Definition of sinonasal and otological exacerbation in patients with primary ciliary dyskinesia: an expert consensus.

Background: Recurrent infections of the nose, sinuses and ears are common problems for people with primary ciliary dyskinesia. While pulmonary exacerbations in primary ciliary dyskinesia are defined, there is no definition for ear-nose-throat exacerbations, a potential outcome for research and clinical trials.

Methods: We set up an expert panel of 24 ear-nose-throat specialists, respiratory physicians, other healthcare professionals and patients to develop consensus definitions of sinonasal and otological exacerbations in children and adults with primary ciliary dyskinesia for research settings.

Non-operative Versus Operative Management of Perianal Abscess in Infants: A 10-year Retrospective Study at Two Centres in the United Kingdom.

Background: Perianal abscess (PA), with or without fistula-in-ano (FIA) is common in infants. Treatment options include incision and drainage under general anaesthesia or non-operative treatments, such as antibiotics and/or aspiration under local anaesthetic, which avoid the risks of surgery. Current management is based on surgeon preference due to a poor underlying evidence base.

Can a Surgical Vulnerability Score Predict Outcomes of Hip Reconstruction in Children with Severe Neuromuscular Disability?

Background: Hip surgery is often necessary for children with severe neuromuscular disabilities to avoid chronic pain resulting from hip migration. This study correlated the Surgical Vulnerability Score (SVS), a novel measure of physiological reserve, with reconstructive hip surgery outcomes to improve shared surgical decision-making.

Materials And Methods: Sixty-eight cases performed by a single surgeon were retrospectively evaluated.

Management of Ganglioneuroma and Ganglioneuroblastoma Intermixed: A United Kingdom Children's Cancer and Leukaemia Group (UK CCLG) Nationwide Study Report.

Background: Ganglioneuroblastoma intermixed (GNBi) and ganglioneuroma (GN) represent benign variants of peripheral neuroblastic tumours. While historically surgical resection was recommended, watchful active observation has become the accepted management for a subset of patients.

Objectives: To review clinical features, biology, natural history and management of a retrospective UK CCLG study cohort of GN and GNBi, and compare outcomes of patients treated with surgical resection or watchful active observation.

Real-world impact of Elexacaftor-Tezacaftor-Ivacaftor treatment in young people with Cystic Fibrosis: A longitudinal study.

Background: Elexacaftor, Tezacaftor, Ivacaftor (ETI) became available in the UK in August 2020 to treat people with Cystic Fibrosis (CF) aged >12 years. We report a real-world study of clinical outcomes in young people treated with ETI at our CF centre within the first two years of its availability.

Methods: Participants aged 12-17 were identified within our clinic, with demographic data supplemented by the UK CF registry.

Prenatally Diagnosed Holoprosencephaly: Review of the Literature and Practical Recommendations for Pediatric Neurologists.

Holoprosencephaly (HPE) is one of the most common malformations in embryonic development. HPE represents a continuum spectrum that involves the midline cleavage of forebrain structures. Facial malformations of varying degrees of severity are also observed.

The Diagnostic Value of Immunohistochemistry Markers in Hirschsprung Disease; A Systematic Review and Meta-analysis.

Background: Immunohistochemistry (IHC) markers are employed to improve the diagnostic yield when testing for Hirschsprung disease (HSCR). Yet, a superior test has not been identified.

Objectives: We aimed to determine the diagnostic test accuracy (DTA) of IHC markers.

Closed-Loop Therapy and Sleep in Young People Newly Diagnosed With T1D and Their Parents.

Background: A diagnosis of type 1 diabetes in a young person can create vulnerability for sleep. Historically it has been rare for young people to be offered a closed-loop system soon after diagnosis meaning that studies examining sleep under these circumstances in comparison with standard treatment have not been possible. In this study, we examine sleep in young people (and their parents) who were provided with hybrid closed-loop therapy at diagnosis of type 1 diabetes versus those who receive standard treatment over a 2-year period.

The circulating methylome in childhood-onset inflammatory bowel disease.

The genetic contribution to inflammatory bowel disease (IBD) encompassing both Crohn's disease (CD) and ulcerative colitis (UC), accounts for around 20% of disease variance, highlighting the need to characterise environmental and epigenetic influences. Recently considerable progress has been made in characterising the adult methylome, in epigenome-wide association studies. We report detailed analysis of the circulating methylome in 86 patients with childhood-onset CD,UC and 30 controls using the Illumina Infinium Human MethylationEPIC platform.

Pregnancy vitamin D supplementation and offspring bone mineral density in childhood follow-up of a randomized controlled trial.

