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Biomedical subjects

R Berger

Publications and source records attributed to R Berger.

At least 595 records · Page 33Linked to original sources
PubMed1988

Activation of fatty acid oxidation in the Silver-Russell syndrome and the Brachmann-de Lange syndrome.

We describe a similar metabolic pattern of hyperketosis, ketonaciduria, and C6-C12 dicarboxylic aciduria in a patient with the Silver-Russell syndrome and a patient with the Brachmann-de Lange syndrome. Fasting blood levels of beta-hydroxybutyrate and acetoacetate were significantly higher than in age-matched controls, and both patients showed massive urinary excretion of beta-hydroxybutyrate, acetoacetate and C6-C12 dicarboxylic acids.

3-Hydroxybutyric Acid↗
PubMed1988

Cytogenetic study of 130 childhood acute nonlymphocytic leukemias.

Cytogenetic studies performed on 130 consecutive childhood acute nonlymphocytic leukemias (ANLL) investigated in the same center between 1977 and 1986 are reported. The incidence of clonal chromosomal abnormalities was 68.5% with uneven distribution among the groups of the FAB nomenclature. The high incidence of t(8;21) translocation cases, which was 58.6% of M2 ANLL cases, was remarkable. Complete remission rate was lower (P less than 0.05) in ANLL with all karyotypically abnormal metaphases (AA) than in the other ANLL (NN, with only normal metaphases, and AN, with a mixture of normal and abnormal metaphases). Median survival was also shorter in AA ANLL than in AN and NN cases (P less than 0.01). Median survival was different according to karyotype abnormalities: 11q anomalies and t(15;17) were not associated with a good prognosis, and the t(8;21) is not associated with a particularly long median survival (16 months) when compared with other ANLL as opposed to the results of others. The longest survival (26 months) was observed in patients with acute myelomonocytic leukemia with bone marrow eosinophilia. It may be concluded that chromosome studies have a prognostic value in childhood ANLL.

Bone Marrow Examination↗
PubMed1988

Localization of the villin gene on human chromosome 2q35-q36 and on mouse chromosome 1.

A partial cDNA clone coding for the 110 carboxyterminal amino acids of human villin was used for mapping the human villin gene. In situ hybridization experiments on human chromosomes with tritiated probe allowed the regional localization of the villin locus to chromosome 2 at q35-36. Data obtained from restriction fragment length polymorphism analysis of two mouse species demonstrated the assignment of the villin gene to mouse chromosome 1 by assessment of linkage with the fast skeletal isoform of the myosin light-chain gene. These villin gene localizations add a fourth locus to the conserved gene cluster encoding the fast skeletal muscle isoform of the myosin light chain, isocitrate dehydrogenase, and the gamma crystallins and confirm the partial homology of the human chromosome 2 long arm and mouse chromosome 1.

Animals↗
PubMed1988

The ras-related ral gene maps to chromosome 7p15-22.

Human cDNAs coding for the new protein ral that shares 50% homology with the ras proteins have been recently isolated. A 600-bp fragment carrying mainly the coding region was used to localize the ral gene by hybridization with sorted chromosomes and in situ hybridization. Direct molecular hybridization on sorted chromosomes using a single laser illumination allowed the assignment of the ral gene to a region of the flow karyotype containing chromosomes 7, 8 and X. With dual laser analysis ral was assigned to the fraction containing chromosome 7. In the 331 human metaphases hybridized with the 3H-labelled insert, the silver grain distribution showed a unique major signal on chromosome 7p15-22.

Cell Line, Transformed↗
PubMed1988

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.

Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father and a sister, all of whom were clinically well. Mevalonate kinase activity in extracts of cultured skin fibroblasts and transformed lymphoblasts derived from the parents of the patient were 43%-52% of the mean control values. These data are consistent with an autosomal recessive mode of inheritance for mevalonate kinase deficiency.

Carboxy-Lyases↗
PubMed1988

Interference between strains in live virus vaccines, I: Combined vaccination with measles, mumps and rubella vaccine.

One to four different lots of four commercially available trivalent measles-mumps-rubella vaccines were tested for their efficacy as measured by the induction of antibodies to the three vaccine viruses. All of the products were satisfactory although a 100% seroconversion rate was attained regularly only with rubella vaccine. The live virus in the different measles and mumps vaccine components and especially the relative amounts of measles to mumps virus varied widely. Obviously, the efficacy of a vaccine should not be judged only by the virus content. Of main importance is the further adjustment of the dosage of the interfering vaccine virus strains in relation to their attenuation.

Antibodies, Viral↗
PubMed1988

Interference between strains in live virus vaccines. II: Combined vaccination with varicella and measles-mumps-rubella vaccine.

