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Cyprus College
cycollege.ac.cy
The college was founded in 1961 with the purpose to provide a well rounded education of high calibre where students can acquire the necessary academic knowledge.
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Wroclaw University
international.uni.wroc.pl
Founded in 1702 by Leopold I Habsburg. Since the beginning of 20th century the university has produced 9 Nobel Prize winners.
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Volyn University
vdu.edu.ua
The history dates back to 1940. At present, the university includes 4 institutes, 14 faculties and 73 departments.
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Berkeley College
berkeleycollege.edu
Through the power of internet, Berkeley college online brings the classroom to you anywhere in the world with the same high level of support as On-Campus classes.
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AIS
ais.ac.nz
New Zealand's largest international degree provider. The programmes are focused on the global marketplace.
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WORLD UNIVERSITY DIRECTORY
Medical Education Archives of Disease in Childhood current issue
<sec id="s1"><st>Reining in—October 2023</st> <p>The hazel door swung ajar onto the penumbrally-lit corridor, the guttural scream of the hinges piercing the silence. The line of mute, quietly agitated applicants for the post uncomfortably positioned on the hard, lime green plastic chairs, reminiscent of museum pieces of 1960s furnishing, their survival having been secured wholly through their durability, providing the institution with a perfect excuse to ‘save resources for priority areas’.</p> <p>"Please come in, doctor." Grateful for the cursory introduction to the panel (mouth so dry as to glue tongue to palate) the interrogation began. The routine questions about qualities of a good doctor, lessons learnt, communication hurdles with the aplomb (a half smile maybe) hoped for given the advance rote learning. The benign-looking eminence-grise was the last to speak: the theme, research. In truth, the candidate would have acknowledged privately that the few citable case series perhaps weren’t world...
<p>Although Benjamin Franklin opined that death and taxation are the only certainties in this life, for most of us, the need to undergo a surgical procedure at some point is also inevitable. Society consequently has a vested interest in the outcomes of surgery being successful. Through recorded history, just surviving an operative intervention was regarded as near miraculous. Aseptic technique, anaesthesia and understanding of resuscitation made surgery safe, at least for first world populations, but the objective analysis of what surgeons do and the outcome of their activity is a relative novelty in historical terms. While the universal acceptance of Archie Cochrane’s insistence on randomised trials as proof of efficacy has ended many worthless interventions, we are still left with difficult questions when we think about surgery and what defines success and how we measure it.</p> <p>For some conditions, the definition of success would seem self-evident. Five-year disease-free survival...
<p>A 14-year-old girl, Hana, is admitted to the paediatric intensive care unit following a sudden collapse at home. She is found to have sustained a severe haemorrhagic stroke. Despite emergency neurosurgical intervention, she deteriorates over several days. Her family have been struggling to accept the possibility that she would not recover. Hana remains unresponsive, has fixed dilated pupils and has developed diabetes insipidus. The clinical team suspect that she is brain dead.</p> <p>Should the family’s consent be sought for brain death testing? (This case is fictitious.)</p> <p>In mid-2022, the high profile case of Archie Battersbee raised a number of ethical and legal questions about the medical care of children suspected to be brain dead, particularly in the setting of family disagreement.<cross-ref type="bib" refid="R1">1 2</cross-ref><cross-ref type="bib" refid="R2"></cross-ref> Ultimately in Archie’s case, formal brain death testing was not possible (because he did not meet the preconditions). However, there was a long...
<sec id="s1"><st>The purpose of consent</st> <p>English courts have confirmed the importance of consent prior to clinical interventions. Accepting that this is an essential prerequisite for lawful treatment, does consent serve any further purpose other than providing information?</p> <p>Children’s doctors have a duty to take reasonable steps to put the patient (or their parent) into a position where they can make an informed decision about whether to subject themselves to the proposed treatment. Court judgements echo the tone of ‘taking consent’ (a phrase so often used by doctors), construed as an acquisition. Lord Donaldson, <I>in Re W [1992] 4 All ER 627,</I> viewed consent as a ‘flak jacket’, thus casting the patient as an adversary; providing the doctor with protection from the accusation of unlawful practice.</p> <p>Neither construction adequately articulates the active provision of information. The notion of acquiring (‘taking’) something from the patient or parent which will protect the...
