原发性胆汁性胆管炎易感基因多态性的研究现状

原发性胆汁性胆管炎(PBC)是一种慢性进行性肝内胆汁淤积的自身免疫性疾病,临床特点以大量抗线粒体抗体(AMA)的产生和胆管上皮细胞的损伤为特征。PBC的病因和发病机制尚未完全明确,可能与遗传和环境等相互作用所导致的异常自身免疫反应有关。PBC的家族聚集性、女性患病率明显高于男性以及同卵双胞胎患病的高度一致性,均提示了遗传易感性在PBC的发生和发展中起着重要的作用。全基因组关联分析(GWAS)以及病例对照研究已经鉴定出与PBC相关的各种人类白细胞抗原(HLA)和非HLA等位基因,并证实了PBC的种族差异性。本文综述了可能与PBC相关的易感基因多态性的研究现状。     

膝骨关节炎中医治疗研究进展

膝骨关节炎(knee osteoarthritis,OA),又称为膝关节退行性骨性关节病、增生性关节炎,是临床常见的一种慢性、进展性关节疾病,以关节软骨变性和丢失以及关节边缘及软骨下骨质再生为主要特征,该病的始发部位在软骨,好发于40岁以上的中老年人,55～64岁的人群中发病率达40%。据报道,我国50岁以上人口骨关节炎的发病率为5%,60岁以上人口的发病率为20%,其中膝骨关节炎发病率为78.5%。临床可表现为慢性进行性发展的膝关节肿痛、僵硬、活动受限,可伴有继发性滑膜炎等,严重危害中老年人的健康。中医治疗OA疗效确切,不良反应少。笔者将近几年临床上中医有关膝骨关节炎的治疗概况作一综述,供同道参考。     

膝骨关节炎射频治疗进展

正膝骨关节炎(Knee Osteoarthritis,KOA),亦称增生性、肥大性或退行性膝骨关节炎。其基本病变是进行性的软骨磨损和关节边缘及软骨下骨的退行性改变。临床表现为膝关节的疼痛及僵硬感,同时伴有摩擦音、关节胶着感、活动受限和关节畸形等[1]。该病发病率高,据欧阳八四等[2]统计,KOA约占各类关节炎的40%,65岁以上老年人的发病率更是接近80%。随着社会老龄化的加剧,该病的发病率逐年上     

中医治疗膝骨关节炎研究进展

膝骨关节炎亦称膝关节退行性关节炎,是多发于中老年的慢性、进行性疾病,是中老年人临床常见病之一,以关节软骨退行性改变为核心,累及骨质、滑膜、关节囊及关节其他结构的慢性无菌性炎症,以局限性、退行性关节软骨破坏及关节边缘的骨赘形成为其主要病理形态学的改变。     

膝骨关节炎的非手术治疗

膝骨关节炎是一种常见、缓慢发展的关节疾病。从国内现有资料看，非手术疗法中，迄今为止还缺乏一种特效、能够治愈膝关节骨关节炎的治疗方法。     

急性心肌梗死易感基因多态性研究现状

急性心肌梗死（AMI）是一种多基因与环境相互作用而产生的疾病,目前是人类最主要的死亡原因之一^[1]。因此,针对AMI病因的研究始终没有中断过。除了传统的危险因素（包括高血压、高血脂、糖尿病、吸烟等）之外,家族史被认为是一个独立的危险因素。随着近年来人类基因组学和分子生物学技术的发展,各国科学家在大规模病例对照研究中对AMI的易感基因及其多态性进行了深入的调查研究,确定了一系列的AMI易感基因及相关单核苷酸多态性（SNP）位点。候选易感基因主要集中在以下4个方面^[2-4]：（1）肾素-血管紧张素系统;     

膝骨关节炎生物力学参数的研究进展

膝骨关节炎是老年人常见的慢性退行性疾病,其发生与发展与生物力学因素密切相关。膝关节受力受到关节形态、下肢力线、肌肉的主动收缩、外部负荷、软组织牵拉等不同因素的影响。由于体内测量限制,基于运动分析技术的生物力学参数被广泛应用于临床研究。目前应用较多的生物力学参数包括膝关节内收力矩、膝关节内收冲量、膝关节屈曲力矩、内翻延伸等。充分研究膝骨关节炎发生发展过程中膝关节生物力学参数的变化,对疾病的病因探究、诊断、干预及治疗均有重要意义。     

