用荧光原位杂交技术检测唐氏综合征

目的: 探讨用荧光原位杂交技术在检测唐氏综合征中的应用价值。方法: 以Biotin标记的DSCR21q22.3探针与经处理的20例唐氏综合征患者标本外周血中期染色体及其间期细胞核进行原位杂交,统计杂交信号数量。结果: 14例唐氏综合征患者出现3个杂交信号的细胞,染色体和间期细胞核杂交平均出现率分别为98.79％和98.46％,与染色体检测的结果一致;其余染色体核型检测为嵌合体的6例患者,染色体和间期细胞核中3个杂交信号细胞平均出现率分别为75.33％和7 3.50％, 2个杂交信号细胞平均出现率分别为22.67％和21.33％。结论: 荧光原位杂交技术检测唐氏综合征具有快速、敏感度高、信号强、背景低、直观安全等优点,故FISH技术在临床遗传病检测领域中具有重要的应用价值和发展前景。     

荧光原位杂交技术在细胞遗传学中的应用

目的：探讨荧光原位杂交技术（ＦＩＳＨ）在细胞遗传学异常染色休核型分析中的应用价值。方法：应用Ｘ，Ｙ，１３／２１，１８号染色体α卫星ＤＮＡ探针（包括生物素标记及地高辛标记的探针，）对原Ｇ带核型为４６，ＸＯ＋ｒ？）；４６，ＸＯ＋ｉ（Ｘｐ）９７％／４７，ＸＯ＋２ｉ（Ｘｐ）３％；４７．ＸＸＸ／４５，ＸＯ；４７，ＸＹ＋２１等４例的外周血染色体及间期细胞进行原位杂交，并用正常男、女核型作为阳性对照，以不加探针的杂液反应为阴性对照，杂交后用ＯｌｙｍｐｕｓＢＸ６０荧光显微镜观察玻片并照像。结果：原Ｇ带核型４７，ＸＹ＋２１；４７，ＸＸＸ／４５，ＸＯ与ＦＩＳＨ结果一致，分别诊断为先天性愚型及Ｔｕｒｎｅｒ综合征。原Ｇ带核型４６，ＸＯ＋ｒ？的ｒ是征，其真正核型是４６，ＸＯ＋ｄｉｃ（Ｙｑ）／４７，ＸＯ＋２［ｄｉｃ，ｉ（Ｙｑ）］。正确诊断为Ｙ染色体结构异常与性腺发育不全综合征。结论：对一些常规Ｇ带难以确诊的复杂染色体结构畸变核型。如环状、易位等，ＦＩＳＨ技术具有非常重要的效用。     

应用荧光原位杂交技术快速诊断胎儿染色体数目异常

目的 探讨荧光原位杂交（ｆｌｕｏｒｅｃｅｎｔ ｉｎ ｓｉｔｕ ｈｙｂｒｉｄｉｚａｔｉｏｎ,ＦＩＳＨ）技术在快速产前诊断胎儿染色体数目异常中的价值。方法 对２０例孕１６￣３６周,有产前诊断指征者,在Ｂ超引导下经腹抽取羊水后,应用Ｘ、Ｙ、１８号染色体着丝粒探针１３ｑ１４－ｑ２１和２１ｑ１１特异性探讨,对未培养的羊水间期细胞进行ＦＩＳＨ,然后用荧光显微镜进行观察,并用Ａｐｐｌｉｅｄ ｉｍａｇｉｎｇ染色体     

应用双色荧光原位杂交技术检测一例49,XXXXY性染色体异常

目的:探讨用双色荧光原位杂交技术(dual-color fluorescence in situ hybridization,D-FISH)检测性染色体数目异常的实验方法及其应用价值。方法:以Biotin标记的X染色体α-卫星DNA(pBamX7)探针和以Digoxigenin标记的Y染色体长臂末端重复顺序(pY3.4)探针与经处理的标本同时进行外周血染色体及间期细胞核的原位杂交,分别用Avidin-FITC和Rhodamine-FITC及其Anti-avidin进行信号的检测与放大,DAPI复染。于Olympus AX-70型荧光显微镜下,分别通过WIB、WIG及其WU滤光镜观察杂交信号及其染色体或间期核背景,并统计外周血中期染色体和间期细胞核的杂交信号颗粒数。结果:在显微镜下可见以Biotin标记的pBamX7探针显示4个绿色杂交信号,以Digoxigenin标记的pY3.4探针显示1个红色杂交信号,染色体或细胞质背景经DAPI复染显示兰色;统计350个中期染色体和间期细胞核,X染色体杂交信号阳性率分别为91.43％和92.57％;Y染色体杂交信号阳性率分别为99.5％和99.8％。结论:双色荧光原位杂交技术是检测49,XXXXY性染色体异常以及其他性染色体数目异常患者的一种十分有价值的技术,具有高效、灵敏、可靠等特点,可为临床提供良好的辅助诊断。     

