MBL基因多态性及血清MBL浓度与狼疮性肾炎的关系

目的探讨狼疮性肾炎(LN)与甘露聚糖结合凝集素(MBL)基因第一外显子54位密码子和启动子序列多态性及血清MBL浓度的关系。方法用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术和序列特异性引物PCR(SSP-PCR)技术分析对照组(n=40)和LN组(n=49)MBL第一外显子54位密码子及启动子区-550的H/L和-221的X/Y多态性。用ELISA法测定血清MBL浓度。结果LN组MBL第54位密码子GAC等位基因频率高于对照组(0.173vs0.112),但无显著性差异;启动子单倍型LX显著高于对照组(P(0.05);对照组GGC/GGC基因型和启动子HY/HY型的血清MBL浓度显著高于LN组(P<0.05～0.01)。LN组和对照组中血清MBL浓度低于1000μg/L者分别为40.8%和17.5%,两组相比有显著性差异(P(0.05)。结论LN患者血清MBL浓度显著降低与MBL基因启动子LX型增加有关。     

反复呼吸道感染儿童血浆MBL水平及基因突变特征

目的探讨血浆甘露聚糖结合凝集素（MBL）水平及基因多态性与儿童反复呼吸道感染（RRTI）的关系。方法选择110例RRTI儿童及111例健康儿童（均为汉族）为研究对象。应用酶联免疫吸附试验（ELISA）方法检测其血浆MBL水平,聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测MBL基因第一外显子54密码子、57密码子基因型和多态性。结果 RRTI儿童血浆MBL水平显著低于健康儿童组（t=7.19,P〈0.01）;各年龄段RRTI儿童血浆MBL水平均明显低于同年龄段健康儿童组（t=2.15～3.55,P〈0.05、0.01）,但RRTI儿童各年龄段间比较差异无显著性（P〉0.05）。RRTI组MBL水平低下者检出率（23%）显著高于健康儿童组（6%）（χ2=9.12,P〈0.01）,MBL基因第一外显子54密码子基因型GGC/GGC、GGC/GAC、GAC/GAC分别对应高、中及低血清MBL水平。RRTI组MBL基因第一外显子54密码子等位基因GAC及GGC/GAC型突变杂合子频率显著高于健康儿童组（χ2=4.47～5.64,P〈0.05）。两组均未检出57密码子突变个体。结论 MBL缺陷是RRTI的重要原因,与低MBL水平相关的MBL基因第一外显子54密码子等位基因GAC是儿童RRTI的危险因素。     

系统性红斑狼疮病人MBL基因多态性位点和血清MBL浓度的关系

目的研究SLE病人M BL基因第54号密码子和启动子序列多态位点与血清M BL水平的关系。方法用多聚酶链反应-限制性片段长度多态性位点(PCR-RFLP)分析技术和PCR技术分别分析了92名正常人和104名SLE患者的M BL基因外显子1第54号密码子及启动子的多态性位点,同时用EL ISA法测定了血清M BL浓度。结果正常人和SLE病人M BL基因第54号密码子基因型分布频率GGC/GGC型和GGC/GAC型无显著性差异,但正常人组血清M BL浓度显著高于SLE病人组;两组人员M BL启动子多态性位点HY/HY型M BL血清浓度明显高于其它等位基因型,SLE病人各基因型血清浓度均低于正常组;HY/LX型(30.8%)显著高于正常人组(13.0%)(P<0.01)。结论SLE病人的血清M BL浓度明显降低与M BL基因启动子LX型增加有关,但与第54号密码子变异无相关性。     

甘露糖结合凝集素的基因多态性与复发性肾病综合征的关系

目的：探讨甘露糖结合凝集素（MBL ）的基因多态性与复发性肾病综合征的关系。方法对66例复发的肾病综合征患者和40例健康成人用序列特异性引物聚合酶链反应（SSP-PCR）和实时定量荧光聚合酶链反应分别检测MBL启动子和外显子1第54号密码子的基因多态性位点,同时采用酶联免疫吸附试验检测血清中MBL浓度。结果复发性肾病综合征患者和健康对照者中高表达MBL的基因型血清MBL浓度均高于低表达MBL的基因型,差异有统计学意义（P＜0．05）;复发的肾病综合征患者血清MBL浓度低于对照组,差异有统计学意义（P＜0．05）。复发性肾病综合征患者有前驱感染病史者,MBL的基因型低表达者多于高表达者,差异有统计学意义（P＜0．05）。结论推测MBL的基因变异导致血清MBL浓度降低,诱发感染发生,引起肾病综合征患者经常复发。     

