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E E Castilla

Publications and source records attributed to E E Castilla.

89 records · Page 5Linked to original sources
PubMed1982

Inbreeding in a South-American newborn series.

Parental consanguinity was investigated in a series of 16, 137 non-malformed newborn infants, ascertained in 64 hospitals, of 27 cities, in seven South-American countries. Parental consanguinity was detected in 135 (0.84%) newborns, giving a mean inbreeding coefficient (a) of 0.00053. The subsamples for five of the seven countries (Brazil, Chile, Ecuador, Uruguay, Venezuela) showed similar consanguinity rates, of about one per cent, an a ranging from 0.00040 to 0.00070, approximately. One country, Argentina, had a three times lower value for both indicators: consanguinity rate: 0.3%, a: 0.00011. Another country, Peru, could not be individually analyzed because of its small sample size. Considering the whole South-American sample, first cousin represented 60% of all consanguineous matings. Significantly more female than male intermediate ancestors were counted in the specified total of consanguineous matings, suggesting a preferential consanguineous mating pattern for urban South-American populations.

Chromosome Aberrations↗
PubMed1981

Hypospadias: an epidemiological study in Latin America.

Epidemiological variables in relation to hypospadias were analyzed in a case-control study of a liveborn population from six Latin American countries. the frequency of hypospadias was 7.6 per 10,000 livebirths (324/423,839). The cases were divided into three types: distal (72%), proximal (18.5%) and non-specified cases (9.5%). The control group consisted of the first nonmalformed child born after each of the patients and was matched by sex, place, and time of birth. Other coexisting malformations were found in 13.6% of cases. The Brazilian sample showed the highest incidence rate (17.7/10,00) and also the highest incidence of severe forms (5.0/10,000) as compared with the other countries. a circannual rhythm was detected using several different statistical procedures. Low mean birth weight, twinning, vaginal bleeding, and drug exposure during the 1st trimester (particularly sex hormones) were found to be risk factors. The more severe forms had a higher neonatal mortality rate and higher inbreeding when compared with the controls or milder forms. The heritability coefficient was 0.6772 +/- 0.0675. The possible role of maternal sex hormone intake and disturbances of human chorionic gonadotropin during the first trimester are discussed.

Birth Weight↗
PubMed1981

Epidemiology of congenital pigmented naevi: II. Risk factors.

Genetic and environmental risks factors were investigated in a sample of 989 non-malformed newborn infants with skin pigmented naevi (PN), and in 989 non-malformed non-PN, control babies. The samples were obtained from a population of 531,831 livebirths, from fifty-nine South-American maternity hospitals. No significant differences were observed between the PN and control groups for the following risk factors: sex, twinning, parental consanguinity, socioeconomic level, parental ages, birth order, fetal presentation, type of delivery, postnatal mortality, and first trimester of pregnancy histories for maternal chronic illnesses or immunizations, radiation exposure, drug intake, and vaginal bleeding. PN infants were associated with high frequencies of Black racial ancestry, positive prenatal history for maternal acute illnesses, and high mean values for length of gestation and birth weight. The observed association of PN with maternal acute illnesses could be a spurious one, due to partial dependence upon Black racial ancestry, and to maternal memory bias. The analysis of the intrauterine growth curves showed that PN infants have a low prematurity rate, and a high mean by the control newborn group. This observation suggest that congenital PN appear in the latest stages of intrauterine development. No evidence was obtained to allow us to consider congenital PN as true developmental anomalies.

Birth Weight↗
PubMed1980

Syndactyly: frequency of specific types.

Syndactyly without other combined limb anomalies, Poland complex, or amniotic bands, was diagnosed in 174 of 599, 109 consecutive newborn infants (3/10,000). Syndactyly was the only diagnosed anomaly in 133 cases, and it was associated with other anomalies in 41. The most common type of syndactyly was isolated syndactyly of the second and third toes (70 cases), which affected more males than females, and had a higher than expected frequency of white non-Latin-European ancestry. The second most frequent type was isolated syndactyly of the middle and ring fingers (18 cases), and the third was isolated syndactyly of the fourth and fifth toes (13 cases). Considering both isolated and syndromal cases, 66% (114/172) could be assigned to one or another of the fourth genetic categories of syndactyly described by Temtamy and McKusick [1978]. This, plus the high frequency of affected first degree relatives observed (25/434:6%), suggests that the genetic forms of syndactyly may be more common than might be suspected from the small number of pedigrees in the literature.

Black People↗
PubMed1979

Pectoralis major muscle defect and Poland complex.

