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简介：AbstractAlthough whole-exome sequencing and whole-genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders, about half of the patients still do not receive a molecular diagnosis. The high fraction of variants with uncertain significance and the challenges of interpretation of noncoding variants have urged scientists to implement RNA sequencing (RNA-seq) in the diagnostic approach as a high throughput assay to complement genomic data with functional evidence. RNA-seq data can be used to identify aberrantly spliced genes, detect allele-specific expression, and identify gene expression outliers. Amongst eight studies utilizing RNA-seq, a mean diagnostic uplift of 15% has been reported. Here, we provide an overview of how RNA-seq has been implemented to aid in identifying the causal variants of Mendelian disorders.

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简介：AbstractPlatelet-rich fibrin (PRF) is a second-generation platelet concentrate obtained from autologous blood. PRF is composed of abundant platelets, leucocytes, and a high concentration of various growth factors and fibrinogen. The composition and three-dimensional structure of PRF enable it to effectively make cells migrate and proliferate, playing an important role in tissue repair. Furthermore, the easy preparation and low cost of PRF make it a good treatment option. Numerous articles have been published about the application of PRF in clinical practice, however, the application of PRF in dermatology has not been comprehensively reviewed. The objective of this review article was to discuss various applications of PRF in dermatology, including healing chronic wounds, treating androgenic alopecia, skin rejuvenation, autologous fat transplantation, and treating vitiligo. PRF is a promising dermatologic treatment, but lacks a standardized protocol regarding its methods of attainment and use, which needs more investigations.

简介：AbstractObjective:The aim of the study was to investigate the pregnancy outcomes and possible influencing factors concerning complicated monochorionic (MC) multiple pregnancies undergoing selective fetal reduction using radiofrequency ablation (RFA).Methods:This retrospective cohort study included 54 women with complicated MC multiple pregnancy who underwent selective fetal reduction using RFA at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to March 2020. According to the indications for RFA, the 54 women were divided into three groups: complex complications (n = 30), structural anomalies (n = 18), and triplet pregnancy (n = 6). According to the gestational age for RFA, all patients were divided into three groups: 16-19+6 weeks (n = 17), 20-23+6 weeks (n = 17), and 24-26+6 weeks (n = 20). We analyzed the pregnancy outcomes (including the overall survival rate (OSR), gestational age at delivery, birth weight of newborns) and postoperative complications such as miscarriage, and intrauterine fetal death (IUFD) according to the indications and gestational age of reduction by using suitable statistical testing.Results:The OSR was 83.3% (45/54). The mean ± standard deviation (SD) of gestation at the time of reduction was 21.6 ± 3.2 weeks. The GA at delivery was 34.0(32.0,37.5) weeks. The mean ± SD of newborns’ birth weight was 2118 ± 685 g. The overall rates of miscarriage, PROM, and IUFD were 9.3% (5/54), 7.4% (4/54), and 7.4% (4/54), respectively. According to the indications for reduction, the OSR for complex complications, structural anomalies, and triplet pregnancy groups were 83.3% (25/30), 83.3% (15/18), and 83.3% (5/6), respectively. Statistically significant differences were only found in the mean birth weight among the three groups (P < 0.05). No significant difference was found in the rate of miscarriage, and mean gestation at delivery among the three groups (P > 0.05). In the group with complex complications, the OSR of twin-to-twin transfusion syndrome, selective intrauterine growth restriction, twin reversed arterial perfusion sequence, and twin anemia polycythemia sequence were 66.7% (6/9), 93.3% (14/15), 80.0% (4/5), and 100.0% (1/1), respectively, with no significant difference among these groups (P > 0.05). According to the gestational age of reduction, the OSRs among the three groups were 82.4% (14/17), 76.5% (13/17), and 90.0% (18/20), respectively, and the rate of miscarriage, IUFD, and mean gestation age at delivery among these groups showed no significant difference (P > 0.05).Conclusion:Selective fetal reduction by RFA is an important treatment method for complicated MC multiple pregnancy, although it may lead to complications like miscarriage, and IUFD. The indication of reduction seems to affect the pregnancy outcome. An optimal treatment plan should be selected according to the patient’s conditions in clinical practice.