免疫学检验与临床

082066蒙古族与回族人群MBL结构基因型及其与血浆蛋白浓度的关系／梁园…∥中国免疫学杂志．-2008,24（4）．-328～331用ELISA法检测血浆甘露聚糖结合凝集素（MBL）浓度,用序列分析法分析MBL基因外显子1区52、54和57密码子的单核苷酸多态性,分析内蒙古自治区蒙古族人群和宁夏回族自治区回族人群血浆MBL的结构基因型,并探讨其与血浆蛋白浓度的关系。     

MTHFR基因C677T位点多态性及血脂水平与GDM的关系

目的 探讨亚甲基四氢叶酸还原酶（MTHFR）基因C677T位点多态性及血脂水平与妊娠糖尿病（GDM）的关系。方法 选取GDM患者144例（GDM组）,以142例正常孕妇作为对照组。检测所有对象的MTHFR基因C677T位点多态性及血脂[总胆固醇（TC）、三酰甘油（TG）、低密度脂蛋白胆固醇（LDL-C）和高密度脂蛋白胆固醇（HDL-C）]水平,计算非高密度脂蛋白胆固醇（non-HDL-C）水平。结果 GDM组MTHFR基因型分布及等位基因频率与对照组比较,差异均有统计学意义（P<0.01）。与对照组比较,GDM组TG、TC、LDL-C和non-HDL-C水平显著升高（P<0.05）,HDL-C水平显著降低（P<0.01）。与CC基因型的GDM患者比较,TT基因型的GDM患者TC、non-HDL-C水平升高（P<0.05）,HDL-C水平降低（P<0.01）;CT基因型的GDM患者TG、TC、LDL-C和non-HDL-C水平升高（P<0.05）,HDL-C水平降低（P<0.01）。与CC基因型的正常孕妇比较,TT和CT基因型的正常孕妇TG、TC...     

慢性丙型肝炎病毒感染者甘露糖结合凝集素基因多态性研究

目的研究丙型肝炎病毒（HCV）感染者甘露糖结合凝集素（MBL）基因多态性。方法应用序列特异性引物PCR法（PCR-SSP）方法检测甘肃地区汉族150例慢性丙型肝炎及75例健康对照者MBL第一外显子（EXONⅠ）52、54、57位基因型。结果甘肃地区汉族人群MBL基因EXONⅠ的52,57位没有检测出突变体,而54位基因在HCV感染者和在正常对照者中的基因型频率和基因频率比较差异均无统计学意义（P〉0.05）;丙氨酸转氨酶（ALT）〉80U/L、ALT〈40U/L两组基因型频率和等位基因频率比较差异均有统计学意义（P〈0.05）;HCV-RNA定量中、高载量组与低载量组MBL-54位基因型频率和基因频率比较差异也均有统计学意义（P〈0.05）。结论 HCV感染者MBL的EXONⅠ54位基因多态性与慢性HCV感染无显著相关性,而54位等位基因与ALT的升高和HCV-RNA载量有一定的相关性。     