Pectoralis major muscle defect (PMD) was diagnosed in 27 infants from a series of 599,109 live births in South America (1/22,189). In all 27 cases the PMD was unilateral, mainly affecting the right side (20/27), and there were more male (19/27) than female cases. No familial cases and no parental consanguinity were recorded. A positive correlation was observed between PMD and sex hormone intake and vaginal bleeding in the first trimester of pregnancy. In 12 (1/49,925) of the 27 PMD cases hypoplasia and/or syndactyly of the ipsilateral hand was also diagnosed. The index-middle interdigital space was affected in all 11 cases with symbrachydactyly. Additional congenital anomalies were observed in 4/27 cases, and they were: hemangiomas, hypospadias, and clubfeet. Poland complex (12 cases), isolated PMD (15 cases), and isolated symbrachydactyly (18 cases), showed a similar pattern for symmetry, sidedness, syndactyly type, and sex ratio.

Adult↗
PubMed1977

Descriptive system for congenital limb anomalies.

A descriptive system for the nomenclature, notation and classification of congenital limb malformations, suitable for clinical, epidemiological and experimental use is presented. Every developmental limb anomaly is described by stating the type of anomaly and the affected anatomic structure. All anomalies are classified into three basic types: excess, deficiency and fusion. The anatomic structure of the affected limb is defined within a two dimensional order. This system was used to describe 652 cases with isolated developmental limb anomalies obtained from two series of observations. The observed data are presented in a progressively expanded classification ranging from 4 to 497 diagnostic categories. Observed incidence rates for the four main types of anomaly from a sample of 297,299 consecutive livebirths, are: excess: 1.22; deficiency: 0.17; fusion: 0.20; combined: 0.24 per thousand.

Adolescent↗
PubMed1977

Patterns of combined limb malformations.

Seven different limb malformations types were defined in 544 affected newborns, apparently free from other anomalies, obtained from a series of 297,299 livebirths. These seven malformation types were: polydactyly, limb reduction, brachydactyly, symphalangy, syndactyly and split hand/foot. One anomaly type was present in 472 newborns (1.58/1,000) and two or three in 72 (0.24/1,000). The observed combinations of two or three limb malformation types cannot be explained as chance association. Therefore, a common etiopathogenic mechanism has to be considered when two or more limb malformation types are combined in a given individual. The most frequent observed combinations were: reduction-brachydactyly, reduction-syndactyly, brachydactyly-syndactyly, polydactyly-syndactyly, and reduction-brachydactyly-syndactyly. Based on affected limb distribution, sex ratio, and familial recurrence rates, it is suggest that a reduction anomaly is the primary component in all tested combinations while syndactyly tends to be a secondary one when combined with any other limb anomaly type.

Abnormalities, Multiple↗
PubMed1975

Neonatal testicular torsion in two brothers.

Two brothers presenting neonatal testicular torsion are reported. The findings suggest an autosomal or X-linked recessive pattern of inheritance for the anatomical underlying anomaly.

Genes, Recessive↗
PubMedDate not supplied

An international collaborative study of the epidemiology of esophageal atresia or stenosis.

Epidemiologic data were analyzed for a total of 2,693 infants with esophageal atresia registered in nine congenital malformation registries around the world. The average recorded prevalence at birth was 2.6 per 10,000 births, with a significant variability among programs--and sometimes within a program--and a maximum prevalence of above 3 per 10,000 births. Clusters of infants with esophageal atresia were observed but may be random. An increasing rate was seen during the period 1965 to 1975 (Norway, South America, Sweden). The type of esophageal atresia was specified in only 439 cases, but no major differences were seen in the epidemiologic characteristics of infants with the most common type (distal fistula) and infants with other types. There was an excess of low birth weight and preterm birth, and infants with esophageal atresia had a birth weight 500 to 1,000 g less than normal infants in each gestational week. There was an excess of twins, apparently mainly or exclusively due to monozygotic twinning, but in only two pairs did both twins have esophageal atresia. There was no effect seen of maternal age, but low parity, irrespective of maternal age, was associated with an increased risk for esophageal atresia. Infant survival varied among programs and depended heavily on associated malformations. Among 1,107 sibs born before the proband and 385 born after the proband, only 25 (1.7%) had a serious malformation; three had esophageal atresia. In 57.3% of the infants with esophageal atresia, no other malformations were present, in 36.4% other major malformations were recorded, and in 6.3% there were chromosomal anomalies. The malformations present associated with esophageal atresia were analyzed: a large proportion entered the constellation sometimes called "caudal mesoderm spectrum of malformations": VATER, Potter, and caudal regression sequences.