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简介：摘要：煤炭是中国的主要化石能源，也是许多重要化工品的主要原料，随着国家经济的发展，化工品的需求也出现较高的增长速度。煤化工在中国能源、化工领域中已占有重要地位。我国根据自身能源结构特点，实行以煤为主的能源政策。但是在利用煤炭的同时，将会产生大量的C02。本文就C02的产生与减排进行了相关探讨。

简介：摘要：13C呼气试验是诊断幽门螺杆菌（Hp）感染的金标准，具有操作简单、准确性高、安全无创等优点。但在实际操作中，受多种因素影响可能造成结果假阳性或假阴性，这对试验操作和护理工作提出高要求。本文从Hp感染概述入手，介绍了13C呼气试验的适应症、操作流程和优点，详细总结了护理配合方法，并对假阴性结果进行分析，以供参考。

简介：摘要目的探讨染色体13q22.1-13q31.3缺失患儿的临床特征、染色体核型分析及染色体微阵列技术(CMA)检测结果。方法选择2019年2月12日，于泉州市妇幼保健院·儿童医院康复科诊治的1例确诊为染色体13q22.1-13q31.3部分缺失的5个月龄男婴为研究对象。对本例男婴的染色体核型及单核苷酸多态性微阵列(SNP-array)检测结果进行回顾性分析。以"13q"或"13q22"或"13q31"和"缺失"等为中、英文关键词，在万方数据知识服务平台、中国知网及PubMed等数据库中，对有关13q22.1-13q31.3缺失患者的研究文献进行检索。文献检索年限设定为2002年6月至2022年6月。本研究遵循的程序符合泉州市妇幼保健院·儿童医院伦理委员会规定，并获得该伦理委员会批准(审批文号：2020-31)。结果①本例男婴染色体核型为46，XY，del(13)(q32)，SNP-array检测结果为染色体13q22.1-13q31.3存在19.5 Mb缺失，缺失片段内含在线人类孟德尔遗传(OMIM)的MIR17HG (609415)、POU4F1(601632)和EDNRB (131244)等30个基因。根据本例男婴临床表型及查询相关数据库，其染色体13q22.1-13q31.3缺失被判读为致病性染色体拷贝数变异(CNV)。②文献复习结果：根据本研究设定的检索策略，共计检索到4篇相似区段染色体缺失研究相关英文文献，纳入研究患儿为4例，其分别为染色体13q21.1-13q31.1缺失(男性，确诊时年龄为13个月)，13q21.32-13q31.1缺失(男性，确诊时年龄为20岁)，13q22q31缺失(男性，确诊时年龄为9岁)，13q22.2-13q31.1缺失(女性，确诊时年龄为1岁)。结论本例男婴的染色体13q22.1-13q31.3部分缺失为国内首次报道，尚需进一步明确13q近端缺失与临床表型的关系。CMA技术有助于进一步明确染色体缺失片段长度及位置。

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简介：摘要：本文通过介绍崇明生态岛建设公路工程温拌SMA-13沥青混合料（WSMA-13）的施工工艺，结合现有规范和建设公路工程WSMA-13施工质量标准，总结了WSMA-13在建设公路工程中质量的控制方法，确保了建设公路项目中WSMA-13的施工质量。

简介：AbstractViral isolation in cell cultures has been regarded for decades as the "gold standard" for the laboratory diagnosis of influenza viral infections. Not all viral strains could be isolated from clinical samples. This study aimed to quantify the viral load in the samples before isolation to save working time and improve working efficiency. Four hundred samples from patients with influenza-like cases were confirmed pdmH1N1 positive (200 cases) and B Victoria (BV) positive (200 cases) by whole-genome sequencing and analyzed by ddPCR for viral load in samples before isolation, and isolation results were verified by hemagglutination (HA) assay and hemagglutination-inhibition (HI) tests. Probit regression analysis was used to calculate the isolation viral load limit with a 95% probability level by SPSS 19.0 software. The results showed that the isolation limit of viral load was 4.9 × 104 (95% CI: 2.5 × 104-9.0 × 104) copies/mL for pdmH1N1 and 1.9 × 104 (95% CI: 7.8 × 103-3.6 × 104) copies/mL for BV. The isolation rate of clinical samples is positively correlated with the viral load in clinical samples, which can be used for viral culture, providing important guidance for daily work.

