Search PubMed⌕ Search

Biomedical subjects

E E Castilla

Publications and source records attributed to E E Castilla.

At least 73 records · Page 4Linked to original sources
PubMed1992

Previous miscarriage and stillbirth as risk factors for other unfavourable outcomes in the next pregnancy.

OBJECTIVE: To look for associations between previous fetal loss and fetal malformation or low birthweight in a subsequent pregnancy. DESIGN: A case-control study with place of birth, time and sex matched controls. SETTING: 72 South American maternity hospitals. SUBJECTS: 18,534 malformed, 1150 non-malformed babies of low birthweight and 16,394 controls. All babies were from mothers with at least one previous pregnancy. MAIN OUTCOME MEASURES: Frequency of stillbirths and miscarriages in the previous pregnancy and outcome of the index pregnancy. RESULTS: Multiple malformation, Down's syndrome, anencephaly, spina bifida, pes equinovarus, congenital dislocation of the hip and low birthweight are associated with previous fetal loss. CONCLUSION: A miscarriage or a stillbirth in a previous pregnancy should be taken into account when the risk of malformations or low birthweight in a subsequent pregnancy is assessed.

Abortion, Spontaneous↗
PubMed1992

The cyclops and the mermaid: an epidemiological study of two types of rare malformation.

Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. Maternal age is somewhat increased for cyclopia, indicating the likely inclusion of some chromosomally abnormal infants which were not identified. About half of the infants are stillborn. There is a female excess among infants with cyclopia. Excess twinning occurred for cyclopia and possibly also for sirenomelia. An analysis of associated malformations indicates the similarity between the two conditions, which is in agreement with recent embryological analysis.

Abnormalities, Multiple↗
PubMed1991

Parental fertility and infant hypospadias: an international case-control study.

The authors have performed an international case-control study on the significance of exogenous hormones for the origin of hypospadias (Källén et al., 1991 a,b). Using data from this study on 846 infants with isolated hypospadias and equally many controls (next male infant born in the same hospital as the case), variables that might indicate an increased rate of fertility problems in couples who had a boy with hypospadias were studied. Cases had slightly fewer previous pregnancies, there was practically no difference in the rate of previous induced abortions, and no demonstrable difference in menstrual history. Infertility periods of at least 6 months were more likely among cases than controls but the difference did not reach statistical significance in a two-tailed test. There was no demonstrable difference in the time to conceive between cases and controls. The difficulties of directly studying subfertility problems are stressed.

Case-Control Studies↗
PubMed1991

Oral contraceptives in the etiology of isolated hypospadias.

With the objective of identifying whether hypospadias in infants is associated with maternal use of oral contraceptives before pregnancy or in early pregnancy, 846 case-control pairs were collected from eight different malformation monitoring programs around the world and mothers were interviewed using structured questionnaires administered after the birth of the infants. There was no difference in the preconceptional use of oral contraceptives between cases and controls, neither with respect to the number of years of oral contraceptive usage nor the time between stopping oral contraceptives and the present pregnancy. To this material was added data on oral contraceptive usage in early pregnancy from two other sources: an ongoing case-control study in Spain (725 infants with hypospadias) and a population-based study in Sweden (631 infants with hypospadias). There was no statistically significant difference in oral contraceptive exposure in early pregnancy between cases and controls. There is no demonstrable association between oral contraceptive use and infant hypospadias.

Contraceptives, Oral↗
PubMed1991

Stillbirth rate and associated risk factors among 869 750 Latin American hospital births 1982-1986.

