Medicine (Abingdon, England : UK ed.)最新文献

英文中文

Self-assessment/CPD answers 自我评价/ CPD答案

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-11-21 DOI: 10.1016/j.mpmed.2025.10.015

引用次数: 0

Infections in the immunocompromised host: primary immunodeficiency disorders 免疫功能低下宿主的感染：原发性免疫缺陷疾病

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-11-21 DOI: 10.1016/j.mpmed.2025.10.006

Nicholas E Peters, Adrian M Shields

Primary immunodeficiencies (PID), also termed inborn errors of immunity (IEI) arise usually from genetic mutations in immune-related genes, distinct from the more common secondary immunodeficiencies caused by malnutrition, HIV, or iatrogenic. This article provides an overview of PID pathophysiology and clinical presentations, emphasizing the relationship between specific immune defects and characteristic infectious susceptibilities.

The human immune system comprises interconnected innate and adaptive components that maintain tissue homeostasis through epithelial barriers, pattern recognition receptors, and adaptive lymphocyte responses. Disruption of these mechanisms by PID leads to predictable infection patterns. Antibody deficiencies, the most common PID, cause recurrent sinopulmonary infections with encapsulated bacteria due to impaired opsonization. Complement deficiencies create similar susceptibilities, with terminal complement defects uniquely predisposing to Neisseria infections. Whereas some PID have broader infection susceptibility, there are also sentinel infections such as Candida and mycobacterial infections which may also arise the suspicion of a possible underlying immunological defect. In addition to genetically-derived immune deficiencies, recent recognition of anti-cytokine autoantibodies represents a novel immunodeficiency mechanism.

Diagnostic approaches to patients with PID include functional immune assessments and genomic analysis. Treatment encompasses antimicrobial prophylaxis, immunoglobulin replacement, targeted therapies, and definitive correction through haematopoietic stem cell transplantation or gene therapy.

原发性免疫缺陷（PID），也称为先天性免疫缺陷（IEI），通常由免疫相关基因的基因突变引起，不同于更常见的由营养不良、艾滋病毒或医源性引起的继发性免疫缺陷。本文综述了PID的病理生理和临床表现，强调了特异性免疫缺陷与特征性感染易感性之间的关系。人体免疫系统包括相互关联的先天和适应性成分，通过上皮屏障、模式识别受体和适应性淋巴细胞反应维持组织稳态。PID破坏这些机制导致可预测的感染模式。抗体缺陷，最常见的PID，引起反复肺感染包被细菌由于受损的调理。补体缺陷产生类似的敏感性，终末补体缺陷独特地易导致奈瑟菌感染。虽然一些PID具有广泛的感染易感性，但也有前哨感染，如念珠菌和分枝杆菌感染，这也可能引起潜在免疫缺陷的怀疑。除了遗传来源的免疫缺陷，最近对抗细胞因子自身抗体的认识代表了一种新的免疫缺陷机制。PID患者的诊断方法包括功能性免疫评估和基因组分析。治疗包括抗菌素预防、免疫球蛋白替代、靶向治疗和通过造血干细胞移植或基因治疗的最终纠正。

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引用次数: 0

The immunology of infection 感染的免疫学

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-11-21 DOI: 10.1016/j.mpmed.2025.10.005

James J Gilchrist, Peter J Davis, Calman A MacLennan

The human immune system is composed of a collection of specialized cells and secreted proteins that allows the identification and removal of an invading pathogen, and, in doing so, limits host injury or death. This system is composed of innate and adaptive branches. It is important to recognize that although the innate and adaptive branches of the immune system differ fundamentally in their mechanisms of pathogen recognition, neither branch functions in isolation. Here, we address how the innate and adaptive immune systems sense the presence of a pathogen, how the immune system then coordinates anti-pathogen effector functions to remove the pathogen, and how immunological memory functions to protect the host against subsequent exposure to the same pathogen. We outline how dysregulated anti-pathogen immune responses can be deleterious. Finally, we consider how vaccines harness the immune system to induce protective immunity against infection and how controlled human infection models can inform our understanding of the immunology of infection.

