代谢组学技术及其在产科的应用

在后基因时代,快速发展的组学技术（基因组学、转录组学、蛋白质组学、代谢组学）逐渐成为关注的焦点。代谢组学在后基因研究领域的研究对象是细胞、组织、器官的小分子化合物。代谢组学采用一些现代的分析技术和数据分析技术,在产科相关疾病的预测、发病机制的阐释、疾病的分子定向治疗上得到应用。介绍代谢组学研究中几种常用的分析技术（磁共振技术、色谱技术和质谱技术）和代谢组学在产科的研究进展。     

代谢组学及其在临床中的应用

代谢组学是继基因组学、蛋白质组学、转录组学后出现的新兴"组学".代谢组学以基因表达的最终产物(小分子代谢物)为研究对象,主要运用核磁共振、质谱、色谱等技术分离纯化得到数据,并用模式识别技术分析数据,获取有用信息.研究生物体系的代谢网络,代谢组学各单一技术平台均存在一定局限性.代谢组学是系统生物学的组成部分,在临床应用中有广阔的前景,目前代谢组学已广泛应用于疾病诊断、发病机制研究、治疗监测等领域.     

卵巢癌相关代谢组学研究进展

代谢组学是一种新的组学研究手段,其使用分析化学的检测方法和生物信息学的统计策略对生物系统(细胞、组织、生命体)中所有小分子代谢产物进行分析,任何生理或病理改变都可由代谢表型所反映,卵巢癌发生发展中表现出的代谢变化规律必然可由代谢组学研究测定,以获得系统性、整体性、动态性的信息,为卵巢癌的早期诊断、合理治疗提供理论依据.就代谢组学的概念、研究方法及其在卵巢癌中的应用做一综述.     

卵泡液代谢组学研究进展

探索并找到能够成功预测卵子质量的生物标志物是提高人类辅助生殖技术(ART)成功率的关键因素之一。继形态学、基因组学、蛋白质组学之后,新近发展的代谢组学研究方法可能会成为寻找卵泡液中预测卵子质量标志物的较有前景的方法之一。代谢组学分析以其客观、准确、代谢物种类少和测量相对简单的优点成为最近的研究热点。本文就卵泡液代谢组学的研究进展做一综述。     

代谢组学及其在临床中的应用

代谢组学是继基因组学、蛋白质组学、转录组学后出现的新兴＂组学＂。代谢组学以基因表达的最终产物（小分子代谢物）为研究对象，主要运用核磁共振、质谱、色谱等技术分离纯化得到数据，并用模式识别技术分析数据，获取有用信息。研究生物体系的代谢网络，代谢组学各单一技术平台均存在一定局限性。代谢组学是系统生物学的组成部分，在临床应用中有广阔的前景，目前代谢组学已广泛应用于疾病诊断、发病机制研究、治疗监测等领域。     

代谢组学在围生医学中的应用

代谢组学采用核磁共振和质谱分析技术及数据分析手段对样本中的小分子代谢物进行分析,获得与疾病发生发展密切相关的特征性代谢物谱,对疾病的预防、诊断、治疗和预后等发挥了重要的作用。研究发现母体血浆、尿液和羊水中特征性的代谢物谱可预测胎儿畸形,母体血浆代谢组学可预测子痫前期的发生和类型,胎盘和脐血代谢组学可用于胎儿宫内缺氧和发育状况的预测,阴道代谢组学可预测早产的发生。代谢组学技术对研究孕妇和新生儿疾病的发生、发展和预后具有重要的指导意义。     

卵泡液代谢组学最新研究进展

代谢组学是继基因组学、转录组学、蛋白质组学之后系统生物学的主要研究平台,并逐渐成为生命科学的研究热点。在辅助生殖技术(assisted reproductive technology,ART)领域,卵泡液代谢组学已取得较大进展。目前,国内外大多数回顾性研究表明卵泡液相关代谢物(糖类、脂肪酸、氨基酸、激素等)可预测卵母细胞发育潜能,但有待大样本、多中心随机对照试验进一步证实。卵泡液代谢组学的深入研究有望成为评估卵母细胞质量并改善ART治疗结局的重要方法和手段。     

重度子痫前期患者的血浆代谢组学研究

目的:探讨重度子痫前期患者血浆的代谢组变化及代谢组学技术早期诊断重度子痫前期的应用价值.方法:采用基于高效液相色谱-3200 Q trap质谱的代谢组学方法,检测51例重度子痫前期患者和45例正常妊娠妇女血浆代谢组的变化,运用模式识别方法分析数据.结果:51例重度子痫前期患者和45例正常妊娠妇女经代谢组学方法得到很好的区分,并找到相对应的16个潜在的生物标记物,其中浓度呈下降趋势的代谢小分子有峰89、95、98、118、135、157、187、191、215、240,浓度呈上升趋势的有峰139、155、284、451、837、922.结论:建立的代谢组学方法可以区分重度子痫前期和正常妊娠,综合代谢标记物变化趋势构成重度子痫前期的代谢特征,其对早期诊断重度子痫前期有很好的前景.     