Fetal death is essential to evaluate perinatal outcome. Accurate stillbirth rate however is difficult to obtain; this is especially so in developing countries. Current information was obtained through a clinical-epidemiological study, ECLAMC, during the 1982-1986 period for a total sample of 869 750 births in 102 hospitals belonging to 11 Latin American countries. The overall stillbirth rate was 2.0%, the highest being in Bolivian (4.4%) and the lowest in Chilean hospitals (0.9%). In all countries there was a high mortality rate among male fetuses. The incidence of stillbirth in multiple pregnancies almost doubled that for singletons. A steady increase with increasing maternal age was observed. The proportion of all births in mothers 35 years of age or older was 10.1%, while the stillbirth proportion among all stillbirths in the same maternal age group was 18.8%. As expected, a higher fetal mortality rate (10.7%) was found in the low birthweight group (less than or equal to 2500 g) than in the group with birthweight greater than 2500 g (0.6%). One out of ten births occurred in the former group. A striking difference was observed in the stillbirth rate between hospitals with free obstetrical care (2.5%) and those in which any type of payment was required (1.4%). Although socioeconomical factors are probably the main factors responsible for fetal death, increased maternal age and a high incidence of low birthweight also contributed greatly to fetal mortality. These risk factors for fetal mortality should be the target of public health actions in these countries.

Adolescent↗
PubMed1991

Frequency of first-cousin marriages from civil marriage certificates in Argentina.

In Argentina information concerning relatedness of mates, especially first cousins, was introduced into the legal marriage certificate, record, and statistical report in 1968. The 1980-1981 biennial data, including 212,320 legal marriage reports, were analyzed for all of Argentina, subdivided into 22 states and 494 counties. The registered 0.373% of first-cousin marriages allows an estimate of consanguineous marriages of 0.629% and a mean inbreeding coefficient of alpha = 0.00031. This estimate lies between the observed alpha = 0.00011 from hospital births and alpha = 0.00052 from Roman Catholic Church dispensations. These differences are not large, and they may be due to sampling variations, indicating a low rate of inbreeding in Argentina. The frequency of first-cousin marriages in the 22 Argentine states is heterogenous, and 9 counties, representing 5 different regions, were identified as having a high rate of first-cousin marriage. Three of these were previously known as genetic isolates. A second series of data, including all 32,690 legal marriages registered in the state of Buenos Aires during the first half of 1984, showed a frequency of first-cousin marriages of 0.677%. First-cousin mates, compared with non-first-cousin mates, had a higher frequency of both mates being born in the same state of Buenos Aires and similar frequency distributions for age at marriage, single previous marriage status, level of education, and rate of unemployment. It is concluded that legal marriage data on consanguinity is reliable, inexpensive, universal, and enduring. The last two characteristics make them suitable for the survey of geographic clusters and time trends.

Argentina↗
PubMed1990

Monthly and seasonal variations in the frequency of congenital anomalies.

Three large and comparable series of births were used to test the working hypothesis that if there is a real seasonal variation in the frequency of a given congenital malformation; it would have to be shown by adequate analysis; to be more overt in non-tropical areas; and to be six months out of phase in northern and southern hemispheres. The data set were hospital births from tropical (287,165 births) and non-tropical (582,585 births) South America, and from Italy (508,536 births). Sixteen well-defined malformation types were tested: anencephaly, spina bifida, cephalocoele, hydrocephaly, microtia, cleft palate, cleft lip, oesophageal atresia, anal atresia, hypospadias, pes equino-varus, pes talovalgus, postaxial polydactylyl, pre-axial polydactylyl, diaphragmatic hernia, and Down's syndrome. No seasonal variation was proven (p less than 0.01) for any malformation type in any of the three series of data by means of Walter and Elwood's test, or Hewitt et al's non-parametric test2 applied to seven instances with sample sizes smaller than 50 cases. Variations of borderline significance (p less than 0.05) included oesophageal atresia in tropical South America, none in non-tropical South America, and anencephaly in Italy. It is concluded that seasonal variation in the occurrence of congenital malformations is a rare phenomenon when tests are strictly used within their recommended limitations.

Congenital Abnormalities↗
PubMed1990

EL BUSCA and the value of signals in the diagnosis of dysmorphic syndromes: good and bad handles in computer assisted differential diagnosis.

