基于文本挖掘和生物医学数据库的新型冠状病毒肺炎药物发现

目的 基于文本挖掘技术和生物医学数据库对新型冠状病毒肺炎（COVID-19）相关文献进行数据挖掘分析，探究COVID-19及其主要症状发热、咳嗽、呼吸障碍相关基因靶点，筛选潜在有效的化学药和中药。方法 使用GenCLiP 3网站获取COVID-19和其主要症状咳嗽、发热、呼吸障碍共4个关键词的共有靶点，在METASCAPE数据库中对其进行基因本体（GO）和通路富集分析，再利用String数据库和Cytoscape软件构建共有靶点的蛋白质相互作用网络，筛选获得核心基因，运用DGIdb数据库、SymMap数据库针对核心基因进行中西医治疗药物预测。结果 获得COVID-19及其主要症状共有基因靶点28个，其中有IL2、IL1B、CCL2等核心基因16个，使用DGIdb数据库筛选获得与16个关键靶点相互作用的化学药包括沙利度胺、来氟米特、环孢素等28种，中药包括虎杖、黄芪、芦荟等70味。结论 COVID-19及其主要症状的病理机制可能和CD4、KNG1、VEGFA等28个共有基因相关，可能通过介导TNF、IL-17等信号通路参与COVID-19病理过程。潜在有效药物可能通过作用相关靶点通路起到治疗COVID-19的作用。     

Obstructive Sleep Apnea and Type 2 Diabetes: A Screening Approach

Obstructive sleep apnea (OSA) is a sleep disorder common among patients with type 2 diabetes (T2D). The aim of this quality improvement project was to increase identification and referral for sleep study for individuals with T2D at moderate to high risk for OSA. Pre- and post-intervention patient samples were analyzed to compare the number of referrals for sleep study. Results demonstrated that none of the patients pre-intervention were referred for sleep study compared with 77% of patients post-intervention. This project demonstrated implementing an evidence-based tool to screen patients with T2D for OSA leads to higher rates of detection and referral.     

Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing

Microcephaly is a frequent feature of neurodevelopmental disorders (NDDs). Our study presents the heterogeneous spectrum of genetic disorders in patients with microcephaly either in isolated form or in association with other neurological and extra-neural abnormalities. We present data of 91 patients from 87 unrelated families referred to our clinic during 2016–2020 and provide a comprehensive clinical and genetic landscape in the studied cohort. Molecular diagnosis using exome sequencing was made in 45 families giving a yield of 51.7%. In 9 additional families probable causative variants were detected. We identified disease causing variations in 49 genes that are involved in different functional pathways Among these, 36 had an autosomal recessive pattern, 8 had an autosomal dominant pattern (all inherited de novo), and 5 had an X-linked pattern. In 41 probands where sequence variations in autosomal recessive genes were identified 31 were homozygotes (including 16 from non-consanguineous families). The study added 28 novel pathogenic/likely pathogenic variations. The study also calls attention to phenotypic variability and expansion in spectrum as well as uncovers genes where microcephaly is not reported previously or is a rare finding. We here report phenotypes associated with the genes for ultra-rare NDDs with microcephaly namely ATRIP, MINPP1, PNPLA8, AIMP2, ANKLE2, NCAPD2 and TRIT1.     

超声引导下关节腔内注射重组人Ⅱ型肿瘤坏死因子受体-抗体融合蛋白(益赛普)治疗血友病性关节病

目的 观察超声引导下关节腔内注射重组人Ⅱ型肿瘤坏死因子受体-抗体融合蛋白（益赛普）治疗血友病性关节病（HA）的价值。方法 回顾性分析32例接受超声引导下穿刺关节腔注射益赛普的HA患者，对比观察治疗前及治疗后1个月血友病关节健康评分（HJHS）、视觉模拟评分（VAS），以及超声所示目标关节增生滑膜厚度、血流信号、Melchiorre及中国早期血友病性关节病超声检测（HEAD-US-C）评分，评估其治疗价值。结果 对32例均成功完成超声引导下穿刺关节腔及腔内注射益赛普，共对18例膝关节、7例肘关节及7例踝关节进行治疗。术后未出现感染、出血等并发症。治疗后1个月，目标关节HJHS、VAS、Melchiorre评分、HEAD-US-C评分及增生滑膜最大厚度、平均厚度、血流信号均低于治疗前（P均<0.01）。结论 超声引导下关节腔内注射益赛普治疗HA安全、有效。     

双水平气道正压对OSAHS患者预后及血管内皮功能的影响

目的 分析双水平气道正压双水平气道正压通气(bi-level positive airway pressure,BiPAP)对阻塞性睡眠呼吸暂停低通气综合征(obstructive sleep apnea hypopnea syndrome,OSAHS)患者血管内皮功能及预后的影响。 方法 将100例OSAHS患者纳入研究，随机分为观察及对照组，各50例。观察组行BiPAP ，对照组行常规治疗，比较两组多导睡眠监测(polysomnography，PSG)检查指标（低通气指数、呼吸暂停指数、呼吸暂停及低通气时间、90%以下血氧饱和度次数、90%以下血氧饱和度时间）、心肺功能［脑钠肽(brainnatriureticpeptide,BNP)、右心室Tei指数、左心室Tei指数、一秒用力呼气容积占用力肺活量的百分比(forced expiratory volume in one second/forced vital capacity，FEV1/FVC)、一秒用力呼气容积占预计值的百分比(FEV1占预计值%)］、血管内皮功能［内皮素1(endothelin-1,ET-1)、一氧化氮(nitric oxide,NO)、凝血酶Ⅲ(antithrombin Ⅲ,AT-Ⅲ)］及生活质量。 结果 观察组低通气指数、呼吸暂停指数、呼吸暂停及低通气时间、90%以下血氧饱和度次数及时间指标均显著低于对照组（P＜0.05）。观察组治疗后BNP以及Tei指数显著低于治疗前及对照组治疗后，FEV1/FVC、FEV1占预计值%显著高于治疗前及对照组治疗后(P＜0.05)。观察组治疗后ET-1、AT-Ⅲ低于治疗前及对照组治疗后，NO高于治疗前及对照组治疗后（P＜0.05）。观察组治疗后生活质量各项目评分高于对照组（P＜0.05）。 结论 BiPAP治疗能够改善OSAHS患者的预后情况及血管内皮功能，效果确切。