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Recent advances in the management of retinoblastoma 视网膜母细胞瘤治疗的最新进展
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.1016/j.paed.2025.09.004
Gerard Millen, Helen Jenkinson
Retinoblastoma is the most common intraocular malignancy in children, typically presenting before the age of 5, with around 50 new cases in the UK each year. Around 40% of affected children will carry a germline mutation of the RB1 tumour suppressor gene and will face not only the risk of retinoblastoma in early childhood, but a lifelong risk of second malignancy and challenging reproductive choices with a 1 in 2 chance of passing on the mutation to their offspring. Over the last 2 decades there have been significant developments in the management of retinoblastoma which have led to improved ocular survival, better visual outcomes and greater reproductive choices for affected individuals. This paper highlights some of these advances including: improvements in pre-natal and early neonatal diagnosis, new retinal imaging techniques which have revolutionized disease management, and innovative approaches to conservative management which have led to significant improvement in ocular salvage. There are exciting developments on the horizon as the increasing knowledge of the molecular genetics of retinoblastoma translates into the identification of high-risk subtypes and potential clinical and prognostic stratification which will guide treatment choices.
视网膜母细胞瘤是儿童中最常见的眼内恶性肿瘤,通常在5岁之前出现,在英国每年约有50例新病例。大约40%的患病儿童将携带RB1肿瘤抑制基因的种系突变,不仅在儿童早期面临视网膜母细胞瘤的风险,而且终身面临第二次恶性肿瘤的风险,并且有1 / 2的机会将突变遗传给后代,这对生殖选择构成挑战。在过去的二十年里,视网膜母细胞瘤的治疗取得了重大进展,这使得患者的眼部存活率得到了提高,视力得到了改善,并且有了更多的生殖选择。本文重点介绍了其中的一些进展,包括:产前和新生儿早期诊断的改进,新的视网膜成像技术已经彻底改变了疾病管理,以及创新的保守管理方法,这导致了眼部抢救的显着改善。随着对视网膜母细胞瘤分子遗传学知识的不断增加,对高风险亚型的识别和潜在的临床和预后分层将指导治疗选择,令人兴奋的进展即将出现。
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引用次数: 0
Barriers to ophthalmic care for children with autism spectrum disorder 自闭症谱系障碍儿童眼科护理的障碍
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.1016/j.paed.2025.09.005
Iman Yahya, M Ashwin Reddy
This thematic literature review explores barriers to ophthalmic care for children with autism spectrum disorder (ASD), focusing on healthcare access, communication, sensory sensitivities, behavioural challenges, and adherence to eye care instructions. Relevant peer-reviewed literature published between January 2020 and March 2025 from high-income countries was reviewed, focusing on recurring themes and clinical implications. Key sources were selected to illustrate the most significant challenges and promising strategies. Case studies, non-peer-reviewed articles, and non-English publications were excluded. Common barriers identified included communication difficulties, sensory sensitivities, behavioural and emotional challenges, limited access to specialized services, and poor adherence to care routines. Effective strategies included sensory-friendly modifications in clinical environments, tailored communication techniques, and structured behavioural supports. Involvement of caregivers and pre-appointment preparation were also found to improve cooperation and outcomes. A multidisciplinary, person-centred approach is essential to improving ophthalmic care for children with ASD. Implementing sensory, communication, and behavioural strategies can enhance access and adherence. Further research should aim to standardize these practices across healthcare settings to ensure consistent, inclusive care.
本专题文献综述探讨了自闭症谱系障碍(ASD)儿童眼科护理的障碍,重点是医疗保健获取、沟通、感觉敏感性、行为挑战和遵守眼科护理指示。回顾了2020年1月至2025年3月期间来自高收入国家发表的相关同行评议文献,重点关注反复出现的主题和临床意义。选择了主要来源来说明最重大的挑战和有希望的战略。排除了案例研究、非同行评议文章和非英文出版物。确定的常见障碍包括沟通困难、感觉敏感、行为和情感挑战、获得专业服务的机会有限以及对护理程序的依从性差。有效的策略包括在临床环境中对感觉友好的修改,量身定制的沟通技术和结构化的行为支持。护理人员的参与和预约前的准备也可以改善合作和结果。多学科、以人为本的方法对于改善自闭症儿童的眼科护理至关重要。实施感官、沟通和行为策略可以提高获得性和依从性。进一步的研究应该致力于在医疗环境中标准化这些做法,以确保一致的、包容性的护理。
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引用次数: 0
Through the looking glass: managing ocular manifestations of autoimmune and autoinflammatory conditions 透过镜子:管理自身免疫和自身炎症条件的眼部表现
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.1016/j.paed.2025.09.002
Smrithy Sadanandan, Mary Brennan, Conrad Schmoll
Autoimmune and autoinflammatory conditions may have ocular manifestations, which have potential to cause serious morbidity including vision loss. This article aims to provide the reader with a refresher about ocular anatomy, an update on immunopathogenesis and insight into the various ocular presentations. The commonest ocular manifestation namely uveitis is discussed in the context of idiopathic uveitis and juvenile idiopathic arthritis. Treatment approaches provide the reader a focus of discussion about the challenges that may be encountered by the child and their family.
