β-地中海贫血的基因诊断及产前基因诊断

目的减少β-地中海贫血重症患儿的出生.方法对106例经血液学筛查疑为β-地中海贫血的杂合子携带者行PCR-RDB法进行基因诊断及产前基因诊断.结果共筛出β-地中海贫血阳性患者52例;19例产前基因诊断中,确定正常胎儿9例,重症胎儿2例(纯合子1例,双重杂合子1例),重症β-地中海贫血胎儿诊断后采取引产术终止妊娠.结论PCR-RDB法进行基因诊断及产前基因诊断有效避免了重症患儿的出生,达到了优生的目的.     

广西贵港地区地中海贫血高危孕妇产前诊断分析

目的加强地中海贫血高危孕妇产前诊断,以减少重症地中海贫血患儿的出生。方法通过婚育地中海贫血高危夫妇行地贫基因检测,对同型有出生重型地贫患儿风险的孕妇进行产前基因诊断。结果 480例高危孕妇中,重型或中间型β地贫29例,重型α地贫56例,中间型α地贫41例。结论通过对地中海贫血高危孕妇产前基因诊断,快速准确检测出重型地贫胎儿,为临床诊断提供重要的依据,防止重型胎儿的出生。     

重型地中海贫血产前诊断的实验研究

目的 建立重庆地区常见的α、β地中海贫血的基因诊断方法,探讨妊娠三个月后胎儿重型地中海贫血的产前实验诊断,降低围生儿出生缺陷、提高人口素质.方法 对所有产前检查的孕妇进行广泛的血液学检测,筛查地贫,疑似病例进行基因诊断;确诊孕妇地贫后及时检测丈夫.当夫妇携带同型地贫基因后,抽取脐带血或羊水快速对胎儿基因做出明确诊断,适时终止妊娠,降低母胎风险.结果 地贫携带者孕妇65例,3例夫妇为同型地贫携带者,1例孕Hb Bart′s水肿胎,1例孕β17/βE双重杂合子;1例β41-42/βE重型地贫孕妇,丈夫系β654杂合子,孕βE胎儿,前2例及时引产,后1例伺机诱导分娩,分娩后脐血基因检测与产前诊断相符.结论 产检孕妇进行系统的地贫血液学筛查,必要时基因诊断,监控同型地贫夫妇孕育,杜绝重症地贫儿,伴不良孕产史,更需及早产前诊断和妊娠处理.     

广东清远地区513例地中海贫血高危孕妇产前基因诊断分析

目的了解广东省清远市地中海贫血高危孕妇的产前基因诊断情况,以期能够有效避免地中海贫血患儿的出生,降低清远市新生儿出生缺陷率。方法选取我院2013年6月-2018年6月间收治的513例地中海贫血高危孕妇(19例瑶族)作为研究对象进行研究,对所有高危孕妇进行基因诊断分析,同时在孕期对风险胎儿行脐血或羊水地中海贫血基因诊断。结果 531例地贫高危孕妇中共113例(22.08%)基因诊断显示为正常,静止型和轻型α-地贫分别为56例(10.83%)和121例(23.54%),中间型和重型α-地贫分别为44例(8.54%)和60例(11.67%),轻型β-地贫和轻型β-地贫并α-地贫分别为60例(11.67%)和29例(5.63%),中间型和重型β-地贫分别为14例(2.71%)和17例(3.33%);135例中重型α和β地贫孕妇中间型α地贫常见的基因类型为--SEA/-α3.7、--SEA/-αCSα和--SEA/-α4.2,重型α地贫常见基因类型是--SEA/--SEA,中间型和重型β地贫常见的基因类型是β41-42/β41-42、β41-42/β17和β41-42/β-28,临床上应予以重视。77例重型α和β地贫孕妇经建议均选择终止妊娠,58例中间型α和β地贫孕妇经过充分风险告知后39例选择终止妊娠,19例选择继续妊娠。19例瑶族孕妇中检出4例重型地贫胎儿(3例巴氏水肿胎、1例重型β地贫)。结论通过广泛实施地中海贫血基因筛查,对于地中海贫血高危孕妇进一步进行产前基因诊断,能够有效分辨出中间型和重型地贫胎儿,并采取针对性的处理措施,预防重型地贫胎儿的出生,减轻地贫患儿家庭及社会医疗负担。     

