家族性2型糖尿病162个家系调查研究

目的　建立可用于系统研究 2型糖尿病 (T2 DM )遗传和环境危险因素的高发家系人群 ,探索家族性 2型糖尿病的遗传方式。方法　已诊断有糖尿病家族史的糖尿病先证者 175个进行 3代家族史和血统成员的调查研究 ,全部非糖尿病患者采血做OGTT确认 ,排除 1型糖尿病、MODY型和线粒体遗传阳性家系 ,最终筛选出具有 2个或 2个以上 2型糖尿病患者的家系 162个 (共 898例 )。全部家系成员均检查血糖、血脂、胰岛素C肽释放试验。结果　有 2个T2 DM患者的家系 91个 ,占5 6 2 % ;有 3个T2 DM患者的家系 61个 ,占 3 7 7% ;2代均有T2 DM患者的家系有 15 1个 ;3代均有T2 DM患者的家系 11个。先证者一级亲属 3 69人 ,其中患 2型糖尿病病 2 61例 ,占一级亲属的 70 7% ;先证者的同胞 2 78例 (不包括先证者 )中 ,有 2型糖尿病患者 12 6例 ,占 45 3 % ,同胞患病率是其配偶的 6 1倍。在 162个家系中未观察到有统计学意义的母系效应 ,男女两性的患病率没有显著差异。结论　有家族史的 2型糖尿病患者有明显的家族聚集性 ,其发病与遗传密切相关 ;其遗传方式不完全支持多基本因遗传 ,似支持孟德尔常染色体显性遗传     

第三道关：混合型高血脂，如何“双保险”用药

当血脂超标达到一定程度时,只有通过药物的干预,才能实现有效降脂。而不同类型的高脂血症所使用的降脂药物也有所不同。高脂血症可分为高胆固醇血症、高甘油三酯血症、混合型高脂血症（胆固醇和甘油三酯均超标）和低高密度脂蛋白胆固醇血症四大类,其中混合型高脂血症的比例正逐年走高。对高胆固醇血症患者来说,可选用的降脂药较多,比如他汀类药物、烟酸类药物、胆酸螫合剂、胆固醇吸收抑制剂和植物类胆固醇抑制剂。     

疗养飞行人员高脂血症及伴发疾病调查

目的分析2008年9月～2009年9月来中心疗养的230名飞行人员高脂血症发病情况及相关特点。方法采用日立7080型全自动生化分析仪,于入院3d内晨起空腹抽血查血脂等,根据检测结果 ,进行统计分析。结果 230名飞行人员中,患高脂血症88人,患病率38.3%。各年龄组间比较,P0.01;各机种间比较,P0.05。88例高脂血症飞行人员中,单纯高三酰甘油血症38例,占43.2%;高脂血症伴高尿酸血症12例,占13.6%;单纯高胆固醇血症8例,占9.1%;高脂血症伴脂肪肝及高尿酸血症8例,占9.1%;高三酰甘油血症伴脂肪肝8例,占9.1%;高三酰甘油血症伴胆囊息肉者6例,占6.8%。结论飞行人员高脂血症不容忽视,应采取综合措施降低飞行人员高脂血症发病率。     

西安市体检人群高脂血症和高糖血症患病率的调查

目的 调查西安市体检人群高血脂、高血糖的患病率及特点.方法 调查对象为随机抽取1 200例在该院健康体检的人群,对其空腹静脉血的血脂、血糖结果进行统计.结果 调查人群中,高脂血症及高糖血症中至少患有1种疾病者426例,检出率为35.5%,其中高脂血症患病率为 32.25%,高糖血症患病率为7.25%,高脂血症伴高糖血症4.0%;高TG、低HDL-C血症与性别差异有统计学意义(P<0.01),高TC、高LDL-C血症及高糖血症与年龄差异有统计学意义(P<0.01).结论 西安市体检人群高脂血症及高血糖血症患病率较高.因此,在人们生活水平提高的同时应强化健康体检的意识.     

高脂血症和高脂蛋白血症

<正> 高脂血症(hyperlipidemia)是由于脂肪代谢或脂质运转代谢紊乱使血浆一种或多种脂质高于正常状态。脂质不溶或微溶于水,必须与血液中的蛋白质和其他类脂如磷脂结合以脂蛋白存在,才能在血液循环中运转。因此高脂血症是脂蛋白紊乱的标志,也是高脂蛋白血症(hyperlipoproteinemia)的反映。高脂血症可表现为高胆固醇血症、高三酰甘油血症或两者兼有。 一、病因和发病机制 血脂增高可反映高脂蛋     

精神分裂症三家系的研究

目的：探讨家族性精神分裂症的遗传方式，并对患者进行遗传咨询，为精神分裂症家系或患者的诊治提供依据。方法：通过调查得到三个精神分裂症的家系资料，对此三家系进行系谱分析及遗传咨询。结果：家系1，4代25位成员中，有8例患者；家系2，4代29位成员中，有8例患者；家系3，3代11位成员中有3例患者。患者在家系中的分布规律符合常染色体显性遗传的特点。患者后代发病为高风险：对家系中的未婚成员进行婚姻指导及婚前检查非常重要。结论：此三家系精神分裂症符合常染色体显性遗传方式。对患者进行遗传咨询，意义重大。     

