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Challenging case of hypernatraemia in infancy. 婴儿高钠血症疑难病例。
IF 1.1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-08-28 DOI: 10.1136/archdischild-2024-327310
Katherine Hawton, Louise Galloway, Matthew Harmer, Anitha Kumaran, Mira Kharbanda, Caroline Platt, Toby Candler

A 1-month-old male infant presented unwell with a fever and shock. Blood tests showed hypernatraemia, hyperchloraemia and raised urea and creatinine. Initially, he was treated for dehydration secondary to sepsis. However, high urine output combined with low urine osmolality and high plasma osmolality was suggestive of a disorder of arginine vasopressin (AVP), previously called diabetes insipidus (DI). On further endocrine testing, thyroxine (T4) level was low with an inappropriately normal thyroid-stimulating hormone level with no other anterior pituitary hormone abnormalities, a normal MRI head and ophthalmological assessment. Desmopressin, a synthetic form of AVP, was commenced, however, there was an inadequate response despite dose escalation, leading to a diagnosis of AVP resistance (previously nephrogenic DI) rather than AVP deficiency (previously cranial DI). Copeptin, an AVP precursor peptide and surrogate marker, was significantly elevated. A renal tubulopathy genetic screen demonstrated a likely pathogenic hemizygous variant in the AVP receptor 2 gene, which has previously been associated with X-linked vasopressin resistance. This case demonstrates the challenge of differentiating between AVP deficiency and resistance in infancy and the value of copeptin and genetic testing in confirming diagnosis. We outline an approach to fluid management in AVP disorders.

一名 1 个月大的男婴因发烧和休克出现不适。血液检查显示他患有高钠血症、高氯血症以及尿素和肌酐升高。起初,他因败血症继发脱水而接受治疗。然而,高尿量、低尿渗透压和高血浆渗透压提示精氨酸加压素(AVP)紊乱,以前称为糖尿病性尿崩症(DI)。在进一步的内分泌检测中,甲状腺素(T4)水平偏低,促甲状腺激素水平异常正常,垂体前叶激素无其他异常,头部核磁共振成像和眼科评估正常。患者开始服用人工合成的去氨加压素(Desmopressin),但尽管剂量不断增加,患者的反应仍不充分,因此被诊断为去氨加压素抵抗(之前为肾源性垂体前叶功能障碍),而不是去氨加压素缺乏(之前为颅源性垂体前叶功能障碍)。AVP前体肽和替代标记物Copeptin显著升高。肾小管病变基因筛查显示,AVP 受体 2 基因可能存在致病性半杂合子变异,该基因以前曾与 X 连锁加压素抵抗有关。该病例显示了在婴儿期区分 AVP 缺乏和抵抗的难度,以及 copeptin 和基因检测在确诊中的价值。我们概述了 AVP 疾病的输液管理方法。
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引用次数: 0
Neurological presentation does not always mean a neurological diagnosis. 神经系统表现并不总是意味着神经系统诊断。
IF 1.1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-08-20 DOI: 10.1136/archdischild-2023-326589
Saskia Woolgrove, Saad Ahmed, Kapil Garg, Peter Bale, Tom Walton

This case article takes you on a journey starting with a paediatric patient presenting with sudden-onset lower limb paralysis and paraesthesia. Differential diagnoses, investigations and management are discussed as the case progresses, ultimately leading to the underlying cause.

这篇病例文章将带您从一名突发下肢麻痹和麻痹的儿科患者开始。随着病例的进展,我们将讨论鉴别诊断、检查和处理方法,最终找出根本原因。
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引用次数: 0
RCPCH/NPPG joint standing committee on medicines, best practice consensus guidelines for medication safe paediatric ward rounds, December 2023. RCPCH/NPPG 联合药品常设委员会,儿科安全用药查房最佳实践共识指南,2023 年 12 月。
IF 1.1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-08-15 DOI: 10.1136/archdischild-2024-326888
Jack Robins, Dilshad Marikar
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引用次数: 0
Fifteen-minute consultation: A guide to paediatric post-resuscitation care following return of spontaneous circulation. 十五分钟会诊:自发循环恢复后的儿科复苏后护理指南。
IF 1.1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-08-08 DOI: 10.1136/archdischild-2023-325922
Constantinos Kanaris

Paediatric resuscitation is a key skill for anyone in medicine who is involved in the care of children. Basic and advance paediatric life support courses are crucial in teaching those skills nationwide in a way that is memorable, protocolised and standardised. These courses are vital in the dissemination and upkeep of both theoretical and practical knowledge of paediatric resuscitation, with their primary aim being the return of spontaneous circulation. While sustaining life is important, preserving a life with quality, one with good functional and neurological outcomes should be the gold standard of any resuscitative attempt. Good neurological outcomes are dependent, in large part, on how well the postresuscitation stage is managed. This stage does not start in the intensive care unit, it starts at the point at which spontaneous circulation has been reinstated. The aim of this paper is to provide a basic overview of the main strategies that should be followed in order to minimise secondary brain injury after successful resuscitation attempts.

