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Klinefelter syndrome: what every paediatrician needs to know 克氏综合征：每个儿科医生都需要知道的
Paediatrics and Child Health (United Kingdom) Pub Date : 2025-04-01 DOI: 10.1016/j.paed.2025.01.002
Gary Butler
{"title":"Klinefelter syndrome: what every paediatrician needs to know","authors":"Gary Butler","doi":"10.1016/j.paed.2025.01.002","DOIUrl":"10.1016/j.paed.2025.01.002","url":null,"abstract":"<div><div>Klinefelter syndrome (KS) is a common sex chromosome variation around one in 750 live male births. The karyotype is usually 47,XXY. However, three quarters of KS males are never identified. Lifespan is not reduced. There is no specific infant phenotype. Prepubertal growth is generally rapid and children may become taller than the mid-parental height. Adolescent growth is not increased, so extreme tall stature is unusual. Overweight and central obesity occur in some boys from mid-childhood. Infant development is usually within age related ranges, although one third may need speech support and two thirds reading and language support. IQ is within the population range.</div><div>Puberty onset is not delayed and testosterone levels increase typically at first but often fail to rise in late puberty and biochemical hypogonadism is diagnosed by a low morning testosterone concentration. Clinical hypogonadism is common with central obesity, gynaecomastia and low muscle development and strength. Testosterone supplementation with transdermal gel or injections may help to improve physical development and functioning. Sperm production is severely reduced resulting in azoospermia in the majority. Fertility counselling is important but assessment not needed until late adolescence when surgical testicular sperm extraction can be performed, with no advantage at younger ages.</div></div>","PeriodicalId":38589,"journal":{"name":"Paediatrics and Child Health (United Kingdom)","volume":"35 4","pages":"Pages 101-105"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143792682","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}
引用次数: 0
Prader Willi syndrome: an update on the multidisciplinary approach Prader Willi综合征：多学科方法的更新
Paediatrics and Child Health (United Kingdom) Pub Date : 2025-04-01 DOI: 10.1016/j.paed.2025.01.005
Chamidri Randika Naotunna, Angela K Lucas-Herald, Malcolm DC Donaldson , M Guftar Shaikh
{"title":"Prader Willi syndrome: an update on the multidisciplinary approach","authors":"Chamidri Randika Naotunna,&nbsp;Angela K Lucas-Herald,&nbsp;Malcolm DC Donaldson ,&nbsp;M Guftar Shaikh","doi":"10.1016/j.paed.2025.01.005","DOIUrl":"10.1016/j.paed.2025.01.005","url":null,"abstract":"<div><div>Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by hypotonia, hyperphagia, obesity, and a spectrum of cognitive and behavioural issues. Clinical manifestations differ according to the age of presentation and as such a multidisciplinary approach is important across the lifespan to improve outcomes. Often this may be led by paediatric endocrinology but should include input from dietetics, psychology, respiratory, speech and language and others according to clinical need. It is likely these needs will change as the child grows and, as such, the composition of the team should remain flexible. Overall, a comprehensive, multidisciplinary approach encompassing medical, nutritional, behavioural, and educational support is essential for managing individuals with PWS, significantly improving the quality of life and long-term outcomes for affected children and their families.</div></div>","PeriodicalId":38589,"journal":{"name":"Paediatrics and Child Health (United Kingdom)","volume":"35 4","pages":"Pages 118-123"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143792568","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}
引用次数: 0
Making great occupational therapy referrals: how to get the right help, first time, for children, young people and families 进行出色的职业治疗转诊：如何在第一时间为儿童、年轻人和家庭获得正确的帮助
Paediatrics and Child Health (United Kingdom) Pub Date : 2025-03-01 DOI: 10.1016/j.paed.2024.12.004
Sally Payne
{"title":"Making great occupational therapy referrals: how to get the right help, first time, for children, young people and families","authors":"Sally Payne","doi":"10.1016/j.paed.2024.12.004","DOIUrl":"10.1016/j.paed.2024.12.004","url":null,"abstract":"<div><div>The demand for children's occupational therapy is rising, but resources and capacity are not following at the same pace. As a result, many children and young people are waiting too long to receive the occupational therapy they need and deserve. This article offers guidance for paediatricians to increase the chances of their referrals being accepted so children and young people can access the help they need, when they need it. The article begins by examining the reasons behind the growing demand, then explains how the universal, targeted, and individualized service model is being used to provide more timely access to occupational therapy expertise. Lastly, it offers guidance to help referrers make great referrals to enable children and young people to access the level and type of occupational therapy they need to fulfil their potential and live full and happy lives.</div></div>","PeriodicalId":38589,"journal":{"name":"Paediatrics and Child Health (United Kingdom)","volume":"35 3","pages":"Pages 96-100"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143551418","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}
