Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.

Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, HSD11B2, cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). In AME, defective HSD11B2 enzyme activity results in overstimulation of the mineralocorticoid receptor (MR) by cortisol, causing sodium retention, hypokalemia, and salt-dependent hypertension. Here, we have studied whether genetic variations in HDS11B2 are implicated in essential hypertension in Japanese hypertensives and the general population. By sequencing the entire coding region and the promoter region of HDS11B2 in 953 Japanese hypertensives, we identified five missense mutations in 11 patients (L14F, n = 5; R74H, n = 1; R147H, n = 3; T156I, n = 1; R335H, n = 1) and one novel frameshift mutation (4884Gdel, n = 1) in a heterozygous state, in addition to 19 genetic variations. All genetic variations identified were rare, with minor allele frequencies less than 0.005. Four of 12 patients with the missense/frameshift mutations showed renal failure. Four missense mutations, L14F, R74H, R147H, and R335H, were successfully genotyped in the general population, with a sample size of 3,655 individuals (2,175 normotensives and 1,480 hypertensives). Mutations L14F, R74H, R147H, and R335H were identified in hypertensives (n = 6, 8, 3, and 0, respectively) and normotensives (n = 8, 12, 5, and 0, respectively) with a similar frequency, suggesting that these missense mutations may not strongly affect the etiology of essential hypertension. Since the allele frequency of all of the genetic variations identified in this study was rare, an association study was not conducted. Taken together, our results indicate that missense mutations in HSD11B2 do not substantially contribute to essential hypertension in Japanese.     

胰岛素使用方法的研究进展

胰岛素治疗是糖尿病治疗的重要内容,也是使糖尿病患者血糖达标的有效方法。严格的血糖控制对糖尿病慢性并发症的预防和延缓发生有重要意义,然而目前各国的糖尿病血糖控制达标率均不足50%。患者甚至包括医生对低血糖的恐惧是启动胰岛素治疗和达到最佳胰岛素治疗的主要障碍之一。     

人胚雪旺细胞组织工程神经修复坐骨神经缺损的实验研究

目的：探索人胚雪旺细胞作为组织工程的种子细胞修复周围神经缺损的可行性。方法：通过组织工程方法用PLGA导管和polyglactin 910纤维负载人胚雪旺细胞预先构置好人工神经，然后用于修复大鼠20mm的坐骨神经缺损，并与神经切断后原位缝合以及用单纯的PLGA导管进行修复的实验组进行对照。通过活体肢体功能观察、靶器官肌肉测量、电生理检测、辣根过氧化物酶示踪、连续组织切片图像分析以及透射电镜等检查神经再生情况。结果：人工神经修复组神经再生良好，效果接近于神经原位缝合组，明显优于单纯的PLGA导管修复组。结论：人胚雪旺细胞构建的人工神经可以修复20mm的周围神经缺损。     

螺旋CT的预防性维修

尽早发现故障苗头,并将故障消灭于萌芽状态,是预防性维修的目的,是维修工作的最高境界,具体工作包括定期保养,定期检查,随即处置隐患,根据从业多年经验小结了一些针对螺旋CT的预防性维修感受。     

Ex Vivo Application of Carbon Monoxide in University of Wisconsin Solution to Prevent Intestinal Cold Ischemia/Reperfusion Injury

Carbon monoxide (CO), a byproduct of heme catalysis, was shown to have potent cytoprotective and anti-inflammatory effects. In vivo recipient CO inhalation at low concentrations prevented ischemia/reperfusion (I/R) injury associated with small intestinal transplantation (SITx). This study examined whether ex vivo delivery of CO in University of Wisconsin (UW) solution could ameliorate intestinal I/R injury. Orthotopic syngenic SITx was performed in Lewis rats after 6 h cold preservation in control UW or UW that was bubbled with CO gas (0.1-5%) (CO-UW). Recipient survival with intestinal grafts preserved in 5%, but not 0.1%, CO-UW improved to 86.7% (13/15) from 53% (9/17) with control UW. At 3 h after SITx, grafts stored in 5% CO-UW showed improved intestinal barrier function, less mucosal denudation and reduced inflammatory mediator upregulation compared to those in control UW. Preservation in CO-UW associated with reduced vascular resistance (end preservation), increased graft cyclic guanosine monophosphate levels (1 h), and improved graft blood flow (1 h). Protective effects of CO-UW were reversed by ODQ, an inhibitor of soluble guanylyl cyclase. In vitro culture experiment also showed better preservation of vascular endothelial cells with CO-UW. The study suggests that ex vivo CO delivery into UW solution would be a simple and innovative therapeutic strategy to prevent transplant-induced I/R injury.     

