Lack of association between TNFα rs1800629 polymorphism and schizophrenia risk: A meta-analysis

Evidence has suggested that tumour necrosis factor α (TNFα) may be involved in the aetiology of schizophrenia, but the underlying association between TNFα-308G/A polymorphism (rs1800629) and schizophrenia risk is still ambiguous. This meta-analysis was performed to quantitatively summarise the evidence for such a relationship. Eligible studies were identified by searching PubMed, EMBASE, CNKI (China National Knowledge Infrastructure), CBM (Chinese Biomedical Literature Database) and WANFANG databases within a range of published years from 1990 to July 2012. The odds ratio (OR) corresponding to the 95% confidence interval (CI) was used to assess the different associations. Twenty-one studies with 4340 cases and 5745 controls were included in this meta-analysis. The pooled examination displayed that there was no significant association between TNFα-308G/A polymorphism and susceptibility to schizophrenia overall (OR=1.047, 95% CI=0.876–1.253, P=0.614 for A vs. G), and no difference in Caucasian subgroup (OR=1.041, 95% CI=0.815–1.331, P=0.747) and Asian subgroup (OR=1.057, 95% CI=0.807–1.386, P=0.686). Lack of association was also found in males (OR=0.862, 95% CI=0.413–1.797, P=0.692) and females (OR=0.797, 95% CI=0.579–1.097, P=0.163) with a dominant model. Taken together, this meta-analysis suggests that TNFα-308G/A polymorphism may not be associated with schizophrenia susceptibility.     

Preoperative predictive factors affecting return to work in patients with gliomas undergoing awake brain mapping

Journal of Neuro-Oncology - This study aimed to investigate the preoperative predictive factors affecting return to work in patients with gliomas in the left cerebral hemisphere undergoing awake...     

腋下小切口与胸腔镜治疗青少年肺大泡破裂的疗效比较分析

目的:比较腋下小切口与胸腔镜治疗青少年肺大泡破裂的疗效.寻找一种较理想的治疗青少年肺大泡破裂的外科微创手术方式.方法:2002年5月～2008年5月,将100例肺大泡破裂患者随机分为两组,A组50例施行腋下小切口开胸手术,B组50例施行胸腔镜手术治疗.结果:A组胸液量、胸管、留置时间、术后早期肺复张不全、术后平均住院时间均高于B组(均P＜0.05),术后镇痛剂使用率两组差异无统计学意义(p＞0.05).结论:采用胸腔镜手术治疗青少年肺大泡破裂优于腋下小切口手术,应作为治疗青少年肺大泡破裂的首选方法.     

A novel high-sensitivity assay to detect a small fraction of mutant <Emphasis Type="Italic">IDH1</Emphasis> using droplet digital PCR

Detection of mutations in the isocitrate dehydrogenase 1 (IDH1) gene is useful for accurate diagnosis of lower grade gliomas, as described in the 2016 World Health Organization classification of tumors of the central nervous system. Conventional analysis tools, including Sanger DNA sequencing and immunohistochemistry, might fail to detect a small fraction of mutant IDH1 owing to their limited sensitivity. Considering that lower grade gliomas are infiltrative in nature, a highly sensitive detection assay for IDH1 mutation is required for their accurate diagnosis. In this study, we successfully established a droplet digital PCR (ddPCR) system to detect a small fraction of IDH1 mutation. We could detect 0.05% of mutant IDH1 allele in 30 ng DNA. Using this assay, we could detect a small fraction of mutant IDH1 in a glioma case, identified as a wildtype tumor according to the conventional assays. Additionally, in a small amount of DNA derived from the cerebrospinal fluid, we could detect an IDH1 mutation. In conclusion, the ddPCR system is useful to identify a small fraction of IDH1 mutation in diffuse infiltrative gliomas. This might be useful for precision medicine of these gliomas in the near future and also for the non-invasive diagnosis of these gliomas.     

