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991.
Berghoff C Berghoff M Leal A Morera B Barrantes R Reis A Neundörfer B Rautenstrauss B Del Valle G Heuss D 《Neuromuscular disorders : NMD》2004,14(5):301-306
Charcot-Marie-Tooth disease (CMT) comprises a heterogeneous group of hereditary motor and sensory peripheral neuropathies. The autosomal recessive axonal form of CMT (ARCMT2) is rare. Eight patients of a large consanguineous family of Spanish ancestry in Costa Rica were diagnosed with ARCMT2B; previous genetic studies of this family revealed linkage to chromosome 19q13.3. The clinical and electrophysiological features of these patients are reported. All patients presented with a symmetric motor and sensory neuropathy, which was more pronounced in the lower limbs. Further, distal muscle wasting and impaired deep tendon reflexes were found. Age at onset was between 26 and 42 years, and the disease duration ranged from 2 to 19 years. Electrophysiological studies revealed a primary axonal degenerative process. The clinical characteristics of this family differed in several aspects from previously reported families with ARCMT2. 相似文献
992.
Abstract.
Right-to-left shunt due to patent foramen ovale is a well-established risk factor for stroke in the young. The magnitude of shunt seems to be correlated to the risk of stroke in individuals. We report the cases of two 51-year-old identical twins, with similar risk factors for ischemic stroke, in which the sibling with a large and permanent shunt suffered a left hemispheric stroke and the other, with a small and latent shunt, was asymptomatic. In a three-year follow-up, the siblings were both asymptomatic, and the dimensions of shunts were unchanged. Our cases stress the importance of quantifying right-to-left shunt in order to stratify the risk of stroke in individuals, and suggest a role of heredity in patency of foramen ovale. 相似文献
993.
It has been proposed that S100B can be a marker for several pathological conditions including brain traumas, blood-brain barrier disruption, and ischemia. Because the hypothalamo-pituitary-adrenal axis is activated in these conditions, we investigated the role of glucocorticoids in the effects of stress on serum S100B. Restraint stress increased S100B levels in control and in adrenalectomized but not in corticosterone-injected rats. Adrenalectomy did not alter basal S100B. These results indicate a glucocorticoid-independent relationship between stress and S100B. 相似文献
994.
Estévez-González A García-Sánchez C Boltes A Otermín P Baiget M Escartín A del Rio E Gironell A Kulisevsky J 《European neurology》2004,51(4):199-205
To investigate the association between APOE-epsilon4 allele and memory phenotype in the preclinical stage of Alzheimer's disease (AD). We compared an extensive preclinical memory profile at the baseline evaluation of 2 AD genotype groups: APOE-epsilon4 allele carriers and patients with APOE-epsilon3 homozygosity. Baseline memory performance was carried out at least 2 years (interval of 27.7 +/- 4 months) before AD diagnosis was established, and analysis included different modalities of working memory (visuoperceptive, visuospatial, digit span and processing speed), of declarative memory (recent, verbal learning, prospective and semantic) and of nondeclarative memory (procedural, incidental and priming). We found no significant differences: memory performance was similar in both genotype groups. The presence of the APOE-epsilon4 allele does not seem to be sufficient to cause a distinctive preclinical memory phenotype in AD patients. 相似文献
995.
Del Signore A Gotti C Rizzo A Moretti M Paggi P 《Journal of neuropathology and experimental neurology》2004,63(2):138-150
Nicotinic acetylcholine receptors (nAChRs) mediate fast synaptic transmission in autonomic ganglia, which innervate and control the activity of most visceral organs. By combining ultrastructural, immunocytochemical, and pharmacological analyses, we characterized the nAChR subtypes in the rat superior cervical ganglion (SCG) and the effect of pre- and postganglionic nerve crush on their number in the ganglion and their distribution at the intraganglionic synapses. Binding with radioactive nicotinic ligands, immunoprecipitation, and immunolocalization experiments revealed the presence of different nAChR subtypes: those containing the alpha3 subunit associated with beta4 and/or beta2 subunits that bind 3H-Epibatidine with high affinity, and those containing the alpha7 subunit that bind 125I-alphaBungarotoxin. After postganglionic nerve crush, the number of nicotinic receptors and immunopositive intraganglionic synapses for each nAChR subunit strongly decreased. Both the number of nAChRs and immunoreactivity recovered 26 days after injury, when regenerating postganglionic fibers had reinnervated the peripheral target organs, as shown by the restoration of tyrosine hydroxylase immunoreactivity in the iris. This observation and the lack of any effect of preganglionic nerve crush on the number of nicotinic receptors suggest that the peripheral targets affect the organization of intraganglionic synapses in adult SCG. 相似文献
996.
997.
Expression of Toll-like receptors on human platelets 总被引:5,自引:0,他引:5
Shiraki R Inoue N Kawasaki S Takei A Kadotani M Ohnishi Y Ejiri J Kobayashi S Hirata K Kawashima S Yokoyama M 《Thrombosis research》2004,113(6):379-385
998.
999.
Sessa R Di Pietro M Schiavoni G Nicoletti M Soda G Nardoni S Bosco D Santino I Cipriani P Del Piano M 《International journal of immunopathology and pharmacology》2004,17(3):301-306
Chlamydia pneumoniae has recently been associated with the development of coronary heart diseases by sero-epidemiological studies and by direct detection of the organism in atherosclerotic tissues. The aim of our study was to employ a semi-nested PCR approach to investigate the presence of C. pneumoniae in both normal and atherosclerotic coronary arteries of humans obtained at autopsy. Moreover, we have evaluated the role of infection with C. pneumoniae in relation to the extent of coronary atherosclerosis. One hundred and eighty coronary artery specimens were collected at autopsy from 60 consecutive subjects (three arterial segments from each subject). Atherosclerosis in each arterial segment was graded histologically by the Stary classification. Thirty normal coronary arteries were also taken at autopsy as control. PCR results evidenced the presence of C. pneumoniae DNA in atherosclerotic coronary arteries in 19 (31.7%) of 60 subjects examined, while none of the 30 subjects with non-atherosclerotic tissues was positive (p=0.001). Moreover, of the 180 atherosclerotic specimens examined, C. pneumoniae DNA was detected in 3.4% (2/59) of mild atherosclerotic lesions, and in 14.0% (17/121) of advanced atherosclerotic lesions (p=0.05). Our results demonstrate that the presence of C. pneumoniae DNA may be associated with the severity of coronary atherosclerosis. 相似文献
1000.