染色体13／21α卫得探针用于产前诊断21三体综合征

目的：探讨应用染色体13／21α卫星探荧光原位杂交（FISH）技术行产前论断21三体综合征的价值。方法：选择10例经产前细胞遗传学检查证实为孕正常胎儿孕妇的羊水细胞（对照组）、3例证实为21三体胎儿孕妇的羊水细胞（观察组）,用13／21α卫星探针对未经培养的羊水细胞间期核进行FISH杂交,结果：两组总杂交率分别为36．7％和38．6％,差异无显著性（P＞0．05）。对照组和观察组含4个杂交信号的核平均丰分比分别为36．5％和3．9％,含5个杂交信号的核平均百分比分别为4．0％和36．1％,差异有极显著性（P＜0．01）,含5个信号的百分比＜36．1％可作为21三体综合征的诊断标准。结论：13／21α卫星探针间期FISH用于未培养的羊不细胞可以快速,准确地在产前诊断21三体综合征。     

染色体13/21α卫星探针用于产前诊断21三体综合征

目的探讨应用染色体13/21α卫星探针荧光原位杂交（FISH）技术行产前诊断21三体综合征的价值。方法选择10例经产前细胞遗传学检查证实为孕正常胎儿孕妇的羊水细胞（对照组）、3例证实为孕21三体胎儿孕妇的羊水细胞（观察组）,用13/21α卫星探针对未经培养的羊水细胞间期核进行FISH杂交。结果两组总杂交率分别为36.7%和38.6%,差异无显著性（P>0.05）。对照组和观察组含4个杂交信号的核平均百分比分别为36.5%和3.9%,含5个杂交信号的核平均百分比分别为4.0%和36.1%,差异有极显著性（P<0.01）,含5个信号的核百分比＜36.1%可作为21三体综合征的诊断标准。结论 13/21α卫星探针间期FISH 用于未培养的羊水细胞可以快速、准确地在产前诊断21三体综合征。     

荧光原位杂交技术快速产前诊断胎儿血细胞非整倍体的价值

目的 探讨荧光原位杂交（FISH）技术在产前诊断脐血细胞非整倍体中的应用价值：方法 2004-06—2005-03，对广州市妇婴医院114例孕18～38W有产前诊断指征的孕妇进行脐血穿刺。采用X／Y染色体着丝粒探针和21q22．13-q22．2特异性探针对脐血细胞进行间期FISH检测，然后在荧光显微镜下观察，用Leica染色体核型自动分析仪QFISH软件进行图像的摄取和处理。同时所有脐血标本进行细胞培养，常规染色体G显带核型分析作为对照。结果 114例脐血标本都有FISH检测结果，107例具有正常核型染色体数目，异常7例，其中4例为唐氏综合征（3例为典型唐氏综合征，1例为嵌舍体），3例为性染色体数目异常。结论 FISH技术用于产前诊断脐血常见染色体数目异常，具有简便、快速、特异性强等优点，能为临床诊断提供依据。     

荧光原位杂交技术的妇产科应用进展

荧光原位杂交（FISH）技术是一门新兴的分子细胞学遗传技术,具有快速、安全、简便、高灵敏度、高特异性及多色等优点,已经广泛应用于分子细胞遗传学检测、间期细胞遗传学分析以及DNA片段的染色体定位等研究中。推动了临床细胞遗传学的发展。随着细胞遗传学研究技术的不断深入,在FISH技术上建立了比较基因组杂交技术（CGH）、微阵列比较基因组杂交技术（arrayCGH）。目前FISH技术在产前诊断、植入前遗传学诊断、妇科肿瘤相关基因诊断和分析中展现出更加广阔的应用前景。从FISH技术探针的类型、标记方法及在妇产科领域的应用做简要综述。     

荧光原位杂交(FISH)法快速产前诊断不经培养的羊水细胞非整倍性染色体:5000例

用染色体特定区域的专一探针行荧光原位杂交(fluorescence in Situ hybridization) 快速产前诊断非整倍性染色体是新近发展起来的一项新技术。本文以未经培养的羊水细胞对13、18、21、X和Y染色体进行了荧光原位杂交,诊断了常见的常染色体三体和性染色体的非整倍性;同时进行常规的细胞遗传学分析,并以此鉴别荧光原位杂交这一方法的灵敏性和特异性。对5000例羊水标本进行传统的细胞遗传学分析,之后做荧光原位杂交,对13、18、21、X和Y染色体数目用杂交法确定并将荧光原     

