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.     

在膀胱肿瘤并发前列腺增生症患者中采用同次施行膀胱肿瘤切除术和保留尿道粘膜前列腺切除术探讨

目的 探讨膀胱肿瘤并前列腺增生症患者同期施行膀胱肿瘤切除术和保留尿道粘膜前列腺切除术的可行性.方法 对同期施行经尿道膀胱肿瘤切除术及保留尿道粘膜前列腺切除术的16例膀胱癌合并前列腺增生症患者的临床资料进行了回顾性分析.结果 该组患者均顺利康复,无明显合并症,术后复诊,随访时间2～4年,3例出现肿瘤复发.结论 同期施行膀胱肿瘤切除术和保留尿道粘膜前列腺切除术,安全、效果肯定,值得基层医院推广应用.     

33例肺上沟癌的临床特点及放疗疗效

目的　探讨肺上沟癌的临床特点及放疗疗效和不良反应。方法　回顾性分析 3 3例肺上沟癌住院病人的临床特征和常规放疗的疗效。结果　肺上沟癌占原发性支气管肺癌的 2 9% ,常见症状为 :患侧肩、背和上肢疼痛 ( 78 8% ) ,后 1,2 ,3肋骨或椎骨破坏( 5 7 6% ) ,Horner’s综合征 ( 3 6 7% ) ;少见的症状为 :咳嗽 ( 2 7% ) ,咯血 ( 9% ) ;中位生存期为 8 4月 ;1,3 ,5年生存率分别为 3 5 6% ,12 3 % ,4 6% ;放疗反应可耐受。结论　肺上沟癌相当少见 ,其临床特征基本符合pancoast综合症 ,本病预后差 ,但放疗可缓解疼痛 ,提高生存质量。     

Soluble triggering receptor expressed on myeloid cells-1 in acute respiratory infections.

Levels of the soluble form of the triggering receptor expressed on myeloid cells (sTREM)-1 are elevated in severe sepsis. However, it is not known whether sTREM-1 measurements can distinguish milder bacterial infections from noninfectious inflammation. The present authors studied whether serum sTREM-1 levels differ in community-acquired pneumonia, exacerbations of chronic obstructive pulmonary disease (COPD), asthma and controls, and whether sTREM-1 may be used as a surrogate marker for the need for antibiotics. Serum sTREM-1 levels in 150 patients with pneumonia, COPD and asthma exacerbations and 62 healthy controls were measured. Serum sTREM-1 levels were significantly elevated in pneumonia (median 295.2 ng x mL(-1)), COPD (280.3 ng x mL(-1)) and asthma exacerbations (184.0 ng x mL(-1)) compared with controls (83.1 ng x mL(-1)). Levels were higher in pneumonia and Anthonisen type 1 COPD exacerbations than in type 2 and 3 COPD and asthma exacerbations. The area under the receiver operating characteristics curve for sTREM-1 as a surrogate marker for the need for antibiotics was 0.77. Serum levels of the soluble form of the triggering receptor expressed on myeloid cells-1 were elevated predominantly in pneumonia and Anthonisen type 1 COPD exacerbations versus type 2 and 3 chronic obstructive pulmonary disease exacerbations, asthma and controls. Serum levels of the soluble form of the triggering receptor expressed on myeloid cells-1 has moderate but insufficient accuracy as a surrogate marker for the need for antibiotics in lower respiratory tract infections.     

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。     

益气补血活血法治疗阳痿病57例临床观察

目的:观察中医益气补血活血法治疗阳痿病的临床疗效。方法:将符合诊断的114例阳痿病患者随机分为治疗组和对照组各57例,患者入院后分别进行阴茎硬度测试和FSH(促滤泡激素)、HCG(人绒毛膜促性腺激素)、PRL(泌乳素)测定。对照组予温肾壮阳中药加常规西药治疗;治疗组予自拟益气补血活血法方药加减治疗,并辅以精神疏导。对两组病例的疗效进行总结和随访。结果:114例病例全部得到随访,治疗组治愈率63.12%,总有效率91.23%;对照组分别为50.87%;68.41%。两组比较,治疗组优于对照组(P<0.05)。结论:采用中医益气补血活血法治疗阳痿病疗效显著,尤对血管性阳痿病显效。     

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。     

重视老年高血压病人的非药物治疗

针对老年高血压病人的治疗，要积极采取药物和非药物治疗措施，既要保持血压稳定在正常或接近正常水平，又要最大限度地降低心脑血管病的并发率、病残率和死亡率。在临床工作中，除采取必要的药物控制血压外，帮助老年高血压患者安排好日常生活，树立正确地防治观念，养成按时作息和定时排便的习惯；合理的饮食，限制食盐量，戒烟戒酒，控制热量摄入；以及根据老年高血压病人的身体情况，选择有规律的适当运动，坚持循序渐进的锻炼：同时，要保持乐观开朗的心怀和积极健康的心态，生活要安排张弛有度，又多姿多彩，努力营造一个感情融洽，和睦相处的温馨美好的家庭环境。这些非药物治疗措施，都能取得了令人满意的效果，是治疗老年高血压病的最佳保健良方。