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E Robert

Publications and source records attributed to E Robert.

At least 73 records · Page 4Linked to original sources
PubMed1995

Descriptive epidemiology of alimentary tract atresia.

A study has been made on certain epidemiological characteristics of infants with alimentary tract atresia: esophageal atresia, small and large gut atresia, and anal atresia. Data were collected from three malformation registries and represent a material of more than 4.5 million births. A total of 3,550 infants with alimentary atresia were identified corresponding to a total rate of about 8 per 10,000 births. In 167 infants (4.7%) more than one of the major atresia types were present simultaneously. Racial differences were found (based on data from California) for esophageal atresia where whites had a higher rate than other races. For gastrointestinal atresia, a high rate in blacks was found, while no differences between races were seen for anal atresia. Also, differences in registered rates between the three programs were found, at least partly explainable by different ascertainment. The different forms of atresia were compared from the point of view of sex ratio, twinning rate, maternal age and parity distribution, presence of chromosome anomalies, and types of associated malformations. The pathogenesis and etiology of the various types of atresia are discussed based on these observations. The conclusion is that although undoubtedly other pathogenetic mechanisms may exist for gastrointestinal atresia, a substantial proportion of all infants with alimentary atresia had their malformations as a result of early disturbances of intestinal morphogenesis. Within each subgroup, apparently different etiologies may exist, resulting in differences in epidemiological characteristics.

Adolescent↗
PubMed1995

[Doppler velocimetry in the umbilical, middle cerebral and aortic arteries, before and after cordocentesis].

OBJECTIVE: Prospectively evaluate the effect of cordocentesis on the umbilical, fetal cerebral and aortic circulation. METHOD: Fetal blood was sampled for diagnostic purposes in 21 pregnant women at 21 to 38 weeks gestation. Ten patients undergoing amniocentesis served as controls. The resistance index (RI) in the umbilical and middle cerebral arteries and the mean blood velocity (Vm) in the descending aorta were measured with pulsed Doppler before and after blood sampling. Variations in umbilical and cerebral RI and in aortic Vm were recorded. RESULTS: There was a significant drop in both umbilical RI (mean +/- SD = -0.049 +/- 0.078; p = 0.009) and middle cerebral RI (-0.077 +/- 0.058; p < 0.0001) after cordocentesis. The drop in umbilical RI was greater when the second Doppler measurement was made early, when the blood was sampled transplacentally and in early gestational age. Reduction in fetal cerebral artery RI was also greater for transplacental puncture. The fetal descending aorta Vm did not change significantly after blood sampling. There were no variations in Doppler index before and after amniocentesis. CONCLUSIONS: Changes in blood flow velocity waveforms as measured by pulsed Doppler in the umbilical and fetal cerebral arteries can be induced by fetal blood sampling. Decreased resistance in the placenta and fetal circulation would imply release of nitric oxide.

Adult↗
PubMed1994

International study of sex ratio and twinning of neural tube defects.

The goal of this study, based on information collected from eight congenital malformation registry programs around the world, was to analyze sex and twinning of affected infants and fetuses, according to type of neural tube defect (NTD) and other variables. The type of defect and its location, whether it occurred in isolated form or was associated with other malformations, population from which data were retrieved, vital status of the infant, and gestational age of the fetus/infant were considered. The material included 3,416 infants and 168 selectively aborted fetuses with anencephaly, 4,830 infants and 76 fetuses with spina bifida, and 1,022 infants and 19 fetuses with encephalocele. Less than 20% of infants with anencephaly or spina bifida and more than one-third of infants with encephalocele had associated malformations. A female excess was found among all infants with NTD but a male excess in fetuses delivered spontaneously before week 20, indicating selective male late fetal deaths. Sex ratio varied by type of NTD, vital status at birth, presence of associated malformations, and year of birth, with an increasing sex ratio for anencephaly during the 1960s and 1970s. Twinning was positively associated with NTD but the extent of this association varied with NTD type and program, while the distribution by sex type of pair of twin appeared to be similar to that of all births. Twins concordant for anencephaly or encephalocele were mainly found when the defect occurred as part of a syndrome, and only in like-sexed pairs. Twins concordant for spina bifida had the isolated form of the defect and 5 of 6 pairs were like-sexed.(ABSTRACT TRUNCATED AT 250 WORDS)

Diseases in Twins↗
PubMed1993

Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries: an international feasibility study.

Using data from seven malformation monitoring systems around the world, the feasibility of monitoring fresh dominant mutations using skeletal dysplasias was explored. Based on a total of over 9.5 million births, 1500 infants with skeletal dysplasias were identified (16 per 100,000). In spite of efforts to get exact diagnoses, an average of 21% were unspecified. Comparisons of rates of specific diagnoses in different programmes suggested that classification differed. By analysing maternal age distribution, estimates were made of the proportion of fresh mutations in different subgroups: conditions regarded as dominant (achondroplasia, thanatophoric dysplasia, spondyloepiphyseal dysplasia) were estimated to consist of 58% fresh mutations--some of the remaining cases were inherited, others were probably misclassified. Among conditions regarded as recessive, only 5% were estimated to be truly dominant mutations. In the total group of skeletal dysplasias, 21% were estimated to be fresh dominant mutations and if osteogenesis imperfecta were excluded, the figure was 31%. By power analyses it was shown that equal monitoring power may be obtained by a programme covering about 45,000 births per year with intensive diagnosis of each individual case of skeletal dysplasia and a programme some three times greater where no specific diagnoses are obtained. An increasing trend in the occurrence of skeletal dysplasias was seen but probably explained by changing ascertainment. An impact of antenatal diagnosis resulting in a decrease in occurrence was also apparent in some programmes.

