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Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients

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Frontiers of Medicine 2023年第6期17卷 1236-1249页

作者： Xinyue Zhao Haijun Ge wenshuai xu Chongsheng Cheng Wangji Zhou Yan xu Junping Fan Yaping Liu Xinlun Tian Kai-Feng xu xue Zhang McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical SciencesChinese Academy of Medical Sciences&Peking Union Medical CollegeBejing 100005China Department of Pulmonary and Critical Care Medicine State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Sciences&PekingUnion Medical CollegeBeijing 100730China

Primary ciliary dyskinesia(PCD)is a highly heterogeneous recessive inherited disorder.FAP54,the homolog of CFAP54 in Chlamydomonas reinhardtii,was previously demonstrated as the C1d projection of the central microtubule apparatus of flagella.A Cfap54 knockout mouse model was then reported to have PCD-relevant phenotypes.Through whole-exome sequencing,compound heterozygous variants c.2649_2657delinC(p.E883Dfs*47)and c.7312_7313insCGCAGGCTGAATTCTTGG(p.T2438delinsTQAEFLA)in a new suspected PCD-relevant gene,CFAP54,were identified in an individual with PCD.Two missense variants,c.4112A>C(p.E1371A)and c.6559C>T(p.P2187S),in CFAP54 were detected in another unrelated patient.In this study,a minigene assay was conducted on the frameshift mutation showing a reduction in mRNA expression.In addition,a CFAP54 in-frame variant knock-in mouse model was established,which recapitulated the typical symptoms of PCD,including hydrocephalus,infertility,and mucus accumulation in nasal sinuses.Correspondingly,two missense variants were deleterious,with a dramatic reduction in mRNA abundance from bronchial tissue and sperm.The identification of PCD-causing variants of CFAP54 in two unrelated patients with PCD for the first time provides strong supportive evidence that CFAP54 is a new PCD-causing gene.This study further helps expand the disease-associated gene spectrum and improve genetic testing for PCD diagnosis in the future.

关键词： primary ciliary dyskinesia CFAP54 cilia

Novel mutation c.1210-3C>G in cis with a poly-T tract of 5T affects CFTR mRNA splicing in a Chinese patient with cystic fibrosis

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Frontiers of Medicine 2022年第1期16卷 150-155页

作者： Xinyue Zhao Keqiang Liu wenshuai xu Meng Xiao Qianli Zhang Jiaxing Song Keqi Chen Yaping Liu Xinlun Tian Kai-Feng xu xue Zhang McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical SciencesChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100005China Department of Pulmonary and Critical Care Medicine Peking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China

Cystic fibrosis(CF)is a rare autosomal recessive disease with only one pathogenic gene cystic fibrosis transmembrane conductance regulator(CFTR).To identify the potential pathogenic mutations in a Chinese patient with CF,we conducted Sanger sequencing on the genomic DNA of the patient and his parents and detected all 27 coding exons of CFTR and their flanking intronic regions.The patient is a compound heterozygote of c.2909G>A,p.Gly970Asp in exon 18 and c.1210-3C>G in cis with a poly-T of 5T(T5)sequence,3 bp upstream in intron 9.The splicing effect of c.1210-3C>G was verified via minigene assay in vitro,indicating that wild-type plasmid containing c.1210-3C together with T7 sequence produced a normal transcript and partial exon 10-skipping-transcript,whereas mutant plasmid containing c.1210-3G in cis with T5 sequence caused almost all mRNA to skip exon 10.Overall,c.1210-3C>G,the newly identified pathogenic mutation in our patient,in combination with T5 sequence in cis,affects the CFTR gene splicing and produces nearly no normal transcript in vitro.Moreover,this patient carries a p.Gly970Asp mutation,thus confirming the high-frequency of this mutation in Chinese patients with CF.