癫(癎)患者先兆症状的研究

目的 探讨癫(癎)患者先兆症状的发生比例、临床表现,为正确诊断治疗癫(癎)提供依据.方法 回顾性研究1028例癫(癎)患者的临床资料,分析癫(癎)患者的先兆发生率、临床表现、脑电图和神经影像学结果.比较伴或不伴先兆的部分性发作癫(癎)患者的发病年龄、性别、脑电图、神经影像学的差异以及腹部先兆在颞叶内外侧癫(癎)出现比例的差异.结果 部分性癫(癎)725例,484例(66.8 % )出现先兆;全面性发作者303例,无一例患者出现先兆.64例患者出现2种或2种以上的先兆表现;14例出现持续性先兆的癫(癎)患者.1028例患者中脑电图异常547例(53.2 % ),影像学异常217例(21.1 % ).484例有先兆症状的患者中286例脑电图异常(59.1 % ),126例(26.0 % )影像学异常.伴或不伴先兆的部分性发作癫(癎)患者的首次发病年龄差异无统计学意义,腹部先兆在颞叶内外侧癫(癎)出现的比例差异有统计学意义(x2=170.877,P<0.01).结论 癫(癎)患者先兆症状多样,分析先兆症状对于癫(癎)分型、病灶定位以及合理治疗有指导意义.     

预防精神病人自杀的护理干预

有资料显示,精神病人的自杀死亡率达6.0%[1],有的报道达22.7%[2].精神病病人自杀给家庭、社会带来的诸多问题,以成为精神科临床工作关注的重点.我院2001年-2004年对59例因自杀而入院的精神病病人进行护理干预,取得了满意的效果.现介绍如下.     

超顺磁氧化铁标记骨髓基质干细胞移植治疗帕金森病鼠的实验研究

目的:研究应用超顺磁氧化铁(SPIO)标记骨髓基质干细胞(MSCs)移植治疗帕金森病(PD)大鼠后的在体MRI观察。方法:分离、获取大鼠骨髓基质细胞,脂质体转染法将SPIO标记MSCs;制作PD模型,SPIO标记的MSCs移植到PD大鼠右侧纹状体区,应用MRI在体观察脑内移植的骨髓基质细胞的存活和迁徙情况。结果:体外SPIO标记的骨髓基质细胞普鲁蓝染色阳性;脑内移植SPIO标记MSCs的PD大鼠磁共振T2和T2GRE扫描检查显示在移植区呈低信号改变。随时间的延长,移植区信号向周围扩大。脑纹状体区的铁染色也可见SPIO标记MSCs从移植部位向四周迁移。结论:SPIO可用于体外标记MSCs,通过MRI技术可以对标记细胞脑内移植后进行初步的活体示踪,有利于MSCs移植治疗PD后的疗效观察。     

Structural shielding design for a gamma ray stereotactic body radiotherapy system.

An OUR-QGD gamma ray stereotactic body radiotherapy system (body knife), made in China, is described. According to its structure and the principle of gamma radiation revolved on a focus, the energy distribution of scattered radiation in its treatment room is calculated. The structural shielding of the wall, roof, and door for a certain treatment room is calculated according to the local radiation protection law.     

妊娠期糖尿病62例临床分析

目的 探讨妊娠期糖尿病的合理处理及预后.方法 选择62例妊娠期糖尿病患者进行回顾性分析.结果 妊娠期糖尿病62例,其中单纯饮食控制17例,饮食控制 胰岛素治疗43例,2例未治疗.剖宫产42例,阴道产20例.合并妊高症3例,羊水过多2例,羊水过少4例,羊水栓塞1例,早产5例,高胆红素血症3例,真性红细胞增多症2例,死胎2例,新生儿窒息4例,新生儿畸形1例.结论 对妊娠合并糖尿病的孕妇进行早期的诊断及治疗,选择合适的时间及方式终止妊娠可以减少母儿并发症的发生率.