唐氏综合征的产前诊断分子技术研究进展

唐氏综合征是人类常见的染色体疾病，经典的细胞遗传学方法是诊断唐氏综合征的金标准，但其局限性不适合大规模的产前诊断。随着分子细胞遗传学技术发展，荧光原位杂交技术（FISH）、定量荧光PCR（QF-PCR）、微阵列-比较基因组杂交（Array CGH）、多重连接探针扩增技术（MIJPA）、引物原位标记技术（PRINs）等被用于唐氏综合征快速产前诊断，各种方法各有优劣，改进后会大力推进唐氏综合征的产前诊断速度和准确性。     

miRNAs小鼠哮喘模型中的作用初探

目的 探讨小鼠哮喘模型中miRNAs的差异表达情况.方法 将24只BALB/c小鼠随机分为正常对照组、卵清蛋白处理组、地塞米松治疗组各8只,使用血细胞分析仪检测每组肺泡灌洗液中嗜酸性粒细胞(EOS)、嗜中性粒细胞(NEU)、巨噬细胞(MAC)和淋巴细胞(LYM)的表达情况,通过ELISA的方法 检测每组肺泡灌洗液中白细...     

Role of ultrasound in the management of diabetes in pregnancy

The purpose of this review is to discuss the established role of ultrasound (US) in the management of pregnancy complicated by diabetes mellitus (DM), as well as new developments with regard to the use of US in this situation. We choose to explore the role of US in pregnancy complicated by DM in three areas:

(1) Role of US in estimation of fetal weight.

(2) Role of US in diagnosis of congenital malformation.

(3) Role of US in monitoring diabetic pregnant patients.     

Increase in incidence of gastroschisis in the South West of England in 1995

Objective To describe the incidence of gastroschisis and to identify possible aetiological factors.
Design A retrospective case review study.
Setting The South West Region of England.
Population All known cases of gastroschisis were identified from the regional fetal medicine, ultrasound, pathology and neonatal surgery databases. Datasets to be collected were agreed prospectively and included demographic, past medical, family and obstetric information for all pregnancies conceived between January 1987 and December 1995.
Results In the first eight years the incidence was 1.61 10,000 but in 1995 a highly statistically significant rise to 4.4/ 10,000 was found (   P = 0.0009  ). The increased incidence was not associated with changes in maternal age, proportion of primigravidae, use of tobacco or illicit drugs, conception while taking the oral contraceptive pill, or an increase in the number of teenage pregnancies. The median maternal age at last menstrual period for pregnancies with gastroschisis was 20.4 years which was much younger than the national average of 28 years. Thirty-seven percent of these conceptions occurred during the first quarter of the year compared with the expected 25%.
Conclusions The incidence of gastroschisis has risen to a higher level than previously reported which, despite a marked association with young maternal age at conception, is not due to an increase in the teenage pregnancy rate. As the average length of inpatient stay in the neonatal intensive care unit for cases with this malformation is approximately four weeks, the rise has considerable cost implications. The increasing incidence may also offer opportunities to determine the cause of gastroschisis.     

Challenges in the Practice of Sexual Medicine in the Time of COVID-19 in China

BackgroundIn March 2020, the World Health Organization declared coronavirus disease 2019 (COVID-19), which is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a pandemic. Currently, data on changes in sexual behavior during the COVID-19 outbreak are limited.AimThe present study aimed to obtain a preliminary understanding of the changes in people's sexual behavior, as a result of the pandemic, and explore the context in which they manifest.MethodsA convenience sample of 270 men and 189 women who completed an online survey consisting of 12 items plus an additional question were included in the study.OutcomesThe study outcomes were obtained using a study-specific questionnaire to assess the changes in people's sexual behavior.ResultsWhile there was a wide range of individual responses, our results showed that 44% of participants reported a decrease in the number of sexual partners and about 37% of participants reported a decrease in sexual frequency. Multiple regression analysis showed that age, partner relationship, and sexual desire were closely related to sexual frequency. In addition, we found that most individuals with risky sexual experiences had a rapid reduction in risky sexual behavior.Clinical ImplicationsThe current findings contribute to identifying another potential health implication associated with the COVID-19 pandemic and report preliminary evidence of the need to provide potential interventions for the population.Strength & LimitationsThis study is the first to perform a preliminary exploration of sexual behavior during the COVID-19 outbreak. The generalizability of the results is limited, given that only a small convenience sample was used.ConclusionDuring the height of the COVID-19 outbreak, overall sexual activity, frequency, and risky behaviors declined significantly among young men and women in China.Li W, Li G, Xin C, et al. Challenges in the Practice of Sexual Medicine in the Time of COVID-19 in China. J Sex Med 2020;17:1225–1228.     

