胶质瘤bcd—2基因表达水平与其细胞增殖和凋亡关系的研究

目的 探讨胶质瘤细胞ｂｃｌ－２基因表达水平与肿瘤恶性程度、细胞增殖活性及凋亡程度的关系。方法 以６９例不同级别的人胶质瘤组织为研究对象,用原位杂交及免疫组化染色ＡＢＣ法分别检测ｂｃｌ－２ｍＲＮＡ、ｂｃｌ－２蛋白和增殖细胞核抗原（细胞增殖活性标记物）的表达,并用３’末标记法做原位细胞凋亡检测。结果 ６４例（９２．８％）表达ｂｃｌ－２ｍＲＮＡ,６０例（８７．０％）表达ｂｃｌ－２蛋白,两者的表达水平呈正     

How to use Chlamydia antibody testing in subfertility patients

Screening for tubal factor subfertility by means of Chlamydia antibody testing (CAT) was introduced into the initial work-up of subfertile couples several years ago. The results reported, however, are heterogeneous, and no uniformity exists in cut-off levels of titres, or in definitions of tubal factor subfertility. We performed a prospective cohort study to evaluate the implications of varying the definitions of tubal pathology and of modifying the cut-off levels on the clinical impact of CAT in predicting tubal factor subfertility. In 227 consecutive patients who attended our fertility clinic, the Chlamydia IgG antibody titre was determined and related to tuboperitoneal abnormalities at laparoscopy as a reference standard. According to received operating characteristic (ROC) curve analysis, a titre of 16 is the optimum cut-off level. Increasing the cut-off level improves specificity and positive likelihood ratio (LR+), at the expense of sensitivity and negative LR (LR-). Changing the definition of tubal factor subfertility from unspecified tuboperitoneal abnormalities into extensive adhesions and/or bilateral distal tubal occlusion improves LR+, LR- and kappa significantly. We conclude that CAT is more accurate in predicting severe distal tubal pathology than unspecified tuboperitoneal abnormalities. Although from a statistical point of view a titre of 16 is the optimum cut-off level, from a clinical point of view 32 or 64 may be preferable, depending on the aim of screening and the inception cohort.      

Malignancy may adversely influence the quality and behaviour of oocytes

A case series of eight cycles of in-vitro fertilization (IVF) in five women diagnosed with malignant disorders is presented. These patients chose to defer definitive treatment for a chance for preservation of potential fertility. The response of these patients to ovarian stimulation, and the outcome, was compared with 17 IVF cycles in 12 age- matched patients with isolated tubal infertility. An apparent adverse influence of malignant disease on the quality and behaviour of oocytes was observed. Despite a comparable total number of oocytes per cycle in the two groups, a significantly reduced percentage of mature oocytes was retrieved per cycle from patients with malignant diseases. The oocytes from patients with malignant disorders were of a poorer quality and exhibited a significantly impaired fertilization rate compared to the controls. We propose that neoplastic processes, irrespective of the site or cell of origin, may have a detrimental impact on the biology of oocytes, an effect akin to that seen on spermatozoa in men with certain malignancies.      

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)

Mutations in the PEX gene at Xp22.1 (phosphate-regulating gene with homologies to endopeptidases, on the X-chromosome), are responsible for X-linked hypophosphataemic rickets (HYP). Homology of PEX to the M13 family of Zn2+ metallopeptidases which include neprilysin (NEP) as prototype, has raised important questions regarding PEX function at the molecular level. The aim of this study was to analyse 99 HYP families for PEX gene mutations, and to correlate predicted changes in the protein structure with Zn2+ metallopeptidase gene function. Primers flanking 22 characterised exons were used to amplify DNA by PCR, and SSCP was then used to screen for mutations. Deletions, insertions, nonsense mutations, stop codons and splice mutations occurred in 83% of families screened for in all 22 exons, and 51% of a separate set of families screened in 17 PEX gene exons. Missense mutations in four regions of the gene were informative regarding function, with one mutation in the Zn2+-binding site predicted to alter substrate enzyme interaction and catalysis. Computer analysis of the remaining mutations predicted changes in secondary structure, N-glycosylation, protein phosphorylation and catalytic site molecular structure. The wide range of mutations that align with regions required for protease activity in NEP suggests that PEX also functions as a protease, and may act by processing factor(s) involved in bone mineral metabolism.      

