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1.
正自人类微生物组计划启动以来,研究发现人体肠道内存在有1 000多种共生菌,主要包括Bacteroidetes、Firmicutes、Proteobacteria等菌门~([1]),它们寄居在肠道的不同部位,通过特有的菌群结构、菌群活动、代谢产物等来影响机体的新陈代谢,维持机体内  相似文献   

2.
目的探索肠道菌群与血清二胺氧化酶(diamine oxidase, DAO)水平之间的相关性, 对DAO高水平(DAO-H)人群和正常人群的肠道菌群特征进行差异性分析。方法在战略支援部队特色医学中心2021年健康体检人群中招募62名成年志愿者, 其中DAO-H人群31名, 正常人群31名, 采集粪便样本, 通过使用16S rRNA全长基因测序技术, 对所有受试者粪便样本进行分析, 研究不同DAO水平人群的肠道菌群构成特征。结果 DAO-H人群肠道菌群α多样性与正常人群差异无统计学意义, 但是菌群结构和功能改变:共生细菌减少, 如Phocaeicola、拟杆菌科细菌等;潜在致病菌增加, 如肺炎克雷伯菌。DAO-H组的菌群代谢发生变化, 菌群鞘脂代谢水平降低, 万古霉素类抗生素生物合成(biosynthesis of vancomycin group antibiotics)、叶酸一碳库(one carbon pool by folate)、萜类骨架生物合成(terpenoid backbone biosynthesis)、细胞周期-Caulobacter(cell cycle-Caulo...  相似文献   

3.
目的探讨超声心动检查联合孕妇血清微小RNA-19b(miRNA-19b)、甲胎蛋白(Alpha-fetoprotein,AFP)测定对胎儿先天性心脏病诊断的临床价值,以提高疾病的阳性检出率。方法选取2016年1月~2019年4月我院行产检的2352例孕妇为研究对象,136例失访,根据生产结局,将孕妇分成异常组(n=26)和正常组(n=2190)。于妊娠15~21w对其胎儿行超声心动检查,t检验比较血清miRNA-19b和AFP水平,应用受试者工作特征(Receiver operating characteristic,ROC)曲线评估单一指标及联合诊断胎儿先天性心脏病的诊断效能。结果在受检孕妇中,超声心动图检查诊断先天性心脏病胎儿716例,法洛四联症125例,室间隔缺损268例,完全性房间隔缺损131例,心房异构86例,永存动脉干106例;异常组患者血清AFP和miRNA-19b水平明显高于正常组(P0.05);超声心动图诊断胎儿先天性心脏病对应的灵敏度为76.92%、特异度为68.22%、约登指数为0.451、ROC曲线下面积为0.807(95%CI 0.751~0.863);血清miRNA-19b诊断胎儿先天性心脏病临界值为4.55,对应灵敏度为65.38%、特异度为69.82%、约登指数为0.352、ROC曲线下面积为0.737(95%CI 0.673~0.801);血清AFP诊断胎儿先天性心脏病临界值为32.6ug/L,对应的灵敏度为61.53%、特异度为61.55%、约登指数为0.230、ROC曲线下面积为0.651(95%CI 0.578~0.725);三者联合诊断胎儿先天性心脏病灵敏度为88.46%、特异度为60.96%、约登指数为0.494、ROC曲线下面积为0.879(95%CI 0.835~0.923),联合诊断的灵敏度和约登指数高于超声心动检查联合孕妇血清miRNA-19b、AFP单独检测。结论超声心动检查联合孕妇血清miRNA-19b、AFP测定可有效提高冠心病诊断的各项性能指标,其中孕妇血清miRNA-19b、AFP是对超声心动检查很好的补充,对胎儿先天性心脏病早期诊断具有重要价值。  相似文献   

