应用新的分子杂交系统对血友病A患儿及家系进行连锁分析

建立稳定有效的杂交系统，是对所有分子遗传学实验室的最基本的要求。经典的杂交系统，即Denhardts－Dextransulfate系统，配方复杂，成本昂贵，而且结果并不稳定。我们根据国外一些实验室的经验，同时对国内一些实验室的方法进行改进，建立了磷酸盐杂交系统，经近100次实验证明，效果理想，而且成本低廉，实用性广，快速方便等都优于经典的杂交系统。     

降钙素原检测系统的溯源性及一致性研究

目的 建立自建检测系统i-reader S的溯源链，实现产品校准品赋值上计量的可追溯性；对4种降钙素原(PCT)检测系统进行不精密度、偏倚和一致性评价，探讨实验室不同检测系统测定降钙素原结果是否具有可比性，为临床上降钙素原检测系统的使用提供参考和依据。方法 建立i-Reader S检测系统的溯源链；参考CLSI EP15-A3验证4种检测系统的不精密度；以Cobas e411为参考系统，参考CLSI EP9-A3评价3种系统的偏倚，用Kappa检验系统检测结果的一致性，以截断值0.5ng/mL的计数进行评价。结果 自建检测系统i-Reader S溯源验证良好，4种检测系统的重复性和之间不精密度符合厂家声明，各系统间比对相关系数满足可接受标准，i-Reader S与Cobas e411间偏倚满足可接受标准，使用截断值0.5ng/mL具有一致性，Access 2&MQ60与Cobas e411间偏倚不满足可接受标准，使用截断值0.5ng/mL不具有一致性。结论 按照ISO 17511建立溯源链，与参比系统有良好的一致性，可以实现产品校准品赋值上计量的可追溯性；由于系统间的溯源性差异...     

评价心率变异性的一种新方法

本文提出了一种基于动态系统模型以研究心率变异性的新方法。该方法是将心脏视为一个近似的线性动态系统，并将心率视为系统的输出，而系统动态模型的参数则表征了神经的调节能力。文中，我们先由各心搏的ＲＲ间期数据建立离散的动态系统模型，再由所求得的模型计算出表征动态系统的特征的各参数，并将参数的变化描绘成各种趋势图，用以研究各种趋势与疾病的关系     

高精度一体化电阻抗断层成像数据采集系统

目的设计一种高精度一体化电阻抗断层成像数据采集系统。方法根据乳腺EIT检测方法的特点，设计了一套16电极高精度一体化实验系统，包括电极、开关阵列、模拟前端、模数转换及数据传送等。系统采用了24位高精度A/D转换和数据采集系统芯片ADuC834，使用了环形电路板，将所有电路集中在该电路板上，以16个压力测试针作为与外部电极的接合点，实现了无长引线的一体化系统。结果使用该系统进行了初步成像实验，取得了较好的成像结果。结论从成像结果看．采用高精度一体化数据采集系统进行EIT成像是可行的，新系统有更高的测量精度。     

233例尸检畸形儿分析

我院自１９６０年８月至１９９５年７月，共行死婴尸检７５１例，检出畸形儿２３３例（占３１．０３％），７５１例中围产儿为７１６例，围产儿畸形２１９例（占３０．５９％）。依照系统畸次及疾病畸次进行统计，结果显示多系统畸形１０３例，单系统畸形１２９例，联体畸形１例。消化系统、心血管系统和神经系统占前３位，三者占系统畸次的５４．３％，最常见的畸形依次为脑脊髓膜膨出和／或脊柱裂、脑积水、房缺、室缺、肺的发育异常、小肠憩室、无脑儿、唇腭裂等。１０３例多系统畸形中，２系统畸形为５７例，３、４、５、６个系统畸形依次为５７例、２９例、１１例、５例和１例。心血管系统畸形常与消化、呼吸和体腔系膜系统畸形合并出现，神经系统畸形常与颜面、颈部、四肢畸形并存。随着年代变迁，神经系统畸形所占比例呈上升趋势，（ｘ２＝１６．２６，Ｐ＜０．００１），心血管系统畸形呈下降趋势，（ｘ２＝９．７０４，Ｐ＜０．０５），差异均具有统计学意义。     

远程专家会诊系统的设计与应用

本文介绍一种利用低成本视频会议系统和低消耗通讯费用构成的远程专家会诊系统。该系统具有病人预约信息登录、传送，图文资料获取、校正、传送，两地动态图像实时显示、白板等功能，基本满足远程会诊的要求。经实际应用，取得较好效果，表明该系统是一种经济、实用、适合目前中国国情的远程专家会诊系统     