关键词： cystic fibrosis CFTR splicing mutation minigene

Characterization,reactivity,source apportionment,and potential source areas of ambient volatile organic compounds in a typical tropical city

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Journal of Environmental Sciences 2023年第1期123卷 417-429页

作者： Xiaocong Cao Qiao Xing Shanhu Hu wenshuai xu Rongfu Xie Aidan Xian Wenjing Xie Zhaohui Yang Xiaochen Wu Hainan Research Academy of Environmental Sciences Haikou 571126China National Pilot Zone for Ecological Conservation(Hainan)Research Center Haikou 571126China

Based on one-year observation,the concentration,sources,and potential source areas of volatile organic compounds(VOCs)were comprehensively analyzed to investigate the pollution characteristics of ambient VOCs in Haikou,China.The results showed that the annual average concentration of total VOCs(TVOCs)was 11.4 ppb V,and the composition was dominated by alkanes(8.2 ppb V,71.4%)and alkenes(1.3 ppb V,20.5%).The diurnal variation in the concentration of dominant VOC species showed a distinct bimodal distribution with peaks in the morning and evening.The greatest contribution to ozone formation potential(OFP)was made by alkenes(51.6%),followed by alkanes(27.2%).The concentrations of VOCs and nitrogen dioxide(NO_(2))in spring and summer were low,and it was difficult to generate high ozone(O_(3))concentrations through photochemical reactions.The significant increase in O_(3)concentrations in autumn and winter was mainly related to the transmission of pollutants from the northeast.Traffic sources(40.1%),industrial sources(19.4%),combustion sources(18.6%),solvent usage sources(15.5%)and plant sources(6.4%)were identified as major sources of VOCs through the positive matrix factorization(PMF)model.The southeastern coastal areas of China were identified as major potential source areas of VOCs through the potential source contribution function(PSCF)and concentration-weighted trajectory(CWT)models.Overall,the concentration of ambient VOCs in Haikou was strongly influenced by traffic sources and long-distance transport,and the control of VOCs emitted from vehicles should be strengthened to reduce the active species of ambient VOCs in Haikou,thereby reducing the generation of O_(3).

关键词： Volatile organic compounds(VOCs) Ozone Positive matrix factorization(PMF) model Backward trajectory Potential source area

Clinical characteristics in lymphangioleiomyomatosis-related pulmonary hypertension: an observation on 50 patients

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Frontiers of Medicine 2019年第2期13卷 259-266页

作者： Xiuxiu Wu wenshuai xu Jun Wang Xinlun Tian Zhuang Tian Kaifeng xu Department of Respiratory Medicine Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Cardiology Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China

Lymphangioleiomyomatosis (LAM) is a rare diffuse cystic lung disease. Knowledge on LAM-related pulmonary hypertension (PH) is limited. This study aimed to analyze the clinical characteristics of LAM with elevated pulmonary artery pressure (PAP) and evaluate the potential efficacy of sirolimus. The study involved 50 LAM patients who underwent echocardiography. According to the tricuspid regurgitation velocity (TRV), these patients were divided into the TRV≤2.8 m/s group and TRV>2.8 m/s group. Both groups comprised 25 females with an average age of 38.6±8.1 and 41.5±8.9 years. In the TRV>2.8 m/s group, the estimated systolic PAP (SPAP) was significantly elevated (52.08±12.45 mmHg vs. 30.24±5.25 mmHg, P<0.01). Linear analysis showed that SPAP was correlated with forced expiratory volume in 1 s (FEV1), diffusing capacity of the lungs for carbon monoxide, alveolar arterial oxygen gradient (PA-aO2), and 6 min walking distance (r =-0.392,-0.351, 0.450, and -0.591, respectively;P<0.05), in which PA-aO2 was a risk factor for SPAP elevation (β= 0.064, OR= 1.066, P<0.05). Moreover, in 10 patients who received sirolimus therapy, SPAP decreased from 57.0±12.6 mmHg to 35.2±11.1 mmHg. The study showed that LAM patients with PH exhibit poor pulmonary function and hypoxemia and may benefit from sirolimus treatment.

