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Biomedical subjects

R Bernstein

Publications and source records attributed to R Bernstein.

At least 145 records · Page 8Linked to original sources
PubMed1980

Chromosomal aberrations in occupation-associated progressive systemic sclerosis.

An occupational association between progressive systemic sclerosis (PSS) and workers in the goldmining industry in South Africa was first documented in 1957. We investigated the chromosomes of 18 goldminers suspected to be suffering from PSS. Eight patients were classified as definite cases of PSS, and a highly significant increase in unstable (Cu) cells and random aneuploidy was found in this group compared with control subjects (P < 0,001). Ten patients had some of the features of the disease, and in this group there was a significant increase in the number of Cu cells ( P < 0,05) and a highly significant increase in the number of aneuploid cells (P < 0,001). There was a significant increase in the number of sister chromatid exchanges per cell in the 6 patients screened. These findings are similar to those reported in PSS sufferers who have not had occupational exposure.

Adult↗
PubMed1980

Two years of mid-trimester amniocentesis in Johannesburg.

During a 2-year period 438 mid-trimester amniocenteses were performed on women at risk of producing an abnormal infant. The commonest indications were advanced maternal age (61% of cases), neural tube defects (18%) and Down syndrome (11%). A 92,5% follow-up revealed a spontaneous abortion rate of 3% (1,5% if abortions within 8 days of the procedure were considered). Premature birth occurred in 4,4% of cases, neonatal death or stillbirth in 0,7%, and birth defects which were detectable by amniocentesis in 2%. Abnormalities were detected in 4,9% of cases, so that 95,1% of the patients were reasured by the results obtained. No defects diagnosable by amniocentesis were missed.

Abortion, Incomplete↗
PubMed1980

Hyperimmunoglobulinaemia associated with absent suppressor cells, aplastic anaemia and trisomy 8.

A child with aplastic anaemia and trisomy 8 in bone marrow cells was observed to have extremely high levels of circulating immunglobulins. Concanavalin A (con A)-inducible suppressor cells were assessed in the patient's peripheral blood by their ability to suppress both the proliferative response of normal allogeneic cells activated in a two-way mixed lymphocyte culture with and without added phytohaemagglutinin (PHA) and the ability of normal allogeneic cells to produce the lymphokine leucocyte inhibitory factor when activated by PHA. Con A consistently failed to induce suppressor cells from the patient but not from control lymphocytes. It is suggested that the lack of suppressor cells may account for uncontrolled B-cell proliferation and associated hypergammaglobulinaemia.

Anemia, Aplastic↗
PubMed1980

Hydralazine-induced systemic lupus erythematosus: influence of HLA-DR and sex on susceptibility.

26 patients with systemic lupus erythematosus (SLE) induced by treatment with the antihypertensive drug hydralazine were investigated to determine if predisposition to the toxic effect was associated with an HLA-DR antigen. 25 of the 26 patients were slow acetylators. The group was compared with three others (1) 113 healthy subjects, untested for acetylator phenotype, (2) 16 slow-acetylator hypertensive patients treated with hydralazine for more than a year without developing SLE, and (3) 20 patients with idiopathic SLE. The frequency of HLA-DR4 (73%) was significantly higher in the group with hydralazine-induced SLE than in the other groups (respectively 33%, 25%, and 25%). The ratio of women to men affected was 4:1. If the slow acetylators treated with hydralazine were analysed as one group, it was observed that all women with DR4 developed hydralazine-induced SLE; the only men to do so were those with DR2 who were receiving 200 mg hydralazine per day. These observations have led us to suggest guide lines for hydralazine therapy and point to a striking association between an HLA-DR antigen and an adverse reaction to a therapeutic agent. It was also noted that the distribution of DR antigens in the hydralazine-SLE patients was significantly different from that in the group with idiopathic SLE. This supports the view that the syndromes are separate entities.

Acetylation↗
PubMed1980

Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries.

An abnormal extra band was found on the short arm of the X chromosome in a 46,XY female and in her 46,XY female fetal sibling. Despite presence of the intact Y chromosome, there was no evidence of testicular differentiation in either subject. Production of H-Y antigen was suppressed in both subjects. The data suggest that development of the mammalian testis requires a normal function of the X chromosome.

Female↗
PubMed1980

A human liposarcoma cell line.

The properties of a new cell line derived from a human retroperitoneal liposarcoma are described. The cells do not grow at low cell concentrations and contain in their cytoplasm large numbers of droplets that stain with Oil Red O. No indication of the presence of endogenous virus particles could be found. The mean chromosome number per cell is 36, with several constant markers, the most conspicuous of which is a large submetacentric marker due to a translocation between chromosomes 4 and 11, which is present in every cell. The liposarcoma cells show an enhanced uptake of [14C]acetate compared to normal human fibroblasts.

Acetates↗
PubMed1980

Adenocarcinoma arising in Crohn's disease: report of two cases.

Crohn's disease of the colon and small bowel is associated with a greater-than-chance increased incidence of adenocarcinoma, which also differs from the norm in age and anatomic distribution. The cancer risk appears to rise with earlier age of onset and long duration of the granulomatous disease, and the prognosis is relatively poor, probably due to difficulty in diagnosis because of the overlapping Crohn's disease. Two additional cases of adenocarcinoma arising in Crohn's disease are described.