人体免疫系统由一组特殊的细胞和分泌的蛋白质组成，它们可以识别和清除入侵的病原体，并在此过程中限制宿主的伤害或死亡。该系统由先天分支和自适应分支组成。重要的是要认识到，尽管免疫系统的先天和适应性分支在病原体识别机制上存在根本差异，但这两个分支都不是孤立地起作用的。在这里，我们讨论了先天免疫系统和适应性免疫系统如何感知病原体的存在，免疫系统如何协调抗病原体效应功能来清除病原体，以及免疫记忆如何保护宿主免受随后暴露于同一病原体的伤害。我们概述了失调的抗病原体免疫反应是如何有害的。最后，我们考虑了疫苗如何利用免疫系统诱导对感染的保护性免疫，以及受控的人类感染模型如何告知我们对感染免疫学的理解。

引用次数: 0

Principles of microscopy, culture and serology-based diagnostics 显微镜，培养和基于血清学的诊断原理

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-11-21 DOI: 10.1016/j.mpmed.2025.10.009

Joshua Fraser Taylor, Peter A Riley

The increasing rates of antibiotic resistance justify the need for microbiological investigations of patients with infections. Despite rapid advances in molecular diagnostics, traditional methods of microscopy, culture and serology still play a major role in diagnosing infectious diseases. Developments in differential media and the introduction of automated techniques for identification, susceptibility testing and serological diagnosis have improved efficiency. Many specimens are now examined using a combination of these older techniques and newer molecular methods. This article gives an overview of the use of microscopy, culture, antimicrobial susceptibility testing, serology and antigen detection techniques, with examples of how these methods are combined to analyse specimens.

抗生素耐药率的上升证明有必要对感染患者进行微生物学调查。尽管分子诊断学发展迅速，但传统的显微镜、培养和血清学方法在诊断传染病方面仍然发挥着重要作用。鉴别培养基的发展和自动鉴定、敏感性试验和血清学诊断技术的引进提高了效率。许多标本现在使用这些旧技术和新分子方法的结合进行检查。本文概述了显微镜、培养、抗菌素敏感性测试、血清学和抗原检测技术的使用，并举例说明了如何将这些方法结合起来分析标本。

引用次数: 0

Infections in the immunocompromised host: secondary immunodeficiency disorders 免疫功能低下宿主的感染：继发性免疫缺陷疾病

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-11-21 DOI: 10.1016/j.mpmed.2025.10.012

Daryl Weatherley, Claire Mullender, Amber Arnold

Individuals with secondary immunosuppression are increasingly encountered in medical practice. Many common and varied states are associated with secondary immunosuppression including malignancy, diabetes, HIV, chronic kidney disease, receipt of chemotherapy, solid organ and haemopoietic stem cell transplantation and immunomodulatory agents. Patients have a risk of an increased frequency and severity of the pathogens seen in immunocompetent individuals, as well as opportunistic pathogens. A useful framework for thinking about immunosuppression is to consider the spectrum, degree and duration of immunosuppression. Geographical exposures, including to healthcare settings, devices such as indwelling urinary and vascular catheters, and surgical interventions must also be considered. By understanding these factors, predictions can be made about the most likely infective organisms, and screening, prophylaxis, monitoring and empirical treatments can be initiated. Blood tests to ascertain the neutrophil count, lymphocyte subsets for CD4 T-cell count and serum immunoglobulin concentrations can help to stratify risk based on the degree of immunosuppression.

继发性免疫抑制个体在医疗实践中越来越多地遇到。许多常见和不同的状态与继发性免疫抑制有关，包括恶性肿瘤、糖尿病、艾滋病毒、慢性肾脏疾病、接受化疗、实体器官和造血干细胞移植以及免疫调节剂。患者在免疫正常的个体以及机会性病原体中所见的病原体出现频率和严重程度增加的风险。思考免疫抑制的一个有用的框架是考虑免疫抑制的范围、程度和持续时间。还必须考虑地理暴露，包括医疗机构、留置尿管和血管导管等设备以及手术干预。通过了解这些因素，可以对最有可能感染的生物体进行预测，并可以开始筛查，预防，监测和经验治疗。血液检查确定中性粒细胞计数、CD4 t细胞计数的淋巴细胞亚群和血清免疫球蛋白浓度有助于根据免疫抑制程度对风险进行分层。

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引用次数: 0

Molecular-based diagnostics, including future trends 基于分子的诊断，包括未来趋势

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-11-21 DOI: 10.1016/j.mpmed.2025.10.007

Simon Goldenberg, Blair Merrick

Microbiological diagnosis has traditionally relied on phenotypic methods involving culture and biochemical testing to identify and characterize clinically significant pathogens. The utility of these techniques can be limited by poor sensitivity and long turn-around time. Molecular and mass spectrometry techniques have rapidly changed the diagnostic landscape and the management of individuals with infections. Compared with conventional culture-based techniques, these modern approaches can rapidly provide more specific information on organism identity and the presence of resistance mechanisms. These methods are expected to contribute substantially to enhancing antimicrobial stewardship and to decreasing ‘time to appropriate antibiotics’, one of the most important factors in improving the prognosis of patients with life-threatening infections. The UK government review on antimicrobial resistance has clearly laid out the real implications of spreading drug resistance, and provides an overview of how rapid diagnostics can play an important role in reducing unnecessary antimicrobial use and/or allowing early antibiotic de-escalation. This article gives an overview of some of the practical applications of these modern technologies.