2279例地中海贫血基因诊断的分析与研究

目的预防地中海贫血重症患儿的出生,减少出生缺陷。方法对16443例育龄人群采用地中海贫血定量法进行筛查,筛查夫妻均为携带者用单管多重PCR(mPCR)及DNA芯片反向点杂交(ASO/RBD-PCR)检测技术,分别进行α、β地中海贫血基因检测基因产前诊断。结果16443例受检者中筛查阳性6393例;其中2279例接受α、β地贫基因诊断,检出率分别为29.57%、48.31%。结论选择适当的检测方法对孕龄人群进行地贫诊断,对优生优育、干预地贫儿出生有着重要作用。     

佛山地区地中海贫血的产前筛查和产前基因诊断

目的报道近两年佛山地区地中海贫血的基因突变类型和产前基因诊断情况。方法对2007年7月至2009年7月来我院进行产前检查的患者进行筛查,怀疑地中海贫血的患者进一步行基因诊断,夫妇双方确诊为同型地中海贫血的孕妇抽取羊水或脐血进行产前基因诊断。回顾资料,统计出近两年来佛山地区的地中海贫血基因突变类型和产前基因诊断情况。结果β地贫基因诊断2569人次,阳性率为33.94%(872/2569),共发现12种β地中海贫血基因突变类型,其中41-42型杂合突变占42.09%;α地贫基因诊断3243人次,阳性率为40.64%(1318/3243),其中东南亚缺失型占74.81%。产前诊断检测出41例中重型β地中海贫血胎儿,26例bart′s水肿胎,15例血红蛋白H病胎儿。结论产前筛查和产前诊断是控制佛山地区重型地中海贫血患儿出生的有效和必要手段。     

东莞地区26906对育龄夫妇地中海贫血筛查结果分析

目的初步了解东莞地区育龄人群地中海贫血患病率及其基因类型,加强该地区育龄人群地中海贫血筛查工作以预防重症地贫患儿的出生。方法通过检测26 906对育龄夫妇外周血的平均红细胞容积(MCV)平均红细胞血红蛋白含量(MCH)和红细胞脆性(一管法)进行地中海贫血的筛查。对筛查阳性者送广州金域检验进行α、β地中海贫血基因诊断,对夫妇双方筛查同为阳性者的夫妇同时送广东省计划生育科研所进行α、β地中海贫血基因诊断。结果 26 906对育龄夫妇中,平均红细胞容积(MCV)平均红细胞血红蛋白含量(MCH)筛查阳性者6891例,红细胞脆性(一管法)筛查阳性者3717例。其中6973例接受α、β地贫基因检测,确诊a地贫3328例(6.18%),β地贫1493例(2.77%),α、β复合地贫135例(0.25%),筛查阳性诊断率分别为71.5%;85%。结论东莞地区是地贫高发区,人群携带率也较高,其α、B地贫基因型分布的特点符合中国南方地区的基本特点。对育龄人群进行地贫的筛查和基因诊断,是预防重型地贫儿出生的有效措施。     

湘潭地区8986例孕妇地中海贫血检测结果分析

目的了解湘潭地区孕妇地中海贫血(简称地贫)基因携带率和基因类型,评估产前筛查地贫干预模式的价值。方法采用血液学检查和血红蛋白电泳对产前检查的孕妇进行实验室检查,筛查阳性者进一步进行基因分析诊断。结果8986例孕妇中筛查表型阳性2038例,经基因分析,诊断地贫602例,包括α-地中海贫血268例,β-地中海贫血320例,同时检出α复合β-地中海贫血14例。结论湘潭地区地中海贫血具有一定的人群携带率,在孕妇中联合应用血液学筛查与血红蛋白电泳筛查及产前诊断,是预防重型地贫儿出生的有效措施,建立婚前、产前联合筛查的地贫干预模式,对指导优生优育更具有意义。     

