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R Bernstein

Publications and source records attributed to R Bernstein.

At least 91 records · Page 5Linked to original sources
PubMed1987

Family study of the major histocompatibility complex in HLA DR3 negative patients with systemic lupus erythematosus.

Susceptibility to systemic lupus erythematosus (SLE) is known to be governed by genes in the HLA region of the 6th chromosome. From previous studies it has not been possible to distinguish between the effects of null genes for the complement component C4 and HLA-DR3, because of the marked linkage disequilibrium between DR3 and a null allele of C4A (C4A QO) in caucasoid populations. We report here an immunogenetic study of 44 cases of SLE, selected because they were DR3 negative. Eighteen of the 30 Caucasoid cases (60%) had extended HLA haplotypes with a C4 null allele, compared with 22 of 60 (37%) of a control panel of 60 DR3 negative normal Caucasoid subjects. This difference is significant (chi 2 = 4.41; 0.05 greater than P greater than 0.01). Of 14 non-caucasoid patients analysed, 10 had a C4 null allele. It is concluded that the null alleles of the C4 A and B genes are themselves directly responsible for conferring susceptibility to SLE.

Alleles↗
PubMed1987

High incidence of anticardiolipin antibodies in relatives of patients with systemic lupus erythematosus.

Anticardiolipin antibodies (aCL) were measured in the serum of 22 patients with systemic lupus erythematosus (SLE) and 101 of their first degree relatives. Four patients' sera (18%) were positive. Eight sera from relatives were strongly positive (7.9%). All 8 relatives came from different families, and only 3 of them were related to a positive positive proband. All 8 had clinical and/or other serological abnormalities, compared with only 30% of the aCL negative relatives (p less than 0.05). There were no reports or evidence of thrombosis, thrombocytopenia or spontaneous abortion among the aCL positive relatives. Our data indicate a strikingly higher incidence of aCL among relatives of lupus patients compared with controls. This may be associated with an increased incidence of abnormal clinical or serological findings in these individuals, and constitute a feature of a genetic predisposition to SLE.

Adult↗
PubMed1986

Hibernoma. A case report and discussion of a rare tumor.

A case report is presented of a large retroperitoneal hibernoma along with the clinical, radiographic, and pathologic findings. Despite the unusual size and location of this hibernoma, the case illustrates the salient features of these rare tumors of brown fat origin. Pitfalls in preoperative diagnosis are discussed. To date, there has been no convincing evidence of malignant potential of this tumor, and total excision remains the treatment of choice.

Adult↗
PubMed1986

Inverted Y chromosome polymorphism in the Gujerati Muslim Indian population of South Africa.

An inverted Y chromosome has been found at a very high frequency in a Muslim Indian community living in the Johannesburg-Witwatersrand area of the Transvaal Province of South Africa: 8 of 141 (5.7%) retrospectively identified Indian males had an inv(Y)(p11.2q11.23) and all were of the Muslim faith. The inversion was found in 22 of 72 (30.5%) prospectively studied normal Muslim Indian males. All the carriers of the inversion were Gujarati-speakers whose families migrated to the Transvaal from the Gujerat Province of India during the first half of this century. The origins of the ancestors of the individuals with inv(Y) were traced to a small village, Kholvad, near the city of Surat, and some neighbouring villages. The polymorphic frequency of the inv(Y) has probably been produced through random genetic drift in a reproductively isolated community, maintained by strict endogamous marriage customs based on religious and linguistic affiliations. There was no indication that the inverted Y was associated with any reproductive disadvantages.

Black People↗
PubMed1986

Interscalene brachial plexus block anesthesia for upper extremity surgery.

Use of the interscalene brachial plexus block for upper extremity anesthesia in a primarily rheumatoid population is reviewed in 88 cases. The interscalene approach described by Winnie was used. Anesthesia was effective in 93% of the cases. Failure to achieve anesthesia was more likely to occur in surgical procedures on the distal upper extremities. The technique allowed effective and reliable anesthesia throughout the upper extremity, including the shoulder. Problems associated with other forms of upper extremity regional anesthesia, such as tourniquet pain, pneumothorax, systemic anesthetic toxicity, and inadequate duration of anesthesia, were not encountered. Difficulties with more distally based block administration due to decreased shoulder motion were obviated.

Anesthetics, Local↗
PubMed1986

Acute childhood leukemia in Johannesburg. Ethnic differences in incidence, cell type, and survival.

Acute childhood leukemia was found to be less common in black children than in white children in the Johannesburg area of South Africa. Of 195 consecutive patients, 78 were black and 117 white. The annual incidence was 0.8/100,000 black children and 3.3/100,000 white. The low incidence in black children was due to the very low incidence of acute lymphoblastic leukemia (ALL), which was 0.41/100,000 black children compared with 2.73/100,000 white children. The incidence of acute nonlymphoblastic leukemia (ANLL) was approximately the same for both ethnic groups; 0.38/100,000 black children and 0.57/100,000 white children. Remission rates for black children with ALL were lower than for white children and the cumulative proportion of black patients surviving at 60 months was only 32% compared with 72% of white patients (p = 0.0001). The most significant poor prognostic factors in ALL were ethnic group and age (p = 0.0006), CNS disease at onset (p = 0.006), FAB L2 and L3 morphology (p = 0.05), and irregular clinic attendance during maintenance therapy (p = 0.05). In ANLL, remission and survival rates were less favorable than in ALL but there were no significant differences between black and white patients. Black patients exhibited certain clinical features rarely seen in white patients, including chloromata, oropharyngeal lesions, and CNS involvement at onset. Karyotypic abnormalities were common. The most significant poor prognostic factors in ANLL were CNS disease at onset (p = 0.03), generalized lymphadenopathy (p = 0.0001), and FAB morphology classification M3-M6 (p = 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)

Acute Disease↗
PubMed1986

Chromosome 3q21 abnormalities associated with hyperactive thrombopoiesis in acute blastic transformation of chronic myeloid leukemia.

