Biomedical subjects
Publications and source records attributed to H Van Den Berghe.
The Dubowitz syndrome has been recognized during the past few years as a new, distinct intrauterine growth-retardation syndrome with autosomal recessive inheritance. One new patient is presented, a 10 1/2-year-old slightly mentally retarded girl.
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Four patients with multiple myeloma in whom a Ph1 chromosome was found were described; 1 patient had a (9;22) translocation, 2 had no evidence of a translocation, and 1 had a complex translocation (3;8;22). Ph1 chromosomes with standard (9;22) or with unusual translocations were recently found in various myeloproliferative disorders (other than chronic myelogenous leukemia) and in acute lymphoblastic leukemia. These findings point to the genesis of a Ph1 chromosome in diseases other than chronic myelogenous leukemia and other myeloproliferative disorders.
Two elderly women had acute myelogenous leukemia with rapidly fatal course. On initial marrow and unsttimulated blood examination, the 5q- chromosome and additional number and structural chromosome analomalies were observed. The specificity of these findings is discussed.
Immunochemical and functional properties of control and Cystic Fibrosis (CF) alpha 2-Macroglobulin (alpha 2M) are compared. Crossed immunoelectrophoresis and Ouchterlony double diffusion revealed no qualitative differences between the two alpha 2-M preparations. Trypsin-esterase activity assayed with BAPNA as a substrate, in the presence of an excess STI, gave similar ratios between total and active alpha 2M. These alpha 2M-trypsin complexes were equally stable under various experimental conditions and maintained a constant STI non-inhibited esterase activity. Normal and CF-alpha 2M-trypsin complexes were taken up by normal human fibroblasts to a similar extent during a four hour period. The only significant difference was observed when the uptake of alpha 2M from untreated sera was examined. The uptake of alpha 2M from CF sera was always lower than from pooled control sera despite large variation. Mixing of control and CF serum did not affect the normal uptake and other serum components were taken up to the normal extent. Intracellular degradation of CF alpha 2M had a half life of 2.0 to 2.8 hours, which compares well to the normal half life of 2.2 hours. More work needs to be done on the nature of the interaction between alpha 2M and proteases before a reasonable explanation for the molecular nature of the abnormal behavior can be sought.
In previous investigations, we have shown that aggregates of normal human fibroblasts displayed a remarkable number of morphogenetic properties in suspension and on a substratum. The present investigation has attempted to illustrate more clearly the role of colchicine- and cytochalasin-sensitive structures in the observed ultrastructural properties of the fibroblasts in this system. Cytochalasin B and colchicine alter the surface ultrastructure of the cells as well as the behaviour of the cells during aggregate outgrowth. In addition, the effects of both drugs on the cells in the aggregates are modulated by the attachment of the aggregates to a substratum.
A malformed male newborn with partial trisomy for the distal part of the long arm chromosome 14 (14q23 leads to 14 qter) is described. This anomaly arose as a segregation product of a balanced t(14q-,11q+), translocation in the father.
Whereas Concanavalin A (Con A) and Wheat Germ Agglutinin (WGA) detect differences in the agglutinability of transformed, established and secondary cultures, Phytohemagglutinin (PHA) detects differences between cultured adult and fetal human fibroblasts. Adult cells agglutinate with PHA to the same extent as transformed cells, whereas fetal cells show significant agglutination only after trypsinization. Differences in cell size, growth rate, surface architecture or binding of fluorescent PHA could not be demonstrated between adult and fetal cells. Although the basis for this apparent difference in agglutinability remains unknown, it is the first demonstration that fetal cells (even after prolonged in vitro culture) retain at least some surface properties not shared by adult or transformed cells.
A system for machine assisted karyotyping and chromosome analysis has been developed. The system uses a drum- or TV-scanner as input device, runs provisionally in 32 K memory, and also allows human interaction on several stages. The accuracy with which banded chromosomes are karyotyped depends strongly on the type of classifier and varies from 40 up to 80%. The accuracy of the human assisted classifier (98%) comes close to that of a skilled technician (99.5%) using manual chromosomal analysis. Due to technical and memory limitations, the time necessary for the karyotyping of one cell is too long and depends on the interaction time; however karyotyping within 5 min, including human interaction, will be possible in the near future.
The different stages during aggregation of diploid human skin fibroblasts have been examined by transmission and scanning electron microscopy. As a result of aggregation, fibroblasts form a complex tissue configuration. Numerous intercellular junctions can be observed, while the cells remain polygonal and do not develop an organised intracellular cytoskeleton. Cell division occurs only rarely. After aggregation, signs of progressive auto-digestion develop. Adhesion to a substrate results in outgrowth of the cells and monolayer formation, even when extensive cell damage had occurred. The morphology of fibroblasts in aggregates and in the monolayers, from which they were derived is compared and the contribution of the aggregate system to the study of fibroblast behavior is discussed.
Five patients, four women and one man, age 32-8- yr, all whites, had refractory anemia with the same abnormal bone marrow karyotype, i.e., a partial deletion of the long arm of the No. 5 chromosome. The hematologic syndrome was practically the same in these five cases. Examination of the blood revealed a moderate to severe, generally macrocytic anemia with slight leukopenia but normal or elevated platelet count. The bone marrow showed a depressed erythroid series and some abnormalities of the granulocytic series with an occasional excess of myeloblasts. Most of the megakaryocytes had a nonlobulated nucleus. These features, as well as cytogenetic, electron microscopic, isotopic, platelet function, and immunologic studies, are described in detail. The relationship of this newly established syndrome to other hematologic diseases is discussed. The syndrome constitutes another example of the association between a specific abnormal chromosome and a distinct hematologic disorder.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
This study was devoted to the simultaneous examination of the karyotype and the bone marrow histology in 33 patients suffering from chronic myeloid leukemia with the Ph1 chromosome. Some patients were evaluated in the beginning of the disease, others after evolution and treatment and some at both times. Supplementary abnormalities of the karyotype occurred in some patients before any treatment, but in most after evolution and treatment. The abnormalities encountered consisted in hypodiploidies, modifications of chromosome structure and hyperdiploidies. The additional abnormalities of the karyotype were in the majority of the patients accompanied by a bone marrow histology characterized by more pronounced blastic infiltration and precollagen fibrosis and evidence of bone lesions. The picture realized by the karyotype and the bone marrow histology allows a better evaluation of the evolution and the prognosis is individual cases, especially of the likely hood of the acute blastic transformation.