代谢组学方法在妊娠期糖尿病研究中的应用

妊娠期糖尿病（GDM）易造成子痫前期、羊水过多、巨大儿等多种并发症。目前在妊娠中晚期检测血糖筛查GDM，确诊患者接受治疗的时间短，母婴健康存在严重隐患。代谢组学（metabolomics）是一种定量考察生命系统受内外界刺激或基因修饰后的代谢应答规律的学科。将代谢组学的方法应用于GDM研究，有望实现GDM的早期诊断，理解GDM的致病机制，对GDM的防治和母婴预后都有重要的意义。综述代谢组学方法在GDM及相关疾病研究中的应用。     

多囊卵巢综合征代谢组学研究进展

收集最近发表的应用代谢组学技术研究多囊卵巢综合征的国内外文献,总结与多囊卵巢综合征(PCOS)发生相关的代谢物及代谢通路。从代谢组学角度探讨PCOS的发病机制及诊断、治疗进展,为PCOS的诊断和治疗提供代谢组学的依据。与PCOS发生相关的代谢物涉及碳水化合物、脂肪、蛋白质和激素;胰岛素抵抗、肥胖等与PCOS的代谢异常密切相关;药物可通过改善代谢紊乱治疗PCOS。代谢组学技术的应用有助于进一步明确PCOS的代谢紊乱,筛选的病变标志物有助于疾病的预测诊断和远期并发症的预防。     

First-trimester metabolomic prediction of stillbirth

Background: Stillbirth remains a major problem in both developing and developed countries. Omics evaluation of stillbirth has been highlighted as a top research priority.

Objective: To identify new putative first-trimester biomarkers in maternal serum for stillbirth prediction using metabolomics-based approach.

Methods: Targeted, nuclear magnetic resonance (NMR) and mass spectrometry (MS), and untargeted liquid chromatography-MS (LC-MS) metabolomic analyses were performed on first-trimester maternal serum obtained from 60 cases that subsequently had a stillbirth and 120 matched controls. Metabolites by themselves or in combination with clinical factors were used to develop logistic regression models for stillbirth prediction. Prediction of stillbirths overall, early (<28 weeks and <32 weeks), those related to growth restriction/placental disorder, and unexplained stillbirths were evaluated.

Results: Targeted metabolites including glycine, acetic acid, L-carnitine, creatine, lysoPCaC18:1, PCaeC34:3, and PCaeC44:4 predicted stillbirth overall with an area under the curve [AUC, 95% confidence interval (CI)]?=?0.707 (0.628–0.785). When combined with clinical predictors the AUC value increased to 0.740 (0.667–0.812). First-trimester targeted metabolites also significantly predicted early, unexplained, and placental-related stillbirths. Untargeted LC-MS features combined with other clinical predictors achieved an AUC (95%CI)?=?0.860 (0.793–0.927) for the prediction of stillbirths overall. We found novel preliminary evidence that, verruculotoxin, a toxin produced by common household molds, might be linked to stillbirth.

Conclusions: We have identified novel biomarkers for stillbirth using metabolomics and demonstrated the feasibility of first-trimester prediction.     

Secretome profile of mouse oocytes after activation using mass spectrum

Objective

Mammalian oocytes undergo a cortical reaction after fertilization, releasing cortical granules and other proteins into the perivitelline space and inhibiting polyspermy. Few studies have evaluated the biological functions and properties of these proteins.

Study design

We investigated mouse oocytes in which the zona pellucida (ZP) was present (ZP-intact group) or absent (ZP-free group).

