AT1R基因多态性与原发性高血压合并脑血管病的相关性研究

目的探讨Ⅰ型血管紧张素Ⅱ受体(AT1R)基因多态性对原发性高血压人群脑血管病发生的影响.方法应用多聚酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测60例正常对照者、45例原发性高血压无合并症(EH)、33例原发性高血压合并脑出血(EH-CH)及73例原发性高血压合并脑梗死(EH-CI)患者AT1R基因3'非翻译区A1166C变异的多态性.结果①EH组和EH-CH组的AC+CC基因型频率与对照组比较差异有显著性(均P＜0.05),两组的C等位基因频率(分别为0.29和0.33)显著性高于对照组(0.17),但两组间基因型频率和C等位基因频率比较无显著性差异;②EH-CI组的基因型频率分布及C等位基因频率与对照组、EH组比较均差异无显著性;③逐步Logistic回归表明AT1R基因多态性是EH发生的独立危险因素(OR=0.44,P＜0.05),但未证实AT1R基因多态性是EH-CH发病的独立危险因素;④AT1R基因多态性与高血压合并脑血管病患者的收缩压和舒张压水平呈正相关(分别r=0.23和0.25,均P＜0.05),而与糖、脂代谢无相关.结论AT1R基因1166C等位基因可能通过对血压的影响而间接参与高血压人群脑出血的发病,但与高血压患者是否发生脑梗死可能无关.     

中国神经皮肤黑色素增多症的临床现状——附病例报道并文献回顾（附1例报告）

目的 探讨神经皮肤黑色素细胞增多症(NCM)的临床、影像及病理组织特点。方法 回顾性分析1例NCM患者的临床病理和组织形态特点,并收集国内20年来该病种的相关临床资料进行文献复习。结果 患者46岁男性,出生时有全身多发片状色素沉着,后背部显著,突出于皮面,上有毛发增生。先后出现头痛、视物重影、颅内压升高、双下肢无力、排尿费力等神经系统症状。MRI示延髓周围软脑膜强化,颈胸腰椎脊膜及脊髓明显强化,伴马尾神经纠缠增粗强化。腰椎椎管内病灶活检病理结果：瘤细胞体积中等大小,胞浆丰富,胞核呈圆形或卵圆形,有异型性,部分瘤细胞中见大量黑色素。免疫组化染色示S100、HMB45阳性,Ki67约10%阳性。结论 NCM是由于神经嵴或神经外胚层黑色素细胞发育异常所致的罕见先天性疾病。根据国内文献回顾,NCM患者均在早年出现皮肤黑色素痣,皮肤黑色素痣通常呈良性,但发展为NCM则预后不良。完善的病史采集、实验室检查、影像学检查、病理组织学检查有利于早期确诊NCM,以避免误诊误治,改善患者预后,降低死亡率。     

基于WHO慢病创新服务体系的我国农村慢病控制障碍性因素探讨

以WHO慢病创新服务体系为理论框架,在对山东省八县现场调查资料及我国相关政策文件研究基础上,通过理顺“慢病防控目标导向基本医疗保健功能建设,功能建设导向基本医疗保健体系建设,体系建设导向政策制定”的思路,基于基本医疗保健的视角,从微观(患者)、中观(基本医疗保健体系)、宏观(政策)三个层面系统的分析我国慢病控制障碍,进而探索慢病高发的根源性因素,即政策层面的缺失与不合理.     