4.
目的本文旨在探讨利用大规模平行测序(MPS)技术对孕妇尿液中的游离DNA(cf DNA)进行胎儿21-三体(T21)无创产前检测的可行性。方法本研究选取10个胎儿羊膜穿刺核型分析结果正常和9个分析结果为T21的孕妇晨尿,对19个孕妇的尿液采用磁珠法提取cf DNA,构建文库,Hisq2000测序,测序结果用BWA软件比对序列,计算每个样本的21号染色体所的比对上的唯一读长(Read)比率,最后进行Mann-Whitney U-test检测分析两组样本是否有显著差异。结果胎儿21-三体的孕妇尿液cf DNA中21号染色体的百分含量与胎儿正常孕妇的有显著差异(P=0.04122)。结论对孕妇尿液中的游离DNA进行大规模平行测序可用于无创产前检测21-三体。  相似文献   

5.
目的 探究脂多糖结合蛋白基因(Lbp)敲除对小鼠肠道菌群结构的影响。方法 随机选取8只Lbp-/-小鼠作为Lbp-/-组,8只WT小鼠作为WT组。处死小鼠,解剖后取盲肠并编号,进行16S rRNA测序,采用OTU聚类分析、Alpha多样性分析、Beta多样性分析、门水平和属水平差异分析等方法分别对两组小鼠肠道菌群的丰度、多样性和物种组成进行研究。结果 与WT组相比,Lbp-/-组小鼠在门水平上,拟杆菌门(Bacteroidetes)相对丰度显著升高,柔膜菌门(Tenericutes)、厚壁菌门(Firmicutes)等相对丰度显著降低;在属水平上,拟杆菌属(Bacteroides)、普氏菌属(Prevotella)等相对丰度显著升高,Ⅳ梭菌属(Clostridium Ⅳ)、双歧杆菌属(Olsenella)等相对丰度显著降低。结论 Lbp敲除后拟杆菌属和普氏菌属丰度显著升高,这两类菌与多种肠道炎症性疾病密切相关,这为临床检测炎症相关疾病发生发展提供参考。  相似文献   

6.
目的研究胎膜早破孕妇阴道菌群特征, 找出相关细菌种类, 通过功能预测探索细菌与胎膜早破交联的相关功能通路, 并建立以阴道菌群特征为基础的预测模型。方法基于孕妇队列, 纳入35例未足月胎膜早破、180例足月胎膜早破和255例胎膜未早破足月分娩(对照组)孕妇。使用16S rRNA基因二代测序技术检测孕妇在妊娠16~28周时的阴道样本V3~V4高变区序列。分析并比较3组孕妇之间Alpha多样性、Beta多样性, 识别物种属性和代谢功能预测的差异。随后采用随机森林模型纳入阴道菌群物种以及危险因素, 建立胎膜早破发生的预测模型。结果未足月胎膜早破组与对照组相比, Alpha多样性更高(Observed features,P=0.022;Faithpd指数, P=0.024), Beta多样性也有显著差异(Unweighted-UniFrac, P=0.010;Jaccard指数, P=0.008)。未足月胎膜早破孕妇中, 巨型球菌Ⅰ型转化菌种显著增多(P=0.017), 穆氏乳杆菌显著减少(P=0.003)。而足月胎膜早破孕妇中, 巨型球菌属显著增多(P=0.009), 穆...  相似文献   

7.
目的:运用16S rRNA基因测序技术探讨博来霉素诱导的系统性硬化病(SSc)模型小鼠肠道菌群改变及醋酸泼尼松龙的干预作用。方法:博来霉素诱导建立SSc小鼠模型,醋酸泼尼松龙干预治疗28 d,设正常对照组。观察各组小鼠生存状态,天狼星染色观察组织病理改变及检测胶原纤维含量。利用16S rRNA基因测序技术对各组小鼠粪便DNA进行肠道菌群高通量测序分析。结果:与对照组比较,模型组小鼠出现精神萎靡,背部皮肤变硬、结痂,粘连皮下组织,皮肤及肺组织胶原纤维含量明显增多(P<0.01);肠道菌群物种丰度、谱系多样性降低(P<0.05);菌群结构发生显著变化,普雷沃氏菌科、普雷沃氏菌科_UCG-001、乳杆菌属、拟杆菌属丰度显著降低(P<0.05);螺杆菌、文肯菌属、瘤胃梭菌属_6、罗斯氏菌属、瘤球菌科_UCG-005丰度显著升高(P<0.05)。与模型组比较,醋酸泼尼松龙治疗组改善了SSc小鼠生存状态,明显下调皮肤及肺组织胶原纤维含量(P<0.01);增加了肠道菌群物种丰度及谱系多样性,但差异无统计学意义(P>0.05);逆转了普雷沃氏菌科、文肯菌属、瘤球菌科_UCG-005丰度变化趋势(P<0.05)。结论:博来霉素诱导的SSc小鼠肠道不同分类水平细菌丰富度、谱系多样性及菌群结构明显改变。SSc主要治疗药物糖皮质激素(GCs)醋酸泼尼松龙有限度地影响了SSc小鼠肠道菌群,但改善作用不明显。  相似文献   

