Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population

Epidermolysis bullosa (EB) is a heritable blistering disorder. We performed a next-generation sequencing-based multigene panel test and successfully predicted 100% of the EB types, including, 36 EB simplex (EBS), 13 junctional EB (JEB), 86 dystrophic EB (DEB), and 3 Kindler EB. Chinese JEB and recessive DEB (RDEB) patients have relatively mild phenotypes; for severe type separately accounts for 45.5% and 23.8%, respectively. We identified 96 novel and 49 recurrent pathogenic variants in 11 genes, although we failed to detect the second mutation in one JEB and five RDEB patients. We identified one novel p.E475K mosaic mutation in the clinically normal mother of one out of 13 EBS patients with KRT5 mutations, one recurrent p.G2034R mosaic mutation, and one novel p.G2043R mosaic mutation in the clinically normal relatives of two out of 19 dominant DEB patients. This study shows that next-generation technology could be an effective tool in diagnosing EB.     

老年人支气管异物延误诊治原因

目的探讨老年人支气管异物延误诊治的原因。方法对28例误诊的老年人支气管异物临床表现及误诊情况进行分析。结果老年人支气管异物病史诉说不清,临床缺乏特异性,医生重视不够,容易误诊为呼吸系统疾病。结论老年患者疑为支气管异物者,应详细询问病史,抗感染治疗无效时,应及时行纤维支气管镜检查。     

hs-CRP、TAS联合血脂检测在早老性痴呆症诊断中的应用研究

[目的]研究超敏C反应蛋白（hs-CRP）、总抗氧化状态（TAS）联合血脂检测在早老性痴呆症诊断中的应用价值：[方法]选择浦东新区精神卫生中心早老性痴呆专科门诊患者54例，作超敏C反应蛋白、总抗氧化状态与血脂检测。[结果]与对照组比较，实验组hs-CRP、TAS差异非常显著，t1=4．55，t2=2．79，P1〈0．001，P2〈0．01；血脂中甘油三酯、低密度脂蛋白胆固醇、载脂蛋白B、Lp（a）差异显著；t1=3.01，P1〈0．01，t2=2．21，P2〈0．05，t3=2．64，P3〈0．01，t4=1．91，P4〈0．05。[结论]超敏C反应蛋白、总抗氧化状态联合血脂（甘油三酯、低密度脂蛋白胆固醇、载脂蛋白B、Lp（a））检测对实验室诊断早老性痴呆症具有较好敏感性和特异性，临床应用前景乐观。     

城市血吸虫病综合防治措施的研究

目的探索快速控制城市血吸虫病流行的综合措施。方法在城市血吸虫病流行区选择3个试点现场,南津港、太平桥2个点采取以化疗为主的综合防治措施,小柳叶洲点采取以环境改造灭螺为主的综合防治措施。结果南津港点3年居民血吸虫感染率分别为2.80%、2.60%和2.24%,并发生急性血吸虫病2例;感染螺平均密度分别为0.0009、0.0027、0.0020只/0.1m2。小柳叶洲点3年无居民粪检阳性者,无急性血吸虫病例,哨鼠感染率为0,没有查到感染性钉螺。太平桥点3年居民感染率分别为1.18%、0.20%和0.26%,无急性血吸虫病例,家畜感染率分别为6.35%、3.57%和3.85%,2004年发现感染性钉螺,平均密度为0.0001只/0.1m2。结论在城市血吸虫病流行区,采取以环境改造灭螺为主、人群化疗、健康教育、药物灭螺灭蚴的综合防治措施能快速控制疫情。采取以化疗为主的综合防治措施,难以有效控制疫情。     

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.     

Differential changes of retina dopamine binding sites and adenylyl cyclase responses following 6-hydroxydopamine treatment.

Both dopamine D1 and D2 receptors are present in rat retina. D1 receptors are positively coupled to adenylyl cyclase, while D2 receptors are negatively coupled. After intraocular administration of the neurotoxin 6-hydroxydopamine (6-OHDA) there is depletion of retinal dopamine by about 90%, as well as a decrease of the number of D1 and D2 receptor binding sites. Following the 6-OHDA lesion, there is an enhancement of the D1 receptor-stimulated accumulation of cyclic-AMP and a loss of D2 receptor-inhibited accumulation of cyclic-AMP. Our results suggest that some of the retinal D2 receptors are coupled to adenylyl cyclase and some are not.     

慢性疼痛与情绪障碍及其干预治疗效应

目的:分析慢性疼痛与情绪障碍之间的关系,探讨心理及药物治疗对慢性疼痛的干预作用。资料来源:应用计算机检索Medline1989-01/2004-05和Embase1989-01/2004-05有关慢性疼痛与情绪障碍关系的文献,检索词“Chronicache,emotionaldisorder,treament”,并限定文章语言种类为English。观察对象为疼痛持续时间超过6个月以上的患者。资料选择:选取有关慢性疼痛与情绪障碍关系及其治疗干预的文献,进行初审,删除陈旧及重复的文献,然后查找余下的文献全文。质量评价主要考察资料的真实性,调查设计是否严密,实施过程是否严格,统计学处理是否合理。资料提炼:共检索到20篇关于慢性疼痛与情绪障碍关系及其治疗干预的文献,11篇文献符合纳入标准。排除的9篇试验中,7篇系重复的同一研究,2篇是Meta分析。资料综合:11篇文献均包括观察组和对照组,其中观察组应用镇痛药合并心理治疗及抗抑郁药,对照组应用镇痛药但未合并心理治疗及抗抑郁药,对两组患者的疗效进行比较分析。结论:慢性疼痛与情绪障碍同时存在,应用镇痛药合并心理治疗及抗抑郁药可以显著缓解患者的疼痛,干预效果优于单纯应用镇痛药者。     

心血管疾病并发焦虑抑郁症状2050例心理干预治疗分析

目的:了解心血管疾病并发焦虑抑郁症状的情况并探讨心理干预等对焦虑抑郁症状的影响。方法:对住院的2050例心血管疾病并发焦虑抑郁症状的患者进行回顾性分析。结果:心血管疾病患者中并发有焦虑抑郁症状者占56%;其常表现为类似心绞痛、左心衰竭症状,可并发有心律失常;高血压病并发有焦虑抑郁患者对血压升高的耐受性差,动态血压检查以非勺型改变者居多;单纯使用心血管药物治疗效果欠佳,心理干预,焦虑抑郁症状严重者结合抗焦虑抑郁药物疗效显著。结论:心血管疾病患者常并发焦虑抑郁症状,心理干预治疗等可有效改善患者的症状。     

对诊断PADAM的游离睾酮指数的评估

目的 评价诊断中老年男子部分雄激素缺乏综合征（PADAM）的游离睾酮指数（FTI）.方法 对129例45岁以上健康男性的FTI进行年龄相关分析.以推算的游离睾酮（CFT）值为依据,对FTI进行有效性检验.结果 男子在中老年期FTI与增龄呈明显的负相关.FTI敏感性97.78%,特异性58.33%.结论 计算简单的FTI可用于PADAM病人的筛选和随访,尤其对70岁以上男子是血清FT较为有效的参数.