Ethnic differences in genetic polymorphism associated with irritable bowel syndrome

Genetic polymorphism is associated with irritable bowel syndrome(IBS) in terms of susceptibility and clinical manifestations. Previous studies have shown that genetic polymorphism might play a key role in the onset and progression of IBS by modulating components of its pathogenesis such as the gut-brain axis,gastrointestinal motility, inflammatory activity, and immune status. Although underlying pathophysiological mechanisms have not been fully clarified, the potential ethnic differences that are present in worldwide genetic studies of IBS deserve attention. This review surveyed numerous studies focusing on IBSassociated single nucleotide polymorphisms, and investigated the ethnic disparities revealed by them. The results demonstrate the need for more attention on ethnic factors in IBS-related genetic studies. Taking ethnic backgrounds into accounts and placing emphasis on disparities potentially ascribed to ethnicity could help lay a solid and generalized foundation for transcultural, multi-ethnic,or secondary analyses in IBS, for example, a meta-analysis. Broader genetic studies considering ethnic factors are greatly needed to obtain a better understanding of the pathophysiological mechanisms of IBS and to improve the prevention, intervention, and treatment of this disease.     

泸州汉族人群MTHFR基因多态性分布及育龄妇女该基因多态性与复发性流产相关性的研究

目的了解泸州市亚甲基四氢叶酸还原酶(MTHFR)基因多态性分布情况以及该单核苷酸多态性与复发性流产的相关性。方法选取2016-2018年在西南医科大学附属医院进行MTHFR基因检测的泸州汉族人群691例为研究对象,利用PCR-微阵列基因芯片法检测其C677T单核苷酸多态性,统计得出3种基因型的频率以及等位基因频率,并与全国其他地区已报道的多态性分布特征进行比较。结果泸州汉族人群CC、CT与TT基因型频率分别为39.2%、46.7%、14.0%,T等位基因频率为37.4%。其中女性T等位基因频率为38.1%,基因分布与纬度相近地区(N25°~31°)差异无统计学意义(P>0.05),与南方的海南、惠州及北方的西安、银川、赤峰、烟台人群差异有统计学意义(P<0.05)。在泸州育龄妇女中,复发性流产与MTHFR C677T基因多态性暂未发现存在直接关联。结论泸州地区汉族人群的MTHFR基因分布具有西南地区的分布特征,T等位基因频率整体呈现出随着纬度升高而升高的趋势。     

一例外周血染色体核型为单纯型18三体但智力正常女性的遗传学研究

目的分析1例外周血染色体核型为单纯型18三体但智力正常女性的遗传学机制。方法用G显带染色体核型分析、荧光原位杂交(fluorescence in situ hybridization,FISH)和单核苷酸多态性微阵列芯片(single nucleotide polymorphism microarray,SNP-array)技术对患者的外周血和颊粘膜细胞进行检测。结果患者的外周血染色体核型、SNP-array以及FISH检测结果均提示为47,XX,+18;颊粘膜间期细胞FISH检测结果提示为45,X合并低比例的18三体和18单体。结论胚层染色体嵌合的个体临床表现复杂,遗传学异常所造成的影响取决于相关胚层分化所形成的器官及功能。     

颈椎后路单开门椎管成形术对脊髓型颈椎病患者疗效及预后

目的通过不同手术方法探究颈椎后路单开门椎管成形术对脊髓型颈椎病患者的临床治疗效果及远期预后情况。方法将患者随机分两组,锚钉悬吊固定组(AS组):采用颈椎后路单开门椎管成形术中的锚钉悬吊固定法;Arch钢板固定组(TP组):采用颈椎后路单开门椎管成形术中的Arch钢板固定法。每组各45例。通过两种方法分析AS组与TP组的神经功能、轴性症状、开门角度和门轴侧融合率的疗效及远期预后差异性。结果手术前AS组与TP组JOA评分无差异性,AS组与TP组手术后1年与手术前相比较JOA评分均明显升高;AS组与TP组相比较神经功能改善率无差异性;术后1年,TP组11例发生轴性症状,发生率为24.44%,AS组26例发生轴性症状,发生率为57.78%,经比较有明显差异。通过CT测量开门角度,术后1个月和1年,TP组与AS组相比较开门角度明显增大,两组术后1年与术后1个月相比较降低,但TP组仍大于AS组。结论在颈椎后路单开门椎管成形术中Arch钢板固定法优于锚钉悬吊固定法,对脊髓型颈椎病患者的治疗效果显著,且一年内远期预后整体效果好,Arch钢板固定法好于锚钉悬吊固定法。     

宁夏2019参加全国个人剂量监测能力考核结果分析

目的 通过分析2019年参加全国放射工作人员个人剂量监测能力考核结果，了解本省实验室个人剂量监测系统运行状况，进一步提高监测能力和水平。方法 参加2019年全国放射工作人员个人剂量监测能力考核，并对考核结果进行分析总结。结果 本次能力考核检测报告获得满分10分，且单组性能偏差在-0.04～0.01（均符合|P_i| ≤ 0.10），同时综合性能偏差B² + S² ≤ 0.10（B为综合判定指标，S为综合标准偏差），故而实验得70满分，总分达到80分可参加评定优秀的要求，经评定质控分为17.3分，Q值为97.3（Q值 ≥ 95为优秀），故本实验室个人剂量监测能力考核结果为优秀。结论 宁夏个人剂量监测实验室系统运行良好，检测结果准确、误差范围较小，可满足国家职业性外照射个人剂量监测相关标准要求。     