8.
目的 对妊娠糖尿病(gestational diabetes mellitus,GDM)孕妇肠道菌群的丰度以及多样性进行评估分析,判断其与发病之间的关联,判断肠道菌群与病因之间的关联。方法 随机选取19例孕24~28周的GDM患者作为实验组,19例健康孕妇作为对照组。对所有受试者粪便标本中的肠道分离获得的肠道细菌16S rRNA基因的V4区分别进行高通量的测序和生物信息学分析。结果 两组研究对象肠道菌群的丰富度以及多样性大致相同。实验组厚壁菌门以及放线菌门的含量均明显少于对照组(χ2=729.902,P<0.001;χ2=26.880,P<0.001),而拟杆菌门以及变形菌门的含量高于对照组(χ2=428.233, P<0.001;χ2=545.707, P<0.001),实验组拟杆菌属、瘤胃球菌属、双歧杆菌属及乳酸杆菌属的含量均少于对照组(χ2=171.939, P <0.001;χ2=227.997, P<0.001...  相似文献   

9.
寄生蠕虫能否通过调节宿主肠道菌群进而改善炎症性疾病是近年的研究热点。为探讨旋毛虫感染对胶原诱导性关节炎(Collagen-Ⅱinduced arthritis,CIA)小鼠肠道菌群构成和丰度的影响,将15只小鼠随机分为正常对照组、关节炎(CIA)组和预先感染旋毛虫关节炎(CIA.TS)组,在首次胶原诱导后第50 d,取小鼠粪便进行16S rDNA测序,然后将CIA组和对照组之间的差异菌属与关节炎评分进行Spearman相关分析。结果显示,与对照组相比,CIA组小鼠菌群结构发生了明显的改变,其丰富度和多样性有上升趋势;在门水平上,脱铁杆菌门、变形菌门和梭杆菌门的丰度明显增加;在属水平上,未分类毛螺菌科、Mucispirillum属和脱硫弧菌属的丰度明显增加,Alistipes属和理研菌属的丰度明显减少。CIA组小鼠中丰度显著升高的菌属,其相对丰度与关节炎评分呈正相关;而丰度显著降低的菌属,其相对丰度与关节炎评分呈负相关。与CIA组相比,预先感染旋毛虫的关节炎小鼠(CIA.TS)菌群的丰富度和多样性有下降趋势,脱铁杆菌门和变形菌门的丰度明显减少,Mucispirillum属和脱硫弧菌属的丰度明显减少,理研菌属的丰度明显增加。以上结果表明,CIA小鼠肠道菌群结构改变与关节炎疾病严重程度密切相关,而预先感染旋毛虫可缓解CIA小鼠的关节炎症,其改善作用可能与调节CIA小鼠肠道菌群结构有关。  相似文献   

10.
目的分析一例产前超声提示先天性白内障胎儿的遗传学病因。方法抽取孕妇羊水、孕妇及其丈夫的外周血样,对胎儿及其父母行家系全外显子组测序,对候选致病变异用Sanger测序法进行验证。结果胎儿GJA8基因(NM_005267)存在c.136G>C(p.Gly46Arg)错义杂合变异,其父母该位点均为野生型。结论GJA8基因(NM_005267)c.136G>C(p.Gly46Arg)错义杂合变异可能是胎儿罹患先天性白内障的原因。  相似文献   