难治性癫痫与多药耐药基因1C3435T多态性的相关性

目的 探讨多药耐药基因1(MDR1)C3435T位点多态性与汉族难治性癫痫(RE)的关系. 方法 收集170例诊断明确、治疗合理的汉族癫痫患者,根据是否符合RE诊断标准将其分为RE组(91例)和非RE组(79例).RE定义为:至少观察2年,按患者发作类型正确使用≥2种对该发作类型有效的抗癫痫药物,单药前、后分别使用或联合使用,仍每月发作≥1次达2年及以上者.采用多聚酶链反应限制性片段长度多态性方法检测患者外周血MDR1基因C3435T多态性. 结果 RE组CC、CT、TT基因型分别占48.4%、40.7%、11.0%,非RE组分别占40.5%、38.0%、21.5%,总体差异无统计学意义(x2=3.615,P=0.164).RE组患者C3435T等位基因C、T频率分别为68.7%、31.3%,非RE组患者分别为59.5%、40.5%,差异也无统计学意义(x2=3.112,P=0.080).根据病因将患者分为原发性癫痫、症状性或隐源性癫痫2组,结果示2组患者中RE亚组和非RE亚组C3435T基因型分布、等位基因频率差异均无统计学意义(P＞0.05). 结论 本研究未发现MDR1基因C3435T多态性与汉族RE有关.

Abstract：

Objective To clarify the relation between the C3435T polymorphism of multidrug resistance 1 (MDR1) gene and human refractory epilepsy (RE) in ethnic Han Chinese. Methods We collected 170 patients with epilepsy, whose diagnoses were correct and treatments were reasonable. RE was defined as having uncontrolled seizures that occurred with an average frequency of at least once a month for a period of at least 2 years; during the 2-years period, at least 2 different antiepileptic drugs (AEDs) were used daily, either singly or in combination. According to the definition, 91 patients were classified into RE group and the other 79 patients into non-RE group. A 5-mL venous blood sample was taken from the patients for DNA extraction and genotyping. Genotype of C3435T polymorphism in MDR1 gene was determined by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP). Results The distribution of CC, CT, TT genotypes was 48.4%, 40.7%,11.0% in RE group, and 40.5%, 38.0%, 21.5% in non-RE group, respectively; no significant differences of C3435T genotype were noted between the 2 groups (x2=3.615, P=0.164). The C and T allele frequencies were 68.7%, 31.3% in RE group, and 59.5%, 40.5% in non-RE group, respectively; no significant differences were found between 2 groups (x2=3.112, P=0.080). Patients were divided into primary epilepsy group and cryptogenic or symptomatic epilepsy group according to the etiology;analyses of the genotype and allele of C3435T in the sub-groups (RE and non-RE subgroups) of this 2 groups were similarly unremarkable. Conclusion No association between the C3435T polymorphism in MDR1 gene and RE in ethnic Han Chinese is noted.     

散发型Creutzfeldt-Jakob病三例误诊分析

目的分析Creutzfeldt-Jakob病的误诊原因,提出防范误诊对策。方法回顾性分析3例Creutzfeldt-Jakob病的诊治过程。结果 3例分别以言语紊乱、反应迟钝、头晕、步态不稳等就诊,病初误诊为老年痴呆、缺血性脑血管病、颈椎病、多发腔隙性脑梗死。入我院后完善脑电图、3T头颅MRI增强扫描等检查,明确诊断为Creutzfeldt-Jakob病。结论 Creu-tzfeldt-Jakob病早期症状极不典型,进行性痴呆、肌阵挛等是其典型临床表现,三相波为该病典型脑电图表现,脑电图、3T头颅MRI增强扫描有助诊断。     

公立医院医养融合体系构建与发展路径探析

我国人口老龄化程度持续加深，慢性病、失能、半失能老年群体数量不断增加，国家不断在顶层设计层面加强对医养融合模式的探索。针对医养融合的发展现状和存在问题，重点讨论了公立医院医养融合服务体系的建设和发展路径，对明确二、三级医院的角色定位，建立医联体医养融合模式，建立双向转诊模式，建立老年人群健康评估体系，建立跨部门高效合作网络，构建智慧医养融合模式，培养和储备老年医学医护人员等提出了政策性建议和创新性思路，以期构建长期照护与医疗护理的高效统一和深度融合的服务体系，提高老年群体生存质量。