Molecular subgroup of medulloblastoma: evaluation of contribution to CSF diversion following tumour resection.

Introduction: Medulloblastoma is the commonest malignant brain tumour in children. Pre-operative hydrocephalus is present in up to 90% of these patients at presentation. Following posterior fossa surgery, despite resolution of fourth ventricular obstruction, a proportion of these children will still require cerebrospinal fluid (CSF) diversion for management of persistent or new hydrocephalus.

Using Microbiology Culture in Pediatric Appendicitis to Risk Stratify Patients: A Cohort Study.

We sought to investigate the value of intra-operative microbiology samples in pediatric appendicitis. Proposed benefits include tailoring post-operative antimicrobial management, risk-stratifying patients, and reducing post-operative intra-abdominal abscess formation. All cases of appendicitis managed with appendicectomy in a single center were collected from January 2015 to August 2020.

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

Background: Desmosomes are complex cell junction structures that connect intermediate filaments providing strong cell-to-cell adhesion in tissues exposed to mechanical stress.

Objectives: To identify causal variants in individuals with woolly hair and skin fragility of unknown genetic cause.

Methods: This research was conducted using whole-genome sequencing, whole-exome sequencing, clinical phenotyping, haplotype analysis, single-cell RNA sequencing data analysis, immunofluorescence microscopy and transmission electron microscopy.

Diagnosing Acute Cellular Rejection after Paediatric Liver Transplantation-Is There Room for Interleukin Profiles?

Background: The current gold standard to diagnose T-cell-mediated acute rejection (TCMR) requires liver histology. Using data from the ChilSFree study on immune response after paediatric liver transplantation (pLT), we aimed to assess whether soluble cytokines can serve as an alternative diagnostic tool in children suspected to have TCMR.

Methods: A total of n = 53 blood samples obtained on the day of or up to 3 days before liver biopsy performed for suspected TCMR at median 18 days (range 7-427) after pLT in n = 50 children (38% female, age at pLT 1.

T-cell replete cord transplants give superior outcomes in high-risk and relapsed/refractory pediatric myeloid malignancy.

Stem cell transplant (SCT) outcomes in high-risk and relapsed/refractory (R/R) pediatric acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) have been historically poor. Cord blood (CB) allows T-cell replete CB transplant (TRCB), enabling enhanced graft-versus-leukemia. We consecutively collected data from 367 patients undergoing TRCB (112 patients) or other cell source (255 patients) SCT for pediatric AML/MDS in the United Kingdom and Ireland between January 2014 and December 2021.

Identifying new biomarkers of aggressive Group 3 and SHH medulloblastoma using 3D hydrogel models, single cell RNA sequencing and 3D OrbiSIMS imaging.

The most common malignant brain tumour in children, medulloblastoma (MB), is subdivided into four clinically relevant molecular subgroups, although targeted therapy options informed by understanding of different cellular features are lacking. Here, by comparing the most aggressive subgroup (Group 3) with the intermediate (SHH) subgroup, we identify crucial differences in tumour heterogeneity, including unique metabolism-driven subpopulations in Group 3 and matrix-producing subpopulations in SHH. To analyse tumour heterogeneity, we profiled individual tumour nodules at the cellular level in 3D MB hydrogel models, which recapitulate subgroup specific phenotypes, by single cell RNA sequencing (scRNAseq) and 3D OrbiTrap Secondary Ion Mass Spectrometry (3D OrbiSIMS) imaging.

Research priorities in children and adults with congenital heart disease: a James Lind Alliance Priority Setting Partnership.

Objective: To bring together patients, parents, charities and clinicians in a Priority Setting Partnership to establish national clinical priorities for research in children and adults with congenital heart disease.

Methods: The established James Lind Alliance methodology was used to identify and prioritise research on the management of congenital heart disease, focusing on diagnosis, treatment and outcomes. An initial open survey was used to gather potential uncertainties which were filtered, categorised, converted into summary questions and checked against current evidence.

CGM accuracy: Contrasting CE marking with the governmental controls of the USA (FDA) and Australia (TGA): A narrative review.

The National Institute for Clinical Excellence updated guidance for continuous glucose monitoring (CGM) in 2022, recommending that CGM be available to all people living with type 1 diabetes. Manufacturers can trade in the UK with Conformité Européenne (CE) marking without an initial national assessment. The regulatory process for CGM CE marking, in contrast to the Food and Drug Administration (FDA) and Australian Therapeutic Goods Administration (TGA) process, is described.

