彩色多普勒超声对盆腔瘀血综合征的诊断价值及与临床因素的相关性研究

目的:探讨盆腔瘀血综合征患者彩色多普勒超声的影像学特征及与临床因素的相关性。方法:对112例盆腔瘀血综合征患者行彩色多普勒超声检查,按超声诊断分级Ⅰ级、Ⅱ级、Ⅲ级分为62例、27例、23例,观察彩色多普勒超声的影像学特征,分析静脉内径与病程的相关性,并分析超声诊断分级与临床症状积分、体质量指数(BMI)、妊娠次数、既往工作站立时间的相关性。结果:不同超声诊断分级患者的静脉内径、静脉丛范围和静脉流速差异具有统计学意义(P<0.05)。静脉内径与病程呈正相关(P<0.05),超声诊断分级与临床症状积分、妊娠次数、既往工作站立时间呈显著正相关(P<0.05),与BMI呈负相关(P<0.05)。结论:彩色多普勒超声对盆腔瘀血综合征具有特异性的诊断价值,超声诊断分级、静脉内径与临床因素存在一定的的关联性。     

呼吸中的疾病诊断标志物及检测技术

人类呼出气体中的各种化合物能提供各种疾病和健康状况的重要信息。近年来,由于红外、电化学、化学发光等新技术的重大突破和质谱仪的使用,使得在极低浓度下精确测量呼出的挥发性有机化合物(VOCs)和气溶胶颗粒成为可能,呼吸检测领域因而取得了重大进展:,呼吸检测因其可以作为一种实时、快速和无创的方法来评估和监测各种疾病与健康状况信息,在科学研究、临床运用中引起了广泛关注。本综述主要概述呼出气体成分分析方法及在疾病诊断中的研究与应用情况,旨在为将来疾病的实时、快速和无创诊断提供一种新的策略.     

Population-based carrier screening and prenatal diagnosis of fragile X syndrome in East Asian populations

Identification of carriers of fragile X syndrome (FXS) with the subsequent prenatal diagnosis and knowledge of FXS-associated genetic profiles are essential for intervention in specific populations. We report the results of carrier screening of 39,458 East Asian adult women and prenatal diagnosis from 87 FXS carriers. The prevalence of FXS carriers and full mutation fetuses was estimated to be 1/581 and 1/3124 in East Asian populations, respectively. We confirmed the validity of the current threshold of CGG trinucleotide repeats for FMR1 categorization; the integral risks of full mutation expansion were approximately 6.0%, 43.8%, and 100% for premutation alleles with 55–74, 75–89, and ≥ 90 CGG repeats, respectively. The protective effect of AGG (adenine-guanine-guanine nucleotides) interruption in East Asian populations was validated, which is important in protecting premutation alleles with 75–89 CGG repeats from full mutation expansion. Finally, family history was shown not an effective indicator for FXS carrier screening in East Asian populations, and population-based screening was more cost-effective. This study provides an insight into the largest carrier screening and prenatal diagnosis for FXS in East Asian populations to date. The FXS-associated genetic profiles of East Asian populations are delineated, and population-based carrier screening is shown to be promising for FXS intervention.     

基于纳米孔测序技术的柑橘黄龙病检测方法建立

柑橘黄龙病(Huanglongbing)是柑橘生产上最具毁灭性的病害,及时快速地进行早期检测和诊断是防控黄龙病的关键措施之一.本文利用掌上纳米孔测序仪MinION对携带黄龙病菌Candidatus Liberibacter asiaticus的DNA样品进行测序,并利用Blast、GraphMap、minimap2以及两种bwa的比对方法将测序结果比对到黄龙病菌基因组上,比对结果均匀的比对到黄龙病菌基因组上,并未发现严重的偏倚现象,验证了其测序结果的可靠性.本技术可弥补因柑橘木虱Diaphorina citri(Kuwayama)虫体过小或损坏难以进行光学识别的不足,并可同时检测虫体是否携带有黄龙病菌,对有黄龙病发生风险但尚未有黄龙病实际发生的柑橘种植区提供实时实地的监控与预警.     