A computer system for the assistance of syndrome diagnosis in dysmorphology (EL BUSCA) was developed, and used to test the mechanics of the diagnostic process. EL BUSCA has a reference file (REF) with 200 syndromes, expressed in 175 signals. Signals have a weight value resulting from the difference between the number of syndromes including that sign and the total number of syndromes in the REF. A mean signal weight was calculated for each syndrome. The system was tested with 200 published cases (CASES), representing 82 different syndromes. Each consultation (CONS) entered up to 15 patient signals. The system then selected syndromes having three or more of those signals. 'Present' (REF+CASE), 'Absent' (REF only), and 'Additional' (CASE only) signals, as well as the score given by the sum of the weights of 'present' signals, were displayed for each suggested diagnosis. A consultation was successful (positive answer) if the correct diagnosis appeared among the first 12 ranked. EL BUSCA gave a positive answer in 82% of the 200 test consultations. Linear regression, with ranking of the correct diagnosis among the answers as the dependent variable, was used for the analysis of the following results. For the REF, no relationship was found for either the number or the mean weight of the signals with the ranking of the correct diagnosis. For the CASES, there was a linear relationship between the number of signals of each consultation and the ranking of the correct diagnosis, indicating that the larger the number of signals consulted, the lower the ranking of the correct diagnosis. No effect was seen for the mean weight of consulted signals.(ABSTRACT TRUNCATED AT 250 WORDS)

Congenital Abnormalities↗
PubMed1989

Acrocallosal syndrome in a girl born to consanguineous parents.

The present report describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, bifid uvula, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication. Partial agenesis of the corpus callosum and central diffuse cortical cerebral atrophy was documented on computed tomography. Chromosomes were normal. Parents were related as half first cousins. Their previous pregnancy had ended in a miscarriage. We suggest that this patient has an acrocallosal syndrome inherited as an autosomal recessive trait. This supports other recent reports that have considered this entity to differ from Greig cephalopolysyndactyly.

Abnormalities, Multiple↗
PubMed1989

Anticonvulsant drugs and malformations is there a drug specificity?

The distribution of anticonvulsant drug therapy was studied in 318 malformed infants with known histories of maternal epilepsy. Data on the infants was collected from six birth defect monitoring programs in Europe and South America. Use of specific types of anticonvulsants varies widely among reporting countries. Heterogeneity of drug-malformation distribution, was analyzed to determine whether use of specific drugs were linked to specific malformations. A significant association was seen between maternal use of valproic acid and spina bifida, and a weaker, non-significant one between carbamazepine and spina bifida. Facial clefts were associated with both diphenylhydantoin and phenobarbitone use and also with polytherapy. These differences indicate that the actual drug used is significant for the teratogenic process. The technique may be useful in analysis of other drug-related teratogenic questions.

Abnormalities, Drug-Induced↗
PubMed1988

The epidemiology of conjoined twins in Latin America.

Twenty-three cases of symmetrical conjoined twins were registered by the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) in 1,714,952 births, which were observed during the 1967-1986 period in 95 maternity hospitals distributed in eleven Latin-American countries. This results in a birth prevalence rate of about 1/75,000 births. The secular and geographic distribution of this material do not depart from random in spite of one hospital with three cases, and two hospitals with two cases each, within a short time period. These 23 cases include one diprosopus, 3 dicephalus, one ischiopagus, 5 pygopagus, none dipygus, 3 syncephalus, none craniopagus, 9 thoracopagus, one omphalopagus, and one rachipagus. Sex distribution is even, with 12 male and 11 female cases.

Brazil↗
PubMed1987

Epidemiology of ambiguous genitalia in South America.

We present descriptive epidemiologic data on ambiguous genitalia (AG), obtained in the period 1967-1982 by the Latin American Collaborative Study of Congenital Malformations (ECLAMC) through 70 participating hospitals located in 34 cities of 9 South American countries. The observed prevalence rate for isolated AG was about 1/20,000 births, with at least 1/4 and probably as much as 1/2 due to congenital adrenal hyperplasia. When AG cases associated with other congenital anomalies were also considered, the overall frequency of AG was 1/6,900 total births (1/10,000 for live and 1/350 for stillbirths). The prevalence rates were homogeneously distributed among the different countries, and there was a stable secular trend. AG was more frequent in nontropical than in tropical areas of South America, and there was a significant seasonal variation with its acrophase in August (winter). A case-control analysis of 14 risk factors showed an association of AG with a prenatal history of acute maternal illnesses. These data do not support an etiological relationship between AG and hypospadias.