儿童肝超薄铣削断层解剖及可视化重建

目的：了解儿童肝胆系统形态结构、走行规律，辨清儿童及成人肝的差异，为编写儿童解剖图谱提供素材，丰富对儿童肝胆系统的认识。方法 ：选取男童标本1具，利用数控冷冻铣削技术，采用从足到头逐层超薄铣切，进行数字儿童肝胆系统图像手动分割，分割提取后将数据导入Digihuman Reconstruction System，并建立三维模型，将初步建立的模型进行微调和修改。采用描述法对重建后的儿童三维肝胆系统模型进行显示。结果 ：获得肝连续薄层解剖断面图像1 234张，获得了儿童三维肝胆系统及儿童断层解剖图谱。结论 ：通过对肝断层解剖结构的分析与处理，可以立体地展示肝胆系统的解剖关系；三维图像可形象、动态地显示肝胆系统的解剖特点。     

计及舒适性的膝关节外骨骼机器人张弛穿戴系统性能优化及方法研究

为了提高穿戴舒适性与承载有效性，本文在提出一种膝关节外骨骼机器人张弛穿戴系统原型及其工作机制解析的基础上，对该系统开展静力学优化综合及其方法研究。首先，本文基于系统虚拟样机模型的构建，构造一种计及应力、变形及受力结点占比等要素的综合穿戴舒适度评价指标；其次，基于系统虚拟样机静力学仿真，结合评价指标，开展多目标遗传优化与铠甲层拓扑构型的局部优化综合；最后，通过模型重建仿真数据证实了该系统具有良好的穿戴舒适性。本研究为后续穿戴系统的承载性能及样机建造提供了理论基础。     

多种教学方法在人体解剖学运动系统中的应用

人体解剖学是一门形态学课程，为学好其他基础医学课程和临床课程奠定基础。而运动系统又是医学生最早接触的系统。由于该系统的内容枯燥乏味，名词多，并且需要有较强的空间想象力，学生往往会产生厌学情绪，进而影响到后续系统的学习。为了提高教学效果，我们对教学方法进行了分析和总结，供大家参考学习。     

一种无创脉搏波检测分析系统的研制

研制了一套无创脉搏信号检测分析系统，系统采用生理压力传感器同时采集两路脉搏波信号，实现了脉搏波信号的实时采集、存储、动态显示、波形波速度分析和诊断报告的打印，能够较全面的评价心血管系统的功能。该系统采用单片机与计算机结合的设计方式，同时具有单片机小型化、便携的特点和计算机强大的数据存储、分析、处理的能力。初步临床实验表明，该系统操作方便，稳定性好，检测的可重复性较好。     

微小RNAs与心房颤动

心房颤动是临床最常见的慢性持续性心律失常,具有进行性、自我延续性的特点.MicroRNAs是新发现的基因表达调控因子,由长约22个核苷酸的单链RNA分子构成.MicroRNAs在控制房颤方面的潜在作用最近才开始研究,这些研究结果有助于了解房颤的分子机制.此综述简要叙述microRNAs的特点和功能、房颤的重构机制以及它...     

微小RNA与心房颤动心房纤维化

心房纤维化是心房颤动(房颤)发生与维持的重要因素,微小RNA(microRNA,miRNA)通过调控纤维化相关靶基因,在房颤心房纤维化中起着重要作用。因此,深入研究miRNA在心房纤维化中的作用机制将为房颤的诊治提供新的思路。     

Cerebrovascular accidents differ between patients with atrial flutter and patients with atrial fibrillation

IntroductionFew studies have explored the potential impact of atrial flutter (AFl) on ischaemic stroke (IS) outcome. The aim of the present study was to compare the clinical course of IS in patients with AFl and patients with atrial fibrillation (AF).Material and methodsA retrospective analysis of patients consecutively admitted to a tertiary care centre between 2013 and 2015 due to IS or transient ischaemic attack with permanent AFl or permanent or persistent AF was performed.ResultsThe study groups consisted of 528 patients, including 490 (92.8%) patients with AF and 38 (7.2%) patients with AFl. The mean age and prestroke CHA2DS2-VASc scores were similar between the patients with AFl and those with AF. Most IS cases in the AF group were classified as cardioembolic strokes (74.9% vs. 39.5% in AFl, p < 0.01), and lacunar strokes were the most common in the AFl group (47.4% vs. 14.3% in AF, p < 0.01). The multivariable analysis revealed that the presence of AF (OR = 8.6, 95% CI: 1.2–57, p = 0.02), lacunar stroke (OR = 0.1, 95% CI: 0.03–0.31, p < 0.001), baseline Rankin scale score (OR = 16.6, 95% CI: 9.8–28), lack of prestroke therapeutic anticoagulation (OR = 6.1, 95% CI: 1.1–33), diabetes (OR = 2.9, 95% CI: 1.3–6.5, p < 0.01), chronic heart failure (OR = 14.2, 95% CI: 5.8–34, p < 0.001), and current smoking (OR = 0.92, 95% CI: 0.39–0.99, p < 0.01) were significantly associated with the stroke outcome.ConclusionsDisabling or fatal IS was observed less often in patients with AFl than in patients with AF. This finding can possibly be explained by the more frequent occurrence of lacunar strokes in the AFl group compared with that in the AF group.     

