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

英文中文

Hyperlipidaemia Hyperlipidaemia

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-10-01 DOI: 10.1016/j.mpmed.2025.07.006

Marina Minic-Novcic, Adrian Park

Hyperlipidaemia is characterized by abnormally elevated total cholesterol, triglycerides (triacylglycerols) or both. Hyperlipidaemias can be primary (genetic) or secondary (acquired). Hypercholesterolaemia is a major underlying cause of atherosclerotic cardiovascular disease (ASCVD) and is broadly divided into polygenic and monogenic. Both are associated with increased risk of ASCVD, with lower CVD rates in the former group. The polygenetic group often responds to dietary and lifestyle modification alone, although pharmacological interventions are also used. Monogenic (familial) hypercholesterolaemia always requires pharmacological treatment. Hypertriglyceridaemia is to a lesser degree associated with ASCVD risk. However, the principal clinical concern in hypertriglyceridaemia is increased risk of acute pancreatitis with triglyceride concentrations >10.0 mmol/litre. The primary screening test for hyperlipidaemia is a non-fasting full lipid profile. Serum apolipoproteins (apolipoproteins A1 B, lipoprotein (a)) are used for classifying ASCVD risk. Management includes lifestyle modification, lipid-lowering drugs and treatment of secondary causes, where applicable. Statins are first-line treatment. For primary prevention, 10-year CVD risk assessment is recommended before commencing statins. Patients with a more complex picture have access to new cholesterol-lowering drugs, including proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i), inclisiran and bempedoic acid. In hypertriglyceridaemia, management options include lifestyle modifications, fibrates, statins and omega-3 fatty acid.

高脂血症的特征是总胆固醇、甘油三酯（三酰甘油）或两者都异常升高。高脂血症可为原发性（遗传性）或继发性（后天）。高胆固醇血症是动脉粥样硬化性心血管疾病（ASCVD）的主要潜在原因，大致分为多基因和单基因。两者都与ASCVD的风险增加有关，前者的CVD发生率较低。多基因组通常只对饮食和生活方式的改变有反应，尽管也使用药物干预。单基因（家族性）高胆固醇血症总是需要药物治疗。高甘油三酯血症与ASCVD风险的相关性较小。然而，高甘油三酯血症的主要临床问题是甘油三酯浓度为10.0 mmol/l时急性胰腺炎的风险增加。高脂血症的主要筛选试验是非空腹全脂质谱。血清载脂蛋白（载脂蛋白A1 B，脂蛋白(a)）用于ASCVD风险分级。管理包括生活方式的改变，降脂药物和治疗继发原因，如适用。他汀类药物是一线治疗药物。对于一级预防，建议在开始使用他汀类药物之前进行10年心血管疾病风险评估。情况更复杂的患者可以使用新的降胆固醇药物，包括蛋白转化酶枯草杆菌素/克辛蛋白9型抑制剂（PCSK9i）、inclisiran和苯二甲酸。在高甘油三酯血症中，管理选择包括改变生活方式、贝特类药物、他汀类药物和omega-3脂肪酸。

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引用次数: 0

Carcinoid syndrome and neuroendocrine tumours 类癌综合征和神经内分泌肿瘤

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-10-01 DOI: 10.1016/j.mpmed.2025.07.011

Gabriela Mihai, Maralyn Druce

Neuroendocrine neoplasms (NENs) are relatively rare tumours arising from neuroendocrine cells, commonly in the gastrointestinal tract, with small intestine NENs (SI-NENs) being the most frequent primary site. SI-NENs frequently metastasize to the liver and approximately 30% of patients present with carcinoid syndrome. Imaging of SI-NENs typically reveals mesenteric fibrosis around a mesenteric mass. The diagnosis is confirmed by histology. Functional imaging (e.g. ⁶⁸Ga-DOTA-somatostatin analogue positron emission tomography/computed tomography) is important for tumour staging. Management requires a multidisciplinary approach. General treatment principles include therapies aimed at symptom control versus disease modification, including surgery (with curative or debulking intent), as well as targeted or systemic therapy.

