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Biomedical subjects

M Schweitzer

Publications and source records attributed to M Schweitzer.

At least 55 records · Page 3Linked to original sources

[Dilatation of the cerebral ventricles diagnosed in utero. 85 case reports].

This study concerns a retrospective analysis of 85 case histories of pre-natal dilatations of the ventricles considered by a multi-disciplinary group whose aim it was to try and identify the most favourable features for prognosis that could be found in the whole of this pathological condition. The prognosis for ventricular dilatations found in utero is very poor. Only 36 of the 85 children were born alive. 16 of those died before they were two months old and of the survivors only 4 children developed normally. The least unfavourable elements that were found seem to be solitary areas of dilatation or the association of the dilatation with agenesis of the corpus callosum, late diagnosis, slow evolution and a ventricular-hemisphere ratio no more than 50% of the normal value. Early diagnosis should improve the methods of treating these patients. In order to achieve this, an ultrasound of the skull should be carried out in the fourth month and in the 26th week of pregnancy. Precise diagnosis must be made. A attempt should be made to work out the aetiology as completely as possible as well as to watch carefully how the condition is evolving. When death has occurred, the assessment should be compared with the autopsy results. Finally, the knowledge about the outcome of all these children should make it possible to criticize the decisions that have been taken for management.

Female↗

Androgen receptor defects in patients with minimal and partial androgen resistance classified according to a model of androgen-receptor complex energy states.

We have characterized intracellularly the androgen-receptor (A-R) complexes formed by genital skin fibroblasts from 2 unrelated males with qualitative defects of the androgen receptor: one has a small nonhypospadic penis as part of a syndrome of mild androgen resistance; the other was born with ambiguous external genitalia. The dissociation rate constants of testosterone, methyltrienolone (MT), dihydrotestosterone (DHT) and mibolerone (MB) from normal androgen receptors were determined at various temperatures: when plotted by the method of Arrhenius, they yielded a linear hierarchy of dissociation states with energies of state IV greater than III greater than II greater than I, respectively. Relative to this hierarchy, patient A-R complexes were displaced to higher, androgen-inappropriate energies in a mutant-distinctive pattern. MB- or MT-R complexes of both patients were thermolabile; however, both up-regulated normally in response to prolonged incubation with either hormone. Apparent equilibrium affinity constants (Kd) of the DHT- and MB-R complexes formed by both patients were normal; however, the binding capacity (Bmax) for MB in 1 case was subnormal. The distinctive biochemical phenotypes of A-R complexes in these 2 patients with androgen resistance will facilitate the definition of structure-function relations in the androgen receptor, a classical DNA-binding, transcription-regulating protein.

Adolescent↗

[Congenital malformations and socio-occupational status].

A case-control study was conducted in a maternity hospital, in order to look for the relationships between the occurrence of birthdefects and the socio-occupational status of the parents. Cases were 189 new-born children with one or several congenital malformations diagnosed at birth or within the first 8 days of the life. Birthdefects were listed according to the British Paediatric Association classification of diseases. Controls were 5,896 new-born children without any congenital malformation detected within the first 8 days of life. Cases and controls were all children born in the same maternity hospital, between 1980 and 1983. The socio-occupational status (INSEE classification) of the parents of cases and controls was ascertained within the first trimester of the pregnancy, before a possible congenital malformation was known. In order to look for the relationships between the socio-occupational status of the parents and the occurrence of birthdefects, we compared the proportions, in each of the socio-occupational classes, of the fathers and of the mothers of cases and controls. These comparisons (for all birthdefects together and for the most frequent ones) were tested using the chi-square test, when the expected number was greater than 5, and the Fischer's test, when it was equal to, or lower than 5. The incidence rate of birthdefects in this sample was 3,1%. Their distribution according to the types of malformations did not differ from that observed in 1982 among the new-borns in Paris. There was no significant difference between the parents of cases and controls, for: age, degree of instruction, ethnic origin, marital status.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Factors↗

[Rotation angioplasty--initial clinical results of peripheral vascular occlusions].