辨证选用隔物灸治疗膝原发性骨关节炎的临床研究

目的:对辨证施用隔物灸治疗膝原发性骨关节炎(KOA)临床疗效进行评估。方法:采用单盲法将膝原发性骨关节炎患者分为2组各60例。治疗组根据中医证候诊断标准分为风寒型、血瘀型、肾虚型分别采用隔姜灸、隔三七饼灸、隔附子饼灸,对照组采用双氯芬酸钠口服治疗,分别对治疗前后膝关节功能参数进行评定。结果:2组在改善KOA症状、体征分级量化评分积分方面均有明显的疗效,但治疗组明显优于对照组(P<0.05)。结论:辨证施用不同隔物灸治疗KOA能缓解疼痛、显著改善其功能活动,是一种有效疗法。     

XIAP-3′UTR 区域 rs8371位点基因多态性与急性胰腺炎的关联研究

目的：为探讨人染色体 XIAP 基因3′非翻译区（3′UTR）rs8371位点多态性与中国汉族人群急性胰腺炎遗传易感性之间的相关性。方法本文采用病例对照研究,对320例急性胰腺炎患者和320例性别、年龄、籍贯频数与之相匹配的健康对照者采用连接酶检测反应法（LDR）对 rs8371位点进行基因分型,并统计分析其基因频率分布与急性胰腺炎易感性的关系。结果发现等位基因比如下：病例组 C/T＝1．53,对照组 C/T＝2．17;两组 C/T经,差异有统计学意义（P ＝0．003）。这表明该位点 C/T 分布在胰腺炎和健康人群中有显著区别;进一步对该位点按照病情严重程度分层分析结果显示,TT 型基因与 CC 相比,在对轻症急性胰腺炎的发生具有显著的保护作用[OR＝0．61,95％CI ：0．41～0．90,P ＝0．014]。结论由此可见人染色体 XIAP-3′UTR 区域 rs8371位点多态性与中国汉族人群急性胰腺炎易感性显著相关。     

Factors associated with stair climbing ability in patients with knee osteoarthritis and knee arthroplasty: a systematic review

Abstract

Purpose: People with knee osteoarthritis (OA) report ongoing limitations in climbing stairs, even after total knee arthroplasty (TKA). The aim of this systematic review was to synthesise the available evidence of factors affecting stair climbing ability in patients with knee OA before and after TKA. Method: A systematic search was conducted of common electronic databases. All English language abstracts where stair-climbing was assessed in patients with either knee OA or at least 6 months after TKA, and a relationship to any physical, psychological or demographic factors was reported. Results: Thirteen studies were included in the final review, nine investigated a knee OA population, and four investigated a TKA population. For patients with knee OA there was consistent and convincing evidence that greater stair-climbing ability was related to stronger lower limb muscles and less knee pain. For patients with TKA there was much less research, and no conclusions could be reached. Conclusions: For people with knee OA there is evidence that some physical, demographic and psychosocial factors are related to stair-climbing ability. However, the evidence for similar relationships in the TKA population is scarce and needs more extensive research.

• Implications for Rehabilitation

• People with knee osteoarthritis experience difficulty when climbing stairs, and this remains challenging even after knee replacement.

• For people with knee osteoarthritis, a range of physical, demographic and psychosocial factors contribute to stair-climbing ability, however, evidence for similar relationships in the TKA population is scarce.

• Rehabilitation that is multi-faceted may be the best approach to improve stair-climbing in people with knee osteoarthritis.

     

Effects of Baduanjin exercise for knee osteoarthritis: A systematic review and meta-analysis

ObjectivesBaduanjin is a Chinese form of low-intensity aerobic exercise that consists of eight movements. It is one of the most common forms of Chinese Qigong exercise, which originated during the Song dynasty and has a history of more than 1000 years. The aim of this research was to assess the efficacy of Baduanjin exercise for knee osteoarthritis (KOA).MethodsA literature search was conducted of 10 databases (Web of Science, AMED, Scopus, CINAHL, MEDLINE, EMBASE, KoreaMed Synapse, Oriental Medicine Advanced Searching Integrated System, Chinese Wan Fang and China National Knowledge Infrastructure) from their inception to June 2019. We included eligible randomised controlled trials (RCTs) in which Baduanjin was employed either alone or as an adjuvant treatment for baseline interventions in patients with KOA. The Western Ontario and McMaster Universities Arthritis Index (WOMAC), Visual Analogue Scale (VAS) and response rate were used as important outcomes in this research. Risk of bias was assessed using the Cochrane Collaboration tool. Two reviewers independently selected studies, extracted data and assessed risk of bias. Meta-analysis was applied to quantitative data.ResultsSeven RCTs totalling 424 participants were included. Overall, only three studies (43 %) reported adequate random sequence generation, allocation concealment, blinding of outcome assessment and accounting for incomplete outcome data. The results showed a statistically significant mean difference (MD) between Baduanjin exercise and waiting list control on three domains of WOMAC scores [MD=-4.40 (95 % CI: -7.16, -1.64), p < 0.01 in pain; MD=-1.34 (95 % CI: -1.64, -1.04), p < 0.01 in stiffness; MD=-2.44 (95 % CI: -4.33,-0.55), p < 0.01 in physical function] and the response rate [RR = 1.18 (95 % CI: 1.01, 1.37), p = 0.04]. Moreover, when used alone, Baduanjin exercise demonstrated a statistically significant improvement on three domains of WOMAC scores [MD=-1.69 (95 % CI: -2.03, -1.35), p < 0.01 in pain; MD=-0.86 (95 % CI: -1.13, -0.58), p < 0.01 in stiffness; MD=-2.23 (95 % CI: -3.65,-0.82), p < 0.01 in physical function] compared to health education. Furthermore, Baduanjin exercise plus NSAID therapies significantly improved total WOMAC score [MD=-10.26 (95 % CI: -13.41, -7.11), p < 0.01] and reduced VAS [MD=-1.65 (95 % CI: -1.83,–1.48), p < 0.01] compared to NSAID therapies alone.ConclusionThe existing weak evidence suggests that Baduanjin exercise may have favourable effects for KOA patients. However, further rigorously designed RCTs are warranted before it can be recommended.     

