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All the Tau We Cannot See. 所有我们看不见的Tau。
IF 10.5 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-042921-023749
Bradley Hyman

Alzheimer's disease (AD) was described in 1906 as a dementing disease marked by the presence of two types of fibrillar aggregates in the brain: neurofibrillary tangles and senile plaques. The process of aggregation and formation of the aggregates has been a major focus of investigation ever since the discoveries that the tau protein is the predominant protein in tangles and amyloid β is the predominant protein in plaques. The idea that smaller, oligomeric species of amyloid may also be bioactive has now been clearly established. This review examines the possibility that soluble, nonfibrillar, bioactive forms of tau-the "tau we cannot see"-comprise a dominant driver of neurodegeneration in AD.

阿尔茨海默病(AD)在1906年被描述为一种痴呆疾病,其特征是大脑中存在两种类型的纤维聚集体:神经原纤维缠结和老年斑。自从发现tau蛋白是缠结中的主要蛋白和β淀粉样蛋白是斑块中的主要蛋白以来,聚集体的聚集和形成过程一直是研究的主要焦点。小的、低聚的淀粉样蛋白也可能具有生物活性的观点现在已经得到了明确的确立。这篇综述探讨了可溶性、非纤原性、生物活性形式的tau蛋白(“我们看不到的tau蛋白”)构成阿尔茨海默病神经变性的主要驱动因素的可能性。
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引用次数: 9
Lessons Learned from the ISCHEMIA Trial for the Management of Patients with Stable Ischemic Heart Disease. 稳定性缺血性心脏病患者缺血试验的经验教训
IF 10.5 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-042921-124013
William E Boden, Peter H Stone

The recent landmark International Study of Comparative Health Effectiveness With Medical and Invasive Approaches (ISCHEMIA) trial was undertaken to assess whether stable angina patients with moderate to severe baseline ischemia would benefit from an invasive approach with revascularization versus a conservative approach of intensive lifestyle intervention and pharmacologic secondary prevention. This trial addressed the hypothesis that treating ischemia with an invasive approach would reduce major adverse cardiac events more than a noninvasive pharmacologic and lifestyle approach. ISCHEMIA is discussed in detail, along with current implications for contemporary management of this very common cardiac disorder afflicting millions of patients worldwide.

最近一项具有里程碑意义的医学和侵入性方法(ISCHEMIA)比较健康效果的国际研究进行了研究,以评估中度至重度基线缺血的稳定型心绞痛患者是否可以从侵入性方法和血运重建术中获益,而不是采用强化生活方式干预和药物二级预防的保守方法。该试验提出了一个假设,即采用有创方法治疗缺血比采用无创药物和生活方式治疗更能减少主要的心脏不良事件。详细讨论了缺血,以及当前对这种非常常见的心脏疾病的当代管理的影响,这种疾病折磨着全世界数百万患者。
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引用次数: 0
Advances and Applications of Polygenic Scores for Coronary Artery Disease. 冠状动脉疾病多基因评分的进展及应用。
IF 10.5 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2023-01-27 DOI: 10.1146/annurev-med-042921-112629
Aniruddh P Patel, Amit V Khera

Polygenic scores quantify inherited risk by integrating information from many common sites of DNA variation into a single number. Rapid increases in the scale of genetic association studies and new statistical algorithms have enabled development of polygenic scores that meaningfully measure-as early as birth-risk of coronary artery disease. These newer-generation polygenic scores identify up to 8% of the population with triple the normal risk based on genetic variation alone, and these individuals cannot be identified on the basis of family history or clinical risk factors alone. For those identified with increased genetic risk, evidence supports risk reduction with at least two interventions, adherence to a healthy lifestyle and cholesterol-lowering therapies, that can substantially reduce risk. Alongside considerable enthusiasm for the potential of polygenic risk estimation to enable a new era of preventive clinical medicine is recognition of a need for ongoing research into how best to ensure equitable performance across diverse ancestries, how and in whom to assess the scores in clinical practice, as well as randomized trials to confirm clinical utility.