After experimental investigations in postmortem human arteries, 19 patients with chronic peripheral artery occlusions were treated with a new technique between December 1986 and October 1987. In 17 patients the superficial femoral artery, and in two patients the popliteal artery, was completely occluded. The length of occlusions were between 5 and 25 cm (mean 10.9 cm); the duration (estimated according to patient's history) was 5-48 months (mean 17.2 months). In five patients, durations of up to 30 months had been documented by angiography. A flexible, blunt, motor-driven rotating catheter was introduced over an 8 or 9 F sheet and rotational angioplasty was performed at low speed, up to 200 rpm. In 11/14 patients in whom this new technique was used as the first attempt, the occlusions could be successfully reopened. In two patients after failure of the conventional technique the rotating catheter could not bypass the preexisting dissections in the same intervention. In 2/3 further patients after failure of the conventional technique the occlusions could be successfully reopened in a second intervention after several weeks. In none of our 19 patients did a perforation occur. It is concluded that by using the new technique, chronic peripheral artery occlusions can be reopened with a high success rate and without the danger of vessel wall perforation. The method can also be applied in patients in whom conventional techniques have failed.

Adult↗

[The wish for a baby and pregnancy in adolescence].

During the Summer of 1987, interviews were carried out with 33 pregnant adolescents followed at the Nancy regional maternity hospital, in order to improve the knowledge of the present determinants of pregnancy in teens. These adolescents were mostly French, born in unfavourable classes; virtually all had school failure and no professional qualification. In one third of them, pregnancy was accidental and could appear as a further social handicap for these isolated and unemployed adolescents. However, two thirds of these future mothers declared that they had desired their pregnancy, most often within a steady and gratifying couple relationship.

Adolescent↗

[Rotation angioplasty--a new procedure for reopening and dilating blood vessels. Experimental findings].

16 fresh postmortem specimens of human femoral and popliteal arteries with severe atherosclerosis were removed and angiography was performed. Eight vessels were completely occluded and eight showed stenoses of up to 60%. All occluded vessels were heavily calcified. The duration of occlusion, estimated according to the patient's history, ranged from 1 to 2 years. In one case, a duration of 18 months was documented by angiography. The lengths of the occlusions were between 5 and 12 cm. A rotating catheter was introduced through a 9F guiding catheter. All stenosed vessels were passed and seven out of eight occluded vessels, in which passage was not possible using conventional wires, were successfully reopened at low speed rotation of 200 rpm. Angiography, as well as histology, showed no perforation, and angioscopy revealed a smooth surface of the new channel. In three vessels this new channel was dilated with a balloon catheter and in one with an elastic element under rotation. It is concluded that with the new technique it is possible to reopen totally occluded human arteries which cannot be passed by conventional methods.

Angioplasty, Balloon↗

[Mosaic tetrasomy 12p. Identical nature of the Pallister syndrome, the Teschler-Nicola/Killian syndrome and mosaic tetrasomy 21].

In two cases, first interpreted as mosaic tetrasomy 21, the R banding and the gene dosage studies lead us to conclude to a mosaic tetrasomy 12 p. In Pallister mosaic syndrome and in Teschler-Nicola/Killian syndrome, the very similar clinical signs and the identical abnormal chromosome, missing in leucocytes, led us to conclude that Pallister and Teschler-Nicola/Killian syndrome, as well as mosaic tetrasomy 21 are one and the same syndrome tetrasomy 12 p. This tissue limited mosaic is probably more frequent than it is assumed. Prenatal diagnosis can be made since the supernumerary chromosome is found in amniocytes. The distinctive tissue distribution is probably a selective process due to cellular differentiation gene, CD9 (or Alb 6) located to 12 p.

Aneuploidy↗

Mosaic tetrasomy 12p.

