The SCN5A Mutation A1180V is Associated With Electrocardiographic Features of LQT3

Mutations of the SCN5A gene are associated with several arrhythmic syndromes including the Brugada syndrome, conduction disease, long QT syndrome type 3 (LQT3), atrial fibrillation, and dilated cardiomyopathy. We report LQT3 associated with an A1180V cardiac sodium channel mutation, previously associated with cardiac conduction block, and dilated cardiomyopathy in three generations of a Chinese family. Clinical, electrocardiographic (ECG), and echocardiographic examination was followed by direct sequencing of SCN5A and HERG to screen genomic DNA from blood samples. The proband presented with multiple syncopes from the age of 7 years and was found to share a mutation with two other members of his family. Continuous ECG monitoring after presentation showed prolonged QTc and biphasic T waves, multiple episodes of ventricular tachycardia and torsades de pointes. The other two mutation carriers showed ECG features of LQT3 without clinical symptoms. Transthoracic echocardiography showed normal cardiac structure in all three mutation carriers. This study shows LQT3 features associated with an A1180V cardiac sodium channel mutation, expanding the spectrum of phenotypes resulting from this mutation in which biophysical study has shown a persistent late Na⁺ current.     

粉尘螨HSP16-1原核表达体系构建与温度应激响应功能鉴定

目的 建立原核表达体系,在蛋白水平确认粉尘螨HSP16-1蛋白的温度应激响应功能.方法 基于前期RNA-seq获得的粉尘螨HSP16-1基因序列,设计特异性引物,PCR扩增克隆测序;利用生物信息学软件,分析理化性质,预测亚细胞定位和三维结构;通过构建pET32a/HSP16-1原核表达质粒,转化大肠杆菌感受态细胞BL2...     

Mechanisms of chloroquine resistance in malarial chemotherapy

Malaria is a protozoan parasitic infection threatening millions of people throughout the world. Over 6 million cases of malaria are treated annually and in Africa alone one million infant deaths can be attributed directly to malaria. Chloroquine has been the mainstay of malaria chemotherapy for nearly 50 years, but widespread resistance now limits its usefulness. Stephen Ward outlines the pharmacology of this drug. possible mechanisms of parasite resistance and pharmacologically based strategies that may be useful in attempting to override this resistance.     

Hemodynamic changes between different anatomically designed stents after carotid stenting: a prospective multicenter study

Journal of Neurology - The aim of this study was to investigate differences in the dynamic changes and risk factors of hemodynamic depression (HD) between straight and tapered carotid stenting (SCS...     

Body Mass Index and Hormone Receptor Status Influence Recurrence Risk in HER2-Positive Early Breast Cancer Patients

IntroductionA reliable risk stratification on the basis of tumor biology and host factors of HER2-positive (HER2⁺) early breast cancer (eBC) patients is needed. The aim of our study was to assess the prognostic role of body mass index (BMI) and hormone receptor (HR) expression in this setting.Patients and MethodsWe retrospectively evaluated 238 women with stage I to III HER2⁺ breast cancer who completed adjuvant chemotherapy (CHT) and 1 year of treatment with trastuzumab. The end point was 3-year distant disease-free survival (3yDDFS). Survival analysis was evaluated using the Kaplan–Meier method. Multivariate analysis was performed using Cox proportional-hazards model adjusting for HR status, BMI, tumor staging, size, nodal status, and type of adjuvant CHT. Association among categorical variables was assessed using χ² test.ResultsThe early recurrence rate after 3 years resulted as 4.2% (40% HR⁺ patients and 60% HR⁻ patients). Neither HR status nor BMI alone showed an association with 3yDDFS in multivariate analysis. However, the hazard ratios for patients with HR⁻ tumors who had also BMI ≥25 (3yDDFS 86.9%; 95% confidence interval [CI], 75.0%-97.7%) were amplified compared with patients with HR⁺ tumors and with BMI <25 (3yDDFS 98%; 95% CI, 94.8%-100.0%) and other subgroups (P = .003). This observation was confirmed in multivariate analysis (hazard ratio, 1.79; 95% CI, 1.04-3.07; P = .03).ConclusionOur real-life data highlight a different risk of eBC recurrence after grouping patients according to HR status and BMI. These results might help clinicians to identify correct treatment strategies. Patients who are HR⁻ and have BMI ≥25 might benefit from escalation approaches, whereas those who are HR⁺ and have BMI <25 might be eligible for a shorter duration of adjuvant treatment with anti-HER2 agents.     

儿童肾脏非霍奇金淋巴瘤的CT诊断价值

目的探讨儿童肾脏非霍奇金淋巴瘤CT平扫及增强表现,提高对该病的认识。方法回顾性分析50例经手术或活检病理证实的儿童肾脏非霍奇金淋巴瘤(原发性1例,继发性49例)CT表现。结果 50例儿童肾脏非霍奇金淋巴瘤影像学表现多样,根据CT表现可分为5型:多发结节型、单发结节型、弥漫浸润型、邻近后腹膜淋巴瘤侵犯型及肾周肿块型。本组36例多发结节型,其中双侧多发34例,单侧多发2例;8例单发结节型,其中右侧单发6例,左侧单发2例;3例弥漫浸润型;2例邻近后腹膜淋巴瘤侵犯型;1例肾周肿块型。结论儿童肾脏非霍奇金淋巴瘤CT表现形式多样,但具有一定特征,对于准确诊断儿童肾脏非霍奇金淋巴瘤,指导临床分期、制定治疗方案及观察疗效具有重要意义。     

细菌脂多糖对破骨细胞发育的抑制作用研究

目的:寻找调节破骨细胞分化成熟的途径.方法:采用细胞核因子-KB受体活化因子配体(RANKL)和巨噬细胞集落刺激因子(M-CSF)体外诱导骨髓单核细胞分化为成熟破骨细胞的培养方法,在培养体系中加入不同浓度细菌脂多糖(LPS),用抗酒石酸酸性磷酸酶(TRAP)染色观察成熟破骨细胞形成情况;实时定量RT-PCR检测LPS处理后破骨细胞前体表达核因子-κB受体活化因子(RANK)和M-CSF受体mRNA.结果:LPS不能刺激骨髓单核细胞形成TRAP阳性的破骨细胞;减少了RANKL诱导的TRAP阳性破骨细胞形成数量;0.2ng/ml和20ng/ml LPS降低了30％和90％RANKL诱导TRAP阳性细胞形成数量(与未加LPS组比较,均P＜0.01);降低破骨细胞前体表达RANK和M-CSFR mRNA.结论:LPS能够抑制RANKL诱导的破骨细胞分化成熟,抑制破骨细胞前体表达RANK和M-CSFR,能够阻断其向成熟分化.     

多靶点治疗老年肾病综合征的临床分析

目的探讨多靶点治疗老年肾病综合征的临床疗效。方法我院2012-05~2014-05收治的63例老年肾病综合征患者随机分为多靶点治疗组和对照组。多靶点治疗组应用强的松、吗替麦考酚酯、他克莫司联合治疗,对照组应用强的松和环磷酰胺治疗。治疗3个月后,观察各治疗组的临床表现和尿液以及血液生化指标。结果治疗3个月后,多靶点组患者的治疗总有效率为96.88%(31/32),明显高于对照组83.87%(26/31)(P<0.05);多靶点组患者的尿蛋白定量、血肌酐、胆固醇以及血清白蛋白均较对照组明显改善(P<0.05);多靶点组患者的复发率和不良反应发生率均明显低于对照组(P<0.05)。结论多靶点治疗老年肾病综合征的临床疗效显著。