男性不育患者Y染色体AZF基因微缺失检测和染色体核型分析

目的 探讨男性不育的遗传因素。方法 采用多重荧光定量PCR方法对60例严重少、弱精症和无精症的不育患者进行Y染色体AZF基因微缺失检测,同时用G显带方法分析染色体核型。结果 60例患者中有5例染色体核型异常,检出率为8.33%,且异常核型均为47,XXY,即克氏综合征。Y染色体AZF基因微缺失检出2例患者,检出率为3.33%,缺失类型均为AZFc区缺失。30例精液常规正常的健康志愿者未检出Y染色体AZF基因缺失。结论 染色体核型异常及Y染色体AZF基因微缺失与男性不育密切相关,且克氏综合征和AZFc区缺失为常见的异常类型。     

异性骨髓移植后无精症患者Y染色体的检测

目的报道异性骨髓移植后无精症患者1例,分析其Y染色体检测结果。方法采集该患者外周血样本。按人类细胞遗传学国际命名体制(ISCN)(2005)进行外周血染色体核型分析;运用多重聚合酶链反应(PCR)进行外周血及口腔黏膜拭子Y染色体AZF区微缺失检测;使用化学发光法检测血清生殖激素。结果该患者外周血染色体核型分析结果为46xx;外周血AZF区位点均缺失,口腔黏膜拭子AZF区位点均存在;卵泡刺激素及孕酮水平升高。结论 Y染色体AZF区微缺失是精子缺陷和男性不育的主要遗传因素之一,应对无精症和严重少精症患者进行AZF区微缺失筛查。异性骨髓移植成功患者细胞遗传学常表现为嵌合状态,当此类无精症患者外周血Y染色体AZF区微缺失时,应同时进行体细胞Y染色体AZF区微缺失检测,为明确无精症原因提供依据。     

山东地区260例男性不育Y染色体AZF微缺失诊断的临床研究

目的探讨山东地区男性不育人群与 Y 染色体无精子因子（AZF）微缺失的关系。方法采用外周血染色体G带检测方法对患者行染色体核型分析,筛选出Y染色体整体形态偏小者,对符合纳入标准的260例患者分为少精症患者A组（130例）和无精症患者B组（130例）,正常男性对照组C组（20例）及空白对照组D组。采用多重PCR扩增检测技术对Y染色体形态偏小患者进行AZF微基因检测。结果从检测出Y染色体形态偏小患者260例中,共检出54例Y染色体AZF微缺失,C组无AZF基因缺失,与A、B组比较,AZF a,b,c总缺失率明显低于A、B组,且有显著性差异（P＜0.05）。结论 Y染色体AZF微缺失可能是造成男性无精子症或少精子症的主要因素,因此对男性不育患者进行Y染色体AZF微缺失诊断具有重要意义。     

Y染色体AZF基因微缺失在诊断男性不育中的意义

目的探讨佛山地区男性不育症患者Y染色体无精症因子(AZF)微缺失检测的临床意义。方法应用荧光定量PCR技术对212例无精症或严重少精症患者(观察组)和120例健康体检者(对照组)的AZF区微缺失分析。结果共14例出现Y染色体AZF基因微缺失,总缺失率为6.6%,其中严重少精症患者缺失率为5.6%,无精子症患者缺失率为7.3%,AZF a区缺失1例,AZF b区缺失2例,AZF c区缺失8例,AZFb+c缺失2例,AZFa+b+c区缺失1例,c区发生率最高,其次为b区,a区发生率最低,对照组120例未发现微缺失,两组微缺失发生率比较,差异具有统计学意义(P0.05)。结论 Y染色体AZF微缺失的检测对原发性男性不育患者的诊断有重要的指导价值。     

Y 染色体微缺失检测对男性不育的临床价值研究

目的 探讨Y染色体无精子症因子(azoospermia factor AZF)基因微缺失检测对男性不育的临床诊疗价值。方法 选取2016年11月～2019年7月于徐州市妇幼保健院就诊的509例男性不育患者,依据临床诊断类型分为初诊为不育组(369例)、精子状态异常组(117例)和睾丸发育异常组(23例)。采用多重PCR技术进行Y染色体微缺失检测。结果 509例患者中检出Y染色体微缺失24例,检出率4.72%(24/509)。其中初诊为不育组11例,精子状态异常组9例和睾丸发育异常组4例,三组数据差异均具有统计学意义(χ²=13.004,P=0.002)。24例AZF基因微缺失患者中初诊为不育组检出AZFc区缺失10例,AZFabc区缺失1例; 精子状态异常组检出AZFc区缺失7例,AZFbc区及AZFb区缺失各1例; 睾丸发育异常组检出AZFc区缺失1例,AZFabc区缺失3例。三组数据差异具有统计学意义(χ²=15.093,P=0.020)。结论 Y染色体微缺失的检出有助于尽快明确部分男性不育的根本原因,从而指导临床制定出更加合理有效的诊疗方案。     

