Loss of function,missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank. Two rare intronic variants in strong linkage disequilibrium displayed significant association with risk for LVOTO amongst European-ancestry individuals. This result was replicated in an independent analysis of 210 cases and 68,762 controls of non-European and mixed ancestry. In conclusion, carrying rare predicted loss of function variants in NOTCH1 confer significant risk for LVOTO. In addition, the two intronic variants seem to be associated with an increased risk for these defects. Our approach demonstrates the utility of population-based data sets in quantifying the specific risk of individual variants for disease-related phenotypes.     

8种寄生虫病例分析

本文报道并分析8例寄生虫病例,其中包括脑裂头蚴病、眼部裂头蚴病、肺吸虫幼虫移行症、肺吸虫病、钩虫病、肝吸虫病、包虫病和广州管圆线虫病各1例。8例寄生虫病均有不同程度的误诊,其中6例在寄生虫抗体筛查检测阳性后得以确诊。因此,寄生虫病应引起临床医生的重视,抗体筛查有助于发现寄生虫病例。     

肿瘤合并感染新冠肺炎患者临床分析及疫情期间肿瘤患者的管理建议

目的:探讨分析肿瘤合并新冠病毒感染患者情况并提出自己的思考与建议。方法:通过统计2020年1月至2020年3月期间纳入的313名本院肿瘤科在新冠疫情期间肿瘤合并感染新冠肺炎患者情况，汇总临床资料，分析患者肺部影像学特点，总结肿瘤合并新冠肺炎病毒感染患者临床特征、预后及转归等，并提出自己建议。结果:科室总共313名患者住院，5名新冠感染患者，新冠病毒肺炎发生率为1.6%，这比之前所报道的武汉市新冠病毒普通人群发生率0.37%要高接近3倍，肿瘤合并新冠患者死亡率接近20%。结论:对于疫情结束初期病房应尽量减少患者非必要往返医院次数，实行肿瘤患者分层管理，加强轻症患者随访，线上管理等；而对于住院患者，则采取缓冲分诊模式，做好病房消毒隔离以及管理，避免感染，减少肿瘤病房新型冠状病毒爆发概率。     

经皮肺动脉瓣植入术在肺动脉瓣反流患者中的临床应用

经皮肺动脉瓣植入术(PPVI)在我国作为一种新兴的技术,开展相对较晚,但随着我国医疗水平的不断提高以及临床对于右心室流出道梗阻的先天性心脏病患者术后出现重度肺动脉瓣反流的不断重视,PPVI在我国得到了飞速发展。近十几年来,欧美国家已在临床成熟应用PPVI,相对于传统外科手术而言其具有微创、可重复性、术后疗效好等优点。现对PPVI在肺动脉瓣反流患者中的临床应用进行叙述。     

丽水市十三项呼吸道病原体感染情况及特点分析北大核心CSCD

目的了解丽水市呼吸道病原体感染情况及流行病学特征,为呼吸道传染病诊疗与防控提供科学依据。方法回顾性分析2020年3月至2021年12月丽水市人民医院收治的4035例呼吸道感染患者13项呼吸道病原体PCR毛细电泳核酸检测结果,并分析病原体感染分布特征。结果呼吸道病原体感染患者阳性检出率为32.24%(1301/4035),检出率前5位分别是HRV(16.60%)、HRSV(7.09%)、HPIV(2.87%)、HMPV(2.21%)、HADV(1.96%)。混合感染阳性占比为7.61%(99/1301),Boca病毒(76.0%)与Ch(46.15%)易与其它病原体形成混合感染。不同性别呼吸道病原体感染率差异无统计学意义(P>0.05)。虽然不同季节呼吸道病原体整体感染率差异无统计学意义(P>0.05),但HRV好发于春秋两季,而HPIV在春秋两季感染率较低,春季HRSV感染率较低,HADV在夏秋两季感染率较低,HMPV在冬季较为流行。未成年人呼吸道病原体感染率较高,HRSV、HRV、HPIV、HADV和Boca主要发生于未成年人组,InfB和HMPV在未成年和青年人群感染率都较高。结论未成年人群是呼吸道病原体易感人群,应加强未成年人呼吸道传染病防控。     

Current standards and future perspectives in adjuvant treatment for biliary tract cancers

Biliary tract cancer, including cholangiocarcinoma (CCA) and gallbladder cancer (GBC) are rare tumours with a rising incidence. Prognosis is poor, since most patients are diagnosed with advanced disease. Only ~20% of patients are diagnosed with early-stage disease, suitable for curative surgery. Despite surgery performed with potentially-curative intent, relapse rates are high, with around 60–70% of patients expected to have disease recurrence. Most relapses occur in the form of distant metastases, with a predominance of liver spread. In view of high tumour recurrence, adjuvant strategies have been explored for many years, in the form of radiotherapy, chemo-radiotherapy and chemotherapy. Historically, few randomised trials were available, which included a variety of additional tumours (e.g. pancreatic and ampullary tumours); most evidence relied on phase II and retrospective studies, with no high-quality evidence available to define the real benefit derived from adjuvant strategies.Since 2017, three randomised phase III clinical trials have been reported; all recruited patients with resected biliary tract cancer (CCA and GBC) who were randomised to observation alone, or chemotherapy in the form of gemcitabine (BCAT study; included patients diagnosed with extrahepatic CCA only), gemcitabine and oxaliplatin (PRODIGE-12/ACCORD-18; included patients diagnosed with CCA and GBC) or capecitabine (BILCAP; included patients diagnosed with CCA and GBC). While gemcitabine-based chemotherapy failed to show an impact on patient outcome (relapse-free survival (RFS) or overall survival (OS)), the BILCAP study showed a benefit from adjuvant capecitabine in terms of OS (pre-planned sensitivity analysis in the intention-to-treat population and in the per-protocol analysis), with confirmed benefit in terms of RFS. Based on the BILCAP trial, international guidelines recommend adjuvant capecitabine for a period of six months following potentially curative resection of CCA as the current standard of care for resected CCA and GBC. However, BILCAP failed to show OS benefit in the intention-to-treat (non-sensitivity analysis) population (primary end-point), and this finding, as well as some inconsistencies between studies has been criticised and has led to confusion in the biliary tract cancer medical community.This review summarises the adjuvant field in biliary tract cancer, with evidence before and after 2017, and comparison between the latest randomised phase III studies. Potential explanations are presented for differential findings, and future steps are explored.     

敷料更换的不同次数对穿刺引流术后穿刺口感染的影响

目的 研究敷料更换的不同次数对穿刺引流术后穿刺口感染的影响.方法 随机将该院2013年6月—2014年7月收治的100位进行穿刺引流术的患者分为两组,50例为A组,50例为B组. 为A组患者1周更换1次敷料,B组患者1周更换2次敷料. 对两组患者穿刺口感染的情况进行分析比较. 结果 A组患者穿刺口感染的几率显著低于B组(P<0.05),A组患者的病原菌定植率显著低于B组(P<0.05),两组患者导管相关性血流感染率差异无统计学意义(P>0.05). 结论 穿刺引流术后的患者1周更换1次敷料比较合理,既能降低患者术后穿刺口感染的几率,又能降低医护人员的工作量,但要注意在敷料发生松动或者潮湿时也要及时进行更换.