Comparison of effects of ELISPOTs using pleural fluid and peripheral blood in the diagnosis of tuberculous pleurisy / 天津医药

Objective To evaluate the effects of ELISPOT (enzyme-link immunospot) test using different samples in diagnosing tuberculous pleurisy. Methods Using T-Spot-TB kit to detect interferon-γlevel in pleural effusion and periph?eral blood from 164 patients with tuberculous pleural effusion and 102 patients without tuberculous pleural effusion. Number of spot forming cells (SFCs) as well as the specificity and sensitivity of the tests were compared between these two methods (ELISPOT using leural effusion or peripheral blood). Results The area under the ROC curve was 0.947 in pleural effusion Elispot test while it was 0.905 in peripheral blood Elispot test. The sensitivity of pleural effusion ELISPOT test in diagnosis of tuberculous pleurisy (95.1%) was significantly higher than that of peripheral blood ELISPOT test (89.0%). What’s more, the specificity of pleural effusion ELISPOT test in diagnosis of tuberculous pleurisy (90.2%) was higher than that in diagno?sis of peripheral blood ELISPOT test (88.2%). Conclusion The pleural effusion ELISPOT test is more valuable than periph?eral blood ELISPOT in the diagnosis of tuberculous pleuritis.

Polymorphisms of catechol-O-methyltransferase and monoamine oxidase B genes among Chinese patients with Parkinson's disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study polymorphisms of catechol-O-methyltransferase (COMT) and monoamine oxidase B (MAO-B) genes among Chinese patients with Parkinson's disease.</p><p><b>METHODS</b>Genotypes of the COMT and MAO-B genes of 1408 patients with Parkinson's disease was sequenced using Sanger method. And these patients were recruited by Chinese Parkinson Study Group from 29 research centers throughout the country.</p><p><b>RESULTS</b>The genotypic frequencies of COMT rs4680 AA, AG, GG were 8.9%, 42.0% and 49.1%. Those of rs4818 CC, CG, GG were 42.5%, 45.6% and 11.9%, respectively. The genotype frequencies of MAO-B rs1799836 A/AA, AG, G/GG were 74.4%, 14.1% and 11.5%, respectively. The haplotype formed by COMT rs4680 (GG) and MAO-B rs1799836 (A/AA) genotype has a frequency of 36.86%.</p><p><b>CONCLUSION</b>Polymorphisms of COMT and MAO-B genes has a unique characteristics among Chinese patients with Parkinson's disease. They may be related with differences in drug response in such patients.</p>

NOTCH3 gene diagnosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / 临床神经病学杂志

Objective To analyse the mutation types of the NOTCH3 gene with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL). Methods Including 4 probands of CADASIL,10 cases of CADASIL and 4 normal members from 3 CADASIL families and 100 healthy controls were recruited. Genomic DNA was extracted from white blood cell. The amplicons were analyzed by the denaturing high-performance liquid chromatography (DHPLC) technique. The positive samples which identified by the DHPLC were sequenced to determine the specific mutation or polymorphism, respectively. Results Three heterozygous missense mutations including Cys90Arg, Arg141Cys, Cys134Tyr located in the exon3 and exon4 were found in the 4 probands and 10 cases of CADASIL among the 3 families. 15 polymorphisms were also found. 2 members individual from family 1 and 2 were found to carry the same pathological mutations as in their proband but without clinical symptoms. They were identified as preclinical patients. Conclusions Mutation detection of NOTCH3 is the molecular genetic mechanical for CADASIL. The exon3 and exon4 are possible hot mutation spots in Chinese patients. The mutation of Cys134Tyr in exon4 is a novel mutation which has not been reported previously in China.