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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.

  • 标签: Aberrant expression Clinical diagnosis Gene expression outliers Genetics diagnosis RNA phenotype RNA sequencing Transcriptome
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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.

  • 标签: androgenic alopecia autologous fat transplantation chronic wounds dermatology platelet-rich fibrin skin rejuvenation vitiligo
  • 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.

  • 标签: Twins Monochorionic pregnancies Fetal reduction Radiofrequency ablation Pregnancy outcomes Influencing factors
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  • 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.

  • 标签: Influenza virus ddRT-PCR Viral load Viral isolation
  • 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.

  • 标签: COVID-19 SARS-CoV-2 Biosafety Nanomaterials Diagnostics Therapeutics
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  • 简介: 摘要:原水水质报告数据不准确,造成水处理工艺设计、计算存在缺陷,不能满足现场实际生产需要。特别是阳床的运行周期仅为9小时左右,阳床正常的运行周期应该与阴床相匹配在20小时左右。阳床运行周期短且不能与阴床同步再生,导致中和水池PH呈强酸性,需要投加大量的液碱对废水进行中和处理后排放,造成原材料浪费严重,运行成本增加。

  • 标签: 脱盐水  运行周期  再生 
  • 简介:摘要:电子产品日趋复杂化、精细化和小型化,装配难度增大,我所如何在新的加工制造形势下提高产品加工的装配效率和质量。针对这一问题,制造部在领导组织、协调下,成立了数字化装配工艺攻关团队。这是我所进行的一项创新工作。作为团队成员,本人仔细研究了数字化装配工艺设计的方法,对数字化装配工艺设计需要解决的问题进行了分析,在配合我所信息化建设的步伐中,为数字化设计制造进行了技术储备。

  • 标签: 数字化装配 军用电子产品 可视化 三维装配工艺 MBD
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  • 简介:AbstractSince severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was first identified during late 2019, the sustained spread of this pathogen within the human population has caused worldwide disruption with staggering infection rates and death tolls. Due to the accumulation of mutations in SARS-CoV-2, the virus has evolved into many variants, five of which have been listed as variants of concern VOCs by the World Health Organization (WHO). Multiple animal models of SARS-CoV-2 have been developed to evaluate vaccines and drugs and to assess the pathogenicity, transmissibility and antiviral measures of these VOCs. Here, we review the cutting-edge research based on mouse, hamster, ferret and non-human primate models for evaluating SARS-CoV-2 with a focus on the Omicron variant, and highlight the importance of updating vaccines in a timely manner in order to mitigate the negative effects of SARS-CoV-2 infections in the human population.

  • 标签: SARS-CoV-2 Animal models Variants of concern Omicron
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  • 简介:摘要:为更好地搞好工地试验室检测工作,合理利用PDCA循环程序,依托检测提供真实、准确的检测数据指导现场施工,认证工程质量;本文从两个层面分析PDCA循环在工地试验室应用,只有多循环的计划、实施、检查、处理,才能使工地试验室更好的运行,更能有效地体现工地试验室是为满足公路工程建设项目现场施工检测需要。

  • 标签: PDCA循环 工地试验室 高效 优质运行
  • 简介:摘要:近年来,互联网、大数据、云计算、人工智能、区块链等技术加速创新,越来越融入经济社会发展各个领域的全过程,数字经济发展速度快、辐射区域广、影响度深发挥海量数据分析能力和丰富多样的使用场景资源优势,积极推进数字技术与实体经济深度融合,助力传统工业企业转型升级,培育新兴产业新业态新模式,不断强化构建优秀数字经济。

  • 标签: 大数据 数字技术 转型
  • 简介:摘 要:近年来随着经济的快速发展,我国城市化水平随之越来越高,“城市看海”现象备受公众热议。工业是城市发展的重要组成部分,我国653个设市城市工业用地占比均值为16.84%。工业总图设计应顺随新兴趋势,通过“渗、滞、消、净、用、排”以及其他技术控制手段,减少城市发展和建设对生态环境的影响。本文基于海绵城市在工业总图设计中应用的实践经验,对具体案例进行分析,探究海绵城市的意义与措施。

  • 标签: 工业 总图设计 海绵城市 生态环境
  • 简介:AbstractThere is increasing evidence that cell-free DNA (cfDNA) in spent culture media (SCM) can be amplified for genetic testing. Therefore, this paper reviews the characteristics of cfDNA, including its fragment size, amount, origin, as well as some factors affecting the success rate of its amplification, together to provide researchers with a more comprehensive perspective on embryonic cfDNA. The origin of cfDNA in SCM is complicated and poses challenges to the interpretation of genetic test results. Advanced molecular techniques should distinguish between embryonic and contaminated DNA to maximize the success rate of amplification and analysis. Recent data showed that the type of culture medium, assisted hatching or not, the type of amplification kit, and fresh or thawed embryos were not related to the success rate of amplification, but the length of culture time might affect the success rate. The longer culture time, the more cfDNA is available in the SCM. Then we focused on the concordance between trophectoderm (TE), inner cell mass, whole embryo, and embryonic cfDNA. Despite successful amplification, the concordance between TE and embryonic cfDNA was low. In summary, non-invasive genetic testing using SCM could represent a major advance in future single embryo selection, however, contamination and timing for media collection are key factors affecting the results, and current non-invasive cfDNA testing should not be directly applied to clinical practice. Further research is needed to improve the methods used for testing techniques and genetic analysis to achieve greater accuracy and trace its origins before it can be used in the clinics.

  • 标签: Cell-free DNA Embryo culture medium Genomic DNA Non-invasive Pre-implantation genetic testing