11.
Cytomegalovirus (CMV) causes congenital infection with high mortality and morbidity rates in affected neonates. The aim of this study was to assess whether prenatal clinical or laboratory findings in pregnant women who had high risks for primary CMV infection predicted the presence of congenital infection. Fifty pregnant women who had serum CMV IgG and positive or borderline tests for serum CMV IgM were included in this prospective study. Serum IgG avidity was measured, and PCR was conducted for CMV DNA in maternal serum, urine, and uterine cervical secretion. All neonates underwent PCR testing for CMV DNA in the urine for the presence of congenital infection. Risk factors were compared between congenital infection group and group without congenital infection. As a result, nine neonates (18%) were diagnosed as having congenital infection. The frequencies of ultrasound fetal abnormality and positive test for CMV DNA in cervical secretion, CMV IgM titer and IgM/IgG ratio in the congenital infection group were significantly higher than those in the group without congenital infection. Conversely, IgG avidity index in the congenital infection group was significantly lower than that in the group without congenital infection. By multivariate logistic regression analyses, IgG avidity index (Odds ratio 0.91, 95% CI: 0.83–0.99) and ultrasound fetal abnormality (291.22, 2.72–31125.05), were selected independently as significant signs predictive of congenital CMV infection. Among pregnant women with positive or borderline tests for CMV IgM, when they have findings of low serum CMV IgG avidity or ultrasound fetal abnormality, the probability of congenital CMV infection may increase. J. Med. Virol. 84:1928–1933, 2012. © 2012 Wiley Periodicals, Inc.  相似文献   

12.
The phenotypic manifestation of McArdle disease varies considerably from one individual to the next. The purpose of this study was to assess the possible association between the clinical severity of the disease, and each of the genotypes PYGM (R50X), ACE (I/D), AMPD1 (Q12X), PPARGC1A (G482S) and ACTN3 (R577X). We also assessed links between clinical disease severity and other potential phenotype modulators such as age or gender. McArdle disease was diagnosed in 99 patients of Spanish origin (60 male, 39 female; age range 8–81 years) by identifying the two mutant alleles of the PYGM gene. Disease severity was assessed using the grading scheme previously reported by Martinuzzi et al. [A. Martinuzzi, E. Sartori, M. Fanin, et al., Phenotype modulators in myophosphorylase deficiency, Ann. Neurol. 53 (2003) 497–502]. Significant correlation was observed (exact two-sided P < 0.0001) between the number of D alleles of the ACE gene and the disease severity score. Rank-order correlation coefficients were 0.296 (95% CI: 0.169, 0.423) (Kendall's τ) and 0.345 (95% CI: 0.204, 0.486) (Somer's D). No significant relationships were detected between clinical severity and the remaining genotypes examined. Finally, disease severity was significantly worse in women with the disease. Our findings indicate that both ACE genotype and gender contribute to how McArdle disease manifests in an individual patient. The role of other candidate genes remains to be elucidated.  相似文献   

13.

Background

This study aimed to test the hypothesis that immune dysfunction and the increased risk of spontaneous abortion in pregnant women with hyperandrogenia (HA) are caused by the reduced tolerogenic potential of dendritic cells (DCs) that results from elevated levels of dehydroepiandrosterone sulfate (DHEAS).

Methods

The phenotypic and functional properties of monocyte-derived DCs generated from blood monocytes from non-pregnant women, women with a normal pregnancy, or pregnant women with HA, as well as the in vitro effects of DHEAS on DCs in healthy pregnant women were investigated.

Results

In a normal pregnancy, DCs were shown to be immature and are characterized by a reduced number of CD83+ and CD25+ DCs, the ability to stimulate type 2 T cell responses and to induce T cell apoptosis. By contrast, DCs from pregnant women with HA had a mature phenotype, were able to stimulate both type 1 (IFN-γ) and type 2 (IL-4) T cell responses, and were characterized by lower B7-H1 expression and cytotoxic activity against CD8+ T cells. The addition of DHEAS to cultures of DCs from healthy pregnant women induced the maturation of DCs and increased their ability to activate type 1 T cell responses.

