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Biomedical subjects

E Robert

Publications and source records attributed to E Robert.

At least 91 records · Page 5Linked to original sources
PubMed1991

Is trisomy 18 increasing in Sweden? An analysis of the syndrome during a ten year period and a comparison with a French registry.

This paper reports an analysis of trisomy 18 in Sweden between 1978 and 1987 and a comparison with data from the Rhône-Alpes/Auvergne registry in France. A strong maternal age dependency is seen, which parallels that observed for Down syndrome. The patterns of registered malformations in the two data sets are quite similar. A progressive increase of the prevalence at birth of trisomy 18 is seen in Sweden during the ten years but not in France. This increase seems to result, at least in part, from an increased identification of the trisomy among malformed infants. A parallel decrease in the reporting of infants with the "cardinal" trisomy 18 malformations is indicated.

Abnormalities, Multiple↗
PubMed1991

[Teratogenic risks of epilepsy and anticonvulsants].

This paper presents a review of the literature regarding the risks of birth defects in infants born of an epileptic mother or father. It appears that epileptic women on anticonvulsant drugs have a 2-3-fold greater risk of delivering a baby with a major malformation. The risk is more specific for facial clefts, congenital heart defects and spina bifida. The risk increase for mild anomalies, especially facial dysmorphology, is evaluated in a very variable manner (5-45%). The respective roles of the disease itself and its treatment are discussed; it seems likely that genes play a part in the general risk increase, but that maternal epilepsy plays a more important role than paternal epilepsy, and that therefore a non-genetic mechanism exists. One hypothesis could conciliate all theories (genes, seizures during pregnancy, teratogenic effect of drugs), ie that of the existence of genetically-determined differing susceptibility to drugs. Monotherapy seems to induce a lower risk than polytherapy, and is thus to be preferred if clinically possible. Because of minor differences in teratogenic effect between drugs (with the exception of a more specific association between sodium valproate and spina bifida), choice should be determined by the particular therapeutic necessities, with suitable surveillance of the pregnancy.

Abnormalities, Drug-Induced↗
PubMed1991

[Resources and subsidies of scientific nature of the Instituti di Ricovero e Cura by geographic areas: inequalities between Center-North and South].

The Authors assess investments and resources appropriated for research and technological innovation and highlight the imbalance existing between the areas of Central-Northern and Southern Italy. In particular, data relative to Comprehensive Health Care Institutes (IRCCS) fully confirm the diversity between the Central-North and the South; indeed, in terms of economic resources and personnel, totals in this latter region amount to 13.8% and 10.5% of national figures respectively. The role that IRCCSes might assume within the framework of an effective program of the re-qualification and development of scientific research and health care in Italy, especially in Southern areas, is thus confirmed.

Delivery of Health Care↗
PubMed1990

Experience of two teratology information services in Europe.

Teratology Information Services (TIS) are started in different countries in Europe in order to gather available data on exogenous agents, to evaluate their pertinence to human subjects, and to apply this knowledge to specific cases. Most European centers can only be consulted by medical professionals. The experience of two such services (Lyon, France, and Bilthoven, The Netherlands) is described. Attention is given to the task of TIS, risk evaluation, operational methods, and functioning and future developments.

Abnormalities, Drug-Induced↗
PubMed1990

[Scientific institutions for treatment and care: purpose, characteristics and specific role in the oncologic sector].

The qualities of Comprehensive Health Care Institutes facilities established to foster, carry out and coordinate activities of scientific research and assistance in the field of biomedicine are described. At present there are 23 centers, their activity being based on two fundamental features: 1) topical research in specific themes characterizing the role these Institutes continuously play; 2) specialized research concerning subjects of particular interest and/or urgency suggested by the Ministry of Health.

Academies and Institutes↗
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↗
PubMed1989

[Anti-nDNA antibodies in lupus erythematosus].