Acceptance of multiple injectable vaccines in a single immunization visit in The Gambia pre and post introduction of inactivated polio vaccine

BackgroundAs the World Health Organization (WHO) currently recommends that children be protected against 11 different pathogens, it is becoming increasingly necessary to administer multiple injectable vaccines during a single immunization visit. In this study we assess Gambian healthcare providers’ and infant caregivers’ attitudes and practices related to the administration of multiple injectable vaccines to a child at a single immunization visit before and after the 2015 introduction of inactivated polio vaccine (IPV). IPV introduction increased the number of injectable vaccines recommended for the 4-month immunization visit from two to three in The Gambia.MethodsWe conducted a cross-sectional questionnaire-based survey before and after the introduction of IPV at 4 months of age in a representative sample of all health facilities providing immunizations in The Gambia. Healthcare providers who administer vaccines at the selected health facilities and caregivers who brought infants for their 4 month immunization visit were surveyed.FindingsPrior to IPV introduction, 9.9% of healthcare providers and 35.7% of infant caregivers expressed concern about a child receiving more than 2 injections in a single visit. Nevertheless, 98.8% and 90.9% of infants received all required vaccinations for the visit before and after IPV introduction, respectively. The only reason why vaccines were not received was vaccine stock-outs. Infant caregivers generally agreed that vaccinators could be trusted to provide accurate information regarding the number of vaccines that a child needed.ConclusionHealthcare providers and infant caregivers in this resource limited setting accepted an increase in the number of injectable vaccines administered at a single visit even though some expressed concerns about the increase.     

Pacifiplex: an ancestry-informative SNP panel centred on Australia and the Pacific region

The analysis of human population variation is an area of considerable interest in the forensic, medical genetics and anthropological fields. Several forensic single nucleotide polymorphism (SNP) assays provide ancestry-informative genotypes in sensitive tests designed to work with limited DNA samples, including a 34-SNP multiplex differentiating African, European and East Asian ancestries. Although assays capable of differentiating Oceanian ancestry at a global scale have become available, this study describes markers compiled specifically for differentiation of Oceanian populations. A sensitive multiplex assay, termed Pacifiplex, was developed and optimized in a small-scale test applicable to forensic analyses. The Pacifiplex assay comprises 29 ancestry-informative marker SNPs (AIM-SNPs) selected to complement the 34-plex test, that in a combined set distinguish Africans, Europeans, East Asians and Oceanians. Nine Pacific region study populations were genotyped with both SNP assays, then compared to four reference population groups from the HGDP-CEPH human diversity panel. STRUCTURE analyses estimated population cluster membership proportions that aligned with the patterns of variation suggested for each study population’s currently inferred demographic histories. Aboriginal Taiwanese and Philippine samples indicated high East Asian ancestry components, Papua New Guinean and Aboriginal Australians samples were predominantly Oceanian, while other populations displayed cluster patterns explained by the distribution of divergence amongst Melanesians, Polynesians and Micronesians. Genotype data from Pacifiplex and 34-plex tests is particularly well suited to analysis of Australian Aboriginal populations and when combined with Y and mitochondrial DNA variation will provide a powerful set of markers for ancestry inference applied to modern Australian demographic profiles. On a broader geographic scale, Pacifiplex adds highly informative data for inferring the ancestry of individuals from Oceanian populations. The sensitivity of Pacifiplex enabled successful genotyping of population samples from 50-year-old serum samples obtained from several Oceanian regions that would otherwise be unlikely to produce useful population data. This indicates tests primarily developed for forensic ancestry analysis also provide an important contribution to studies of populations where useful samples are in limited supply.     

Spatio-temporally controlled transfection by quantitative injection into a single cell

Transfection-based cellular control has been widely used in biology; however, conventional transfection methods cannot control spatio-temporal differences in gene expression or the quantity of delivered materials such as external DNA or RNA. Here, we present a non-viral and spatio-temporally controlled transfection technique of a quantitative injection into a single cell. DNA was quantitatively injected into a single cell at a desired location and time, and the optimal gene delivery and expression conditions were determined based on the amount of the delivered DNA and the transfection efficacy. Interestingly, an injection of 1500 DNAs produced an about average 30% gene expression efficiency, which was the optimal condition, and gene expression was sustained for more than 14 days. In a single cell, fluorescent intensity and polymerase chain reaction (PCR) results were compared for the quantity of gene expression. The high coincidence of both results suggests that the fluorescence intensity can reveal gene expression level which was investigated by PCR. In addition, 3 multiple DNA genes were successfully expressed in a single cell with different ratio. Overall, these results demonstrate that spatio-temporally controlled transfection by quantitative transfection is a useful technique for regulating gene expression in a single cell, which suggests that this technique may be used for stem cell research, including the creation of induced pluripotent stem (iPS) cells.