Association between SMAD3 gene rs12901499 polymorphism and knee osteoarthritis in a Chinese population

Background

Many studies have revealed that transforming growth factor‐beta (TGF‐β) signals play important roles in maintaining normal status of articular cartilage in human osteoarthritis (OA). However, SMAD3 had inhibitory effect on TGF‐β‐induced chondrocyte maturation.

Method

To evaluate the association of SMAD3 genetic variants with the risk of knee OA, we conducted this hospital‐based case‐control study involving 350 knee patients with OA and 400 controls in a Chinese population. Genotyping was performed using a custom‐by‐design 48‐Plex single‐nucleotide polymorphism (SNP) Scan^™ Kit.

Results

Our results indicate that the GG genotype of rs12901499 could decrease the risk of knee OA compared to AA genotype. However, stratified analyses by sex and age did not obtain positive findings with regard to the association between rs12901499 polymorphism and knee OA risk.

Conclusion

In conclusion, SMAD3 rs12901499 polymorphism may be involved in the development of knee OA. Larger studies with more diverse ethnic populations are needed to confirm these results.

     

EZH2基因多态性与结直肠癌遗传易感性的关联性研究

摘要：目的：探讨EZH2(en hancer of zeste homolog 2)基因单核苷酸多态性（SNPs)与结直肠癌（CRC）遗传易感性的相关性。 方法：用病例-对照方法分析EZH2基因的2个SNPs位点（rs887569与rs1880357）在中南地区汉族人群中的分布。提取96例CRC患者与100例体检健康者的外周血DNA;用聚合酶链式反应-限制性片段长度多态性法（PCR-RFLP）检测EZH2基因型并计算相应等位基因频率;DNA测序验证基因分型结果。 结果：CRC组与健康对照组年龄分布（t=0.693,P=0.489）与性别构成（χ²=0.403,P=0.526）差异无统计学意义。CRC组与健康对照组EZH2基因rs887569位点与rs1880357位点基因频率分布均符合Hardy-Weinberg平衡（P均>0.05）,证明所观察的样本具有群体代表性。EZH2基因rs887569位点TT、CC和TC基因型（χ²=1.531,P=0.465）及rs1880357位点GG、CC和GC基因型（χ²=0.670,P=0.413）在CRC患者和健康对照者间分布差异无统计学意义。对等位基因而言,rs887569位点C>T与rs1880357位点C>G等位基因分布在CRC患者与健康对照者间差异亦无统计学意义（OR=0.875,95%CI:0.488~1.566,P=0.667;OR=0.793,95%CI:0.403~1.563,P=0.503）。 结论：EZH2基因rs887569与rs1880357 SNPs位点多态性可能与CRC发病风险无关。     

The effect of orthotic devices on knee adduction moment,pain and function in medial compartment knee osteoarthritis: a literature review

Background Knee braces and foot orthoses are commonly used to improve knee adduction moment, pain and function in subjects with knee osteoarthritis (OA). However, no literature review has been performed to compare the effects of foot orthoses and knee braces in this group of patients. Purpose The aim of this review was to evaluate the effects of foot orthoses and knee braces on knee adduction moment, pain and function in individuals with knee OA. Study design Literature review. Method The search strategy was based on the Population Intervention Comparison Outcome method. A search was performed in PubMed, Science Direct, Google Scholar and ISI web of knowledge databases using the PRISMA method and based on selected keywords. Thirty-one related articles were selected for final evaluation. Results The results of the analysis of these studies demonstrated that orthotic devices reduce knee adduction moment and also improve pain and function in individuals with knee OA. Conclusion Foot orthoses may be more effective in improving pain and function in subjects with knee OA. Both knee braces and foot orthoses reduce the knee adduction moment in knee OA and consequently patients typically do not need to use knee braces for a long period of time. Also, foot orthoses and knee braces may be more effective for medial compartment knee OA patients due to the fact that this treatment helps improve pain and function.