<sec><st>Objective</st>
<p>Limited population-based studies are available on the survival of congenital heart disease (CHD) from lower- and middle-income countries. Therefore, we evaluated the survival from birth until 15 years and associated factors for mortality.</p>
</sec>
<sec><st>Methods</st>
<p>This population-based cohort study included all children with CHD registered in the Pediatric Cardiology Clinical Information System born between 2006 and 2020 in Johor, Malaysia. The mortality rate was calculated, and Cox proportional hazard regression analysis was used to determine factors associated with mortality. The Kaplan-Meier analysis was used to estimate the survival rates at 1, 5, 10 and 15 years.</p>
</sec>
<sec><st>Results</st>
<p>There were 5728 patients with CHD studied, with 1543 (27%) lesions resolved spontaneously, 322 (5.6%) were treated with comfort care, 1189 (21%) required no intervention, and 2674 (47%) needed surgery or intervention. The overall mortality rate was 15%, with a median age of death of 3.7 months (IQR 0.9–9.8 months). Preoperative/intervention death was observed in 300 (11%), and 68 (3.2%) children died within 30 days of surgery or intervention. The overall estimated survival at 1, 5, 10 and 15 years was 88%, 85%, 84% and 83%, respectively. The independent factors associated with mortality were male gender, associated syndrome or extra-cardiac defect, pulmonary hypertension, antenatal diagnosis and severe lesions.</p>
</sec>
<sec><st>Conclusions</st>
<p>Eight out of 10 patients with CHDs survived up to 15 years of age. However, 10% of CHDs who require intervention die before the procedure. Thus, improving congenital cardiac surgery and enhancing the overall healthcare system are crucial to improve survival.</p>
</sec>
<p>Paediatric-onset inflammatory bowel disease (IBD) is a complex and heterogenous condition. Incidence of disease in those aged <18 years has doubled over the last 25 years, with concurrent increased prevalence and no decrease in disease severity. The tools available at diagnosis for investigation have developed over the last 10 years, including better utilisation of faecal calprotectin, improved small bowel imaging and video capsule endoscopy. Alongside this, management options have increased and include biological and small molecule therapies targeting alternative pathways (such as interleukin 12/23, integrins and Janus kinase/signal transducers and activators of transcription, JAK-STAT pathways) and better understanding of therapeutic drug monitoring for more established agents, such as infliximab. Dietary manipulation remains an interesting but contentious topic.</p>
<p>This review summarises some of the recent developments in the diagnosis, investigation and management of IBD in children and young people. IBD is increasingly recognised as a continuum of disease, with a proportion of patients presenting with classical Crohn’s disease or ulcerative colitis phenotypes. Future implementation of personalisation and stratification strategies, including clinical and molecular biomarkers, implementation of predictors of response and outcome and use of additional therapies, will continue to require working within clinical networks and multiprofessional teams.</p>
<sec><st>Objectives</st>
<p>Develop a score summarising how successfully a child with any surgical condition has been treated, and test the clinical validity of the score.</p>
</sec>
<sec><st>Design</st>
<p>Discrete choice experiment (DCE), and secondary analysis of data from six UK-wide prospective cohort studies.</p>
</sec>
<sec><st>Participants</st>
<p>253 people with lived experience of childhood surgical conditions, 114 health professionals caring for children with surgical conditions and 753 members of the general population completed the DCE. Data from 1383 children with surgical conditions were used in the secondary analysis.</p>
</sec>
<sec><st>Main outcome measures</st>
<p>Normalised importance value of attribute (NIVA) for number/type of operations, hospital-treated infections, quality of life and duration of survival (reference attribute).</p>
</sec>
<sec><st>Results</st>
<p>Quality of life and duration of survival were the most important attributes in deciding whether a child had been successfully treated. Parents, carers and previously treated adults placed equal weight on both attributes (NIVA=0.996; 0.798 to 1.194). Healthcare professionals placed more weight on quality of life (NIVA=1.469; 0.950 to 1.987). The general population placed more weight on survival (NIVA=0.823; 95% CI 0.708 to 0.938). The resulting score (the Children’s Surgery Outcome Reporting (CSOR) Treatment Success Score (TSS)) has the best possible value of 1, a value of 0 describes palliation and values less than 0 describe outcomes worse than palliation. CSOR TSSs varied clinically appropriately for infants whose data were included in the UK-wide cohort studies.</p>
</sec>
<sec><st>Conclusions</st>
<p>The CSOR TSS summarises how successfully children with surgical conditions have been treated, and can therefore be used to compare hospitals’ observed and expected outcomes.</p>
</sec>
<p>As a medical student <I>Archivist</I> learnt that the Sal’K’ polio vaccine [the inactivated polio vaccine (IPV)] was the ‘K’illed injected preparation and Sabin, live attenuated, polio vaccine was the oral preparation, often given to graduates of neonatal units on discharge! Oral polio vaccines have many advantages, they do induce systemic antibodies and mucosal immunity and they do prevent prolonged excretion of the virus and community transmission. The main worry is that some circulating vaccine-derived polioviruses (cVDPVs) lose attenuating mutations and they then cause paralytic disease. Ochoge M <I>et al</I> (<I>The Lancet</I> 2024;403:1164–1175. <A HREF="https://doi.org/10.1016/S0140-6736(23)02844-1">https://doi.org/10.1016/S0140-6736(23)02844-1</A>) have examined a novel oral poliovirus vaccine type 2 (nOPV2) that has been manufactured to improve the genetic stability of the Sabin oral poliovirus vaccine (OPV) and reduce the emergence of circulating vaccine-derived polioviruses. It is a phase three trial and they recruited 2345 infants and 600 young children recruited from MRC Unit of...
