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)

We investigated anticardiolipin antibodies (aCL) by enzyme linked immunosorbent assay with adding aCL-cofactor in two cases of recurrent OPN and ATM patients. These two patients had similar clinical features with ATM and OPN during their clinical courses. They were supposed to be suffered with multiple sclerosis (MS), although cranial MRI was normal and oligoclonal IgG band (OCB) was consistently absent in the cerebrospinal fluid. Positive aCL is suggestive that this disease may be a disorder associated with aCL with different etiology and pathogenesis from other MS patients. Serologic testing for aCL with aCL-cofactor should be warranted for MS patients, especially for those showing OPN and ATM during the clinical course, because in orientals the incidence of ATM and OPN is relatively high among MS.
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PMID:[Two cases of recurrent optic neuritis (OPN) and acute transverse myelopathy (ATM) with associated anticardiolipin antibodies]. 129 57

The CT and MRI appearances of 5 patients with Cockayne's syndrome, 5 with ataxia telangiectasia and 1 with Fanconi's anaemia are reported. These conditions, together with Bloom's syndrome and xeroderma pigmentosum are regarded as disorders of DNA repair. Characteristic CT and MRI features of Cockayne's syndrome include generalised atrophy, calcification in basal ganglia and dentate nuclei and white matter low density. Neuroradiological findings in the other DNA repair disorders are nonspecific.
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PMID:Cranial CT and MRI in diseases with DNA repair defects. 160 8

Ataxia telangiectasia (AT) is a hereditary disease that involves both the immune and nervous system; its pathogenesis is believed to be due to disturbances in DNA repair system. Because children are usually affected, reports concerning adult patients are rare. In the present study, we performed comprehensive clinical, histological, and radiobiological examinations on two adult female siblings, currently 23 and 19 years old. The initial symptom was an ataxic gait, which began in the elder sister at the age of 20 and the younger sister at the age of 18. Both had mild telangiectasia in the bulbar conjunctiva and auricula. The neurological manifestations of both were gaze nystagmus, cerebellar ataxia, hyporeflexia, and vibratory sensation disturbance. Only the elder sister showed stocking type sensory disturbance. The MRI of both patients revealed cerebellar atrophy, especially in vermis. After either X-ray irradiation or bleomycin treatment, fibroblast survival curve showed a marked, dose-dependent declined in both patients compared with normal controls. Similar patterns were observed in both patients. After bleomycin treatment, no differences in the survival ratio of cultured fibroblasts could be found between these adult patients and those observed in younger children with classic AT. Biopsied sural nerves showed a decrease in the number of large myelinated fibers, with a few myelinated axons having relatively thin myelin. There were severe atrophic changes, with regenerative myelinated fibers in the elder sister. In conclusion, both adult patients with delayed onset AT displayed similar bleomycin hypersensitivity in fibroblasts as would be expected in children with AT. Radiobiological examinations and sural nerve biopsy suggest that both disturbed cellular regeneration and atrophic process may play a role in the neural involvement in this disease.
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PMID:[Histological and radiobiological study on adult cases with ataxia telangiectasia]. 751 54

We examined five males with laboratory-confirmed ataxia-telangiectasia (AT), aged 9-28 years, several times by MRI (9 examinations: 5 at 0.15 T, 3 at 0.5 T, 1 at 1.5 T). Intermediate, T1-, T2- and T2*-weighted spin-echo and gradient-echo sequences were performed. All patients showed vermian atrophy, enlarged fourth ventricle and cisterna magna; four showed cerebellar hemisphere atrophy; two enlarged infracerebellar subarachnoid spaces and four patients had sinusitis. No focal areas of abnormal signal were seen in the brain, diffuse high signal was found in the central cerebral white matter of the oldest patient. AT is an important human model of inherited cancer susceptibility and multisystem ageing; as in xeroderma pigmentosum and other "breakage syndromes", ionising radiation should be avoided. When imaging is necessary, MRI should be preferred to CT in patients known or suspected to have AT and those with undefined paediatric ataxias of nontraumatic origin. If atrophy of only the cerebellum, especially the vermis, is noted, laboratory research should be performed to confirm the diagnosis of AT.
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PMID:Cranial MRI in ataxia-telangiectasia. 770 96