关键词： lymphangioleiomyomatosis pulmonary hypertension pulmonary function hypoxemia sirolimus

Clinical trials for the treatment of coronavirus disease 2019(COVID-19):A rapid response to urgent need

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Science China(Life Sciences) 2020年第5期63卷 774-776页

作者： Tengyue Zhang Yudi He wenshuai xu Aiping Ma Yanli Yang Kai-Feng xu Department of Internal Medicine Peking Union Medical College HospitalChinese Academy of Medical SciencesBeijing 100730China Department of Pulmonary and Critical Care Medicine Peking Union Medical College HospitalChinese Academy of Medical SciencesBeijing 100730China Department of Pulmonary and Critical Care Medicine The First Affiliated HospitalCollege of MedicineXiamen UniversityXiamen 361003China

Emerging coronavirus disease 2019,known as COVID-19,is caused by the newly identified SARS-CoV-2 virus.Since the outbreak of COVID-19 in December 2019 in Wuhan(China),more than 70 thousand patients were affected.The disease resulted in 1,870 deaths by February 18,2020,according to the National Health Commission of People's Republic of China(http://***).

关键词： Clinical treatment COV

新型冠状病毒感染患者核酸长期阳性的相关因素与核酸转阴的特点分析

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中华医学杂志 2024年第5期104卷 385-388页

作者：骆琼珍徐文帅高博李理牟向东清华大学临床医学院清华大学附属北京清华长庚医院呼吸与危重症医学科北京102218

分析新型冠状病毒感染患者核酸长期阳性的相关因素与核酸转阴特点。回顾性纳入2022年12月至2023年6月北京清华长庚医院住院的新型冠状病毒感染患者,选取新型冠状病毒核酸阳性时间≥30 d的患者为长阳组;以年龄、性别匹配的核酸阳性时间<3... 详细信息

分析新型冠状病毒感染患者核酸长期阳性的相关因素与核酸转阴特点。回顾性纳入2022年12月至2023年6月北京清华长庚医院住院的新型冠状病毒感染患者,选取新型冠状病毒核酸阳性时间≥30 d的患者为长阳组;以年龄、性别匹配的核酸阳性时间<30 d患者为对照组。收集所有纳入患者的临床资料,采用二分类logistic回归分析核酸阳性时间≥30 d的影响因素;采用Cox风险比例模型分析重症患者住院期间死亡的危险因素,比较组间上、下呼吸道核酸转阴时间的差别。长阳组共纳入30例,男24例,女6例,年龄[M(Q_(1),Q_(3))]为77(64,86)岁;对照组患者58例,男46例,女12例,年龄78(66,86)岁。移植状态(OR=50.32,95%CI:1.98~1278.63,P=0.018)、恶性肿瘤(OR=12.85,95%CI:1.65~99.88,P=0.015)、CD4^(+)T细胞计数(OR=0.99,95%CI:0.99~1.00,P=0.005)为核酸阳性时间≥30 d的相关因素。急性生理与慢性健康评分(APACHE)Ⅱ评分(HR=1.12,95%CI:1.03~1.22,P=0.012)、核酸阳性时间(HR=1.16,95%CI:1.01~1.33,P=0.031)为重症患者死亡的相关因素。两组下呼吸道标本核酸转阴时间均晚于上呼吸道标本(均P<0.001)。基础免疫低下是新型冠状病毒核酸长期阳性的相关因素,重症患者核酸长期阳性提示高死亡风险。下呼吸道标本核酸晚于上呼吸道标本核酸转阴。

关键词：冠状病毒感染核酸相关因素转阴

会计师事务所可持续发展业务的影响因素与对策——基于11家会计师事务所的调研访谈

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审计研究 2024年第1期 28-40页

作者：陈嵩洁薛爽张为国胥文帅上海财经大学会计学院 200433 上海财经大学会计与财务研究院 200433 清华大学经济管理学院

随着可持续发展理念的不断深化,如何兼顾商业价值和社会价值已成为每个企业的必答题。会计师事务所作为资本市场中重要的咨询与增信机构,在企业可持续转型、可持续信息披露与鉴证等方面发挥着重要作用。本文基于对11家会计师事务所共计4... 详细信息