神经内分泌肿瘤（NENs）是由神经内分泌细胞引起的相对罕见的肿瘤，常见于胃肠道，小肠NENs （SI-NENs）是最常见的原发部位。SI-NENs经常转移到肝脏，大约30%的患者表现为类癌综合征。SI-NENs成像通常显示肠系膜肿块周围的肠系膜纤维化。该诊断经组织学证实。功能成像（如68ga - dota -生长抑素模拟物正电子发射断层扫描/计算机断层扫描）对肿瘤分期很重要。管理需要多学科的方法。一般治疗原则包括针对症状控制与疾病改变的治疗，包括手术（具有治疗或减脂目的）以及靶向或全身治疗。

引用次数: 0

A developmental genetic approach to understanding skeletal metabolism and anatomy 用发育遗传学的方法来理解骨骼代谢和解剖学

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-10-01 DOI: 10.1016/j.mpmed.2025.08.001

B Paul Wordsworth

The most obvious function of the skeleton is to provide support and protection for the body. Its role as an endocrine organ is well recognized but extends from providing a valuable reservoir of minerals – notably calcium and phosphate – to include functions in regulating global energy homeostasis, particularly in altering insulin sensitivity. Healthy bone undergoes extensive remodelling throughout life through the action of bone-resorbing osteoclasts and bone-forming osteoblasts coordinated by osteocytes embedded in the bone matrix that sense the stresses acting on the skeleton. Genetic factors play a key role in many processes of bone development and regulation. Investigation of animal models and rare human genetic diseases has yielded major insights into many aspects of bone biology, which in some cases has led to the development of new strategies for treating metabolic bone diseases (e.g. osteoporosis, X-linked hypophosphataemia). The process of bone mineralization is incompletely understood but involves local regulation of inorganic phosphate and pyrophosphate ratios as well as other local inhibitors of phosphate mineralization. This article gives examples of some of the genetic factors that cause abnormal bone metabolism, including osteoporosis, osteomalacia, hyperostosis and ectopic ossification.

骨骼最明显的功能是为身体提供支撑和保护。它作为内分泌器官的作用已经得到了广泛的认识，但它的作用不仅限于提供有价值的矿物质储存库——尤其是钙和磷酸盐——还包括调节全球能量稳态的功能，特别是改变胰岛素敏感性。健康的骨骼在整个生命过程中经历了广泛的重塑，通过骨吸收破骨细胞和成骨细胞的作用，由嵌入骨基质中的骨细胞协调，这些骨细胞感知作用于骨骼上的应力。遗传因素在骨发育和调节的许多过程中起着关键作用。对动物模型和罕见的人类遗传疾病的研究已经对骨生物学的许多方面产生了重大见解，在某些情况下，这导致了治疗代谢性骨疾病（例如骨质疏松症、x连锁低磷血症）的新策略的发展。骨矿化过程尚不完全清楚，但涉及无机磷酸盐和焦磷酸盐比例的局部调节以及其他局部磷酸盐矿化抑制剂。本文列举了一些引起骨代谢异常的遗传因素，包括骨质疏松症、骨软化症、骨质增生和异位骨化。

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引用次数: 0

Menopause: diagnosis and management 更年期：诊断和管理

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-10-01 DOI: 10.1016/j.mpmed.2025.07.005

Sarah Burd, Guy Morris

Menopause is the permanent cessation of menstruation that results from loss of ovarian follicular activity. It marks the end of a woman's reproductive years and a fall in circulating oestrogen, progesterone and testosterone produced by the ovaries. The decrease in oestrogen affects multiple organs systems and can affect the management or course of medical co-morbidities. Hormone replacement therapy is an effective treatment for menopausal symptoms but is not without risk. With an increasingly ageing population with co-morbid conditions, it is essential for physicians to understand the physiological changes that occur during menopause and how to manage difficult or high-risk scenarios effectively. This article provides a review of the menopause, including diagnostic approaches, treatments and strategies for managing complex cases.

