基于生物信息学的肥厚型心肌病易感基因TNNC1单核苷酸多态性致病表型分析

肥厚型心肌病(HCM)是一种常见的遗传性心脏病,是青少年及年轻运动员心源性猝死的最主要原因之一,其分子遗传学基础为基因突变。TNNC1是HCM的重要致病基因之一,目前仅发现其少量非同义单核苷酸多态性(nsSNPs)位点与HCM发病相关,但该基因其他nsSNPs数量较多,结合临床进行实验遗传检测其基因型与表型的关系,工作量巨大,尚不可行。因此,采用生物信息学方法,从dbSNP数据库中筛选出TNNC1基因全部的nsSNPs,联合4款(Mutation Taster、PolyPhen-2、PhD-SNP和MutPred)专业软件,进行有害性分级筛选和致病关联预测,最后进行突变蛋白三维结构建模及可视化分析。结果显示,首次从TNNC1基因102个nsSNPs位点中预测出疾病相关的18个(G159D、S69R、P52R、D149G、D3V、G140E、N51K、D151V、M47R、G110C、A23D、G140R、K158N、C35Y、R147C、L48P、F74C和V44G)高风险nsSNPs。基于生物信息学方法,以TNNC1基因的nsSNPs为示范,分析其nsSNPs与疾病表型的关系,这为其他遗传疾病致病基因nsSNPs的关联分析打下理论研究基础,具有重要的参考价值。     

腹腔镜经脐单一部位幽门环肌切开术治疗小儿先天性肥厚性幽门狭窄的临床效果研究

目的研究腹腔镜经脐单一部位幽门环肌切开术治疗小儿先天性肥厚性幽门狭窄的临床效果。方法100例小儿先天性肥厚性幽门狭窄患儿作为研究对象,按照随机方式分为观察组和对照组,每组50例。对照组采用腹腔镜幽门环肌切开术治疗,观察组采用腹腔镜经脐单一部位幽门环肌切开术治疗。观察记录患儿的手术结果及随访结果,并比较两组患儿手术时间、术后住院时间。结果手术过程顺利,100例患儿均成功完成手术,无一例中转开腹手术,无并发症发生。观察组患儿术后6 h将胃管取下,少量喂入温水后逐渐过渡到喂糖水、喂奶;对照组患儿术后24 h开始逐渐进食。患儿术后进行6个月的延续性随访,观察组患儿切口恢复美观,已经无法观察到切口瘢痕,两组患儿的生长发育均显示正常状态。观察组患儿手术时间(21.23±1.65)min及术后住院时间(5.58±1.98)d均显著短于对照组的(38.44±1.23)min、(9.67±1.22)d,差异具有统计学意义(P<0.05)。结论先天性肥厚性幽门狭窄患儿采用腹腔镜经脐单一部位幽门环肌切开术治疗,手术效果良好,手术创伤小而且安全。     

Thromboembolism in Patients with Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disease, which has a marked heterogeneity in clinical expression, natural history, and prognosis. HCM is associated with a high prevalence of thromboembolic events (stroke and systemic embolic events), even if taking no account of atrial fibrillation (AF), leading to unexpected disability and death in patients of all ages. Several risk factors of thromboembolism such as AF, greater age, left atrial diameter, heart failure and others have been confirmed in patients with HCM. Conventional thromboembolic predictive models were estimated by several trials in HCM population but it turned out to be unsatisfactory. Based on those previous explorations, researchers tried to modify or develop novel models suitable for HCM population in thromboembolism prediction. In consideration of catastrophic advent events of thromboembolism, current guidelines have recommended life-long anticoagulant therapy after a single short AF.Therefore, early identification of risk factors for thromboembolism, accurate risk stratification, timely preventive measures and aggressive management may help to avoid serious adverse thromboembolic events in HCM population.     

