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根据美国国家胆固醇教育计划成人组第三次报告NECP-ATPⅢ会议定义,当男性年龄<55岁,女性年龄<65岁诊断为冠状动脉粥样硬化性心脏病(冠心病)时即为早发冠心病(pCAD)。作为冠心病的特殊类型之一,pCAD发生多伴明显家族史。近年来随着早发冠心病患者人数呈明显上升趋势,且单核苷酸多态性(SNP)研究和全基因组关联研究的迅速发展,与早发冠心病相关的基因多态性研究成为热点。笔者利用多个文献数据库检索国内外相关文献,对近年早发冠心病的基因多态性研究进展予以综述,并尝试归纳总结出新的重点研究方向。
According to the third meeting of the Adult Education Group of the Cholesterol Education Program of the United States(NECP-ATPⅢ),premature coronary artery disease(pCAD)is a disease diagnosed in men <55 years old and women <65 years old,which is a special form of CAD with multiple obvious family history.In recent years,with the increasing number of patients with pCAD,and the rapid development of single nucleotide polymorphism(SNP)and genome-wide association studies,the study of gene polymorphism related to premature coronary artery disease has become a hot topic.Several database were searched to collect relevant literature at home and abroad,and the research progress of gene polymorphism of premature coronary artery disease in recent years was summarized,and tried to provide new key research directions.
炎症性肠病(IBD)是一种以反复腹痛、腹泻、血便和体重降低为主要表现的慢性特发性性疾病,主要分为溃疡性结肠炎与克罗恩病两种类型。近年来,IBD的患病率随着城市化和工业化进展迅速升高,给中国和全球的公共健康带来沉重的负担。随着人类基因组技术的发展,越来越多的证据表明,遗传学因素在IBD发病过程中起着不可或缺的作用。在亚欧人群中,通过大规模全基因组关联研究现已明确了320个IBD易感基因位点。IBD易感基因在影响机体的细胞代谢、免疫功能调节、肠道上皮屏障和微生物清除等多个方面发挥着重要作用。本文就IBD相关易感基因及其多态性的研究进展进行综述,从基因层面揭示IBD发病的分子机制,并对探索IBD因人而异的个性化治疗方案提供帮助。
Inflammatory bowel disease(IBD)is a chronic idiopathic disease characterized by recurrent abdominal pain,diarrhea,bloody stools,and weight loss.Ulcerative colitis and Crohn’s disease represent the two main types of IBD.In recent years,the prevalence of IBD has increased rapidly with the advancement of industrialization,imposing a heavy burden on public health in China and globally.Currently,with the development of genomics,a growing body of evidence suggests that genetic factors play an indispensable role in the pathogenesis of IBD.In the Eurasian population,320 IBD susceptibility gene loci have been identified through large-scale genome-wide association studies.IBD susceptibility genes play a crucial role in various aspects affecting cellular metabolism,immune function regulation,intestinal epithelial barrier,and microbial clearance.This article reviews the susceptibility genes and their polymorphisms associated with IBD,revealing the molecule mechanisms of IBD from gene perspectives and contributing to the development of personalized treatment strategies tailored to individual IBD patients.
结直肠癌(CRC)是全球第三大最常见的癌症,也是癌症相关死亡的第二大常见原因。结直肠癌肝转移(CRLM)是导致CRC患者死亡的主要原因,根治性肝切除术是目前有望治愈CRLM的唯一途径,但大部分患者不能进行根治性肝切除术。通过早期发现并进行针对性干预,能够改善患者的治疗效果及预后。文章通过综述CRLM的发病机制、诊疗现状及最新纳米诊疗方法,为深入探索高效诊疗方法提供思路。
Colorectal cancer(CRC)is the third most common cancer and the second most common cause of cancer-related death worldwide.Colorectal cancer liver metastases(CRLM)are the leading cause of death in patients with CRC.Radical hepatectomy is the only way to cure CRLM so far,while most patients cannot undergo radical hepatectomy.CRLM treatment efficacy and prognosis can be improved by early diagnosis and specialized intervention.This paper reviews the pathogenesis,diagnosis,and treatment status of CRLM and the latest nano-diagnosis and treatment methods so as to provide ideas for in-depth exploration of efficient diagnosis and treatment methods.
