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Biomedical subjects

E Robert

Publications and source records attributed to E Robert.

At least 109 records · Page 6Linked to original sources

[Can zinc deficiency in the mother be responsible for the occurrence of spina bifida aperta in the fetus?].

The occurrence in the fetus of closure defects of the neural tube and especially spina bifida aperta (SBA) has been related, by some authors, to nutritional deficiencies of the mother, in addition to well-known genetic factors: a folic acid deficiency and more recently a zinc deficiency have been evoked. The retrospective study of 23 couples mother/newborn selected from the presence of a SBA in the child, and 14 reference couples, shows that the mothers of children with SBA have a zinc blood level lower than that of the reference group; this result is confirmed by the alkaline phosphatases and zinc enzymes which are markedly decreased. Measurement of the incorporation of radioactive zinc in the skin fibroblasts shows, in case of SBA, in the mother, an increased incorporation rate, and in the newborn a decrease of that rate in relation to the reference group. We believe that the results of our study which confirm those from other authors, demonstrate that the administration of zinc during pregnancy is at least as important as the administration of folic acid to prevent recurrence of neurulation abnormalities.

Alkaline Phosphatase↗

Evaluation of drug therapy and teratogenic risk in a Rhône-Alpes district population of pregnant epileptic women.

The authors describe a sample of 148 pregnancies in identified epileptic women from 2 distinct sources: questionnaires sent to a group of women, 15-45 years old, having had an EEG between 1976 and 1983, and a computerized registry involving all pregnancies occurring in 3 maternity wards in Lyon between 1979 and 1983. The analysis of drug therapy during early pregnancy showed that the most common regimen was monotherapy. Either in mono- or in polytherapies, phenobarbitone was the drug used most often, the second being valproic acid (67 and 25% of monotherapies, respectively). The epileptic mothers were younger than the controls, and had had fewer pregnancies. Sex and birthweight distribution did not differ from those of the controls. Twenty-six malformed infants (17.7%) were registered. Among them, 18 (70%) had minor defects only. No major malformation was observed in the 'no drug' group, 6.7 and 7.7% of major malformations were observed in the monotherapy and polytherapy groups, respectively.

Abnormalities, Drug-Induced↗

Erroneous synthesis of ribosomal proteins in amino acid starved E. coli.

The effect of amino acid starvation on the accuracy of translation of ribosomal proteins was analyzed in a stringent (relA+)/relaxed (relA) pair of E. coli strains. The degree of misreading was estimated from the amount of cysteine erroneously incorporated into individual proteins during arginine starvation of bacteria. Illegitimate incorporation of cysteine was found to occur to a significant extent in several proteins from both the small and the large subunits of ribosomes, in either type of strain.

Amino Acids↗

[Incidence of malformations of the urinary tract in the Rhône-Alps area. Apropos 1357 cases of affected infants identified over a 7-year period (1976-1982)].

The authors use a regional birth defect registry computerized since 1976 January 1st. They describe the incidence of urinary tract defects, excluding renal dysplasias. Their classification shares this group of malformations in 3 parts: those included in a multiple defects association, identified or not, those associated with renal defects, and the isolated urinary tract defects.

Abnormalities, Multiple↗

[119 cases of spina bifida treated surgically. Results of genetic investigations and genetic counseling].

After the surgical treatment of 119 cases of spina bifida, the authors present their experience of the genetic approach of the subject. From 1976 to 1978, a resolution not directing attitude towards the parents of the affected children has resulted in a total failure to recognize the recurrence risk, and in an absence of special care for the next pregnancies. The consequence has been recurrence cases of spina bifida in 4 families. Since 1979, a genetic inquiry has been systematically carried out, and all the parents have had a genetic counselling. This permitted the birth of 25 normal infants. In one case, the prenatal diagnosis revealed a fetal meningomyelocele, and motived a therapeutical abortion. Nowadays the fiability of the prenatal diagnosis and the possibility of a prevention through periconceptional vitamin supplementation are strong arguments to give a genetic counselling to all the parents of children with spina bifida.

Acetylcholinesterase↗

[Is valproic acid teratogenic?].

In more than 7 000 cases of neonatal malformations processed up to 1982 in a regional computer register 71 infants had been born from epileptic mothers. A significantly higher than expected number of spina bifida aperta were observed in this group, related to the administration to the mother of the anti-epileptic agent valproic acid. A pathogenic hypothesis and a possible preventive procedure for this type of malformation are discussed.

Abnormalities, Drug-Induced↗

A local outbreak of femoral hypoplasia or aplasia and femoral fibula-ulnar-complex.

The authors describe an outbreak of femoral hypoplasia or aplasia, isolated or associated with fibular or/and ulnar anomalies (Proximal femoral focal deficiency or FFU Complex). The epidemic seems to be limited in place (Rhone-Alpes region in France), and in time (starting late 1979 or early 1980 and apparently maintained during 1981 with an excess of winter-born patients). All the cases are sporadic and clinically strictly unilateral. An hereditary factor does not seem to play a role. No iatrogenic agent, no radiation exposure, no infectious diseases can be incriminated. The hypothesis of a responsible chemical teratogenic product suddenly introduced in the Rhone-Alpes region in 1979 is arising. The difficult inquiry is going on with finer analysis. This aggregation of unusual malformations is a typical example of what can be found at monitoring of birth defects.

Female↗