28818例孕妇地中海贫血筛查与诊断分析

目的探讨以孕妇为对象的干预模式在地中海贫血预防中的价值。方法 2016年1月～2017年12月对在广西壮族自治区妇幼保健院就诊的28 818例孕妇采用血液学指标进行地中海贫血筛查,筛查阳性者进行基因检测,并对其丈夫进行地中海贫血筛查及基因诊断,对高风险妊娠进行产前诊断。结果 28 818例孕妇中检出地中海贫血表型6043例,2815例进行α地中海贫血基因检测,确诊2273例,主要基因型为--SEA/αα;801例进行β地中海贫血基因检测,确诊769例,主要基因型为CD41-42/N、CD17/N和-28/N,检出复合α地中海贫血164例。筛查阳性孕妇的丈夫有3028例进行筛查及基因诊断,共发现高风险妊娠357例,胎儿确诊为重型α地中海贫血75例、中间型和重型β地中海贫血15例。结论孕妇为筛查对象的地中海贫血干预模式能有效地控制重型地贫患儿出生。     

婚检人群地中海贫血筛查与产前诊断

目的减少本地区中重症α和β地中海贫血儿的出生率,提高出生人口素质.方法取在本院婚检的5810对育龄男女进行地中海贫血血液学筛查,初筛阳性者进行基因诊断,对有生中重症地贫儿风险的配偶,于妊娠中期进行胎儿产前诊断.结果 5810对婚检男女中,高风险者73对,占1.26%,对其中51例妊娠进行羊水产前诊断,检出重型β地贫7例,Hb Bart's水肿胎3例,HbH病3例,对重型地贫胎儿予终止妊娠.结论在高发区婚检人群进行地贫筛查,对预防重型地贫儿出生有积极的意义.     

舌脉客观化互动式辨证诊疗系统

客观化舌脉诊疗系统是用于中医诊疗的客观化辅助系统.在硬件上采用ZM-1型脉象仪作为心脉信号传感器,完成脉象采集、放大、滤波处理等任务;选用UA303型A/D采集器做为计算机接口;以计算机作为人机交互、软件处理和显示终端.在软件上,用Visual C 开发了基于数据库的舌象和脉象互动式综合辨证诊疗系统.本系统的任务是辅助中医师记录病情、参与辨证、提示诊断、协助处方,其特点是结构轻便,操作简单,成本低,稳定性好.适用于各科研单位的脉象客观化研究和各中医院、中医诊所的中医诊断,同时也可以为中西医结合提供中医的诊断依据.     

The approach of scratch‐imprint cytology: Is it an alternative to frozen section for intraoperative assessment of pulmonary lesions?

To address the diagnostic performance of scratch‐imprint cytology (SIC), in this study we compared intraoperative diagnoses of pulmonary lesions between SIC and frozen section histology (FSH) for accuracy with respect to the final pathological diagnosis. We histologically divided 206 pulmonary lesions (resected surgically) into two groups (benign and malignant) and compared each intraoperative diagnosis by SIC and FSH with the final pathological diagnoses. We also examined the radiological existence of pure ground‐glass opacity (GGO) nodules in each group. The diagnostic sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 91.5%, 100%, 100%, 63.6%, and 92.6%, respectively for SIC, and 98.2%, 100%, 100%, 92.1% and 98.5%, respectively, for FSH. Thus, we concluded that diagnosis by SIC is reliable for malignancy, but not for benign lesions. All pure GGO nodules (19; 9.2%) were noninfectious and malignant with a high accuracy of FSH diagnosis (100%), in comparison with those of low accuracy with a SIC diagnosis (57.9%). SIC can be an appropriate intraoperative diagnostic tool where multiple cytotechnologists observe intraoperative SIC preparations scratched evenly across the whole lesion including the peripheral area of the mass.     

基于灰色关联分析的中医证候推理诊断方法

针对中医诊断专家系统存在的问题,通过模拟专家诊断的思维过程,引入征候筛选和灰色关联分析模型对诊断过程进行模拟和评价,实现了一个新的计算机化中医诊断方法。     

肺炎支原体实验室诊断的研究进展

肺炎支原体（MP）是一种常见的呼吸系统感染病原体,约占儿童社区获得性肺炎病例的40%。MP不仅引起肺部病变,也能侵犯心、脑、肝、肾等其他器官,引起多种肺外表现。然而MP感染临床表现不具有特征性,临床上亦缺乏早期有效的诊断方法,容易和其他病毒、细菌所致的呼吸道感染相混淆。目前MP的实验室诊断方法不断推陈出新,但各种方法均有其优势与不足,本文对此作一简要综述。     