Using vaginal discharge score (VDS) grading system to evaluate the effect of clinical endometritis on reproductive performance of dairy cows in China

Clinical endometritis (CE) is a major cause in affecting the reproductive performance of dairy cows. The objectives of this study were to ascertain the prevalence of CE and to evaluate the effect of CE on reproductive performance in dairy cows using vaginal discharge score (VDS) grading system. 803 dairy cows were examined by vaginoscope with 4-point VDS at 26 ± 3 days in milk (DIM) and classified into six groups: non-endometritis with VDS 0 (control; CON), endometritis with VDS 1 (MEM), non-treated endometritis with VDS 2 (NTME), treated endometritis with VDS 2 (TME), non-treated endometritis with VDS 3 (NTPE), and treated endometritis with VDS 3 (TPE). Cows in TME and TPE groups were treated with 200 mL of 50% dextrose solution by intrauterine infusion. The prevalence of CE was 33% at 26 ± 3 DIM. Binary logistic regression analysis revealed cows in MEM, NTME and NTPE groups had a less likelihood of first artificial insemination (AI) pregnancy than those in CON group (P < 0.05). Kaplan-Meier survival curves for days open were statistically different (P = 0.004). In Cox regression model, cows in NTME and NTPE groups had a reduced pregnancy rate than those in CON group (P < 0.05). The hazard of pregnancy in NTME group was lower than that in TME group (P = 0.044). Similarly, it was lower for the hazard of pregnancy in NTPE group than in TPE group (P = 0.048). Cows in MEM, NTME, and NTPE groups required more services per pregnancy than those in CON group (P < 0.05). In conclusion, CE examined by the VDS grading system impaired reproductive performance, and mild endometritis with VDS 1 should be treated in the early postpartum period to ameliorate fertility in dairy herds.     

Serological tests for COVID-19: Potential opportunities

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel betacoronavirus, caused a pandemic leading to a standstill of nearly all global activities. There are some controversies on the production of specific immunoglobulin M (IgM) and IgG antibodies after the infection with SARS-CoV-2. This paper seeks to elaborate on the potential application of IgM and IgG antibodies and the viral antigens for the diagnosis and the course of the disease as well as the recurrence of positive nucleic acid tests after discharge.     

An Approach Based on Mutually Informed Neural Networks to Optimize the Generalization Capabilities of Decision Support Systems Developed for Heart Failure Prediction

Available clinical methods for heart failure (HF) diagnosis are expensive and require a high-level of experts intervention. Recently, various machine learning models have been developed for the prediction of HF where most of them have an issue of over-fitting. Over-fitting occurs when machine learning based predictive models show better performance on the training data yet demonstrate a poor performance on the testing data and the other way around. Developing a machine learning model which is able to produce generalization capabilities (such that the model exhibits better performance on both the training and the testing data sets) could overall minimize the prediction errors. Hence, such prediction models could potentially be helpful to cardiologists for the effective diagnose of HF. This paper proposes a two-stage decision support system to overcome the over-fitting issue and to optimize the generalization factor. The first stage uses a mutual information based statistical model while the second stage uses a neural network. We applied our approach to the HF subset of publicly available Cleveland heart disease database. Our experimental results show that the proposed decision support system has optimized the generalization capabilities and has reduced the mean percent error (MPE) to 8.8% which is significantly less than the recently published studies. In addition, our model exhibits a 93.33% accuracy rate which is higher than twenty eight recently developed HF risk prediction models that achieved accuracy in the range of 57.85% to 92.31%. We can hope that our decision support system will be helpful to cardiologists if deployed in clinical setup.     

Short communication: Single tube allele specific (STAS) PCR for direct determination of the mutation in the porcine ryanodine receptor gene associated with malignant hyperthermia

The ability to add or delete specific genes in swine will likely provide considerable benefits not just to agriculture but also to medicine, where pigs have potential as models for human disease and as organ donors. Here we have transferred nuclei from a genetically modified fibroblast cell line to porcine oocytes, matured in vitro under defined culture conditions, to create piglets expressing enhanced green fluorescent protein. The nuclear transfer-derived piglets were of normal size, although some mild symptoms of “large offspring syndrome” were evident. These experiments represent a next step towards creating swine with more useful genetic modifications.     

Proteomics in translational cancer research: biomarker discovery for clinical applications

This special focus issue of Expert Review of Proteomics invites key opinion leaders to report their recent findings and views on the important topic of translating potential proteomic biomarkers to clinically useful, regulator-approved biomarkers: a challenging journey. The issue also highlights the difficulties associated with and the way forward in the discovery of proteomic cancer biomarkers for clinical applications, as well as presenting recent original research in the field.