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Results for “Telangiectasia”

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At least 19 recordsLinked to original sources

PubMed2001

Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

We have assessed several ataxia Telangiectasia mutated (ATM)-dependent functions in cells derived from ataxia telangiectasia patients, carrying either an ATM 5762ins137 splice site or a 7271T-->G missense mutation, with a less severe phenotype compared with the classical disorder. ATM kinase in vitro, from 5762ins137 cells, showed the same specific activity as ATM in normal cells, but the protein was present at low levels. In contrast, mutant ATM kinase activity in the 7271T-->G cells was only about 6% that of the activity in normal cells, although the level of mutant protein expressed was similar to normal cells. Phosphorylation of the DNA double strand break repair proteins Nbs1 and hMre11, following DNA damage, was observed in normal and 7271T-->G cells but was almost absent in both 5762ins137 and classical ataxia telangiectasia cells. The kinetics of p53 response was intermediate between normal and classical ataxia telangiectasia cells in both the 7271T-->G and 5762ins137 cells, but interestingly, c-Jun kinase activation following DNA damage was equally deficient in cell lines derived from all the ataxia telangiectasia patients. Our results indicate that levels of ATM kinase activity, but not induction of p53 or c-Jun kinase activity, in these cells correlate with the degree of neurological disorder in the patients.

Ataxia Telangiectasia↗

PubMed1991

Ataxia telangiectasia presenting as an extrapyramidal movement disorder and ocular motor apraxia without overt telangiectasia.

Ataxia telangiectasia may present with few, if any, of its typical extraneurological manifestations, but the combination of an extrapyramidal movement disorder, ocular motor apraxia with head thrusting and cerebellar incoordination is characteristic. In this sporadic case there was no overt immune dysfunction, oculocutaneous telangiectasia were inconspicuous and the neurological presentation was atypical with dystonia predominating over cerebellar incoordination. The uncontrollable and disabling involuntary movements, which have not to our knowledge been described in ataxia telangiectasia before, showed a partial response to moderately large doses of benzhexol, but were refractory to all other medications. Treatment in the future is to be with increasing doses of benzhexol until the dystonia is controlled or larger doses cannot be tolerated.

Adult↗

PubMed1981

Bleeding gastric telangiectasia. Complication of Raynaud's phenomenon, esophageal motor dysfunction, sclerodactyly and telangiectasia (REST) syndrome.

Anemia and skin telangiectasia were the main presenting features of a patient with Raynaud's phenomenon, esophageal motor dysfunction, sclerodactyly and telangiectasia (REST) syndrome. Diffuse gastric telangiectasia with chronic intermittent blood loss were responsible for the anemia. The multisystemic and progressive character of this collagenopathy in our patient is described and the endoscopic picture is presented. Management difficulties and treatment alternatives are discussed.

Aged↗

PubMed1998

[Hereditary benign telangiectasia: a rare form of primary telangiectasia with successful treatment with flash-lamp-pumped pulsed dye laser].

We report about multiple cutaneous telangiectases occurring over 3 generations. The pattern of inheritance, the morphology of the lesions, and the absence of hemorrhagic episodes are consistent with an unusual variant of primary telangiectasia described as hereditary benign telangiectasia. Differential diagnosis and pathogenesis of this rare type of telangiectasia is discussed. The lesions have been treated with the flashlamp-pumped pulsed dye laser. The lesions were completely removed by two treatments. Six months later, the patient had no recurrence of the telangiectases. Without producing scars or permanent pigmentary changes a very good cosmetic result has been achieved and stigmatisation and psychic burden of this patient has been relieved.

Adult↗

PubMed1989

Skin fibroblasts from patients with the genetic disorder hereditary hemorrhagic telangiectasia compared with ataxia-telangiectasia fibroblasts in their response to the radiomimetic drug neocarzinostatin.

