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Gastric neuroendocrine neoplasms 胃神经内分泌肿瘤
IF 81.5 1区 医学 Q1 Medicine Pub Date : 2024-04-11 DOI: 10.1038/s41572-024-00508-y
Giuseppe Lamberti, Francesco Panzuto, Marianne Pavel, Dermot O’Toole, Valentina Ambrosini, Massimo Falconi, Rocio Garcia-Carbonero, Rachel P. Riechelmann, Guido Rindi, Davide Campana

Gastric neuroendocrine neoplasms (gNENs) display peculiar site-specific features among all NENs. Their incidence and prevalence have been rising in the past few decades. gNENs comprise gastric neuroendocrine carcinomas (gNECs) and gastric neuroendocrine tumours (gNETs), the latter further classified into three types. Type I anatype II gNETs are gastrin-dependent and develop in chronic atrophic gastritis and as part of Zollinger–Ellison syndrome within a multiple endocrine neoplasia type 1 syndrome (MEN1), respectively. Type III or sporadic gNETs develop in the absence of hypergastrinaemia and in the context of a near-normal or inflamed gastric mucosa. gNECs can also develop in the context of variable atrophic, relatively normal or inflamed gastric mucosa. Each gNEN type has different clinical characteristics and requires a different multidisciplinary approach in expert dedicated centres. Type I gNETs are managed mainly by endoscopy or surgery, whereas the treatment of type II gNETs largely depends on the management of the concomitant MEN1. Type III gNETs may require both locoregional approaches and systemic treatments; NECs are often metastatic and therefore require systemic treatment. Specific data regarding the systemic treatment of gNENs are lacking and are derived from the treatment of intestinal NETs and NECs. An enhanced understanding of molecular and clinical pathophysiology is needed to improve the management and outcomes of patients’ gNETs.

在所有胃神经内分泌肿瘤中,胃神经内分泌肿瘤(gNENs)具有特殊的部位特异性。胃神经内分泌肿瘤包括胃神经内分泌癌(gNECs)和胃神经内分泌瘤(gNETs),后者又分为三类。I 型和 II 型 gNET 依赖胃泌素,分别发生于慢性萎缩性胃炎和多发性内分泌肿瘤 1 型综合征(MEN1)中的卓-艾综合征。III 型或散发性 gNET 在没有高胃酸血症、胃黏膜接近正常或有炎症的情况下发病。每种类型的 gNEN 都有不同的临床特征,需要在专门的专家中心采用不同的多学科治疗方法。I 型 gNET 主要通过内镜检查或手术治疗,而 II 型 gNET 的治疗主要取决于对并发 MEN1 的治疗。III 型 gNET 可能需要局部和全身治疗;NEC 通常会转移,因此需要全身治疗。目前还缺乏有关 gNENs 全身治疗的具体数据,这些数据来自肠 NETs 和 NECs 的治疗。需要加强对分子和临床病理生理学的了解,以改善 gNETs 患者的管理和治疗效果。
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引用次数: 0
Multidrug-resistant tuberculosis. 耐多药结核病。
IF 81.5 1区 医学 Q1 Medicine Pub Date : 2024-03-24 DOI: 10.1038/s41572-024-00512-2
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引用次数: 0
Multidrug-resistant tuberculosis 耐多药结核病
IF 81.5 1区 医学 Q1 Medicine Pub Date : 2024-03-24 DOI: 10.1038/s41572-024-00504-2
Keertan Dheda, Fuad Mirzayev, Daniela Maria Cirillo, Zarir Udwadia, Kelly E. Dooley, Kwok-Chiu Chang, Shaheed Vally Omar, Anja Reuter, Tahlia Perumal, C. Robert Horsburgh, Megan Murray, Christoph Lange

