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Biomedical subjects

Y Dumez

Publications and source records attributed to Y Dumez.

At least 127 records · Page 7Linked to original sources
PubMed1985

Molecular forms and solubility of acetylcholinesterase during the embryonic development of rat and human brain.

Acetylcholinesterase (EC 3.1.1.7) and butyrylcholinesterase (EC 3.1.1.8) form homologous sets of multiple molecular forms. The central nervous system of mammals contains mostly tetramers (G4) and monomers (G1). Their proportions have been shown to vary during maturation in rat brain. In order to examine whether a similar evolution occurs in the human, we performed parallel studies of the activity, solubility and molecular forms of acetylcholinesterase in rat and human brains at various stages. We find both similarities and differences: in rat brain, the enzyme increases mostly postnatally but in human brain acetylcholinesterase reaches a maximum at birth. There is an increase in the proportion of G4 and a decrease in the solubility of this from in the absence of detergent in human as well as in rat brain. These changes occur around birth in rat, but during early pregnancy, before 11 weeks in human brain. In both species, the solubility of the enzyme in detergent-free buffers decreases progressively from more than 50% before birth to about 10-20% in the adult. In addition we analyzed butyrylcholinesterase as well as the levels of the neuron-specific enolase and of the glial S-100 protein. In human, gamma gamma-enolase rises to its adult level after birth, but before the S-100 protein.

Acetylcholinesterase↗
PubMed1985

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe.

A first trimester prenatal diagnosis of adrenoleukodystrophy has been done on chorionic villi biopsy in the pregnancy of a carrier woman. Two different approaches allowed one to determine that the male fetus was affected: the linkage analysis of DNA from chorionic villi using the highly polymorphic probe St 14 and the determination of very long chain fatty acid levels in cultured chorionic villi.

Adrenoleukodystrophy↗
PubMed1985

Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy.

Glycogenosis type II (Pompe's disease) has been diagnosed using cultured amniotic cells for several years. In this paper, we present three prenatal diagnoses based on chorionic villi biopsy in three families at risk for Pompe's disease juvenile form: a normal fetus that was diagnosed and confirmed by enzymatic assay on amniotic cells; two affected fetuses that were diagnosed and confirmed on post-abortion fetal tissues. In one case a residual acid alpha-glucosidase activity was found; we concluded that the residual activity was due to maternal contamination. Prenatal diagnosis of Pompe's disease is therefore possible using chorionic villi biopsy.

Biopsy↗
PubMed1985

Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development.

First-trimester prenatal diagnosis of Niemann-Pick disease type B was successfully achieved by sphingomyelinase assay on chorionic villi, performed directly and after 3 weeks' culture. Cultured chorionic cells were normally found to exhibit sphingomyelinase activities 3 times higher than seen in the solid biopsy, and showed a lower residual activity in the affected foetus. Their study may thus prove helpful in dubious cases. Enzyme activities and lipid patterns were studied in several organs of the aborted foetus. Lysosomal sphingomyelinase was deficient in all tissues. The lipid pattern of the brain was normal for the age, but a 4-fold sphingomyelin storage had already taken place in the liver (2.5-fold in the spleen) of this 12-gestational week foetus.

Acetylglucosaminidase↗
PubMed1985

[Prenatal diagnosis of limb and digital abnormalities. Evaluation of the activity of the Port Royal University Clinic from 1979 to 1983. Apropos of 30 cases].

Since 1979, thanks to high level ultrasonography systematic ultrasonic examinations between the 18th and the 22nd week of pregnancy have permitted to prediagnose limb and extremity abnormalities. Embryoscopy and foetoscopy can be used as additional techniques. This paper reports the activity results of the Port Royal Maternity hospital, between 1979 and 1983. In this hospital's Prenatal diagnosis Center, ultrasonographists, obstetricians, geneticists, surgeons, pediatricians and foetopathologists work together fruitfully. 16 limb abnormalities and 14 extremity abnormalities were detected there. We describe the circumstances of their detection, the diagnostic methods used, and the obstetrical attitude chosen.

Female↗
PubMed1985

[Exclusion prenatal diagnosis of chronic familial septic granulomatosis].

We report the prenatal diagnosis in a 20 week male fetus at risk of chronic granulomatous disease (CGD). A previous affected brother was known in the family and the mother was detected as heterozygote. Three different assays were performed on fetal blood obtained under fetoscopy: cytochemical reduction of nitroblue tetrazolium (NBT), chemiluminescence after activation by opsonized zymosan or phorbol myristate acetate (PMA) and production of superoxide anion (O2-.). Results were comparable to those obtained in 6 fetuses investigated for other inherited diseases. Absence of functional polymorphonuclear defects was confirmed at birth. The use of 3 different techniques performed on whole blood for prenatal diagnosis of CGD has to be recommended instead of an isolated technique adapted to whole blood tests.

Female↗
PubMed1985

[Prenatal diagnosis of severe hereditary immunologic deficiencies].