更年期是由于卵巢卵泡活动的丧失而导致月经的永久停止。它标志着女性生育年龄的结束，卵巢产生的雌激素、黄体酮和睾丸激素的循环下降。雌激素的减少会影响多个器官系统，并可能影响医疗合并症的管理或病程。激素替代疗法是治疗更年期症状的有效方法，但并非没有风险。随着人口老龄化和合并症的增加，医生必须了解更年期发生的生理变化，以及如何有效地管理困难或高风险的情况。本文综述了更年期，包括诊断方法，治疗和管理复杂病例的策略。

引用次数: 0

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

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-10-01 DOI: 10.1016/j.mpmed.2025.07.015

引用次数: 0

Hypercalcaemia and primary hyperparathyroidism 高钙血症和原发性甲状旁腺功能亢进

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-10-01 DOI: 10.1016/j.mpmed.2025.07.010

Vernon J Parfitt

Hypercalcaemia is common. Around 90% of cases are caused by one of two conditions: primary hyperparathyroidism (PHPT), the most common cause in outpatient settings and typically detected incidentally on blood tests; or malignancy, usually already overt and the most common cause in hospital inpatients. Clinical context and key investigations, particularly serum parathyroid hormone, lead to the cause. For hypercalcaemia of malignancy needing treatment, guidelines recommend intravenous bisphosphonate or denosumab initially, with calcitonin added if necessary. The latest management guidelines for PHPT are from the 5th International Workshop on the Evaluation and Management of Primary Hyperparathyroidism (2022) and the UK National Institute for Health and Care Excellence (2019). Long-term effects of monitored and untreated PHPT are increasingly recognized so parathyroid surgery is increasingly used outside its specific indications in individuals aged 50–70 years. There are updated guidelines on screening for genetic causes of PHPT before parathyroid surgery, as this can influence the type of surgery. Unsuccessful primary parathyroidectomy (5–10%) should be managed by a specialist multidisciplinary team.

高钙血症很常见。大约90%的病例是由以下两种情况之一引起的：原发性甲状旁腺功能亢进（PHPT），这是门诊最常见的原因，通常在血液检查中偶然发现；或恶性肿瘤，通常已经明显，最常见的原因是住院病人。临床背景和关键调查，特别是血清甲状旁腺激素导致的原因。对于需要治疗的恶性肿瘤的高钙血症，指南建议最初静脉注射双膦酸盐或地诺单抗，必要时添加降钙素。最新的PHPT管理指南来自第五届原发性甲状旁腺功能亢进症评估和管理国际研讨会（2022年）和英国国家健康与护理卓越研究所（2019年）。监测和未经治疗的PHPT的长期影响越来越被认识到，因此甲状旁腺手术越来越多地用于50-70岁人群的特定适应症之外。甲状旁腺手术前有关于PHPT遗传原因筛查的最新指南，因为这可能影响手术类型。不成功的原发性甲状旁腺切除术（5-10%）应由专业的多学科团队管理。

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引用次数: 0

Hypocalcaemia 低钙血症

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-10-01 DOI: 10.1016/j.mpmed.2025.07.007

Zahra Ravat, Zaki Hassan-Smith, Neil Gittoes

Hypocalcaemia is encountered in all areas of clinical practice: in primary care, where vitamin D deficiency is often the cause, and in unselected secondary care, where hypocalcaemia has a prevalence of 18%, rising to 85% in intensive care environments. An understanding of the physiological basis of calcium homoeostasis is essential for deciphering the causes of underlying hypocalcaemia. Awareness of the clinical presentation, differential diagnosis and treatment of hypocalcaemia is important. Hypocalcaemia is potentially life-threatening and carries the risk of serious errors in management. It can be an asymptomatic laboratory finding or a life-threatening metabolic disturbance. Acute hypocalcaemia can result in severe symptoms that indicate a medical emergency requiring rapid admission to hospital and correction with intravenous calcium. In contrast, when hypocalcaemia develops slowly, even if it is quantitatively severe, patients can be surprisingly free of classical symptoms. This article covers essential aspects of the physiological regulation of calcium and offers practical clinical advice on investigating, diagnosing and treating common (and less common) causes of hypocalcaemia. Treatment advice is proposed for acute hypocalcaemia, vitamin D deficiency and management of hypoparathyroidism, where new therapies have emerged.

