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E Bermejo

Publications and source records attributed to E Bermejo.

At least 37 records · Page 2Linked to original sources
PubMed2000

Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects.

We studied a series of 27,145 consecutive infants with congenital defects and classified them into the currently recognized pathogenetic types of errors of morphogenesis, as defined by the International Working Group [Spranger et al., 1982: J Pediatrics 1:160-165]. Of all infants with congenital defects, 97.94% had malformations, 3.92% deformations, and 1.65% disruptions. Malformations associated with deformations were present in 3.12% of children with congenital anomalies, malformations with disruptions in 0.18%, deformations with disruptions in 0.07%, and malformations with deformations and disruptions in 0.14%. While deformations, including deformation sequences, were 2.38 times more common than disruptions and disruption sequences, isolated disruptions (1.27%) were more frequent than isolated deformations (0.59%). Knowledge of the frequencies of the different types of errors of morphogenesis (malformations, deformations, disruptions, developmental field defects, associations, complexes, unrecognized patterns of multiple congenital anomaly, and syndromes) may be of great value in the evaluation of patients with congenital anomalies.

Congenital Abnormalities↗
PubMed2000

Determination of s-triazines with copper and glassy carbon electrodes. Flow injection analysis of aziprotryne in water samples.

The detection and determination of s-triazines, atrazine-desethyl and aziprotryne by cyclic voltammetry and an amperometric method using a metallic copper electrode and a glassy carbon electrode are described. The concentrations of atrazine-desethyl and aziprotryne in 0.1 M NaOH solutions were determined using the oxidation signal corresponding to the Cu(0)/Cu(I) redox process. The detection level calculated for these s-triazines were 0.3 and 0.5 microg/mL of analyte, respectively. The glassy carbon electrode was shown to give sensitive reduction response to aziprotryne in flow injection mode. No special activation was required for the glassy carbon electrode. A detection limit of 0.2 microg/mL (20 ng aziprotryne) was obtained for a sample loop of 0.1 mL at a fixed potential of -1.0 V (vs. Ag/AgCl) in 0.1 M HCl and a flow rate of 3.5 mL/min. Furthermore, the glassy carbon electrode showed stable response in such a system, and the relative standard deviation was only 2.7% using the same surface, and 6.3% using different surfaces. The method developed was applied to the determination of aziprotryne in environmental and tap water samples; using a prior solid-phase extraction step, aziprotryne concentrations lower than 1.0 ng/mL could be measured.

Atrazine↗
PubMed2000

Spina bifida and parental occupation: results from three malformation monitoring programs in Europe.

As the evidence for an association between spina bifida and parental agricultural occupations is inconclusive, we evaluated this association and the potential associations between spina bifida and other parental occupations. Three register-based case-referent studies were conducted in Sweden, Spain, and Hungary. From the registries of congenital malformations in each country, 482, 478, and 1119 cases with spina bifida were identified, respectively. Identified as referents were 964, 434, and 1489 children without abnormalities. Information on parental occupation was available in the registries from questionnaires or interviews conducted among the parents. Occupations with a potential for physical or chemical exposure were compared to non-exposed occupations. Increased odds ratios (ORs) were observed for women in agricultural occupations in Sweden (OR: 1.8, 95% CI: 0.8-4.2) and in Spain (OR: 2.2, 95% CI: 0.8-5.9), but not in Hungary (OR: 1.1, 95% CI: 0.7-1.7). Several other parental occupations were analysed, but the associations with spina bifida were inconsistent. Concluding, the results are not totally consistent but point to an increased risk of spina bifida among women in agricultural occupations.

Adult↗
PubMed1999

Analysis of deformations in 26,810 consecutive infants with congenital defects.

Here we present the analysis of deformations observed in a series of 26,810 consecutive infants with congenital defects. We observed that 3.88% of these infants had deformations, for a prevalence figure of 0.07% live-born infants. From the present study we can conclude that there are three different types of deformation sequences: one with polyhydramnios, thin skin without dermal ridges, hypotonia, and multiple deformations (hypokinesia sequence), which is most often due to intrinsic problems; another with oligohydramnios, redundant thick skin, and multiple deformations, which can be produced by intrinsic or extrinsic factors; and the third, with normal amniotic fluid volume, which is due to compression of different causes. Deformations of extrinsic cause are more frequently isolated defects and have a better prognosis, while deformations of intrinsic origin are more frequently associated with other congenital anomalies and, generally, have a poor prognosis.

Congenital Abnormalities↗
PubMed1999

Smoking during pregnancy and Poland sequence: results of a population-based registry and a case-control registry.