Effectiveness of Antihypertensive Drugs in the Treatment of Hypertension in Pregnancy

The purpose of this open, prospective, randomized, comparative study was to examine the effectiveness of atenolol, a cardioselective beta₁ blocker, alphamethyldopa, an alpha-adrenergic antagonist, and ketanserin, a serotonin receptor antagonist, in the treatment of 90 patients (N–30 each) with severe chronic hypertension (ChH) during pregnancy or severe pregnancy-induced hypertension, with or without proteinuria in either case.

Arterial blood pressure (BP) for each drug group was analyzed at the onset of treatment, weekly for three weeks, and at the end of pregnancy. After one week of treatment a significant drop in BP was observed in the three groups of patients. Thereafter BP remained stable until the end of gestation, when a slight increase in BP was observed, especially in the group of patients treated with ketanserin.

No significant difference was observed between the groups in mean birthweight and perinatal morbidity and mortality. No adverse effects from the drugs on the fetus or newborn were observed. No significant difference was observed among the three drugs in their antihypertensive effect. However, given the relatively small numbers of patients studied, definitive statements regarding the relative efficacy and safety of alphamethyldopa, ketanserin and atenolol cannot be made. Thus, additional, larger controlled trials of these agents are required.     

Seroprevalence of TORCH infections in women of childbearing age in Croatia

During 2005–2009, a seroepidemiological study was carried out in Croatia to define the population susceptible to common TORCH agents among pregnant and non-pregnant women of childbearing age. The IgG seroprevalence was 29.1% forT. gondii, 94.6% for rubella, 75.3% for cytomegalovirus (CMV), 78.7% for herpes simplex virus type 1 (HSV-1), and 6.8% for HSV-2. Acute toxoplasmosis and CMV infection (positive IgM antibodies with low IgG avidity) were documented in 0.25% and 0.09% women, respectively. IgM prevalence was 1.2% for both HSV-1 and HSV-2. None of the participants showed acute rubella infection. Seropositivity to T. gondii and HSV-2 varied significantly between age groups (p?=?0.001 and p?=?0.036, respectively). Women residing in rural regions showed a significantly higher seroprevalence rate for T. gondii, CMV, and HSV-1 than urban women (T. gondii: 44.0% vs. 25.4%, p?<?0.001; CMV: 85.0% vs. 73.1%, p?=?0.018; HSV-1: 86.0% vs. 76.4%, p?=?0.041).     

细胞自噬在子宫腺肌病发病机制中作用的研究进展

子宫腺肌病(adenomyosis)作为女性常见疾病之一,其常见症状如痛经、经量过多对患者生活质量造成严重影响,常并发贫血甚至休克,子宫腺肌病还可导致不良妊娠及不孕症。子宫腺肌病保守治疗效果较差、较易复发,部分患者需接受手术治疗。子宫腺肌病的发病机制目前尚不明确,近年也逐渐成为妇科领域的研究热点。细胞自噬(autophagy)作为调节细胞生长代谢的重要生理机制,其在包括肿瘤在内的众多疾病的发生、发展中发挥着重要作用。近年细胞自噬在子宫腺肌病发生、发展及转归方面的作用日益引起关注,针对两者之间关系的研究也越来越多。总结自噬在子宫腺肌病中作用的最新相关研究进展,并对自噬在子宫腺肌病治疗中的潜在作用进行探讨。     

广州地区6493例女性生殖道人乳头状瘤病毒检测结果分析

目的了解广州地区妇女生殖道人乳头状瘤病毒感染状况和基因亚型分布。方法 2006年10月至2010年2月,采用核酸分子快速导流杂交基因芯片分型技术(HybriMax)对广州地区6493例女性进行人乳头状瘤病毒检测,并对HPVDNA亚型、感染率和年龄分布进行分析。结果 6493例女性中检出HPV阳性1947例,阳性率为29.99%。阳性感染者中,单一型感染最多,为1436例,占73.75%,其中高危单一型感染者1143例,占58.71%,低危单一型感染者293例,占15.05%;混合型感染者511例,占26.25%,主要为双重感染,占19.41%。15个与宫颈癌密切相关的HPV高危亚型阳性率为25.24%,6个低危亚型HPV感染阳性率为7.98%。排在前十位的亚型分别是HPV52(25.22%)、HPV58(14.20%)、HPV16(13.56%)、HPV6(9.76%)、HPV11(8.32%)、HPV53(7.70%)、HPV33(6.73%)、CP8304(6.68)、HPV68(6.63)、HPV18(6.52%)。在各年龄组中,小于20岁女性感染率最高,为52.5%,各年龄组HPV感染差异有统计学意义...