随着可持续发展理念的不断深化,如何兼顾商业价值和社会价值已成为每个企业的必答题。会计师事务所作为资本市场中重要的咨询与增信机构,在企业可持续转型、可持续信息披露与鉴证等方面发挥着重要作用。本文基于对11家会计师事务所共计41名合伙人或高级经理调研访谈,在概述我国会计师事务所可持续发展业务现状和未来业务规划的基础上,深入分析了影响事务所可持续发展业务的外部和内部因素,包括可持续报告准则与鉴证准则制定、政府监管、客户需求等外部因素,以及事务所发展战略、开展可持续发展业务相对优劣势、能力建设、风险与成本等内部因素。最后,以上述讨论为基础,提出针对性的建议与对策,以期对可持续发展相关政策的制定、监管制度的设计以及会计师事务所的业务发展规划有所启示。

关键词：可持续发展信息披露鉴证会计师事务所

一次典型沙尘过程对我国热带地区空气质量影响分析

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环境科学学报 2024年第2期44卷 310-319页

作者：盛慧颜为军孟鑫鑫许杏红麦修齐徐文帅海南省生态环境监测中心海口571126

2023年3月中上旬,受北方地区沙尘天气的影响,位处我国热带地区的海南省大部分市县均出现颗粒物浓度骤然升高的现象.为进一步探究我国环境空气质量变化受沙尘天气的影响以及进行颗粒物远距离传输来源解析,本文利用常规大气污染物及气象数... 详细信息

2023年3月中上旬,受北方地区沙尘天气的影响,位处我国热带地区的海南省大部分市县均出现颗粒物浓度骤然升高的现象.为进一步探究我国环境空气质量变化受沙尘天气的影响以及进行颗粒物远距离传输来源解析,本文利用常规大气污染物及气象数据,结合海南边界点位颗粒物组分数据,运用后向轨迹分析、相关性分析等方法研究了此次沙尘过程对海南省环境空气质量的影响及来源分析.结果表明:(1)海南省全省范围内均受到此次沙尘天气不同程度的影响,浮尘由北向南扩散,PM_(10)浓度显著升高.(2)以海口市为例,受沙尘过程影响后,PM_(10)浓度出现明显上升,PM_(2.5)/PM_(10)比值迅速下降,O_(3)、CO、NO_(2)及SO_(2)浓度出现同步上升趋势.(3)沙尘过程造成PM_(10)中化学组分浓度整体升高,其中,硅、铝、硫、钙等地壳元素上升显著,硫元素受本地源及沙尘天气共同影响虽浓度增加但占比降低,氯元素等海盐粒子则与此次过程关系较小;相关性分析得出,铝、硅、钾、钙、锰、铁、铅、钛、锌、磷、硫元素与PM_(10)具有显著相关性,氯元素与大部分元素不具有相关性.本研究表明仍需关注沙尘过程远距离传输对我国热带地区空气质量造成的影响,也为海南省环境空气污染防治精细化治理及预警预报提供了理论依据.

关键词：沙尘海南省环境空气质量后向轨迹无机元素

One-Pot Synthesis of Dimethyl Carbonate over Basic Zeolite Catalysts

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Modern Research in Catalysis 2013年第2期2卷 22-27页

作者： wenshuai xu Shengrong Ji Wei Quan Jianqiang Yu Key Laboratory of New Fiber Materials and Modern Textile School of Chemistry Chemical Engineering and Environments Qingdao University Qingdao China

One-pot synthesis of dimethyl carbonate (DMC) from methanol, propylene oxide (PO) and carbon dioxide has been investigated using the basic zeolites as catalysts. Among the zeolites studied, Beta showed the best catalytic performance for DMC production. That the desilication of zeolite structure resulted in a hierarchical porosity of Beta, leading to more amount of KOH can be loaded on the surface of zeolite and therefore enhancing the base strength of the catalyst was proposed to be the reason for improved catalytic performance.

关键词： Dimethyl Carbonate Methanol Zeolite Basic Catalysts One-Pot Synthesis