A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.

Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.

Who develops chronic pain after an acute lower limb injury? A longitudinal study of children and adolescents.

Prevention of chronic pain is a major challenge in this area of clinical practice. To do this, we must be able to understand who is most at risk of developing chronic pain after an injury. In this study, we aimed to identify risk factors of chronic pain onset, disability, and pain interference after a lower limb musculoskeletal injury in children and adolescents between 8 to 16 years of age.

Influence of improved antenatal detection on the outcomes of complete atrioventricular block diagnosed in fetal-neonatal life and childhood periods - a single-centre experience in South Wales for 55 years.

Objective: This study aimed to analyse the influence of improved antenatal detection on the course, contemporary outcomes, and mortality risk factors of the complete atrioventricular block during fetal-neonatal and childhood periods in South Wales.

Methods: The clinical characteristics and outcomes of complete atrioventricular block in patients without structural heart disease at the University Hospital of Wales from January 1966 to April 2021 were studied. Patients were divided into two groups according to their age at diagnosis: I-fetal-neonatal and II-childhood.

Long-term patient-centred outcomes of periacetabular osteotomy in a large consecutive series.

Aims: We assessed the long-term outcomes of a large cohort of patients who have undergone a periacetabular osteotomy (PAO), and sought to validate a patient satisfaction questionnaire for use in a PAO cohort.

Methods: All patients who had undergone a PAO from July 1998 to February 2013 were surveyed, with several patient-reported outcome measures (PROMs) and radiological measurements of preoperative acetabular dysplasia and postoperative correction also recorded. Patients were asked to rate their level of satisfaction with their operation in achieving pain relief, restoration of activities of daily living, ability to perform recreational activity, and their overall level of satisfaction with the procedure.

The Impact of Morbidities Following Pediatric Cardiac Surgery on Family Functioning and Parent Quality of Life.

We previously selected and defined nine important post-operative morbidities linked to paediatric cardiac surgery, and prospectively measured their incidence following 3090 consecutive operations. Our aim was to study the impact of these morbidities on family functioning and parental quality of life over 6 months in a subset of cases. As part of a prospective case matched study in five of the ten children's cardiac centers in the UK, we compared outcomes for parents of children who had a 'single morbidity', 'multiple morbidities', 'extracorporeal life support (ECLS)' or 'no morbidity'.

Phenotypic Variability in PRKCD: a Review of the Literature.

Purpose: Protein kinase C δ (PKCδ) deficiency is a rare genetic disorder identified as a monogenic cause of systemic lupus erythematosus in 2013. Since the first cases were described, the phenotype has expanded to include children presenting with autoimmune lymphoproliferative syndrome-related syndromes and infection susceptibility similar to chronic granulomatous disease or combined immunodeficiency. We review the current published data regarding the pathophysiology, clinical presentation, investigation and management of PKCδ deficiency.

Pediatrician Explanations of Pediatric Pain in Clinical Settings: A Delicate Craft.

Explaining chronic pain to children and families can be challenging, particularly in the absence of an obvious physiologically identifiable cause for the child's pain. In addition to medical intervention, children and families may expect clinicians to provide clarity around the cause of pain. Such explanations are often provided by clinicians who have not received formal pain training.

A large single-center experience in management of pediatric intussusception.

Background: The objective of this study was to present the results of a comprehensive single-center study of the management and outcome of intussusception over a 10-year period and to review the recent literature.

Methods: A retrospective analysis was carried out of all children less than 16 years old, admitted with intussusception to our tertiary center between January 2007 and December 2016. Air enema was attempted routinely, with primary surgery reserved for selected cases.

The Relationship Between Postoperative Complications and Children's Quality of Life: A Mediation Analysis to Explore the Role of Family Factors.

Objectives: To explore whether postoperative morbidities after pediatric cardiac surgery affected children's health-related quality of life (HRQOL) at 6 months, through potentially modifiable parental psychological factors.

Design: We undertook a mediation analysis, to explore the causal pathway, based on data from a prospective, case-matched cohort study.

Patients: Six hundred sixty-six children undergoing cardiac surgery.

Postoperative morbidities with infant cardiac surgery and toddlers' neurodevelopment.

Objective: To evaluate the relationship between morbidities after infant cardiac surgery and neurodevelopment and behaviour at age 2-3 years.

Design/setting: A prospective cohort follow-up study, in four paediatric cardiac centres. We excluded children with known syndromes.

Periorbital and orbital cellulitis in children: a survey of emergency physicians and analysis of clinical practice guidelines across the PERUKI network.

Background: Due to limited evidence to guide management of periorbital cellulitis (POC), we surveyed current practice and assessed quality and consistency of local clinical practice guidelines (CPGs) to highlight future research priorities.