低钙血症在临床实践的所有领域都会遇到：在初级保健中，维生素D缺乏通常是病因，而在未经选择的二级保健中，低钙血症的患病率为18%，在重症监护环境中上升到85%。了解钙平衡的生理基础对于解释潜在的低钙血症的原因是必不可少的。认识低钙血症的临床表现、鉴别诊断和治疗是很重要的。低钙血症具有潜在的危及生命的危险，并且存在严重管理错误的风险。它可以是无症状的实验室发现，也可以是危及生命的代谢紊乱。急性低钙血症可导致严重的症状，表明需要迅速住院和静脉补钙纠正的医疗紧急情况。相反，当低钙血症发展缓慢时，即使在数量上很严重，患者也可以令人惊讶地没有经典症状。本文涵盖了钙生理调节的基本方面，并就调查、诊断和治疗低钙血症的常见（和不常见）原因提供了实用的临床建议。建议对急性低钙血症、维生素D缺乏症和甲状旁腺功能减退症进行治疗，在这些方面出现了新的治疗方法。

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引用次数: 0

Disorders of growth 生长障碍

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-10-01 DOI: 10.1016/j.mpmed.2025.07.014

Nicola Bridges, Kyriaki Alatzoglou

Most children who have short or tall stature are healthy and just at the extremes of the normal range. Plotting a child on a centile chart and following the growth pattern over time helps to assess whether the pattern of growth is normal – a normal growth pattern confirms that the hormonal control of growth is normal. During puberty, sex steroids stimulate growth directly and increase growth hormone (GH) secretion, leading to the pubertal growth spurt. Any short child whose pattern of growth is abnormal (reduced growth velocity) should be investigated. GH treatment is indicated for GH deficiency and a number of other defined short stature conditions. Most children referred to the clinic with concerns about growth will not benefit from GH treatment but media and internet information means that GH is often the focus of discussions.

大多数个子矮或个子高的孩子都是健康的，只是处于正常范围的极端。在百分位图上画一个孩子，并跟踪一段时间的生长模式，这有助于评估生长模式是否正常——正常的生长模式证实激素对生长的控制是正常的。在青春期，性类固醇直接刺激生长，增加生长激素（GH）的分泌，导致青春期生长突增。任何生长模式异常（生长速度降低）的矮个子儿童都应该进行调查。生长激素治疗适用于生长激素缺乏症和许多其他确定的身材矮小的情况。大多数到诊所就诊的儿童都担心生长发育问题，但生长激素治疗对他们没有好处，但媒体和互联网信息意味着生长激素经常是讨论的焦点。

引用次数: 0

Polycystic ovary syndrome 多囊卵巢综合征

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-10-01 DOI: 10.1016/j.mpmed.2025.07.008

Hassan Kahal

Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. In this review we summarize and reflect on the 2023 international evidence-based guidelines for the assessment and management of PCOS in adults.

多囊卵巢综合征（PCOS）是育龄妇女常见的内分泌疾病。在这篇综述中，我们对2023年国际成人多囊卵巢综合征评估和管理循证指南进行总结和反思。

引用次数: 0

Male hypogonadism and testosterone replacement therapy 男性性腺功能减退和睾酮替代疗法

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-10-01 DOI: 10.1016/j.mpmed.2025.07.004

Leighton J Seal

The causes of male hypogonadism can be classified into primary (testicular) and secondary (central). This review discusses the indications for testosterone replacement therapy, provides a practical clinical guide to managing this therapy and reviews its use in non-gonadal illness such as HIV. It summarizes the preparations available for testosterone replacement, with an emphasis on newer delivery systems, and discusses the adverse effects of testosterone treatment, including prostate cancer and polycythaemia. Recent studies on the safety of testosterone with regard to cardiovascular safety and thromboembolism are discussed.

男性性腺功能减退的原因可分为原发性（睾丸）和继发性（中枢）。本文综述了睾酮替代疗法的适应症，提供了实用的临床指导，并回顾了其在非性腺疾病如HIV中的应用。它总结了可用于睾酮替代的制剂，重点是新的给药系统，并讨论了睾酮治疗的不良反应，包括前列腺癌和红细胞增多症。本文讨论了睾酮在心血管安全性和血栓栓塞方面的最新研究。

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全部化学•材料生命科学医学物理工程技术环境•农林材料科学地球科学法学管理学化学环境科学与生态学计算机科学教育学经济学农林科学人文科学生物学数学物理与天体物理心理学综合性期刊其他工业工程理学历史学农学文学信息工程

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全部 ACS Publications Elsevier ieeexplore Springer The Royal Society of Chemistry Wiley

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Medicine (Abingdon, England : UK ed.)

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