宫腔镜在子宫腺肌病诊断中的价值

子宫腺肌病是严重危害女性健康的多发疾病,早期诊断困难。宫腔镜下可以识别子宫腺肌病患者宫腔内特异或非特异的、有时表现为细微而特征性的病变形态,包括子宫内膜内陷、血管增生、子宫内膜炎性改变、宫腔受压和囊性子宫腺肌病等,对子宫腺肌病诊断具有重要辅助作用。宫腔镜联合超声检查可以提高宫腔镜对子宫腺肌病的诊断率,同时可以进一步判定病灶大小、位置和深度。超声引导下宫腔镜定位活检取得子宫内膜肌层交界区组织病理是目前最有价值的实现子宫腺肌病的微创诊断方法,为有生育要求的患者或有保留子宫愿望的患者选择个体化的治疗方式提供了可能。     

妊娠晚期B族链球菌筛查阳性孕妇的阴道微生态研究

目的了解妊娠晚期B族链球菌(group B streptococcus,GBS)筛查阳性孕妇的阴道微生态情况。方法选取2019年1月至2019年7月在北京市海淀区妇幼保健院诊治的妊娠晚期GBS筛查阳性100例孕妇作为研究对象。将这100例孕妇作为试验组,选取同时期妊娠晚期GBS筛查阴性的100例孕妇作为对照组。两组孕妇均行阴道微生态检查,比较两组孕妇的微生态结果及母儿结局。试验组根据是否合并微生态失调分为甲、乙两组,甲组合并微生态失调共62人,乙组微生态正常共38人。比较两组的新生儿窒息率,宫腔感染+产褥感染的发生率以及新生儿感染率。结果试验组微生态失调发生率高于对照组,差异具有统计学意义(P<0.05)。试验组宫腔感染+产褥感染发生率及新生儿感染率高于对照组,差异具有统计学意义(P<0.05)。甲组的宫腔感染+产褥感染发生率明显高于乙组,差异具有统计学意义(P<0.05)。结论GBS感染与阴道微生态相关,对GBS阳性且合并微生态失调者,改善其阴道微生态环境,可能改善围产结局。     

彩色多普勒超声对乳腺良恶性肿物的鉴别诊断

目的利用彩色多普勒超声血流情况鉴别诊断乳腺肿物的良恶性,提高超声检查的准确率。方法对我院自2010年7月至2013年1月的所有超声检查中有乳腺肿物并且肿物的彩色多普勒图像显示有血流的病例共453例进行汇总分析,根据最后病理证实的结果,总结他们的血流供应情况,得到对乳腺良恶性肿物的血流图像特点。结果 453例病例中经病理证实为乳腺恶性肿物的60例,乳腺纤维瘤的153例,乳腺增生症的223例其中伴有乳腺纤维腺瘤样结构形成的有122例,还有17例为乳腺叶状肿瘤。结论乳腺肿物在二维超声上的表现有时是很难区分良恶性的,所以彩色多普勒超声提供的血流情况更能反映肿物的供血情况,为我们鉴别诊断乳腺肿物的良恶性提供可靠的依据。     

Perfluorononanoic acid-induced apoptosis in rat spleen involves oxidative stress and the activation of caspase-independent death pathway

Perfluoroalkyl acid (PFAA)-induced apoptosis has been reported in many cell types. However, minimal information on its mode of action is available. This study explored the possible involvement of apoptotic signaling pathways in a nine-carbon-chain length PFAA–perfluorononanoic acid (PFNA)-induced splenocyte apoptosis. After a 14-day exposure to PFNA, rat spleens showed dose-dependent levels of apoptosis. The production of pro-inflammatory and anti-inflammatory cytokines was significantly increased and decreased, respectively. However, protein levels of tumor necrosis factor receptor 1 (TNFR1), fas-associated protein with death domain (FADD), caspase 8 and caspase 3, which are involved in inflammation-related and caspase-dependent apoptosis, were discordant. Peroxisome proliferator-activated receptors alpha (PPARα) and PPARγ genes expression was up-regulated in rats treated with 3 or 5 mg/kg/day of PFNA, and the level of hydrogen peroxide (H₂O₂) increased concurrently in rats treated with the highest dose. Moreover, superoxide dismutase (SOD) activity and Bcl-2 protein levels were dramatically decreased in spleens after treatment with 3 and 5 mg/kg/day of PFNA. However, protein levels of Bax were unchanged. Apoptosis-inducing factor (AIF), an initiator of caspase-independent apoptosis, was significantly increased in all PFNA-dosed rats. Thus, oxidative stress and the activation of a caspase-independent apoptotic signaling pathway contributed to PFNA-induced apoptosis in rat splenocytes.     