Recently, a new syndrome of early onset cerebellar ataxia with hypoalbuminemia (EOCA-HA) was reported in Japan. The clinical features of EOCA-HA overlap with those of Friedreich's ataxia (FA), and primary hypoalbuminemia is a characteristic laboratory finding of this syndrome. Genetic linkage analysis of EOCA-HA including this newly reported family revealed that the gene for EOCA-HA is located on the long arm of chromosome 9 as FA. However, several recombination events were observed between D9S15 in EOCA-HA, whereas no recombination events were seen in FA. We report on two siblings with EOCA-HA and discuss the clinical and laboratory features. The patients were a 25-year-old man (patient 1) and a 23-year-old man (patient 2). Their parents marriage was non-consanguineous. The mode of inheritance is compatible with autosomal recessive mode. Clinically, they showed cerebellar ataxia as the initial symptom in the late infantile period and subsequently showed choreoathetosis and ocular motor apraxia at the age of approximately fifteen years. Deep tendon reflexes were reduced in late infancy and finally disappeared. Amyotrophy and sensory impairment of the legs developed at approximately twenty. Abnormal electrocardiogram and diabetes mellitus were not observed. On X-ray CT scan or MRI, the cerebella of both patients were mildly atrophic. Clinical features in these siblings were indistinguishable from those of ataxia telangiectasia, but immunodeficiency syndrome was absent.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Siblings of early onset cerebellar ataxia with hypoalbuminemia]. 778 Dec 24

We have surveyed the sensitivity of the spin lattice relaxation rates of the 19F resonances of several perfluorocarbons to changes in oxygen tension and temperature. Hexafluorobenzene was found to exhibit exceptional sensitivity to changes in oxygen tension, and we have exploited this phenomenon to measure tumor oxygen tension following intratumoral injection. When 20 microliters hexaflourobenzene were injected they remained localized and the biodistribution was readily assessed on the basis of combined 1H and 19F three-dimensional MRI. Relaxation measurements indicated a typical baseline oxygen tension of 4.0 +/- 1.5 torr in the central region of a Dunning prostate R3327-AT1 tumor when the rat breathed 66% oxygen. Altering the inspired oxygen concentration to 100% produced a modest increase in pO2 (5.6 +/- 0.7 torr; p < 0.1). Significantly, the precision of these measurements should facilitate NMR investigations of radiobiological hypoxia. Intra-tumoral injection allowed measurements from regions not normally accessible to infused perfluorocarbons and provides an additional approach to measuring tumor oxygenation.
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PMID:Hexafluorobenzene: a sensitive 19F NMR indicator of tumor oxygenation. 889 99

During the Medicus field test we gained experience using the teleradiology system for almost daily teleconferences between a radiology department and clinics for internal medicine, urology, and gynecology. The existing system has a high degree of functionality. The full 12-bit data format is available using the DICOM protocol. A data security concept is implemented, ensuring data integrity, privacy and authentication of communication partners. This concept covers the areas of organization, technique, user training, and software implementation. A future system should be a general purpose radiology workstation covering viewing functionality, image manipulation, and digital archive access. Dedicated teleradiology features have to be a part. Specialized evaluation software, e.g. for dynamic MRI, should be integratable in a modular way. For data exchange with other systems and for the synchronization of teleconference sessions, the protocols should be independent of the network standard used (ISDN, Ethernet, ATM) and based on the DICOM protocol. Extensions of the existing standard are therefore necessary. Besides future technical developments, reimbursement for teleradiology must be accomplished.
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PMID:[Requirements for a teleradiology system. Experiences with the MEDICUS-2 field test]. 926 11