Two patients with acute blastic transformation of chronic myeloid leukemia (CML) associated with strikingly elevated platelet counts showed abnormalities of chromosome 3q in addition to the standard Philadelphia (Ph1) chromosome translocation. The first patient had an inversion of chromosome 3 (q21q26) cytologically identical to an inversion 3 previously reported in de novo acute megakaryoblastic leukemia, and the second patient showed a translocation between chromosome 3q and the chromosome 9 homologue not involved in the Ph1 translocation, [t(3;9)(q21;q34)]. Previous studies had incriminated either 3q21 or 3q26 as the locus for a regulatory thrombopoietic gene, but the current study suggests that 3q21 is the relevant site.

Adult↗
PubMed1985

Chorionic villus sampling for first trimester diagnosis of beta-thalassaemia. Report of the first South African case.

The first South African report of chorionic villus sampling for molecular diagnosis of beta-thalassaemia in a 10-weeks' pregnant Indian Muslim woman is presented. The sampling procedure and molecular techniques for sexing the fetus and establishing whether it was affected by beta-thalassaemia are described. From the sample of villi obtained a male fetus was identified, using an X-Y-specific DNA probe. A preliminary family study on both parents, the affected proband and his 4 phenotypically normal siblings, revealed two informative restriction fragment length polymorphisms in the mother, but none in the father. It was therefore not possible to differentiate between the two beta-globin gene alleles of the father. The fetus thus had a 50% chance of being a heterozygote or a 50% risk of being affected. Synthetic oligonucleotide hybridization of parental and fetal DNA was attempted by the Genetics Unit of Johns Hopkins Hospital, Baltimore, but the fetal hybridization was unsuccessful. Results on the parents were obtained too late to be of assistance in the present pregnancy as the parents requested termination of the pregnancy before 16 weeks' gestation for religious reasons.

Chorionic Villi↗
PubMed1985

Segregation patterns and phenotypes of unbalanced offspring in a large family with (10;18) chromosome translocation.

We describe a large family in whom a balanced 10;18 chromosome translocation is segregating through five generations. Six severely mentally retarded relatives and an abnormal fetus further define the phenotypic expression of dup (18q21----qter). Other segregants detected prenatally included a fetus with deletion 18q21----qter and two fetuses with dup(18pter----q21) owing to tertiary trisomy. One of the latter also had an extra X chromosome; this might be another example of possible nonhomologous pairing in man.

Chromosome Aberrations↗
PubMed1985

The PLC/PRF/5 human hepatoma cell line. I. Reevaluation of the karyotype.

The karyotype of the PLC/PRF/5 (Alexander) human hepatoma cell line was identified at passage +/- 110, prior to attempting in situ hybridization studies to determine the chromosomal localization of the hepatitis B virus (HBV) DNA integration sites. The karyotype was established by means of G-, Q-, and sequential C-banding techniques. Multiple consistent numerical and structural abnormalities were detected. These were compared with the original published unbanded karyotype of this cell line (at passage less than 25) and also with a previously published banded karyotype (at passages 60-90). Despite minor differences in the compared banded karyotypes (which are probably interpretational), the concordance in modal number and morphological karyotypic similarities over the course of 10 years indicate that this cell line is stable in vitro.

Carcinoma, Hepatocellular↗
PubMed1985

The PLC/PRF/5 human hepatoma cell line. II. Chromosomal assignment of hepatitis B virus integration sites.

The chromosomal sites at which hepatitis B virus (HBV) DNA is integrated into the genome of the hepatocellular carcinoma (HCC) cell line, PLC/PRF/5 were investigated in an attempt to understand the mechanisms by which hepatitis B virus may induce malignant transformation. In situ hybridization of an HBV DNA probe to metaphase chromosomes of the PLC/PRF/5 cell line, followed by statistical analysis, identified three integration sites; these were 15q22-q23, 11q22, and 18q12. In particular, hybridization to chromosome #15, which is present in four copies in complete metaphases of this cell line, was highly significant (p much less than 0.0005).

Adult↗
PubMed1985

Acute megakaryoblastic leukaemia with 3q inversion and elevated thrombopoietin (TSF): an autocrine role for TSF?

A patient with acute megakaryoblastic leukaemia is described in whom exactly the same paracentric inversion of 3q was detected as in three previously documented cases. The patient's serum thrombopoietin (TSF) was significantly raised. Based on these findings we postulate a role for a gene (? oncogene) on chromosome 3q in thrombopoietin production. Abnormalities of 3q may assist in delineating a subgroup of acute nonlymphocytic leukaemia, namely acute megakaryoblastic leukaemia.

Bone Marrow↗
PubMed1985

Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

Four cases of lethal short rib-polydactyly syndrome (SRPS) from three non-consanguineous families are described. Radiological features were similar in all four cases and were most consistent with type III SRPS (Verma-Naumoff syndrome), but many differences in external and systemic abnormalities were noted. The considerable overlap of supposedly distinctive features displayed by the three main forms of SRPS is suggestive of a single locus mutation with variable expressivity, particularly for types I and III, possibly related to different mutant alleles and secondary intrauterine modification of the phenotype. All four cases showed anomalous sexual development. In spite of testicular differentiation in all four and a 46, XY karyotype in the two on whom chromosome studies were done, two infants were phenotypic females and two had ambiguous genitalia. A definitive diagnosis of SRPS was made at 26 weeks' gestation in a pregnancy at risk.

Chromosome Mapping↗