Tuberculosis (TB) remains the foremost cause of death by an infectious disease globally. Multidrug-resistant or rifampicin-resistant TB (MDR/RR-TB; resistance to rifampicin and isoniazid, or rifampicin alone) is a burgeoning public health challenge in several parts of the world, and especially Eastern Europe, Russia, Asia and sub-Saharan Africa. Pre-extensively drug-resistant TB (pre-XDR-TB) refers to MDR/RR-TB that is also resistant to a fluoroquinolone, and extensively drug-resistant TB (XDR-TB) isolates are additionally resistant to other key drugs such as bedaquiline and/or linezolid. Collectively, these subgroups are referred to as drug-resistant TB (DR-TB). All forms of DR-TB can be as transmissible as rifampicin-susceptible TB; however, it is more difficult to diagnose, is associated with higher mortality and morbidity, and higher rates of post-TB lung damage. The various forms of DR-TB often consume >50% of national TB budgets despite comprising <5–10% of the total TB case-load. The past decade has seen a dramatic change in the DR-TB treatment landscape with the introduction of new diagnostics and therapeutic agents. However, there is limited guidance on understanding and managing various aspects of this complex entity, including the pathogenesis, transmission, diagnosis, management and prevention of MDR-TB and XDR-TB, especially at the primary care physician level.

结核病(TB)仍然是全球最主要的传染病致死原因。耐多药或耐利福平肺结核(MDR/RR-TB;对利福平和异烟肼的耐药性,或仅对利福平的耐药性)在世界多个地区,尤其是东欧、俄罗斯、亚洲和撒哈拉以南非洲地区,是一个日益严峻的公共卫生挑战。前广泛耐药结核病(pre-extensive-resistant TB)是指对氟喹诺酮类药物也产生耐药性的 MDR/RR-TB,而广泛耐药结核病(XDR-TB)分离株对其他主要药物(如贝达喹啉和/或利奈唑胺)也产生耐药性。这些亚群统称为耐药结核病(DR-TB)。所有形式的 DR-TB 与利福平敏感型 TB 一样具有传播性;但是,DR-TB 更难诊断,死亡率和发病率更高,结核病后肺损伤的发生率也更高。尽管 DR-TB 只占结核病病例总数的 5%-10%,但它的各种形式却往往消耗了 50%的国家结核病预算。过去十年间,随着新型诊断方法和治疗药物的引入,DR-TB 的治疗形势发生了巨大变化。然而,在了解和管理这一复杂实体的各个方面(包括 MDR-TB 和 XDR-TB 的发病机制、传播、诊断、管理和预防)方面,尤其是在初级保健医生层面,指导却很有限。
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引用次数: 0
Author Correction: Oesophageal atresia. 作者更正:食道闭锁。
IF 81.5 1区 医学 Q1 Medicine Pub Date : 2024-03-22 DOI: 10.1038/s41572-024-00513-1
Marinde van Lennep, Maartje M J Singendonk, Luigi Dall'Oglio, Fréderic Gottrand, Usha Krishnan, Suzanne W J Terheggen-Lagro, Taher I Omari, Marc A Benninga, Michiel P van Wijk
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引用次数: 0
Invasive candidiasis. 侵袭性念珠菌病
IF 81.5 1区 医学 Q1 Medicine Pub Date : 2024-03-21 DOI: 10.1038/s41572-024-00503-3
Cornelia Lass-Flörl, Souha S Kanj, Nelesh P Govender, George R Thompson, Luis Ostrosky-Zeichner, Miriam Alisa Govrins

Invasive candidiasis is an important fungal disease caused by Candida albicans and, increasingly, non-albicans Candida pathogens. Invasive Candida infections originate most frequently from endogenous human reservoirs and are triggered by impaired host defences. Signs and symptoms of invasive candidiasis are non-specific; candidaemia is the most diagnosed manifestation, with disseminated candidiasis affecting single or multiple organs. Diagnosis poses many challenges, and conventional culture techniques are frequently supplemented by non-culture-based assays. The attributable mortality from candidaemia and disseminated infections is ~30%. Fluconazole resistance is a concern for Nakaseomyces glabratus, Candida parapsilosis, and Candida auris and less so in Candida tropicalis infection; acquired echinocandin resistance remains uncommon. The epidemiology of invasive candidiasis varies in different geographical areas and within various patient populations. Risk factors include intensive care unit stay, central venous catheter use, broad-spectrum antibiotics use, abdominal surgery and immune suppression. Early antifungal treatment and central venous catheter removal form the cornerstones to decrease mortality. The landscape of novel therapeutics is growing; however, the application of new drugs requires careful selection of eligible patients as the spectrum of activity is limited to a few fungal species. Unanswered questions and knowledge gaps define future research priorities and a personalized approach to diagnosis and treatment of invasive candidiasis is of paramount importance.

