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Biomedical subjects

J Bamberger

Publications and source records attributed to J Bamberger.

14 recordsLinked to original sources
PubMed1985

[Acute erythroblastopenia disclosing homozygous beta-thalassemia. Role of parvovirus infection].

An acute, transient aplastic crisis in a 15-month old boy revealed the presence of homozygous beta-thalassaemia. The crisis was very likely due to a parvovirus infection, in view of the presence of specific IgM at the onset and of seroconversion to total antibodies. Later, requirements for transfusions were in favour of an intermediate type thalassaemia. The responsibility of the parvovirus is discussed in the light of recent data concerning the inhibitory action of this virus on bone marrow erythropoiesis.

Acute Disease↗
PubMed1985

[Acquired toxoplasmic chorioretinitis with a late onset].

Maternal toxoplasma infection was responsible for congenital toxoplasmosis with ocular and cerebral manifestations in the infant. The acquired character of the toxoplasmosis in the 5th month of pregnancy was confirmed by serologic data and isolation of the parasite from the placenta. Five years later, an evolutive chorioretinitis was found in the mother. The toxoplasma origin of the ocular injury was proven by the study of aqueous humor. This case report is compared with the rare similar cases in the literature. The late discovery of ocular impairment is discussed.

Adult↗
PubMed1981

[Prenatal diagnosis of generalized cytochrome b5 reductase deficiency (congenital methemoglobinemia with mental retardation, type II) (author's transl)].

Two first cases of prenatal diagnosis of generalized cytochrome b5 reductase deficiency are presented. In each family, there was an index case with a clinical pattern of congenital methemoglobinemia associated with severe mental retardation (type II). The foetal cells were obtained by amniocentesis at 16 weeks of pregnancy at risk. The cells were cultured, and their cytochrome b5 reductase activity was compared to control amniotic cells, and to cultured fibroblasts originating from the index case. In the first family this led to the conclusion that the foetus was normal or heterozygous. The pregnancy was continued, and the mother delivered a normal newborn with normal red-cell cytochrome b5 reductase. In the second family, the foetal cells displayed a profound decrease of cytochrome b5 reductase activity. The pregnancy was terminated and all the tissues of the aborted foetus exhibited the enzyme deficiency. It is concluded that prenatal diagnosis of the severe form of congenital methemoglobinemia can be performed without ambiguity.

Amniotic Fluid↗
PubMed1979

[Fucosidosis and blood group substances in the urine].

Glycopeptide and oligosaccharide fractions obtained from fucosidosis urine contains more Lea activity (4-8 fold) than control urine. Both fucosidosis fractions also contained Leb and H activities, no A activity in contrast to the salivary and erythrocyte phenotypes (A, Le a+ b-). The amount of Leb activity is lower in both fractions (1) and (2) than that of Leb control children (4-16 fold decrease). Blood group A activity was not detected at any concentration used (less than or equal to 50 fold-concentrated urine) whereas A activity was found in (A, Le a- b+) control urine. On the contrary, both fucosidosis fractions contained H activity, whereas A (Le a- b+) control children fractions had none (less than or equal to 50-fold concentrated urine). H and Leb activity might originate from Lea precursor apart from the "non-secretory" type of the patient.

Blood Group Antigens↗
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↗