Skin fibroblasts from patients with hereditary hemorrhagic telangiectasia (HHT) were compared with fibroblasts from patients with the genetic disorder ataxia-telangiectasia (A-T), and with SV40-transformed A-T fibroblasts, regarding their sensitivity to the radiomimetic drug neocarzinostatin (NCS). Whereas A-T fibroblasts were found to be hypersensitive to NCS at low concentrations (as measured by the cellular survival test), as previously reported, the HHT fibroblasts were more resistant to NCS and behaved as normal fibroblasts. The SV40-transformed A-T cells also resembled normal fibroblasts in their response to NCS in the colony formation test. In the DNA synthesis test, HHT strains of fibroblasts did not fully resemble untransformed and SV40-transformed A-T cells that continued to synthesize DNA following NCS treatment, since NCS inhibited DNA synthesis in HHT fibroblasts by 5 to 15%; whereas the same treatment in normal fibroblasts reduced DNA synthesis by 40%.

Antibiotics, Antineoplastic↗

PubMed1988

Molecular characterization of ataxia telangiectasia T cell clones. II. The clonal inv(14) in ataxia telangiectasia differs from the inv(14) in T cell lymphoma.

We compared inversions of chromosome 14 in an ataxia telangiectasia clone and in a malignant T cell line (SUP-T1). The R-banding chromosome analysis showed a clear difference between the distal breakpoint of the two inversions. Fine mapping of the distal breakpoint in the ataxia telangiectasia inv(14) was performed by in situ hybridization. We conclude that this breakpoint is centromeric to the immunoglobulin heavy chain locus and to the D14S1 anonymous locus. Our results favor the existence of an unknown oncogene in band 14q32.1.

Ataxia Telangiectasia↗

PubMed2005

Ionizing radiation-dependent gamma-H2AX focus formation requires ataxia telangiectasia mutated and ataxia telangiectasia mutated and Rad3-related.

The histone variant H2AX is rapidly phosphorylated at the sites of DNA double-strand breaks (DSBs). This phosphorylated H2AX (gamma-H2AX) is involved in the retention of repair and signaling factor complexes at sites of DNA damage. The dependency of this phosphorylation on the various PI3K-related protein kinases (in mammals, ataxia telangiectasia mutated and Rad3-related [ATR], ataxia telangiectasia mutated [ATM], and DNA-PKCs) has been a subject of debate; it has been suggested that ATM is required for the induction of foci at DSBs, whereas ATR is involved in the recognition of stalled replication forks. In this study, using Arabidopsis as a model system, we investigated the ATR and ATM dependency of the formation of gamma-H2AX foci in M-phase cells exposed to ionizing radiation (IR). We find that although the majority of these foci are ATM-dependent, approximately 10% of IR-induced gamma-H2AX foci require, instead, functional ATR. This indicates that even in the absence of DNA replication, a distinct subset of IR-induced damage is recognized by ATR. In addition, we find that in plants, gamma-H2AX foci are induced at only one-third the rate observed in yeasts and mammals. This result may partly account for the relatively high radioresistance of plants versus yeast and mammals.

Arabidopsis↗

PubMed1975

Hereditary telangiectasia manifested as gastrointestinal bleeding without external visible telangiectasia.

Gastrointestinal bleeding is one of the most common problems confronting the physician. In most instances, the source of the bleeding is easily identified, e.g., peptic ulcer disease, bleeding esophageal varices or a colonic lesion. Recurrent gastrointestinal bleeding, however, represents one of the major enigmas confronting the practicing physician. The patient experiences intermittent episodes of weakness, easy fatigability and anemia with occult blood in the stool. Multiple barium radiographic examinations and often endoscopy and exploratory laparotomy are unrevealing as to the etiology of the bleeding. We have had occasion to investigate three such patients. Multiple evaluations of these individuals did not reveal the source of the bleeding until many years later--Rendu-Osler-Weber Disease (ROW). At the time of their evaluations these patients did not reveal the usual telangiectatic areas present on the skin and oral mucous membrane. The diagnosis was suggested by the presence of multiple gastric mucosal telangiectasia identified by gastroscopic examination. This report emphasizes the need for thorough endoscopic evaluation of patients with gastrointestinal bleeding and describes the gastroscopic findings that indicated hereditary telangiectasia as the probable source of bleeding from the gastrointestinal tract.

Aged↗

PubMed1985

Hereditary haemorrhagic telangiectasia: the use of H2 receptor antagonist in symptomatic gastric telangiectasia.

