靶向测序诊断黑棘皮病1家系

【摘要】 报道临床症状不典型的家族性黑棘皮病1家系。先证者女，4岁，自1周岁时，颈部、腹部出现黑色斑片，近年来逐渐扩大至唇周、躯干前部。腹部皮肤全反式共聚焦显微镜检查可见乳头环下延扭曲及沟壑结构，乳头环内可见中高折光颗粒结构。先证者父亲及祖母既往有类似病史，但随着年龄增长色素沉着自发性消退，仅有局部皮纹增粗。采集先证者及父母、祖母外周血，对先证者外周血DNA行Panel靶向测序，结果显示，先证者存在FGFR3基因14号外显子c.1949A>C（p.Lys650Thr）错义突变，Sanger测序验证证实先证者及其父亲和祖母均存在此突变。诊断：家族性黑棘皮病。     

Hypocholesterolaemic mechanism of bitter melon aqueous extracts via inhibition of pancreatic cholesterol esterase and reduction of cholesterol micellar solubility

This study investigated the hypocholesterolaemic effects of bitter melon aqueous extracts (BMAE) in vitro, the inhibitory effects of BMAE on pancreatic cholesterol esterase (CEase) and incorporation of cholesterol into micelles were investigated. BMAE decreased the in vitro micellar solubility of cholesterol in a dose-dependent manner. The conformation of CEase was investigated by means of circular dichroism (CD) and fluorescence. The result revealed the decrease of α-helix contents, increase of β-sheet and exposure of aromatic amino acid residuals. The incorporation of cholesterol into micelles was inhibited by BMAE. A complex was observed by transmission electron microscopy (TEM), which indicated interaction between cholesterol and BMAE. The result revealed that BMAE can play a role in decreased intestinal cholesterol absorption via inhibition of CEase, and of micelle formation.     

Association Study of Matrix Metalloproteinases Gene Polymorphisms with Susceptibility to Rheumatoid Arthritis: A Meta-Analysis

Objective: Association of matrix metalloproteinases (MMPs) gene polymorphisms with rheumatoid arthritis is controversial. We conduct a meta-analysis to clarify this dispute.

Methods: We systematically searched the electronic PUBMED, EMBASE and CNKI databases for research articles about MMPs (MMP-1, MMP-2, MMP-3, MMP-9) gene polymorphisms and rheumatoid arthritis (RA) up to January 2015. According to the heterogeneity, fixed-effects or random-effects models were used to calculate crude odds ratios (ORs) and 95% confidence intervals (95% CIs).

Results: A total of 11 articles involving 2143 cases and 2049 controls were included in this meta-analysis. Overall, no significant associations were observed between MMP-1-1607 1G/2G polymorphism and RA. Stratification by ethnicity, no significant associations were observed in Caucasian populations. Similarly, no significant associations were observed between MMP-3-1171 5A/6A, MMP-9-1562 C/T polymorphisms and RA in overall and Caucasian populations, respectively. However, a weak association was found between MMP-2-1306 C/T polymorphism and RA (C vs. T, OR?=?0.813, 95%CI?=?0.694–0.953, p?=?0.010) in overall populations.

Conclusions: The present meta-analysis suggests that MMP-1-1607 1G/2G, MMP-3-1171 5A/6A, MMP-9-1562 C/T polymorphisms are not associated with the susceptibility of RA, but MMP-2 -1306 C/T is weakly associated with susceptibility to RA. Further studies with more sample size are needed for definitive conclusions.     

中医药治疗糖尿病周围神经病变的研究进展

糖尿病渐以年轻化的趋势呈现,糖尿病周围神经病变(DPN)是糖尿病最常见的慢性并发症之一,因其高致残率严重影响病患的生活品质。本文简单阐述糖尿病周围神经病变的病因,并就中医药的角度对该病的治疗概况进行综述,以期为临床诊治提供新见解和新研究策略。     