Birth Weight↗
PubMedDate not supplied

On the symmetry of limb deficiencies among children with multiple congenital anomalies.

In humans, unpaired organs are placed in a highly ordered pattern along the left-right axis. As indicated by animal studies, a cascade of signaling molecules establish left-right asymmetry in the developing embryo. Some of the same genes are involved also in limb patterning. To provide a better insight into the connection between these processes in humans, we analysed the symmetry of limb deficiencies among infants with multiple congenital anomalies. The study was based on data collected by the International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS). Registries of the ICBDMS provided information on infants who, in addition to a limb deficiency, also had at least one major congenital anomaly in other organ systems. We reviewed 815 such cases of which 149 cases (18.3 %) were syndromic and 666 (81.7 %) were nonsyndromic. The comparisons were made within the associated limb deficiencies, considering the information on symmetry, using a comparison group with malformations associated not involved in the index association. Among the non-syndromic cases, the left-right distribution of limb deficiencies did not differ appreciably between limb deficiency subtypes (e.g., preaxial, transverse, longitudinal). The left-right distribution of limb anomalies did not differ among most types of non-limb anomalies, though a predominance of left-sided limb deficiencies was observed in the presence of severe genital defects - odds ratio [OR], 2.6; 95 % CI, 1.1-6.4). Limb deficiencies (LDs) were more often unilateral than bilateral when accompanied by gastroschisis (OR, 0.1) or axial skeletal defects (OR, 0.5). On the contrary, LDs were more often bilateral than unilateral when associated with cleft lip with or without cleft palate (OR, 3.9) or micrognathia (OR, 2.6). Specifically, we found an association between bilateral preaxial deficiencies and cleft lip, bilateral amelia with gastroschisis and urinary tract anomalies, and bilateral transverse deficiencies and gastroschisis and axial skeleton defects. Of 149 syndromic cases, 62 (41.6 %) were diagnosed as trisomy 18. Out of the 30 cases of trisomy 18 with known laterality, 20 cases were bilateral. In the remainder the right and left sides were equally affected. Also, in most cases (74.4 %) only the upper limbs were involved. In conclusion the left-right distribution of limb deficiencies among some non-limb anomalies may suggest a relationship between the development of the limb and the left-right axis of the embryo.

Abnormalities, Multiple↗
PubMedDate not supplied

Pregnancy outcome in natural family planning users: cohort and case-control studies evaluating safety.

Conceptions involving aging gametes are of relevance to natural family planning (NFP) because women using NFP to avoid pregnancy abstain from intercourse during the fertile time of the cycle. To help verify the safety of pregnancies occurring among NFP practitioners, our group has, since 1986, conducted a large cohort study involving six experienced NFP centers. Timing of conception was determined from NFP charts, in which women recorded days on which intercourse occurred. The number of days from the most probable conception intercourse to probable day of ovulation was first determined, and used as an estimate of the time gametes remained in the genital tract before fertilization. Several studies have already been completed, cohort as well as case-control in nature.

Abortion, Spontaneous↗
PubMedDate not supplied

Genealogical information and the structure of rural Latin-American populations: reality and fantasy.

Genetic data organized in the form of genealogies can provide much information regarding the history and genetic structure of human populations. A large proportion of the population of Latin America is organized in small rural semi-isolated communities, with little immigration, and until the last 50-100 years, little emigration. These communities have a strong sense of their genealogical history, and this "genealogical conscience' is a frequent leitmotif in modern Latin-American literature. In this communication, we compare the characteristics of fictitious genealogies described in two masterpieces of Latin-American literature, García Márquez' Cien Años de Soledad (A Hundred Years of Solitude), and Verissimo's O Tempo e o Vento (Time and the Wind), with one existing well-studied population in Argentina, Aicuña. All three populations exhibit a number of common characteristics, such as histories of long periods of civil war, and large pedigrees with complex paths of inheritance resulting in complex patterns of inbreeding. Genetic themes common to all three are: (1) the use of genealogical records to substantiate the property of the land or the political power of a kinship; (2) the genealogical registry of biological descendants, independent of their legal or marital status in the clan; (3) the existence of pedigrees of the aristocratic branches in the same kindreds, which illustrate the legal principle of primogeniture; (4) the value of last names as indicators of kinships and the extent of genetic isolation, and (5) the awareness of the deleterious consequences of consanguinity.

Argentina↗