自身免疫和自身炎症可能有眼部表现,有可能导致包括视力丧失在内的严重发病率。本文旨在为读者提供眼部解剖学的复习,免疫发病机制的更新和对各种眼部表现的见解。最常见的眼部表现即葡萄膜炎在特发性葡萄膜炎和青少年特发性关节炎的背景下进行了讨论。治疗方法为读者提供了一个关于儿童及其家庭可能遇到的挑战的讨论焦点。
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引用次数: 0
Trends in the candidacy for cochlear implantation in children and young people 儿童和青少年人工耳蜗植入候选趋势
Q3 Medicine Pub Date : 2025-12-01 DOI: 10.1016/j.paed.2025.09.003
Sana Patel, Simone Schaefer, Lise Henderson, Iain Bruce, Jaya Nichani
Cochlear implantation has significantly improved outcomes for children with severe-to-profound sensorineural hearing loss. Children and young people (CYP) with residual hearing may benefit from advances in surgical technique and electrode design, which has made preserving remaining natural hearing more achievable. This enables combined electric-acoustic and electric-natural stimulation, supporting a more natural listening experience. This article reviews current candidacy criteria for cochlear implants (CI) in CYP, including the concept of ‘borderline’ candidacy, where CYP are not achieving anticipated benefit from their conventional hearing aids (age-appropriate speech, language and listening skills), despite receiving some measurable benefit. The role of cochlear implantation in children with complex needs and those with single-sided deafness is also discussed with practical considerations such as magnetic resonance imaging (MRI) safety and the presence of ventriculoperitoneal shunts. Timely identification and referral are essential to ensure all eligible CYP are given the opportunity to benefit from cochlear implantation.
人工耳蜗植入术显著改善了重度至重度感音神经性听力损失儿童的预后。残听儿童和青少年(CYP)可能受益于外科技术和电极设计的进步,这使得保留剩余的自然听力更容易实现。这使得电声和电自然刺激相结合,支持更自然的聆听体验。本文回顾了目前CYP中人工耳蜗植入(CI)的候选标准,包括“边缘”候选的概念,即CYP尽管获得了一些可测量的益处,但并未从传统助听器中获得预期的益处(与年龄相适应的言语、语言和听力技能)。本文还讨论了人工耳蜗植入在复杂需求儿童和单侧耳聋儿童中的作用,并结合磁共振成像(MRI)安全性和脑室-腹膜分流的存在等实际考虑进行了讨论。及时识别和转诊对于确保所有符合条件的CYP都有机会从人工耳蜗植入中获益至关重要。
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引用次数: 0
Paediatric ear, nose and throat (ENT) emergencies: more than ‘just’ things stuck up children's noses 儿科耳鼻喉科急诊:不仅仅是“仅仅”有东西卡在孩子的鼻子里
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.paed.2025.08.005
Sarah Reynolds, Harriet Cunniffe, Nicholas Richens, Jessica Bewick
Ear, nose and throat (ENT)-related presentations form a staple of the paediatric emergency department workloads. Although often minor, they have the potential to be life-threatening and require prompt and specific management. Examples of commoner problems include infections of the head and neck, epistaxis, nasal septum haematomas and airway foreign bodies. In this short article we briefly summarize the most significant emergencies affecting children and give advice about their emergency management.
