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Biomedical subjects

R Bernstein

Publications and source records attributed to R Bernstein.

At least 109 records · Page 6Linked to original sources
PubMed1984

Amniotic band syndrome and conditions simulating disruption malformations.

Twelve cases of fetal malformation due to the amniotic band syndrome (ABS) or disruption sequence were reviewed; these included craniofacial malformations, limb defects and gastroschisis. No one case was similar to another. The initial diagnosis was correct in 5 of the 12 cases, mainly those involving limb defects. All 4 cases in which major malformations were present were initially diagnosed incorrectly. The importance of correct diagnosis mainly concerns counselling regarding the future risk of recurrence--the probability of familial recurrence of ABS is very low, whereas the risk of recurrence of a familial neural tube defect is about 5%.

Amniotic Band Syndrome↗
PubMed1984

"Leukemic" pattern of in vitro growth in a patient with Down syndrome and transient myeloproliferative disorder.

Peripheral blood cells from a female infant with Down syndrome and over 60% circulating myeloblasts were cultured in soft agar. Growth was virtually restricted to cluster formation, and cluster-forming cells resided almost exclusively in the very light density fraction (SG less than 1.062). Morphological assessment of clusters revealed no evidence of cellular differentiation beyond the blast cell stage. Despite receiving no specific chemotherapy, the peripheral blood normalized within 2 months, and there was no evidence of leukemia when the patient died aged 1 year from cardiac pathology. The findings indicate that caution should be exercised when assessing prognosis on the basis of in vitro growth characteristics in such patients.

Agar↗
PubMed1984

Non-random in vitro 7;14 translocations detected in a routine cytogenetic series. 12 examples and their possible significance.

This study describes 12 examples of translocations between chromosomes 7 and 14 in short-term peripheral blood lymphocyte cultures from 10 patients investigated in a routine cytogenetic series. Only one constant breakpoint was found on 14q, and chromosome 7 had two constant breakpoints, one on 7p and the other on 7q. The cause and true significance of such nonrandom in vitro chromosome translocations is not known at present, but one may speculate as to their possible indication of heterozygosity for a chromosome instability syndrome and thus a predilection for the development of lymphoid or other malignancy.

Adult↗
PubMed1984

Retroperitoneal malacoplakia.

Malacoplakia is an uncommon, pathologically distinct, granulomatous disease that occurs most frequently in the urinary tract. It can present as an abdominal mass in a patient with urinary tract infection. A case of retroperitoneal malacoplakia with CT findings and successful treatment with radiation therapy is presented.

Adolescent↗
PubMed1984

Ileal segment replacement of ureter. I. Effects on kidney of refluxing vs nonrefluxing ileovesical anastomosis.

Unilateral partial ureteral obstruction was induced in 32 dogs followed by total ileal replacement of the obstructed ureter. The morphologic and functional effects on the kidney using a freely refluxing versus a nonrefluxing ileovesical anastomosis were compared, as well as the effect of total tapering of the reimplanted ileal segment. The tapered ileovesical anastomosis proved more reliable for prevention of reflux than the nontapered technique. Reflux prevention does not appear necessary for maintaining renal morphology and function when bladder function is normal and the observation period short. Total tapering of the ileal segment did not prove to be advantageous in protecting against hyperchloremic acidosis in this short-term canine study.

Animals↗
PubMed1984

The incidence, type, and subsequent evolution of 14 variant Ph1 translocations in 180 South African patients with Ph1-positive chronic myeloid leukemia.

A Philadelphia (Ph1) chromosome translocation was found in 180 of 198 cases of chronic myeloid leukemia (CML). A standard t(9;22) was present in 166 patients, 83 of whom were black, 79 white, and 4 of "mixed" ancestry; whereas a variant Ph1 translocation was detected in 14 patients (7.8%), 11 of whom were black and only 3 white. There was a higher frequency of a variant Ph1 among black patients compared with whites. The significantly higher frequency of a variant among our patients compared with surveys from elsewhere could be due to differing environmental agents. Simple variants were detected in four patients. Complex variants were found in eight cases; in one of these patients, only chromosomes #9 and #22 were involved, but a complex rearrangement of chromosome #9 had occurred. A "masked" Ph1 translocation was detected in two cases, both of which showed monosomy #22 because the Ph1 chromosome was incorporated or interchanged with chromosome #9. Karyotypic evolution of the Ph1-positive cell line was observed more frequently in the variant group (71.4%) than the standard group (29.5%). This difference was significant (p less than 0.005). There was no difference in the type of clonal changes seen in standard and variant groups. The majority of clonal changes were observed during the acute stage in both groups. In the variant group, there was no obvious correlation between the type of variant, type of clonal change, blast morphology, or survival. Their initial survival pattern resembled that of Ph1-negative cases, but those patients who survived longer than 1 year showed a survival trend similar to standard Ph1-positive cases. Possible explanations for the specificity of chromosome #22 involvement and the constancy of the 22q11 breakpoint in all these variant translocations are discussed.

