Pub Date : 2024-08-28DOI: 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.
{"title":"Challenging case of hypernatraemia in infancy.","authors":"Katherine Hawton, Louise Galloway, Matthew Harmer, Anitha Kumaran, Mira Kharbanda, Caroline Platt, Toby Candler","doi":"10.1136/archdischild-2024-327310","DOIUrl":"https://doi.org/10.1136/archdischild-2024-327310","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":55471,"journal":{"name":"Archives of Disease in Childhood-Education and Practice Edition","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142115166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-20DOI: 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.
{"title":"Neurological presentation does not always mean a neurological diagnosis.","authors":"Saskia Woolgrove, Saad Ahmed, Kapil Garg, Peter Bale, Tom Walton","doi":"10.1136/archdischild-2023-326589","DOIUrl":"https://doi.org/10.1136/archdischild-2023-326589","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":55471,"journal":{"name":"Archives of Disease in Childhood-Education and Practice Edition","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142010015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-15DOI: 10.1136/archdischild-2024-326888
Jack Robins, Dilshad Marikar
{"title":"RCPCH/NPPG joint standing committee on medicines, best practice consensus guidelines for medication safe paediatric ward rounds, December 2023.","authors":"Jack Robins, Dilshad Marikar","doi":"10.1136/archdischild-2024-326888","DOIUrl":"https://doi.org/10.1136/archdischild-2024-326888","url":null,"abstract":"","PeriodicalId":55471,"journal":{"name":"Archives of Disease in Childhood-Education and Practice Edition","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-08DOI: 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.
{"title":"Fifteen-minute consultation: A guide to paediatric post-resuscitation care following return of spontaneous circulation.","authors":"Constantinos Kanaris","doi":"10.1136/archdischild-2023-325922","DOIUrl":"https://doi.org/10.1136/archdischild-2023-325922","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":55471,"journal":{"name":"Archives of Disease in Childhood-Education and Practice Edition","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141914674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-26DOI: 10.1136/archdischild-2024-326860
Rebecca Borg, David Pace
{"title":"Incidental ring-shaped cerebral lesions in a 3-year-old.","authors":"Rebecca Borg, David Pace","doi":"10.1136/archdischild-2024-326860","DOIUrl":"10.1136/archdischild-2024-326860","url":null,"abstract":"","PeriodicalId":55471,"journal":{"name":"Archives of Disease in Childhood-Education and Practice Edition","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141768052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-25DOI: 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.
{"title":"Optimising paediatric bedside teaching for medical students.","authors":"Abhishek Oswal, Nathan Collicott, Steve Jennings, Alison Kelly","doi":"10.1136/archdischild-2024-326974","DOIUrl":"10.1136/archdischild-2024-326974","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":55471,"journal":{"name":"Archives of Disease in Childhood-Education and Practice Edition","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Persistent painless eyelid swelling in an infant.","authors":"Takashi Tagaya, Yoko Shioda, Yoshiyuki Tsutsumi, Takako Yoshioka","doi":"10.1136/archdischild-2023-326476","DOIUrl":"https://doi.org/10.1136/archdischild-2023-326476","url":null,"abstract":"","PeriodicalId":55471,"journal":{"name":"Archives of Disease in Childhood-Education and Practice Edition","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141753458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-18DOI: 10.1136/archdischild-2023-326725
Ian Scott Kendall, Rachel Bates, Steven Karyiannas, Andrew J Sands, Damien Kenny
{"title":"Weak femoral pulses post procedure.","authors":"Ian Scott Kendall, Rachel Bates, Steven Karyiannas, Andrew J Sands, Damien Kenny","doi":"10.1136/archdischild-2023-326725","DOIUrl":"10.1136/archdischild-2023-326725","url":null,"abstract":"","PeriodicalId":55471,"journal":{"name":"Archives of Disease in Childhood-Education and Practice Edition","volume":" ","pages":"202-204"},"PeriodicalIF":1.1,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140040911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-18DOI: 10.1136/archdischild-2023-326081
Eleni Syrimi, Shivani Bailey
{"title":"What are CAR T-cells?","authors":"Eleni Syrimi, Shivani Bailey","doi":"10.1136/archdischild-2023-326081","DOIUrl":"10.1136/archdischild-2023-326081","url":null,"abstract":"","PeriodicalId":55471,"journal":{"name":"Archives of Disease in Childhood-Education and Practice Edition","volume":" ","pages":"191-195"},"PeriodicalIF":1.1,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}