Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The surface of lymphocytes obtained from fresh biopsy specimens from 41 patients with malignant lymphoma and from 30 normal subjects or patients with non-neoplastic lymphadenopathy were investigated. Immunoglobulin on the cell surface was used to identify B cells, whereas T cells were recognized by their reactivity with an antithymocyte antiserum and their ability to form rosettes with sheep erythrocytes. Normal and inflammatory lymph nodes were composed predominantly of T lymphocytes, as were nodes from 14 patients with Hodgkin's disease. Two thymomas were T cell proliferations, whereas a node from a patient with ataxia-telangiectasia was devoid of T lymphocytes. The presence of immunoglobulin on the cell surface indicated that 19 of 21 lymphocytic lymphomas were B cell proliferations, whereas the cells from 3 histiocytic lymphomas (reticulum cell sarcomas) and 1 mixed histiocytic and lymphocytic lymphoma were devoid of surface immunoglobulin. In immunoglobulin-positive tumors, one predominant heavy chain and one predominant light chain could usually be identified, thus establishing the clonal character of the neoplastic proliferation. Ten of 11 diffuse poorly differentiated lymphocytic lymphomas were composed of cells with large amounts of surface immunoglobulin, whereas only 1 of 5 diffuse well differentiated lymphocytic tumors contained such abundant surface immunoglobulin. The surface immunoglobulin data indicate the existence of at least two subspecies of B cell neoplasms. A small lymphocyte with sparse surface immunoglobulin proliferates as diffuse well differentiated lymphocytic lymphoma and chronic lymphocytic leukemia, whereas a larger lymphocyte with abundant surface immunoglobulin proliferates as diffuse poorly differentiated lymphocytic lymphoma and lymphosarcoma cell leukemia.
 ...
PMID:Lymphocyte surface characteristics in malignant lymphoma. 109 Jan 57

Although an isolated clinical case report was published in 1926 and another in 1941, ataxia-telangiectasia (A-T) was not established as a distinct entity until 1957, when it was first delineated clinicopathologically. Susceptibility to sinopulmonary infection was identified as the main cause of death and as the third major component of the syndrome; its heredofamilial nature was documented, and it was designated "ataxia-telangiectasia." In a later review of 101 published cases, lymphoreticular malignancy emerged as the second most frequent cause of death. Although the thymus was found to be absent in the first reported autopsy in 1957 and the serum IgA deficiency was first recorded in 1961, A-T was not established as an immunodeficiency disease until 1963. Thymic abnormality and dysgammaglobulinemia explain the 2 main causes of death, sinopulmonary and neoplastic, but the immunodeficiency is probably not the central defect. It does not appear to explain either of the 2 main clinical diagnostic keys, the ataxia and the telangiectasia, or any of the other seemingly unrealted multisystemic facets of this complex disorder. Some of our most provocative long-term clinical observations and recent pathologic findings in our series of 9 autopsies are discussed.
 ...
PMID:Ataxia-telangiectasia: some historic, clinical and pathologic observations. 109 82

Six adjacent metaphases, each with the same cytogenetic aberration of a group D chromosome, most probably a No. 14, were observed in a field of a slide from a 96-hour culture of lymphocytes from an individual with ataxia-telangiectasia (AT). None of the 304 other metaphases examined from this or other simultaneous cultures of this individual showed such an aberration. It seems most likely that an "in situ" marked clone has been observed and this supports interpretation of consistent cytogenetic abnormalities in those with AT as having clonal origin. The method of slide preparation employed which involves placing, rather than dropping, the cell suspension on the slide may facilitate detection of "in situ" clones.
 ...
PMID:Apparent "in situ" clone of cytogenetically marked ataxia-telangiectasia lymphocytes. 110 28

Employing the surface immunofluorescence technique and rosette test, surface receptors of lymphocytes from 83 healthy subjects (57 adult donors and 2l infants), 3 mature fetuses, and 110 patients, including 23 infants with acute repiratory infections, 22 patients with multiple sclerosis (MS), 20 patients with viral hepatitis (VH), 22 patients with chronic brucellosis, and 1 patient with ataxia-telangiectasia lacking serum IgA were studied. Surface immunoglobulins complement-receptor lymphocyte (B lymphocytes), rosette formation with uncoated sheep erythrocytes (T lymphocytes), and receptor for Fc IgG, characteristic mainly of B lymphocytes, were determined. Percentages of B lymphocytes in peripheral blood of adults (21%) and infants (about 24%), T lymphocytes in adults (about 70%) and infants (about 52%) were determined. On the surface of lymphocytes from adults, IgM predominated, followed by IgG, and IgA was least frequent. In acute upper respiratory tract infections in infants percentages of B lymphocytes in peripheral blood were markedly increased. Glucocorticoids used in treatment exerted a distinctly suppressive effect on these cells. In multiple sclerosis the number of cells with receptors for complement and density of receptors for Fc IgG on the surface of lymphocytes were decreased. In acute viral hepatitis, no significant changes in the contents of B and T lymphocytes in peripheral blood were noted. In chronic brucellosis, the numbers of T lymphocytes were decreased, and atypical mononuclear cells with partial lack of receptors typical of B lymphocytes were observed. The findings indicate that in diseases based on bacterial or viral infections and in multiple sclerosis, B and T lymphocytes play an essential role, which is reflected by the percentages of B and T lymphocytes in peripheral blood.
 ...
PMID:Immunologic heterogeneity of the lymphocyte surface in various diseases. 110 13

