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Biomedical subjects

F Shabtai

Publications and source records attributed to F Shabtai.

51 records · Page 3Linked to original sources

Risk of malignancy and chromosomal polymorphism: a possible mechanism of association.

A significantly increased incidence of heterochromatic chromosomal variants, particularly of A1 and C9, has been found in a group of 120 patients with malignant or premalignant diseases. People presenting with such a kind of polymorphism usually have an increased chromosomal breakage rate. Genetically increased susceptibility to breaking agents may be the unifying concept explaining the increased incidence of heterochromatic variants found in couples with sterility or abortions, in karyotypically normal malformed or retarded children, and in patients suffering from different malignant or premalignant diseases. Chromosomal imbalance is probably the basis for initiation of malignancy whose development is influenced by many different factors.

Adolescent↗

Triple mosaicism 45,XY,--18/46, XY/47,XY,+18.

A patient with symptoms clinically resembling Edwards's syndrome is presented. Cranial asymmetry, thoracic and lumbar hemivertebrae, and an additional rib were the unusual features. The cytogenetic studies revealed the coexistence of three separate cell lines with 45,XY,--18/46,XY/47,XY,+18 complement.

Chromosomes, Human, 16-18↗

A new cytogenetic aspect of polycythemia vera.

The cytogenetic findings in a group of 15 polycythemic patients are reported. G and C banding techniques were used on bone marrow and peripheral blood preparations. Major chromosomal aberrations were found in four out of the 15 patients, an incidence similar to that found in other studies on polymorphism. The most interesting finding concerned the chromosomal polymorphism of the pair 19. A possible relation to the etiology of the disease is discussed.

Adult↗

Cytogenetic observations in infertile men working with insecticidal compounds.

The negative influence of some insecticides on male fertility has been noted. We report our cytogenetic observations on a group of infertile insecticide workers. Increased chromosomal breakage was a constant finding and the Y chromosome was especially damaged. This may account for impaired spermatogenesis. Furthermore, the involvement of heterochromatic chromosomal variants both in the individual susceptibility to the chemically induced damage and in the reproductive fitness is emphasized.

Antispermatogenic Agents↗

Transmission and scanning electron microscopy study on plasma cell leukemia.

The peripheral blood cells of a patient with acute plasma cell leukemia were examined with transmission (TEM) and scanning (SEM) electron microscopes. The TEM features of the immature plasma cells comprised lobulated and irregulary shaped nuclei, with scanty heterochromating and bizarre nucleoli, parallel arrays of endoplasmic reticulum, cytoplasmic fibrils and numerous polymorphic mitochondria. SEM examination of the cells showed long, thin irregular ruffles, or round blebs on the cell surface, with appearance different from this observed on other types of leukemia. A remarkable clinical and hematological remission was achieved with administration of melphalan and steroids.

Acute Disease↗

Primary amenorrhea with a new mosaic 46,XXqi/47,XXqi Xp-. Consideration on the X isochromosome formation and X chromosome inactivation.

A case of Turner's syndrome was found to be 46,XXqi/47XX,qi Xp-, a new mosaic. The origin of such a mosaic, the formation of the Xq isochromosome using the C-banding technique, and the X chromosome inactivation are discussed. The Xq isochromosome was apparently monocentric, but probably with two strictly close centromeres. The inactivated X seemed to be the Xqi or the normal X alternatively.

Adult↗

Ph1-positive acute lymphocytic leukemia with chromosome 7 abnormalities.

A 56-yr-old woman with acute lymphocytic leukemia showed the presence of a Philadelphia chromosome in 90% of the bone marrow metaphases and in 10% of the peripheral blood metaphases. Part of the long arm of a G22 chromsome was translocated to the long arm of a C9 chromosome. A second cytogenetic abnormality was found in chromosome 7. Monosomy 7 was found in 60% of the marrow and in 20% of the peripheral blood metaphases. Chromosome 7q- was also found in a small percentage of the metaphases examined. Three months later, when the patient was in partial remission, only 10% of the marrow cells showed chromosome 7 monosomy and a Ph1 chromosome. During complete remission, no chromosomal abnormalities were found, except for a high breakage rate. The finding of a Ph1 chromosome in acute lymphocytic leukemia indicates that different precursors, both granulocytic and lymphocytic, may be involved in the Ph1 process.

