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Biomedical subjects

A Bernheim

Publications and source records attributed to A Bernheim.

At least 163 records · Page 9Linked to original sources
PubMed1984

A simple device to obtain high local concentrations of material sorted by flow cytometry for biochemical or morphological analysis.

A system is described which allows us to collect flow cytometry sorted objects onto a very small area, thus obtaining very concentrated particles. For that purpose, collection is made directly on a nitrocellulose filter while a vacuum is established below the filter. By comparison with collection onto a microscope slide, the local concentration is increased about 1,000-fold. This efficient and simple system allows us to concentrate cell or cellular organelle populations for observation by microscopy of many objects in a single field, or to study the biological or biochemical properties of a small number of sorted particles.

Collodion↗
PubMed1984

Localization of actin-related sequences by in situ hybridization to R-banded human chromosomes.

Using a cytoplasmic actin cDNA probe we have localized a number of actin sequences in the human genome using a novel in situ hybridization technique. Metaphase chromosomes treated to produce R-bands were directly annealed with 125I-labeled actin probe. Under these conditions many regions of the genome were apparently denatured enough to be capable of hybridizing with the probe. Most of the actin sites detected in prior experiments using chromosome preparations, which had been completely denatured, were recognized in this experiment. The major advantage of this method over standard in situ hybridization techniques is the marked increase in the resolution of subregional localization.

Actins↗
PubMed1984

Flow cytometry isolation and improved visualization of sorted mouse chromosomes. Purification of chromosomes X and ISO-1 from cell lines with Robertsonian translocations.

While analysis and sorting of human chromosomes by flow cytometry has been widely used, isolation of a pure mouse chromosome remains very difficult, since most murine chromosomes are quite similar in size. To overcome this problem, we have analysed mouse cell lines having either Robertsonian translocations or isochromosomes. The resulting metacentric chromosomes are very different in size and in morphology from normal mouse acrocentric chromosomes. These characteristics have been analysed by computer-monitored flow cytometry, facilitated by improvements in the chromosome extraction procedure. Signals characteristic of the iso-lq chromosome in cell line PCC4 azaR1, and of the normal X chromosome in the mouse strain 22CD have thus been obtained. These chromosomes have been sorted and can be easily recognized by fluorescence microscopy when collected onto serum-albumin-coated microscope slides. The technical modifications made, coupled with the existence of a great diversity of metacentric chromosomes resulting from Robertsonian translocations, should allow the purification of a number of different mouse chromosomes.

Animals↗
PubMed1984

Cytogenetic studies on acute nonlymphocytic leukemias following polycythemia vera.

Chromosome studies were performed on 15 patients suffering from acute nonlymphocytic leukemia (ANLL) and in one patient in a preleukemic state following polycythemia vera (PV). Clonal chromosome abnormalities that were present in all cases were clearly nonrandom and involved chromosomes #1, #5, #7, #8, #9, #11, and #21. A subdivision of ANLL into two categories occurring in the course of PV is proposed from the clinical, hematologic, and cytogenetic data: one resembling de novo ANLL with rapid initial evolution, easy classification into one group of the FAB nomenclature, and simple chromosome abnormalities; the other resembling induced leukemia, often with more progressive initial evolution, difficulty or impossibility of classification into one group of the FAB nomenclature, and complex chromosome abnormalities. The consequences for the commitment level of progenitor cell from which the leukemic clones originate are discussed.

Acute Disease↗
PubMed1984

Chromosome studies in polycythemia vera patients.

One hundred thirty-five polycythemia vera (PV) patients (30 untreated by chemotherapy and 105 treated) were studied cytogenetically . The incidence of clonal chromosomal abnormalities was 20.7% (28 patients in nonleukemic phase). The incidence of 20q - was 3.7% (5 patients). The presence of cytogenetically abnormal clones did not allow prediction of the evolution of the disease. In a few cases, abnormal clones disappeared at the time of later studies. Although nonrandom, the majority of clonal chromosomal abnormalities are believed to be secondary events in PV patients.