两例Y染色体嵌合体核型合并Y染色体微缺失病例分析

目的报道两例染色体嵌合体合并Y染色体微缺失的男性无精子症患者。方法利用细胞遗传学核型分析染色体核型;PCR技术检测外周血AZF、SRY基因及血清生殖激素检查为辅助检查。结果核型分析确定两例患者均为嵌合体,一例为46,XX/47,XXdel(Y)(q11),比例是19∶41。SRY基因存在,但Y染色体AZFc、d区sY152,sY157,sY254,sY255位点缺失。激素水平:高促卵泡激素,高黄体生成素,睾酮水平下降;一例为46,XY/45,X(YG),比例是51∶9。SRY基因存在,AZFbc、、d区sY127,sY152,sY157,sY254,sY255位点缺失。激素水平:高黄体生成素,睾酮水平下降。结论 Y染色体上AZFc和AZFd区上的基因可能与Y染色体稳定性相关,染色体嵌合体患者有必要进行Y染色体微缺失检测。     

运用MLPA技术检测男性不孕患者Y染色体微缺失的临床应用

目的调查男性不育患者中Y染色体微缺失的分布频率及缺失位点。方法选择2015年1月至2016年12月上海交通大学医学院附属瑞金医院妇产科生殖中心收治的110例男性不育患者,抽取外周静脉血DNA;运用多重链接依赖性探针扩增(MLPA)技术检测Y染色体微缺失情况,分析比较不同缺乏类型组Y染色体缺失率及缺失位点的差异。结果 110例男性不育患者中,有36例检出存在无精子因子(AZF)区不同程度微缺失,缺失率为32.7%;其中AZFc区缺失发生频率最高,占总缺失的75.0%(27/36);Y染色体微缺失患者无精、少精的发生率更高72.2%(26/36)。结论男性不育患者尤其是无精症/少精症患者Y染色体微缺失发生率较高,应在治疗前进行遗传检测及咨询。     

大(小)Y染色体患者AZF微缺失分析与临床疾病关系的探讨

目的观察大(小)Y染色体患者AZF微缺失的发生情况并探讨其与临床疾病的关系。方法采用外周血淋巴细胞培养G显带技术以及多重聚合酶链反应技术对患者AZF微缺失6个序列标签位点进行检测。结果本实验对象为大小Y染色体患者共78例,其中38例大Y染色体核型患者中男性不育21例,妻子有不良孕产史10例,有其他不良孕产史7例(包括出生缺陷、死胎、早产等),均未发现AZF微缺失;在40例小Y染色体核型患者中男性不育28例,妻子有不良孕产史12例,发现AZF微缺失3例。结论大(小)Y染色体患者显示出一定的临床效应,大Y染色体引起的不育可能与AZF缺失无关,小Y染色体的男性则有发生AZF微缺失的风险。     

H19基因甲基化在Y染色体异常男性不育患者中的表达

目的探讨H19基因甲基化在Y染色体异常男性不育患者中的表达及相关性。方法用实时荧光PCR探针法检测33例Y染色体异常男性不育患者的微缺失。梯度离心法提取33例Y染色体异常标本,采用亚硫酸氢盐对精液DNA进行修饰,修饰后的DNA样本进行PCR扩增及纯化,产物与p MD@18-T载体连接并经酶切验证,挑选阳性克隆测序并对H19基因甲基化程度进行差异分析。结果基因微缺失检测结果显示,33例Y染色体异常患者包括3例AZFa区缺失患者、14例AZFc区缺失患者、1例AZFbc区缺失患者和15例无缺失患者。33例患者中18例Y染色体微缺失患者的H19基因呈低甲基化水平;15例无缺失患者中有7例呈高甲基化水平,其余8例为正常甲基化水平。结论 AZF缺失男性不育患者与H19基因异常甲基化有关,在精子的生成和成熟过程起到重要作用。     

Y染色体微缺失与男性无精少精的相关关系

目的探讨Y染色体微缺失与男性无精少精的相关关系和临床意义。方法利用15个Y染色体特异序列标签位点,以多重PCR法对广州军区总医院2006年1月-2008年1月门诊的151例男性不育患者(25例无精症、126例少精症)进行Y染色体微缺失(AZF)检测。对照组为40例已正常生育的男性。结果151例男性不育患者中,AZF缺失8例,总缺失率为5.3%,其中25例无精症不育患者中,AZF缺失3例,缺失率为12%;126例少精症不育患者中,AZF缺失5例,缺失率为4.0%。AZFc和AZFd为缺失热区。对照组40例正常男性均未发现Y染色体微缺失。结论AZF缺失是男性不育症的重要原因之一,对临床上无精症、少精症患者应进行Y染色体微缺失检测。     

Determination of creatine kinase isoenzyme MB activity in serum using immunological inhibition of creatine kinase M subunit activity. Activity kinetics and diagnostic significance in myocardial infarction.