多基因评分通过将来自许多常见DNA变异位点的信息整合成一个单一的数字来量化遗传风险。遗传关联研究规模的快速增长和新的统计算法使得多基因评分得以发展,早在出生时就有意义地衡量冠状动脉疾病的风险。这些新一代的多基因评分仅根据遗传变异就可识别出高达8%的人群,其风险是正常风险的三倍,而这些个体不能仅根据家族史或临床风险因素来识别。对于那些遗传风险增加的人,证据支持至少通过两种干预措施来减少风险,即坚持健康的生活方式和降低胆固醇的治疗,这可以大大降低风险。除了对多基因风险评估潜力的极大热情,以开创预防临床医学的新时代之外,人们还认识到需要进行持续的研究,以最好地确保不同祖先的公平表现,在临床实践中如何以及在谁身上评估分数,以及进行随机试验以确认临床效用。
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引用次数: 9
COVID-19 Vaccines: Adenoviral Vectors. COVID-19 疫苗:腺病毒载体。
IF 15.1 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2022-01-27 Epub Date: 2021-10-05 DOI: 10.1146/annurev-med-012621-102252
Catherine Jacob-Dolan, Dan H Barouch

The worldwide pandemic of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has led to the unprecedented pace of development of multiple vaccines. This review evaluates how adenovirus (Ad) vector platforms have been leveraged in response to this pandemic. Ad vectors have been used in the past for vaccines against other viruses, most notably HIV and Ebola, but they never have been produced, distributed, or administered to humans at such a large scale. Several different serotypes of Ads encoding SARS-CoV-2 Spike have been tested and found to be efficacious against COVID-19. As vaccine rollouts continue and the number of people receiving these vaccines increases, we will continue to learn about this vaccine platform for COVID-19 prevention and control.

由严重急性呼吸系统综合征冠状病毒 2(SARS-CoV-2)引起的 2019 年冠状病毒病(COVID-19)在全球范围内的大流行促使多种疫苗的开发以前所未有的速度发展。本综述评估了如何利用腺病毒(Ad)载体平台来应对这一流行病。腺病毒载体过去曾被用于其他病毒的疫苗,最著名的是艾滋病病毒和埃博拉病毒,但从未如此大规模地生产、分发或给人类使用过。已对几种不同血清型的编码 SARS-CoV-2 Spike 的 Ads 进行了测试,发现它们对 COVID-19 有效。随着疫苗的继续推广和接种人数的增加,我们将继续了解这一用于 COVID-19 预防和控制的疫苗平台。
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引用次数: 0
What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing? 未确诊疾病网络在基因组检测的临床应用方面给了我们哪些启示?
IF 10.5 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2022-01-27 DOI: 10.1146/annurev-med-042120-014904
David R Murdock, Jill A Rosenfeld, Brendan Lee

Genetic testing has undergone a revolution in the last decade, particularly with the advent of next-generation sequencing and its associated reductions in costs and increases in efficiencies. The Undiagnosed Diseases Network (UDN) has been a leader in the application of such genomic testing for rare disease diagnosis. This review discusses the current state of genomic testing performed within the UDN, with a focus on the strengths and limitations of whole-exome and whole-genome sequencing in clinical diagnostics and the importance of ongoing data reanalysis. The role of emerging technologies such as RNA and long-read sequencing to further improve diagnostic rates in the UDN is also described. This review concludes with a discussion of the challenges faced in insurance coverage of comprehensive genomic testing as well as the opportunities for a larger role of testing in clinical medicine.

过去十年中,基因检测经历了一场革命,特别是随着下一代测序技术的出现及其相关成本的降低和效率的提高。未确诊疾病网络(UDN)在应用此类基因组检测诊断罕见病方面一直处于领先地位。本综述讨论了未确诊疾病网络内进行的基因组检测的现状,重点是全外显子组和全基因组测序在临床诊断中的优势和局限性,以及正在进行的数据再分析的重要性。此外,还介绍了 RNA 和长序列测序等新兴技术在进一步提高 UDN 诊断率方面的作用。本综述最后讨论了全面基因组检测的保险覆盖所面临的挑战,以及检测在临床医学中发挥更大作用的机遇。
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引用次数: 0
Heart Failure with Preserved Ejection Fraction: Mechanisms and Treatment Strategies. 保留射血分数的心力衰竭:机制和治疗策略。
IF 10.5 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2022-01-27 DOI: 10.1146/annurev-med-042220-022745
Kazunori Omote, Frederik H Verbrugge, Barry A Borlaug

