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E Rodríguez-Pinilla

Publications and source records attributed to E Rodríguez-Pinilla.

At least 37 records · Page 2Linked to original sources
PubMed1998

Prenatal exposure to sex hormones: a case-control study.

The adverse effect of therapeutic use of sex hormones during pregnancy inducing pseudohermaphroditism in female offspring has been well known since the early 1950s. Consequently there has been great concern about the potential effects on the offspring of women who use these agents during gestation. Some studies have reported an association, particularly of oral contraceptives used during pregnancy, with specific types of congenital defects, while this was not observed in other studies. Here we present the results of a large case-control study on the effect of prenatal exposure to each type of sex hormone. Cases were those malformed infants of unknown cause, that is, excluding syndromes and those cases with defects that have dominant or recessive inheritance, and those due to recognized teratogens. The controls were selected from the same population as the cases and are representative of those who, had they developed malformations, would have been selected as cases. The results, after controlling potential cofounder factors with different logistic regression analyses, do not support the hypothesis that prenatal exposure to sex hormones increases the risk of genital and nongenital malformations.

Abnormalities, Drug-Induced↗
PubMed1998

Corticosteroids during pregnancy and oral clefts: a case-control study.

The question of whether systemic use of corticosteroids during the first trimester of pregnancy increases the risk of congenital malformations in people has still not been resolved. Here, we present the results of a case-control study on the relationship of corticosteroids during pregnancy and oral clefts in the newborn infant. Data are derived from the Spanish Collaborative Study of Congenital Malformations (ECEMC). Case subjects were 1,184 liveborn infants with nonsyndromic oral clefts. The results of the logistic regression analysis, show a relationship between exposure to corticosteroids during the first trimester of pregnancy and an increased risk of cleft lip (with or without cleft palate) in the newborn infants (OR = 6.55; CI = 1.44-29.76; P = 0.015), controlled for potential confounder factors, such as maternal smoking, maternal hyperthermia, first-degree malformed relatives with cleft lip with or without cleft palate, and maternal treatment with antiepileptics, benzodiazepines, metronidazole, or sex hormones during the first trimester of pregnancy. Thus, we believe that the use of corticosteroids during the first trimester of pregnancy, should be restricted to the following situations: for life-threatening situations, for those diseases without any other safe therapeutic alternative, or for those cases with replacement therapy.

Adrenal Cortex Hormones↗
PubMed1998

Congenital anomalies in the offspring of mothers with a bicornuate uterus.

BACKGROUND: Most of the reports on mothers with bicornuate uterus analyze fertility, reproductive capacity, and pregnancy outcomes. Very few of them, however, mention the risk for congenital anomalies in their offspring. Further, to our knowledge, no epidemiologic studies estimating the risk for congenital defects and analyzing the type of anomalies observed in infants born to mothers with bicornuate uterus have been reported. METHODS: Using a case-control study series, we estimated the risk of congenital anomalies in the offspring of women with a bicornuate uterus. To identify the specific defects associated with the presence of a bicornuate uterus in the mother, we analyzed 26 945 consecutive malformed infants from the Spanish Collaborative Study of Congenital Malformations and assessed the frequency of congenital anomalies in the offspring of mothers with a bicornuate uterus and in those born to mothers with a normal uterus. We then calculated the relative frequency, which is the quotient of the frequency of the individual defects in each group. This figure expresses the times each congenital defect is more frequent in infants of mothers with a bicornuate uterus than in those born to mothers with a normal uterus. RESULTS: Offspring of mothers with a bicornuate uterus had a risk for congenital defects four times higher than infants born to women with a normal uterus. The risk was statistically significant for some specific defects such as nasal hypoplasia, omphalocele, limb deficiencies, teratomas, and acardia-anencephaly. CONCLUSIONS: Offspring of mothers with bicornuate uterus are not only at high risk for deformations and disruptions, but also for some type of malformations.

Case-Control Studies↗
PubMed1998

[Children with limb reductions in a population of 25,193 malformed newborns: the recognized causes. ECEMC. The Spanish Collaborative Study of Congenital Malformations].

OBJECTIVE: The purposes of this study were to analyze the causes of limb reduction deficiencies based on a clinical-epidemiological approach and to study the causes by clinical presentation. PATIENTS AND METHODS: We have used the data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period from 1976 to 1996, which corresponded to more than 1,300,000 births. Among these, we identified 851 liver-born and 40 stillborn infants with limb reduction defects. RESULTS: We could identify the cause in 177 (19.87%) of the 891 cases with limb reduction defects. In the analysis by clinical presentation, in 52.19% of the cases the limb deficiencies were the only defect present in the children (isolated), 30.75% presented multiple congenital anomaly patterns, and 17.06% were syndromes. The most frequent etiology was the genetic one. CONCLUSIONS: First, most of infants with limb deficiencies have unknown cause and these defects are most frequently isolated malformations. On the other hand, the results of this analysis permitted the following considerations in relation to the guidance for the diagnosis of infants with limb reduction defects. If the child presents with multiple congenital anomalies (multiply malformed infant) a chromosomal analysis should be performed and it should be determined if the infant was prenatally exposed to a teratogenic agent. If these two aspects are normal, we should clinically analyze if the infant could have a known syndrome. In addition, since in our data 10.32% of isolated cases were due to autosomal dominant genes, a detailed clinical analysis of close relatives should be done to determine if some of them present mild limb deficiencies in order to provide an adequate information to the family.