微生物学诊断传统上依赖于表型方法，包括培养和生化测试来识别和表征临床重要的病原体。这些技术的应用可能受到灵敏度差和周转时间长的限制。分子和质谱技术迅速改变了感染个体的诊断和管理。与传统的基于培养的技术相比，这些现代方法可以快速提供有关生物身份和抗性机制存在的更具体信息。预计这些方法将大大有助于加强抗菌药物管理和减少“适当使用抗生素的时间”，这是改善危及生命的感染患者预后的最重要因素之一。英国政府对抗菌素耐药性的审查清楚地列出了耐药性传播的真正影响，并概述了快速诊断如何在减少不必要的抗菌素使用和/或允许早期抗生素降级方面发挥重要作用。本文概述了这些现代技术的一些实际应用。

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引用次数: 0

The burden of rheumatic and musculoskeletal disease 风湿病和肌肉骨骼疾病的负担

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-11-01 DOI: 10.1016/j.mpmed.2025.08.004

Suzanne MM Verstappen

Musculoskeletal conditions occur commonly in the community, comprising approximately 20% of UK primary care consultations. The term encompasses a wide range of mechanical and inflammatory disorders, and although they can occur at any stage of life, even in young children, they increase in prevalence with age. As well as being common, they are associated with significant morbidity through disability, and cause the second most years lived with disability globally after mental health disorders. As a result, musculoskeletal disorders have significant financial consequences for individuals and society. This ‘cost’ of musculoskeletal conditions includes not only the cost to the health service in terms of primary and secondary care appointments, treatments and surgical interventions, but also the loss to the economy including absenteeism from work and presenteeism; further costs relate to social care, both formal and informal from family and friends. Finally, many musculoskeletal conditions are associated with reduced life expectancy, often underestimated because of the long-term nature of the conditions.

肌肉骨骼疾病常见于社区，约占英国初级保健咨询的20%。该术语包括范围广泛的机械性和炎症性疾病，尽管它们可以发生在生命的任何阶段，甚至在幼儿中，但它们的患病率随着年龄的增长而增加。它们不仅很常见，而且与严重的残疾发病率有关，在全球范围内造成的残疾寿命仅次于精神健康障碍。因此，肌肉骨骼疾病给个人和社会带来了重大的经济后果。肌肉骨骼疾病的“成本”不仅包括初级和二级保健预约、治疗和外科手术等保健服务的成本，还包括旷工和出勤等经济损失；进一步的费用涉及社会关怀，包括来自家庭和朋友的正式和非正式的社会关怀。最后，许多肌肉骨骼疾病与预期寿命缩短有关，由于这些疾病的长期性，往往被低估。

引用次数: 0

The rheumatological history 风湿病史

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-11-01 DOI: 10.1016/j.mpmed.2025.08.002

Bhavika Sethi, Jessica J Manson, Charlotte Wing

A thorough multisystem history is the key diagnostic tool in identifying rheumatological disease, which can present with the involvement of any body system and to clinicians working in any speciality. A wide-lens approach is required to elicit past and present symptomatology, combined with more selective questioning to identify associated features. Recognition of an emerging pattern of symptoms and organ involvement can then be used to formulate a diagnosis and exclude other differential diagnoses. This article provides a systematic approach by dividing up key systems involved in the rheumatological history and offers guidance on seeking out relevant clues to help put together the diagnosis.

全面的多系统病史是确定风湿病的关键诊断工具，它可以涉及任何身体系统和任何专业的临床医生。需要一个广角的方法来引出过去和现在的症状，结合更多的选择性问题来确定相关的特征。识别新出现的症状模式和器官受累可用于制定诊断并排除其他鉴别诊断。本文提供了一种系统的方法，通过划分涉及风湿病史的关键系统，并提供了寻找相关线索的指导，以帮助将诊断放在一起。

引用次数: 0

Ultrasound in rheumatology 风湿病超声

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-11-01 DOI: 10.1016/j.mpmed.2025.08.007

Dalia R Ludwig, Anastasia-Vasiliki Madenidou

The utility of ultrasound in the assessment, diagnosis and management of rheumatic disease is broadening. In addition to being a useful adjunct to joint examination, ultrasound now plays a significant role in the diagnosis of giant cell arteritis, therapeutic joint aspiration and intra-articular injection, and detection of extra-articular manifestations of connective tissue disease. The non-invasive diverse function of ultrasonography, together with its relative ease of use, makes it an attractive tool to practising rheumatologists. In comparison with other imaging techniques, for example computed tomography and magnetic resonance imaging, it is inexpensive, quick to use and accessible in the clinic to inform decision-making and disease management. Large multicentre trials validating ultrasonography in rheumatic disease have consolidated its place in the rheumatology toolbox.

