目的 探讨Wilson病患者未来时间洞察力(FTP)对用药依从性的影响及相关因素.方法 选取安徽中医药大学神经病学研究所附属医院2021年6至8月收治的67例Wilson病患者为研究对象,根据Mosisky用药依从性问卷评分分为用药依从性好组29例,用药依从性差组38例;比较两组患者FTP及状态-特质焦虑问卷(STAI)评分,采用多重线性回归分析影响Wilson病患者FTP量表评分的因素.结果 用药依从性好组患者FTP量表总分及行为承诺、未来效能、目的意识、未来意象各因子评分,STAI量表状态焦虑评分、特质焦虑评分均明显低于用药依从性差组,差异均有统计学意义(均P＜0.05);两组患者FTP量表远目标定向评分比较,差异无统计学意义(P＞0.05).年龄、特质焦虑评分是FTP量表总分、行为承诺评分、未来效能评分的影响因素(均P＜0.05),状态焦虑评分是FTP量表行为承诺评分、目的意识评分的影响因素(均P＜0.05).结论 FTP高、焦虑轻的Wilson病患者具有较好的用药依从性,而年龄、状态焦虑、特质焦虑是FTP的影响因素.

多巴胺反应性肌张力障碍(dopa-responsive dystonia,DRD)是一种十分罕见的遗传性肌张力障碍疾病,其患病率为(0.5～1.0)/1000000[1].其临床表现十分复杂,导致临床早期治疗极困难,误诊率较高,致使不少患者被误诊而辍学、肢体残疾,很多病例直至生活不能自理方才明确诊治,部分患者确诊时已遗留明显的后遗症[2].已判定出DRD疾病的重要致病基因有GCH1基因、TH基因和SPR基因.其中最常见致病基因为GCH1基因,但仍有约33.3％患者未发现该基因编码区存在异样.TH基因和SPR基因突变引发的DRD少见.截至目前,在国内外已报道的研究中,TH突变基因上发现的突变主要以纯合子突变为主要形式,杂合子突变存在少数[3].本文现报道1例散发的TH杂合子突变所致病例,并结合相关文献进行分析,以加深临床医生对该病的发病机制、临床表现及遗传学基础的了解,以进一步提升临床诊断水平,以免误诊误治.

Objective:To develop the rat model of lung-qi deficiency pattern so as to provide reliable animal model for the study of lung-qi deficiency pattern caused by chronic respiratory infections.Methods: Healthy SD rats were randomly divided into blank control group,smoked control group,high-,middle-,and low-concentration of bacterial model groups.The model groups were dripped with respiratory tract biofilm bacteria(Pseudomonas aeruginosa) through noses combined with cold and fatigue stimulus to induce chronic respiratory infections and lung qi deficiency pattern.The symptoms,swimming time,changes in weight,blood rheology and pathogenesis in bronchial and lung tissues and organs were observed.Results: The general signs of the model rats were in line with lung-qi deficiency pattern of traditional Chinese medicine,and their symptoms were more stable than that of the smoked control group.The swimming time and weight gain were less than that of the blank control group,especislly for the group of high concentration of bacteria(P0.05 or P0.01).Blood rheology was abnormal,bronchial and lung inflammation were evident,and the degree of inflammation was related to bacterial concentrations.Conclusion: Combined with droping respiratory tract biofilm bacteria(Pseudomonas aeruginosa) to the noses and cold and fatigue stimulus can develope the rat model of lung-qi deficiency pattern.The related index indicates that the models are of the pathogenesis characteristic of traditional Chinese medicine.Besides,the model was stable,easy to be replicated,and simliar to clinical origin.