耳鼻喉科(ENT)相关的介绍构成了儿科急诊科工作量的主要部分。虽然通常是轻微的,但它们有可能危及生命,需要迅速和具体的治疗。常见的问题包括头颈部感染、鼻出血、鼻中隔血肿和气道异物。在这篇短文中,我们简要地总结了影响儿童的最重要的紧急情况,并就他们的紧急情况管理提出建议。
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引用次数: 0
Febrile seizures: an overview of presentation, management and parental guidance 热性惊厥:介绍,管理和家长指导的概述
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.paed.2025.08.002
Laura Duthie, Roisin Begley
Febrile seizures are the commonest form of seizure under the age of 2, occurring in 2–4% of children in the UK. Most occur between 12 and 18 months and are more common in those with a family history. The aetiology is multi-factorial, although most episodes occur in children with viral infections. In the majority of children the seizure will have resolved prior to coming to hospital and the child may be back to normal. These may require no further investigation or treatment. However, for parents who have witnessed the episode, it will have been extremely distressing and frightening. In addition, there are many myths and misconceptions held by parents particularly in relation to the association with fever and further episodes, as well as the concerns surrounding longer term outcomes. Reassurance and clear advice given by clinicians is therefore one of the most important aspects to management. This review gives a practical approach to management for clinicians and enables them to give informed and up to date guidance to parents, thus allowing them to feel confident about how to manage their child at home if they were to have further episodes, as well as providing reassurance about the harmless nature of febrile seizures.
热性惊厥是2岁以下最常见的惊厥形式,在英国发生在2 - 4%的儿童中。大多数发生在12到18个月之间,在有家族史的人中更常见。病因是多因素的,尽管大多数发作发生在病毒感染的儿童中。在大多数儿童癫痫发作将在来医院之前解决,孩子可能会恢复正常。这些可能不需要进一步的调查或治疗。然而,对于目睹了这一事件的父母来说,这将是非常痛苦和可怕的。此外,家长们持有许多误解和误解,特别是与发烧和进一步发作的关系,以及对长期结果的担忧。因此,临床医生给出的保证和明确的建议是管理最重要的方面之一。本综述为临床医生提供了一种实用的管理方法,使他们能够向父母提供知情和最新的指导,从而使他们对如何在家中管理孩子有信心,如果他们再次发作,以及提供关于热性癫痫发作无害性质的保证。
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引用次数: 0
Vaping in children and young people, and why it is a bad idea 儿童和年轻人吸电子烟,以及为什么这是一个坏主意
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.paed.2025.08.001
Rachel Isba, Liz Brewster
It is illegal for under-18s to buy vapes (e-cigarettes) in the UK, but evidence suggests that vaping amongst children and young people is a growing issue. Although recommended as a cessation aid for tobacco smoking in adults, the rationale for introduction of the Tobacco and Vapes Bill to “create a smokefree generation and tackle youth vaping” recognises the potential for harm caused by children and young people using vapes. Many vapes contain nicotine, and while the effects of nicotine from tobacco are well-established, much is unknown about the impacts of vaping-associated nicotine dependence. It is unlikely that vaping is entirely risk-free to health, particularly as nicotine is highly addictive. The wider context of how children and young people access vapes and why they use them also needs to be accounted for in identifying additional impact. Paediatricians need an awareness of prevention and cessation interventions, including how to start a supportive conversation around vaping and vaping cessation. The production and disposal of vapes also raises significant environmental concerns, so reducing vaping levels is also important for sustainability. Supporting children and young people to be nicotine free should be a public health priority.
在英国,18岁以下的未成年人购买电子烟是违法的,但有证据表明,儿童和年轻人吸电子烟的问题日益严重。尽管《烟草和电子烟法案》被推荐为成年人戒烟的辅助手段,但其“创造无烟一代,解决青少年吸电子烟问题”的基本原理是认识到儿童和青少年使用电子烟可能造成的危害。许多电子烟都含有尼古丁,虽然烟草中尼古丁的影响是公认的,但与电子烟相关的尼古丁依赖的影响尚不清楚。电子烟对健康不太可能完全没有风险,尤其是尼古丁极易上瘾。在确定额外影响时,还需要考虑儿童和年轻人如何接触电子烟以及他们为什么使用电子烟的更广泛背景。儿科医生需要了解预防和戒烟干预措施,包括如何就吸电子烟和戒烟展开支持性对话。电子烟的生产和处理也引起了严重的环境问题,因此减少电子烟的使用水平对可持续发展也很重要。支持儿童和青少年远离尼古丁应该是公共卫生的优先事项。
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引用次数: 0
Which child needs a gastrointestinal endoscopy? 哪个孩子需要胃肠内窥镜检查?
