辽宁地区人乳头瘤病毒的感染状态及其高危基因型的分布情况

  目的 研究辽宁地区人乳头瘤病毒（HPV）的感染状态和其主要高危基因型别的分布情况。方法 应用特异PCR检测辽宁地区24 041名女性HPV DNA及其主要高危型别的分布。结果 辽宁地区女性人群中HPV总感染率为45.6%（95%CI 44.97%~46.23%）,其中28.25%（95%CI 27.68%~28.82%）为HPV机会性感染,17.35%（95%CI 16.87%~17.83%）为持续性感染率。持续感染性HPV的主要高危基因型别依次为HPV-16（18.21%,95%CI 17.04%~19.38%）、HPV-58（13.2%,95%CI 12.17%~14.23%）、HPV-18（8.66%,95%CI 7.81%~9.51%）、HPV-52（7.06%,95%CI 6.28%~7.84%）及 HPV-33（6.78%,95% CI 6.02%~7.54%）。结论 在辽宁地区女性人群中主要持续感染HPV-16、HPV-58、HPV-18、HPV-52和HPV-33五种高危基因型别。     

First case of hepatitis C virus transmission by a red blood cell concentrate after introduction of nucleic acid amplification technique screening in Germany: a comparative study with various assays

BACKGROUND AND OBJECTIVES: Pooled nucleic acid amplification techniques (NAT) and donor screening for anti-hepatitis C virus (HCV) have reduced the diagnostic window period of HCV infection in the blood donor population from about 12 to 1 or 2 weeks. During that time, HCV RNA is hardly detectable by pooled or individual donation NAT. Here we describe a case of transfusion-acquired HCV infection from an extremely low-titre donation. After a repeat donor tested positive for HCV, a look-back procedure was initiated. A recipient of a red cell concentrate from the previous donation was identified and found to be infected with HCV as well. We compared several commercial NAT systems for their ability to detect the viraemic plasma. MATERIALS AND METHODS: Molecular analyses of HCV in donor and recipient samples were performed. The HCV-transmitting plasma was tested using different commercially available qualitative and quantitative NAT assays. RESULTS: HCV transmission was verified by molecular analyses and was assigned to genotype 2b. NAT with various commercial HCV assays detected the infection erratically in individual donations. However, the detection rate was not directly related to the claimed sensitivity of some HCV NATs. CONCLUSIONS: HCV transmission can be caused by donations that escape NAT detection even when tested in an individual donation. Comparison of different assays led to results that did not necessarily reflect the expected sensitivities. The need for standard materials representing further HCV genotypes is discussed.     

中国人群中载脂蛋白E等位基因型与阿尔茨海默病的相关性分析

目的：研究中国人群中载脂蛋白E等位基因型与阿尔茨海默病的关联。方法：利用PCR和限制性内切酶酶解,分析阿尔茨海默病患者及正常老年人载脂蛋白E各等位基因、基因型的频率。结果：ApoEε2、ApoEε3、ApoEε4这三个等位基因出现的次数（和频率）在56例散发性阿尔茨海默病（AD）患者中分别3(2．7％）、84（75．0％）、25（22．3％）,而在67例健康对照中分别为9（6．7％）、115（85．8％）、10（7．5％）。ApoEε4等位基因在AD患者中出现的频率明显高于对照组,统计学处理说明其差异有显著性（χ^2=10.99,P＜0．01,OR＝3．59,95％CI＝1．54－8．41）;ApoEε3等位基因在AD组中出现的频率低于对照组,两组中的差异也有统计学意义（P＜0．05）。结论：ApoEε4等位基因是AD的危险因素,ApoEε3等位基因在AD的发生中可能具有一定保护作用。     

慢性丙型肝炎患者对NS3／4A蛋白酶抑制剂预存耐药的研究

目的对我国南方184例无抗病毒治疗史的慢性丙型肝炎患者进行NS3／4A蛋白酶抑制剂相关耐药位点检测。方法NS3／4A蛋白酶抑制剂相关的耐药位点分析采用自行设计型别特异性引物行巢式PCR．PCR产物经纯化后采用直接测序法鉴定。结果184例样本中有162例扩增成功,其中125例（77．16％）患者共检出266个变异位点。HCVlb型A156S变异率为18．33％,V170I为16．67％;HCV2a型V36L、Q80G、V170I变异率为100％,A156S为64．29％;HCV6a型Q80K变异率为95．45％,V170I为98．86％。结论未使用抗病毒药的慢性丙型肝炎患者对NS3／4A蛋白酶抑制剂也存在预存耐药,变异率因HCV基因型而不同。1b型发生变异较少,HCV2a型及6a型普遍发生变异。     

天津市北京基因型结核分枝杆菌流行特征及与耐药表型关系研究

目的 了解北京基因型结核分枝杆菌在天津市人群中的分布、流行特征及其与耐药表型的关系.方法 收集2008年1月至2009年6月天津市结核病控制中心和10个区(县)结核病防治机构肺结核患者中初次分离培养的结核分枝杆菌656株及患者管理信息、临床信息和实验室信息.菌株对利福平、异烟肼、链霉素和乙胺丁醇的药物敏感性试验采用比例...     

