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

13 children with ataxia-telangiectasia were followed for 6 years. Unlike previously reported cases, these patients had progressive, debilitating neurological disease and slight pulmonary or infectious symptoms. Immunological dysfunction was variable and endocrinological defects were absent. Oculomotor findings, alpha-fetoprotein levels, and the incidence of chromosomal breakage were the most consistent parameters in the diagnosis of the condition. This disease should be considered in any patient with chronic ataxia, regardless of immunological findings or whether he has a history of infections.
Arch Dis Child 1979 Sep
PMID:Diagnostic considerations in ataxia-telangiectasia. 9 14

Disturbances of the eye movements are described in 2 brothers with ataxia telangiectasia (Louis Bar): pathological smooth pursuit and command movements of the eyes (hypometry) with a preseved doll's phenomenon, increased reaction times of voluntary saccades, failure of gaze holding, gaze nystagmus, altered optokinetic nystagmus, and distinct convergence defect. These oculomotor defects are the result of cerebellar lesions. The E.N.G.-findings in pathologically changed pursuit movements are in accordance with those disturbances of eye movements shown by Westheimer and Blair in cerebellectomized monkeys.
Klin Monbl Augenheilkd 1978 Sep
PMID:[Oculomotor signs in cerebellar disease shown in ataxia telangiectasia (Louis Bar) (author's transl)]. 10 55

A new method for the preparation of cell suspensions from human newborn kidneys is described. It involves the use of a mixture of trypsin-ethylenediaminetetraacetic acid and collagenase. The cell yields obtained after tissue dispersion by this method were significantly greater than those obtained after dispersion with either trypsin or ethylenediaminetetraacetic acid alone or in combination. When kidneys were removed 12 h or more postmortem from refrigerated cadavers, higher cell yields were obtained from renal tissue stored overnight at 4 to 6 C in CMRL ATM (Healy and Parker, 1966), as compared to cell yields obtained from kidneys processed immediately upon removal. This observation was confirmed by controlled experiments performed with rabbit kidneys.
J Clin Microbiol 1975 Sep
PMID:Dispersion and cultivation of renal cells after short-term storage of kidneys. 17 Mar 18

The neuropathologic findings in a 31 year old patient with ataxia-telangiectasia are presented. There was an unusually severe and widespread distribution of the recognized abnormalities within the nervous system. In addition, there were Lewy bodies in the substantia nigra and widely distributed vascular changes in cerebral tissue. The nature of the vascular changes is discussed. These findings underline and expand the known spectrum of nervous system involvement in this condition.
J Neuropathol Exp Neurol 1979 Sep
PMID:Ataxia-telangiectasia. Report of a case with Lewy bodies and vascular abnormalities within cerebral tissue. 22 49

Ataxia telangiectasia has been described as a single-gene autosomal recessive disorder. It affects multiple systems. Several attempts to present an etiological hypothesis that will account for the multisystem involvement have been made. Those reviewed haer are (1) aberration of inductive signaling, which is predicted on a deficient mesoderm, leading to vascular and thus multiorgan effects (a critical timing of events is a basic assumption); (2) developmental imbalance, based on multisystem supression of embryological development; (3) the autoimmune hypothesis, which requires the presence of a cell surface antigen on thymic and nerve cells analogous to the thy 1.1 antigen of mouse and rat. The development of cytotoxic autoantibody to this antigen is postulated as an explanation of the pathogenesis.
Arch Neurol 1978 Sep
PMID:Ataxia telangiectasia. 68 81

The clinical and pathological features are described in a child with ataxia-telangiectasia, complicated by fatal disseminated herpes simplex virus infection. Herpes simplex virus was isolated from the patient's blood, and the histopathological findings in the skin, liver and adrenals were consistent with herpes simplex virus infection. The patient had a combined immune deficiency state, as a part of the ataxia-telangiectasia syndrome. She had imparied cellular immune response to herpes simplex virus and developed no antibodies against the virus. To our knowledge, this is the first fatal case of disseminated herpes simplex virus infection in ataxiatelangiectasia.
Acta Paediatr Scand 1978 Sep
PMID:Disseminated Herpes simplex virus infection in ataxia-telangiectasia. 69 12

The presence of antibodies to native DNA, single-stranded DNA, and double-stranded RNA was determined for 37 patients with selective IgA deficiency, 11 patients with Wiskott-Aldrich syndrome, seven patients with common variable agammaglobulinemia, 14 patients with ataxia telangiectasia, six patients with intestinal lymphangiectasia, and one patient with Nezelof syndrome. Of 37 patients with selective IgA deficiency, 11 had antibodies to at least one nucleic acid; six had antibodies to native DNA, seven had antibodies to single-stranded DNA, and four had antibodies to double-stranded RNA. The only other congenital immune deficiency disease studied in which antibodies to nucleic acids were found was the Wiskott-Aldrich syndrome; in this group three of 11 patients had antibodies to native DNA. Retrospective analysis of our patients with SLE disclosed a 2.6% prevalence of IgA deficiency, a prevalence clearly higher than in the general population. These studies provide further evidence of the association between autoimmunity and abnormalities of IgA production and suggest a relationship between thymic-derived immune regulation and IgA production.
J Pediatr 1976 Sep
PMID:Antibodies to nucleic acids in congenital immune deficiency states. 108 51

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.
Humangenetik 1975 Sep 20
PMID:Apparent "in situ" clone of cytogenetically marked ataxia-telangiectasia lymphocytes. 110 28

Cytogenetic observations on seven cases of ataxia telangiectasia are presented. The aberration frequency was found to be increased in all of them with a specificity for the involvement of the D-group chromosomes in rearrangements. Clones of cytogenetically abnormal cells were observed in the lymphocytes of three cases and in the cultured skin fibroblasts of two cases, again with a specificity for D-group involvement. G-banding shows that chromosome 14 is frequently involved in rearrangements in clone cells and that the band 14q12 may be a highly specific exchange point. The significance of lymphocyte clones with a proliferative advantage in vivo is discussed. Cytogenetic studies of the parents and sibs of these cases are also reported.
J Med Genet 1975 Sep
PMID:Specific chromosome aberrations in ataxia telangiectasia. 117 76

On the basis of biochemical and autoradiographic studies it has been shown that the inferior olivary nucleus (ION) contains predominantly angiotensin II (Ang II) receptors of the subtype 2 (AT2). In the present investigation we used microiontophoretic techniques to test the effect of Ang II on the spontaneous firing rate of rat neurones in the ION in vivo. Ang II excited the majority of histologically identified ION neurones. Furthermore, the antagonism of this angiotensin-induced excitation by selective angiotensin receptor blockers of subtype 1 and 2 (AT1 and AT2) was examined. The excitation could be blocked by low doses of the AT2-antagonists PD 123177 and CGP 42112A, whereas the AT1-antagonist DuP 753 was ineffective even at high doses. On a few occasions, however, ejection of the AT1-antagonist resulted in a potentiation of angiotensin-induced excitation. The results suggest that Ang II has an excitatory effect on a considerable number of ION neurones and that this effect is mediated by AT2-receptors.
Regul Pept 1992 Sep 03
PMID:Effects of angiotensin II and its selective antagonists on inferior olivary neurones. 133 23


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