侵袭性念珠菌病是由白色念珠菌以及越来越多的非白色念珠菌病原体引起的一种重要真菌疾病。侵袭性念珠菌感染最常见于人类内源性储库,由宿主防御功能受损引发。侵袭性念珠菌病的体征和症状无特异性;念珠菌血症是最常见的诊断表现,播散性念珠菌病会影响单个或多个器官。诊断面临许多挑战,传统的培养技术经常辅以非培养检测。念珠菌血症和播散性感染造成的死亡率约为 30%。氟康唑耐药性是光滑中色酵母菌、副荚膜念珠菌和无荚膜念珠菌感染的一个问题,热带念珠菌感染的耐药性则较少;获得性棘白菌素耐药性仍不常见。侵袭性念珠菌病的流行病学在不同的地理区域和不同的患者人群中各不相同。风险因素包括入住重症监护室、使用中心静脉导管、使用广谱抗生素、腹部手术和免疫抑制。早期抗真菌治疗和移除中心静脉导管是降低死亡率的基础。新型疗法的应用范围正在不断扩大;然而,由于新药的作用范围仅限于少数真菌种类,因此需要对符合条件的患者进行仔细筛选。悬而未决的问题和知识空白决定了未来研究的重点,而对侵袭性念珠菌病进行个性化诊断和治疗至关重要。
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引用次数: 0
Invasive candidiasis. 侵袭性念珠菌病
IF 81.5 1区 医学 Q1 Medicine Pub Date : 2024-03-21 DOI: 10.1038/s41572-024-00510-4
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引用次数: 0
Retinal detachment. 视网膜脱落
IF 81.5 1区 医学 Q1 Medicine Pub Date : 2024-03-14 DOI: 10.1038/s41572-024-00501-5
Jonathan B Lin, Raja Narayanan, Elise Philippakis, Yoshihiro Yonekawa, Rajendra S Apte

Retinal detachment (RD) occurs when the neurosensory retina, the neurovascular tissue responsible for phototransduction, is separated from the underlying retinal pigment epithelium (RPE). Given the importance of the RPE for optimal retinal function, RD invariably leads to decreased vision. There are three main types of RD: rhegmatogenous, tractional and exudative (also termed serous) RD. In rhegmatogenous RD, one or more retinal breaks enable vitreous fluid to enter the subretinal space and separate the neurosensory retina from the RPE. In tractional RD, preretinal, intraretinal or subretinal membranes contract and exert tangential forces and elevate the retina from the underlying RPE. Finally, in exudative RD, an underlying inflammatory condition, vascular abnormality or the presence of a tumour causes exudative fluid to accumulate in the subretinal space, exceeding the osmotic pump function of the RPE. The surgical management of RD usually involves pars plana vitrectomy, scleral buckling or pneumatic retinopexy. The approach taken often depends on patient characteristics as well as on practitioner experience and clinical judgement. Advances in surgical technology and continued innovation have improved outcomes for many patients. However, even if retinal re-attachment is achieved, some patients still experience decreased vision or other visual symptoms, such as metamorphopsia, that diminish their quality of life. Continued research in the areas of neuroprotection and retinal biology as well as continued surgical innovation are necessary to enhance therapeutic options and outcomes for these patients.