Sample entropy of the main atrial wave predicts spontaneous termination of paroxysmal atrial fibrillation

Atrial fibrillation (AF) is the most common arrhythmia in clinical practice. In the first stages of the disease, AF may terminate spontaneously and it is referred as paroxysmal atrial fibrillation (PAF). In this respect, the prediction of PAF termination or maintenance could avoid unnecessary therapy and contribute to take the appropriate decisions on its management. The aim of this work is to predict non-invasively the spontaneous termination of PAF episodes by analyzing the variation of atrial activity (AA) organization. The organization increases as a consequence of the decrease in the number of reentries wandering the atrial tissue before termination. The analysis has been carried out by applying sample entropy, which is a non-linear organization estimator, to surface electrocardiogram (ECG) recordings. Synthetic signals were used in order to evaluate the notable impact of noise in AA organization estimation. Therefore, to reduce noise, ventricular residues and enhance the fundamental features of AA, the main atrial wave (MAW) was extracted making use of selective filtering. Through MAW organization estimation applied to real ECGs, 95% (19 out of 20) of the learning PAF recordings and 90% (27 out of 30) of the test episodes were correctly predicted. As a consequence, the MAW organization analysis from surface ECGs can be considered as a promising tool to predict spontaneous PAF termination.     

Assessment of atrial electromechanical interval using echocardiography after catheter ablation in patients with persistent atrial fibrillation

We sought to investigate variation of atrial electromechanical interval after catheter ablation procedure in patients with persistent atrial fibrillation using pulse Doppler (PW) and pulse tissue Doppler imaging (PW-TDI). A total of 25 consecutive in-patients with persistent atrial fibrillation, who restored sinus rhythm after ablation procedure, were recruited in our cardiac center. Echocardiography was performed on each patient at 2 hours, 1 day, 5 days, 1 month and 3 months after the ablation therapy, and atrial electromechanical delay was measured simultaneously by PW and PW-TDI. There was no significant difference between PW and TDI in measuring atrial electromechanical delay. However, at postoperative 2 hours, peak A detection rates were mathematically but nonsignificantly greater by PWTDI than by PW. Second, there was a significant decreasing trend in atrial electromechanical interval from postoperative 2 hours to 3 months, but only postoperative 2-hour atrial electromechanical interval was significantly greater than atrial electromechanical interval at other time. Lastly, patients without postoperative 2-hour atrial electromechanical interval had a significantly longer duration of atrial fibrillation as compared to those with postoperative 2-hour atrial electromechanical interval, by the PW or by PW-TDI, respectively. In patients with persistent atrial fibrillation, atrial electromechanical interval may decrease significantly within the first 24 hours after ablation but remain consistent later, and was significantly related to patients' duration of atrial fibrillation. Atrial electromechanical interval, as a potential predicted factor, is recommended to be measured by either PW or TDI after 24 hours, when patients had recovered sinus rhythm by radiofrequency ablation.     

Screening for atrial fibrillation: sensitivity and specificity of a new methodology

There is no comprehensive screening programme for atrial fibrillation (AF) in either the UK or the US. This paper describes a simple new technology that could contribute to such a universal screening programme. The work analyses the utility of a new instrument that uses plethysmographic analysis of finger-tip pulse in the detection of AF. Comparative analysis of the instrument with the ‘gold-standard’ diagnostic method was undertaken in 594 patients. With the instrument set to detect all cases of AF (100% sensitivity), a specificity of 91.9% (8.1% false positives) was obtained. The authors conclude that the instrument described provides an accurate and reliable screening tool for AF, filling a gap in the current process of early detection in the community.     