肺脏超声对新生儿肺炎诊断价值的Meta分析

目的　采用 Meta 分析方法来评价肺脏超声对新生儿肺炎的诊断价值。方法　检索PubMed、Cochrane library、Embase、CNKI 和万方数据库，按照诊断性试验的纳入和排除标准，获取符合本研究要求的文献，检索时间为建库至 2018年9月。共检索到907篇文献，选取其中8篇进一步分析，并对文献质量进行QUADAS2标准评价，采用Q检验和I 2统计量进行异质性检验，采用 Meta-Disc 1.4 软件进行统计学分析，评价肺脏超声对新生儿肺炎的诊断价值。 结果　共纳入8篇文献、1078例。采用随机效应模型对纳入的研究进行统计分析，合并敏感度为0.96（95%CI：0.95～0.98），合并特异度为0.98（95%CI：0.95～0.99），合并阳性似然比为19.52（95%CI：5.00～76.15），合并阴性似然比为0.04（95%CI：0.01～0.16），合并诊断优势比为565.45（81.80～3908.58），拟合ROC 曲线下面积0.9950。结论　肺脏超声诊断新生儿肺炎的敏感度和特异度较X线高。鉴于其相对容易操作、实时可用、低成本和无电离辐射，目前的证据支持超声作为新生儿肺炎诊断的替代手段。     

糖脂代谢异常对恶性肿瘤影响的研究进展

肿瘤是全球主要的死亡原因之一,其发病率正在逐年上升。糖脂代谢异常可导致多种恶性肿瘤的发病率及死亡率 增加,如乳腺癌、肝癌、胰腺癌、结直肠癌等。糖脂代谢异常导致肿瘤进展的多种机制,包括影响细胞代谢、引起机体炎症与免 疫失调、抑制肿瘤细胞凋亡以及促进肿瘤细胞增殖和转移等,然而尚不清楚导致恶性肿瘤发生、发展的主要原因。此外,糖脂 代谢异常与恶性肿瘤的相互作用限制药物的选择、增加恶性肿瘤化学耐药性、影响手术疗效和患者预后,使恶性肿瘤治疗方案 的制定更具挑战性。二甲双胍与他汀类药物可降低多种肿瘤的风险,但相关的临床前瞻性试验尚无定论。因此,本文对糖脂 代谢紊乱与恶性肿瘤相关的研究进展进行阐述,旨在探讨糖脂代谢异常与恶性肿瘤发生的相关性,以及促进恶性肿瘤生长与 进展的潜在病理生理机制,最后将讨论降糖、降脂策略在治疗恶性肿瘤中的潜在作用。     

A schizophrenia-associated HLA locus affects thalamus volume and asymmetry

Genes of the Major Histocompatibility Complex (MHC) have recently been shown to have neuronal functions in the thalamus and hippocampus. Common genetic variants in the Human Leukocyte Antigens (HLA) region, human homologue of the MHC locus, are associated with small effects on susceptibility to schizophrenia, while volumetric changes of the thalamus and hippocampus have also been linked to schizophrenia. We therefore investigated whether common variants of the HLA would affect volumetric variation of the thalamus and hippocampus. We analysed thalamus and hippocampus volumes, as measured using structural magnetic resonance imaging, in 1.265 healthy participants. These participants had also been genotyped using genome-wide single nucleotide polymorphism (SNP) arrays. We imputed genotypes for single nucleotide polymorphisms at high density across the HLA locus, as well as HLA allotypes and HLA amino acids, by use of a reference population dataset that was specifically targeted to the HLA region. We detected a significant association of the SNP rs17194174 with thalamus volume (nominal P = 0.0000017, corrected P = 0.0039), as well as additional SNPs within the same region of linkage disequilibrium. This effect was largely lateralized to the left thalamus and is localized within a genomic region previously associated with schizophrenia. The associated SNPs are also clustered within a potential regulatory element, and a region of linkage disequilibrium that spans genes expressed in the thalamus, including HLA-A. Our data indicate that genetic variation within the HLA region influences the volume and asymmetry of the human thalamus. The molecular mechanisms underlying this association may relate to HLA influences on susceptibility to schizophrenia.     