家族性高胆固醇血症黄色瘤的家系遗传分析

目的:检测中国汉族家族性高胆固醇血症(familial hyper-cholesterolemia,FH)家系低密度脂蛋白受体(LDLR)基因突变,探讨FH发病的分子机制。方法:采用PCR扩增结合核苷酸序列分析检测1例临床诊断为FH纯合子患者及其家系成员LDLR基因启动子和全部18个外显子片段,结果与GenBank公布的该基因正常序列对比找出突变,同时检测载脂蛋白B100(apoB100)基因Q3500R突变,以排除家族性apoB100缺陷症。结果:该患者LDLR基因第12外显子的第1747位和1773位碱基发生替换,前者导致H583Y突变,而后者未发现氨基酸改变。同时未检测出患者及其核心家系成员apoB100Q3500R突变。结论:FH是一常染色体显性遗传性疾病,为基因突变导致LDLR缺陷所致的遗传性疾病。检测相关基因突变对临床干预和遗传指导有参考价值。     

变性高效液相色谱技术在家族性高胆固醇血症低密度脂蛋白受体基因突变检测中的应用

目的 以变性高效液相色谱(DHPLC)，分析检测家族性高胆固醇血症(FH)一汉族家系成员的低密度脂蛋白受体(LDLR)基因突变，以明确诊断。方法 收集临床诊断为家族性高胆固醇血症的汉族一个家系共37名成员，其中30人为一级和二级亲属，7名为亲属配偶作为对照，提取基因组DNA，聚合酶链反应(PCR)方法扩增LDLR基因包含启动子和全部基因编码区(1-18外显子)及临近的内含子序列共21个片段，琼脂糖凝胶电泳鉴定产物。采用DHPLC技术检测了LDLR基因，对洗脱曲线异常者进行核苷酸序列分析。结果 该家系中发现4处变异，其中1处经核苷酸序列测定明确了突变的性质为第3内含子的剪接突变，并在此家系5名成员中得到证实，而对照组中未检出。结论 成功地建立了以DHPLC筛查LDLR基因点突变的方法及技术参数，该方法简便，结果稳定，可作为大样本筛查突变位点的一种便捷可靠手段。     

高血压病线粒体DNA 8414位点C>T突变一例家系报告

目的探讨一例母系家族遗传性高血压家系发病特点,为探讨高血压病的遗传机制与防治对策提供一定的理论依据。方法以2015年6月在江苏省苏北人民医院心血管内科住院的1例高血压病患者为先证者,实地调查得到高血压病遗传家系,抽取家系成员外周静脉血,对序列3777~4679位置的线粒体DNA(mt DNA)进行直接基因测序,然后进行线粒体基因分析。结果该家系母系成员高血压病发病率高,发病年龄显著提前,所有母系成员的mt DNA发生了8414位C>T突变。结论高血压家族遗传与线粒体基因突变相关,具有家族聚集倾向。     

泸州地区22例RhD阴性供血者家系调查

为了了解RhD阴性供血者的家系中RhD阴性分布情况及传递方式。RhD抗原检测用玻片凝集法 ,确认及表现型用戴安娜卡式检测法。RhD阴性家系成员中RhD阴性率 30 .6 7% ;仅在同胞中检出RhD阴性的家系数为 5 0 % ;核心家系成员RhD阴性率 4 1 .2 8% ;非核心家系成员RhD阴性率 2 .4 %。RhD阴性的家系成员是极高分布人群 ;同胞中出现的频率高 ,核心家系是RhD阴性的聚集群体     

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.     

手转胎头术失败的原因与分娩结局临床分析

目的 探讨手转胎头术失败的原因与分娩结局.方法 选择2008年1月至2010年12月于我院住院分娩的持续性枕横位、枕后位产妇198例,根据行手转胎头术后结果分为成功组126例、失败组72例.比较两组分娩结局,对比分析失败原因.结果 失败组胎儿体质量≥3500 g的发生率[76.4％(55/72)]明显高于成功组[31.7％(40/126)],差异有统计学意义(x2=30.177,P=0.001)、失败组宫缩乏力发生率[58.3％(42/72)]高于成功组[38.1％ (48/126)],差异有统计学意义(x2=7.569,P=0.006)、失败组骨盆临界或轻度狭窄发生率[38.9％ (28/72)]高于成功组[23.8％(30/126)],差异有统计学意义(x2 =5.030,P=0.002)、失败组手转胎头时机不当(宫口开大＜6 cm、胎头位于坐骨棘上及宫口开大8～10 cm、胎头位于坐骨棘下≥2 cm)发生率[61.1％(44/72)]高于成功组[38.9％(49/126)],差异有统计学意义(x2=9.084,P=0.003).失败组母儿并发症(产后出血、产褥病率、胎儿窘迫、新生儿窒息)发生率高于成功组(x2 =9.586,P=0.002、x2=9.334,P=0.002、x2=5.910,P=0.015、x2=5.240,P=0.022)、失败组剖宫产发生率[72.2％(52/72)]明显高于成功组[34.1 ％(43/126),x2=26.641,P=0.001)].结论 手转胎头术能使难产变顺产,降低剖宫产率,减少母儿并发症,但须积极预防、处理导致手转胎头术失败的原因,对矫正失败后继续矫正及试产应慎重.