引用次数: 0
Effective vaccination for malaria and wider implications for future global child health 有效的疟疾疫苗接种及其对未来全球儿童健康的更广泛影响
Paediatrics and Child Health (United Kingdom) Pub Date : 2025-03-01 DOI: 10.1016/j.paed.2024.12.002
Rodney Ogwang, Jane Crawley
{"title":"Effective vaccination for malaria and wider implications for future global child health","authors":"Rodney Ogwang,&nbsp;Jane Crawley","doi":"10.1016/j.paed.2024.12.002","DOIUrl":"10.1016/j.paed.2024.12.002","url":null,"abstract":"<div><div>Malaria remains a major public health concern. Following decades of research and development, a significant milestone was recently achieved with the historic approval of the first-generation of malaria vaccines. Importantly, initial programmatic use is planned for children living in areas of Africa with high malaria transmission intensity. Although their protective efficacy is incomplete, it is anticipated that these vaccines will provide public health gains. Noteworthy is the fact that, in addition to the direct antimalarial benefit, a highly effective malaria vaccine would have broad implications for global child health. Here we summarize the potential broader public health benefits of an efficacious vaccine and the practical implications of vaccine rollout. We also briefly discuss the current state of malaria vaccine research and development.</div></div>","PeriodicalId":38589,"journal":{"name":"Paediatrics and Child Health (United Kingdom)","volume":"35 3","pages":"Pages 79-87"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143551416","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}
引用次数: 0
The child with prolonged fever: when to think zebras 高烧不退的孩子：什么时候想斑马
Paediatrics and Child Health (United Kingdom) Pub Date : 2025-03-01 DOI: 10.1016/j.paed.2024.12.001
Sarah Reynolds, Seilesh Kadambari, Elizabeth Calton, Damian Roland
{"title":"The child with prolonged fever: when to think zebras","authors":"Sarah Reynolds,&nbsp;Seilesh Kadambari,&nbsp;Elizabeth Calton,&nbsp;Damian Roland","doi":"10.1016/j.paed.2024.12.001","DOIUrl":"10.1016/j.paed.2024.12.001","url":null,"abstract":"<div><div>Fever is a very common paediatric presentation and usually has an identifiable infectious aetiology. However, for the child with prolonged fever it is sometimes necessary to look beyond the usual suspects and consider the ‘zebra’ diagnoses – that is, the unusual ones. This update of our 2020 article addresses when to consider rarer and potentially life-threatening infective, autoimmune or malignant causes of prolonged fever and their immediate management. The advent of the COVID-19 pandemic (and thus the need to consider paediatric inflammatory multisystem syndrome temporally associated with COVID-19), the increase in tuberculosis and the resurgence in measles have been considered in the re-working of this paper.</div></div>","PeriodicalId":38589,"journal":{"name":"Paediatrics and Child Health (United Kingdom)","volume":"35 3","pages":"Pages 71-78"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143551415","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}
引用次数: 0
Managing a child with a possible vaccine allergy 处理一个可能对疫苗过敏的孩子
Paediatrics and Child Health (United Kingdom) Pub Date : 2025-03-01 DOI: 10.1016/j.paed.2024.12.003
Suzana Radulovic, Elizabeth Powell
{"title":"Managing a child with a possible vaccine allergy","authors":"Suzana Radulovic,&nbsp;Elizabeth Powell","doi":"10.1016/j.paed.2024.12.003","DOIUrl":"10.1016/j.paed.2024.12.003","url":null,"abstract":"<div><div>Adverse reactions to vaccination are frequent, but true allergy to vaccines is rare. It is important to recognize symptoms which are common side effects of immunization and local reactions/benign rashes which are not a contraindication for future vaccination. Patients with a history of significant reactions to vaccines need to be referred for investigation of suspected allergy to the vaccine itself, or, more commonly excipients. Investigations involve allergy testing (skin testing and specific IgE) and ultimately risk – assessed challenge to either the same vaccine or an alternative vaccine without the offending allergen in case of reactions to excipients/adjuvants. In this article, we discuss how to identify children and young people who need further investigation, those who would benefit from onward referral and distinguish them from those who can continue with the immunization schedule in the community or local services.</div></div>","PeriodicalId":38589,"journal":{"name":"Paediatrics and Child Health (United Kingdom)","volume":"35 3","pages":"Pages 88-95"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143551417","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}
引用次数: 0
Paediatric ECG made even easier 儿童心电图更容易
Paediatrics and Child Health (United Kingdom) Pub Date : 2025-02-01 DOI: 10.1016/j.paed.2024.11.001
Rami Dhillon
{"title":"Paediatric ECG made even easier","authors":"Rami Dhillon","doi":"10.1016/j.paed.2024.11.001","DOIUrl":"10.1016/j.paed.2024.11.001","url":null,"abstract":"<div><div>All doctors need to be able to interpret an electrocardiogram (ECG). For a non-invasive test the ECG can deliver great rewards to those prepared to invest in its promise. It holds the potential of distinguishing normal from abnormal in the investigation of common presentations such as heart murmurs and palpitations. In more acute situations, correct interpretation offers a keen understanding of disturbances of rhythm and conduction. This article examines the utility of this modest but potent tool.</div></div>","PeriodicalId":38589,"journal":{"name":"Paediatrics and Child Health (United Kingdom)","volume":"35 2","pages":"Pages 41-46"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143140385","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}