Aged↗
PubMed1984

Malignant lymphomas with band 8q24 chromosome abnormality: a morphologic continuum extending from Burkitt's to immunoblastic lymphoma.

Chromosome abnormality involving band 8q24 is present in the malignant cells in virtually all 'Burkitt's' type malignancies. t(8;14)(q24;q32) translocations have nevertheless been found in certain cases of malignant lymphomas (ML) described as 'small non-cleaved non-Burkitt', 'immunoblastic' or 'histiocytic'. With a view to comparing objectively the histological picture of such lymphomas, we undertook morphometric analysis of seven cases of diffuse ML classed as 'Burkitt's' (three cases), 'immunoblastic' (two cases), 'small non-cleaved non-Burkitt' (one case) and 'large-cell lymphoma' (one case), all exhibiting band 8q24 rearrangement arising from various translocations. Our study substantiates the view that the histologic picture of MLs with 8q24 anomaly fits into a morphological continuum containing 'Burkitt's', 'small non-cleaved non-Burkitt' and 'immunoblastic' lymphomas.

Adult↗
PubMed1984

Acute monoblastic leukaemia. Clinical, biological data and survival in 45 cases.

Between 1978 and 1980, 45 cases of acute monoblastic leukaemia have been diagnosed, treated and followed in our institute. Morphological diagnosis was performed according to the French-American-British classification. Tumoral syndrome (particularly extra-medullary) and hyperleucocytosis were the most striking findings at the time of diagnosis. Cytogenetic analysis performed in 31 cases before treatment has showed that abnormality of the long arm of chromosome 11 seemed to be more frequently associated with the poorly differentiated cytological subtype M5 (a). Intensive chemotherapy with zorubicin and cytosine arabinoside led to complete remission in 75% of the cases. Central nervous system prophylaxis appeared definitively useful in preventing meningeal relapse. Despite a prolongation of the median duration of complete remission which now reaches 12 months, the prognostic is still poor.

Adolescent↗
PubMed1984

[Is there a functional equivalence between abnormalities of the long arm of chromosome 1 and the presence of Epstein-Barr virus in continuous lines of Burkitt's lymphoma?].

Chromosome 1 long arm abnormalities (translocations, partial of complete trisomies) are non-randomly but inconstantly associated with specific translocations involving chromosomes 8, and 2, 14 or 22 in Burkitt's lymphomas and leukemias. All nine Burkitt's lymphoma cell lines not associated with Epstein-Barr virus (EBV) were shown to exhibit a chromosome 1 long arm abnormality and were present in only 3 out of 18 EBV positive cell lines. Bands 1q23 - 1q24 were involved in EBV-negative cell lines. It was thus hypothesised that genetic information resembling that included in viral genome exists on chromosome 1 long arm. This hypothesis implies new possible aspects of relationship between Burkitt's cell line proliferation and EBV.

Burkitt Lymphoma↗
PubMed1984

Fourth International Workshop on Chromosomes in Leukemia 1982: Deletion of 5q.

In 36 cases with del(5q) examined, a type A2 deletion (q14 or q15q33) represented 56% of all cases, a type A1 deletion (q11 or q12q33) was present in 33%, and a type B deletion (q22q33) occurred in 11% of cases; therefore, all deletions were interstitial. The critical region for these cases was q22 to q33 or q34. Additional abnormalities were present in 85% of del(5q) cases; the most frequent additional abnormality was loss of one #7 (28%).

Acute Disease↗
PubMed1983

[Chromosome instability syndromes].

Chromosome instability syndromes are defined by either an increase of chromosomal breakage or by an increase of sister chromatid exchange number, or by an increase of the two. Bloom's syndrome, Ataxia telangiectasia, Fanconi's Anemia are the main components of this group. The incidence of cancers or malignant blood diseases is high. The finding of DNA repair abnormalities in some of them and their high sensitivity to particular mutagenic agents make these syndromes an interesting model for oncogenesis.

