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Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1
Ligtenberg et al. (2009)
Nature Genetics 41: 112–117  相似文献   
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BACKGROUND AND OBJECTIVE: A novel non-enveloped DNA virus, called TT virus (TTV), has been reported to be associated with post-transfusion hepatitis of unknown etiology. Although its clinical role still remains obscure, its presence in blood donations might cause problems. It, therefore, appeared of interest to investigate TTV prevalence in voluntary blood donors. DESIGN AND METHODS: A total of 595 Italian blood donors with and without elevated serum alanine aminotransferase (ALT) levels were tested by polymerase chain reaction using two sets of semi-nested primers that amplify the well-known region in the N22 clone. The amplified products were then sequenced to assess the genotype by phylogenetic and restriction fragment length polymorphism analyses. RESULTS: The prevalence of TTV in blood donors was 5+/-1.9% (25 out of 500) with a 95% confidence limit. A similar prevalence was found in 95 selected blood donors with increased ALT levels. A viral load of 10(3)-10(4) viral DNA molecules/mL was found, thus indicating a rather narrow range of variability. A phylogenetic tree built up on the basis of 210 base sequences of ORF1 allowed isolates to be classified into 2 groups corresponding, at least, to two of the putatives TTV genotypes, group 1 and group 2 of Okamoto's classification. A similar classification was also obtained by site restriction enzyme analysis. INTERPRETATION AND CONCLUSIONS: The results show that TTV infection is present among Italian blood donors. No significant difference in prevalence of TTV infection was found between patients with normal and increased ALT, making the association between TTV infection and human hepatitis questionable.  相似文献   
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2002年5月1日颁布实施的《中华人民共和国职业病防治法》是规范职业卫生技术服务行为的法律依据。这是职业卫生技术服务工作走上规范化、标准化、法制化的根本保障,是职业卫生技术服务机构参与市场竞争、提高服务质量、促进自身发展的必由之路,也是企业自主选择职业卫生技术服务机构、提高职业危害防治水平、促进经济发展的关键所在。4年多来,我市各级各类职业卫生技术服务机构的发展极不平衡,仪器设备配备水平、人员能力素质与我省同类地区相比也有较大差距。为了解我市职业卫生技术服务机构现状,我们进行了此项调查。  相似文献   
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Renal carcinoma metastasis to the parotid gland   总被引:1,自引:0,他引:1  
Metastatic tumours in major salivary glands are uncommon with a higher incidence of primary sites from the head and neck. The lungs and breast are the common primary sites, while metastases from the kidney are very rarely found. The authors describe a case of renal clear-cell carcinoma with metastasis to the parotid gland. The incidence of a metastasis in the parotid gland from a primary renal carcinoma, even if rare, should not be overlooked in making a correct differential diagnosis with acinic cell carcinoma and monomorphic clear cell adenoma.  相似文献   
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We investigated if orally administered bifidobacteria and/or lactobacilli could be cultured from faeces of infants after antibiotic treatment, when these bacterial species are usually absent. Lyophilized Bifidobacterium longum, strain BB-536, B. breve, strain BB-576, or Lactobacillus acidophilus, strain LAC-343, were used. Doses of 3 x 10(9) cells of one strain, or a mixture of all three strains 3 x 10(9) cells each were fed three times daily at mealtimes to 11 infants aged 0-8 weeks. Treatment was started the first day after antibiotic treatment and was continued for 5 days. The bacterial species were isolated in 9 of 11, 7 of 10 and 2 of 9 specimens obtained on the last day of bifidobacteria or lactobacilli administration, 5 and 15 days thereafter, respectively. No side effects were noted.  相似文献   
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Dopamine (DA) has a crucial role in the modulation of striatal neuron activity. Along with projection cells, striatal interneurons receive dense dopaminergic innervation from midbrain neurons, thus, also suggesting that these intrinsic cells represent a synaptic target for DA action in the striatum. In the present study, we investigated the effects of DA on low-threshold spike (LTS) interneurons of the rat striatum, by means of in vitro whole-cell patch-clamp electrophysiological recordings. Dopamine depolarized LTS cells, a pharmacological effect prevented by D1- but not D2-like DA receptor antagonists. The membrane depolarization produced by DA was sufficient to trigger action potential discharge in the recorded cells and was insensitive to tetrodotoxin and glutamate receptor antagonists. In addition, this pharmacological effect was mimicked by D1- but not D2-like DA receptor agonists, implying the selective involvement of D1-like receptors in this action.  相似文献   
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