引用次数: 0
‘Let's pretend’ in paediatrics: in situ simulation in practice 儿科中的“让我们假装”：实践中的现场模拟
Paediatrics and Child Health (United Kingdom) Pub Date : 2025-02-01 DOI: 10.1016/j.paed.2024.11.004
Hannah Pool
{"title":"‘Let's pretend’ in paediatrics: in situ simulation in practice","authors":"Hannah Pool","doi":"10.1016/j.paed.2024.11.004","DOIUrl":"10.1016/j.paed.2024.11.004","url":null,"abstract":"<div><div>In-situ simulation is simulation-based education which is integrated into the clinical environment rather than in a dedicated training venue. It is used to improve clinical care, team dynamics and leadership as well as evaluate system issues and identify latent threats in the environment.</div><div>Designing a simulation, whether impromptu or planned, is crucial to its success. Considering the scenario and learning outcomes, location, equipment required and ensuring the right facilitators are available is essential. A simulation proforma can help to structure and deliver a successful session. It is important to create a supportive educational environment where participants feel comfortable and there is open debrief which identifies key learning for individuals, the department and wider system.</div><div>Embedding simulation into a department can be challenging but equally rewarding and lead to improvements in team performance and communication.</div></div>","PeriodicalId":38589,"journal":{"name":"Paediatrics and Child Health (United Kingdom)","volume":"35 2","pages":"Pages 65-67"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143140383","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}
引用次数: 0
How to survive your first neonatal job 如何度过你的第一份新生儿工作
Paediatrics and Child Health (United Kingdom) Pub Date : 2025-02-01 DOI: 10.1016/j.paed.2024.11.005
Nisha Aggarwal, Qasim Malik, Asad Abbas
{"title":"How to survive your first neonatal job","authors":"Nisha Aggarwal,&nbsp;Qasim Malik,&nbsp;Asad Abbas","doi":"10.1016/j.paed.2024.11.005","DOIUrl":"10.1016/j.paed.2024.11.005","url":null,"abstract":"<div><div>This article serves as a guide to navigating any clinician's first neonatal job, offering practical tips across all areas including neonatal intensive care, the special care baby unit and the postnatal ward. Whilst it focuses on the training landscape for paediatricians in the UK, it may be more widely applicable. It emphasizes the importance of prioritizing patient care through effective teamwork, communication, and regular check-ins with colleagues, especially during high-pressure situations such as births. Key practical skills, including airway management, blood gas interpretation, and procedural training, are discussed, along with strategies for obtaining workplace-based assessments. Importantly, the piece reinforces the value of support systems available to trainees, including mentorship from senior colleagues and interdisciplinary collaboration. Ultimately, whilst aneonatal rotation can be daunting, it offers invaluable opportunities for professional growth, equipping trainees with essential skills and knowledge to navigate the challenges of neonatal care confidently.</div></div>","PeriodicalId":38589,"journal":{"name":"Paediatrics and Child Health (United Kingdom)","volume":"35 2","pages":"Pages 68-70"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143140382","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}
引用次数: 0
Evaluation of heart murmurs in paediatrics: a lost skill in the era of echocardiography? 儿科心脏杂音的评估：超声心动图时代的失传技能？
Paediatrics and Child Health (United Kingdom) Pub Date : 2025-02-01 DOI: 10.1016/j.paed.2024.11.003
Titilayo Ogunlana, Moustafa Eldalal, Paraskevi Mikrou
{"title":"Evaluation of heart murmurs in paediatrics: a lost skill in the era of echocardiography?","authors":"Titilayo Ogunlana,&nbsp;Moustafa Eldalal,&nbsp;Paraskevi Mikrou","doi":"10.1016/j.paed.2024.11.003","DOIUrl":"10.1016/j.paed.2024.11.003","url":null,"abstract":"<div><div>Heart murmur is the commonest reason for referral to paediatric cardiology services. Although congenital heart disease (CHD) is common, affecting between 6 and 10 in 1000 live births most heart murmurs are innocent. This is particularly likely in the absence of any cardiac symptoms. When a murmur is heard, it is important to be able to determine which children need urgent assessment by specialist services and which ones can safely wait for a more routine evaluation. Appropriate information and sensible reassurance should be offered to parents. A good clinical assessment, as outlined in this article, will enable Paediatricians with expertise in Cardiology (PECs) and Paediatric Cardiologists (PCs) to safely triage patients and ensure services do not become overwhelmed with demand. This article aims to provide a structured approach to all health professionals who encounter paediatric patients with heart murmurs.</div></div>","PeriodicalId":38589,"journal":{"name":"Paediatrics and Child Health (United Kingdom)","volume":"35 2","pages":"Pages 53-56"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143140387","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}
引用次数: 0
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