<sec><st>Objective</st>
<p>To quantify the characteristics of children admitted to neonatal units (NNUs) and paediatric intensive care units (PICUs) before the age of 2 years.</p>
</sec>
<sec><st>Design</st>
<p>A data linkage study of routinely collected data.</p>
</sec>
<sec><st>Setting</st>
<p>National Health Service NNUs and PICUs in England and Wales</p>
</sec>
<sec><st>Patients</st>
<p>Children born from 2013 to 2018.</p>
</sec>
<sec><st>Interventions</st>
<p>None.</p>
</sec>
<sec><st>Main outcome measure</st>
<p>Admission to PICU before the age of 2 years.</p>
</sec>
<sec><st>Results</st>
<p>A total of 384 747 babies were admitted to an NNU and 4.8% (n=18 343) were also admitted to PICU before the age of 2 years. Approximately half of all children admitted to PICU under the age of 2 years born in the same time window (n=18 343/37 549) had previously been cared for in an NNU.</p>
<p>The main reasons for first admission to PICU were cardiac (n=7138) and respiratory conditions (n=5386). Cardiac admissions were primarily from children born at term (n=5146), while respiratory admissions were primarily from children born preterm (<37 weeks’ gestational age, n=3550). A third of children admitted to PICU had more than one admission.</p>
</sec>
<sec><st>Conclusions</st>
<p>Healthcare professionals caring for babies and children in NNU and PICU see some of the same children in the first 2 years of life. While some children are following established care pathways (eg, staged cardiac surgery), the small proportion of children needing NNU care subsequently requiring PICU care account for a large proportion of the total PICU population. These differences may affect perceptions of risk for this group of children between NNU and PICU teams.</p>
</sec>
<sec><st>Objective</st>
<p>The aim of this study was to assess early language acquisitions in treated individuals with spinal muscular atrophy (SMA) type 1 and in infants identified by newborn screening (NBS).</p>
</sec>
<sec><st>Methods</st>
<p>Parents of SMA individuals aged between 8 and 36 months were asked to fill in the MacArthur-Bates Communicative Development Inventory (MB-CDI) that assesses comprehension, gesture and expressive skills. A follow-up assessment was performed in 21 of the 36.</p>
</sec>
<sec><st>Results</st>
<p>The MB-CDI was completed by parents of 24 type 1 and 12 infants identified by NBS. Comprehension skills were preserved in 81% of the type 1 SMA and in 87% infants identified by NBS. Gesture abilities were <5th centile in 55% of the type 1 SMA and in none of those identified by NBS. Lexical expressions were <5th centile in more than 80% type 1 SMA and in 50% of infants identified by NBS. At follow-up, despite an increase in lexical expression skills, the scores remained below the fifth centile in 43% type 1 SMA and in 86% of infants identified by NBS.</p>
</sec>
<sec><st>Conclusions</st>
<p>These results suggest that language and communication development may follow a similar pattern to that observed in motor function with the possibility to develop skills (eg, ability to say clear words) that are not usually present in untreated infants but with a level of performance that does not reach that of their typically developing peers.</p>
</sec>
<sec><st>Objective</st>
<p>To quantify the hospital care for children born with a major congenital anomaly up to 10 years of age compared with children without a congenital anomaly.</p>
</sec>
<sec><st>Design, setting and patients</st>
<p>79 591 children with congenital anomalies and 2 021 772 children without congenital anomalies born 1995–2014 in six European countries in seven regions covered by congenital anomaly registries were linked to inpatient electronic health records up to their 10th birthday.</p>
