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排序方式: 共有1647条查询结果,搜索用时 15 毫秒
51.
Egerer K Hertzer J Feist E Albrecht A Rudolph PE Dörner T Burmester GR 《Arthritis and rheumatism》2003,49(4):546-548
OBJECTIVES: To determine the usefulness of sE-selectin as a marker for early diagnosis and stratification of rheumatoid arthritis. METHODS: We investigated several markers of disease activity, including circulating adhesion molecules and other standard laboratory tests, in a 2-3 year followup analysis of patients with rheumatoid arthritis. RESULTS: The mean +/- SD levels of sE-selectin (91.68 +/- 31.8 ng/ml versus 49.83 +/- 14.76 ng/ml) and rheumatoid factor (375.7 +/- 394.4 U versus 44.66 +/- 37.63 U) were strongly elevated in severe (n = 15) versus mild (n = 7) courses of disease. Statistical calculation of mean and standard deviation revealed that sE-selectin represents a highly significant marker for the presence of persistent and aggressive disease over time, regardless of therapeutic intervention and observation time points (P = 0.0004). Notably, regression analysis identified constant values for all parameters analyzed and, therefore, a stable course of the disease could be predicted from the beginning. CONCLUSION: sE-selectin appears to be a powerful marker to predict the severity of rheumatoid arthritis. 相似文献
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53.
Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene 总被引:3,自引:0,他引:3
Wolcott-Rallison syndrome (WRS) is an autosomal recessive disorder characterized by neonatal or early infancy type 1 diabetes, epiphyseal dysplasia, and growth retardation. Mutations in the EIF2AK3 gene, encoding the eukaryotic initiation factor 2alpha-kinase 3 (EIF2AK3), have been found in WRS patients. Here we describe a girl who came to our attention at 2 months of age with severe hypertonic dehydration and diabetic ketoacidosis. A diagnosis of type 1 diabetes was made and insulin treatment initiated. Growth retardation and microcephaly were also present. Anti-islet cell autoantibodies were negative, and mitochondrial diabetes was excluded. Imaging revealed a hypoplastic pancreas and typical signs of spondylo-epiphyseal dysplasia. The diagnosis of WRS was therefore made at age 5 years. Sequencing analysis of her EIF2AK3 gene revealed the presence of a homozygous T to C exchange in exon 13 leading to the missense serine 877 proline mutation. The mutated kinase, although it partly retains the ability of autophosphorylation, is unable to phosphorylate its natural substrate, eukaryotic initiation factor 2alpha (eIF2alpha). This is the first case in which the pathophysiological role of EIF2AK3 deficiency in WRS is confirmed at the molecular level. Our data demonstrate that EIF2AK3 kinase activity is essential for pancreas islet function and bone development in humans, and we suggest EIF2AK3 as a possible target for therapeutic intervention in diabetes. 相似文献
54.
Trinka E Unterberger I Spiegel M Niedermüller U Benke T Berger T Bauer G 《Journal of neurology》2002,249(6):782-783
Journal of Neurology - 相似文献
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56.
Working at a power density above optical breakdown threshold, irradiation effects upon the angle of the anterior chamber of the Macaca speciosa monkey by a Nd glass Q-switched laser, have been analysed with scanning electron microscopy.Two different damage effects can be identified: openings of Schlemm's canal and the creation of a cyclodialysis, that is opening the uveoscleral outflow routes; the latter may be a more effective one than the former. Also a third mechanism, namely a structural alteration of the trabecular meshwork, at the molecular level by laser action, has been inferred. The physical effects leading to optically induced mechanical damage are discussed. Applicability of such effects upon the morphological findings described here, is limited and to a greater part speculative. A better definition of the physical parameters, required for optimal therapeutical damage effects in the treatment of the wide angle glaucoma may be obtained by trial and error methods, which are guided by the results of electron microscopical analyses of samples obtained from in vivo and in vitro experiments.Work supported by the Swiss National Science Foundation, the Commission for the Promotion of Scientific Research, and the ASUAG. 相似文献
57.
