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简介：AbstractBackground:The CHA2DS2–VASc score was initially applied to stratify stroke risk in patients with atrial fibrillation (AF) and was found to be effective in predicting all-cause mortality outcomes. To date, it is still unclear whether circulating long non-coding RNAs (lncRNAs) as emerging biomarkers, can improve the predictive power of the CHA2DS2–VASc score in stroke and all-cause mortality.Methods:Candidate lncRNAs were screened by searching the literature and analyzing previous RNA sequencing results. After preliminary verification in 29 patients with AF, the final selected lncRNAs were evaluated by Cox proportional hazards regression in 192 patients to determine whether their relative expression levels were associated with stroke and all-cause mortality. The c-statistic, net reclassification improvement (NRI), and integrated discrimination improvement of the patients were calculated to evaluate the discrimination and reclassification power for stroke and all-cause mortality when adding lncRNA expression levels to the CHA2DS2–VASc score model.Results:Five plasma lncRNAs associated with stroke and all-cause mortality in AF patients were selected in our screening process. Patients with elevated H19 levels were found to have a higher risk of stroke (hazard ratio [HR] 3.264, 95% confidence interval [CI]: 1.364–7.813, P = 0.008). Adding the H19 expression level to the CHA2DS2–VASc score significantly improved the discrimination and reclassification power of the CHA2DS2–VASc score for stroke in AF patients. In addition, the H19 level showed a marginally significant association with all-cause mortality (HR 2.263, 95% CI: 0.889–5.760, P = 0.087), although it appeared to have no significant improvement for the CHA2DS2–VASc model for predicting all-cause mortality.Conclusions:Plasma expression of H19 was associated with stroke risk in AF patients and improved the discriminatory power of the CHA2DS2–VASc score. Therefore, lncRNA H19 served as an emerging non-invasive biomarker for stroke risk prediction in patients with AF.

简介：摘要目的夏科-马里-图斯病/腓骨肌萎缩症（Charcot-Marie-Tooth disease，CMT）是临床和遗传异质性较强的遗传性周围神经病，患病率约为1/2 500。本研究旨在对携带MFN2、BSCL2以及LRSAM1突变中国患者的临床及基因突变特点进行分析。方法收集2012年12月至2020年3月于解放军总医院神经内科临床诊断为CMT的患者共206例，对其进行病史采集、神经系统体格检查、实验室检查、神经传导检查（nerve conduction studies，NCS）以及高通量核苷酸测序和生物信息学分析。结果临床诊断为CMT的206例中，MFN2突变10例，男性7例、女性3例，其中2例有阳性家族史，并发现3个未报道突变：c.475-2A>G（剪切突变）；c.687dupA（p.E230Rfs*16）和 c.558dupT（p.S186fs）；BSCL2突变4例：c.461C>G（p.S154W）、c.461C>T（p.S154L）、c.1309G>C（p.A437P）和c.845C>T（p.A282V），其中c.1309G>C（p.A437P）和c.845C>T（p.A282V）为未报道突变；LRSAM1未报道突变2例：c.1930G>T（p.G644C）和c.1178T>A（p.L393Q）。结论本研究通过对临床诊断为CMT患者进行高通量靶向测序，发现了MFN2、BSCL2和LRSAM1未报道突变，拓展了中国人群CMT这一疾病的基因谱。

简介：【摘要】目的 骨关节炎（Osteoarthritis,OA）是一种累及关节软骨及非软骨组织的骨关节高发病，具有症状进行性加重的特点，严重影响患者生活质量，早期诊断及治疗成为临床工作亟待解决的问题。T2 mapping作为一项磁共振的新技术，可以针对损伤组织中各成分含量的改变进行定量分析，从而检测出早期OA的软骨变性。三维梯度回波T2*加权脂肪抑脂(three-dimensional Gradient recalled echo T2*weighted imaging fat suppression,3D GRE T2*WI fs)是在GRE T2*WI基础上研发的扫描序列，扫描时间较常规PD抑脂像节省了65秒的时间，可大范围、无间隔连续薄层扫描。本研究旨在评估T2 mapping及3D GRE T2*WI抑脂像在髋关节OA诊断中的应用价值及其临床意义。

简介：摘要：经济社会迅猛发展，在改变人们物质同时，对人们思想也产生很大冲击，尤其是区块链技术的产生，使得越来越多的人开始关注在区块链技术基础上的去中心化电动汽车V2G新模式，该项工作顺利实施，不仅可以促进电动汽车交易的稳定性，还能满足当前社会发展需求。基于此，本文主要阐述了去中心化V2G新模式的基本内涵，探究基于区块链技术的去中心化电动汽车V2G新模式可采取的交易方式，有望对部分学者提供指导和帮助。

