Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene*

OBJECTIVE Partial androgen Insensitivity syndromes are the cause of genital ambiguity that is at times quite severe; there is, therefore, a high demand for prenatal diagnosis in families already afflicted with this syndrome. When the mutation has not been identified, the diagnosis can be made by the study of the polymorphisms of the androgen receptor gene. To perform molecular prenatal diagnosis in a family with partial androgen insensitivity syndrome, we studied the Hind III polymorphism of the androgen receptor gene on the trophoblastic DNA. The use of this restriction fragment length polymorphism tracked maternal X chromosome segregation and established prenatal diagnosis although the mutation had not yet been identified in this family. FAMILY The mother had been previously described as heterozygous for the Hind III polymorphism and chromosomal segregation analysis showed that the affected allele was associated with the 6.7-kb Hind III fragment. MEASUREMENTS Hind III RFLP with an androgen receptor gene cDNA probe was realized on the trophoblastic DNA, along with measurement of androgen binding activity on the trophoblastic cells. RESULTS We detected the presence of the 6.7-kb fragment In the DNA of the trophoblastic cells suggesting the fetus was affected. Partial androgen insensitivity syndrome was confirmed by a considerable decrease in androgen binding activity on the trophoblastic cells and by sonography of the fetus. After a therapeutic abortion requested by the parents, the diagnosis was confirmed by clinical examination of the fetus, biochemical analyses of the fetal androgen receptor, and molecular studies of the fetal DNA. CONCLUSIONS When the mutation of the androgen receptor gene has not been identified, Hind III polymorphism of the trophoblastic DNA is useful in the prenatal diagnosis of androgen insensitivity syndrome in high-risk families.     

Does carotid eversion endarterectomy and reimplantation reduce the risk of restenosis?

Two hundred twelve eversion endarterectomies of the internal carotid artery and reimplantation in the common carotid artery were performed between January 1985 and July 1990. A total of 206 patients with stenosis of 75% or more and with redundancy and tortuosity of the internal carotid artery underwent this procedure. Cumulative mortality and neurologic morbidity were 2.4%. Forty patients died during the course of follow-up, seven of neurologic causes (17.1%). Duplex scans of 107 operated carotid arteries were obtained an average of 27.1 months after surgery. Restenosis of >50% was encountered in three patients (1.9%), two asymptomatic patients (1.3%) with >75% restenosis and one symptomatic patient with occlusion (0.6%). These results contrast with a 13.5% rate of restenosis >50% (including 5.9% of restenoses >75% and 1.7% occlusions) observed after 156 consecutive endarterectomies performed and closed by direct suture by the same surgical team in 1987 at a mean follow-up of 44 months. We believe that this technique can be used more often because the operative and long-term risks are not any greater than those of the other methods of carotid revascularization. Eversion endarterectomy associated with reimplantation is especially indicated when the internal carotid artery is elongated, is <4 mm wide, and occurs in women.Presented at the Annual Meeting of the Société de Chirurgie Vasculaire de Langue Française, Marseille, France, June 21–22, 1991.     

Immunopharmacological profile of SR 31747: In vitro and in vivo studies on humoral and cellular responses

In our preceding paper, we demonstrated that both human and rat lymphocytes possess saturable high-affinity binding sites for the new sigma ligand SR 31747. Here we investigate the potential activity of this ligand on immune responses. In vitro, our study shows that SR 31747 exerts a concentration- and time-dependent inhibition of proliferative response to mitogens on mouse and human lymphocytes without affecting cell viability. This suppressive effect elicited by SR 31747 occurs over a concentration range which correlates with the pharmacological profile of the molecule in binding assays, strongly suggesting that SR 31747 acts through a receptor-mediated process. We showed that the SR 31747 effect, which was observed on purified T lymphocytes, affects a late event in the activation process which occurs after the G1 during the S phase of the cell cycle. Interestingly, no anti-proliferative effect was observed in a variety of tumor cell lines, supporting a specific effect limited to normal immune cells. In vivo, in mice, treatment with SR 31747 prevented both graft-versus-host disease and delayed-type hypersensitivity granuloma formation, while antibody response to sheep red blood cells was not affected. These results strongly suggest that the sigma-related receptor recognized by SR 31747 is very likely coupled to a biological function of lymphocytes.     

Immediate and late mandibular fractures after third molar removal.

PURPOSE: In this retrospective study, we analyzed immediate and late mandibular fractures after impacted lower third molar surgery. PATIENTS AND METHODS: One hundred fifty oral and maxillofacial surgeons in the north of- France were questioned about their experience with intraoperative and late mandibular fracture after third molar surgery. Cases were examined clinically and radiographically. RESULTS: Thirty-seven fractures were reported in about 750,000 extractions (incidence of 0.0049%). Only 27 cases could be precisely described: 17 intraoperative and 10 late fractures. The patients were 19 to 75 years of age, with an average age of 37 years for intraoperative fractures and 47 years for late fractures. All grades of tooth impaction were included. Only 2 patients did not have full dentition. CONCLUSIONS: The major incidence of immediate and late mandible fractures occurs in patients older than over 25 years. Men may be more likely to have late fractures (8 of 10 cases).     

Degeneration of noradrenergic and serotonergic but not dopaminergic neurones in the lumbar spinal cord of parkinsonian patients

To investigate the possible alterations of spinal cord monoaminergic pathways in Parkinson's disease, the levels of dopamine, homovanillic acid, noradrenaline, serotonin and 5-hydroxyindoleacetic acid have been measured in different subregions of the lumbar spinal cord in control subjects and parkinsonian patients. Substantial amounts of these compounds were found in the dorsal, intermediate and ventral grey matter portions and in the white matter of the spinal cord; the levels of serotonin and its metabolite being the highest. In parkinsonian patients, lumbar spinal cord dopamine and homovanillic acid levels were similar to those in the control subjects, whereas the concentrations of noradrenaline, serotonin and its metabolites were clearly subnormal in the different parts of the cord, the depletion of noradrenaline being the most pronounced. These data suggest that lumbar spinal cord noradrenergic and serotonergic, but not dopaminergic, systems are damaged in Parkinson's disease.     

La mesure du métabolisme de base reste fondamentale pour établir les apports énergétiques conseillés aux patients obèses

Three methods for evaluating the resting metabolic rate (RMR) in obese patients have been compared with the reference technique measurement: indirect calorimetry. The methods were the calculation of RMR by Harris and Benedict's and Black's formulas, and by bioelectrical impedance analysis (BIA). In the same patients, the level of recommended energetic intakes obtained from the dietetic evaluation was compared with the ideal level given by the calorimetric RMR. Bioelectrical impedance analysis and Harris and Benedict's formulas gave mean results non significantly different from indirect calorimetry, but with a high risk of dispersion, and they were consequently unusable in daily practice. Black's formulas significantly underestimated RMR. The dietetic evaluation proposed a too high level of energetic intakes, with a risk for the patients of inefficiency. The calorimetric RMR measurement is still a base for obtaining the level of energetic intakes recommended to obese patients.     

Double quantization of the regressor space for long-term time series prediction: method and proof of stability.

The Kohonen self-organization map is usually considered as a classification or clustering tool, with only a few applications in time series prediction. In this paper, a particular time series forecasting method based on Kohonen maps is described. This method has been specifically designed for the prediction of long-term trends. The proof of the stability of the method for long-term forecasting is given, as well as illustrations of the utilization of the method both in the scalar and vectorial cases.