Using the ELISA technique we have tested anti-nDNA antibodies in 79 patients affected with Lupus Erythematosus. The same patients have previously been tested for anti-cardiolipin antibodies. According to the literature, cross inhibition ELISA tests show no cross reactions between these two auto-antibodies families. Patients with highest anti-nDNA antibodies show a production of polyclonal (IgG, IgM, IgA) antinuclear antibodies responsible for a homogeneous pattern detected by indirect immunofluorescence.

Adult↗
PubMed1989

[Renal agenesis and the Fraser syndrome: 4 observations].

The authors report on 4 cases of Fraser syndrome in 2 Turkish families. Both families are consanguinous. In 3 cases there is a bilateral renal agenesis, a feature which is not usually regarded as a main one. Actually the survey of the literature reveals that renal anomalies are not infrequent in this syndrome, even though the cryptophtalmos would be lacking. A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. Such an association leads to the diagnosis of Fraser Syndrome even when cryptophtalmos is absent, and requires to look for minor ENT or ophthalmic symptoms by a careful post mortem examination.

Abnormalities, Multiple↗
PubMed1988

[Registries of malformations in the Rhône-Alps/Auvergne region. Value and limits of monitoring teratogenesis. 11 years' experience (1976-1986)].

The authors describe a population-based birth defects registry, started in 1976. The system surveys about 85,000 births per year, occurring in 140 maternity units and representing more than ten per cent of all the births in France. Monitoring first covered the Rhône-Alpes region, then was extended to the Auvergne region in 1983 and to the Jura district in 1985. The method of investigation was "multi-source", because any doctor in the zone covered was in a position to notify a malformation to the registry. (497 obstetricians, pediatricians, pediatric surgeons, fetopathologists, geneticists and cytogeneticists). Malformations were coded with a specific terminal elaborated in the registry (1,600 items). The mothers' exposures to drugs during the first trimester of pregnancy were coded by trade names. The registry is a full member of the International Clearinghouse for Birth Defects Monitoring Systems, an international organisation now including in this group 25 regional or national birth defects registries and covering more than 3 million births per year. The 1986 results of monitoring birth defects in the described registry are given as examples. Within the eleven years (1976-86), 15,000 cases of malformations were registered, and two clusters have been detected and followed-up: femoral aplasia/hypoplasia in 1980-81 and oesophageal atresia in 1984. No cause was found for these "epidemics". The strong association between in utero exposure to valproic acid with spina bifida is the main result of the activities of the registry since its creation.

Abnormalities, Multiple↗
PubMed1988

[Atresia of the esophagus. Study of a cluster observed in 1984 in the Rhône-Alpes region].

The Rhône-Alpes Auvergne Register allows the monitoring of malformations, in 2 French regions. This monitoring led to the discovery of a cluster of cases of esophageal atresia of the isolated type during the year 1984. Analysis of this cluster showed that it was mainly due to a concentration of cases (7 observed vs 1.78 expected) born in the Ain department, 4 of them being born during the first trimester. Analysis of the cluster was followed by an individual questioning of families. It concerned essentially the environmental conditions of the onset of pregnancy and did not allow to set the hypothesis of a possible risk factor. The authors conclude that either the cluster should be attributed to chance, or the used questionnaire, even if directed towards all directions and seeming quite complete, was not sufficient to allow bringing out an hypothesis.

Abnormalities, Multiple↗
PubMed1987

Anticonvulsant drugs in monotherapy. Effect on the fetus.

We describe a material of 577 infants born of epileptic women treated with anticonvulsants in monotherapy during early pregnancy and collected from France, Italy, and Sweden. The incidence of major malformations is increased compared with the general population but no definite difference in risk can be demonstrated between the various anticonvulsants, but valproic acid was associated with a doubling of the average risk. The increased risk for facial clefts and for cardiac malformations, described from most studies on epilepsy during pregnancy, cannot be seen in this material. Unusually many cases of penis abnormalities (micropenis, hypospadias) were noted. An effect on fetal growth can be demonstrated and is apparently more pronounced for carbamazepine than for the other drugs. It results in a reduced birth weight in spite of normal gestational length, reduced body length and head circumference. The possible biological significance of this finding is discussed.

Abnormalities, Drug-Induced↗