Adult↗
PubMed1992

Absence of limbs and gross body wall defects: an epidemiological study of related rare malformation conditions.

The study is based on almost 10 million births and reports on 215 infants with two unusual malformations: amelia and gross body wall defect. Amelia without body wall defect was present in 116 cases, 67 had body wall defects without amelia, and 32 had both. The total rate was 2.2 per 100,000 births. The infants were divided into five mutually exclusive groups. There were 40 infants (0.4 per 100,000) with agenesis of the body stalk, 18 with amelia and other types of gross body wall defects (0.2 per 100,000), 56 with amelia and malformations other than gross body wall defects (0.6 per 100,000), 41 with amelia (with or without other limb reduction defects) but no nonlimb malformations (0.4 per 100,000), and 60 infants with gross body wall defects of a type other than agenesis of body stalk and without amelia (0.6 per 100,000). A weak trend of decreasing prevalence of these malformations was found during the observation period. Infants with agenesis of the body stalk and infants with amelia combined with other types of gross body wall defects occurred at an increased rate in infants of young women. This maternal age effect is also found with gastroschisis, but not with omphalocele, and may indicate etiological or pathogenetic similarities between gastroschisis and the two former groups of defect. In infants with amelia, additional limb reduction defects could be of any type: transverse, longitudinal, or intercalary. Therefore, amelia may be the end result of different types of disturbances of limb morphogenesis. There was an increased rate of twinning. The relationship with amniotic band syndrome is discussed.

Abdominal Muscles↗
PubMed1992

An international case-control study on hypospadias. The problem with variability and the beauty of diversity.

The paper describes problems and advantages in an international cooperative study of a case-control design, aimed at investigating the possible association between exogenous hormones and hypospadias. The varying degrees of the ascertainment of specific exposures and risk factors, in spite of the use of a standardized questionnaire is illustrated. Definite support for the existence of recall or interviewer bias is presented. On the other hand, the multipopulation design offers possibilities to make use of the diversity of the populations: differences in reproductive patterns and in specific exposures such as drug use, smoking and maternal occupation.

Bias↗
PubMed1992

Clinical and laboratory presentation of lichen planus patients with chronic liver disease.

A recent case-control study on 577 lichen planus (LP) patients and 1008 controls confirmed that LP patients may significantly associate with a chronic liver disease (CLD) which is independent from drug or alcohol intake and has some connection with hepatitis B virus (HBV) infection. The study, however, failed to define the nature of CLD. This has been investigated through the clinical and laboratory features of 50 patients with LP and impaired liver function tests. Overall, the laboratory signs of cell necrosis prevailed over those of cholestasis and a good relationship with the HBV and HCV infections was found. Ninety percent of patients with LP and CLD had antibodies to one or another of the major viruses involved in infectious hepatitis. No patient had anti-liver kidney microsomal antibodies type 1. Liver biopsies were done in 12 cases and mostly revealed a chronic active hepatitis evolving into cirrhosis. No evident cases of primary biliary cirrhosis were found. It appears that LP associated CLD is post-viral in nature.

Hepacivirus↗
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↗
PubMed1992

Hepatocellular carcinoma and lichen planus: report of two cases.

A patient with lichen planus (LP) who developed a hepatocellular carcinoma as a consequence of a postviral chronic hepatitis is described. Its possible noncoincidental association with LP is discussed on the basis of a recent large case-control study in which the association of LP with chronic, possibly postviral, liver disorders has been confirmed. In the same study 1 case out of 577 LP patients was found to have hepatocellular carcinoma versus none of the 1,031 controls, a prevalence which is higher than expected in a western population.

Carcinoma, Hepatocellular↗
PubMed1992

[Epidemiology of cleft palate and cleft lip inthe Rhône-Alpes/Auvergne/Jura region. Apropos of 903 cases registered 1978-1987].

Data from the Rhône-Alpes/Auvergne birth defects registry have been used to realise an epidemiological analysis of facial clefts (cleft palate and total cleft lip). Between 1978 and 1987, 903 cases have been ascertained giving an incidence of 0.67 per 1,000 for cleft lips with/without cleft palate (CLP) and 0.44 per 1,000 for cleft palates (CP). Several epidemiological characteristics have been studied: CLP are more frequent in males, and CP are more frequent in females. There is no detectable time trend, and birthweights are significantly lower in affected children than in the general population. There are more twins, more maternal epilepsy and more stimulations of ovulation in the studied sample than in the general population. The ranks of birth are higher in CP and CLP than in general population. The incidence of facial clefts in first degree relatives is 50 to 60 times the one in the general population, which is comparable to the literature findings.

Cleft Lip↗
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↗