Approximately half of all patients with heart failure (HF) have a preserved ejection fraction, and the prevalence is growing rapidly given the aging population in many countries and the rising prevalence of obesity, diabetes, and hypertension. Functional capacity and quality of life are severely impaired in heart failure with preserved ejection fraction (HFpEF), and morbidity and mortality are high. In striking contrast to HF with reduced ejection fraction, there are few effective treatments currently identified for HFpEF, and these are limited to decongestion by diuretics, promotion of a healthy active lifestyle, and management of comorbidities. Improved phenotyping of subgroups within the overall HFpEF population might enhance individualization of treatment. This review focuses on the current understanding of the pathophysiologic mechanisms underlying HFpEF and treatment strategies for this complex syndrome.

大约一半的心力衰竭(HF)患者有保留的射血分数,由于许多国家的人口老龄化以及肥胖、糖尿病和高血压的患病率上升,心力衰竭的患病率正在迅速增长。保留射血分数(HFpEF)心力衰竭患者的功能能力和生活质量严重受损,发病率和死亡率都很高。与射血分数降低的心衰形成鲜明对比的是,目前很少有有效的治疗HFpEF的方法,这些方法仅限于通过利尿剂减少充血,促进健康积极的生活方式,以及对合并症的管理。在整个HFpEF人群中,亚群表型的改善可能会增强治疗的个体化。本文综述了目前对HFpEF的病理生理机制和治疗策略的理解。
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引用次数: 30
Organoid Models for Infectious Disease. 传染病的类器官模型。
IF 10.5 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2022-01-27 DOI: 10.1146/annurev-med-042320-023055
Sarah E Blutt, Mary K Estes

Infectious diseases affect individual health and have widespread societal impacts. New ex vivo models are critical to understand pathogenesis, host response, and features necessary to develop preventive and therapeutic treatments. Pluripotent and tissue stem cell-derived organoids provide new tools for the study of human infections. Organoid models recapitulate many characteristics of in vivo disease and are providing new insights into human respiratory, gastrointestinal, and neuronal host-microbe interactions. Increasing culture complexity by adding the stroma, interorgan communication, and the microbiome will improve the use of organoids as models for infection. Organoid cultures provide a platform with the capability to improve human health related to infectious diseases.

传染病影响个人健康,并具有广泛的社会影响。新的离体模型对于了解发病机制、宿主反应以及开发预防和治疗方法所必需的特征至关重要。多能干细胞和组织干细胞衍生的类器官为人类感染的研究提供了新的工具。类器官模型概括了体内疾病的许多特征,并为人类呼吸,胃肠道和神经宿主-微生物相互作用提供了新的见解。通过增加基质、器官间交流和微生物组来增加培养的复杂性,将改善类器官作为感染模型的使用。类器官培养提供了一个平台,有能力改善与传染病有关的人类健康。
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引用次数: 15
Enteroviruses and Type 1 Diabetes: Multiple Mechanisms and Factors? 肠病毒与1型糖尿病:多重机制和因素?
IF 10.5 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2022-01-27 DOI: 10.1146/annurev-med-042320-015952
Richard E Lloyd, Manasi Tamhankar, Åke Lernmark

Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by insulin deficiency and resultant hyperglycemia. Complex interactions of genetic and environmental factors trigger the onset of autoimmune mechanisms responsible for development of autoimmunity to β cell antigens and subsequent development of T1D. A potential role of virus infections has long been hypothesized, and growing evidence continues to implicate enteroviruses as the most probable triggering viruses. Recent studies have strengthened the association between enteroviruses and development of autoimmunity in T1D patients, potentially through persistent infections. Enterovirus infections may contribute to different stages of disease development. We review data from both human cohort studies and experimental research exploring the potential roles and molecular mechanisms by which enterovirus infections can impact disease outcome.