The recent progress in antenatal diagnosis methods led us to develop the antenatal diagnosis of several forms of hereditary and severe immune deficiencies (ID): severe combined ID (13 cases), combined ID associated with a defective expression of HLA (2 cases), X-linked agammaglobulinemia (4 cases), chronic granulomatous disease (1 case). Antenatal diagnosis was performed by studying by micromethods lymphocyte markers and functions in fetal venous blood samples obtained under foetoscopy (20 cases) or echography (1 case). Cytological studies were coupled with microscopical examination of the skin and the hair of a foetus at risk for a Chediak-Higashi disease. These methods allowed the continuation of the pregnancy in 16 cases. Thirteen neonates were normal and two pregnancies go on. In one case, the diagnosis of the integrity of the immune system led to the birth of a child suffering from a severe combined ID not yet described. This child was cured with a HLA semi-identical bone-marrow transplantation. An abortion was proposed for two fetuses affected with severe combined ID which was confirmed by histological examination. Two accidental abortions occurred, one of them probably as a consequence of the fetoscopy.

Female↗
PubMed1984

Rapid and early determination of sex using trophoblast biopsy specimens and Y chromosome specific DNA probes.

The feasibility of determining sex by analysing deoxyribonucleic acid (DNA) with two probes specific for Y chromosomes was shown using DNA obtained from samples of blood from 30 non-related males and females of different ethnic origin. The DNA was spotted on nitrocellulose filters and hybridised with both a repetitive (P1) and a unique (49f) sequence specific for the human Y chromosome. A strong positive signal with both probes indicated the presence of male DNA. The sex of 12 fetuses was then similarly determined by molecular characterisation of DNA from trophoblast biopsy specimens. Chorionic samples were obtained in seven cases before termination of pregnancy in the first trimester and the aborted embryos subjected to karyotyping and sex chromatin analysis. In the five other cases samples were obtained from placentas obtained during caesarean section. Results of hybridisation were compared with those from cytogenic studies and actual sex at birth. The sex of all 12 fetuses was determined correctly by hybridisation.

Chorionic Villi↗
PubMed1984

First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy.

We investigated the possibility of mucolipidosis type II (ML II) prenatal diagnosis by lysosomal enzyme determination on trophoblast biopsy obtained at 10 weeks of gestation in two pregnancies at risk. Diagnosis of ML II was made in both cases on fresh chorionic villi on the basis of depressed beta-galactosidase activity, and after abortion, the diagnosis was confirmed on fresh fetal tissues and on cells cultured from trophoblast and fetuses. We stress the importance of culturing cells from the trophoblast biopsy to ensure a reliable diagnosis.

Biopsy, Needle↗
PubMed1984

[Biopsy of chorionic villi by forceps under ultrasonic control: technic and results].

We describe an original technique for villi sampling using a rigid forceps under ultrasound control. 120 chorion biopsies were performed, the success rate of sampling is 100%, the samples are pure without any maternal contamination in 90% of cases. The fetal loss rate needs further evaluation because the number of continuing pregnancies is still too small to allow enough accurate assessment. No miscarriage was observed among our last 70 patients. At the beginning of our experience we preferred to start our diagnoses only for high genetic risk diseases: haemoglobinopathies, hereditary metabolic diseases, lethal X-linked diseases. We insist on the efficiency and the quickness of this method and on the quality of the samples which makes the diagnosis safer.

Biopsy↗
PubMed1984

[A new prostaglandin E1 analog in late interruption of pregnancy, in utero deaths and very premature ruptures of the membranes. Apropos of 117 cases].

The authors have used suppositories containing 1 mg of an analogue of PGE1 in 117 cases. The indication was fetal abnormality or fetal disease in 85 cases, fetal death in utero in 24 cases and very premature rupture of the membranes in 8 cases. The pessaries have a number of advantages over the techniques that were employed previously; intra-amniotic injection and intra-cervical perfusion of PGF2. The method is very efficacious: 98.3% successes. There was no failure in the series of intra-uterine fetal deaths. Placing the pessaries in the posterior vaginal fornix is easy and the technique does not consist of any manipulation. Not having to put any laminary tents in and no early rupture of the membranes has made it possible to avoid infection except in 1.7% of cases. The incidence of heavy bleeding was exceptionally low: 0.8%. As far as the dangers of rupture of the uterus or of tears in the cervix, this was minimal. Picking cases for correct indications, using doses adapted to each patient and careful observation by a team who are used to dealing with terminations of pregnancy and their techniques should lower the risk. The time spent in hospital is lessened: on an average 3 days. The fetus that is expelled is never macerated, which is important in order to be able to find out all the facts necessary to give good genetic counselling to a couple who have been profoundly traumatised.(ABSTRACT TRUNCATED AT 250 WORDS)

Abortion, Induced↗
PubMed1984

[Antenatal ultrasonic diagnosis of nephro-urologic malformations].

The authors expose their results in the field of prenatal diagnosis of renal and urinary tract malformations. They describe normal and abnormal ultrasonographic aspects of kidneys, ureters and bladder with special reference to prognosis and therapeutic decisions.

Abnormalities, Multiple↗