Mosaic tetrasomy 12p is a dysmorphic syndrome which has been described under the name of Pallister mosaic syndrome and Teschler-Nicola/Killian syndrome and has sometimes been incorrectly interpreted as tetrasomy 21. Here we report the first case to be diagnosed prenatally and confirmed by enzyme assays, and we summarize the clinical and biological characteristics of all the cases reported so far under various names.

Abnormalities, Multiple↗

[Prenatal diagnosis of triploidy. I. Echographic, clinical and anatomic studies].

Three cases of triploidy have been diagnosed prenatally on ultrasonography and clinical features. A morphological and histological study of both foetus and placenta is made. The cases and a review of live-born triploid infants published in the literature allow a description of some characteristic malformations. Possibilities of triploïd pregnancy recognition are discussed.

Adult↗

The nutritional regulation of T lymphocyte function.

Prostaglandin (PG) E1 plays a major role in the regulation of thymus development and T lymphocyte function and the evidence for this is reviewed. The production of PGE1 is dependent on nutritional factors with linoleic acid, gamma-linolenic acid, pyridoxine, zinc and vitamin C playing key roles. Inadequate intake of any one of these will lead to inadequate PGE1 formation and defective T lymphocyte function. Megadoses of any one are likely to be only minimally effective in the absence of adequate intakes of the others. By careful attention to diet it should be possible to activate T lymphocyte function in the large number of diseases including rheumatoid arthritis, various auto-immune diseases, multiple sclerosis, and cancer in which such function is defective. It is possible that T lymphocytes may require both endogenous and exogenous PGE1 in order to function adequately. It is therefore of particular interest that many cancer cells and virally infected cells are unable to make PGE1 because they cannot convert linoleic acid to gamma-linolenic acid. The direct provision of gamma-linolenic or dihomo-gammalinolenic acids in these situations is worthy of full investigation.

Animals↗

[Epilepsy, anticonvulsants and pregnancy].

A statistical study, using a computer, of 343 epileptic women with 775 pregnancies led to the following conclusions: 1. The influence of pregnancy on epilepsy is very variable: null once out of 2 times, pregnancy is more often favourable than unfavourable in the remaining 50% of the cases. 2. The influence of epilepsy on pregnancy seems to be null with regard to the course of pregnancy, its termination and the post-delivery period. The perinatal mortality rate is, however, higher. 3. Concerning the very present question of the teratogenic risk due to anticonvulsants, it appears that an epileptic woman has a slightly higher risk to bear a child with a congenital defect than does a non-epileptic mother; 4.04% of malformations in treated epileptic women, 2.32% in non-treated; 2.2% and 1.8% in two control groups.

Abnormalities, Drug-Induced↗

[Consumption coagulopathies and severe postpartum hemorrhage].

15 patients were referred to the Intensive Care Unit immediately after delivery for severe post-partum haemorrhage. In 7 cases complications followed retroplacental haemotoma formation and in the other 8 cases they were due to secondary haemorrhages from the placental site and/or from tears of the cervix or vagina. It is a clinical picture that is associated with a state of shock, with continuing massive bleeding associated with failure of the blood to clot and which persists and becomes worse with the transfusion of stored blood and of the coagulation factors. In all these cases severe coagulation pathology due to consumption defects is revealed. We must point out that tears of the cervix and vagina which have been neglected and failure to compensate for the original blood loss are among the aetiological factors. Treatment with Heparin giving a dose of 1 to 3 mg per kg of body weight per 24 hours and controlled by a strict biological check together with symptomatic resuscitation from the state of shock and from the coagulation factors is successful (9 cases) if it is undertaken early on. A fatal outcome, whether it is due to a persistent state of shock (1 case) or to visceral complications of diffuse intravascular coagulation (C.I.V.D.) (5 cases) can be found where treatment is delayed and when insufficient blood is replaced and when antifibrinolytics are prescribed. A preventive therapeutic plan as well as a curative one can be drawn up for these cases of obstetrical drama.

Adult↗