Arm↗
PubMed1998

[Epidemiological aspects of children of women with bicornuate uterus].

BACKGROUND: Most published papers on women with a bicornuate uterus analyze their fertility problems, as well as certain pregnancy complications. We have not found any epidemiological study on the infants of mothers with this uterine malformation. Only in some papers a reference is made about the relationship of maternal bicornuate uterus with congenital deformations and disruptions in their infants. PATIENTS AND METHODS: Using data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), which has a case-control methodology, some characteristics in a series of 26,945 malformed infants, such as birth weight, sex, gestational age, umbilical cord length, placental weight and maternal age, were analyzed by separating infants of mothers with normal uterus and those of mothers with a bicornuate uterus. RESULTS: Results showed that women with a bicornuate uterus have more daughters than sons and an increased risk for intrauterine growth retardation and prematurity with respect to infants of mothers with a normal uterus. On the other hand, the risk of having an infant with congenital defects is higher for women with a bicornuate uterus than for those with a normal uterus. CONCLUSIONS: Pregnancies of women with a bicornuate uterus have to be considered at risk since they have more risk for complications and for having an infant with congenital defects, premature birth and with intrauterine growth retardation.

Case-Control Studies↗
PubMed1997

Epidemiological analysis of the schisis association in the Spanish registry of congenital malformations.

Since its description by Czeizel [1981: Am J Med Genet 10:25-35], there has been general acceptance of the schisis association as a distinct entity although, to the best of our knowledge, no other epidemiological study has confirmed its existence. Here we present an epidemiologic study on schisis defects and their associations with each other in children with and without blastogenetic defects. This study demonstrates that most cases represent the dysmorphogenetic response of the primary developmental field.

Blastocyst↗
PubMed1997

Prenatal exposure to salicylates and gastroschisis: a case-control study.

Gastroschisis, which is a defect in the abdominal wall, lateral to the umbilical cord, is considered to be a vascular problem, probably due to a disruption of the omphalomesenteric artery [Hoyme et al. (1981) J. Pediatr. 98:228-231]. Recently, Torfs et al. [(1996) Teratology 54:84-92] observed a significantly increased risk for aspirin and ibuprofen, two strong cyclooxygenase inhibitors. Here we present the results of a case-control study conducted by the Spanish Collaborative Study of Congenital Malformations (ECEMC) on the relationship between prenatal exposure to salicylates during the first trimester of pregnancy and gastroschisis. The results show an increased risk (OR = 3.47; P = 0.015) after controlling the possible effect of maternal age and maternal smoking during pregnancy.

Abdominal Muscles↗
PubMed1996

Epidemiological analysis of multi-site closure failure of neural tube in humans.

Van Allen et al. [Am J Med Genet 47:723-743, 1993] proposed that there is multi-site initiation of neural tube closure in humans, and that neural tube defects (NTD) represent the failure of one or more of 5 closure sites. We have studied from an epidemiologic perspective 774 liveborn infants with NTD by site of lesion following the multi-site classification proposed by Van Allen et al. [1993]. As predicted by these authors, we could classify all the cases with NTD by the multisite closure model. We have also estimated the prevalence of each failure closure site. This analysis indicates that not all the sites are affected with similar frequency.

Case-Control Studies↗
PubMed1996

[The Adams-Oliver syndrome in Spain: the epidemiological aspects].

Adams and Oliver (1945) described a family with several affected individuals with terminal transverse limb reduction defects and aplasia cutis congenita of the scalp. The clinical expression was highly variable and the pattern showed a family transmission compatible with an autosomal dominant condition. Since the first description, many cases have been published with this pattern of anomalies being known as Adams-Oliver syndrome. Here we present five affected patients ascertained among the 21,835 malformed infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC). Epidemiological aspects and clinical features of the patients are presented and compared with data from the literature.

Abnormalities, Multiple↗
PubMed1995

Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry).

Lubinsky [Am J Med Genet 3:23-28, 1987] has suggested that the properties of the midline involve early determinative informational processes and are related to the midline's position and definition of the body's plane of symmetry. Opitz [Am J Med Genet 21:175-176, 1985, BD: OAS XXIX(1):3-37 1993] has pointed out that the laterality sequences represent a midline developmental field complex. Thus, bilateral left-sidedness (with asplenia) and bilateral right-sidedness (with asplenia) have been considered laterality sequences or syndromes if cause is known. Using the malformed infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC), we performed a clinical/epidemiological analysis of the relationship between midline defects and alteration of normal body asymmetry and symmetry. The results support the assumption that both conditions could be consequence of disturbances in the midline primary developmental field.

Congenital Abnormalities↗
PubMed1991

Value of clinical analysis in epidemiological research: the Spanish registry experience.

Using data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), a hospital-based, case-control study and surveillance program, we investigated the potential value of registry systems in the identification of causes of congenital defects when their methodology includes (1) detailed reporting and coding of all anomalies present in each child, whether major or minor, (2) clinical analysis and coding of the global pattern of anomalies present in each infant, and (3) classification of all children studied according to their clinical presentation. These approaches provide great specificity and flexibility in the retrieval and analysis of data. Not only do they permit the study of specific anomalies, but also the analysis of children with MCA patterns, as well as the study of the relationship of specific defects with the rest of the anomalies present in a child. To illustrate this point, we present general data on 15,307 malformed children and more specific information on 153 cases of anal atresia/stenosis identified among the 753,410 live-births surveyed by the ECEMC between April 1976 and September 1989.

Abnormalities, Multiple↗