COX20基因变异线粒体复合物Ⅳ缺乏症相关的遗传性周围神经病4例病例系列报告及文献复习

背景：原发性线粒体病具有高度的临床和遗传异质性，其中周围神经是线粒体病的常见受累器官之一。 目的：总结COX20基因变异相关周围神经病的临床表型及遗传学特征。 设计：病例系列报告。 方法：回顾性收集2018年5月至2020年5月复旦大学附属儿科医院诊治的COX20基因变异相关周围神经病患儿的临床资料，总结其临床表现、基因检测结果及治疗效果，并以“COX20”、“线粒体复合物Ⅳ缺乏症（Complex Ⅳ deficiency）”为关键词检索中英文数据库。检索时间均为从建库至2021年12月。总结已报道COX20基因变异与临床表型的关系。 主要结局指标：临床表型和COX20基因变异位点。 结果：4例患儿纳入分析，男、女各2例，其中3例自幼运动发育落后。4例均在儿童期起病，均以行走不稳为首发症状。肌电图均提示多发性周围神经损害改变，感觉神经轴索受累为主。4例患儿均携带COX20基因复合杂合变异，包括错义变异2个，无义变异和移码变异各1个，其中移码变异c.262delG(p.E88Kfs*35)尚未见报道。文献复习目前共报道COX基因变异18个家系22例患儿（包括本文病例）,起病中位年龄为5（1.0~17）岁，22例均以行走困难或步态不稳起病，11例（50.0%）有精神运动发育迟滞，病程中14例(63.6%)出现构音障碍，14例(63.6%)出现肌力下降和/或足部畸形，8例（36.4%）出现共济失调，6例(27.3%)出现肌张力障碍，5例（22.7%）存在认知倒退等。21例患儿行神经传导及肌电图检查，19例(90.5%)提示多发性周围神经病变。头颅（18例）及脊髓（10例）MR检查提示，脊髓萎缩4例（40%），小脑萎缩4例（22.2%）。9例患儿已无法独立行走，丧失独立行走能力中位年龄为10（7~21）岁。目前共报道9个变异位点，4种变异类型，其中错义变异5个，剪切变异2个，无义变异和移码变异各1个。 结论：COX20基因变异患者多早期起病，以周围神经系统病变为主要表现，可合并构音障碍、共济失调、肌张力障碍、认知倒退等，病情逐渐进展，致残率高。COX20基因变异类型以错义变异最常见。     

The potential role of assisted oocyte activation in the management of a POSEIDON group 3 patient with fertilization failure: A case report and literature review

ObjectiveAssisted oocyte activation combined with ICSI (ICSI-AOA) has been reported to improve fertilization outcomes of couples with oocyte activation deficiency (OAD). Although there's no sufficient evidence to support ICSI-AOA as routine use, it might be beneficial for POSEIDON group 3 patients with suspected oocyte-related OAD.Case reportA 29-year-old female presented with a history of primary infertility for two years. She was classified as a POSEIDON group 3 patient and had a total fertilization failure history. With the help of ICSI-AOA, six oocytes were successfully fertilized. Pregnancy was later confirmed after embryo transfer. A living infant was born after 34 weeks of pregnancy.ConclusionOAD should be taken into consideration for POSEIDON group 3 patients since low Antimüllerian hormone is associated decreased quality. Further research needs to be done to understand the mechanism underlying oocyte-related OAD and the potential role of ICSI-AOA in young patients with suboptimal ovarian response.     