简介：摘要目的回顾性分析13例儿童布鲁菌病病例的流行病学调查和临床资料，总结其临床特征和治疗经验。方法回顾性分析2017年3月至2021年7月内蒙古医科大学附属医院儿科收治的13例儿童布鲁菌病患儿的病例资料，对患儿的流行病学特点、临床表现、实验室检查结果、影像学检查结果、临床诊断、治疗方案及预后等情况进行统计与分析。结果13例患儿平均年龄7.5岁；男11例，女2例。其中3例有羊接触史及家庭成员患布鲁菌病病史，其余均为有牛羊鲜奶或生肉接触史。发病时间全年中以3~8月发病率最高，占发病总数的92.3%(12/13)。临床表现以发热为主，占92.3%(12/13)，其次是出汗、疲劳、皮疹、关节炎等。实验室检查显示血清凝集试验阳性率100%(13/13)，血培养阳性9例(69.2%)。13例患儿均给予口服多西环素、利福平、复方新诺明联合治疗，疗程结束后均随访1年或至今(每3个月1次)，痊愈12例(92.3%)，后遗症1例(7.7%)。结论儿童布鲁菌病临床表现可涉及多器官、多系统，发热为最常见的临床表现；早期治疗预后良好。

简介：    [内容摘要]使学生能够通过标题和图片预测文章大意；能够通过快速阅读定位事实细节题目的答案；能够用自己的语言简单复述部分课文内容；通过本节课，培养学生创新思维，认识到环保的重要性并能够创造性地处理生活垃圾，发扬勤俭节约的优良品质，认识到垃圾回收的价值。帮助学生意识并理解词根词缀法对英语词汇学习的便利。采用希沃白板课堂活动中的“趣味分类”游戏；培养学生快速阅读获取主要大意的能力和查找事实细节信息的能力；辅助希沃白板中的思维导图，因势利导，环环相扣地提问；培养学生环保意识和勤俭节约的优良品。环境污染视频导入，唤起学生环保的共鸣，针对垃圾的可回收与不可回收设置“趣味分类”游戏，课程结束布置垃圾分类相关作业；难点：根据仅有信息进行课文复述借助希沃白板的“思维导图”，使复述有依可循，帮助学生架构课文内容在日常生活中坚持垃圾分类并积极主动展开回收再利用布置相关作业，培养垃圾分类意识，牢记五中分类，并回收利用生活废弃物。

简介：摘要：道路排水沥青混凝土路面安全防护服务功能优良，噪声低、抗滑性能好，雨天行驶安全性高，本文以正公路直管区段快速化改造项目运用PA-13排水沥青混凝土为例，对原材料性能技术指标、从配合比设计过程进行了分析介绍，可为类似工程提供一定的经验。

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简介：AbstractThe outbreak of coronavirus disease 2019 (COVID-19) has adversely affected the public domain causing unprecedented cases and high mortality across the globe. This has brought back the concept of biosafety into the spotlight to solve biosafety problems in developing diagnostics and therapeutics to treat COVID-19. The advances in nanotechnology and material science in combination with medicinal chemistry have provided a new perspective to overcome this crisis. Herein, we discuss the efforts of researchers in the field of material science in developing personal protective equipment (PPE), detection devices, vaccines, drug delivery systems, and medical equipment. Such a synergistic approach of disciplines can strengthen the research to develop biosafety products in solving biosafety problems.

简介：摘要目的探讨肾移植术后肺孢子菌肺炎(pneumocystis carinii pneumonia，PCP)的临床诊治经验。方法回顾性分析2020年1月至2022年1月广西医科大学第二附属医院收治的通过宏基因组二代测序(metagenomics next-generation sequencing，mNGS)确诊PCP的13例肾移植受者的临床资料。其中，女性3例，男性10例；年龄(46±10)岁；术后发病中位时间为10(2~21)个月；临床表现为发热11例，咳嗽7例，咳痰6例，气促11例。采用配对t检验，对受者入院及出院时的实验室检查结果进行对比分析。结果13例PCP肾移植受者均通过肺泡灌洗液/静脉血mNGS检测确诊。入院时G试验、LDH检测、总T淋巴细胞绝对计数(CD3+Abs)、抑制/细胞毒T淋巴细胞计数(CD3+CD8+Abs)、辅助/诱导T淋巴细胞绝对计数(CD3+CD4+Abs)分别为(543.27±440.49)pg/ml、(529.98±222.43)U/L、(191.92±119.42)个/μl、(87.33±50.59)个/μl、(106.92±87.42)个/μl，与出院时的(69.58±50.21)pg/ml、(285.38±46.62)U/L、(888.58±672.99)个/μl、(336.83±305.21)个/μl、(520.08±388.76)个/μl比较，差异均有统计学意义(P<0.001、P＝0.002、0.006、0.017、0.005)。13例均采用复方磺胺甲恶唑+卡泊芬净联合方案进行治疗，治愈12例，另1例治疗21 d后因感染性休克而死亡。结论mNGS检测是早期确诊PCP的重要方法之一；复方磺胺甲恶唑+卡泊芬净的抗感染效果良好；免疫功能监测对于抗感染及免疫抑制剂方案的调整具有重要意义。