急性胰腺炎(AP)是一种常见的消化系统急症。随着生活水平的提高,其重症发病率也逐年增加。中西医结合治疗急性胰腺炎在临床实践中展现出优势。近年来,大柴胡汤合大承气汤在治疗急性胰腺炎方面药理机制的研究不断延伸,同时对方药中的药理活性成分也在不断深入研究。该文旨在整理相关研究,综述大柴胡汤合大承气汤治疗急性胰腺炎的理论基础、临床应用、药物活性成分、药理机制等,以期为临床实践和进一步深入研究提供参考。
Acute pancreatitis(AP)is a common gastrointestinal emergency.With the improvement of living standards,the incidence of severe AP has been increasing year by year.The combined treatment of traditional Chinese and Western medicine has shown advantages in the clinical practice of acute pancreatitis.In recent years,the pharmacological mechanism of Dachaihu Decoction combined with Dachengqi Decoction in the treatment of acute pancreatitis has been continuously studied,and the pharmacological active components in the prescription are also being explored.This article aims to summarize relevant research on the theoretical basis,clinical application,active ingredients and pharmacological mechanism of Dachaihu Decoction combined with Dachengqi Decoction in the treatment of acute pancreatitis,providing reference for clinical practice and further research.
胰源性门静脉高压(PSPH)是由脾静脉(SV)流通受阻引起的一种临床综合征,在临床较为罕见且对患者造成生命威胁,但却为门静脉高压唯一可治愈的类型。其主要发病诱因是胰腺原发疾病,通常为胰腺急(慢)性炎症、胰腺占位性病变和胰腺手术操作导致。1型孤立性食管胃底静脉曲张、脾大、脾功能亢进是PSPH的主要临床表现特征,其中食管胃底曲张静脉破裂出血是PSPH最为严重的并发症;患者若表现为肝功能正常但出现原因不明脾肿大并伴有消化道出血症状,应考虑可能出现了PSPH。PSPH的治疗可分为胰腺原发病、门静脉高压及并发症的综合性诊治。本文旨在回顾PSPH的相关文献,对其有关临床诊断与治疗现状进行综述,以期指导医务工作者在临床中尽早发现PSPH并对患者及时有效治疗。
Pancreatic segmental portal hypertension(PSPH)is a clinical syndrome caused by spleen vein(SV)occlusion or stenosis.It is a rare and life-threatening hemorrhagic disease of the upper digestive tract,but it is the only curable type of portal hypertension.The main cause is primary pancreatic disease,which is usually due to acute or chronic pancreatic inflammation,pancreatic space-occupying lesions and pancreatic surgery.Type 1 isolated esophagogastric varices,splenomegaly and hypersplenism are the main clinical features of PSPH,and esophagogastric variceal bleeding is the most serious complication of PSPH.PSPH should be considered in patients with normal liver function but unexplained splenomegaly accompanied by gastrointestinal bleeding.The treatment of PSPH can be divided into a comprehensive diagnosis and treatment of primary pancreatic disease,portal hypertension and complications.Therefore,the purpose of this paper is to review relevant literature of PSPH,the relevant clinical diagnosis and treatment status quo were summerized,in order to guide the medical workers in clinical PSPH,early detection and timely and effective treatment for patients.
实体瘤对免疫治疗应答非常有限,因此,如何有效提升肿瘤免疫治疗的疗效,已成为当前肿瘤免疫治疗领域亟待解决的关键难题与挑战。髓系来源抑制性细胞(MDSCs)的趋化募集及其所介导的肿瘤免疫逃逸机制,是制约实体瘤免疫治疗效果的核心因素之一。文章深入探讨了MDSCs的起源、表型特征、其介导肿瘤免疫逃逸的具体机制,以及当前针对MDSCs的靶向治疗策略与将MDSCs靶向疗法与肿瘤免疫治疗相结合的最新研究进展。此外,文章还系统性地分析了靶向MDSCs联合免疫治疗策略所面临的关键挑战,并据此提出了MDSCs的精准靶向策略。这一策略旨在精确激活抗肿瘤免疫反应,为癌症患者提供更为个性化、高效的治疗方案,从而开启肿瘤免疫治疗领域的新纪元,为癌症治疗策略的创新与发展贡献力量。
Solid tumors exhibit a very limited response to immunotherapy.Consequently,effectively enhancing the therapeutic efficacy of tumor immunotherapy has emerged as a critical challenge and problem that urgently needs to be addressed in tumor immunotherapy.The chemotaxis and recruitment of myeloid-derived suppressor cells(MDSCs)and the tumor immune evasionmechanisms mediated by them are one of the core factors that significantly restrict the efficacy of immunotherapy for solid tumors.In this review,we discuss the origins and phenotypic characteristics of MDSCs,the specific mechanisms by which they mediate tumor immune evasion,as well as current targeted therapeuticstrategies for MDSCs and the latest research progress in combining MDSC-targeted therapy with tumor immunotherapy.Furthermore,we have systematically analyzed the key challenges faced by the combination of MDSC-targeted and immunotherapy strategies,and accordingly proposed a precise targeting strategyfor MDSCs.This strategy aims to precisely activate anti-tumor immune responses,providing more personalized and efficienttreatment options for cancer patients,thereby opening a new era in tumor immunotherapy and contributing to the innovation anddevelopment of cancer treatment strategies.