电针对缺血性脑卒中大鼠记忆功能及脑内突触囊泡蛋白的影响

观察电针对缺血性脑卒中大鼠记忆功能及脑内突触囊泡蛋白（synaptic vesicular protein，SYN）的影响，探讨其可能的作用机制。方法 选取90 只SD大鼠随机分为模型组、电针组、假手术组，每组各30只。线拴法制作急性大脑中动脉缺血大鼠模型。电针组取“百会”“水沟”“内关”“三阴交”穴位，应用“醒脑开窍”法进行电针，每天电针30 min，连续电针6 d休1 d，7 d为一个疗程，首次电针干预在造模成功24 h后进行。模型组和假手术组不进行电针干预。大鼠分别按7、14、21 d 3个亚组进行运动及记忆功能评分，TTC染色测定脑梗死体积、Western blot检测脑内SYN的蛋白表达。结果 电针组运动功能评分较模型组显著降低（P<0.01），电针组进入隐藏区潜伏期时间较模型组显著缩短（P<0.01），电针组脑梗死率较模型组显著缩小（P<0.01），SYN的蛋白表达电针组较模型组明显增强（P<0.01）。假手术组无神经功能缺损及脑梗死灶，SYN表达最弱。结论 电针干预能减小脑梗死体积，上调脑内SYN的表达，进而促进缺血性脑卒中大鼠的记忆及运动等神经功能的恢复。     

Effects of synthetic and biological disease modifying antirheumatic drugs on lipid and lipoprotein parameters in patients with rheumatoid arthritis

BackgroundDyslipidemia in rheumatoid arthritis (RA) patients is frequently observed, and treatment with anti-rheumatic drugs has an impact on lipid profiles. Pathophysiologically, inflammation leads to decreased blood lipids and lipoproteins; RA treatment reduces inflammation and therefore may increase lipids and lipoproteins. Whether the lipid changes with RA treatment confer an increased risk of cardiovascular disease or just reflect their potentially atheroprotective anti-inflammatory effect is currently unclear due to limited and conflicting data.ObjectiveThe aim of this review is to summarize the current knowledge on the effects of synthetic and biological disease modifying antirheumatic drugs for the treatment of RA on lipid and lipoprotein parameters.ResultsRecent studies on methotrexate emphasize its anti-atherogenic effect. Golimumab combined with methotrexate revealed a trend towards an anti-atherogenic potential. The known pro-atherogenic lipid-spectrum alterations caused by tofacitinib can be effectively treated with atorvastatin. Tocilizumab signals a favorable impact on the extent of lipid modifications when combined with methotrexate. Abatacept indicated a trend towards an anti-atherogenic lipid profile demonstrated by favorable effects on HDL-C and on the TC/HDL-C ratio. Rituximab has beneficial effects on HDL-C and ApoA1, as well as on the ApoB/ApoA1 ratio.Clinical implicationsAnti-rheumatic drugs have various effects on lipid parameters, which in part appear pro-atherogenic. However, because many of these lipid changes may well reflect their potentially atheroprotective anti-inflammatory action the cardiovascular impact of these changes remains unclear. Whatsoever, cardiovascular safety trials for antirheumatic drugs would be valuable.     

鼻内窥镜下鼻腔泪囊造孔术治疗慢性泪囊炎的临床观察

目的：观察鼻腔内窥镜下行鼻腔泪囊造孔术治疗慢性泪囊炎的临床疗效。方法回顾性分析2013年6月至2015年6月在我院收治的慢性泪囊炎患者39例（40只眼），采用鼻腔内窥镜下鼻腔泪囊造孔术进行手术治疗，术后随访3～6个月，观察术眼流脓、溢泪等情况。结果鼻内窥镜下鼻腔泪囊造孔术治疗39例（40只眼）患者，治愈35例（36只眼），好转3例（3只眼），无效1例（1只眼）。治愈率90％，好转率7．5％，无效率2．5％。结论经鼻内窥镜下行鼻腔泪囊造孔术治疗慢性泪囊炎，疗效确切。具有手术简单、创伤小、出血少、无需面部切口、面部不留疤痕等优点。     

新型四腔水箱在腹外科腔镜电凝线清洗消毒中的应用研究

摘要〓目的〓研究四腔水箱在腹外科腔镜电凝线擦拭法清洗消毒中的应用效果。方法〓通过目测法和ATP生物荧光法,对本研究的四腔水箱用于腹外科腔镜电凝线的清洗效果进行评价。结果〓传统治疗碗清洗的206件腔镜电凝线清洗质量合格率为86.4%,四腔水箱清洗的206件腹腔镜电凝线清洗质量合格率为94.6%,差异有统计学意义（P＜0.01）。用四腔水箱清洗腔镜电凝线擦拭过程中的护理人员满意度较高。结论〓四腔水箱可提高腹外科腔镜电凝线清洗质量和护理人员满意度。