</sec>
<sec><st>Main outcome measures</st>
<p>Number of days in hospital and number of surgeries.</p>
</sec>
<sec><st>Results</st>
<p>During the first year of life among the seven regions, a median of 2.4% (IQR: 2.3, 3.2) of children with a congenital anomaly accounted for 18% (14, 24) of days in hospital and 63% (62, 76) of surgeries. Over the first 10 years of life, the percentages were 17% (15, 20) of days in hospital and 20% (19, 22) of surgeries. Children with congenital anomalies spent 8.8 (7.5, 9.9) times longer in hospital during their first year of life than children without anomalies (18 days compared with 2 days) and 5 (4.1–6.1) times longer aged, 5–9 (0.5 vs 0.1 days). In the first year of life, children with gastrointestinal anomalies spent 40 times longer and those with severe heart anomalies 20 times longer in hospital reducing to over 5 times longer when aged 5–9.</p>
</sec>
<sec><st>Conclusions</st>
<p>Children with a congenital anomaly consume a significant proportion of hospital care resources. Priority should be given to public health primary prevention measures to reduce the risk of congenital anomalies.</p>
</sec>
<sec><st>Introduction</st>
<p>This study reviews the first 3 years of delivery of the first National Health Service (NHS)-commissioned trio rapid whole genome sequencing (rWGS) service for acutely unwell infants and children in Wales.</p>
</sec>
<sec><st>Methods</st>
<p>Demographic and phenotypic data were prospectively collected as patients and their families were enrolled in the Wales Infants’ and childreN’s Genome Service (WINGS). These data were reviewed alongside trio rWGS results.</p>
</sec>
<sec><st>Results</st>
<p>From April 2020 to March 2023, 82 families underwent WINGS, with a diagnostic yield of 34.1%. The highest diagnostic yields were noted in skeletal dysplasias, neurological or metabolic phenotypes. Mean time to reporting was 9 days.</p>
</sec>
<sec><st>Conclusion</st>
<p>This study demonstrates that trio rWGS is having a positive impact on the care of acutely unwell infants and children in an NHS setting. In particular, the study shows that rWGS can be applied in an NHS setting, achieving a diagnostic yield comparable with the previously published diagnostic yields achieved in research settings, while also helping to improve patient care and management.</p>
</sec>
<sec><st>Objective</st>
<p>To assess whether there is a higher incidence of musculoskeletal consultations in general practice among children with obesity.</p>
</sec>
<sec><st>Design</st>
<p>Longitudinal</p>
</sec>
<sec><st>Setting</st>
<p>285 north-east London general practitioners (GPs).</p>
</sec>
<sec><st>Participants</st>
<p>63 418 (50.9% boys) Reception and 55 364 (50.8% boys) Year 6 National Child Measurement Programme (NCMP) participants, linked to GP electronic health records (EHRs).</p>
</sec>
<sec><st>Main outcome measure</st>
<p>A GP consultation with a recorded musculoskeletal symptom or diagnosis.</p>
</sec>
<sec><st>Methods</st>
<p>We calculated proportions with a musculoskeletal consultation by ethnic-adjusted weight status (underweight <2nd; overweight ≥91st; obese ≥98th centile), sex, ethnicity, and area-level deprivation. We estimated mutually-adjusted hazard ratios (HR) and 95% confidence intervals (95% CI) using Cox’s proportional regression models stratified by school year and sex.</p>
</sec>
<sec><st>Results</st>
