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Biomedical subjects

S Odent

Publications and source records attributed to S Odent.

71 records · Page 4Linked to original sources
PubMed1989

[Indications for therapeutic interruption of pregnancy in Ille-et-Villaine from 1982 to 1986. Apropos of 222 cases].

The authors have made the census of all the Medical Terminations of Pregnancy (MTP) which have been carried out in the Department of Ille et Vilaine from 1982 to 1986, i.e. 222 cases, in order to precise the different indications and the diagnosis tools which were used. 132 MTP concern women who live in the Department of Ille et Vilaine. By referring this figure to the total number of pregnancies in this area, one can see that the average incidence is of 1.9%; MTP account for 1% of the total number of Terminations of Pregnancies. Foetal indications are more frequent (188 cases; i.e. 84.7%) than maternal ones (34 cases, 15.3%); these figures remained stable over the 5-year period of study. Chromosomal aberrations and closing defects of the neural tubule are the main causes of MTP (22.9% of foetal indications). Among the 43 chromosomal aberrations, trisomies are the most frequent ones (34.9%) because all women aged 38 or more are proposed a detection. The diagnosis of trisomy was made in 24 cases after tests were programmed either because of the age of the mother or because of family antecedents (amniocentesis: 22 times, punction of foetal blood: once, biopsy of chorion villosities: once), in 6 cases after tests were carried out on the basis of suspect clinical signs amniocentesis: once, punction of foetal blood: 5 times), and in 13 cases after the echography had revealed a major syndrome. Closing defects of the central nervous system mainly concern anencephaly (17.6% of foetal indications) since the echography enables an easy diagnosis. All anencephaly have actually been detected during the reference period of pregnancy.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1989

[Truncus arteriosus: an autosomal recessive disease?].

Truncus arteriosus is an uncommon heart malformation; it is not reported that recurrence is high; nevertheless authors report three families with two or more cases; in the third there is a very high consanguinity (two uncle-niece marriages). The authors compare the situation with hypoplastic left heart and think that some cases of truncus arteriosus would have an autosomal recessive inheritance. That is an another argument for suggesting an echocardiographic survey of the pregnancies in these families.

Consanguinity↗
PubMed1989

["Genetic emergencies" in a pediatric intensive care service].

Case histories from the pediatric reanimation department (intubated children of 0 to 15) and neonatology of Renne's hospital are reviewed for the years 1987 and 1988. Among 1.555 admissions (486 in reanimation, 1069 in neonatology), 63, that is 4%, concerned the clinical geneticist. The distribution may be done in 32 malformations and genetic syndromes, 8 chromosomal defects, 6 neuro-muscular diseases, 6 metabolic diseases, 3 cystic fibrosis, 3 spina bifida, 5 varied diseases. The advice of the genetic counsellor was requested 8 times for an urgent case, and to arrive at a decision about a reanimation, 7 times before the death of a patient for the management of diagnostic techniques: biopsy, blood or urines sent to a specialized center.

Emergency Service, Hospital↗
PubMed1989

[Argininosuccinic aciduria. A new case revealed by psychiatric disorders].

The case of a 4 years old boy, hospitalized for an unexplained coma, is reported. He is the first child of a non-consanguin couple. The psychomotor development of this child was considered as normal up to the age of 18 months; then, a delay in language development, behaviour disorders with an important instability interrupted by episodes of somnolence, were observed. This child was treated for psychotic disorders. At the age of 3 and half, he had two episodes of seizures associated with fever. He was hospitalized for a 24 hours coma (4 years old). An hepatomegaly and a dry, brittle hair were then observed. Hyperammonemia was made obvious by a protein tolerance test. The diagnosis of argininosuccinate lyase (ASAL) deficiency was based on the increased levels of ASA in plasma and urine. The deficiency was proved by a fibroblast culture. With protein restriction, hepatomegaly disappeared, hair became normal, the behaviour disorders and the delay in language development was improved. However, some school difficulties persist. This case shows that an hereditary metabolic syndrome can be revealed by psychotic like symptoms in childhood.

Amino Acid Metabolism, Inborn Errors↗
PubMed1989

[Autopsy in neonatal death].

Among 125 neonatal deaths which occurred between 1985 and 1987 in a neonatal intensive care unit, 90 autopsies (72%) were performed. Autopsies in 58 cases (64%) confirmed antemortem conclusions. In 26 cases (28%) post-mortem examination rectified antemortem findings whereas in 6 cases (6.6%) it did not contribute to a better understanding of the cause of death. When there was a risk of an heritable disease and genetic counselling was necessary (31 cases), the autopsy permitted to provide the diagnosis in 4 cases and to reassure the family in 17. In 23 cases the post-mortem examination had to be completed by perimortem studies to be contributive. As no antemortem data allowed to predict the value of the autopsy, a postmortem study should by systematically requested in cases of death during the neonatal period.

Autopsy↗
PubMed1988

[Hyperosmolar coma in a premature newborn infant: iatrogenic complication of parenteral feeding].

The authors report the case of a 34-week preterm newborn weighing 1,545 g receiving a parenteral mixture by a central venous catheter. A mistake in the flow-rate program led to the infusion of 200 ml within 2 h. Coma occurred quickly and the patient showed intracellular dehydration, polyuria, metabolic acidosis, hyperglycemia and hyponatremia. The therapeutic aim was the correction of dehydration and acidosis, as well as the prevention of secondary hypoglycemia. Clinic and biologic symptoms disappeared 6 h later Volumetric infusion pumps need permanent safe and accurate control of volume flow-rate.

Diabetic Coma↗
PubMedDate not supplied

[Genetic study of holoprosencephaly].

Holoprosencephaly (1/16,000 live births; 1/250 conceptuses) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, affecting both the forebrain and the face. Clinical expressivity is variable, ranging from a single cerebral ventricule and cyclopia to clinically unaffected carriers in familial dominant autosomic holoprosencephaly. The disease is genetically heterogeneous but additional environmental agents also contribute to the aetiology of holoprosencephaly. In our cohort of 143 patients, 28 heterozygous mutations were identified: 15 in the Sonic hedgehog gene (SHH), 6 in ZIC2, 5 in SIX3, and 2 in TGIF. Functional tests have been set up to validate the significance of SHH amino acids replacements. Novel phenotypes associated with a mutation have been described such as abnormalities of the pituitary gland and corpus callosum, colobomatous microphthalmia, choanal aperture stenosis and isolated cleft lip. This study confirms the great genetic heterogeneity of the disease, the important phenotypic variability in holoprosencephalic families, and the absence of evident genotype-phenotype correlations.

Cohort Studies↗
PubMedDate not supplied

[Therapeutic termination of pregnancy. Diagnosis and protocols. 54 cases].

The authors present 54 cases histories of therapeutic terminations of pregnancy. The mean age of the patients was 28.6 years at the time of diagnosis with the following in indications for the antenatal diagnosis in order of decreasing frequency: clinical history, age of the mother, seropositive for toxoplasmosis or rubella, a high fetal alpha protein level and ultrasound signs. They highlight the usefulness of ultrasound in reaching a decision as to whether pregnancy should be terminated (as it was in 25 cases out of 49) and the predominance of diagnoses of karyotype abnormalities. They also compare the various prostaglandin s used in this study (analogs of PGE1 and PGE2, diniprost). Their results, in accordance with the literature were good for gemeprost and sulprostone with expulsion in 29 out of 32 cases within 24 hours and in 9 cases out of 11 within 20 hours respectively.

Abortifacient Agents, Nonsteroidal↗