1型糖尿病(T1D)是一种以胰岛素缺乏和由此产生的高血糖为特征的慢性自身免疫性疾病。遗传和环境因素的复杂相互作用触发自身免疫机制的启动,负责对β细胞抗原的自身免疫的发展和随后的T1D的发展。长期以来,人们一直假设病毒感染的潜在作用,越来越多的证据继续表明肠病毒是最可能的触发病毒。最近的研究加强了肠道病毒与T1D患者自身免疫发展之间的联系,可能通过持续感染。肠道病毒感染可能导致疾病发展的不同阶段。我们回顾了人类队列研究和实验研究的数据,探索肠道病毒感染影响疾病结局的潜在作用和分子机制。
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引用次数: 23
Spectrum of Phenotypes and Causes of Type 2 Diabetes in Children. 儿童2型糖尿病的表型和病因谱。
IF 10.5 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2022-01-27 DOI: 10.1146/annurev-med-042120-012033
Amy S Shah, Kristen J Nadeau, Dana Dabelea, Maria J Redondo

Several factors, including genetics, family history, diet, physical activity, obesity, and insulin resistance in puberty, appear to increase the risk of type 2 diabetes in youth. Youth-onset type 2 diabetes is often thought of as a single entity but rather exists as a spectrum of disease with differences in presentation, metabolic characteristics, clinical progression, and complication rates. We review what is currently known regarding the risks associated with developing type 2 diabetes in youth. Additionally, we focus on the spectrum of phenotypes of pediatric type 2 diabetes, discuss the pathogenic underpinnings and potential therapeutic relevance of this heterogeneity, and compare youth-onset type 2 diabetes with type 1 diabetes and adult-onset type 2 diabetes. Finally, we highlight knowledge gaps in prediction and prevention of youth-onset type 2 diabetes.

包括遗传、家族史、饮食、身体活动、肥胖和青春期胰岛素抵抗在内的几个因素似乎会增加青少年患2型糖尿病的风险。青年发病的2型糖尿病通常被认为是一个单一的实体,而是作为一个疾病谱系存在,在表现、代谢特征、临床进展和并发症发生率方面存在差异。我们回顾了目前已知的与青少年患2型糖尿病相关的风险。此外,我们重点研究了儿童2型糖尿病的表型谱,讨论了这种异质性的致病基础和潜在的治疗相关性,并比较了青年发病的2型糖尿病与1型糖尿病和成人发病的2型糖尿病。最后,我们强调了在预测和预防青少年2型糖尿病方面的知识差距。
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引用次数: 11
The Gut Microbiome and Inflammatory Bowel Diseases. 肠道微生物群和炎症性肠病。
IF 10.5 1区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL Pub Date : 2022-01-27 DOI: 10.1146/annurev-med-042320-021020
Yue Shan, Mirae Lee, Eugene B Chang

Inflammatory bowel diseases (IBD) arise from a convergence of genetic risk, environmental factors, and gut microbiota, where each is necessary but not sufficient to cause disease. Emerging evidence supports a bidirectional relationship between disease progression and changes in microbiota membership and function. Thus, the study of the gut microbiome and host-microbe interactions should provide critical insights into disease pathogenesis as well as leads for developing microbiome-based diagnostics and interventions for IBD. In this article, we review the most recent advances in understanding the relationship between the gut microbiota and IBD and highlight the importance of going beyond establishing description and association to gain mechanistic insights into causes and consequences of IBD. The review aims to contextualize recent findings to form conceptional frameworks for understanding the etiopathogenesis of IBD and for the future development of microbiome-based diagnostics and interventions.

炎症性肠病(IBD)是遗传风险、环境因素和肠道微生物群共同作用的结果,其中每一个因素都是致病的必要条件,但不足以致病。新出现的证据支持疾病进展与微生物群成员和功能变化之间的双向关系。因此,肠道微生物组和宿主-微生物相互作用的研究应提供对疾病发病机制的重要见解,并为开发基于微生物组的IBD诊断和干预措施提供线索。在本文中,我们回顾了了解肠道微生物群与IBD之间关系的最新进展,并强调了超越建立描述和关联以获得IBD病因和后果机制见解的重要性。这篇综述的目的是将最近的研究结果置于背景下,为理解IBD的发病机制和未来基于微生物组的诊断和干预的发展形成概念性框架。
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引用次数: 32
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Annual review of medicine
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