As Poland sequence (PS) could have a vascular disruptive origin, here we analyzed the possible relationship between maternal smoking during pregnancy and PS, using data from two registries with different methodologies: the Hungarian Congenital Abnormality Registry (HCAR), which is a population-based registry, and the Spanish Collaborative Study of Congenital Malformations (ECEMC), which is a hospital-based and case-control study. The results presented here in a multivariate analysis, although based on a small sample size, suggest that maternal smoking during pregnancy may increase the risk for PS by about 2-fold. This result was similar in the two studied programs with different methodologies and different uncontrolled confounding factors. However, as this is the first time that PS has been associated with maternal smoking during pregnancy, further analyses are needed to confirm our findings.

Case-Control Studies↗
PubMed1998

Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers.

The association between maternal diabetes mellitus and congenital defects has been well documented. However, few data exist on the potential teratogenic effect of gestational diabetes (GD). We analyzed 19,577 consecutive infants with malformations of unknown cause and compared the offspring of mothers with GD with those of nondiabetic mothers. The children with each of 20 types of selected anomalies among the two groups were used to calculate the odds ratio (OR). Because we used as a reference group for each congenital defect the rest of malformed infants, the value of the OR gives us the specificity between the association of GD and each congenital defect. Our analysis strongly supports the suggestion that GD is a significant risk for holoprosencephaly, upper/lower spine/rib, and renal and urinary system anomalies. GD is a heterogeneous disorder, which includes previously unrecognized and newly diagnosed nongestational diabetes mellitus (DM). Thus, it is possible that the teratogenic effect is related to latent DM. However, because it is not possible at this time to differentiate between these situations, pregnancies complicated by GD should be considered at risk for congenital anomalies. Prenatal ultrasound examination should be aimed particularly at the detection of abnormalities of the central nervous system, the renal and urinary system, and the spine/rib developmental field.

Diabetes, Gestational↗
PubMed1998

Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain.

We analyzed Spanish Collaborative Study of Congenital Malformations (ECEMC) data on a series of 1,124,654 consecutive births to study congenital eye malformations from an epidemiological standpoint. We studied their frequencies as well as some causal and clinical aspects. Four hundred fourteen infants had eye malformations, for an overall prevalence of 3.68/10,000 newborns. Most frequent were: anophthalmia/microphthalmia (21.34/100,000), congenital cataract (6.31), coloboma (4.89), corneal opacity (3.11), and congenital glaucoma (2.85). In our data, the tendency of eye malformations to be associated with other congenital abnormalities is evident (only 21.01% of cases were isolated). Eye defects are heterogeneous, since we have observed them in clinical patterns with all modes of inheritance or caused by different environmental agents. Chromosomal syndromes represent 60% of total syndromes, followed by syndromes of autosomal-recessive inheritance (15%), environmental syndromes (10%), autosomal-dominant syndromes (5.83%), and other types which have a lower frequency. Regarding defects associated with eye malformations, most frequent are limb anomalies (affecting 59.3% of multiply malformed cases), auricular/facial (47.1%), central nervous system (42.5%), osteomuscular excluding limbs (42.2%), genital defects (30.6%), oral clefts (29.4%), and the rest of the body systems, which are less frequent. Using the method outlined by Prieto and Martínez-Frías [1996: Am J Med Genet 62:61-67], it was demonstrated that the association of coloboma and anophthalmia/microphthalmia was specific, as was the combination of cataract and anophthalmia/microphthalmia, and that of anophthalmia/microphthalmia with holoprosencephaly. From these statistical associations some pathogenetic relationships in human embryos can be inferred, supporting several previously proposed mechanisms.

Anophthalmos↗
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

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

[Brachmann-de-Lange syndrome in our population: clinical and epidemiological characteristics].

INTRODUCTION: We present the study of the clinical and epidemiological characteristics of Brachmann-de Lange syndrome in our population. PATIENTS AND METHODS: In this study we present the analysis of 13 cases of Brachmann-de Lange syndrome identified among 24,696 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1996. RESULTS: The minimum estimation of the prevalence in our population is 0.97 per 100,000 live births. We have epidemiologically confirmed the presence of intrauterine growth retardation and have observed that parental ages tend to be relatively young. We have observed a wide range of clinical expression of this syndrome. One hundred percent of our cases have limb reduction defects, followed in frequency by craniofacial alterations (84.62%), abnormal hair distribution (76.92%) and genital defects (69.23%). Upper limbs are predominantly affected and one case of diaphragmatic hernia is worth mentioning. We underline the importance of the differential diagnosis with Fryns'syndrome. CONCLUSIONS: The cases studied correspond to the most severe form of the syndrome, reason for which the prevalence is a minimal estimate. However, the mild forms of the syndrome are more frequent and it is important to consider that the face, especially the form of the eyebrow, could be a good guide for the diagnosis of mild forms of the syndrome.

De Lange Syndrome↗