Adult↗
PubMed1984

Chromosome patterns in 26 South African children with acute nonlymphocytic leukemia (ANLL).

Of 46 black leukemic children 52% had acute nonlymphocytic leukemia (ANLL), whereas only 11% of 62 white leukemic children had the disease. An abnormal karyotype was found in 73% of the 26 children with ANLL, and the majority of abnormal karyotypes were pseudodiploid. "Balanced" translocations were noted in 10 children, of whom four had t(8;21) associated with M2 ANLL, two had t(15;17) and M3 ANLL, two had a t(9;22), one child with M5 ANLL had t(10p;11q), and an infant with congenital M5 ANLL had t(8;16). Monosomy #7 was detected in two preleukemic children who subsequently developed M4 ANLL. Hyperdiploidy was present in only three cases. These patterns were compared with those of other published series, confirming the increased frequency of chromosome abnormalities in children with ANLL. The differing ratio of ANLL:ALL, some of the distinctive clinical features, and the high frequency of detectable chromosome abnormalities in black children may be reflections of a particular oncogenic agent(s) within their environmental background that could be responsible for the initiation of the leukemic process.

Adolescent↗
PubMed1984

Fourth International Workshop on Chromosomes in Leukemia 1982: Abnormalities of chromosome 7 resulting in monosomy 7 or in deletion of the long arm (7q-): review of translocations, breakpoints, and associated abnormalities.

In summary, of 64 patients with total or partial monosomy 7, 21 cases showed a deletion of 7q, and a translocation resulting in loss of the whole or major portion of 7q was detected in six other cases; a consistent translocation involving chromosomes #7 and #17 was observed in four of the latter cases, resulting in an effective loss of 7q. In 23 of these 27 patients reviewed with loss of 7q, the common segment deleted involved 7q32 to 7q34 (Table). The most common abnormalities associated with -7 or 7q- were -5 or 5q- (26 cases) and monosomy 17 (16 cases); except for two patients, all of the latter also had -5 or 5q-. Fifteen of the 64 patients with -7 or 7q- had a secondary leukemia (23.4%). Other abnormalities, such as complete and partial trisomy 7 and various balanced translocations involving #7, were far less common. Only one of 16 cases had an associated 5q- chromosome, one was -17, and only one case had secondary leukemia.

Acute Disease↗
PubMed1984

Comparative in vitro cytotoxicity of volcanic ashes from Mount St. Helens, El Chichon, and Galunggung.

Dry sedimented volcanic ash samples from each of three widely separated volcanoes of the "Circum Pacific" region have been subjected to mineralogic analysis and in vitro tests for cytotoxicity. The ash samples from the three different volcanoes varied in particle size, surface area, and concentration of silica. Total crystalline silica in the respirable fraction of ashes was 1.5% (Mount St. Helens, Moses Lake); 1.36% (Galunggung, Bandung-1); 1.95% (Gallunggung, Bandung-2); and 1.72% (El Chichon, Tuxtla). Hemolysis as an index of cytotoxicity was measured by in vitro tests on sheep blood erythrocytes and indicated wide differences in hemolytic activity among ash samples. Alveolar macrophage cytosolic (lactate dehydrogenase) and lysosomal (beta-glucuronidase and beta-N-acetyl glucosaminidase) enzymes were measured as an index of cellular integrity following dust exposure. Hemolysis and release of enzymes from alveolar macrophages were greater with volcanic ash from Galunggung (Bandung-1) and El Chichon (Tuxtla) than the other ashes. Although crystalline silica induced an effect similar to volcanic ash from Galunggung (Bandung-1) on the release of enzymes from alveolar macrophages, the hemolytic potency of silica was much greater. Light and electron microscopic observations of dust-exposed alveolar macrophages indicated that the ash particles were readily phagocytized. These results indicate that volcanic ash is moderately cytotoxic and that exposure may lead to overt reactions and the exacerbation of preexisting chronic inflammatory processes.