Results

After being activated by Srcl2, secreted proteins are collected from mouse oocytes. Mass spectrometry analysis was performed that identified proteins such as Ldhb, PADi6, Uchl1, Pebp1, Alb, Hsp90aa1, Prss1, trypsinogen 7, trypsin 4, trypsin 10, Sod1, Zp1, Zp2, Zp3, Akap8, Npm2, Pkm2 and Ppia in the ZP-free group. Proteins such as Ldhb, Uchl1, Prss1, trypsin 10, trypsinogen 7, and Ast1 were identified in the ZP-intact groups. The expression of some proteins, including Ldhb, Alb and Sod1, were initially detected following oocyte activation. The finding of four trypsin subtypes, such as Prss1, further support previous observations. Studies investigating the physiological functions and properties of these proteins are ongoing.

Conclusions

Research on these cortical proteins provides a theoretical basis for understanding polyspermy inhibition at the level of ZP and gives technological support for fertilization detection, assessment of oocyte quality and embryonic culture.     

妊娠滋养细胞肿瘤的磁共振表现

目的:探讨妊娠滋养细胞肿瘤(GTT)的磁共振(MR)表现。方法:回顾分析11例经临床、诊断性刮宫或手术病理证实GTT的MR图像,分析平扫(包括T1WI、T2WI、T2*WI)及增强MR表现。结果:8例病变位于宫腔内,均累及肌层,1例宫腔内呈"葡萄"状改变,6例肌层呈"蜂窝"状改变,1例同时呈宫腔内"葡萄"状及肌层"蜂窝状"改变;3例累及宫旁组织。病变均表现为等或长T1、混杂T2信号,6例见长T1、长T2信号坏死改变,T2*WI均显示数量不等的低信号出血灶。联合带均中断或边界不清。11例均见宫旁或子宫肌层内血管不同程度的迂曲扩张。动态增强扫描病变早期即有明显强化。GTT可合并双侧卵巢黄素化囊肿,呈长T1、长T2信号,内有多个分隔,T2*WI亦显示低信号出血灶,增强扫描无明显强化。结论:GTT病变多位于子宫肌层,伴有联合带中断、边界不清及宫旁或肌层血管迂曲扩张,病变呈"葡萄"状或"蜂窝"状改变为特征性表现,动态增强扫描早期即有明显强化,可合并双侧卵巢黄素化囊肿。     

The use of magnetic resonance imaging in the assessment of malignant vaginal fistulas

The objective of this study was to determine whether magnetic resonance imaging (MRI) could reliably demonstrate fistulas and any associated mass and to see whether these findings were beneficial in the management of the fistula. Twelve consecutive patients presenting with suspected vaginal fistulas were examined prospectively with MRI, using a combination of sequences, for the presence, extent and configuration of fistulas and any associated mass. Comparison was made with CT when available. All patients underwent examination under anesthesia (EUA) and the findings compared. Of the 12 women presenting, seven had vesico-vaginal fistulas (VVF) and seven had recto-vaginal fistulas (RVF). Four women had both types of fistulas. The underlying pathology was cervical cancer (seven cases), colonic cancer (three cases), breast cancer (one case) and ovarian cancer (one case). Vaginal fistulas were unequivocally seen on MRI in eight of 10 cases with fistulas. In the two cases with a difference between the MRI and EUA findings, the MRI was interpreted as showing more than was found at EUA. In the seven women with VVF, MRI detected five of the cases. In the seven women with RVF, MRI detected all seven cases. Magnetic resonance imaging was correct in determining the presence of recurrent disease in the pelvis when an associated mass was seen (seven cases). Computer-assisted tomography was compared in 10 cases and in six cases, the results were comparable and in four cases, more information was obtained from the MRI. Magnetic resonance imaging appears to be accurate in detecting and defining complex gynecologic fistulas and should be considered the investigation of choice to aid the planning of restorative, salvage or palliative surgery.     

Giant Fibroepithelial Stromal Polyp of the Vulva: Diffusion-Weighted and Conventional Magnetic Resonance Imaging Features and Pathologic Correlation

BackgroundFibroepithelial stromal polyp (FESP) is a rare benign mass, usually presenting at the vagina. Herein we report, to our knowledge, the first case of contrast-enhanced magnetic resonance imaging (MRI) with diffusion-weighted images of a giant vulvar FESP, and compare the MRI features with the histopathologic results.CaseA 14-year-old girl presented with a huge mass as large as 20 cm that originated from the labium majora. Preoperative MRI showed a polypoid mass consisting of a central stalk and surrounding stroma. Different signal intensities on MRI were correlated with various histopathologic features. The mass was cured by complete excision without remnant lesion.Summary and ConclusionContrast-enhanced MRI with diffusion-weighted images can help us differentiate FESP from other vulvovaginal stromal tumors with a complete evaluation of the external and internal structures and the depth of invasion.