<p>We identified 1868 (3.0%) Reception and 4477 (8.1%) Year 6 NCMP participants with at least one musculoskeletal consultation. In adjusted analyses, Reception year girls with a body mass index (BMI) classified as overweight (HR 1.24, 95% CI 1.02 to 1.52) or obese (HR 1.67, 95% CI 1.35 to 2.06) were more likely to have at least one musculoskeletal consultation. Year 6 girls with obesity were more likely (HR 1.20, 95% CI 1.07 to 1.35), and boys with a BMI in the underweight range were less likely (HR 0.39, 95% CI 0.21 to 0.73), to have a musculoskeletal consultation.</p>
</sec>
<sec><st>Conclusions</st>
<p>Girls living with obesity at the start or end of primary school are more likely to attend their GP for a musculoskeletal consultation. Routine linkage of NCMP data to EHRs provides useful insights into childhood health conditions related to excess weight in early childhood. Recognition of obesity as a contributing factor for musculoskeletal symptoms may inform clinical management, particularly in girls.</p>
</sec>
<sec><st>Objective</st>
<p>This study aimed to assess staff’s experience of wearing the Health Service Executive (HSE) Rainbow Badge, a symbol of inclusion for LGBTQ+ (lesbian, gay, bisexual, transgender, queer/questioning; + signifying inclusivity of all sexual and gender identities) people, in a paediatric hospital setting.</p>
</sec>
<sec><st>Design</st>
<p>This was a cross-sectional multisite observational study. Participants completed an anonymous online survey, consisting of open and closed-ended questions covering domains of: responses to the badge from staff and patients; experience and impact of wearing the badge; and further training needs.</p>
</sec>
<sec><st>Setting</st>
<p>All five sites (four clinical and one non-clinical) pertaining to the Children’s Health Ireland healthcare group.</p>
</sec>
<sec><st>Participants</st>
<p>All staff, clinical and non-clinical, who had signed up the HSE Rainbow Badge initiative were eligible to participate.</p>
</sec>
<sec><st>Results</st>
<p>A total of 151 eligible participants across a mix of disciplines participated, 29 (19.2%) of whom were members of the LGBTQ+ community. Over half (58.9%, n=89) of respondents said they learnt something new about barriers to care for LGBTQ+ young people from the initiative. Staff reported mostly positive responses to the badge; 5.1% reported mixed/negative responses from colleagues, 4.5% reported mixed/negative responses from young people and 3.7% reported mixed/negative responses from families. Open-ended questions were analysed using a thematic analysis framework. Five themes emerged: pride, a symbol of safety and inclusion, impact on workplace culture, awareness of LGBTQ+ issues and more to do for LGBTQ+ patients.</p>
</sec>
<sec><st>Conclusions</st>
<p>This study demonstrates that the Rainbow Badge initiative increases staff awareness of LGBTQ+ issues and helps to create a safe, inclusive environment for staff, young people and families.</p>
</sec>
<p>It is recognised that of those children who do have allergies (about 8% of the population), 30–80% have responses to multiple foods. A double blind, placebo-controlled, randomised clinical trial, the Omalizumab as Monotherapy and as Adjunct Therapy to Multi-Allergen Oral Immunotherapy in Food Allergic Participants (OUtMATCH) study is a three phase study comparing omalizumab to placebo in children with multiple food allergies and is in its first phase. The study then goes on to phase two, a longer-term (52 weeks) treatment with omalizumab with oral immunotherapy and then the third stage will assess the introduction of allergenic foods into the diet at home after discontinuation of treatment with omalizumab or oral immunotherapy. Wood RA <I>et al</I> (<I>N Engl J Med</I> 2024;390:889–899) have reported the results of the first study. They have recuited subjects aged 1 to 55 years of age who were allergic to peanuts and at least two...
