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.     

Comparison of anatomical and visual outcomes following different anti-vascular endothelial growth factor treatments in subretinal neovascular membrane secondary to type 2 proliferative macular telangiectasia

Graefe's Archive for Clinical and Experimental Ophthalmology - To evaluate central macular thickness (CMT), subfoveal choroidal thickness (SFCT), and visual outcomes following different...     

彩色多普勒血流显像(CDFI)评价胎儿生长发育状况

目的阐明CDFI对评价胎儿宫内状况的可行性。方法200例经普通B超检查的胎儿,按测量各项常规指标的数值分为正常组100例和异常组100例,再分析经CDFI检查,所测定的指标包括胎儿大脑中动脉、肾动脉、胎盘床动脉、脐动脉血流搏动指数(PI)、阻力指数(RI)及脐动脉的收缩与舒张期峰值速率之比(S/D)。对其结果做详细记录,并进行统计学分析。结果正常组100例,经CDFI检查亦正常;胎儿出生时体重在2500g以上,新生儿发育正常。另100例异常组经CDFI检查各项指标中,54例正常,46例异常;胎儿出生时体重均小于2500g,其中54例新生儿虽体重较正常儿偏小,但发育正常;另46例胎儿宫内窘迫,导致导常分娩、新生儿生存率低。结论彩色多普勒血流显像对了解胎儿宫内情况有着重要的作用,是产科检查监护中不可缺少的部分。     

2005年样本医院使用主要抗肿瘤药之分析

据悉,国家发改委已经将《药品定价方法》意见征求稿(初稿)下发各制药行业协会,这是发改委在行政干预药品价格历程中第一个比较全面的政府药价管理指导性文件。纳入政府定价范围的2400个药品品种的定价将遵循这一原则。又有报道,新的药品降价政策将于2006年上半年出台。这次降价     

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。     

5173例儿童静脉滴注抗感染药物现状调查及护理对策

目的了解儿科门诊静脉滴注抗感染药物的应用情况,探讨护理对策。方法回顾性调查2004年10月~2005年4月儿科门诊静脉滴注的所有患儿,对其使用抗感染药物的情况进行整理分析。结果2~7岁是使用抗感染药物的高峰年龄组,抗感染药物应用占同期输液患儿的98·2%,抗感染药物使用频率高低顺位依次是:第三代头孢类、抗病毒类、青霉素类、第一代头孢、中药、第二代头孢和氨基甙类。抗菌药物与抗病毒药物同用占56·14%,抗菌药物二联用药占9·51%,抗菌药物三联用药占0·19%。结论加强护理管理,是促进抗感染药物合理应用的有效途径,包括正确给药、细致观察、合理用药、健康教育。     

The effect of ethanol intake on tendon healing: a histological and biomechanical study in a rat model

Introduction  

Ethanol has a suppressive effect on inflammation and the immune system, but the effect of ethanol on tendon healing in vivo has not been studied. The purpose of this study was to investigate the histological and biomechanical effects of ethanol intake on tendon healing in a rat tendon injury model.     

Some new clinical applications of rhinomanometry

Clinical applications of active anterior rhinomanometry of the oscillation type had been carried out for the purposes other than the conventional uses of rhinomanometry. 1. Effect of acupuncture upon the nasal resistance to airflow: Among 8 acupuncture points which were recorded in Chinese traditional medical literatures as effective for improving nasal breathing, Ingxiang point had been proved to possess definite effect of lowering the nasal resistance to air-flow in patients with congestion of nasal mucosa, whereas in other acupuncture points this effect was not certain. 2. The severity of snoring before and after treatment could be determined objectively by the measurement of nasal resistance to air-flow and the breathing pattern of the patient.