Female↗
PubMed1986

Prevalence rates of microtia in South America.

A high frequency of microtia in Quito (Ecuador) was detected by the Latin American Collaborative Study of Congenital Malformations (ECLAMC), and the data available on file were used to define the cluster and to test some potential risk factors. The Quito material consisted of 46 041 livebirths from two hospitals. The rest of the sample consisted of 553 068 livebirths from 58 hospitals located in 24 cities of six other South American countries. The observed prevalence rate for microtia was over five times higher in Quito (17.4/10 000) than in the other cities (3.2/10 000). The microtias from Quito were mostly represented by isolated forms (without other anomalies except for preauricular tags and/or sinuses), and the proportion of severe microtia was higher than in the rest of the sample. Neither seasonal, nor secular variations were observed in Quito or the rest of the sample; data suggesting the geographical cluster did not arise in recent years. Case-control analysis of familial, prenatal and perinatal history data in 184 cases with isolated microtia (68 from Quito and 116 from the rest) and in 184 matched non-malformed control newborn babies, identified prenatal drug exposure, high birth order, and elevated paternal age as risk factors for the microtias born in Quito.

Age Factors↗
PubMed1986

The birth prevalence rates for the skeletal dysplasias.

This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), for the years 1978 to 1983, on 349 470 births (live and stillbirths), a crude prevalence rate of 2.3/10 000 was observed. However, several indications of under-registration suggest that the real value is about twice that observed. The most frequent types of skeletal dysplasia were achondroplasia, with a prevalence rate between 0.5 and 1.5/10 000 births, the thanatophoric dysplasia/achondrogenesis group (0.2 and 0.5/10 000 births), and osteogenesis imperfecta (0.4/10 000 births). The mutation rate for autosomal dominant achondroplasia was estimated at between 1.72 and 5.57 X 10(-5) per gamete per generation.

Achondroplasia↗
PubMed1985

Epidemiology of neural tube defects in South America.

We present data from the Latin American Collaborative Study of Congenital Malformations (ECLAMC) on prevalence rates and etiologic factor associations in neural tube defects. Two series of data are analyzed: the A series, including 740,139 consecutive infants born in the 1967-1979 period suitable for secular trend analysis and case-control study of risk factors; and the B series, including 255,834 consecutive stillborn and liveborn infants of the 1980-1982 period suitable for prevalence rate analysis. Anencephaly was registered in 6.0/10,000 births, A spina bifida aperta in 6.2/10,000 births, and cephalocele in 2.4/10,000 births. A stable secular trend was observed for the frequency of all three neural tube defect types. Spina bifida was more frequent in Chile than in the rest of South America. No differences in prevalence rates were seen between tropical and non tropical areas. Parental consanguinity and environmental prenatal factors including maternal illnesses, drug intake, and radiation exposure were found in association with anencephaly and spina bifida.

Anencephaly↗
PubMed1985

On monitoring the multiply malformed infant. I: Case-finding, case-recording, and data handling in a Latin American program.

The methods used by the Latin American Collaborative Study of Congenital Malformations (ECLAMC) for monitoring the birth prevalence of multiply malformed infants are based on a clinical-epidemiological approach oriented to the early detection of teratogenic agents. They consist of three steps: 1) the analysis of observed vs expected rates of all congenital anomalies (CA), including their isolated and associated forms; 2) the same type of analysis applied to each multiple congenital anomaly (MCA) pattern; and 3) a clinical case presentation reserved only for those considered as true MCA because of presence of three or more independent CA. During the period 1982-1983 299,231 infants were examined. Multiply malformed infants, excluding Down syndrome cases, were born at a rate of 4/10,000, 40% having syndromes (two or more interrelated CA), 30% anomaly pairs, ie, two independent CA, and 30% true MCA cases. In a program with 150,000 births per year, as in ECLAMC, this means about five true MCA cases per week, a number easily handled individually on a clinical basis.

Abnormalities, Multiple↗