Ovarian cancer diagnosis with complementary learning fuzzy neural network

OBJECTIVE: Early detection is paramount to reduce the high death rate of ovarian cancer. Unfortunately, current detection tool is not sensitive. New techniques such as deoxyribonucleic acid (DNA) micro-array and proteomics data are difficult to analyze due to high dimensionality, whereas conventional methods such as blood test are neither sensitive nor specific. METHODS: Thus, a functional model of human pattern recognition known as complementary learning fuzzy neural network (CLFNN) is proposed to aid existing diagnosis methods. In contrast to conventional computational intelligence methods, CLFNN exploits the lateral inhibition between positive and negative samples. Moreover, it is equipped with autonomous rule generation facility. An example named fuzzy adaptive learning control network with another adaptive resonance theory (FALCON-AART) is used to illustrate the performance of CLFNN. RESULTS: The confluence of CLFNN-micro-array, CLFNN-blood test, and CLFNN-proteomics demonstrate good sensitivity and specificity in the experiments. The diagnosis decision is accurate and consistent. CLFNN also outperforms most of the conventional methods. CONCLUSIONS: This research work demonstrates that the confluence of CLFNN-DNA micro-array, CLFNN-blood tests, and CLFNN-proteomic test improves the diagnosis accuracy with higher consistency. CLFNN exhibits good performance in ovarian cancer diagnosis in general. Thus, CLFNN is a promising tool for clinical decision support.     

甲型血友病基因诊断及产前诊断的研究进展

甲型血友病是最常见的遗传性出血性疾病,受到了国内外研究者们的极大关注。由于此病尚无彻底根治方法,所以基因诊断及产前诊断显得尤为重要。基因诊断可分为直接基因诊断及间接连锁分析的方法。产前诊断的手段也在近年飞速发展。本文将就直接基因诊断、间接连锁分析及产前诊断新技术这几方面的研究进展综述如下。     

Prenatal diagnosis of perinatally lethal osteogenesis imperfecta

Prenatal diagnosis of osteogenesis imperfecta was achieved at 17 weeks of gestation using ultrasound through recognition of low echogenic properties of all the bones, abnormally shaped skull, bell-shaped rib cage, distally thinned ribs, short and deformed long bones, wide metaphyses, and thin diaphyses. Severely limited abnormal movements, abnormal positioning of the lower limbs also were typical of the condition. The recognition of the signs reported in this paper will allow the identification of the condition in utero in the second trimester.     

脊索瘤2例临床病理特征并文献复习

目的：探讨脊索瘤的临床病理特征、诊断及鉴别诊断、治疗和预后。方法：对本研究组的2例脊索瘤的临床病理特征和免疫组织化学特点进行分析,并结合相关文献复习。结果：脊索瘤瘤细胞呈分叶状结构,细胞散在或呈条索及小巢状,液滴状细胞体积较大,胞浆中含大小不等的空泡;另一种体积小呈星芒状,且胞浆内无空泡。免疫组织化学显示,1例瘤细胞CK、EMA、S-100、Vimentin阳性表达,另1例CK、EMA、Vimentin阳性表达,而S-100阴性。结论：脊索瘤发病率低,但根据其常见的发病部位及特征性的组织形态,结合免疫组织化学方法,有助于其诊断及鉴别诊断。     

Inhalation and nasal challenge in the diagnosis of aspirin-induced asthma

Inhalation and nasal aspirin challenge has been investigated in asthma patients with co-existing rhinitis. Eight of 39 asthma patients were diagnosed as aspirin-sensitive on the basis of inhalation challenge. Seven aspirin-sensitive asthmatics were subjected to nasal aspirin provocation. During nasal challenge, all seven patients experienced a fall in FEV1 of at least 15%, two showed a significant increase (greater than 400%) in nasal airways resistance (NAR) and one developed urticaria. No significant changes in FEV1 or NAR were observed in nine normal subjects after aspirin inhalation and nasal challenge. There were no significant changes in FEV1 or NAR in six aspirin-tolerant asthmatics when aspirin was given intranasally. The results of this study show that aspirin nasal provocation impairs lung function in aspirin-sensitive asthmatics. In comparison with inhalation challenge responses are generally milder and easier to control. Nasal challenge is also less time-consuming than other methods of aspirin challenge and is therefore more suitable for routine use.