<sec><st>Background</st>
<p>The American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia (PCD) consider the presence of a bi-allelic pathogenic variant confirmatory for the diagnosis of PCD, with genetic testing recommended when other confirmatory diagnostic tests are less accessible. We present our experience with genetic testing as first line with a proposed algorithm for high consanguinity populations.</p>
</sec>
<sec><st>Methods</st>
<p>Patients with a suspected diagnosis of PCD underwent genetic testing according to a diagnostic algorithm composed of three steps: (1) patients with a previously known causative familial/Bedouin tribal pathogenic variant completed direct testing for a single variant; (2) if the initial test was negative or there was no known pathogenic variant, a PCD genetic panel was completed; (3) if the panel was negative, whole exome sequencing (WES) was completed.</p>
</sec>
<sec><st>Results</st>
<p>Since the implementation of the protocol, diagnosis was confirmed by genetic testing in 21 patients. The majority of them were of Bedouin origin (81%) and had a positive history of consanguinity (65%). Nine patients (43%) had a sibling with a confirmed diagnosis. Most patients (15/21, 71%) were diagnosed by direct pathogenic variant testing and the remainder by genetic panel (19%) and WES (10%). Disease-causing variants were found in nine genes, with <I>DNAL1</I> (24%) and <I>DNAAF3</I>, <I>DNAAF5</I>, <I>ZMYND10</I> (14% each) as the most prevalent ones.</p>
</sec>
<sec><st>Conclusions</st>
<p>In highly consanguineous regions, a stepwise genetic testing approach is recommended. This approach may be particularly useful in areas where the ability to obtain confirmatory diagnostic tests through other modalities is less accessible.</p>
</sec>
<p>A 12-year-old boy with type 1 diabetes mellitus and coeliac disease reported 2–3 months of skin darkening at his insulin pump cannula and continuous glucose monitor sites (<cross-ref type="fig" refid="F1">figure 1</cross-ref>). For the preceding 9 months, he had localised itching and redness, which had been managed as allergic contact dermatitis by a dermatologist. He continued to use the dressings and these symptoms had improved. Hyperpigmentation was noted over his knuckles and periorally. He had no symptoms of adrenal insufficiency and was gaining weight (98th centile) and height (50th centile). A synacthen test had a suboptimal peak cortisol (370 nmol/L (>450 considered sufficient)) with a mildly raised adrenocorticotropic hormone (ACTH, 76 ng/L (0–46), sampled at 14:00), consistent with primary adrenal insufficiency. Serum sodium was low (132 mmol/L (133–146)), with an inappropriately normal aldosterone (298 pmol/L (110–1330)) and raised renin (660 mU/L (15–127)), suggesting mineralocorticoid deficiency. Positive adrenal antibodies confirmed Addison’s disease. After 3 months of hydrocortisone...
<p>The National Institute for Health and Care Excellence (NICE) published guidance on Babies, Children and Young People’s Experiences of Healthcare in 2021.<cross-ref type="bib" refid="R1">1</cross-ref> Seventeen systematic reviews provided evidence for recommendations, covering topics ranging from communication preferences to involving children and young people (CYP) in designing healthcare provisions. The United Nations Declaration on the Rights of the Child<cross-ref type="bib" refid="R2">2</cross-ref> sets out a right for children to be consulted on matters that affect them, supporting a societal trend towards including children in governance.<cross-ref type="bib" refid="R3">3</cross-ref> The NICE guideline committee therefore included young people who provided context and commentary on research evidence from their own experiences<cross-ref type="bib" refid="R4">4</cross-ref> and was further informed by focus groups of children. This helped both in understanding evidence and phrasing recommendations, and in addressing questions important to the young people where there was a lack of research that drew on CYP’s experiences of healthcare. In...
<p>A 16-year-old boy presented to the emergency department with a 2-week history of atraumatic left-sided chest pain. This was following a surfing holiday involving 3–4 hours of sessions daily. His pain started after extending his arm while surfing. Initial investigations including ECG and bloods were unremarkable except for mildly raised alkaline phosphatase. Chest X-ray (<cross-ref type="fig" refid="F1">figure 1</cross-ref>) revealed possible first rib fracture. CT of the chest (<cross-ref type="fig" refid="F2">figure 2</cross-ref>) confirmed the diagnosis and showed callus formation.</p> <p>First rib fractures are often the result of major trauma and are associated with injury to the great vessels or spine.<cross-ref type="bib" refid="R1">1</cross-ref> However, there are reports of atraumatic isolated first rib fractures secondary to forces from opposing muscles.<cross-ref type="bib" refid="R2">2</cross-ref> This has been reported in surfers, cheerleaders and basketball players.<cross-ref type="bib" refid="R2">2</cross-ref> It occurs when the neck is extended posterolaterally and a traction force is applied to the contralateral arm.<cross-ref type="bib"...
<p>Patricia Lockwood’s 2021 novel, <I>No One Is Talking About This</I>, demonstrates the challenge of rare diseases in childhood through its account of a family whose baby is diagnosed with Proteus syndrome.<cross-ref type="bib" refid="R1">1</cross-ref> Set in the USA, the book is divided into two distinct halves. The first concentrates on the social media obsession of the unnamed protagonist (the child’s aunt); in the second, the narrative focuses on the baby’s diagnosis. <I>No One Is Talking About This</I> is autofictional—Lockwood dedicates the book to her niece, who lived for 6 months with Proteus syndrome. Fiction can help illustrate the experiences of parents and caregivers to children living with rare diseases. Paediatricians and other child health professionals can gain useful insights about families’ experiences of childhood rare diseases and life-limiting disease from the novel.</p> <p>Proteus syndrome is a rare, sporadic, genetic disease caused by mosaic mutations of the AKT1 gene.<cross-ref type="bib" refid="R2">2</cross-ref>...
