A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1

ObjectiveWith this case report, we would like to highlight the importance of a multidisciplinary approach and atypical findings of congenital high airway obstruction sequence (CHAOS), anhydramnios, and renal dysgenesis in the prenatal diagnosis of Fraser syndrome (FS).Case reportA 25-year-old primigravida at 19 weeks of routine anomaly scan revealed abnormal sonographic findings such as fetal bilateral dysplastic small kidneys and gross oligohydramnios. The further detailed evaluation revealed that both fetal lungs were hyperechogenic with prominent (dilated) trachea and bronchi suggestive of CHAOS. Based on these findings, a diagnosis of FS was suspected. The couple was counseled and the pregnancy was terminated. The postmortem evaluation and novel homozygous variant in the FRAS1 gene confirmed the diagnosis of FS.ConclusionThe diagnosis and counseling of the patient were supported by a well-coordinated, multidisciplinary approach involving an obstetrician, a fetal medicine specialist, a medical geneticist, and a fetal pathologist.     

Dual-target inhibitors of bromodomain-containing protein 4 (BRD4) in cancer therapy: Current situation and future directions

Bromodomain-containing protein 4 (BRD4) is emerging as a therapeutic target that acts synergistically with other targets of small-molecule drugs in cancer. Therefore, the discovery of potential new dual-target inhibitors of BRD4 may be a promising strategy for cancer therapy. In this review, we highlight a series of strategies to design therapeutic dual-target inhibitors of BRD4 that focus on the synergistic functions of this protein. Drug combinations that exploit synthetic lethality, protein–protein interactions, functional complementarity, and blocking of resistance mechanisms could ultimately overcome the barriers inherent to the development of BRD4 inhibitors as future cancer drugs.     

Performance of the new FilmArray Blood Culture Identification 2 panel and its potential impact on clinical use in patients with Gram-negative bacteremia

IntroductionRapid diagnostic tests have been developed recently for rapid species or resistance genes identification, offering the potential to improve the selection of appropriate antibiotics. The newly developed FilmArray Blood Culture Identification 2 (BCID2) panel, which can identify more species and resistance genes, such as extended-spectrum beta-lactamase, is expected to make an impact on antimicrobial practice.MethodsThe consecutive 50 inpatients with Gram-negative bacilli bacteremia were enrolled to this retrospective single-center study. In addition to the existing FilmArray Blood Culture Identification (BCID) panel, we have implemented BCID2 panel for positive blood culture. The sensitivity and specificity of BCID and BCID2 panel were respectively calculated, and a simulation study of time to effective, optimal and de-escalation therapy was performed based on BCID or BCID2 result.ResultsA total of 52 Gram-negative organisms in 50 patients were identified from blood cultures. Of these, 45 (87%) organisms were detected by BCID2 panel, which was more than BCID panel (41 organisms, 79%). BCID2 panel detected 5 CTX-M genes, which were concordant with conventional method. The time to effective therapy did not differ between BCID arm and BCID2 arm; however, the median time to optimal therapy (34 h in BCID arm and 26 h in BCID2 arm, P = 0.0007) and the median time to de-escalation therapy (42 h in BCID arm and 22 h in BCID2 arm, P = 0.0005) were significantly shortened.ConclusionsThis simulation study of BCID2 panel showed high sensitivity and specificity, and the potential impact on shortening the time to optimal and de-escalation therapy.     

某高校大学生艾滋病主动检测意愿与影响因素

目的 了解青年学生艾滋病主动检测意愿的现状,提出促进青年学生主动检测意愿的建议,为进一步提高青年学生艾滋病检测意愿的策略和措施提供科学依据。方法 采用自编促进大学生HIV主动检测意愿调查问卷,用整群抽样方法抽取成都某高校778名在校大学进行问卷调查。结果 在被调查的778名大学生中,91.6%的学生有艾滋主动检测意愿,在不同年级(χ2=11.416,P=0.010)、认为自己感染艾滋病风险情况(χ2=18.615,P＜0.001)等因素上差异均有统计学意义。多因素 logistic 回归分析显示年级为大二或大三、认为自己艾滋病感染风险为非常低或比较低或一般(P均＜0.05)的青年学生更愿意进行艾滋病主动检测。结论 该高校大学生艾滋病主动检测意愿较高。应该结合该高校学生的特性,开展有针对性的艾滋病宣传教育活动,以此提高大学生HIV主动检测率。     

Identifying current uses of return to work screening tests and their effectiveness of reducing the risk of reinjury in athletic occupations – A systematic review

ObjectiveTo identify the current return-to-work (RTW) screening tests conducted for athletic occupations following injury and their effectiveness of reducing reinjury risk.MethodsA search was made of multiple databases (BioMed Central, CINAHL through ebscohost, EMBASE, Google Scholar, PUBMED, Scopus, SPORTDiscus and Web of Science) from their inception to March 2022, using relevant terms to identify articles meeting predefined inclusion/exclusion criteria. The search, data extraction, risk of bias, and evaluation of the certainty of the findings were completed independently by two authors. To understand the effectiveness of screening tests and their impact in reducing in reinjury rates, results were split into the following three time points: “Short-term” (≤1 year), “Medium-term” (≥2 years) and “Long-term” (≥3 years).ResultsFive studies (n = 507) met the inclusion criteria. There was a very low level of certainty for the effectiveness of screening tools reducing reinjury risk at short-term, medium-term and long-term follow ups. Only one study recorded a large effect in the reducing reinjury risk.ConclusionThe results demonstrated very low level of certainty for the effectiveness of screening tests reducing the risk of reinjury. A gap in our understanding currently exists for the effectiveness of RTW screening tests in tactical athletic occupations following injury and further research investigating is required.     

日本汉方药企业近十年申请专利的分析及思考——以津村制药和Kracie为例＊

目的 对日本医疗用汉方医药品和一般用汉方医药品市场占有率最大的企业日本津村制药公司和Kracie制药公司2008-2020年间申请的专利内容进行综述，为国内中药经典名方和保健食品研发、知识产权保护提供参考。方法 通过日本专利局的官方检索渠道J-PlatPat平台，检索日本津村制药公司和Kracie制药公司在2008年至2020年间申请的专利，并进行专利布局和技术内容分析。结果 共收集43项日本津村制药公司特许和实用新案专利，其围绕汉方制剂产品全过程质量控制构建了坚实的专利技术体系；共收集52项Kracie制药公司特许和实用新案专利，其致力于功能性制剂和组合物的开发，重点在生活改善、老龄化和癌症等领域进行专利布局，还创建了多种产品功效和功能的客观评价方法。结论 津村制药近十年专利布局提示在中药现代化制造和走向国际的过程中，应把提高品质作为主攻方向，树立持续质量改进理念，完善产品有效性证据链。Kracie制药公司践行的以人为中心的汉方药设计理念，以及精准满足消费者健康需求的研发模式值得借鉴。