Balmer C Ballhausen D Bosshard NU Steinmann B Boltshauser E Bauersfeld U Superti-Furga A 《European journal of pediatrics》2005,164(8):509-514
A boy presented at age 2.5 years with mild left ventricular hypertrophy and mild myopathy. Hypertrophic cardiomyopathy progressed relentlessly, leading to death at age 16 years shortly before planned heart transplantation. During the course of the disease, his mother developed severe dilated cardiomyopathy and died of its complications at 46 years of age. The combination of myopathy and cardiomyopathy, the biochemical and electron microscopy findings in a muscle biopsy, and the pedigree suggested Danon disease (MIM 300257), an X-linked lysosomal storage disorder caused by deficiency of lysosome-associated membrane protein-2 (LAMP2). The diagnosis was confirmed by the identification of a novel mutation, G138A, in the LAMP2gene, leading to the premature stop codon W46X. Conclusion:Early diagnosis of Danon disease is important for genetic counselling and timely cardiac transplantation, the only effective therapeutic option. 相似文献
58.
Spatt J Bauer G Baumgartner C Feucht M Graf M Mamoli B Trinka E;Austrian Section of the International League Against Epilepsy 《Epilepsia》2005,46(5):736-742
PURPOSE: To assess knowledge of and attitudes toward epilepsy in the Austrian general public and to identify independent predictors of negative attitudes. METHODS: A survey consisting of a representative sample of 2,128 Austrian adults was commissioned. A questionnaire similar to the ones used in earlier studies in other countries was used. The independent influence of socioeconomic variables and of knowledge and concepts about epilepsy on attitudes were analyzed by using logistic stepwise regression procedure. RESULTS: Nearly 10% of respondents expressed negative attitudes toward people with epilepsy. These figures are similar to those of other studies performed in comparable societies. In addition to being male and of low socioeconomic background, having little theoretical knowledge about epilepsy, misconceptions of epilepsy as a form of insanity, and no personal acquaintance with someone with epilepsy independently predispose to unfavorable attitudes toward epilepsy. CONCLUSIONS: Information campaigns on epilepsy are likely to improve attitudes toward epilepsy when they target misconceptions about epilepsy and when they offer opportunities for personal acquaintance with people with epilepsy. 相似文献
59.
Brailoiu GC Dun SL Ohsawa M Yin D Yang J Chang JK Brailoiu E Dun NJ 《The Journal of comparative neurology》2005,481(3):314-329
60.
A consensus statement on empiric therapy for suspected gram-positive infections in surgical patients
Solomkin JS Bjornson HS Cainzos M Dellinger EP Dominioni L Eidus R Faist E Leaper D Lee JT Lipsett PA Napolitano L Nelson CL Sawyer RG Weigelt J Wilson SE 《American journal of surgery》2004,187(1):134-145
BACKGROUND: Multidrug resistance among gram-positive pathogens in tertiary and other care centers is common. A systematic decision pathway to help select empiric antibiotic therapy for suspected gram-positive postsurgical infections is presented. DATA SOURCES: A Medline search with regard to empiric antibiotic therapy was performed and assessed by the 15-member expert panel. Two separate panel meetings were convened and followed by a writing, editorial, and review process. CONCLUSIONS: The main goal of empiric treatment in postsurgical patients with suspected gram-positive infections is to improve clinical status. Empiric therapy should be initiated at the earliest sign of infection in all critically ill patients. The choice of therapy should flow from beta-lactams to vancomycin to parenteral linezolid or quinupristin-dalfopristin. In patients likely to be discharged, oral linezolid is an option. Antibiotic resistance is an important issue, and in developing treatment algorithms for reduction of resistance, the utility of these new antibiotics may be extended and reduce morbidity and mortality. 相似文献