当负责光传导的神经血管组织--神经感觉视网膜与底层视网膜色素上皮(RPE)分离时,就会发生视网膜脱离(RD)。鉴于视网膜色素上皮对视网膜最佳功能的重要性,RD 必然会导致视力下降。RD 主要有三种类型:流变性、牵引性和渗出性(也称浆液性)RD。在流变性 RD 中,一个或多个视网膜断裂使玻璃体液进入视网膜下间隙,将神经感觉视网膜与 RPE 分离。在牵引性 RD 中,视网膜前膜、视网膜内膜或视网膜下膜收缩并产生切向力,使视网膜从底层 RPE 上抬起。最后,在渗出性 RD 中,潜在的炎症状况、血管异常或肿瘤的存在导致渗出性液体积聚在视网膜下间隙,超过了 RPE 的渗透泵功能。RD 的手术治疗通常包括玻璃体旁切除术、巩膜扣锁术或气动视网膜整形术。采取哪种方法通常取决于患者的特征以及医生的经验和临床判断。手术技术的进步和不断创新改善了许多患者的治疗效果。然而,即使实现了视网膜再粘连,一些患者仍会出现视力下降或其他视觉症状,如偏盲,从而降低了他们的生活质量。有必要在神经保护和视网膜生物学领域继续开展研究,并不断进行手术创新,以提高这些患者的治疗选择和疗效。
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引用次数: 0
Retinal detachment. 视网膜脱落
IF 81.5 1区 医学 Q1 Medicine Pub Date : 2024-03-14 DOI: 10.1038/s41572-024-00509-x
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引用次数: 0
Alkaptonuria Alkaptonuria
IF 81.5 1区 医学 Q1 Medicine Pub Date : 2024-03-07 DOI: 10.1038/s41572-024-00507-z
This PrimeView highlights the pathophysiology of Alkaptonuria, a rare inherited metabolic disease, and summarizes its epidemiology, diagnosis and management. It accompanies the Primer article on this topic by Bernardini et al.
本 PrimeView 重点介绍了一种罕见的遗传性代谢性疾病--钾tonuria 的病理生理学,并概述了其流行病学、诊断和管理。它与 Bernardini 等人撰写的有关这一主题的入门文章配套。
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引用次数: 0
Alkaptonuria Alkaptonuria
IF 81.5 1区 医学 Q1 Medicine Pub Date : 2024-03-07 DOI: 10.1038/s41572-024-00498-x
Giulia Bernardini, Daniela Braconi, Andrea Zatkova, Nick Sireau, Mariusz J. Kujawa, Wendy J. Introne, Ottavia Spiga, Michela Geminiani, James A. Gallagher, Lakshminarayan R. Ranganath, Annalisa Santucci

Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. The consequent homogentisic acid (HGA) accumulation in body fluids and tissues leads to a multisystemic and highly debilitating disease whose main features are dark urine, ochronosis (HGA-derived pigment in collagen-rich connective tissues), and a painful and severe form of osteoarthropathy. Other clinical manifestations are extremely variable and include kidney and prostate stones, aortic stenosis, bone fractures, and tendon, ligament and/or muscle ruptures. As an autosomal recessive disorder, alkaptonuria affects men and women equally. Debilitating symptoms appear around the third decade of life, but a proper and timely diagnosis is often delayed due to their non-specific nature and a lack of knowledge among physicians. In later stages, patients’ quality of life might be seriously compromised and further complicated by comorbidities. Thus, appropriate management of alkaptonuria requires a multidisciplinary approach, and periodic clinical evaluation is advised to monitor disease progression, complications and/or comorbidities, and to enable prompt intervention. Treatment options are patient-tailored and include a combination of medications, physical therapy and surgery. Current basic and clinical research focuses on improving patient management and developing innovative therapies and implementing precision medicine strategies.

钾离子尿症是一种罕见的先天性代谢异常,是由于同戊酸 1,2-二氧 化酶活性缺乏引起的。因此,同型戊二酸(HGA)在体液和组织中的蓄积导致了一种多系统和高度衰弱的疾病,其主要特征是深色尿液、赭石症(富含胶原的结缔组织中的 HGA 衍生色素)以及一种疼痛和严重的骨关节病。其他临床表现极其多变,包括肾结石和前列腺结石、主动脉狭窄、骨折以及肌腱、韧带和/或肌肉断裂。作为一种常染色体隐性遗传疾病,碱蛋白尿症对男性和女性的影响相同。使人衰弱的症状出现在生命的第三个十年左右,但由于这些症状的非特异性和医生缺乏相关知识,正确和及时的诊断往往被延误。到了晚期,患者的生活质量可能会受到严重影响,并因合并症而进一步复杂化。因此,碱蛋白尿的适当治疗需要多学科方法,建议定期进行临床评估,以监测疾病进展、并发症和/或合并症,并及时进行干预。治疗方案根据患者的具体情况而定,包括药物、物理治疗和手术的综合治疗。目前的基础和临床研究侧重于改善患者管理、开发创新疗法和实施精准医疗策略。
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引用次数: 0
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Nature Reviews Disease Primers
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