Short- and long-term outcome after alcohol septal ablation in obstructive hypertrophic cardiomyopathy: Experience of a reference center

IntroductionIn obstructive hypertrophic cardiomyopathy (HCM), alcohol septal ablation (ASA) can lead to gradient reduction and symptom improvement. We aimed to assess the efficacy and safety of ASA in a long-term outcome study.MethodsWe analyzed patients who underwent ASA over a seven-year period in a tertiary center. The primary echocardiographic endpoint was >50% reduction in left ventricular outflow tract (LVOT) gradient within a year of the procedure. The primary clinical endpoints were improvement in functional capacity and a combined endpoint of cardiac death and rehospitalization for cardiac cause. The follow-up period was 4.17±2.13 years.ResultsA total of 80 patients, mean age 63.9±12.3 years, 30.0% male, were analyzed. Baseline LVOT gradient was 96.3±34.6 mmHg and interventricular septal thickness was 21.6±3.1 mm. Minor complications were observed in 6.3% and major complications in 2.5%, and 8.8% received a permanent pacemaker.The primary echocardiographic endpoint was achieved by 85.7%. At three-month follow-up, LVOT gradient was 25.8±26.0 mmHg in the successful procedure group, compared to 69.2±35.6 mmHg in the other patients (p=0.001). At six months, LVOT gradient was 27.1±27.4 vs. 58.2±16.6 mmHg (p=0.024). Among 74 patients in NYHA class III/IV before the procedure, 57 (77%) improved to NHYA class I/II. The combined primary clinical endpoint (cardiac death and rehospitalization for cardiac cause) was observed in 27.5% (n=22). In the unsuccessful group, the combined endpoint was observed in 54.5%, compared to only 22.7% in the successful group. Only two patients died of cardiac causes.ConclusionASA is a safe procedure with a high success rate. Patients who achieved significant reductions in LVOT gradient suffered less cardiac death and rehospitalization for cardiac cause.     

动物瘢痕模型的相关研究进展

皮肤损伤后的异常愈合会导致病理性瘢痕的产生。病理性瘢痕的出现不仅影响美观,严重时还会造成心理和生理功能障碍。病理性瘢痕的机制研究对于瘢痕治疗有极为重要的意义。其中,动物瘢痕模型是目前研究病理性瘢痕的重要模型手段之一。理想的动物瘢痕模型应该在组织学、细胞学等层面尽可能接近于人类的病理性瘢痕。该文分别从传统技术动物瘢痕中的啮齿类动物模型、兔耳模型和猪模型,以及新技术动物瘢痕模型这两个方面,结合近年来在瘢痕领域应用较多的研究,进行了相应系统的阐述。     

Complete form of pachydermoperiostosis

Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. Its pathogenesis is uncertain and the diagnosis is based on clinical and radiological data. A complete form of the syndrome is reported in a male patient with disease onset in adolescence, with compatible clinical and radiological findings, presenting the three cardinal findings as well as other associated manifestations, such as hyperhidrosis and acne.     

奇正青鹏膏联合点阵激光治疗增生性瘢痕疗效观察

目的:探讨奇正青鹏膏联合点阵激光治疗增生性瘢痕的疗效。方法:选择2016年7月-2018年7月笔者医院接诊的70例增生性瘢痕患者为研究对象,以随机数表法分为观察组(n=36)和对照组(n=34),对照组使用点阵激光进行治疗,观察组在对照组的基础上加用奇正青鹏膏治疗。比较两组的临床疗效、瘢痕厚度、改良温哥华烧伤瘢痕评分(VSS)、抑郁评分、焦虑评分及不良反应发生情况。结果:治疗后,观察组总有效率97.22%,高于对照组的79.41%(P<0.05);治疗前,两组患者瘢痕厚度、VSS评分无显著性差异;治疗后,两组患者瘢痕厚度、VSS评分均显著性降低,且观察组患者瘢痕厚度、VSS评分均显著低于对照组(P<0.05);治疗前,两组患者抑郁评分、焦虑评分无显著性差异;治疗后,两组患者抑郁评分、焦虑评分均显著性降低,且观察组患者抑郁评分、焦虑评分均显著低于对照组(P<0.05);治疗期间,观察组患者不良反应总发生率为5.56%,显著低于对照组的23.53%(P<0.05)。结论:增生性瘢痕采用奇正青鹏膏联合点阵激光治疗效果显著,可有效改善患者心理情况。