MBL ExonI54位点和NFκB1-94ins/del ATTG基因多态性与急性白血病患者化疗后粒细胞缺乏性发热的相关性研究

目的:探讨汉族人群的甘露聚糖结合凝集素(mannan-binding lectin,MBL)结构基因第1外显子第54位点和NFκB1基因启动序列-94ins/del ATTG基因多态性与初诊急性白血病患者首次化疗后发生粒细胞缺乏性发热的相关性。方法:检测汉族人群初诊急性白血病(M3型除外)接受首次化疗患者的MBL ExonI 54位点和NFκB1-94ins/del ATTG基因多态性分布,分析两种基因多态性与急性白血病患者首次化疗后发生粒细胞缺乏性发热的相关性。结果:共检测76例患者,并未发现MBL ExonI 54位点和NFκB1-94ins/del ATTG基因多态性与急性白血病患者化疗后粒细胞缺乏性发热相关,差异无明显统计学意义(P0.05);而且急性白血病患者化疗后粒细胞缺乏性发热组的MBL ExonI 54位点和NFκB1-94ins/del ATTG的不同基因型与患者的性别、年龄、不同疾病类型、首次化疗后疾病状态和化疗后的粒细胞缺乏性程度均无明显相关性(P0.05),但MBL ExonI 54位点突变(GGC54GAC)患者发生粒细胞缺乏性发热持续时间比无突变患者发生粒细胞缺乏性发热持续时间长(5 d vs 3 d P0.05)。结论:MBL ExonI 54位点和NFκB1-94ins/del ATTG基因多态性与汉族人群急性白血病患者首次化疗后发生的粒细胞缺乏性发热无关,但MBL ExonI 54位点突变(GGC54GAC)患者粒细胞缺乏性发热的持续时间更长。     

同型半胱氨酸及C677T基因多态性与妊娠期糖尿病关系分析

目的探讨同型半胱氨酸(Hcy)及亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点多态性与妊娠期糖尿病(GDM)的相关性。方法以91例GDM孕妇为GDM组,123例正常妊娠孕妇为对照组,检测MTHFR C677T基因多态性及血清Hcy、血糖水平。结果 GDM组Hcy水平高于对照组,Hcy水平与空腹血糖水平呈正相关(P0.05)。GDM组与对照组MTHFR C677T多态性基因CC、CT、TT分布频率比较差异有统计学意义(P0.05)。GDM组TT型基因携带者Hcy水平高于CC型基因携带者(P0.05)。结论 Hcy与GDM的发生、发展密切相关。MTHFR C677T基因多态性可能通过影响Hcy水平而影响GDM的发生、发展。     

MBL启动子区-221位点的多态性和血清MBL、白细胞介素17水平与儿童支气管炎伴喘息的相关性研究

目的探讨甘露糖结合凝集素(MBL)启动子区-221位点的多态性及血清MBL、白细胞介素(IL)-17在支气管炎伴喘息儿童诊断中的价值。方法将研究对象分为既往喘息1次(喘1组)、既往喘息2次(喘2组)和健康对照组,每组各30例,通过聚合酶链反应-限制性片段长度多态性技术检测MBL启动子区-221位点的多态性,同时用酶联免疫吸附试验测定血清MBL、IL-17水平。结果 MBL启动子区-221位点的CC基因型频率在健康对照组最高,喘2组最低,3组之间比较差异无统计学意义(P0.05);GG基因型频率在健康对照组中最低,喘1组、喘2组的频率相同,3组之间比较差异无统计学意义(P0.05)。血清MBL在健康对照组中最高,喘1组次之,喘2组最低,差异有统计学意义(P0.05);血清中IL-17在喘1组和喘2组水平高于健康对照组,血清IL-17在喘2组中高于喘1组,差异有统计学意义(P0.05)。结论 MBL启动子区-221位点的基因型频率多态性与儿童喘息无相关性;血清MBL、IL-17的检测在喘息儿童的诊断中具有一定的临床意义。     

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.     

Clinical Pharmacokinetics of Morphine

Morphine, the most widely used mu-opioid analgesic for acute and chronic pain, is the standard against which new analgesics are measured. A thorough understanding of the pharmacokinetics of morphine is required in order to safely and effectively use this analgesic in a wide variety of patients with different levels of organ function. A MEDLINE search was conducted to identify literature published between 1966 and January 2002 relevant to the pharmacokinetics of morphine. These publications were reviewed and the literature summarized regarding unique and clinically important elements of morphine disposition relative to its parenteral administration (including intravenous, intramuscular, subcutaneous, epidural and intrathecal administration), absorption profile (immediate release, controlled release, and sublingual/buccal, and rectal administration), distribution, and its metabolism/ excretion. Special populations, including infants, elderly, and those with renal/liver failure, have a unique morphine pharmacokinetic profile that must be taken into account in order to maximize analgesic efficacy and reduce the risk of adverse events.