Conclusion

Our data demonstrated the reduction in the tolerogenic potential of DCs from pregnant women with HA, and revealed new mechanisms involved in the hormonal regulation of DCs mediated by DHEAS.  相似文献   

14.
孕妇巨细胞病毒感染对胎儿影响的前瞻性研究   总被引:12,自引:0,他引:12  
用酶联免疫吸附试验(ELISA)及聚合酶链反应(PCR)方法对沈阳市450名孕妇进行巨细胞病毒(CMV)筛查,并前瞻性追查到其婴儿100名CMV感染状况。结果孕妇97.11%为既往感染,0.89%为原发感染,11.11%为复发感染,仅2%为易感者。450例中感染组孕妇有畸形儿3例,流产3例,其胎儿感染率与致畸率明显高于对照组。100例母婴检查结果:感染组孕妇所生先天性感染儿比对照组多1.43倍(RR=1.43),感染组有2名低智儿,对照组无。本组早孕原发感染对胎儿危害最大,其宫内传播率为33.3%。感染组孕妇9例感染儿中2例巨细胞包涵体病,7例无症状。为了早期诊断达到优生目的,对孕妇进行CMV筛查是必要的,但筛查过程中发现有活动感染时处理要慎重,最好追查到羊水阳性时考虑终止妊娠。  相似文献   

15.
目的探讨产前超声诊断应用于先天心脏病合并心外畸形的临床价值及对优生优育的指导价值。方法选取2017年5月~2018年5月于我院接受产前超声诊断结果异常的132例孕妇作为主要研究对象,所有孕妇均接受产前超声诊断,并产后随访6个月,分析其CHD及合并心外畸形的类型,以及产前超声诊断的临床价值。结果132例参与研究的孕妇中,随访成功108例,随访率为81.82%。随访成功的108例孕妇中,共检出24例CHD胎儿,产前超声诊断检出21例,诊断准确率为87.50%,漏诊率为12.50%。19例仅引产后尸体解剖检查证实为CHD,5例经出生后超声复查证实为CHD。24例CHD胎儿中,单纯先天性心脏病13例,其中4例完全性大动脉移位、3例左心发育不良、1例法洛四联症、5例完全性心内膜垫缺损,合并心外畸形11例,其中1例三尖瓣下移畸形合并肾积水,肺囊腺癌、7例室间隔缺损合并肾积水,内腔反位,脐膨出、1例法洛四联症合并羊水少,脊柱侧弯、1例永存左上腔静脉合并肾积水、1例右室双出口合并马蹄内翻足。对11例CHD合并心外畸形的胎儿进行随访,其中10例选择引产,1例室间隔缺损合并肾积水,内腔反位,脐膨出的孕妇选择继续妊娠,产后随访妊娠结果与产前超声诊断结果基本相同。结论产前超声诊断应用于先天性心脏病合并心外畸形胎儿的临床价值较高,且对优生优育具有一定的指导作用。  相似文献   

16.

Objective

Women with a BRCA1/2 mutation or members of a hereditary breast ovarian cancer family (HBOC) have an increased risk of developing ovarian cancer. The only effective strategy to reduce this risk is a risk reducing salpingo-oophorectomy (RRSO). The aim of this study was to evaluate the short-term surgical outcome and safety of a RRSO.

Patient and methods

Included were all consecutive women with a BRCA1/2 mutation or members of a HBOC family who visited our Family Cancer Clinic between September 1995 and March 2006, and choose for RRSO.

Results

159 women were included, of which 97 (61.0%) BRCA1 and 32 (20.1%) BRCA2 mutation carriers, and 30 women of a HBOC family (18.9%). The median age at RRSO was 42.9 years (30.3–61.1) in the BRCA1 group, 48.4 years (33.5–66.9) in the BRCA 2 group and 46.4 (32.8–68.7) years in the HBOC group (p = 0.02). The median body mass index (BMI) was 24.9 kg/m2, 30.1% were overweighed (BMI 25–30) and 18.7% were obese (BMI > 30). The RRSO was performed by primary laparoscopy (n = 154) or laparotomy (n = 5). Intraoperatively, one (0.6%) major complication occurred and laparoscopy was converted to laparotomy. In one patient (0.6%) a minor complication occurred. Post-operatively five minor complications (3.1%) were observed. Median hospital stay was 1 day (0–13 days).