内骨架一体化小腿假肢的生物力学研究

一体化假肢是以聚合物为材料从接受腔到假腿一体成型的新型下肢假肢，它比传统型假肢更经济、美观、轻便，具有较大的应用前景。目前的相关研究主要集中在设计与制作及少量的临床研究方面。由于一体化假肢与传统型假肢在结构上的差异，有必要对其进行应力分析。本研究的目的是开展内骨架一体化假肢的生物力学研究，本研究基于内骨架一体化小腿假肢的真实几何构型，建立三维有限元模型，计算该模型在模拟Heel OH步态时相的载荷作用下的应力分布；在保持该模型的几何形状不变的情况下，建立了三个不同壁面厚度的一体化小腿假肢的有限元模型，分析壁面厚度对一体化小腿假肢应力分布的影响；通过分别赋予模型四种不同高分子聚合物的材料力学特性值，分析不同材料的一体化假肢的应力分布特点；分别对模型施加与正常步态的五个典型时相对应的载荷，分析一体化小腿假肢在各步态时相的应力分布特点。本研究结果对一体化假肢设计有指导价值。     

42例晚期糖尿病肾病的血液透析治疗

目的:探索出晚期糖尿病肾病患者在血液透析过程中,如何减少并发症,提高对并发症的疗效,延长存活寿命,提高生活质量.方法:除应用一般性碳酸盐透析外,采用不同透析技术,重点对充血性心力衰竭、心包炎、高血压、低血压、贫血以及胰岛素的使用提出了特殊治疗方案.结果:经采取不同透析技术,提高了对并发症的疗效,提高了病人生活质量,降低了死亡率.结论:对晚期糖尿病肾病患者,尽量做到早透析,透析个体化,根据病情采取不同治疗方案,这是减少并发症提高存活率的关键.     

Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms

Impaired expression of the FMR1 gene is responsible for the fragile X mental retardation syndrome. The FMR1 gene encodes a cytoplasmic protein with RNA-binding properties. Its complex alternative splicing leads to several isoforms, whose abundance and specific functions in the cell are not known. We have cloned in expression vectors, cDNAs corresponding to several isoforms. Western blot comparison of the pattern of endogenous FMR1 proteins with these transfected isoforms allowed the tentative identification of the major endogenous isoform as ISO 7 and of a minor band as an isoform lacking exon 14 sequences (ISO 6 or ISO 12), while some other isoforms (ISO 4, ISO 5) were not expressed at detectable levels. Surprisingly, in immunofluorescence studies, the transfected splice variants that exclude exon 14 sequences (and have alternate C-terminal regions) were shown to be nuclear. Such differential localisation was however not seen in subcellular fractionation studies. Analysis of various deletion mutants suggests the presence of a cytoplasmic retention domain encoded in exon 14 and of a nuclear association domain encoded within the first eight exons that appear however to lack a typical nuclear localisation signal.      

聊城市5起新型冠状病毒肺炎聚集性疫情流行病学分析

目的 分析新型冠状病毒肺炎(简称新冠肺炎)聚集性疫情的流行病学特征,为制定疫情防控策略和措施提供科学依据。 方法 于2020年1月24日—2月11日在聊城市应用现场流行病学方法调查5起新冠肺炎聚集性疫情所涉及的41例确诊病例及无症状感染者, 对相关标本采用实时荧光定量RT-PCR方法进行核酸检测。 结果 5起聚集性疫情的首发病例续发率为2.78%~50.00%,差异有统计学意义(χ²=21.57,P<0.01);家庭聚集性疫情涉及32例、10户家庭(族),公共场所聚集性疫情涉及16例、2个场所。一、二、三代病例分别有5、22、12例,传染率分别为100.00%、18.18%、0.00%。4例病例的潜伏期为5~10 d,中位数为7.5 d;聚集性疫情中存在潜伏期传播。有疫区旅行史或居住史者4例(9.76%),与潜伏期病例或确诊病例有密切接触、频繁交谈等有30例(73.17%),暴露于高浓度气溶胶4例(9.76%),未知感染来源3例(7.32%)。 结论 新冠病毒极易引起聚集性疫情,控制本地的聚集性疫情是防控工作的重点;新冠病毒可以通过高浓度气溶胶传播;病例在潜伏期具有感染性。     

家庭生态系统视角下长子女情绪和行为问题研究

目的 研究二孩家庭中长子女情绪和行为问题现状,并在家庭生态系统内分析其影响因素。方法 于2020年4-7月在河南省商丘市选取538名长子女为研究对象,采用长处和困难问卷、儿童版父母教养方式问卷以及家庭亲密度和适应性量表进行调查。 结果 长子女情绪和行为困难总分异常检出率为15.1%(81/538),多因素Logistic回归分析显示,8~13岁的年龄差(OR=2.406,95% CI:1.159～4.995),竞争的同胞关系(OR=4.773,95% CI:1.933～11.785),父/母亲过度保护(OR=2.821,95% CI:1.076～7.392)/(OR=4.113,95% CI:1.903～8.890)、父亲拒绝(OR=3.215,95% CI:1.324～7.807)的教养方式,以及规律型家庭(OR=4.055,95% CI:1.312～12.533)中长子女情绪行为异常风险显著升高;而相较于抑郁质,其他气质类型长子女情绪行为异常风险显著降低(OR=0.227、0.228、0.230,95% CI:0.073～0.707、0.069～0.754、0.071～0.744),相较于低收入家庭(月收入＜2 000元),其他高收入家庭长子女情绪行为异常风险显著降低(OR=0.272、0.334、0.133、0.228;95% CI:0.095～0.778、0.119～0.939、0.035～0.501,0.056～0.924)。结论 二孩家庭中长子女情绪行为问题高于同期儿童青少年水平,需关注二孩家庭中的长子女,根据不同特征的个体进行针对性的干预。