A combined vaccine against varicella and measles-mumps-rubella made by mixing two commercially available products (Varilrix and Pluserix SK-RIT) has proved to be only partially successful in early trials. Although the seroconversion rates with the MMR components were comparable with those usually achieved, the varicella take was depressed to 77%. A new low dose measles-mumps-rubella vaccine was prepared in which the measles virus content was reduced to 1/5 and the mumps virus content to 1/8. Commercial varicella vaccine was added to the low dose MMR vaccine. The seroconversion rates for measles was 98.2%, for mumps 100%, for rubella 99.4% and for varicella 98%. This product seemed to be well balanced in respect of a possible interference between the four different virus vaccine strains.

Antibodies, Viral↗
PubMed1988

Cytogenetic evaluation of bone marrow involvement in Burkitt's lymphoma.

Twenty-six bone marrow samples from 21 patients with Burkitt's lymphoma were examined cytogenetically after short-term culture. Clonal chromosomal changes were detected in one of 18 samples from morphologically normal marrows, and in three out of six samples with verified tumor invasion. Three patients had the translocation (8;14)(q24;q32) and one had t(2;8)(p12;q24). Two samples with suspect tumor involvement (less than 5% putative tumor cells) showed no clonal abnormalities. In two samples without morphologic bone marrow infiltration and with only normal metaphases in short-term cultures, clones with t(8;14)(q24;q32) were revealed after a longer time (3-12 weeks) spent in vitro.

Adolescent↗
PubMed1988

Cytogenetics of T-cell malignant lymphoma. Report of 17 cases and review of the chromosomal breakpoints.

Cytogenetic studies are reported on 17 T-cell malignant lymphomas (ML) including six cutaneous T-cell malignant lymphomas (CTCL). Due to the low incidence of rearrangements on bands where the T-cell receptor genes are located, other cases reported in the literature were analyzed in order to estimate the most frequent chromosomal breakpoints in ML, CTCL, and adult T-cell leukemia-lymphoma. Besides chromosomes 1 and 6q, 14q11, 7p15p21, and 7q32q35, the most frequent rearrangements involved bands 14q32, 2p11-p14, 2p23-p25, 17cen, 9p21p23, and 10p13p15. These results show that molecular studies must be concentrated on these chromosomal regions in order to identify the DNA sequences that may be involved in T-cell malignancies.

Adult↗
PubMed1988

Cytogenetic studies on acute nonlymphocytic leukemia in relapse.

Karyotypic abnormalities were compared in 42 acute nonlymphocytic leukemia patients at diagnosis and in relapse. Clonal changes were observed in 21 cases. The types of changes were the appearance of clonal abnormalities in relapse in four patients without clonal changes at diagnosis, the detection of new abnormalities superimposed on preexisting ones in 11 cases, and the selection of an abnormal clone in six others. Nonclonal structural abnormalities, mainly involving chromosomes 17 and 12p, were detected in relapse in 17 patients, compared to seven at diagnosis. The appearance of totally new clonal changes at relapse and the role of individual sensitivity to chemotherapy are discussed.

Acute Disease↗
PubMed1988

Cytogenetic studies of Burkitt lymphoma-leukemia in patients with acquired immunodeficiency syndrome.

The frequency of Burkitt lymphoma-leukemia (BL) is high in patients with acquired immunodeficiency syndrome (AIDS). We describe four such cases, three with a translocation t(8;14)(q24;q32) and one with a t(8;22)(q24;q11). No Epstein-Barr virus genome was found in the tumorous cells of this patient. Including these cases, 13 patients with AIDS-associated BL have been reported so far with specific translocations. Three had a t(8q+; 22q-) variant translocation and the other ten patients had the t(8q-; 14q+). Associated chromosomal abnormalities were as frequent as in ordinary BL and were comparable with those occurring in cases of other BL, such as partial duplication of 1q and 13q34 rearrangements. Trisomy 12, however, was observed in 3 out of 13 AIDS-associated BL cases.

Acquired Immunodeficiency Syndrome↗
PubMed1988

Immunogenicity of a heat-treated recombinant DNA hepatitis B vaccine.

The effect of heating on the reactogenicity and the immunogenicity of a recombinant DNA hepatitis B vaccine was examined. Treatment of this vaccine for one week at 37 degrees C did not significantly alter these properties when compared to vaccine stored at 4 degrees C. These results have important implications in countries where facilities for the transport and handling of vaccines are often inadequate.

Adult↗
PubMed1988

Persistence of antibodies following vaccination with a yeast-derived recombinant hepatitis B vaccine.

The persistence of anti-HBs antibodies elicited in response to vaccination with a recombinant yeast-derived hepatitis B vaccine was examined. Three years after vaccination following two different schedules (0, 1, 6 months and 0, 1, 2, 12 months), anti-HBs antibody titres obtained after vaccination with the yeast-derived vaccine were similar to those observed using a plasma-derived vaccine. At this time, nearly 100% of all vaccinees had anti-HBs antibody titres over the protective limit of 10 mIU ml-1. These results suggest that the yeast-derived vaccine will confer protection against hepatitis B infection for about the same length of time as the plasma-derived vaccine.

Adult↗