简介：摘要：在硫回收装置中，将H2S/SO2比值当成是重要的工艺控制参数，需通过准确测量气体浓度反映装置节能效率，为加强环境污染控制提供科学依据。结合某石化公司案例展开分析，可知在克劳斯硫磺回收装置运行期间，配备紫外线气体分析仪对H2S/SO2比值进行连续测量，通过对仪器运用问题展开分析，提出使用建议，能够做到精准监测尾气中的污染气体含量。

简介：【摘要】目的 分析2型糖尿病（T2DM）合并非酒精性脂肪肝（NAFLD）的患者应用SGLT-2抑制剂的效果与安全性。方法 选择本院收治52例2型糖尿病（T2DM）合并非酒精性脂肪肝（NAFLD）的患者作为实验对象，实验时间为2020年5月～2022年5月，利用随机、单盲法分为常规组和实验组，各26例。其中26例患者采用接受常规治疗（二甲双胍+格列美脲）的方式，组成常规组；剩余的26例患者接受SGLT-2抑制剂（二甲双胍+格列美脲+达格列净）的治疗，统归为实验组；对比两组患者的治疗效果和不良反应发生率。结果 实验组的治疗有效率为96.15%、不良反应发生率为7.69%，常规组的治疗有效率为73.08%、不良反应发生率为30.77%，差异有统计学意义（P﹤0.05）。结论 当吧SGLT-2抑制剂应用在2型糖尿病（T2DM）合并非酒精性脂肪肝（NAFLD）的患者身上，可以有效改善患者的血糖以及肝功能情况，减少不良反应的出现，提升患者的用药安全性，保证患者的治疗效果，值得在临床中推广。

简介：摘要目的探讨脊髓小脑共济失调2型（SCA2）致病基因ATXN2异常等位基因中间重复个体的表型和分子遗传学特点。方法针对2005—2018年中日友好医院神经科运动障碍与神经遗传病研究中心收集的1 383个常染色体显性遗传共济失调家系的先证者和部分家系成员，采用荧光标记毛细管电泳片段分析方法进行动态突变检测，对携带ATXN2基因中间重复的个体进行临床表型和遗传特征分析。结果共检出163个家系（包含先证者和家系成员共203人）携带异常扩展的ATXN2基因CAG重复序列，其中93个家系中有107例的异常扩展等位基因重复次数在29~34次之间。在其中的20个亲子对中，父系遗传16个，异常等位基因的代间扩展增加0~28次，母系遗传4个，异常等位基因的代间扩展增加0~4次。结论对于临床拟诊SCA2家系患者，需对其亲代或成年子代个体进行ATXN2基因检测，以免漏诊。动态突变基因检测有助于识别中间重复的个体，对明确家系致病基因和遗传咨询至关重要。

简介：摘要目的本实验旨在进一步验证与评价M2BP与M2BPGi在胆道闭锁（biliary atresia，BA）患儿肝纤维化中的作用。方法收集2019年9月至2020年11月天津市儿童医院普外科收治的48例行肝相关手术的患儿肝组织标本，患儿按疾病类型分为实验组（BA组）35例，其中男17例，女18例，年龄为60(30, 60) d；对照组（DC组）13例，其中男7例，女6例，年龄为120(60, 720) d。DC组中包括2例胆汁淤积，7例胆总管囊肿（choledochal cyst，CC），4例胆管发育不良（biliary hypoplasia，BH）。通过免疫组织化学检测肝组织中M2BP蛋白含量，分析其与肝组织纤维化分级的相关性；通过实时荧光定量聚合酶链反应（real-time reverse transcription polymerase chain reaction，qRT-PCR），检测肝组织中M2BP mRNA含量，分析其转录、翻译水平是否表达一致。另收集患儿中26例BA、4例BH的血清，检测患儿肝功能相关的生化指标，采用酶联免疫吸附测定（enzyme-linked immunosorbent assay，ELISA）检测其血清M2BPGi浓度。患儿组间比较采用Mann-Whitney U秩和检验；用Spearman相关分析评价M2BP及M2BPGi水平与肝纤维化分级的相关性，建立ROC曲线评价血清M2BPGi浓度在肝纤维化中的作用。结果①免疫组织化学结果显示，M2BP表达于肝细胞、巨噬细胞胞质内；BA组患儿肝组织中M2BP蛋白的含量为0.187(0.116, 0.222），高于DC组的0.122(0.072, 0.141），组间比较，差异有统计学意义（P=0.004）；肝组织中M2BPGi的含量与肝纤维化分级存在正相关（rs=0.847，P< 0.001）。②qRT-PCR结果显示，BA组患儿肝组织中M2BP mRNA水平为0.099(0.059, 0.138），高于DC组的0.036(0.015，0.064），组间比较，差异有统计学意义（P<0.001）；Ⅲ~Ⅳ级肝纤维化中M2BP mRNA水平为0.129(0.093, 0.194），高于Ⅰ~Ⅱ级肝纤维化的0.060 （0.027, 0.098），组间比较，差异有统计学意义（P<0.001）；与肝组织中M2BP蛋白含量表达一致，随着肝纤维化分级增加，M2BP mRNA水平也随之增加。③ELISA结果显示，Ⅲ~Ⅳ级肝纤维化的血清中M2BPGi含量为6.07 （5.03 ，10.33) ng/ml，高于Ⅰ~Ⅱ级肝纤维化的2.70(2.03, 3.68) ng/ml，组间比较，差异有统计学意义（P<0.001）。单独建立血清中M2BPGi评估肝纤维化分级的ROC曲线，当评估Ⅲ~Ⅳ级肝纤维化时，显示曲线下面积为0.972 （95%的置信区间为0.918~1.000），敏感度、特异度、准确度、PPV和NPV分别为0.889、1.000、94.45%、100.00%和90.01 %，M2BPGi的临界值4.48 ng/ml。结论M2BP在BA肝组织中高表达且随肝纤维化程度加重而增加，血清中其糖基化异构体M2BPGi在预测BA患儿肝纤维化的严重程度方面有一定价值。