儿科复苏是所有从事儿童护理工作的医务人员的一项关键技能。基础和高级儿科生命支持课程对于在全国范围内以令人难忘、规范化和标准化的方式教授这些技能至关重要。这些课程对于传播和保持儿科复苏的理论和实践知识至关重要,其主要目的是恢复自发性循环。维持生命固然重要,但保留有质量的生命、良好的功能和神经功能才是任何复苏尝试的黄金标准。良好的神经功能预后在很大程度上取决于复苏后阶段的管理水平。这一阶段并非从重症监护室开始,而是从自发循环恢复之时开始。本文旨在概述复苏成功后应遵循的主要策略,以尽量减少二次脑损伤。
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引用次数: 0
A lifeline: enhancing neonatal central venous catheter safety. 生命线:提高新生儿中心静脉导管的安全性。
IF 1.1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-08-03 DOI: 10.1136/archdischild-2024-326977
Ourania Pappa, Megan Lynn, Nicola J Davey, Nicola J Mullins
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引用次数: 0
Incidental ring-shaped cerebral lesions in a 3-year-old. 一名 3 岁儿童的偶发环形脑损伤。
IF 1.1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-26 DOI: 10.1136/archdischild-2024-326860
Rebecca Borg, David Pace
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引用次数: 0
Optimising paediatric bedside teaching for medical students. 优化医科学生的儿科床旁教学。
IF 1.1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-25 DOI: 10.1136/archdischild-2024-326974
Abhishek Oswal, Nathan Collicott, Steve Jennings, Alison Kelly

Bedside teaching is a common teaching modality in undergraduate and postgraduate curricula and involves students being supervised in a clinical interaction at a patient's bedside by a more senior clinician. Following the clinical encounter, the students and teacher discuss the case and students' consultation skills. This is of particular value in teaching paediatrics to medical students, for whom paediatrics is an unfamiliar environment, and the approach to consultation is very different to usual adult practice. Junior doctors are often tasked with teaching medical students, either in structured bedside teaching sessions during formal teaching roles, or in ad hoc sessions with students shadowing on clinical placements. As paediatrics may be unfamiliar to the junior doctors themselves, offering teaching to medical students may cause some anxiety in their own ability and knowledge. This article provides doctors in paediatrics with an insight into the evidence base underlying paediatric bedside teaching, including model structures for bedside teaching and debriefing after the session, with the aims of improving their confidence in undertaking these sessions and improving their learners' and their own yield of learning.

床旁教学是本科生和研究生课程中常见的一种教学模式,包括由资历较深的临床医生指导学生在病人床旁进行临床互动。临床实践结束后,学生和教师就病例和学生的问诊技巧进行讨论。这对医科学生的儿科教学尤为重要,因为对他们来说,儿科是一个陌生的环境,其问诊方法也与成人的常规做法大相径庭。初级医生通常承担着教导医学生的任务,要么是在正式教学中进行有组织的床旁教学,要么是在临床实习中与跟班学生一起进行临时教学。由于初级医生本身可能对儿科并不熟悉,因此为医学生提供教学可能会让他们对自己的能力和知识感到焦虑。本文为儿科医生提供了儿科床旁教学的证据基础,包括床旁教学和课后汇报的示范结构,旨在提高他们开展这些课程的信心,并提高学生和他们自己的学习效率。
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引用次数: 0
Persistent painless eyelid swelling in an infant. 婴儿持续性无痛眼睑肿胀。
IF 1.1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-23 DOI: 10.1136/archdischild-2023-326476
Takashi Tagaya, Yoko Shioda, Yoshiyuki Tsutsumi, Takako Yoshioka
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引用次数: 0
Weak femoral pulses post procedure. 术后股动脉搏动减弱。
IF 1.1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-18 DOI: 10.1136/archdischild-2023-326725
Ian Scott Kendall, Rachel Bates, Steven Karyiannas, Andrew J Sands, Damien Kenny
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引用次数: 0
What are CAR T-cells? 什么是 CAR T 细胞?
IF 1.1 4区 医学 Q3 PEDIATRICS Pub Date : 2024-07-18 DOI: 10.1136/archdischild-2023-326081
Eleni Syrimi, Shivani Bailey
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引用次数: 0
期刊
Archives of Disease in Childhood-Education and Practice Edition
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