Endometriosis in the era of precision medicine and impact on sexual and reproductive health across the lifespan and in diverse populations.
Endometriosis in the era of precision medicine and impact on sexual and reproductive health across the lifespan and in diverse populations.
复制标题
DOI：
10.1096/fj.202300907
复制
发表时间：
2023-09
期刊：
影响因子：
--
通讯作者：
中科院分区：
文献类型：
--
作者：
子宫内膜异位症是一种常见的雌激素依赖性疾病，其子宫内膜组织（子宫内膜）主要位于骨盆，可引起炎症、慢性盆腔疼痛、性交和月经疼痛以及不孕。最近的证据也支持一种全身性炎症成分是相关合并症的基础，例如偏头痛、心血管疾病和自身免疫性疾病。遗传和环境对疾病风险有重大影响，随着组学技术的发展，症状的潜在机制越来越多地被阐明，尽管治疗疼痛和不孕症的新有效疗法落后于这些进展。此外，在有色人种、跨性别/非二元身份者、社会经济弱势群体和青少年之间，在诊断、获得护理和治疗方面存在着明显的差异，而且在卫生保健提供者、政策制定者和普通公众中，对子宫内膜异位症的认识令人不安，如果不及时诊断和治疗，可能导致严重的纤维化、不孕症、抑郁症和生活质量明显下降。本文综述了子宫内膜异位症的流行病学、其发病机制的有力证据、精准医学时代子宫内膜异位症的病理生理机制、最近的生物标志物发现、新的治疗方法，以及过去100年来子宫内膜异位症边缘人群的生殖正义问题。随着我们进入医疗保健和生物医学研究的下一次革命，拥有丰富的分子和临床数据集、单细胞组学和人群水平的数据，子宫内膜异位症将从数据驱动的研究中受益，利用计算和人工智能方法整合数据，预测疾病风险、诊断、对医疗和手术治疗的反应以及复发预后。精准医学在解决诊断和治疗许多疾病的复杂临床挑战和差异方面处于领先地位，最近已扩展到子宫内膜异位症，这是一种常见的炎症性疾病，具有异质症状和病变亚型，导致慢性疼痛和不孕。整合复杂的元数据、高分辨率组学数据、成像模式、新的手术范例和电子健康记录挖掘有助于改善不同人群的疾病表型、早期诊断、新药物发现、个性化治疗、预后指标和复发风险。
Endometriosis is a common estrogen‐dependent disorder wherein uterine lining tissue (endometrium) is found mainly in the pelvis where it causes inflammation, chronic pelvic pain, pain with intercourse and menses, and infertility. Recent evidence also supports a systemic inflammatory component that underlies associated co‐morbidities, e.g., migraines and cardiovascular and autoimmune diseases. Genetics and environment contribute significantly to disease risk, and with the explosion of omics technologies, underlying mechanisms of symptoms are increasingly being elucidated, although novel and effective therapeutics for pain and infertility have lagged behind these advances. Moreover, there are stark disparities in diagnosis, access to care, and treatment among persons of color and transgender/nonbinary identity, socioeconomically disadvantaged populations, and adolescents, and a disturbing low awareness among health care providers, policymakers, and the lay public about endometriosis, which, if left undiagnosed and under‐treated can lead to significant fibrosis, infertility, depression, and markedly diminished quality of life. This review summarizes endometriosis epidemiology, compelling evidence for its pathogenesis, mechanisms underlying its pathophysiology in the age of precision medicine, recent biomarker discovery, novel therapeutic approaches, and issues around reproductive justice for marginalized populations with this disorder spanning the past 100 years. As we enter the next revolution in health care and biomedical research, with rich molecular and clinical datasets, single‐cell omics, and population‐level data, endometriosis is well positioned to benefit from data‐driven research leveraging computational and artificial intelligence approaches integrating data and predicting disease risk, diagnosis, response to medical and surgical therapies, and prognosis for recurrence. Precision medicine is leading the way to resolving complex clinical challenges and disparities in diagnosing and treating many disorders and recently has been extended to endometriosis, a common, inflammatory disease with heterogenous symptoms and lesion subtypes causing chronic pain and infertility. Integrating complex metadata, high‐resolution omics data, imaging modalities, new surgical paradigms, and electronic health record mining are contributing to improved disease phenotyping, early diagnosis, novel drug discovery, personalized therapies, prognostic indicators, and risk of recurrence, across diverse populations.
登录
查看更多内容
影响因子：
6.7
作者：
Becker, Christian M.;Laufer, Marc R.;Stratton, Pamela;Hummelshoj, Lone;Missmer, Stacey A.;Zondervan, Krina T.;Adamson, G. David
通讯作者：
Adamson, G. David
DOI：
10.1111/j.1471-0528.2008.01878.x
发表时间：
2008-10-01
影响因子：
5.8
作者：
Ballard, K. D.;Seaman, H. E.;Wright, J. T.
通讯作者：
Wright, J. T.
DOI：
10.1056/nejmoa1614814
发表时间：
2017-05-11
期刊：
The New England journal of medicine
影响因子：
--
作者：
Anglesio MS;Papadopoulos N;Ayhan A;Nazeran TM;Noë M;Horlings HM;Lum A;Jones S;Senz J;Seckin T;Ho J;Wu RC;Lac V;Ogawa H;Tessier-Cloutier B;Alhassan R;Wang A;Wang Y;Cohen JD;Wong F;Hasanovic A;Orr N;Zhang M;Popoli M;McMahon W;Wood LD;Mattox A;Allaire C;Segars J;Williams C;Tomasetti C;Boyd N;Kinzler KW;Gilks CB;Diaz L;Wang TL;Vogelstein B;Yong PJ;Huntsman DG;Shih IM
通讯作者：
Shih IM
影响因子：
2.3
作者：
Benacerraf, Beryl R.;Groszmann, Yvette
通讯作者：
Groszmann, Yvette
DOI：
10.1016/j.bpobgyn.2018.01.008
发表时间：
2018-07-01
影响因子：
5.5
作者：
Aerts, Leen;Grangier, Lorraine;Pluchino, Nicola
通讯作者：
Pluchino, Nicola