<sec id="s1"><st>Scenario</st> <p>A baby born via an uneventful delivery in the birth centre was unwell after delivery. They were found to have electrolyte abnormalities on blood tests and ambiguous genitalia.</p> <p>They were admitted to the neonatal unit and a postnatal diagnosis of congenital adrenal hyperplasia (CAH) was made after investigations.</p> </sec> <sec id="s2"><st>Structured clinical question</st> <p>How can healthcare professionals deliver a diagnosis of differences in sex development (DSD) to parents of affected children (<I>population</I>), and support parents’ psychological needs around diagnosis (<I>intervention</I>), in a way that promotes positive parental mental health (<I>outcome</I>)?</p> </sec> <sec id="s3"><st>Search</st> <p>A search of the Cochrane Library was done using the MeSH term ‘Disorders of Sex Development’; no relevant systematic reviews were found.</p> <p>PubMed was searched from May to June 2023 using the search terms ‘Disorders of Sex Development (MeSH) AND (experience OR psycho* OR mental OR well-being OR emotion*) AND (parent(s) OR mother(s) OR...
<sec><st>What could it be?</st> <p>It is often the case we would like to know what the chances of different types of diagnosis are, or the chance of a scan finding something or some things with a presentation. These types of questions can be answered in an ‘evidence-based’ way, but they rarely are even thought about let alone addressed.</p> <p>Their appraisal should follow the same model as others; does the paper produce valid findings? Are they meaningful and important? How far is the paper from the population or patient I am thinking of—too far to be helpful? Validity is best gained from an appropriate population, evaluated with fair diagnostic standards and if subgroups proposed, done without data dredging or microblading. Importance is partly about the certainty any ranking or proportions can get—these relate largely to numbers—and how if there were ‘wobbles’ in the ordering this might make a difference. The...
<p>Pressurised metered-dose inhalers (pMDIs) containing salbutamol are an essential medicine for children with acute asthma. Salamol chlorofluorocarbon-free inhaler (‘Salamol’; IVAX Pharmaceuticals, Waterford, Ireland) is the most widely prescribed salbutamol pMDI in England (<cross-ref type="fig" refid="F1">figure 1</cross-ref>), costing the National Health Service £7.2 million in the 2022–23 financial year.<cross-ref type="bib" refid="R1">1</cross-ref> In common with the other salbutamol pMDIs it lacks an integrated dose counter (IDC). Without an IDC, most children and families cannot accurately identify when a pMDI is empty.<cross-ref type="bib" refid="R2">2</cross-ref> Thus, families may continue to use a pMDI that contains no active medicine, posing a safety risk in the event of an asthma attack. Additionally, patients may dispose of a pMDI that still contains medicine, worsening the already large environmental impact of these inhalers.<cross-ref type="bib" refid="R3">3</cross-ref> Expanding on previous work using Ventolin pMDIs, we aimed to assess the feasibility of families using Salamol canister weight to estimate remaining...
<sec id="s1"><st>Introduction</st> <p>The investigation of suspected paediatric non-accidental injury in children under 2 years of age includes a skeletal survey, which is also indicated in older children on a case-by-case basis. In 2018, the UK national standards for the ‘radiological investigation of suspected physical abuse in children’ were updated by relevant radiology and radiography bodies and endorsed by the Royal College of Paediatrics and Child Health.<cross-ref type="bib" refid="R1">1</cross-ref> The standards now mandate a skeletal survey within 72 hours of presentation, ideally within 24 hours. Initial and targeted follow-up images facilitate the crucial timing of any bony injuries that the child has sustained. The medicolegal implications are clear, and ultimately, the child and family’s future may depend on accurate radiological diagnosis.</p> <p>The standards make little reference to critically ill or injured children other than to acknowledge those with serious injury may require paediatric intensive care (PIC). However, severely injured children with...
