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F. M. Cox E. M. J. Boon C. A. C. Van Der Lans E. Bakker J. J. G. M. Verschuuren U. A. Badrising 《European journal of neurology》2010,17(8):1108-1109
Background: Sporadic inclusion body myositis (sIBM) is the most frequent acquired myopathy above the age of fifty. The exact mechanism causing this disease is not known, but immune‐mediated features are prominent and are probably to play a role in its pathogenesis. TREX1 gene mutations are associated with a large range of autoimmune diseases, such as systemic lupus erythematosus. We investigated whether mutations in the TREX1 gene were associated with sIBM. Methods: Fifty‐four patients with sIBM were tested for TREX1 mutations by direct sequencing. Results: All 54 patients tested negative for pathogenic mutations in the TREX1 gene. One presumed non‐pathogenic polymorphism was found in 42 out of 54 patients. Conclusion: TREX1 mutations do not play a role in the pathogenesis of sIBM. 相似文献
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F. M. Cox J. J. Verschuuren B. M. Verbist E. H. Niks A. R. Wintzen U. A. Badrising 《Journal of neurology》2009,256(12):2009-2013
Dysphagia is an important yet inconsistently recognized symptom of inclusion body myositis (IBM). It can be disabling and
potentially life-threatening. We studied the prevalence and symptom-sign correlation of dysphagia. Fifty-seven IBM patients
were interviewed using a standard questionnaire for dysphagia and 43 of these underwent swallowing videofluoroscopy (VFS).
Symptoms of dysphagia were present in 37 of 57 patients (65%). Nevertheless, only 17 of these patients (46%) had previously
and spontaneously complained about swallowing to their physicians. Both symptoms of impaired propulsion (IP) (59%) and aspiration-related
symptoms (52%) were frequently mentioned. Swallowing abnormalities on VFS were present in 34 of 43 patients (79%) with IP
of the bolus in 77% of this group. The reported feeling of IP was confirmed by VFS in 92% of these patients. Dysphagia in
IBM is common but underreported by the vast majority of patients if not specifically asked for. In practice, two questions
reliably predict the presence of IP on VFS: ‘Does food get stuck in your throat’ and ‘Do you have to swallow repeatedly in
order to get rid of food’. These questions are an appropriate means in selecting IBM patients for further investigation through
VFS and eventual treatment. 相似文献
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庄金田 《山东医学高等专科学校学报》2014,(6):418-420
目的探讨降低布鲁菌病误诊率的临床措施。方法对兰陵县人民医院2010年1月至2013年12月中33例布鲁菌病误诊患者临床资料进行回顾性分析。结果 33例布鲁菌病被误诊为败血症8例、伤寒8例、睾丸炎7例、风湿性关节炎5例、肺炎2例、肾综合征出血热(HFRS)2例、肺结核1例,确诊后经规范治疗均治愈出院。结论布鲁菌病容易被误诊,临床医生要拓宽思路,熟练掌握有相似症状、体征的发热性疾病,综合分析,降低误诊率。 相似文献
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I. M. Bronner J. E. Hoogendijk M. de Visser J. van de Vlekkert U. A. Badrising A. R. Wintzen B. M. J. Uitdehaag M. Blokland-Fromme J. H. W. Leusen & W.-L. van der Pol 《Tissue antigens》2009,73(6):586-589
Leukocytes are involved in the pathogenesis of idiopathic inflammatory myopathies (IIMs). Immunoglobulin G (IgG) receptors (FcγR) link the specificity of IgG to the effector functions of leukocytes. Several FcγR subclasses display functional polymorphisms that determine in part the vigour of the inflammatory response. FcγRIIIa genotypes were differentially distributed among 100 IIM patients compared with 514 healthy controls with a significant increase of the homozygous FcγRIIIa-V-158 genotype (3 × 2 contingency table, χ2 = 6.3, P = 0.04). Odds ratios (ORs) increased at the addition of each FcγRIIIa-V-158 allele, in particular among patients with non-specific myositis and dermatomyositis {OR 2.1 [95% confidence interval (CI) 1.1–4.3] and 2.7 (95% CI 1.1–6.4) for FcγRIIIa-V/F158 and FcγRIIIa-V/V158 genotypes, respectively, using FcγRIIIa-F/F158 as a reference group}. These data suggest that the FcγRIIIa-V-158 allele may constitute a genetic risk marker for IIM. 相似文献
