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Biomedical subjects

R Berger

Publications and source records attributed to R Berger.

At least 811 records · Page 45Linked to original sources
PubMed1980

[Familial partial pyruvic dehydrogenase deficiency (author's transl)].

Pyruvic dehydrogenase deficiency was found in two living children of a Turkish family, whereas lactate acidosis was found in a dead child. Two further children died with a pattern of a therapy-refractory metabolic acidosis without any recognisable cause. The prerequisites for the creation of lactate acidosis are demonstrated by the example of pyruvic dehydrogenase deficiency. The extent of remaining activity in case of peruvic dehydrogenase deficiency determines the pattern of clinical signs and the course of the disease which can be influenced to a varying degree by additional complications and different attempts at treatment.

Acidosis↗
PubMed1980

Bone marrow transplantation in Fanconi anaemia.

Five patients with Fanconi anaemia have been treated by bone marrow transplantation from HLA identical donors. Only one patient survived for more than 3 years. She is now perfectly healthy with complete haematological reconstitution with chimaerism and disparition of chromosomal abnormalities. In contrast, four patients died of acute severe GVHD soon after grafting. In addition, all had signs of severe cyclophosphamide toxicity. This evolution could be explained by a special sensitivity of FA cells to alkylating agents and may indicate the need to modify the conditioning regimen in FA patients.

Anemia, Aplastic↗
PubMed1980

In vitro effect of cyclophosphamide metabolites on chromosomes of Fanconi anaemia patients.

The effect of cyclophosphamide metabolites was studied on chromosomes of FAnconi anaemia patients, parents and controls. A high susceptibility of Fa patients chromosomes was observed when low concentrations of sera of a cyclophosphamide-treated patient was added to PHA-stimulated lymphocyte cultures. No effect was observed with comparable concentrations on cells from FA parents or controls. The high susceptibility of FA cells is discussed in relation to the high sensitivity of FA patients to cyclophosphamide when used as a conditioning drug for bone marrow graft.

Anemia, Aplastic↗
PubMed1980

Burkitt's lymphoma occurring 6 years after Hodgkin's disease.

The occurrence of Burkitt's lymphoma (BL) following Hodgkin's disease (HD) has not yet been reported. A patient treated for HD by chemotherapy-radiotherapy association developed a BL 6 years later: it was demonstrated by cytological, cytochemical, immunological and cytogenetical--translocation t (8; 14)--characteristics. Our hypothesis is that, in this case, BL may be the consequences of chemotherapy-radiotherapy association.

Adult↗
PubMed1980

Pulmonary stronglyoidiasis complicating therapy with corticosteroids. Report of a case with secondary bacterial infections.

We report a case of pulmonary strongloidiasis which occurred after high-dose corticosteroid therapy. Our patient responded very well to treatment with thiabendazole, despite the fact that the steroids were contined throughout his entire hospital course. Further complications included pseudomonas meningitis and Klebsiella pneumoniae pneumonia, both of which resolved with appropriate treatment.

Aged↗
PubMed1980

[Isoprinosine and human chromosomes (author's transl)].

The incidence of chromatid and chromosome abnormalities and that of SCE induced by isoprinosine was studied in human lymphocyte cultures. No effect was detected in vivo. In vitro the only effect detected was an increased SCE incidence when isoprinosine at 1000 microgram/ml in culture medium was used.

Adolescent↗
PubMed1980

The effect of levamisole on human chromosomes.

The effects of levamisole on human chromosomes have been studied using lymphocyte cultures. A slight excess of chromatid and chromosome breaks and gaps was observed in both in vitro and in vivo studies. An excess of SCE was observed in vivo but not in vitro when similar levamisole concentrations were used.

Chromatids↗
PubMed1979

Partial trisomy 6p.

A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been due to partial 2p monosomy. Comparison with seven other cases of trisomy 6p allowed the delineation of a clinical entity. Direct proof of the localization of HLA genes was given by the presence of three haplotypes in the index patient.

Abnormalities, Multiple↗
PubMed1979

[A new variety of acute non-promyelocytic leukemia with t(15;17)].

Three cases of a new variety of acute leukemia have been reported. The main features were: hyperleukocytosis made of large-sized blasts with a double shaped nucleus, few or no granulations in the cytoplasm, and in a few cell faggots or unique Auer rods; mycloperoxydase reaction was positive. This feature was associated with disseminated intravascular coagulation syndrome and t(15;17)(q22;q21) translocation in the majority of mitoses.

Acute Disease↗
PubMed1979

A new translocation in Burkitt's tumor cells.

A t(8;22)(q24;q11) translocation was found in blood, bone marrow, and ascites cells from a European Burkitt's lymphoma. Cell surface markers were identified as monoclonal IgG. The relationship between these two unusual findings is questionable in this cytologically typical Burkitt's lymphoma.

Aged↗