Long non-coding RNA expression profile in atrial fibrillation

To investigate the expression profiles of long non-coding RNAs (lncRNAs) in atrial fibrillation (AF), atrial tissues from 3 AF patients and 3 non-AF patients that were collected for lncRNA expression microarray analyses to explore the role of lncRNA in the pathogenesis of AF. Gene Ontology (GO) categories and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were performed to identify the main functions of the differentially expressed genes and AF-related pathways. A total of 219 lncRNAs was found to be differentially expressed between AFs and controls. Among them, 156 were upregulated and 63 were downregulated. Eight out of 10 dysregulated lncRNAs such as uc001eqh.1 were validated by quantitative real-time PCR. GO categories, pathway analyses, and interaction network showed a consistent result that differentially expressed genes contribute to the pathogenesis of AF. In conclusion, the findings of our study provide a perspective on lncRNA in AF and the foundation for further study of the biological functions of lncRNAs in AF.     

Early experience using a left atrial appendage occlusion device in patients with atrial fibrillation

Purpose

Atrial fibrillation (AF) is one of the major risk factors for ischemic stroke, and 90% of thromboembolisms in these patients arise from the left atrial appendage (LAA). Recently, it has been documented that an LAA occlusion device (OD) is not inferior to warfarin therapy, and that it reduces mortality and risk of stroke in patients with AF.

Materials and Methods

We implanted LAA-ODs in 5 Korean patients (all male, 59.8±7.3 years old) with long-standing persistent AF or permanent AF via a percutaneous trans-septal approach.

Results

1) The major reasons for LAA-OD implantation were high risk of recurrent stroke (80%), labile international neutralizing ratio with hemorrhage (60%), and 3/5 (60%) patients had a past history of failed cardioversion for rhythm control. 2) The mean LA size was 51.3±5.0 mm and LAA size was 25.1×30.1 mm. We implanted the LAA-OD (28.8±3.4 mm device) successfully in all 5 patients with no complications. 3) After eight weeks of anticoagulation, all patients switched from warfarin to anti-platelet agent after confirmation of successful LAA occlusion by trans-esophageal echocardiography.

Conclusion

We report on our early experience with LAA-OD deployment in patients with 1) persistent or permanent AF who cannot tolerate anticoagulation despite significant risk of ischemic stroke, or 2) recurrent stroke in patients who are unable to maintain sinus rhythm.     

Surface ECG organization analysis to predict paroxysmal atrial fibrillation termination

The aim of this work is to predict non-invasively if an AF episode terminates spontaneously or not by analyzing the increase of atrial activity organization prior to paroxysmal atrial fibrillation (PAF) termination. Sample entropy was selected as non-linear organization index. Synthetic PAF signals were used to evaluate the notable impact of noise in AA organization estimation. Three strategies to reduce noise, ventricular residues and enhance the atrial activity main features were proposed. The best prediction results were obtained through main atrial wave (MAW) organization estimation. The MAW can be considered as the fundamental waveform associated to the AA. The 92% of the terminating and non-terminating analyzed PAF episodes were correctly classified. Thereby, it can be concluded that the MAW non-linear analysis from the surface ECG is a reliable and useful tool to predict spontaneous PAF termination.     

Fibroblast growth factor-21 is positively associated with atrial fibrosis in atrial fibrillation patients with rheumatic heart disease

Objective: Fibroblast growth factor-21 (FGF-21) has been discovered as a strong hormone, plays an important role in lipid metabolism, glucose metabolism, associated with several diseases such as obesity, metabolic syndrome, diabetes mellitus, and cardiovascular events; however, no evidence is available concerning the relationship of FGF-21 and atrial fibrosis in patients with atrial fibrillation (AF) and rheumatic heart disease (RHD). Methods: Twenty-four rheumatic heart disease patients were divided into two groups, 12 cases with AF and 12 cases with sinus rhythm (SR). Clinical characteristics and blood samples were collected before surgery; right atrial appendage samples were taken in the surgery of valve replacement. HE staining was performed to determine cross-sectional area of atrial myocytes; Masson stained sections and mRNA levels of cardiac fibrosis biomarkers were used to evaluate the degree of cardiac fibrosis; the level of FGF-21 was evaluated via enzyme-linked immunosorbent assay (ELISA), immunohistochemistry, and real-time polymerase chain reaction (PCR). Results: Compared with SR group, cross-sectional area of atrial myocytes and collagen volume fraction were significantly increased in the atrial tissue of AF group. The distribution of FGF-21 in the AF group was remarkably higher than SR group. In addition, plasma and mRNA levels of FGF-21 in atrial tissue of AF showed the same trend as the result of immunohistochemistry. Using linear correlation analysis, the expression level of FGF-21 was found to be positively related to the degree of atrial fibrosis. Conclusion: FGF-21 might involve in the development and maintenance of atrial fibrosis in atrial fibrillation with rheumatic heart disease, and FGF-21 could be used as a novel biomarker to evaluate myocardial fibrosis in the future.