“Geographical distribution of risk genotypes in pediatric patients with celiac disease in Spain”

Celiac disease is strongly associated with HLA DQ, specifically with haplotypes.DRB1*03-DQA1*05:01/DQB1*02:01 (DQ2.5), DRB1*07-DQA1*02:01/DQB1*02:02 (DQ2.2), DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), and DRB1*04-DQA1*03:01/DQB1*03:02 (DQ8). The distribution of these risk haplotypes in patients with celiac disease is different in the geographical areas investigated. A high frequency of DRB1*07- DQA1*02:01/DQB1*02:02 (DQ2.2) and DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), has been described in Southern Europe.We analyzed 2102 confirmed CD cases with information on both DQB1* alelles and their distribution by geographical area in Spain. According to the presence of this haplotype in one or two chromosomes, the genotype is classified in: DQ2 homozygous, DQ2 heterozygous (cis or trans), DQ8 homozygous, DQ8/DQ2.5, DQ 2.2 homozygous and genotype known as “half DQ2”.Two different patterns of risks related to CD were identified. In the Basque Country and Navarre, the Mediterranean Area (Aragon, Catalonia, Valencia, Balearic Islands, and Murcia), the South of Spain (Andalucía and Extremadura), and the Canary Islands, higher frequency of DQ2.5 trans, and more than 80% of DQ2.5/DQ2.2 homozygosis were described. The Cantabrian Coast (Cantabria, Asturias, and Galicia) and Central Areas (Castilla-León and Castilla-La Mancha) showed a higher percentage of DQ2.5/DQ2.5 homozygosis and a lower DQ2.5 in trans frequency, as in Northern Europe. Madrid has an intermediate model between the two described above. 17 cases (0.8%) did not carry any CD risk haplotypes.     

Extended human papillomavirus genotype distribution in cervical intraepithelial neoplasia and cancer: Analysis of 40 352 cases from a large academic gynecologic center in China

Our aim was to conduct a large epidemiologic analysis of the distribution of human papilloma virus (HPV) genotypes associated with cervical neoplasias and cancers at a major Chinese gynecologic center. The pathologic database was searched for cervical histopathologic diagnoses with prior HPV genotyping from liquid cervical cytology specimens obtained ≤6 months before biopsy. HPV testing was performed by using the Tellgenplex HPV27 or YanengBio HPV23 genotyping assays. A total of 40 352 cases meeting study criteria were identified. High risk human papillomavirus (hrHPV) was detected in 94.1% of squamous cancers compared to in only 83.3% of cervical adenocarcinomas. The prevalence of multiple HPV infections was highest in cervical intraepithelial neoplasia 1 (CIN1) (33.8%) and decreased with increasing severity of squamous lesions. The distribution of HPV genotypes was similar between CIN1 and histopathologic-negative cases. HPV16 was one of the three most common hrHPV genotypes before all histopathologic abnormalities, ranging from 72.0% for cervical cancers, 38.7% for CIN2/3/AIS, 13.1% for CIN1, and 9.1% for biopsy-negative cases. HPV16 and HPV18 accounted for over 87.2% of detected hrHPV genotypes for all glandular intraepithelial neoplastic lesions and cancers, whereas squamous lesions did not show this pattern. 80.3% of cervical cancers were associated with genotypes covered by HPV16/18 vaccines and 89.6% with genotypes covered by 9-valent vaccination.     

Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort

PurposeExpanded pan-ethnic carrier screening is an effective tool for the management of reproductive risk. However, growth in the number of conditions screened, in combination with increasingly more comprehensive test methodologies, can lead to the detection of genetic findings that may affect the health of the tested individual. The objective of this study was to investigate the frequency of pathogenic genotypes in a presumed healthy carrier screening cohort to facilitate broader discussions regarding disclosure of genetic information from carrier screening.MethodsA retrospective analysis of 73,755 targeted carrier screens was performed to identify individuals with pathogenic genotypes and heterozygous risk alleles.ResultsIn this study, we identified 79 individuals (0.11%) with pathogenic genotypes associated with moderate to profound autosomal recessive or X-linked conditions. In addition, 10 cases had chromosome X dosage abnormalities suggestive of a sex chromosome abnormality. Heterozygote risk alleles represented the majority of ancillary findings in this cohort, including 280 female carriers of FMR1 premutation alleles, 15 heterozygous females with pathogenic DMD variants, and 174 heterozygotes with pathogenic variants in genes that may confer increased risk for somatic malignancies in the heterozygous state.ConclusionThese data suggest that nearly 1% of individuals undergoing carrier screening will have a finding that may require clinical evaluation or surveillance.     

新疆喀什11个团场5199名女性人乳头状瘤病毒感染情况分析

目的 探讨新疆喀什11个团场地区女性人乳头瘤病毒(human papilloma virus，HPV)阳性感染情况，为少数民族地区宫颈癌防控策略提供参考依据。方法 选取2020年3月至6月5 199例女性的宫颈上皮脱落细胞标本，采用基因扩增及导流杂交技术对14 种HPV亚型进行分型检测。结果 共检出HPV阳性样本554例，阳性率10.66%，其中单一感染占比5.04% ，多重感染占比1.90%，单一感染率高于多重感染率。维吾尔族女性的HPV总感染率与HPV-16/18感染率均显著高于汉族女性。30~39岁年龄段HPV检出率最高，其次为60~69岁，检出率分别为13.61%、10.63%。结论 新疆喀什11个团场地区女性中年和老年妇女HPV 感染率偏高，维吾尔族女性较汉族女性更易感HPV病毒，且单一型、HPV-16和HPV-18基因亚型多见，预防接种应选用包含这两种亚型的疫苗。