Hereditary haemorrhagic telangiectasia is an autosomal dominant disorder characterized by the presence of mucocutaneous dilatation of capillaries and venules. The underlying defect, a deficiency of vascular elastic tissue and muscle, predisposes these vessels to injury and inadequate contractility. Recurrent epistaxis or gastrointestinal haemorrhage is the clinical hallmark of the symptomatic patient. Management is frequently individualized as no modality of therapy has been found to be universally effective. The purpose of this communication is to discuss the use of H2 receptor antagonist in symptomatic gastric telangiectasia.

Aged↗

PubMed1983

Unilateral dermatomal superficial telangiectasia. Nine new cases and a review of unilateral dermatomal superficial telangiectasia.

Unilateral dermatomal superficial telangiectasia (UDST) may be congenital or acquired. Acquired UDST may occur coincident with physiologic states of estrogen increase, including puberty and pregnancy in women and adrenarche in men. Acquired UDST may also occur in estrogenized pathologic states such as chronic hepatic disease in alcoholism. The occurrence during estrogenized states, the dermatomes of distribution, and the presence of anemic halos suggest kinship with arterial spiders. UDST and some cases of benign, generalized telangiectasia may be local and universal forms, respectively, of the same pathologic process in the cutaneous microvasculature. Further, this is compatible with both the concept that UDST results from a somatic mutation and the usual nonfamilial presentation of UDST.

Adult↗

PubMed1988

Comparative human cellular radiosensitivity: II. The survival following gamma-irradiation of unstimulated (G0) T-lymphocytes, T-lymphocyte lines, lymphoblastoid cell lines and fibroblasts from normal donors, from ataxia-telangiectasia patients and from ataxia-telangiectasia heterozygotes.

We have measured clonal survival following gamma-irradiation of unstimulated (G0) T-lymphocytes from 35 donors, of 11 T-lymphocyte cell lines, of six lymphoblastoid cell lines, and of nine primary fibroblast strains for which we have G0 T-lymphocyte material from the same donor. Amongst the G0 lymphocytes we have results from nine normal donors, from eight cord bloods, from seven ataxia-telangiectasia (A-T) patients and from nine A-T heterozygotes. Although there is some variation between samples, G0 T-lymphocytes from normal donors appear to be slightly more radioresistant than T-lymphocyte lines, with a more shouldered survival curve. From our limited sample, lymphoblastoid cell lines appear to be slightly more radiosensitive than T-lymphocytes. The overall radiosensitivity of primary fibroblasts appears to be broadly similar to that of G0 T-lymphocytes. In nine instances, five A-Ts and four A-T heterozygotes, both G0 T-lymphocytes and primary fibroblasts from the same donor were tested. In five cases there was closely similar radiosensitivity in the two cell types, but in four cases there was some discrepancy. Further work, especially with normal donors, will be required in order to establish how reliably radiosensitivity in other cell types can be predicted from that of G0 T-lymphocytes. In all cell types the hypersensitivity of A-T cells was confirmed. Furthermore, the marginally greater sensitivity of A-T heterozygotes, when compared as a group with normals, was confirmed with G0 T-lymphocytes. Our results also suggest a slightly increased radiosensitivity in G0 T-lymphocytes from some, but not all, cord blood samples.

Ataxia Telangiectasia↗

PubMed2000

Generalized essential telangiectasia in a patient with Graves' disease: should the spectrum of autoimmune diseases associated with generalized telangiectasia be expanded?

Generalized essential telangiectasia (GET), as originally described, is not associated with any underlying disease. Although patients with GET lack the typical periungual telangiectases associated with autoimmune collagen vascular diseases, these patients may have an underlying autoimmune process. We present a patient with a history of Graves' disease and low-titer anti-nuclear antibodies, who developed rapidly progressive generalized telangiectases. The gender and age of the majority of patients with GET fit well within the demographics of most autoimmune diseases. The documented occurrence of an autoimmune disease in several of the limited number of patients previously diagnosed with GET provides additional evidence that GET may be associated with an underlying autoimmune disease.

Adult↗

PubMed2001