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Valproic acid (VPA) is a widely used anticonvulsant that is also approved for mood disorders, bipolar depression, and migraine. In vivo, valproate is metabolized oxidatively by cytochromes P450 and beta-oxidation, as well as conjugatively via glucuronidation. The acyl glucuronide conjugate (valproate-glucuronide or VPAG) is the major urinary metabolite (30-50% of the dose). It has been hypothesized that glucuronidation of antiepileptic drugs is spared over age, despite a known decrease in liver mass. The formation rates of VPAG in a bank of elderly (65 years onward) human liver microsomes (HLMs) were measured by liquid chromatography/tandem mass spectrometry and compared with those in a younger (2-56 years) HLM bank. In vitro kinetic studies with recombinant UDP-glucuronosyltransferases (UGTs) were completed. A 5- to 8-fold variation for the formation of VPAG was observed within the microsomal bank obtained from elderly and younger donors. VPAG formation ranged from 6.0 to 53.4 nmol/min/mg protein at 1 mM substrate concentration (n=36). The average velocities at 0.25, 0.5, and 1 mM VPA were 7.0, 13.4, and 25.4 nmol/min/mg protein, respectively, in the elderly HLM bank. Rates of VPAG formation were not significantly different in the HLM bank obtained from younger subjects. Intrinsic clearances (V(max)/K(m)) for several cloned, expressed UGTs were determined. UGT1A4, UGT1A8, and UGT1A10 also were found to catalyze the formation of VPAG in vitro. This is the first reported activity of these UGTs toward VPA glucuronidation. UGT2B7 had the highest intrinsic clearance, whereas UGT1A1 demonstrated no activity. In conclusion, our investigation revealed no differences in VPAG formation in younger versus elderly HMLs and revealed three other UGTs that form VPAG in vitro. 相似文献
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Badrising UA Maat-Schieman ML Ferrari MD Zwinderman AH Wessels JA Breedveld FC van Doorn PA van Engelen BG Hoogendijk JE Höweler CJ de Jager AE Jennekens FG Koehler PJ de Visser M Viddeleer A Verschuuren JJ Wintzen AR 《Annals of neurology》2002,51(3):369-372
We investigated whether 5 to 20mg per week oral methotrexate could slow down disease progression in 44 patients with inclusion body myositis in a randomized double-blind placebo-controlled study over 48 weeks. Mean change of quantitative muscle strength testing sum scores was the primary study outcome measure. Quantitative muscle strength testing sum scores declined in both treatment groups, -0.2% for methotrexate and -3.4% for placebo (95% confidence interval = -2.5% to +9.1% for difference). There were also no differences in manual muscle testing sum scores, activity scale scores and patients' own assessments after 48 weeks of treatment. Serum creatine kinase activity decreased significantly in the methotrexate group. We conclude that oral methotrexate did not slow down progression of muscle weakness but decreased serum creatine kinase activity. 相似文献
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目的 认识囊性肾癌的影像学特征,提高对囊性肾癌的早期诊治水平。方法 回顾性分析1998年6月~2006年6月收治的21例囊性肾癌患者的影像学及临床资料。21例患者均经手术.和病理证实。结果 常规超声联合彩色多普勒超声的诊断准确率为86%;增强CT的诊断准确率为81%;二者联合诊断准确率为100%。结论 囊性肾癌影像学表现复杂多变,常规超声联合彩色多普勒超声和增强CT对囊性肾癌的诊断有重要价值。根治性肾切除术是囊性肾癌的首选治疗方法。 相似文献