Conclusion

Laparoscopic RRSO in BRCA1/2 mutation carriers seems to be a safe procedure with a low intraoperative and post-operative complication rate (1.3% and 3.1% respectively), a low conversion rate (0.6%) and a short median hospital stay (1.0 day).  相似文献   

17.
目的探讨超声心动图用于胎儿先天性心脏病(CHD)的产前诊断价值。方法检索Cochrane图书馆、PubMed、OVID、Springer数据库、中国期刊全文网、万方数据库和中国生物医学文献数据库(从1990年1月至2009年1月)中的文献,按照诊断试验的严格纳入标准筛选文献,提取纳入文献的特征信息。采用Meta-DiSc1.4软件进行Meta分析,检验异质性,并根据异质性结果选择相应的效应模型。对所有文献予以加权定量合并,计算敏感度和特异度及其95%CI。绘制汇总受试者工作特征(SROC)曲线,并计算曲线下面积(AUC),最后进行敏感度分析。结果共纳入文献18篇,检查胎儿77939例。7篇文献采用基本心脏超声检查(BCEE)筛查胎儿CHD,研究间具异质性,采用随机效应模型,汇总敏感度、特异度和SROCAUC分别为41.7%、99.9%和0.9787。12篇文献采用扩展心脏超声检查(ECEE)筛查胎儿CHD,研究间具异质性,采用随机效应模型,汇总敏感度、特异度和SROCAUC分别为66.9%,99.9%和0.9956。ECEE的敏感度显著高于BCEE(χ2=63.93,P〈0.05)。对BCEE和ECEE筛查胎儿CHD的文献进行分层和敏感度分析,两种检查方法在妊娠中至晚期筛查胎儿CHD的敏感度均高于妊娠中期(χ2分别为5.47和39.37,P均〈0.05);ECEE筛查存在CHD低危因素孕妇的胎儿CHD的敏感度低于所有孕妇和存在CHD高危因素孕妇胎儿的敏感度,差异有统计学意义(χ2分别为81.82和156.58,P均〈0.05);ECEE筛查所有孕妇与存在CHD高危因素孕妇的胎儿CHD的敏感度差异无统计学意义(χ2=1.67,P〉0.05)。结论超声心动图对胎儿CHD的诊断敏感度较高,适用于早期筛查胎儿CHD,但仍需进一步前瞻性、多中心的研究对胎儿筛查人群和超声切面的选择等方面进行卫生经济学评估,探讨适合中国国情的胎儿CHD的最优化超声筛查操作规范。  相似文献   

18.
目的:了解孕妇睡眠质量与家庭功能的关系,为改善孕妇睡眠质量提供参考。方法:采用匹兹堡睡眠指数量表(PSQI)、家庭功能量表(家庭支持APGAR问卷)对239名孕妇进行测评。结果:本组孕妇PSQI总分及各因子分(USM除外)均高于正常女性群体(U=5.32~19.40,P0.001),且28.8%(64/239)患者PSQI总分大于7分,远高于正常女性群体(χ~2=33.89,P0.001);本组孕妇的家庭功能状况较以往的研究差(χ~2=6.69,P=0.035);孕妇的PSQI总分及各因子分(USM除外)均与其家庭功能分呈负向相关(P0.05或0.01)。结论:孕妇的睡眠质量和家庭功能状况均较差,改善其家庭功能状况有助于睡眠质量的提升。  相似文献   

19.
The expression of human leukocyte antigen (HLA)-G on cytotrophoblast cells contributes to maternal-fetal tolerance. Soluble forms of HLA-G (sHLA-G) can be detected in amniotic fluid (AF) and a decrease of sHLA-G is known to be correlated to fetal loss. In this work we investigated the role of sHLA-G in the transplacental passage of the protozoan parasite Toxoplasma gondii, responsible for congenital toxoplasmosis in about 30% of fetuses when primary infection (PI) occurs during pregnancy. We determined the sHLA-G concentration in 61 AF from women with PI and 24 controls. Our results showed higher sHLA-G levels in AF from PI than in controls (p<0.001). Moreover sHLA-G level from congenitally infected fetuses (n=12) was higher than in fetus in whom congenital infection was ruled out (n=49, p<0.05). These data suggest that sHLA-G could participate in immunomodulation necessary to avoid fetal loss due to Toxoplasma infection, but that over-expression could favor congenital transmission.  相似文献   

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