Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population

Epidermolysis bullosa (EB) is a heritable blistering disorder. We performed a next-generation sequencing-based multigene panel test and successfully predicted 100% of the EB types, including, 36 EB simplex (EBS), 13 junctional EB (JEB), 86 dystrophic EB (DEB), and 3 Kindler EB. Chinese JEB and recessive DEB (RDEB) patients have relatively mild phenotypes; for severe type separately accounts for 45.5% and 23.8%, respectively. We identified 96 novel and 49 recurrent pathogenic variants in 11 genes, although we failed to detect the second mutation in one JEB and five RDEB patients. We identified one novel p.E475K mosaic mutation in the clinically normal mother of one out of 13 EBS patients with KRT5 mutations, one recurrent p.G2034R mosaic mutation, and one novel p.G2043R mosaic mutation in the clinically normal relatives of two out of 19 dominant DEB patients. This study shows that next-generation technology could be an effective tool in diagnosing EB.     

海南省三亚地区2019—2020年妊娠期糖尿病发生情况及与孕妇饮食行为的关系研究

目的调查海南三亚地区2019—2020年妊娠期糖尿病(GDM)发生情况并研究其与孕妇饮食行为的关系。方法以2019年1月—2020年12月在海南三亚地区2家医院产科建档行定期规范产前检查的孕妇为研究对象,调查孕妇的基本临床资料与饮食行为情况,采用单因素分析、多因素分析方法分析孕妇饮食行为与GDM发病的关系。结果 20 086名孕妇中,GDM患者3 173例,GDM发生率为15.80%。高龄(OR=3.812)、孕前体质量指数(BMI)高(OR=2.473、2.975)、有糖尿病家族史(OR=2.730)、甜食食用频率高(OR=1.394、1.723)、每日水果摄入量多(OR=1.342、1.387、1.458)、精制谷物比例高(OR=1.357)、高脂食品摄入频率高(OR=1.510)的孕妇发生GDM的可能性较大,日运动时间≥1 h(OR=0.435)的孕妇发生GDM的可能性较小。结论海南三亚地区GDM发生率较高,其发生与孕妇饮食行为有关,甜食与高脂食品摄入频率过高、每日水果摄入量过多、主食过于精制是GDM的危险因素,每日运动时间≥1 h是GDM的保护因素。     

Same-Day Yttrium-90 Radioembolization: Feasibility with Resin Microspheres

Purpose

To evaluate the feasibility of a same-day yttrium-90 (⁹⁰Y) radioembolization protocol with resin microspheres (including pretreatment angiography, lung shunt fraction [LSF] determination, and radioembolization) for the treatment of hepatocellular carcinoma (HCC) and liver metastases.

武连仲教授治疗坐骨神经痛经验

全国名中医天津中医药大学第一附属医院针灸科武连仲教授用多年的临床经验总结概括出针刺的理、法、方、穴、术，其创立的"通经止痛"针刺疗法在临床中疗效佳，武老在治疗坐骨神经痛时，取足太阳膀胱经和足少阳胆经具有走窜针感的经穴为主穴，其配伍精确，组方严密，手法独特，可供临床参考。本文将武老运用"痛经止痛"针刺法治疗坐骨神经痛的经验从"理、法、方、穴、术"方面做浅述。     

黄芪活血功效及现代药理学研究进展

黄芪始载于《神农本草经》,有补气升阳、益卫固表,利水消肿,托毒生肌之效。被誉为补气健脾之要药,临床上常用于气虚乏力、脾虚泄泻等疾病,已为医者所熟知。近年来,研究学者围绕其补气、健脾、利水功效机制已有较全面的认识。然陶弘景在《本草经集注》首载黄芪"逐五脏间恶血",表明本品兼有活血作用。目前,对于本品活血作用机制阐释,中医常基于"补气活血""气行血行"理论进行论证,但并不等同于本品无活血作用。通过梳理历代本草文献中对黄芪的记载,发现其活血作用应用广泛。综合传统方剂与现代方剂中有关其活血作用的应用,本品在方中行活血通络、活血利水、活血扶正作用,尤能体现其活血作用。且现代药理学研究在有关瘀血病理指标的分子机制中,黄芪有很好的调控作用,表明黄芪有活血作用,但未深入探究,存在研究价值。该文从历代文献对黄芪活血功效的论述、黄芪活血作用的临床应用及现代药理学研究深入探讨其活血作用机制,以期扩展黄芪的临床应用范围,为临床治疗提供理论指导。     

阴道锥体训练联合生物反馈盆底肌治疗尿失禁老年人盆底肌康复研究现状

目的研究阴道锥体训练联合生物反馈盆底肌治疗尿失禁老年人的临床疗效及对盆底肌的影响。方法选取84例从2016年9月至2018年3月本院收治的尿失禁老年患者进行研究,以随机抽签法将其均分为联合组及对照组,每组42例。对照组予以常规盆底肌训练治疗,联合组则予以阴道锥体训练联合生物反馈盆底肌治疗。对比两组在临床疗效、治疗前后盆底肌力情况、治疗前后尿动力学参数指标水平以及生活质量变化情况等方面的差异。结果联合组与对照组在总有效率方面比较,前者高于后者(P<0.05)。治疗后联合组盆底肌力分级为Ⅳ级、Ⅴ级的人数占比相比对照组较高(P<0.05)。治疗后联合组与对照组在VLPP、PMUC水平方面比较,前者高于后者(P<0.05)。治疗后联合组与对照组I-QOL评分相比治疗前较高,且联合组相比对照组较高(P<0.05)。结论阴道锥体训练联合生物反馈盆底肌治疗老年尿失禁患者的疗效显著,有利于促进盆底肌力的恢复,且有效改善患者尿动力学参数,提高生活质量,具有较高的临床推广应用价值。     

Comparison of Laparoscopic-Assisted Operations and Laparotomy Operations for the Treatment of Hirschsprung Disease: Evidence From a Meta-Analysis

The purpose of this meta-analysis is to compare the relative merits among laparoscopic-assisted operations and laparotomy operations for patients with Hirschsprung disease.PubMed, Web of Science, and Wanfang databases were searched for the related articles. We analyzed dichotomous variables by estimating odds ratios (ORs) with their 95% confidence intervals (CIs) and continuous variables using the weighted mean difference (WMD) with the 95% CI. The random-effects model (REM) was used to combine the results. The outcome measures included operating time (OT), estimated blood loss (EBL), length of hospital stay (LOHS), mean first bowel movement (MFBM), and number of complications.Sixteen articles were included in the meta-analysis. These studies involved a total of 774 patients, 396 of whom underwent laparoscopic-assisted operations and 378 of whom underwent laparotomy operations. The EBL (WMD = −1.48, 95% CI = −1.82, −1.13), LOHS (WMD = −0.67, 95% CI = −0.86, −0.49), MFBM (WMD = −0.83, 95% CI = −1.05, −0.61), and number of complications (OR = 0.60, 95% CI = 0.40, 0.89) were significantly lower in laparoscopic-assisted operations than in laparotomy operations. The OT (WMD = 0.12, 95% CI = −0.05, 0.28) showed no significant differences between laparoscopic-assisted operations and laparotomy operations.Compared with laparotomy operations, laparoscopic-assisted operations are generally safer and more reliable for patients with Hirschsprung disease.