<p>Metered dose inhalers (MDIs), due to their reliability and ease of delivery of medications, have been commonly used in the treatment of asthma. The National Institute for Health and Care Excellence quality standards (2018) recommend assessment of adherence, medication review and inhaler technique at every asthma review. The MDIs contain a propellant along with an active drug to expel the labelled number of actuations. This design feature makes it difficult for patients to identify when their inhaler is empty. Studies have shown that up to 86 actuations can be done just with the inhaler propellant after all the medication has been used up. We have previously shown that parents/patients are unable to identify when the inhaler is empty.<cross-ref type="bib" refid="R1">1</cross-ref></p> <p>Many preventer inhalers have a dose counter which helps patients in identifying the number of actuations remaining. The salbutamol inhaler is a critical reliever medication used during acute asthma...
<p>A boy aged 11 months presented to his local hospital with a short history of being febrile with vomiting. He was found to be shocked with a pulsed broad complex tachycardia of around 240 and increased work of breathing. He was managed as per the APLS (Advanced Paediatric Life Support) protocol and had short-lived terminations after his first two shocks. He was loaded with amiodarone over 5 min prior to his third shock, but promptly arrested with loss of electrical activity requiring 20 min cardiopulmonary resuscitation. This transitioned to a return of broad complex tachycardia with output and a further 20 min of shocks and epinephrine until a narrow complex rhythm was achieved and the paediatric critical care transport service (PCCTS) transferred him out shortly thereafter.</p> <p>This case highlights the risk of bolus or fast administration of amiodarone. The team accurately followed APLS guidance at the time, however this has since been...
<p>A massive and rapidly increasing burden of care exists for all physicians caring for the 80–90% of childhood cancer survivors. All paediatricians and general practitioners (GPs) seeing these adolescents must attain a sound knowledge of the risks, current and future, faced by these young people. Provision of improved care and appropriate surveillance during adolescence, with information for adult services at time of transition, will also empower patients and their families to advocate for and act upon the essential requirements for long-term surveillance. Not all these risks are yet commonly recognised.</p> <p>Exposure to abdominal radiation for childhood cancer increases risks of gastrointestinal polyps and colorectal cancer (CRC), level comparable with two or more first-degree relatives with CRC.<cross-ref type="bib" refid="R1">1</cross-ref> Radiation-associated CRC is defined by malignancy arising within the field of prior abdominal radiation, usually ≥10 years after irradiation.</p> <p>Consensus recommendation and firm clinical guidelines from both the Children’s Oncology Group...
<p>Respiratory tract infections contribute significantly to paediatric intensive care unit (PICU) admissions. Early diagnosis supports treatment, cohorting and antimicrobial stewardship. Rapid point-of-care (POC) multiplex PCR techniques show promise in improving antimicrobial and investigation stewardship across healthcare settings.<cross-ref type="bib" refid="R1">1</cross-ref> However, debate exists regarding their role and accuracy.<cross-ref type="bib" refid="R2">2 3</cross-ref><cross-ref type="bib" refid="R3"></cross-ref> We sought to evaluate the feasibility and accuracy of respiratory pathogen POC testing in our PICU.</p> <p>All patients admitted to the regional Northern Ireland PICU undergo nasal/nasopharyngeal swab respiratory pathogen POC testing. The BioFire FilmArray BFRP2.1 panel (<cross-ref type="tbl" refid="T1">table 1</cross-ref>) is used which provides results in under an hour. Simultaneously, laboratory-based viral and microbiological testing is performed at the clinician’s discretion. All laboratory testing is undertaken by the Regional Laboratories using standard molecular and non-molecular techniques, with results taking up to 48 hours. Here, we report a retrospective service evaluation of all PICU respiratory pathogen POC...
<sec id="s1"><st>Fruit juice – good for you?</st> <p>Child or adult, drinking fruit juice must be a great way of contributing to your five-a-day of fruits and vegetables. There is a lot of free sugar in 100% fruit juice and no fibre. Do these high sugar drinks contribute to obesity? Nguyen M <I>et al</I> (<I>JAMA Pediatr</I> 2024;178:237–246) have completed a systematic review focussing on the evidence that fruit juice has an impact on weight gain and BMI by examining MEDLINE, Embase, and Cochrane databases searching up to 18 May 2023. They looked for prospective cohort studies of at least 6 months and randomised clinical trials (RCTs) of at least 2 weeks assessing the association of 100% fruit juice with body weight change in children and adults. They identified 42 eligible studies with 17 cohort studies (but interestingly no RCTs) involving 45 851 children with a median (IQR) age of 8...
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