• Implications for Rehabilitation

• Knee braces and foot orthoses are commonly used for improving knee adduction moment, pain and function in subjects with knee osteoarthritis (OA).

• Orthotic devices can reduce knee adduction moment, pain and improve function in knee OA.

• The combined use of a knee braces and foot orthoses can provide more improvement in knee adduction moment, reduced pain and increased function.

     

IL-1基因单核苷酸多态性在鼻咽癌发生发展中的作用

目的探讨IL-1α-889T/C,IL-1β-511C/T基因单核苷酸多态性与鼻咽癌易感性与复发的关系。方法采用病例对照研究,采集来自辽宁地区不同医院的鼻咽癌患者193例、正常人群231例静脉血,酚氯仿法提取基因,Taqman real-time PCR方法及SDS软件对IL-1α-889T/C,IL-1β-511C/T基因型进行分型。结果单因素分析和多因素分析均显示IL-1α-889T/T基因型与鼻咽癌易感性相关,可以显著降低鼻咽癌发生。进行病理分层后显示T/T基因型在各病理类型中均起到保护作用,IL-1β-511C/T位点的各基因型与鼻咽癌易感性不相关。经单因素及多因素进一步分析后显示,IL-1α-889T/C,IL-1β-511C/T位点各基因型与鼻咽癌复发不相关。结论 IL-1α-889T/C位点单核苷酸多态性与鼻咽癌易感性相关,T/T基因型可以降低北方汉族鼻咽癌发生风险,IL-1β-511C/T位点单核苷酸多态性与鼻咽癌易感性不相关。     

白细胞介素10基因启动子多态性与多发性硬化发病关系的meta分析

目的 探讨白细胞介素10基因启动子多态性-1082 G/A、-819 C/T和-592 C/A与多发性硬化(multiple sclerosis,MS)发病的关系.方法 在PubMed、EBSCO、Ovid、EMbase、CNKI、万方科技与维普数据库中系统性检索1990年1月1日至2015年1月31日发表的相关文献,在等位基因、显性遗传、隐性遗传和共显性遗传4类模型下,合并OR值和95％ CI,并行敏感性分析和发表偏倚评估.结果 共纳入10篇文献,病例组1 483例,对照组1 796例.在所有模型中,-1082、-819位点基因分布在MS组与对照组间差异无统计学意义.但隐性遗传模型(AAvs GA+GG)显示复发缓解型+继发进展型MS亚组与对照组在-1082位点上的基因分布差异有统计学意义(OR=0.729,95％CI=0.534～0.995,P＜0.05).等位基因模型(A vs C)(OR=0.825,95％CI =0.683～0.998,P＜0.05)、显性遗传模型(AA+CA vs CC)(OR=0.764,95％CI=0.605～0.966,P＜0.05)和杂合子模型(CA vs CC)(OR=0.750,95％CI=0.585～0.960,P＜0.05)表明MS组与对照组在-592位点上的基因分布差异有统计学意义.敏感性分析显示,除-819位点杂合子模型和-592位点等位基因模型结果 不稳健外,3个位点各模型均稳健.未发现明显发表偏倚.结论 -1082位点AA基因型对复发缓解型及继发进展型MS的发生具有保护作用;-592位点CA基因型对MS的发生具有保护作用,而CC基因型携带者更易发生MS;-819位点CT基因型相对于CC基因型携带者可能不易发生MS.     

针灸配合功能训练治疗膝骨性关节炎的临床研究

目的:比较针灸治疗与针灸配合功能训练治疗膝关节骨性关节炎的远、近期疗效。方法:99例患者随机分成针灸治疗组和综合治疗组,针灸治疗组仅接受针灸治疗,综合治疗组接受针灸治疗及功能训练。每组患者接受3—4个疗程的治疗,参照Lequesne的评估法对每位患者的临床指标进行疗前、疗后评分;3个月后随访,登记症状复发的阳性率,并进行统计处理。结果:治疗后两组患者膝关节症状及日常生活能力均比各自治疗前明显改善,积分值减少(P<0.05),疗后两组积分比无明显差异(P>0.05),3个月后随访两组的症状复发的阳性率比,综合治疗组低于针灸治疗组(P<0.05)。结论:针灸治疗对OA有肯定的疗效,如果配合功能训练,其疗效更加稳定,不易反复。