超声在风湿病的评估、诊断和治疗中的应用日益广泛。超声除了作为关节检查的有用辅助手段外，在巨细胞动脉炎的诊断、治疗性关节抽吸和关节内注射、结缔组织疾病关节外表现的检测等方面也发挥着重要作用。超声检查的非侵入性多种功能，加上其相对易于使用，使其成为执业风湿病学家的一个有吸引力的工具。与其他成像技术（例如计算机断层扫描和磁共振成像）相比，它价格低廉，使用迅速，并且可以在诊所中为决策和疾病管理提供信息。大型多中心试验证实了风湿病超声检查巩固了其在风湿病工具箱中的地位。

引用次数: 0

Crystal arthritis 水晶关节炎

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-11-01 DOI: 10.1016/j.mpmed.2025.08.008

Pippa Watson

The crystal arthropathies share pathological and clinical features. There are three main types of crystal-associated arthritis. Pathologically, the deposition of crystals in the joints and soft tissues causes inflammation. Gout is the most common crystal arthritis, the most common cause of a hot joint and most frequent reason for inpatient rheumatology referral. Clinically, the presentation of the crystal arthropathies is often similar to those of acute arthritis, which is commonly mono- or oligoarticular. Patient demographics, previous history and clinical presentation often allow the differentiation, but imaging can be helpful. Joint fluid aspiration is another method but can be both painful and challenging, particularly in small joints. Care should be taken not to miss a septic arthritis, which can present similarly. Treatment of the acute attack should be prompt, with careful consideration given to the presence of co-morbidities when selecting treatment. In the case of gout, consideration must also be given to the prophylaxis of further attacks. This should include an emphasis on concordance with treatment and the use of a treat-to-target approach. It is also important to recognize the small role of diet, and to screen for and treat features of metabolic syndrome, which can coexist.

晶体关节病具有共同的病理和临床特征。晶体相关关节炎主要有三种类型。从病理学上讲，晶体在关节和软组织中的沉积会引起炎症。痛风是最常见的晶体关节炎，最常见的原因是一个热关节和最常见的原因住院风湿病转诊。临床上，晶体关节病的表现通常与急性关节炎相似，通常为单关节或少关节。患者的人口统计学、既往病史和临床表现往往有助于鉴别，但影像学检查也有帮助。关节液体抽吸是另一种方法，但可能既痛苦又具有挑战性，特别是在小关节。应注意不要错过脓毒性关节炎，它也可能出现类似的症状。急性发作的治疗应及时，在选择治疗时要仔细考虑是否存在合并症。在痛风的情况下，还必须考虑到预防进一步的攻击。这应包括强调与治疗的一致性和使用从治疗到目标的方法。同样重要的是要认识到饮食的小作用，并筛选和治疗代谢综合征的特征，它们可以共存。

{"title":"Crystal arthritis","authors":"Pippa Watson","doi":"10.1016/j.mpmed.2025.08.008","DOIUrl":"10.1016/j.mpmed.2025.08.008","url":null,"abstract":"<div><div>The crystal arthropathies share pathological and clinical features. There are three main types of crystal-associated arthritis. Pathologically, the deposition of crystals in the joints and soft tissues causes inflammation. Gout is the most common crystal arthritis, the most common cause of a hot joint and most frequent reason for inpatient rheumatology referral. Clinically, the presentation of the crystal arthropathies is often similar to those of acute arthritis, which is commonly mono- or oligoarticular. Patient demographics, previous history and clinical presentation often allow the differentiation, but imaging can be helpful. Joint fluid aspiration is another method but can be both painful and challenging, particularly in small joints. Care should be taken not to miss a septic arthritis, which can present similarly. Treatment of the acute attack should be prompt, with careful consideration given to the presence of co-morbidities when selecting treatment. In the case of gout, consideration must also be given to the prophylaxis of further attacks. This should include an emphasis on concordance with treatment and the use of a treat-to-target approach. It is also important to recognize the small role of diet, and to screen for and treat features of metabolic syndrome, which can coexist.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 11","pages":"Pages 747-752"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145468775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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