Cell Transformation, Neoplastic↗

An unusual case of hemoglobin Bart's hydrops fetalis.

A baby with alpha-chain thalassemia hydrops fetalis was born to an Iraqian Jewish couple of Iraqi-Kurdish extraction. Hemoglobin Bart's constituted only 40% of the total hemoglobin, much less than usually found in alpha-thalassemia hydrops fetalis. That this is a particular expression of hemoglobin H disease is considered. The likelihood of two alpha-chain loci, rather than one alpha-chain locus, in this family, is also discussed.

Edema↗

Fragile X expression in Martin-Bell syndrome, intellectually normal individuals, and neoplasia, interpreted by a viral hypothesis.

We present data on fragile X expression in lymphocytes obtained from the following patients: a university student, an infertile couple, 6 of 22 prostatic cancer patients, a meningioma patient, and members of families with meningioma and familial gliomas. All patients were of normal intelligence. In addition, we report 3 cases of central nervous system (CNS) tumors in more typical fragile X families. We suggest that the fragile X expression as well as the clinical findings may be caused by a viral (or similar) infection. The virus may require a receptor protein coded by one allele of a gene on the X chromosome.

Chromosome Fragility↗

Cytogenetic studies in patients with gastric cancer.

Banded cytogenetic studies of gastric carcinoma are still relatively scarce, comprised of only a small number of patients. This study was performed on peripheral blood lymphocytes and malignant cells of 16 patients with gastric carcinoma. The lymphocytes were analyzed by standard techniques. All patients had a normal constitutional karyotype; 90% of the patients presented an increased breakage rate and nonrandom chromosomal instability mainly in the heterochromatic regions of chromosomes 1, 9, and 16. Decreased response to phytohemagglutinin was observed in 6 (38%) patients. The tissue specimens were analyzed using direct techniques. Normal ploidy was observed in only one patient, 3 tumors were near-diploid, 4 hyperdiploid, 4 near-triploid, and 4 near-tetraploid. Those with the near-triploid or near-tetraploid constitution were in a more advanced pathological stage, most of them with a more complex cytogenetic profile. Particular involvement was found for chromosomes 1 to 4, 7 to 9, 17, and 20, but the more specific nonrandom changes seemed to involve chromosomes 7, 8, 9, and 17.

Adenocarcinoma↗

Chromium chloride induces chromosomal aberrations in human lymphocytes via indirect action.

The aim of this study was to examine the possible clastogenic effects of trivalent chromium chloride (CrCl3) as the results in the literature are non-conclusive. Under the conditions used in this study Cr(III) induces chromosomal aberrations in phytohemagglutinin(PHA)-stimulated human lymphocytes. This activity, however, is suppressed by the antioxidants superoxide dismutase (SOD) (scavenger of O-.2), the SOD-like agents, catalase and mannitol (specific scavenger of OH.). The possibility that oxygen free radicals could evolve through stimulation of the arachidonic acid cascade is suggested using suitable inhibitors.

5,8,11,14-Eicosatetraynoic Acid↗

Leber's optic neuropathy--a cytogenetic study of a family.

The present report describes a family with Leber's optic neuropathy. The cytogenetic findings in this family, as well as some clinical features, are suggestive of a slow viral infection with vertical transmission as a possible cause of the disease.

Adolescent↗

Juxta-centromeric fragility of chromosomes 1, 2, 9, 16, and immunodeficiency. Special reference to the fragility of chromosome 2 and its oncogenic potential.

Juxta-centromeric fragility of chromosomes 1, 2, 9, 16, has been described at least thrice in unrelated patients in association with combined immunodeficiency. This association has been confirmed by our findings in both immunodeficient and cancer patients. In our opinion, both the fragility and the immunodeficiency are the results of persistent viral infections by certain DNA (i.e.: Herpes-, Papova-) viruses or RNA (retro-) viruses (i.e. HTLV), which are lymphotropic. The immunodeficiency may be due to virus-cell, cell to cell, or virus-virus interactions. According to our findings, centromeric fragility of chromosome 2 appears to have a particular oncogenic potential probably because of its location in proximity to immunoglobulins genes. We suggest that centromeric fragility of chromosomes 1, 2, 9, 16, may be one of the symptoms of an incipient Acquired Immunodeficiency Syndrome (AIDS) which will not necessarily develop fully.

Acquired Immunodeficiency Syndrome↗