This is a new method for the determination of creatine kinase isoenzyme MB activity in serum. The method uses direct activity measurement of creatine kinase B subunit activity after blocking of CK-M subunit activity by inhibiting antibodies. The test takes no longer than 15 min. The method yields an intra-serial C.V. of 2.0-12.9%, and a C.V. from day to day of 5.5%. The detection limit is 3.4 U/l creatine kinase MB. In the 95 cases with proven myocardial infarction several types of creatine kinase MB activity kinetics could be determined. The percentage of creatine kinase MB of peak CK-total is 6-25%, with a mean of 11.1%. The amount of creatine kinase MB with respect to total CK activity after reinfarction is higher than the amount after initial infarction.     

Dissociable correlates of two classes of retrieval processing in prefrontal cortex

Although substantial evidence suggests that the prefrontal cortex (PFC) implements processes that are critical for accurate episodic memory judgments, the specific roles of different PFC subregions remain unclear. Here, we used event-related functional magnetic resonance imaging to distinguish between prefrontal activity related to operations that (1) influence processing of retrieval cues based on current task demands, or (2) are involved in monitoring the outputs of retrieval. Fourteen participants studied auditory words spoken by a male or female speaker and completed memory tests in which the stimuli were unstudied foil words and studied words spoken by either the same speaker at study, or the alternate speaker. On "general" test trials, participants were to determine whether each word was studied, regardless of the voice of the speaker, whereas on "specific" test trials, participants were to additionally distinguish between studied words that were spoken in the same voice or a different voice at study. Thus, on specific test trials, participants were explicitly required to attend to voice information in order to evaluate each test item. Anterior (right BA 10), dorsolateral prefrontal (right BA 46), and inferior frontal (bilateral BA 47/12) regions were more active during specific than during general trials. Activation in anterior and dorsolateral PFC was enhanced during specific test trials even in response to unstudied items, suggesting that activation in these regions was related to the differential processing of retrieval cues in the two tasks. In contrast, differences between specific and general test trials in inferior frontal regions (bilateral BA 47/12) were seen only for studied items, suggesting a role for these regions in post-retrieval monitoring processes. Results from this study are consistent with the idea that different PFC subregions implement distinct, but complementary processes that collectively support accurate episodic memory judgments.     

俯卧位通气对高海拔地区肺复张治疗无效急性呼吸窘迫综合征患者氧合的影响

目的 探讨俯卧位通气对高海拔地区肺复张术(RM)治疗无效急性呼吸窘迫综合征(ARDS)患者的治疗作用.方法 从海拔2260m的地区医院筛选RM治疗无效的41例ARDS患者[平均氧合指数( PaO2/FiO2)较RM前升高＜20％视为RM无效],依不同病因分为肺内源性ARDS组(ARDSp组)和肺外源性ARDS组(ARDSexp组),每组再按信封法随机分为俯卧位组和仰卧位组,即ARDSp俯卧位组(11例)、ARDSp仰卧位组(9例)、ARDSexp俯卧位组(10例)、ARDSexp仰卧位组(11例).在通气前及通气1、2、3、4h监测动脉血氧分压( PaO2)、PaO2/FiO2、静态顺应性(Cst)、气道阻力(Raw)的变化.结果 通气lh时,ARDSexp俯卧位组PaO2/FiO2( mm Hg,l mm Hg=0.133 kPa)即较通气前显著升高(157.4±40.6比129.3±48.7,P＜0.05),并随通气时间延长呈持续增高趋势,4h达峰值(219.1 ±41.1);且ARDSexp俯卧位组通气3h内PaO2/FiO2较其他3组显著增高,另3组间则差异无统计学意义.ARDSp俯卧位组、ARDSexp俯卧位组通气4h时PaO2/FiO2均较相应仰卧位组显著增高(208.8±39.7比127.4±47.1,219.1±41.1比124.9±50.8,均P＜0.05).4组通气前后Cst无显著改变,各组间差异也无统计学意义.ARDSp俯卧位组通气4h时Raw(cmH2O·L-1·s-1)较通气前显著降低(6.8±1.7比10.7±1.8,P＜0.05),且明显低于其他3组;其他3组各时间点Raw组内及组间比较差异均无统计学意义.结论 俯卧位通气作为ARDS机械通气重要策略之一,可以改善RM无效高原ARDS患者的氧合,为抢救患者赢得宝贵的时间.     