基于CiteSpace的中医体质辨识研究可视化计量分析＊

目的 以“中医体质辨识”为主题开展系统的可视化分析，探索中医体质辨识领域的发展现状、研究热点、发展趋势，为后续研究提供借鉴。方法 以中国知网（CNKI）数据库为数据源检索相关文献，并将所得数据文件导入CiteSpace软件，对作者、机构和关键词进行共现分析并得到相关知识图谱。结果 共纳入1099篇文献，通过CiteSpace共现分析找到中医体质辨识领域研究的高产机构、具有代表性的研究者以及高频关键词。研究发现各个研究者及机构缺乏沟通合作，研究热点主题有体质研究、治未病、健康管理、与现代生物医学相结合。结论 中医体质辨识领域的研究逐年增加，知识图谱揭示了中医体质辨识在健康管理、与现代生物医学相结合将是未来的研究趋势。     

基于心冲击信号的心率检测方法

针对现有基于心冲击描记图进行心率检测存在的抗干扰性不足问题，提出一种鲁棒的心率检测模型，首先对原始信号中受干扰的片段进行补偿重构，然后将J峰作为特征波形，通过基于J峰频段的滤波与差分增强处理放大特征，并设计改进的峰值提取算法定位心跳点，进而得到心率估计值。实验结果表明，所用模型对于不同情形下的心冲击描记图信号均表现出良好的适应性，逐拍检测平均覆盖率为98.3%，平均准确率为98.4%。心率输出结果与金标准一致性高，误差范围控制在[±]5%以内，且运算实时性好，可以为临床或家庭保健提供良好的心率检测方案。     

Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype

BackgroundAromatic L-amino acid decarboxylase (AADC) deficiency, caused by a pathogenic variant in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disorder in which catecholamine and serotonin are not synthesized. From a large number of reports, it has been recognized that most affected patients show severe developmental delay in a bedridden state and are unable to speak. On the other hand, patients with a mild phenotype with AADC deficiency have been reported, but they number only a few cases. Therefore, the variation of phenotypes of the disease appears to be broad, and it may be challenging to diagnose an atypical phenotype as AADC deficiency.Case reportWe report novel compound heterozygous variants in DDC (c.202G > A and c.254C > T) in two sisters, whose main complaint was mild developmental delay, by whole-exome sequencing (WES). Additionally, we describe their clinical features and provide an image that shows the variants located at different sites responsible for the catalysis of AADC in a three-dimensional structure. The patients were prescribed a Monoamine oxidase (MAO) inhibitor after diagnosis.InterpretationOur cases indicate that a comprehensive genomic approach helps to diagnose AADC deficiency with atypical features, and underscore the significance of understanding the variations of this disorder for diagnosis and appropriate treatment.     

《针灸大成》关于气海穴临床应用的文献研究

目的:通过检索《针灸大成》中与气海穴治疗作用相关的文献条文,总结气海穴在治疗各系统疾病中运用频次较高的疾病及其配穴规律,为临床针灸对气海穴的使用提供理论支持。方法:以《中华医典》(第五版)中《针灸大成》作为文献检索来源,将气海穴及气海穴的别称“脖胦”“下肓”“丹田”“肓之原”“肓原”“下言”和“气泽”为检索词,用计算机检索工具及人工检索相结合的方法检索符合要求的文献条文,通过建立本研究的数据库,频次分析、条形统计图比较分析等方法,总结出气海穴在治疗各系统疾病中的运用频次及其配穴规律。结果:在《针灸大成》所涉及的条文中,气海穴尤善治疗内科疾病,在治疗内科疾病中排名前3位的是脾胃系病症、气血津液疾病、肾系病症和妇科疾病,气海穴配穴习惯为上下配穴法,同名经配穴法,以及前后配穴法,其中主要为前后配穴法和同名经配穴法。结论:气海穴《针灸大成》中单穴应用占比最高,而在气海穴众多配穴中,运用了本经配穴法、上下配穴法、前后配穴法,配穴归经主要来自任脉和足太阳膀胱经。同名经配穴法,同气相求,可增加疗效;与气海穴配伍较多的足太阳膀胱经以背腧穴为主,此为前后配穴法,亦称腹背阴阳配穴法,腹部为阴,腰背为阳,前后配穴法可起到“从阳引阴”亦可“从阴引阳”的作用,以达到调节阴阳,调和脏法,调畅经络的目的。