Application of chromosomal microarray in the evaluation of abnormal prenatal findings

We performed karyotype and array comparative genomic hybridization (aCGH) analyses on 177 prenatal samples, including 162 (92%) samples from fetuses with sonographic anomalies. Overall 12 fetuses (6.8%) had abnormal karyotype and 42 (23.7%) fetuses had abnormal microarray results: 20 (11.3%) with pathogenic copy number variations (CNVs), 16 with CNVs of uncertain clinical significance, 4 with CNVs establishing carrier status for recessive, X‐linked, or susceptibility to late onset dominant disease, and two CNVs with pseudomosaicism due to in vitro cultural artifacts. For 23 pregnancies (13%), aCGH contributed important new information. Our results highlight the interpretation challenges associated with CNVs of unclear significance, incidental findings, as well as technical aspects. Array CGH analysis significantly improved the detection of genomic imbalances in prenatal diagnosis of pregnancies with structural birth defects.     

Pregnancy Intention and Pregnancy Outcome: Systematic Review and Meta-Analysis

Maternal and Child Health Journal - Introduction Previous systematic reviews concluded that rigorous research on the relationships between pregnancy intentions and pregnancy outcomes is limited....     

2008—2020年内蒙古自治区丙型病毒性肝炎流行特征分析

目的 分析内蒙古2008—2020年丙型肝炎流行特征,为制定丙肝防控措施提供理论基础。方法 收集中国传染病信息报告管理系统中2008—2020年丙肝报告病例,采用描述性流行病学方法分析丙肝的流行特征。结果 2008—2020年内蒙古累计报告丙肝病例91 525例,年平均报告发病率28.24/10万,发病率呈上升趋势。报告病例男女性别比例1.43:1。各年龄组均有发病,在50～65岁年龄段发病人群最多,≥65岁以上人群发病率最高。职业以农民为主占47.58%。全区各盟市丙肝疫情差别较大,赤峰市疫情最为严重,发病率高达59.79/10万。病例以确诊病例为主,占全部病例的75.94%,但数据质量有待核查。结论 内蒙古丙肝疫情发病率明显高于全国其他省份,应提高数据报告质量同时加强流行病学调查,制定针对性措施控制丙肝疫情蔓延。     

神经网络预后评价在脑胶质瘤患者术后生存质量分析中的应用

目的构建COX比例风险预测模型与人工神经网络预测模型,对脑胶质瘤患者术后生存质量进行评价,为临床医师提供简单、准确的评估方法。方法收集2010年6月至2013年8月山西省肿瘤医院收治的58例脑胶质瘤患者的住院治疗及随访资料的年龄、性别、职业等人口学特征,患者入院时的症状、体征、核磁共振成像(magnetic resonance imaging,MRI)检查、病理诊断分型等,肿瘤切除程度、免疫组化检查及Karnofsky功能状态(Karnofsky performance status,KPS)评分等,筛选有意义因素,建立COX比例风险模型,采用预后指数分层和人工神经网络模型,预测患者术后1年生存质量;并采用ROC分析,对两种方法的预测能力进行评价。结果 COX比例风险模型分析表明,伴有癫痫、术前KPS评分、KI67、病理级别、肿瘤切除程度、血供、肢体活动障碍是影响脑胶质瘤患者术后生存质量的主要影响因素。COX比例风险预测模型的灵敏度为60.0%,特异度为83.3%;人工神经网络预测模型的灵敏度为80.0%,特异度为83.3%。结论人工神经网络模型的预测效果优于COX比例风险模型,人工神经网络可为临床医师评价脑胶质瘤患者术后生存质量提供个体化治疗方法。     

Basement Membrane Matrix (BME) has Multiple Uses with Stem Cells

The utilization of basement membrane matrix has helped to overcome many of the obstacles associated with stem cell research. Initially, there were several problems with investigating stem cells, including difficult extraction from tissues, the need for feeder layers, poor survival, minimal proliferation, limited differentiation in vitro, and inadequate survival when injected or transplanted in vivo. Given that the basement membrane is the first extracellular matrix that is produced by the developing embryo, it was quickly identified as an important factor for modulating stem cell behavior, and since then, basement membrane extract (BME) has been successfully employed in numerous methods as a substratum in vitro and as a bioactive support in vivo to overcome many of these problems. A thin BME coating is sufficient to maintain an undifferentiated phenotype during embryonic stem cell expansion, while a thick BME hydrogel may be employed to induce stem cell differentiation. BME also promotes stem cell survival for in vivo applications and provides a physiological environment for evaluating stem cell co-culture with other cell types. The present article provides a concise review of current methodologies utilizing BME for stem cell research.     

陕西省部分地区慢性阻塞性肺疾病流行情况及相关危险因素

目的  了解陕西省部分地区40岁及以上人群慢性阻塞性肺疾病（chronic obstructive pulmonary disease,COPD）的患病情况及影响因素。 方法  采用多阶段分层整群抽样的方法,在陕西省3个项目县区抽取了1 800名40岁及以上常住居民进行问卷调查、身体测量及肺功能检测,采用χ²检验和二分类Logistic回归分析模型对影响COPD患病率的相关因素进行分析。 结果  共获得有效样本1 638例,陕西省部分地区COPD的患病率为13.8%。其中男性患病率（18.5%）高于女性（9.6%）（χ²=27.399,P < 0.001）;70岁及以上年龄组患病率最高,占22.5%,其次为60~岁、50~岁和40~岁,患病率分别为20.4%、12.9%和8.5%,且随着年龄的增长患病率逐渐上升（χ_趋势²=31.970,P < 0.001）。多因素Logistic回归分析模型得出,年龄（OR=2.86,95% CI：1.52~5.39,P=0.001）,吸烟（OR=1.60,95% CI：1.12~2.27,P=0.031）,有呼吸系统疾病家族史（OR=1.83,95% CI：1.05~3.18,P=0.008）是居民患COPD的危险因素。 结论  陕西省部分地区居民COPD患病率较高,高龄、吸烟、有呼吸系统疾病家族史是患COPD的危险因素。     

Perception of direction in the right and left visual fields

The accuracy of recognition of the direction of lines and of nonsense words tachistoscopically exposed in the left and right visual fields in normal right-handed subjects was determined. The subjects showed a significant left field superiority for the recognition of direction and a significant right field superiority for the recognition of words. Theresults are interpreted as confirming the hypothesis, generated from previous studies of tactile recognition of direction in patients with unilateral cerebral disease, that the right hemisphere plays a distinctively important role in the perception of directionality. The findings also support the validity of the concept of a supramodal spatial factor underlying performance in different sensory spheres.     

抗HIV药物跨血液-中枢神经系统转运

高效抗逆转录病毒疗法（包括HIV蛋白酶抑制剂、核苷逆转录抑制剂、非核苷逆转录抑制剂、核苷酸逆转录抑制剂）的出现显著降低了发达国家HIV感染的发病率和死亡率,但每年仍有几百万人死于HIV。尽管治疗失败的原因很多,但最重要的因素是中枢神经系统（CNS）中HIV的治疗和控制。由于受限制性细胞旁活动、强效代谢酶和很多转运子（包括ATP结合盒和可溶性载体超家族）的影响,抗HIV药物的CNS传递受血-脑屏障（BBB）和血-脑脊液屏障的限制。对位于脑屏障的转运子的深入认识将极大推动对抗HIV药物脑内渗透受限机制的了解,并有助于开发新型抗HIV药物和药物联用,提高其在CNS中的疗效。本文概述抗HIV药物跨BBB和脉络丛转运的研究进展。