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Biomedical subjects

L Poenaru

Publications and source records attributed to L Poenaru.

At least 91 records · Page 5Linked to original sources
PubMed1976

Prenatal diagnosis of fucosidosis.

A pregnancy from a family at risk for fucosidosis was monitored. Determinations of fucosidase and mannosidase were performed on the serum and white blood cells of several members of the family, om amniotic fluid and amniotic fluid cells of the fetus at several passages, and on fibroblast cell lines from index cases. The fetus was diagnosed as being free from the disease. This conclusion was confirmed after birth by fucosidase determination in plasma and white cells from cord blood, and in the placenta. Fluctuations in fucosidase activity were observed in extracts from cultured amniotic cells at various passages. The possible causes of this variability are discussed.

Adult↗
PubMed1975

Hexosaminidase C in Tay-Sachs and Sandhoff disease.

1. Hexosaminidase C has been purified from human placenta. Complete separation from hexosaminidases A and B was achieved. 2. The following properties of hexosaminidase C differ from those of the A and B isozymes. Presence in the supernatant rather than the lysosomes, neutral pH optimum, higher molecular weight, lack of activity on beta-N-acetylgalactosamine derivatives, and lack of immunological relationship. 3. Hexosaminidase C is active in patients deficient in hexosaminidases A and B and can be recognized by its characteristic electrophoretic mobility. It is concluded that the genetic origin of hexosaminidase C is probably different from that of hexosaminidases A and B.

Acetylgalactosamine↗
PubMed1975

Absence of hexosaminidase A and B in a normal adult.

In the course of screening for heterozygotes for beta-hexosaminidase deficiency, the serum and white cells of a clinically normal father of deficient children were found to have an apparent deficiency for both hexosaminidases A and B, assayed with an artificial substrate, 4-methylumbelliferyl-beta-glucosaminide. No inhibitor was present. Assayed with a natural substrate, n-acetylgalactosaminyl beta 1-4 galactosyl beta 1-4 glucosyl ceramide, which had been isolated from the brain of a patient with Tay--Sachs disease and labeled in the terminal n-acetyl-galactosamine, a value in the heterozygote range was found. It was concluded that the proband is probably a double heterozygote for two mutations; one is the classic Sandhoff type (lack of hexosaminidases A and B), giving rise to deficient offspring when combined with the same mutation borne by the wife. The other obscures any activity with the artificial substrate but allows an action on natural substrates, explaining the normal life of its carrier.

Aminoglycosides↗
PubMed1975

[Enzyme deficiencies detected on cultured fibroblasts and amniotic cells. Application to prenatal diagnosis].

The detection of enzumatic deficiencies on cultured cells is reviewed from the literature and the authors personal experience. The application to the antenatal diagnosis of enzymatic genetic diseases is discussed, with special reference to lysosomal enzymes, of which the deficiency is most frequent. The authors insist on the importance of such detections and the problems which they may have to meet.

Amniotic Fluid↗
PubMedDate not supplied

Amniotic fluid protease activity and the prenatal detection of cystic fibrosis.

Changes in the protease activity in amniotic fluid has been proposed as a valid method for the prenatal detection of cystic fibrosis (CF). We have studied by quantitative and qualitative procedures, sixty four amniotic fluids: two of them from CF-affected fetuses. Interpretation of the benzoyl arginine ethyl ester (BAEE)-staining patterns after isoelectric focusing was often difficult, and repeated experiments gave variable results. In order to improve gel discrimination, we performed amniotic fluid electrofocusing in the presence of detergents: 0.1 per cent Triton X-100, 0.1 per cent DOC, or 0.1 per cent SDS. In these conditions, the pattern revealed by BAEE was modified, but no differences were observed between CF and normal amniotic fluids.

Amniotic Fluid↗
PubMedDate not supplied

Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.

We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one on trophoblast biopsy samples. Both of them were confirmed after abortion on cultured cells. Prenatal diagnosis of TSD, even of some atypical forms is possible using trophoblast biopsy, but formal confirmation should be obtained on cultured trophoblasts.

Abortion, Induced↗