Background: Findings from the Maternal Vitamin D Osteoporosis Study (MAVIDOS) trial demonstrated a positive effect of gestational cholecalciferol supplementation on offspring bone mineral density (BMD) at age 4 y. Demonstrating the persistence of this effect is important to understanding whether maternal vitamin D supplementation could be a useful public health strategy to improving bone health.

Objectives: We investigated whether gestational vitamin D supplementation increases offspring BMD at ages 6-7 y in an exploratory post-hoc analysis of an existing trial.

Transport of critically ill children to paediatric intensive care units in the UK and Ireland: 2013-2022.

Objective: To explore the trends and changes in the transport of children to paediatric intensive care units (PICUs) between 2013 and 2022.

Design: Retrospective analysis of routinely collected data.

Patients: Children transported for care in a PICU in the UK and Ireland aged<16 years.

Acquired colonic atresia in children: a report of three cases and review of the literature.

We describe cases of three infants who developed acquired colonic atresia presumed secondary to significant systemic cardiovascular compromise and in the absence of necrotizing enterocolitis. An acquired colonic atresia may present as feed intolerance and should be investigated with a lower gastrointestinal contrast study. We would also recommend routine lower gastrointestinal contrast study prior to stoma closure in an infant with history of significant cardiovascular compromise, even in the absence of significant widespread colonic inflammation such as necrotizing enterocolitis.

Intermediate vs. High Oxygen Saturation Targets in Preterm Infants: A National Cohort Study.

Introduction: Optimal oxygen saturation targets remain unknown for extremely preterm infants.

Methods: Cohort analysis of eligible preterm infants born <29 weeks' gestation admitted between 2011 and 2018 to centers submitting data to the Canadian Neonatal Network (CNN) database. Site questionnaires to determine saturation targets, alarm settings, and date of change, allowed assignation of centers to intermediate (88-93%) or high (90-95%) saturation targets.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Background: Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with imprinting disorders have DNA methylation changes at multiple imprinted loci, a condition referred to as multi-locus imprinting disturbance (MLID). MLID is recognised in most but not all imprinting disorders and is also found in individuals with atypical clinical features; the presence of MLID often alters the management or prognosis of the affected person.

Elicitation of expert prior opinion to design the BARJDM trial in juvenile dermatomyositis.

Objectives: To elicit and quantify expert opinion concerning the relative merits of two treatments for a rare inflammatory disease: Juvenile dermatomyositis (JDM). The formal expression of expert opinion reported in this paper will be used in a Bayesian analysis of a forthcoming randomised controlled trial known as BARJDM (baricitinib for juvenile dermatomyositis).

Methods: A Bayesian prior elicitation meeting was convened, following a previously described methodological template.

Socioeconomic disparities in the postnatal growth of preterm infants: a systematic review.

Objective: To determine the effect of parental socioeconomic status (SES) on the postnatal growth of preterm infants.

Methods: A systematic review (PROSPERO registration CRD42020225714) of original articles from Medline, Embase, CINAHL Plus and Web of Science published 1946-2023 was undertaken. Studies were included if they reported anthropometric growth outcomes for preterm infants according to parental SES.

Diagnosis and management of selective fetal growth restriction in monochorionic twin pregnancies: A cross-sectional international survey.

Objective: To identify current practices in the management of selective fetal growth restriction (sFGR) in monochorionic diamniotic (MCDA) twin pregnancies.

Design: Cross-sectional survey.

Setting: International.

Fifteen-minute consultation: Empowering children, young people and families through shared decision-making: a practical guide.

Shared decision-making (SDM) is a collaborative approach to healthcare decision-making that involves patients and healthcare professionals working together to make decisions that are informed by the best available medical evidence, as well as the patient's values, preferences and goals. The importance of SDM and the intricate interplay among parents, children and young people (CYP), and healthcare professionals are increasingly acknowledged as the crucial aspects of delivering high-quality paediatric care. While there is a substantial evidence base for SDM improving knowledge and reducing decisional conflict, the evidence for long-term measures such as improved health outcomes is limited and mainly inconclusive.

Effect of 48 Months of Closed-Loop Insulin Delivery on Residual C-Peptide Secretion and Glycemic Control in Newly Diagnosed Youth With Type 1 Diabetes: A Randomized Trial.

Objective: We evaluated the effect of long-term intensive metabolic control with hybrid closed-loop (CL) on residual C-peptide secretion and glucose control compared with standard insulin therapy in youth with type 1 diabetes over 48 months.

Research Design And Methods: Following the 24-month primary phase of a multicenter, randomized, parallel trial of 96 newly diagnosed youth aged 10 to 16.9 years, participants were invited to an extension phase using treatment allocated at randomization.