The lymphocytic transformation in vitro has been studied in 2 cases of ataxia-telangiectasia and compared to that of 2 controls. Significant difference was found between the two groups in the behavior of lymphocytes for two different times of culture. After 48 hrs culturing, important individual variability in RNA synthesis and lower per cent of cells in mitosis was found in the first group. After 120 hrs culturing less important DNA synthesis was found in the first group and about the same per cent of cells in mitosis. After 48 hrs cultures, cellular damage was found in the first group and after 120 hrs cultures, chromosome anomalies were found in the first group.
 ...
PMID:In vitro lymphocytic transformation chromosome breakage and cellular damage in Ataxia-Telangiectasia. 113 79

Studies of IgE deficiency and IgE levels in selective IgA deficiency and ataxia-telangiectasia are reviewed. Isolated IgE deficiency and combined IgE-IgA deficiency do not predispose individuals to recurrent respiratory tract disease. In contrast, IgA-deficient patients with normal or elevated levels of IgE frequently have recurrent respiratory infections. Although IgE deficiency and combined IgE-IgA deficiency occur frequently in ataxia-telangiectasia, these deficiences do not appear to play a primary role in the pathogenesis of sinopulmonary disease in these patients. These observations are discussed in relation to recent evidence concerning the regulation of the IgE-antibody response.
 ...
PMID:The relationship of IgA and IgE deficiency. 114 79

Using the slightly modified method of Golgi-Valenzuela we studied the cerebellum of 2-week-old dogs. We noted a close anatomical relationship between the cerebellar grains and blood vessels. We found this similar to those of other neuroglial elements. We have described contacts between dendrites of the grains, similar to those of known synaptic junctions. We consider the cerebellar grains as a possible evolutionary form of astrocytes. In this respect, the author would like to interpret them as a possible basis for pathogenetic interpretation of neurological disorders such as ataxia-telangiectasia syndrome, an ontogenic bond between undifferentiated blood elements, astroglia, oligodendroglia and cerebellar grains.
 ...
PMID:Connections of the cerebellar grains with neuroglial and vascular structures. Interpretation of the grain as a modified neuroglial element. 116 3

Although neoplasms are unusually frequent in patients with ataxia-telangiectasia, the occurrence of primary tumors of the ovary in such patients is exceedingly rare. This report describes a 17-year-old phenotypic female with ataxia-telangiectasia, who was found to harbor an ovarian gonadoblastoma and a contralateral dysgerminoma. The latter tumor has occurred in only one other patient with ataxia-telangiectasia, while an association with gonadoblastoma has never been documented previously. Additional unusual features rarely encountered in patients with gonadoblastoma included origin of the tumor within a histologically proven ovary, and a 46,XX karyotype. The possibility that the dysgerminoma also arose from a gonadoblastoma is discussed.
 ...
PMID:Ataxia-telangiectasia with ovarian gonadoblastoma and contralateral dysgerminoma. 119 68

Chromosomal studies were performed on peripheral blood lymphocytes and cultured skin fibroblasts from five Israeli-Moroccan families with ataxia-telangiectasia. A total of 24 individuals, including seven propositi, was investigated. Among the probands, significantly elevated rates of chromosome damage were observed in both blood and skin. Skin fibroblasts of affected individuals showed several orders of magnitude more chromosome breakage than lymphocytes. Increased rates of chromosome damage were also observed in the fibroblasts of some phenotypically normal family members (obligate heterozygotes and sibs) when compared to normal controls. An apparent abnormal clone of cells, possessing a large acrocentric marker chromosome (14q+), was observed in varying proportions among cells of all the propositi (2-5% of lymphocytes; 1-9% of fibroblasts).
 ...
PMID:Cytogenetic investigations in families with ataxia-telangiectasia. 122 88

Ataxia telangiectasia (AT) is a multiform genetic disease characterized by immunodeficiency, cerebellar abnormalities, and cancer predisposition. Heterozygotes also have an increased risk of developing several different cancers. It has been estimated that as many as 18% of all patients with breast cancer, the cancer most clearly associated with AT heterozygotes, may be carriers of the AT gene. We describe an assay for AT heterozygotes that relies on the previous observation that cells from AT homozygotes show a greater and more prolonged radiation-induced accumulation in the G2 phase of the cell cycle than do normal controls. We showed that all 6 A-T heterozygotes show a greater extent of G2 phase delay at different times postirradiation than do controls. The degree of accumulation was less than that observed in AT homozygotes. Only two of 22 controls showed overlap with heterozygotes at 18 hours postirradiation, and that number was reduced to one at the 24-hour point. As a group, AT heterozygotes were intermediate between controls and AT homozygotes at both time points after irradiation. This assay is relatively simple and reliable and can be performed in any laboratory with access to both Epstein-Barr virus (EBV) for transformation of lymphocytes and a fluorescence-activated cell analyzer.
 ...
PMID:Enhanced levels of radiation-induced G2 phase delay in ataxia telangiectasia heterozygotes. 131 83


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>