CCAAT增强子结合蛋白A(CEBPA)是调节血液发育过程中髓系分化和造血干祖细胞活性的关键转录因子之一。CEBPA基因突变常见于急性髓系白血病(AML)中,最近研究表明CEBPA bZIP框内单位点和经典双等位基因突变AML患者均具有类似的临床特征,已被单独划分为AML亚群。CEBPA bZIP框内突变而非传统的双等位CEBPA基因突变成为AML良好预后的分子指标,表明其在AML疾病进展和治疗预后中的重要性和特殊性。本文将从CEBPA蛋白在血液系统中的功能、CEBPA bZIP框内突变AML的临床特征与分子作用机制、以及伴CEBPA突变AML的治疗现状等方面进行综述,为进一步研究CEBPA bZIP框内突变在AML中的致病性和精准治疗新药物开发提供参考。
CAAT enhancer-binding protein A(CEBPA)is one of the key transcription factors regulating myeloid differentiation and hematopoietic stem/progenitor cell maintenance during hematopoiesis.CEBPA gene mutations are commonly found in acute myeloid leukemia(AML).Recent studies have demonstrated that AML patients haboring single CEBPA bZIP in-frame mutations or classical bi-allelic CEBPA mutations show similar clinical features and it has been individually classified as AML subgroup.Additionally,it is CEBPA bZIP in-frame mutations rather than the traditional biallelic CEBPA mutations that have emerged as a molecular indicator of favorable prognosis for clinical AML management,suggesting its importance and specificity in AML disease progression and therapeutic prognosis.Here,we reviewed serval aspects including the hematopoietic function of CEBPA protein,the clinical features and molecular mechanisms of AML with CEBPA bZIP in-frame mutations,and the current status of the treatment of AML with CEBPA mutations,which will provide a reference for further study of the pathogenicity of CEBPA bZIP in-frame mutations in AML and the development of new drugs for precision therapy.
药源性心脏毒性是临床常见的药物不良反应,是药物研发和临床治疗需面临的严峻考验。对药源性心脏毒性的评价是目前研究的重点,基于其机制复杂多样、临床表现不一、影响因素多,早期评价具有困难。生物标志物是评价心脏毒性的重要指标之一,文章总结了目前已经报道的多种心脏毒性标志物及其潜在的生物标志物,希望能从中找到特异性强、敏感性高的标志物,以贡献于药物心脏安全性评价工作。
As a common clinical adverse reaction,pharmacogenic cardiotoxicity is a severe challenge for drug development and clinical treatment.The evaluation of pharmacogenic cardiotoxicity is the focus of current research,and early evaluation is difficult with its complex and diverse mechanisms,varying clinical manifestations,and numerous influencing factors.Biomarker is an important index to evaluate cardiotoxicity.This article summarizes a variety of cardiotoxicity biomarkers and other potential biomarkers that have been reported so far,hoping to find biomarkers with strong specificity and high sensitivity,so as tocontribute to the evaluation on cardiac safety of drugs.
近视是一种常见的屈光不正状态,也是全球范围内普遍存在的视觉健康问题,其特征是在眼部调节放松的状态下,平行光线经眼的屈光系统折射后聚焦在视网膜前,导致视远模糊。近视通常在儿童期发生和发展,但在成年期仍可继续发生和发展。本综述对已发表的关于成年人近视发生和进展的文献进行总结,描述成年人近视的流行病学特征,包括近视率、近视发病率、近视进展率及其近视特征(屈光度及眼轴),总结成年人近视发病和进展的危险因素。了解成年人近视的发展特点和管理方式对于近视防控实践具有重要意义。
Myopia is a common refractive error and a universal visual health problem in the world. It is characterized by the fact that parallel light rays refract through the refractive system of the eye and focus in front of the retina when the eye accommodatior is relaxed, resulting in distant blurred vision. Myopia usually occurs and develops in childhood, but can continue to occur and develop in adulthood. This review summarizes the published literature on the occurrence and progression of myopia in adults, describes the epidemiological characteristics of myopia in adults, including myopia rate, myopia incidence rate, myopia progression rate, and myopia characteristics(diopter and ocular axis) ; and summarizes the risk factors for the occurrence and progression of myopia in adults. Understanding the developmental characteristics and management methods of adult myopia is of great significance for myopia prevention and control practice.
近几十年来,全球近视患病率不断上升,已成为全世界主要的公共卫生问题之一。众多研究表明户外活动能有效控制近视的发生和发展。本文综述了户外活动对近视防控作用的研究进展及其作用机制,以期为近视防控提供新的思路。
In recent decades, the prevalence of myopia has been increasing globally, becoming one of the major public health issues worldwide. Numerous studies indicate that outdoor activities can effectively control the onset and progression of myopia. This article reviews the research progress on prevention and control effect and mechanism of outdoor activities on myopia, hoping to provide new insights for myopia prevention and control.