Adenocarcinoma↗
PubMed1980

Two unrelated children with distal long arm deletion of chromosome 7: clinical features, cytogenetic and gene marker studies.

Two phenotypically abnormal, unrelated children with deletion of the distal segment of 7q (7q32 leads to pter) are described. In one instance the mother was the carrier of a balanced translocation between chromosomes 6 and 7, and in the second case the deletion was a de novo event. Their phenotype were compared to previously reported cases and found to have many non-specific clinical features in common. Gene marker studies for some of the genes tentatively localized to chromosome 7 showed no anomalous segregation. The Hageman coagulation factor (Factor XII) activity in both probands was normal, and heterozygosity for alleles of the Kidd blood group in the first proband excludes assignment of the Kidd locus to the distal portion of chromosome 7q.

Abnormalities, Multiple↗
PubMed1980

Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings.

A mentally retarded female child with multiple congenital abnormalities had an abnormal X chromosome and a Y chromosome; the karyotype was interpreted as 46,dup(X)(p21 leads to pter)Y. Prenatal chromosome studies in a later pregnancy indicated the same chromosomal abnormality in the fetus. The fetus and proband had normal female genitalia and ovarian tissue. H--Y antigen was virtually absent in both sibs, a finding consistent with the view that testis-determining genes of the Y chromosome may be suppressed by regulatory elements of the X. The abnormal X chromosome was present in the mother, the maternal grandmother, and a female sib: all were phenotypically normal and showed the karyotype 46,Xdup(X)(p21 leads to pter) with non-random inactivation of the abnormal X. Anomalous segregation of the Xga allele suggests that the Xg locus was involved in the inactivation process or that crossing-over at meiosis occurred.

Abnormalities, Multiple↗
PubMed1980

X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism.

Cytogenetic studies on a 17-year-old phenotypic male, with short stature and clinical and hormonal features of hypogonadism similar to those of an XX male, revealed an X;Y translocation, karyotype, 46,Xt(X;Y)(p22;?p11?q11). He was H-Y antigen positive. X inactivation studies showed inactivation of the abnormal X in the majority of cells (60 to 70%) and inactivation of the normal X in the remaining cells. Gene marker studies, including Xg blood grouping, showed no anomalous segregation. This patient is the second reported male showing a positively identified X;Y tanslocation with no detectable free Y chromosome and provides further indirect evidence for an X-Y interchange in the aetiology of XX male sex reversal.

Adolescent↗
PubMed1980

A reassessment of the karyotype of Papio ursinus. Homoeology between human chromosome 15 and 22 and a characteristic submetacentric baboon chromosome.

The Giemsa-banded karyotype of the chacma baboon, Papio ursinus, was shown to be identical to that of Papio hamadryas. Comparison of G-banded P. ursinus (PUR) chromosomes with those of man (HSA) showed close morphological homoeology between PUR and HSA chromosomes 5, 8, 12, 19, and X, and partial homology for seven and 22 and was the only Papio chromosome containing a nucleolar organizer region (NOR). This baboon chromosome, therefore, shows genetic homoeology with human acrocentrics for a least 18S and 28S rRNA gene loci. It is postulated that HSA 15 and 22 originated from the fission of a larger submetacentric chromosome in a lower primate.

Animals↗
PubMed1979

Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.

Ferrochelatase deficiency has been shown in both porphyria variegata (PV) and erythropoietic protoporphyria (EPP). It has been suggested that in PV there is a decrease in the enzyme, whereas in EPP the enzyme is unstable. In the present study ferrochelatase activity was measured in skin fibroblasts from three patients with PV and three normal subjects. The enzymatic activity in the patients with PV (17.5 +/- 4.5 pmoles heme formed per 10(7) fibroblasts per hour) was 50% of that of the control group (31.0 +/- 3.2 pmoles heme formed per 10(7) fibroblasts per hour). This supports the contention that the enzyme is deficient in PV and that an inactive ferrochelatase is the primary deficiency in this type of porphyria.

Fibroblasts↗
PubMed1979

X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.

Cytogenetic studies on a retarded girl showed a complex S;15 translocation, karyotype 45,X,-15,+t(X15). The translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm. Gene marker studies failed to show anomalous segregation of the hexosaminidase A gene or any other gene markers tested.

Abnormalities, Multiple↗
PubMed1979

Chromosome studies on a human liposarcoma cell line.

Numerical and structural chromosome analysis of a human retroperitoneal liposarcoma cell line maintained under standard cell culture conditions revealed a very stable hypodiploid mode. If the cells were not trypsinized for several generations, a near-triploid stemline, which was generally a duplication of the hypodiploid mode, emerged. Some chromosomes appeared to be relatively stable pairs (1, 2, 7, 9, and 12), but most had "lost" one homolog or both (4 and 21) or were rearranged into "new" marker chromosomes. Quantitation of the genetic material showed a loss of 12.0 +/- 3.7% per spread. Only one characteristically long marker chromosome, which is present in every cell, could be identified with certainty as a translocation between chromosomes 4 and 11. Several of the marker chromosomes showed interstitial negatively staining regions with the trypsin-Giemsa method.

Cell Line↗