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.paed.2025.08.003
Bharanikumar Ravikumar, Sehrish Cheema, Lisa Whyte
Gastrointestinal (GI) endoscopy plays a pivotal role in both the diagnosis and treatment of paediatric gastrointestinal disorders. As indications expand and procedures become increasingly available across the UK, healthcare professionals must have an overview on when to refer a child for endoscopy. This article provides a practical approach, elaborating diagnostic and therapeutic uses, upper versus lower GI indications, and red flags that warrant endoscopic assessment. It covers common presentations such as persistent vomiting, chronic diarrhoea, gastrointestinal bleeding, and suspected coeliac disease and explains when endoscopy is not indicated. We also discuss the structure of paediatric endoscopy services across the UK and the need for appropriate preparation, support, and aftercare. We aim to support healthcare professionals in making informed referrals and minimizing unnecessary procedures while ensuring timely diagnosis and intervention for those who need it.
胃肠内镜在小儿胃肠疾病的诊断和治疗中起着举足轻重的作用。随着适应症的扩大和程序在英国变得越来越可用,医疗保健专业人员必须有一个概述,何时转介儿童进行内窥镜检查。本文提供了一种实用的方法,详细阐述了诊断和治疗的用途,上消化道与下消化道的适应症,以及需要内镜评估的危险信号。它涵盖了常见的症状,如持续呕吐、慢性腹泻、胃肠道出血和疑似乳糜泻,并解释了何时不需要内窥镜检查。我们还讨论了整个英国儿科内窥镜检查服务的结构和需要适当的准备,支持和善后护理。我们的目标是协助医护专业人员作出明智的转介,尽量减少不必要的程序,同时确保有需要的人士得到及时的诊断和干预。
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引用次数: 0
Approach to a child with swollen optic disc(s) 视盘肿大儿童的手术入路
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.paed.2025.08.004
Nermin Alashal, Niha Mariam Hussain, Nahin Hussain
Swollen appearance of the optic disc is a common ocular finding in children. Several underlying conditions can contribute to this appearance. It is essential to accurately identify and promptly address causes that may threaten vision or life. Additionally, awareness of certain congenital variations that may present with a swollen optic disc is important. This article provides an overview of the issue and a practical approach to the diagnosis and management of optic disc(s) swelling in children.
视盘肿胀是儿童常见的眼部现象。几个潜在的条件可能导致这种现象。准确识别和迅速解决可能威胁视力或生命的原因至关重要。此外,意识到某些先天性变异可能出现视盘肿胀是很重要的。这篇文章提供了一个问题的概述和一个实用的方法来诊断和管理视盘(s)肿胀的儿童。
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引用次数: 0
Developing a video-based educational resource for young people with asthma 为患有哮喘的年轻人开发基于视频的教育资源
Q3 Medicine Pub Date : 2025-10-01 DOI: 10.1016/j.paed.2025.07.004
Moira Gibbons, Nicki Barker, Nichola Butler, Heather Elphick
Asthma deaths amongst young people in the United Kingdom are amongst the highest in the world. However, it is widely acknowledged that effective self-management can improve asthma control and ultimately outcomes. Good quality patient education is key to this effective self-management, and this is especially true when young people are preparing for transition to adult services. The Respiratory Research Team at Sheffield Children's NHS Foundation Trust has developed an educational resource to support healthcare professionals with the delivery of this education. This article considers the framework adopted, content creation, the hosting of videos, the review process for draft materials, promoting the resource and finally, assessing its impact. In conclusion the challenges, relating to the adoption of the materials in clinical practice and to patient education as a tool for the empowerment of patients and improvement of asthma outcome, are addressed.
英国年轻人的哮喘死亡率是世界上最高的。然而,人们普遍认为,有效的自我管理可以改善哮喘控制和最终结果。高质量的患者教育是这种有效自我管理的关键,在年轻人准备过渡到成人服务时尤其如此。谢菲尔德儿童NHS基金会信托的呼吸研究小组开发了一种教育资源,以支持医疗保健专业人员提供这种教育。本文考虑了采用的框架,内容创建,视频的托管,草稿材料的审查过程,推广资源,最后评估其影响。总之,在临床实践中采用这些材料,并将患者教育作为赋予患者权力和改善哮喘结果的工具,这些挑战都得到了解决。
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引用次数: 0
期刊
Paediatrics and Child Health (United Kingdom)
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