn infants. These infants have a high birth weight for their gestational age and are born of shorter pregnancies (prematurity 33.3%). The clinical manifestations of our cases are concordant with the variable expression of the syndrome; the most frequent features were macroglossia (100%), omphalocele or umbilical hernia (77.8%) and high birth weight...
Townes-Brocks syndrome is constituted by a multi-systemic pattern of congenital anomalies with au... more Townes-Brocks syndrome is constituted by a multi-systemic pattern of congenital anomalies with autosomal dominant inheritance. The most characteristic defects are those affecting hearing and the auricle, anal atresia and thumb anomalies. We present the epidemiological characteristics of six cases of Townes-Brocks syndrome identified in the consecutive series of 25,967 malformed live born infants detected among 1,431,368 live births surveyed by the ECEMC (Spanish Collaborative Study of Congenital Malformations) between April 1976 and June 1997. The minimal estimated frequency of Townes-Brocks syndrome in our data is 0.42 cases per 100,000 liveborn infants. These infants have low birth weights. Similar to other published studies, we have observed in our cases a wide variation in the clinical expression of the syndrome, showing great inter-family, as well as intrafamily variability.
We analyzed the effect that number of gestations, smoking and number of cigarettes per day during... more We analyzed the effect that number of gestations, smoking and number of cigarettes per day during pregnancy have on the birthweight using a sample of 14,097 liveborns without birth defects identifiable within the first three days of life. To our purposes, we controlled the effect of gestational age, sex and maternal age through multiple regression analysis. From the results we concluded that the birthweight is increased 39.80 g per each pregnancy of mothers, showing a progressive but smoothed increase by a negative quadratic effect. Smoking in mothers decreases the weight of newborns and has no effect on the gestational age. The decrease of birthweight was stronger when we looked at the number of cigarettes per day, showing a diminishing trend when the number of cigarettes per day, showing a diminishing trend when the number of cigarettes is increased, but again smoothed by a positive quadratic effect. From the multiple regression analysis controlling some factors we got a formula t...
Uploads