Characterization of a novel splicing mutation in <Emphasis Type="Italic">UNC13D</Emphasis> gene through amplicon sequencing: a case report on HLH

Background

Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disease caused by uncontrolled proliferation of activated lymphocytes and macrophages. Six genes including SH2D1A, PRF1, UNC13D, STX11, STXBP2 and XIAP were reported as causative genes in most cases.

Case presentation

Here we report a novel splicing mutation in UNC13D gene, which was identified in an 18-year-old female. Patient was diagnosed as HLH base on HLH-2004 guidelines, no history of inherited diseases was revealed in this family, parents were healthy and non-consanguineous. Splenomegaly and hemophagocytosis in bone marrow were observed in clinical examination. Amplicon sequencing for the whole coding region of 6 HLH-related genes was performed on Ion S5XL genetic analyzer. In all, four heterozygous mutations were detected, including 2 nonpathogenic SNPs (PRF1:c.900C > T, STX11:c.*70G > A) and 2 splicing mutations in UNC13D gene (UNC13D:c.1299 + 1G > A and UNC13D:c.2709 + 1G > A), both of which were predicted to be potentially pathogenic by human splicing finder (HSF3) tool. The result was confirmed by two-generation pedigree analysis base on sanger sequencing.

Conclusions

Two compound heterozygous splicing mutations in UNC13D gene were identified and considered to be potential pathogenesis in a female patient of HLH. The mutation UNC13D:c.1299 + 1G > A was reported in HLH for the first time. The inheritance mode and source of the mutation in the proband was examined by family analysis. Our data suggest that further studies of the spectrum of HLH-related mutations in China are warranted.

     

中药治疗妊娠期肝内胆汁淤积症文献的分析

目的 评价中药治疗妊娠期肝内胆汁淤积症(ICP)的临床疗效和安全性.方法 自行制定检索策略,计算机检索Medline(Ovid,1902年1月至2011年12月),EmBase(1984年1月至2010年12月),中国生物医学文献数据库(CBM,1978年至2010年),中国期刊全文数据库[清华同方(CNKI)](1979年1月至2011年12月),中文科技期刊全文数据库[维普(ⅥP)](1989年1月至2010年12月),万方数据库(1977年1月2010年12月),Cochrane Central Register of Controlled Trials(2011年第1期),纳入以ICP患者为研究对象的随机对照试验(RCTs),中药或中西医结合治疗为治疗组,安慰剂或西药治疗为对照组,对纳入研究的方法学质量(包括随机方法、盲法、分配隐藏及失访等)进行评价.由2位评价员独立提取资料,研究质量的方法学评价根据Cochrane Handbook of Systematic Reviews for Intervention 4.2.5规定的标准和吴泰相[8]等关于RCT的质量评价标准进行.结果 按照检索策略共检索出有关中药治疗ICP的RCTs共计3篇,纳入患者共计249例,中药治疗ICP疗效不确定.单个研究分析显示,中药对皮肤瘙痒缓解率、黄疸消退率、小于孕龄儿发生率、早产率、胎儿出生体重、脐动脉血流收缩期最大血流速率与舒张末期血流速率比值(S/D)及阻力指数(RI)等的疗效较对照组(安慰剂或西药治疗)好,但对ICP治疗的总有效率、产后出血率、新生儿死亡率等疗效,则不及对照组.结论 目前尚无证据证明中药无效或有害,且中药成本相对较低.由于所纳入样本量较少,上述结论有待开展更多高质量、大样本、多中心的RCTs加以证实.