Future directions in managing aniridia-associated keratopathy

Congenital aniridia is a panocular disorder that is typically characterized by iris hypoplasia and aniridia-associated keratopathy (AAK). AAK results in the progressive loss of corneal transparency and thereby loss of vision. Currently, there is no approved therapy to delay or prevent its progression, and clinical management is challenging because of phenotypic variability and high risk of complications after interventions; however, new insights into the molecular pathogenesis of AAK may help improve its management. Here, we review the current understanding about the pathogenesis and management of AAK. We highlight the biological mechanisms involved in AAK development with the aim to develop future treatment options, including surgical, pharmacological, cell therapies, and gene therapies.     

p53基因突变与骨髓增殖性肿瘤临床特征及预后关系

探究p53 基因突变与骨髓增殖性肿瘤（MPN）临床特征及预后的关系。方法 选取2017年1月～2020年1月本院收治的MPN患者126例，二代测序法检测患者p53 基因突变情况。对患者进行随访，统计患者总生存（OS）时间和累计生存率；分析p53 基因突变对患者临床特征、预后的影响。结果 126例MPN患者中12例（9.52%）检出p53基因突变，突变主要位于4~8号外显子上，不同类型患者的p53 基因突变检出率比较差异无统计学意义（P＞0.05）。p53突变组患者年龄大于p53 非突变组，WBC水平低于p53 非突变组（P＜0.05），两组患者的染色体核型、IPSS预后分层比较差异无统计学意义（P＞0.05）；p53 非突变组患者的OS时间、累计生存率均明显高于p53突变组患者（P＜0.05）。结论 MPN患者p53 基因突变发生率较高，与患者年龄、WBC水平、异常核型及IPSS预后分层相关，p53 基因突变会影响患者的预后，可作为临床筛查预后不良高风险人群的客观指标。     

Left ventricular noncompaction associated with a pathogenic mutation in the MYH7 gene: Known mutation,different phenotype

Left ventricular noncompaction (LVNC) is a genetically heterogeneous cardiomyopathy, with familial and sporadic forms, but genetic testing only identifies a pathogenic mutation in a minority of cases. The main complications are heart failure, embolism and dysrhythmias. Herein we report a familial case of LVNC associated with a mutation in the MYH7 gene and review the literature regarding controversies in LVNC. A 50-year-old woman was referred to the cardiology clinic for palpitations. She underwent echocardiography and cardiac magnetic resonance imaging that revealed mild left ventricular systolic dysfunction and LVNC criteria. She had several episodes of non-sustained ventricular tachycardia and received an implantable cardioverter-defibrillator (ICD). Genetic testing revealed the c.1003G>C (p.Ala335Pro) mutation in the MYH7 gene. Familial screening showed clear genotype-phenotype cosegregation, which provided strong evidence for the pathogenic role of this mutation. To the best of our knowledge, this is the first report of LVNC associated with the p.Ala335Pro mutation in the MYH7 gene. This mutation has been described in hypertrophic cardiomyopathy, suggesting that the same pathogenic sarcomere mutation may be associated with different cardiomyopathies. This case also highlights the current difficulties regarding decisions on ICD implantation for primary prevention of sudden cardiac death in LVNC.     

基于LDA模型的中医药人工智能领域主题演化分析＊

目的 梳理总结中医药人工智能领域近40年的研究情况，分析该领域研究主题演化过程，发现热点主题和研究前沿。方法 本研究检索了CNKI和WOS中中医药人工智能领域的文献，根据生命周期理论划分不同时间片，将文献摘要作为研究对象，采用LDA主题模型挖掘文本主题，分析主题的演化过程，识别热点主题。结果 纳入中英文文献2750篇，根据生命周期理论划分中医药人工智能领域发展阶段，分别建立全局和各阶段的LDA模型，挖掘出全局热点主题有中医专家系统、中医辅助诊断系统、中医药数据挖掘等，发现主题演化路径并进行可视化展示。结论 中医药与人工智能主要的结合点在中医智能系统、中医药知识组织和中医智能诊疗机器人这3方面，这3个方向的研究均离不开神经网络技术的支持，同时也结合了关联规则发现、复杂网络研究等方法。     

菊花脑芳樟醇合酶基因CnTPS1的克隆与原核表达分析＊

目的 克隆菊花脑芳樟醇合酶基因CnTPS1的全长编码序列，利用原核系统表达融合蛋白，为进一步研究该基因在菊花脑萜类合成中的功能提供理论依据。方法 以菊花脑基因组数据为基础，设计特异性引物，PCR扩增CnTPS1的全长编码序列，利用生物信息学分析软件分析序列特征。利用qRT-PCR技术分析CnTPS1基因在不同组织中的基因表达量。构建原核表达载体，体外诱导目的蛋白表达。结果 CnTPS1编码序列全长1749bp，编码582个氨基酸；基因表达模式分析表明该基因在茎和管状花中表达量较高；原核表达系统能诱导出67.58kDa大小的蛋白。结论 首次从菊花脑中克隆得到一个芳樟醇合酶基因CnTPS1，运用生物信息学方法对其编码蛋白的理化性质、结构特征等进行了分析预测，分析了该基因的组织表达模式，并在原核表达系统中成功诱导表达出目标蛋白，这些结果将为菊花脑萜类合酶基因的功能以及萜类物质生物合成途径的解析提供理论依据。     

The evo-devo origins of the nasopharynx

The process by which upper respiratory tract structures have changed over deep evolutionary time is, in part, reflected in the process of embryologic development. The nasopharynx in particular is a centrally located space bounded by components of the respiratory portion of the nasal cavity, cranial base, soft palate, and Eustachian tube. The development of these components can be understood both in terms of embryologic structures such as the branchial arches and paraxial mesoderm and through fossil evidence dating as far back as the earliest agnathan fish of the Cambrian Period. Understanding both the evolution and development of these structures has been an immeasurable benefit to the otolaryngologist seeking to model disease etiology of both common and rare conditions. This discussion is a primer for those who may be unfamiliar with the central importance of the nasopharynx both in terms of our evolutionary history and early embryological development of vital cranial and upper respiratory tract structures.     

冠状病毒特征与进化优势

冠状病毒是近年来新发突发传染病的重要来源,因家族成员庞大、宿主谱广、突变株多样,在进化中展示了其优越性。本文通过回顾冠状病毒基因组特征、感染宿主动物与受体分布及基因突变等方面的研究进展,对其在进化和传播中存在的优势进行总结和讨论,以期引起对相关病毒防控的重视。