On the Origin of the Transthyretin Val30Met Familial Amyloid Polyneuropathy

Transthyretin (TTR) familial amyloid polyneuropathy is a severe autosomal dominant neuropathy of adulthood, frequently linked to the pathogenic Val30Met variant of the TTR gene. The condition was initially described in northern Portugal, which is the first focus of the disease. Other important clusters of families are found in Sweden, Japan and South America.
The origin of the Val30Met mutation and its distribution through the populations remains unclear. In the present work, we aimed at refining the history of the Val30Met mutation in patients affected with TTR amyloid neuropathy from Portugal, Sweden and Brazil. The decay of haplotype sharing was studied in 60 patients to estimate the age of the Most Recent Common Ancestor (MRCA) of mutation carriers in these populations. Our results showed a common haplotype in Portuguese and Brazilian patients and an age estimate of the MRCA of 750 and 650 years, respectively. In contrast, a different haplotype was found in the Swedish Val30Met patients with a corresponding age estimate for the MRCA, of 375 years.
This work strengthens the hypothesis of different founders in Portuguese and Swedish Val30Met carriers and suggested a Portuguese origin of the Brazilian mutation. The age estimates of the MRCA are in line with the current historical knowledge of these populations.     

Thymic output, ageing and zinc

The role of the thymus is vital for orchestration of T-cell development and maturation. With increasing age the thymus undergoes a process of involution which results in a reduction in thymic size, function and output. Until relatively recent it was not feasible to accurately measure the magnitude of age-related loss of thymic function. With the discovery of T-cell receptor excision circles (TRECs), which are the stable by-products of the newly generated T-cells, it is now possible to quantitatively measure the extent of thymic output. This review examines the available data on immune function and zinc deficiency and places them in the context of the aims of the ZINCAGE project which include the evaluation of the role played by zinc in maintaining thymic output in healthy elderly individuals.Presented at the ZincAge Conference, Madrid, February 10–13, 2006.     

H-FABP对冠脉支架术后近期心血管事件的预测

目的观察心肌脂肪酸结合蛋白对冠状动脉支架术后近期心血管事件的预测价值。方法入组90例成功择期PCI的冠心病患者,测定其冠脉支架术后3～6h内的H-FABP,并术后随访6个月,以发生心脏事件(包括心源性猝死,血管内再狭窄,充血性心力衰竭)为研究终点。结果经过6个月的随访,共有26例发生了心血管事件,其中心源性猝死1例,血管内再狭窄10例,充血性心力衰竭15例。心脏事件组H-FABP阳性率较无心血管事件组增高(P<0.05);Cox模型多因素逐步分析显示H-FABP阳性是冠脉支架术后再发心脏事件的独立危险因子(RR=5.82,P<0.05;95%CI 1.37～24.73)。结论 H-FABP阳性增加CHD患者支架术后6个月内发生心脏事件的风险,H-FABP阳性是冠心病冠脉支架术后心脏事件的独立危险因子。     

胰腺癌基因治疗的研究现状

胰腺癌是消化道常见恶性肿瘤之一,早期诊断困难,手术切除率低,预后差,且发病率呈逐年上升趋势。胰腺癌的常规治疗方式包括手术治疗、放疗、化疗,但90％的患者在就诊时已失去手术机会,且胰腺癌对放疗、化疗均不敏感。相对于以上传统的治疗方式,基因治疗是一个充满活力的研究领域,近年来备受关注,其中很多研究已进入Ⅰ/Ⅱ临床试验阶段。...     

近十年乳腺增生病的中医药治疗近况

就近十年来中医药治疗乳腺增生的临床研究进行综述,从辨证论治、分期疗法、经验方治疗、外治法治疗、综合治疗等方面详尽介绍了中医药治疗乳腺增生的研究近况,为临床进一步研究提供依据。     

《眼科新进展》1981～2001年所载随机对照治疗试验文献方法学评价

目的了解<眼科新进展>杂志从1981～2001年随机对照治疗试验(randomized controlled trials,RCT)论文的设计和撰写规范.方法逐期逐篇手工检索<眼科新进展>1981年创刊起至2001年88期发表的临床治疗试验论文,鉴定分析其中的随机对照临床治疗试验论文.结果检索出RCT论文48篇,占临床治疗性试验论文的4.31%,半随机对照临床治疗试验(clinic controlled trials,CCT)论文5篇.结论RCT论文占临床治疗性试验论文的比例逐年增加趋势.说明眼科医师的临床研究开始从经验医学向循证医学转变.     

昆明市2018年～2020年新发现HIV-1感染男男性行为人群新近感染分析

目的  了解2018年～2020年昆明市通过社会组织新报告的HIV-1感染男男性行为人群（men who have sex with men,MSM）的新近感染情况和影响因素,为该人群的艾滋病防治提供参考。 方法  对昆明市2018年1月至 2020年12月经抗体筛查和确证检测后的MSM阳性样本采用HIV-1限制性抗原亲和力酶联免疫方法（HIV-1 LAg-Avidity enzyme immunoassay,LAg-Avidity EIA）结合CD4⁺T淋巴细胞计数判断新近感染,采用Logistic回归分析新近感染影响因素。 结果  共收集389份阳性样本,2018年1月至2020年12月HIV-1新近感染者比例分别为48.1%（90/187）、51.6%（49/95）、30.8%（33/107）,2018年1月和2019年12月的新近感染比例,差异无统计学意义（P > 0.05）,2020年的新近感染比例低于2018年和2019年（P < 0.05）。多因素Logistic回归分析显示职业为学生（P = 0.017,OR = 2.989,95%CI：1.221～7.318））检测出新近感染的比例高。 结论  昆明市MSM人群HIV-1新近感染的比例出现下降趋势,在部分人群中新近感染的比例较高,需要有针对性地采取措施,加强新近感染的监测,通过社会组织加强干预服务的可及性,进一步促进检测。