The aim of this study is to observe the frequency of the different types of disc displacements (d.d.) of the TMJ (ATM) and to evaluate if these types are related or not with malocclusions. One hundred patients and 13 asymtomatic volunteers underwent full clinic examination. sagittal MRI (mouth open and closed) and coronal MRI (mouth closed). The different types of disc displacements were noted and cumulated in frequency and in relation with several occlusal criteria. Unlike the general opinion stating that the antero-medial d.d. (d.d. a-m) are the most frequent amongst the internal derangements, the result of this study reveals that the antero-lateral d.d. (d.d. a-l) are more frequent amongst the patients (35.1%) and the asymptomatic volunteers in general and particularly in view of a malocclusion (exagerated anterior overlapping and posterior cross bite). The study gives rise to the question of the etiology of a antero-lateral d.d. and sets back the hypothesis of the lateral pterygoid muscle fundamental role in the disc displacements.
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PMID:[The frequency of various types of disk displacement and its relation to occlusion]. 928 Dec 97

We report on a Japanese family having an autosomal dominant neurodegenerative disease with chromosomal instability and radiosensitivity. Clinical manifestations of affected members included short stature, osteoporosis, severe dental caries, and various neurological abnormalities, such as mental retardation, depression, dysarthria, hyperreflexia, and ataxic gait. MRI demonstrated a markedly atrophic spinal cord and degeneration of the white matter. Cytogenetic examination showed spontaneous chromosome rearrangements at 14q11.2 and hypersensitivity to radiation and bleomycin. The degree of these cytogenetic abnormalities was significantly higher in the patients than in normal controls but lower than in patients with ataxia telangiectasia or Nijmegen breakage syndrome. Moreover, genetic anticipation was observed in this family: the age of disease onset became earlier, MRI abnormalities more extensive, and the chromosome hypersensitivity to radiation increased in successive generations. We speculate that a basic defect in this family is a mutation in the gene that is responsible for DNA double-strand breakage repair.
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PMID:Japanese family with an autosomal dominant chromosome instability syndrome: a new neurodegenerative disease? 1103 37

Measurement of vascular compliance has assumed increasing importance as a marker of early disease of the vascular wall, a predictor of future vascular disease, and a way to monitor the effects of vasoactive agents on arterial wall stiffness. Vascular compliance can be estimated by several methods: measurement of the pulse pressure, or pulse pressure-stroke volume ratio; analysis of the systolic pulse wave augmentation index and the diastolic pulse wave contour; ultrasonic echo-tracking; and MRI. Because few comparative studies have been done, the physiologic significance of the measures of compliance obtained by each method is uncertain. Antihypertensive drugs may improve vascular compliance by reducing blood pressure, relaxing vascular smooth muscle, or promoting long-term effects on vascular smooth muscle and cardiomyocyte growth and remodeling. Angiotensin converting enzyme (ACE) inhibitors have been reported to improve vascular compliance in nearly all studies, suggesting a beneficial class effect independent of blood pressure reduction. Favorable changes in the vascular wall-lumen ratio of small vessels from subcutaneous gluteal biopsy specimens after treatment with ACE inhibitors and the persistence of improved vascular compliance after withdrawal of therapy indicate that these agents may produce long-term vascular remodeling. Although few studies have been done, angiotensin II receptor antagonists improve vascular compliance, possibly by blocking angiotensin II-mediated cell proliferation and increasing apoptosis via unopposed AT1 receptor stimulation. In contrast, calcium antagonists and beta-blockers have variable effects on vascular compliance, although beta-blockers with intrinsic sympathomimetic activity improve vascular compliance. Diuretics have little effect on vascular compliance beyond their blood pressure-lowering actions, except for spironolactone, which by improving vascular compliance may have contributed to the reduction in heart failure mortality seen in the Randomized Aldactone Evaluation Study.
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PMID:The effect of antihypertensive drugs on vascular compliance. 1147 12


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