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葛根芩连汤作为一种传统中药复方,在治疗代谢性疾病方面展现出显著的疗效。随着中草药现代研究方法的进步,逐渐揭示了葛根芩连汤在代谢性疾病中的治疗作用及其分子机制,包括葛根素、黄芩苷、小檗碱等活性成分的抗炎作用。然而,中草药研究领域的新理论和新机制被不断发现,如影响肠道菌群、产生植物外囊泡、中药汤剂成分自组装等,使得对葛根芩连汤作用机制的理解亟待更新。本文旨在综述葛根芩连汤在代谢性疾病中的作用及机制,并结合最新的研究成果,重点分析其在肠道菌群、植物外囊泡和中药自组装领域的相关发现,探讨其潜在的治疗靶点和未来研究方向,为临床应用和基础研究提供指导。
Gegen Qinlian decoction(GQD),as a traditional Chinese herbal formula,has demonstrated significant efficacy in treating metabolic diseases.With advancements in modern research methodologies for Chinese herbal medicine,the therapeutic effects and molecular mechanisms of GQD in metabolic diseases have been progressively uncovered,including the anti-inflammatory properties of its active components such as puerarin,baicalin,and berberine.However,emerging theories and mechanisms in the field of herbal research,such as modulation of gut microbiota,production of plant-derived extracellular vesicles,and self-assembly of components in herbal decoctions,continuously refine our understanding,highlighting the need to update insights into GQD’s mechanisms of action.This review aims to summarize the roles and mechanisms of GQD in metabolic diseases,integrating the latest research progress with a focus on findings related to gut microbiota,plant-derived extracellular vesicles,and self-assembly phenomena.It further seeks to explore potential therapeutic targets and future research directions,thereby providing guidance for clinical applications and fundamental studies.
目的 分析串联质谱技术筛查高危新生儿遗传代谢性疾病的价值。方法 于2023年1月—2024年3月,选择入住本院新生儿科的995例高危新生儿作为研究对象,采用串联质谱技术进行筛查,对筛查结果进行分析。结果 本研究期内995例新生儿初筛查阳性83例,最终确诊5例,假阳性78例,真阴性912例,阳性率8.34%(83/995),真阳性率6.02%(5/83)。确诊病例包括尿素循环障碍及高氨血症4例(其中2例经全外显子组核心家系测序分析确诊鸟氨酸氨甲酰转移酶缺乏症,基因变异来源为新发),枫糖尿症1例(基因确诊,变异来源为父亲及母亲)。结论 在高危新生儿遗传代谢疾病的筛查中,运用串联质谱技术进行筛查,及时有效进行专项检查,早期诊断遗传代谢性疾病,及时控制病情进展,降低死亡率和致残率,从而提高人口素质及生存质量,同时,对遗传代谢病的高危家庭开展咨询,指导优生优育。
Objective To analyze the value of tandem mass spectrometry in screening genetic metabolic diseases in high-risk neonates.Methods From January 2023 to March 2024,a total of 995 high-risk neonates admitted to the neonatal department of our hospital were selected as the research subjects,tandem mass spectrometry was used for screening,and the screening results were analyzed.Results During the study period,83 of the 995 neonates were positive in the initial screening,5 cases were finally confirmed,78 cases were false positives,and 912 cases were true negatives,with a positive rate of 8.34%(83/995)and a true positive rate of 6.02%(5/83).The confirmed cases included 4 cases of urea cycle disorder and hyperammonemia(2 cases were confirmed with ornithine carbamyltransferase deficiency by whole exome core family sequencing analysis,and the source of the gene variant was de novo),and 1 case of maple syrup urine disease(genetic diagnosis,the source of the mutation was father and mother).Conclusions In the screening of genetic metabolic diseases in high-risk neonates,the use of special examinations in tandem mass spectrometry can timely and effectively diagnosis genetic metabolic diseases,therefore timely control the progression of disease and reduce mortality and disability rates,consequently improve the quality of population and life.At the same time,we can provide guidance for good birth and good parenting by carrying out consultation to high-risk genetic metabolic diseases families.