Air Pollutants↗
PubMed1984

"Masked" Ph1 chromosome abnormalities in CML: a report of two unique cases.

Two patients with chronic myeloid leukemia (CML) showed previously undescribed variants of a "masked" Ph1 abnormality. The first patient had the karyotype 46,XY, + 21, -9, -22, +mar9,mar18 at presentation in the chronic phase. The dicentric marker 9 was interpreted as representing the usual translocation of 22q11 to 9q34, followed by translocation of the Ph1 chromosome (the deleted 22) to 9p and probable translocation of 9p to the distal long arm of the marker. The patient developed clones containing 2 and 3 copies of the "Ph1-containing" marker 9 concomitant with the metamorphosis of his disease to a more aggressive phase. The second case presented with the karyotype 46,XY,-9,-22,+two D-group markers. A complex rearrangement of chromosomes 9 and 22 is postulated, with interstitial insertion of either 9p or distal 9q into chromosome 22q11. This patient is still in the chronic phase of his disease 9 mo after presentation. The common denominator in these unusual "masked" cases is the 22q11 breakpoint. The paucity of published reports of duplication of 9q + without concurrent duplication of the Ph1 chromosome, supported by the findings in our first case, leads us to conclude that the amplification of genes on the Ph1 chromosome are more important for the evolution of the abnormal stem cell in CML than the chromosome 9 derivative.

Adult↗
PubMed1983

A 3-year cytogenetic survey of 9 661 patients in South Africa.

During the period 1 January 1977 - 31 December 1979, 9 661 patients underwent cytogenetic investigation at seven participating laboratories in South Africa. The chromosome data were coded using a standard protocol and the results tabulated, being listed according to the clinical signs which led to referral for investigation. Cytogenetic investigation was most commonly requested for prenatal studies, and 22% of the group's effort was directed towards this. One in 27 amniotic cell specimens was reported to have shown anomalous chromosomes, trisomy 21 being the most frequent abnormality. The majority of postnatal investigations were requested because congenital abnormalities suggested an underlying chromosomal defect. In 42,3% of 2 420 patients a chromosome defect was confirmed. Results of chromosome studies are tabulated by indication for referral and the findings summarized. This collaborative study gives an indication of the nature and frequency of chromosome disorders in South Africa.

Chromosome Aberrations↗
PubMed1983

Burkitt cell leukemia with abnormality of chromosome No. 1.

A case of L3 (Burkitt cell) leukemia with chromosome 1 abnormality but no detectable abnormalities of chromosomes 8 or 14 is reported. This is the first time that L3 leukemia has been shown to be associated with a primary abnormality of chromosome 1. The implications of these findings relative to the development of B-cell ALL and the role of chromosome 1 in human neoplasia is discussed.

Chromosome Aberrations↗
PubMed1983

Histocompatibility in cardiac transplantation with particular reference to immunopathology of positive serologic crossmatch.

Cardiac allografting was carried out in 33 patients during the past 2 years. Twenty-one (64%) of the patients are alive and others lived for different periods after transplantation. The number of HLA-AB and HLA-DR antigens matched or mismatched was not significantly different between the surviving and deceased patients. However, 100% (4 of the 4) of the patients with a positive serum crossmatch with donor T lymphocytes are deceased as compared to the 25% (7 of the 28) mortality rate for crossmatch-negative patients. All four of the deceased patients with a positive crossmatch had demonstrable deposition of immunoglobulins in the capillaries of the donor heart at autopsy, whereas no immunoglobulin or fibrinogen deposition was seen in the hearts of crossmatch-negative patients. Three of the four patients with positive crossmatches had sera cytotoxic to lymphocytes of more than 25% of the persons, of a 42 member panel, whereas in the remaining one the serum was cytotoxic to less than 5% of the panel members. In crossmatch-negative patients, the sera were cytotoxic to less than 20% of the panel members with one exception. The relevance of cytotoxic antibodies to lymphocytes of panel members, crossmatch, and tissue deposition of immunoglobulins is discussed.

Adult↗