Anemia, Aplastic↗
PubMed1983

[Fanconi's anemia. Incidence of its development into leukemia].

Fanconi's anaemia (FA) is a hereditary disease transmitted in a recessive manner, characterized by congenital malformations and bone marrow aplasia. A high rate of chromosome breakage is observed in mitoses of cultured blood cells, but the caryotypes are normal. Forty-four patients (27 boys and 17 girls) were followed in the same department between 1962 and 1976. Most were treated with androgens, sometimes combined with corticosteroids. Nine patients died of acute granuloblastic leukaemia, with more than 25% bone marrow blasts; in three of these, cytogenetic examination showed clonal anomalies. Five patients were in preleukaemic state with non-blastic bone marrow; 4 showed clonal anomalies and 2 of these died of aplasia; the 5th patient had gross liver and spleen enlargement and died of haemorrhage. Among the 30 remaining patients 12 are still alive and 18 died of cerebral haemorrhage (7), hepatic failure (3), cardiac failure (1), pancreatitis (1), septicaemia (2) or graft-versus-host reaction after bone marrow transplantation. One patient transplanted 4 years ago has complete chimerism and is still alive without treatment. The incidence of leukaemic or preleukaemic state in this series was 30%, while no case of leukaemia was observed in 200 patients with acquired aplastic anaemia. Neither parents norsibship had leukaemia. Androgen treatment apparently did not increase the risk of leukaemia which developed within 1 to 13 years (mean = 5 years) of the diagnosis, was preceded by a 2 1/2 year long preleukaemic state with clonal chromosomal anamolies and invariably was of the granulocytic type. None of the patients developed cancer. The median survival in this series was 4 1/2 years.

Acute Disease↗
PubMed1983

Cytological types of mitoses and chromosome abnormalities in acute leukemia.

In order to determine the nature of the cells in mitosis in acute leukemia, a parallel study was conducted by cytological and cytogenetic methods on the same marrow and blood samples. On direct marrow examination, erythrocyte precursors in mitosis are usually observed but ordinarily disappear following in vitro culture. In APL (M3) characterized by t(15;17) translocation, the comparison between the proportions of the different categories of cells in mitosis and of karyotypically normal and abnormal cells suggests that erythroblasts do not belong to the leukemic clone. An analogous situation is observed in AML (M2) with t(8;21) and in monocytic leukemia (M5) with chromosome abnormalities. Erythroleukemia could be divided into two categories, one with chromosome abnormalities and persistence of erythroblast mitoses after culture, and another with no detectable chromosome abnormality and with disappearance of erythroblast mitoses following culture. Other examples of blood malignancies demonstrate the importance of the method used in determining which cell categories belong to the leukemic clone. An interpretation of the results in terms of commitment 'level' of the involved stem cells and a distinction between 'primary' and 'secondary' chromosome abnormalities is proposed.

Acute Disease↗
PubMed1983

C-band pattern in lymphocytes of patients with soft tissue sarcomas.

The pattern of heteromorphisms in the C-band-positive constitutive heterochromatin of human chromosomes No. 1, 9, and 16 was studied in peripheral lymphocytes of 45 patients with soft tissue sarcomas and 78 control individuals. The parameters of the heterochromatic regions analyzed were relative size, symmetry-asymmetry within homologous pairs, and incidence of inversions. No consistent differences were found in these parameters between controls and sarcoma patients.

Chromosome Banding↗
PubMed1983

t(15;17) in a promyelocytic form of chronic myeloid leukemia blastic crisis.

Two simultaneous translocations, t(15;17) and t(9;22), have been observed in a chronic myelogenous leukemia patient with acute promyelocytic blastic crisis. After remission obtention only karyotypes with t(9;22) were present. The occurrence of the two translocations in the same cell argues in favor of the specificity of t(15;17) versus acute promyelocytic differentiation.

Adult↗