Digital imaging among medical facilities

The Department of Veterans Affairs (VA) in the USA operates a network of 172 medical centres which all utilize a hospital information system (HIS) which has been developed and is currently maintained by the VA. During the past several years, an image management and communication module has been developed, installed and clinically utilized at the Washington DC and Maryland VA Medical Centres. This image management and communication system, referred to as the decentralized hospital computer program (DHCP) imaging system, is fully integrated with a commercial picture archiving and communication system (PACS). The system is utilized to capture, archive, and display all images generated within the hospital including radiology, nuclear medicine, pathology, endoscopy, bronchoscopy, and dermatology, intraoperative photographs, ECG data, and a limited number of paper documents. The ultimate goal of the project is to have all patient text and image data available at any clinical workstation to any authorized user anywhere within the network of medical centres. Clinical requirements for an imaging workstation include ease of use, rapid and reliable access to the complete set of patient information, and images which are of acceptable quality to meet the requirements of the user and the subspecialty. Patient confidentiality and data security must be safeguarded at all times. Integration of the images with the remainder of the patient's database was found to be critical to the success of the project. The experience at the Washington and Maryland facilities suggests that an imaging system that is successfully integrated with a hospital information system can provide substantial clinical and economic benefits both within and among medical centres. Clinical acceptance and utilization of the system has been excellent, particularly in diagnostic radiology where DHCP Imaging has been interfaced to a commercial PAC system. Based upon this initial experience, the VA has begun to deploy the system throughout its large network of medical centres.     

Myocardial elastography at both high temporal and spatial resolution for the detection of infarcts

Myocardial elastography is a novel method for noninvasively assessing regional myocardial function, with the advantages of high spatial and temporal resolution and high signal-to-noise ratio (SNR). In this paper, in-vivo experiments were performed in anesthetized normal and infarcted mice (one day after left anterior descending coronary artery [LAD] ligation) using a high-resolution (30 MHz) ultrasound system (Vevo 770, VisualSonics Inc., Toronto, ON, Canada). Radiofrequency (RF) signals of the left ventricle (LV) in longitudinal (long-axis) view and the associated electrocardiogram (ECG) were simultaneously acquired. Using a retrospective ECG gating technique, 2-D full field-of-view RF frames were acquired at an extremely high frame rate (8 kHz) that resulted in high-quality incremental displacement and strain estimation of the myocardium. The incremental results were further accumulated to obtain the cumulative displacements and strains. Two-dimensional and M-mode displacement images and strain images (elastograms), as well as displacement and strain profiles as a function of time, were compared between normal and infarcted mice. Incremental results clearly depicted cardiac events including LV contraction, LV relaxation and isovolumetric phases in both normal and infarcted mice, and also evidently indicated reduced motion and deformation in the infarcted myocardium. The elastograms indicated that the infarcted regions underwent thinning during systole rather than thickening, as in the normal case. The cumulative elastograms were found to have higher elastographic SNR (SNR(e)) than the incremental elastograms (e.g., 10.6 vs. 4.7 in a normal myocardium, and 6.0 vs. 2.4 in an infarcted myocardium). Finally, preliminary statistical results from nine normal (m = 9) and seven infarcted (n = 7) mice indicated the capability of the cumulative strain in differentiating infracted from normal myocardia. In conclusion, myocardial elastography could provide regional strain information at simultaneously high temporal (>/=0.125 ms) and spatial ( approximately 55 microm) resolution as well as high precision ( approximately 0.05 microm displacement). This technique was thus capable of accurately characterizing normal myocardial function throughout an entire cardiac cycle, at the same high resolution, and detecting and localizing myocardial infarction in vivo.     

Guns and Knives in New Mexico: Patterns of Penetrating Trauma, 1978–1993

Objective: To identify patterns of nonfatal and fatal penetrating trauma among children and adults in New Mexico using ED and medical examiner data.
Methods: The authors retrospectively sampled in 5-year intervals all victims of penetrating trauma who presented to either the state Level-1 trauma center or the state medical examiner from a 16-year period (1978–1993). Rates of nonfatal and fatal firearm and stabbing injury were compared for children and adults.
Results: Rates of nonfatal injury were similar (firearm, 34.3 per 100,000 person-years; stabbing, 35.1). However, rates of fatal injury were significantly different (firearm, 21.9; stabbing, 2.7; relative risk: 8.2; 95% confidence interval: 5.4, 12.5). From 1978 to 1993, nonfatal injury rates increased for children (p = 0.0043) and adults (p < 0.0001), while fatal penetrating injury remained constant. The increase in nonfatal injury in children resulted from increased firearm injury rates. In adults, both stabbing and firearm nonfatal injury rates increased.
Conclusions: Nonfatal injury data suggest that nonfatal violence has increased; fatal injury data suggest that violent death rates have remained constant. Injury patterns vary by age, mechanism of trauma, and data source. These results suggest that ED and medical examiner data differ and that both are needed to guide injury prevention programs.