Making sense of the paediatric ECG: P waves.

Follow-up article on ECG Interpretation series.

Educational interventions to reduce nurse medication interruptions: A scoping review.

Background: Preventable harm from medicines is a global problem creating huge economic and social burden. Interruptions occur frequently in clinical environments causing medication episodes to take longer and having a cognitive cost on the nurse.

Aim: The aim of this scoping review is to identify and evaluate educational interventions that have been employed to reduce medication interruptions and improve medication safety.

Suitability and Allocation of Protein-Containing Foods According to Protein Tolerance in PKU: A 2022 UK National Consensus.

Introduction: There is little practical guidance about suitable food choices for higher natural protein tolerances in patients with phenylketonuria (PKU). This is particularly important to consider with the introduction of adjunct pharmaceutical treatments that may improve protein tolerance. Aim: To develop a set of guidelines for the introduction of higher protein foods into the diets of patients with PKU who tolerate >10 g/day of protein.

Real world experience of efficacy and safety of rivaroxaban in paediatric venous thromboembolism.

Introduction: Paediatric clinical practice for treatment of venous thromboembolism (VTE) is based on extrapolation from adult trials with minimal data on anticoagulation efficacy and safety in children. Based on EINSTEIN-Jr clinical trial data, rivaroxaban was approved to treat VTE and prevent its recurrence in children of all ages.

Aim: To report the safety and efficacy of rivaroxaban use in paediatric VTE and to present real-world data, specifically about very young children.

The Incidence and Outcomes for Children with Cleft Palate and/or Lip and CHARGE Syndrome.

Objectives: Published literature on children with cleft palate and/or lip (CP + /-L) and CHARGE syndrome (CS) is limited. This study investigated cleft characteristics including surgery, and feeding and communication outcomes in children identified with CP + /-L and CS.

Design: Retrospective cross-sectional review.

Intensive compared with less intensive blood pressure control to prevent adverse cardiac remodelling in children with chronic kidney disease (HOT-KID): a parallel-group, open-label, multicentre, randomised, controlled trial.

Background: Optimal target blood pressure to reduce adverse cardiac remodelling in children with chronic kidney disease is uncertain. We hypothesised that lower blood pressure would reduce adverse cardiac remodelling.

Methods: HOT-KID, a parallel-group, open-label, multicentre, randomised, controlled trial, was done in 14 clinical centres across England and Scotland.

The Acute Impact of Endurance Exercise on Right Ventricular Structure and Function: A Systematic Review and Meta-analysis.

There have been many studies since the late 1980s investigating the effect of endurance exercise on the left ventricle. More recently, attention has shifted to the right heart, with suggestions that endurance exercise may have a detrimental effect on the right ventricle. This systematic review and meta-analysis summarizes and critiques 26 studies, including 649 athletes, examining the acute impact of endurance exercise on the right ventricle.

Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series.

In maple syrup urine disease (MSUD), leucine (Leu) accumulation, and its metabolites cause brain toxicity, and at diagnosis rapid plasma Leu reduction is essential. Valine (Val) and isoleucine (Iso) supplements are necessary to promote anabolism and enable prompt reduction of plasma Leu. Val/Iso supplements are unavailable in Iran, so an alternative source was necessary.

Role of Wrist Arthroscopy in Juvenile Inflammatory Arthritis.

 The wrist is the fourth most common joint to be involved in juvenile inflammatory arthritis (JIA), which is a common rheumatological condition affecting children. Wrist arthroscopy is well established in rheumatoid arthritis, but remains unexplored in JIA. The aim of this study is to investigate the role of wrist arthroscopy in JIA, with focus on those who are refractory to medical management.

Incidence of Gastrointestinal Bleeding After Transesophageal Echocardiography Use in Orthotopic Liver Transplantation.

The risk of upper gastrointestinal bleeding (UGIB) after transesophageal echocardiography (TEE) in patients with high grade esophageal varices (EV) that are undergoing Orthotopic Liver transplantation (OLT) is poorly understood. This was a retrospective single-centre cohort study in all patients that underwent OLT at Queen Elizabeth Hospital Birmingham between September 2016 and September 2018. The primary outcome was to determine the incidence of UGIB in patients that have undergone OLT with EV that received TEE.