Methods: A web-based survey was sent to a designated emergency physician (who clinically assesses children) at Paediatric Emergency Research United Kingdom and Ireland (PERUKI) sites between 23 November 2018 to 22 January 2019. A nominated site lead offered one response as a department-wide perspective on admission, severity assessment, treatment, disposition and specialty consultation request.

Comparative analysis of major incident triage tools in children: a UK population-based analysis.

Introduction: Triage is a key principle in the effective management of major incidents. There is currently a paucity of evidence to guide the triage of children. The aim of this study was to perform a comparative analysis of nine adult and paediatric triage tools, including the novel 'Sheffield Paediatric Triage Tool' (SPTT), assessing their ability in identifying patients needing life-saving interventions (LSIs).

Mortality in adolescent trauma: a comparison of children's, mixed and adult major trauma centres.

Objective: We aimed to compare adolescent mortality rates between different types of major trauma centre (MTC or level 1; adult, children's and mixed).

Methods: Data were obtained from TARN (Trauma Audit Research Network) from English sites over a 6-year period (2012-2018), with adolescence defined as 10-24.99 years.

Morbidities After Cardiac Surgery: Impact on Children's Quality of Life and Parents' Mental Health.

Background: Most children now survive cardiac surgery, and the focus of quality improvement initiatives has shifted toward more complex outcome measures. The aim of this investigation was to study the impact of early postoperative morbidities on parent-reported patient quality of life and parental anxiety or depression over 6 months.

Methods: This prospective case-matched cohort study was conducted in 5 UK children's cardiac centers.

'Drawing a line in the sand': Physician diagnostic uncertainty in paediatric chronic pain.

Background: Diagnostic uncertainty is the subjective perception of an inability to provide an accurate explanation of the patient's health problem or that a label is missing or incorrect. While recently explored in youth with chronic pain and families, this is the first study to investigate diagnostic uncertainty from the perspectives of physicians.

Methods: Individual, semi-structured interviews were conducted with 16 paediatricians who assess and/or treat youth who experience complex chronic pain.

Planning for success: overcoming challenges to recruitment and conduct of an open-label emergency department-led paediatric trial.

Background: Key challenges to the successful conduct of The Emergency treatment with Levetiracetam or Phenytoin in Status Epilepticus in children (EcLiPSE) trial were identified at the pre-trial stage. These included practitioner anxieties about conducting research without prior consent (RWPC), inexperience in conducting an ED-led trial and use of a medication that was not usual ED practice. As part of an embedded study, we explored parent and practitioner experiences of recruitment, RWPC and conduct of the trial to inform the design and conduct of future ED-led trials.

Seven-step framework to enhance practitioner explanations and parental understandings of research without prior consent in paediatric emergency and critical care trials.

Background: Alternatives to prospective informed consent enable the conduct of paediatric emergency and critical care trials. Research without prior consent (RWPC) involves practitioners approaching parents after an intervention has been given and seeking consent for their child to continue in the trial. As part of an embedded study in the 'Emergency treatment with Levetiracetam or Phenytoin in Status Epilepticus in children' (EcLiPSE) trial, we explored how practitioners described the trial and RWPC during recruitment discussions, and how well this information was understood by parents.

Epidemiology of adolescent trauma in England: a review of TARN data 2008-2017.

Objectives: Trauma contributes significantly to adolescent morbidity and mortality. We aimed to ascertain the epidemiology of adolescent trauma to inform prevention strategies.

Methods: Data were abstracted from TARN (Trauma Audit Research Network) from English sites over a 10-year period (2008-2017).

Incidence and risk factors for important early morbidities associated with pediatric cardiac surgery in a UK population.

Objective: Given excellent 30-day survival for pediatric cardiac surgery, other outcome measures are important. We aimed to study important early postoperative morbidities selected by stakeholders following a rigorous and evidenced-based process, with a view to identifying potential risk factors.

Methods: The incidence of selected morbidities was prospectively measured for 3090 consecutive pediatric cardiac surgical admissions in 5 UK centers between October 2015 and June 2017.

Pharmacological interventions for chronic pain in children: an overview of systematic reviews.

We know little about the safety or efficacy of pharmacological medicines for children and adolescents with chronic pain, despite their common use. Our aim was to conduct an overview review of systematic reviews of pharmacological interventions that purport to reduce pain in children with chronic noncancer pain (CNCP) or chronic cancer-related pain (CCRP). We searched the Cochrane Database of Systematic Reviews, Medline, EMBASE, and DARE for systematic reviews from inception to March 2018.

Canadian and UK/Ireland practice patterns in lumbar puncture performance in febrile neonates with bronchiolitis.

Background: Serious bacterial infections in young infants with bronchiolitis are rare. Febrile infants <1 month old with bronchiolitis often receive a lumbar puncture (LP), despite limited data for this practice and lack of clinical practice guidelines for this population. The primary objective was to investigate practice patterns in performance of LPs in the ED management of febrile infants aged ≤30 days with bronchiolitis.