Forensic parameters of 19 X-STR polymorphisms in two Chinese populations

Application of X-STRs as complements of autosomal STR application in the forensic genetics has become a tendency for kinship testing, especially in deficiency paternity cases. Recently, a novel kit of 19 X-STR loci was developed, which permitted the analysis of 19 STR in the same PCR reaction, and these markers can be clustered into seven groups for the physical linkage. The objective of this study was to evaluate the allele and haplotype diversity of 19 X-STR loci in the Uygur (n = 220) and Tibetan nationality (n = 270) and to estimate the usefulness for complex kinship analysis. In the Tibetan and Uygur populations, a total of alleles of all loci were 188 and 212, with the allele frequencies ranged from 0.0037 to 0.5593 and from 0.0045 to 0.5409, respectively. Compared with previous studies, DXS10135 was the most polymorphic locus in the two population groups, whereas the least variant locus was DXS10164 in the Uygur population and DXS7423 in the Tibetan nationality. Haplotype diversity obtained in this investigation was greater than 0.9 across all LGs. This study indicated the new kit could be used as a supplementary tool in kinship testing in China. In addition, the data sets can be used as supplementary national X-STR references to enlarge the database.

     

Population data for 22 autosomal STR loci in the Uygur ethnic minority

Allele frequencies and forensically relevant population statistics parameter of 22 short tandem repeat (STR) loci were determined from 525 unrelated Uygur ethnic individuals. The samples were amplified with Microreader™ 23sp ID system. No significant deviation from Hardy–Weinberg equilibrium was detected, except for loci D7S3048, D21S1270, and D13S325. Investigated loci are very discriminating in Uygur ethnic population, with a combined discrimination power of 0.999999999999999999999999999920743. Furthermore, a comparison with previously published frequency data from Han population is presented.

     

脑红蛋白在成年男性生殖系统的表达及意义

目的:探讨脑红蛋白(neuroglobin,Ngb)在成年男性生殖系统的表达及其意义。方法:用免疫组织化学SP法观测Ngb在成人男性生殖系统的表达、分布与定位。结果:Ngb在生殖系统内神经节细胞、睾丸间质细胞有较强表达,在睾丸支持细胞、生精细胞、附睾管腔上皮、前列腺腺上皮及精囊黏膜上皮呈弱阳性表达。结论:Ngb在男性生殖系统中分布广泛,其功能值得研究。     

精神专科医院医患人员HBV感染情况初探

本文对精神专科医院医务人员（２２４人），精神病患者（３６５人）的ＨＢＶ感染情况进行回顾性总结。结果表明：医务人员ＨＢＶ的总感染率为２０．５％，精神病患者的总感染率为３５．９％。医务人员按职业和科室分类，医生ＨＢＶ感染率（４４．７％）明显高于其它人员，外科ＨＢＶ感染率（４３．８％）明显高于其它科室     

Immunohistochemical ATRX expression is not a surrogate for 1p19q codeletion

The IDH-mutant and 1p/19q co-deletion (1p19q codel) provides significant diagnostic and prognostic value in lower-grade gliomas. As ATRX mutation and 1p19q codel are mutually exclusive, ATRX immunohistochemistry (IHC) may substitute for 1p19q codel, but this has not been comprehensively examined. In the current study, we performed ATRX-IHC in 78 gliomas whose ATRX statuses were comprehensively determined by whole exome sequencing. Among the 60 IHC-positive and 18 IHC-negative cases, 86.7 and 77.8% were ATRX-wildtype and ATRX-mutant, respectively. ATRX mutational patterns were not consistent with ATRX-IHC. If our cohort had only used IDH status and IHC-based ATRX expression for diagnosis, 78 tumors would have been subtyped as 48 oligodendroglial tumors, 16 IDH-mutant astrocytic tumors, and 14 IDH-wildtype astrocytic tumors. However, when the 1p19q codel test was performed following ATRX-IHC, 8 of 48 ATRX-IHC-positive tumors were classified as “1p19q non-codel” and 3 of 16 ATRX-IHC-negative tumors were classified as “1p19q codel”; a total of 11 tumors (14%) were incorrectly classified. In summary, we observed dissociation between ATRX-IHC and actual 1p19q codel in 11 of 64 IDH-mutant LGGs. In describing the complex IHC expression of ATRX somatic mutations, our results indicate the need for caution when using ATRX-IHC as a surrogate of 1p19q status.