简介：【摘要】目的 探讨达格列净联合二甲双胍治疗2型糖尿病的疗效及对氧化-抗氧化平衡的影响。方法 选取2020年7月-2021年8月本院收治的T2DM者84例纳入研究，所分观察组（42例）联合用药（达格列净与二甲双胍），42例对照组（二甲双胍治疗），对比效果。结果 与对照组（有效率）相比，观察组要更高（P

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简介：AbstractSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continues to evolve, generating new variants that pose a threat to global health; therefore, it is imperative to obtain safe and broad-spectrum antivirals against SARS-CoV-2 and its variants. To this end, we screened compounds for their ability to inhibit viral entry, which is a critical step in virus infection. Twenty compounds that have been previously reported to inhibit SARS-CoV-2 replication were tested by using pseudoviruses containing the spike protein from the original strain (SARS-CoV-2-WH01). The cytotoxicity of these compounds was determined. Furthermore, we identified six compounds with strong antagonistic activity against the WH01 pseudovirus, and low cytotoxicity was identified. These compounds were then evaluated for their efficacy against pseudoviruses expressing the spike protein from B.1.617.2 (Delta) and B.1.1.529 (Omicron), the two most prevalent circulating strains. These assays demonstrated that two phenothiazine compounds, trifluoperazine 2HCl and thioridazine HCl, inhibit the infection of Delta and Omicron pseudoviruses. Finally, we discovered that these two compounds were highly effective against authentic SARS-CoV-2 viruses, including the WH01, Delta, and Omicron strains. Our study identified potential broad-spectrum SARS-CoV-2 inhibitors and provided insights into the development of novel therapeutics.

简介：AbstractOmicron (B.1.1.529), the fifth variant of concern (VOC) of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), was firstly identified in November 2021 in South Africa. Omicron contains far more genome mutations than any other VOCs ever found, raising significant concerns about its increased transmissibility and immune evasion. Here, we report the importation of the Omicron variant into Beijing, China, in December 2021. Full-length genome sequences of five imported strains were obtained, with their genetic features characterized. Each strain contained 57 to 61 nucleotide substitutions, 39 deletions, and 9 insertions in the genome. Thirty to thirty-two amino acid changes were found in the spike proteins of the five strains. The phylogenetic tree constructed by the maximum likelihood method showed that all five imported genomes belonged to Omicron (BA.1) (alias of B.1.1.529.1), which is leading to the current surge of coronavirus disease 2019 (COVID-19) cases worldwide. The globally increased COVID-19 cases driven by the Omicron variant pose a significant challenge to disease prevention and control in China. Continuous viral genetic surveillance and increased testing among international travellers are required to contain this highly contagious variant.

简介：AbstractAt present, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spread worldwide, which has emerged multiple variants and brought a threat to global public health. To analyze the genomic characteristics and variations of SARS-CoV-2 imported into Beijing, we collected the respiratory tract specimens of 112 cases of coronavirus disease 2019 (COVID-19) from January to September 2021 in Beijing, China, including 40 local cases and 72 imported cases. The whole-genome sequences of the viruses were sequenced by the next-generation sequencing method. Variant markers and phylogenic features of SARS-CoV-2 were analyzed. Our results showed that in all 112 sequences, the mutations were concentrated in spike protein. D614G was found in all sequences, and mutations including L452R, T478K, P681R/H, and D950N in some cases. Furthermore, 112 sequences belonged to 23 lineages by phylogenetic analysis. B.1.1.7 (Alpha) and B.1.617.2 (Delta) lineages were dominant. Our study drew a variation image of SARS-CoV-2 and could help evaluate the potential risk of COVID-19 for pandemic preparedness and response.

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简介：摘要本文报道2例胎儿Pierre Robin序列征（PRS），由胎儿MRI诊断并在引产或生后得以证实。PRS在胎儿MRI上表现为小下颌、舌根后坠、气道变窄及腭裂。MRI诊断PRS有较高的敏感性，可诊断胎儿PRS伴随的结构畸形，给予围生期咨询提供一定指导建议。