Involving People With Lived Experience in Electronic Health Record Database Studies Reflections and Learning From the CHOOSE Study.

Background: Patient and public involvement and engagement (PPIE) is integral to health research. Reporting of PPIE methods and impact is becoming increasingly common in health research. However, reporting on PPIE in studies using large, routinely collected electronic health record data sets is less common.

Rhabdomyosarcoma in children and young adults.

Rhabdomyosarcoma (RMS) is the most common soft tissue malignancy in childhood, accounting for 3% of all pediatric malignancies and 50% of all pediatric soft tissue sarcomas. In adolescents and young adults (AYA) however, RMS comprises only 6.5% of all soft tissue sarcomas.

Repair of the Bulbospongiosus Muscle to Suspend the Penis to the Pubic Bones in Proximal Hypospadias.

Background: In proximal hypospadias, ventral curvature is invariable and most have penoscrotal transposition, and we observed that the base of the penis (BOP) was located on the inferior aspect of the pubic bones in those, in contrast to the location of the BOP at the anterior end in normal penises. We also observed an unfused bulbospongiosus muscle (BSM) at surgery in those. The aim was to assess the impact of repairing the unfused BSM or transection and straightening of the urethral plate at the first operation on the low BOP.

Accuracy of frameless robot-assisted stereoelectroencephalography depth electrode implantation using the neurolocate registration system in paediatric patients.

Background: We assessed the accuracy and performed a directional analysis of robot-assisted implantation of stereoelectroencephalography (SEEG) depth electrodes in children using the frameless neurolocate 3D registration module.

Methods: Thirteen children with epilepsy undergoing stereotactic robot-assisted insertion of SEEG electrodes were included. Six children were operated on with standard frame-based registration while 7 with the use of the frameless neurolocate registration module.

Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.

Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commonest hereditary kidney disease characterized by persistent haematuria progressing to the need of kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance, variable expressivity, and disease penetrance of individual variants as well as imperfect prognostic and progression factors and scarce and limited clinical trials, especially in children. As a joint initiative of the European Rare Kidney disease reference Network (ERKNet), European Renal Association (ERA Genes&Kidney) and European Society for Paediatric Nephrology (ESPN) Working Group Hereditary Kidney Disorders, a team of experts including adult and paediatric nephrologists, kidney geneticists, audiologists, ophthalmologists and a kidney pathologist were selected to perform a systematic literature review on 21 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions.

Service evaluation of R90 bleeding and platelet disorders gene panel in thrombocytopenia cases.

This study examines the R90 bleeding and platelet disorders gene panel's utility in thrombocytopenia. The study analysed the correlations between the clinical features of patients with thrombocytopenia and genetic outcomes. The diagnostic yield was 46.

Opportunities for nurses aspiring to or undertaking clinical academic development globally: protocol for a scoping review.

Introduction: Nurse researchers often lack awareness of how to start a clinical academic research career and often lack clear entry routes. This scoping review aims to identify the range and nature of clinical academic opportunities available for nurses. This will also identify the knowledge gaps and provide the basis for future research.

Paediatric meningiomas: a multi-centre case series of 27 patients.

Purpose: This study presents a series of paediatric meningiomas and discusses aetiology, risk factors and outcomes with comparison to current literature.

Methods: This is a retrospective review of surgically treated paediatric meningiomas from three UK centres: the University Hospital of Wales, Alder Hey Children's Hospital and Royal Manchester Children's Hospital. Twenty-seven patients aged 16 and under at the time of their first procedure were identified over a 15-year period (1 January 2007 and 1 March 2023).

Impact of intraoperative MRI on pediatric epilepsy surgery for focal cortical dysplasia.

Background: Complete resection is essential for achieving seizure freedom in children with drug-resistant epilepsy due to focal cortical dysplasia (FCD). However, identifying altered structures intraoperatively can be challenging, potentially leading to reoperations. This study assessed the impact of intraoperative MRI (iMRI).

A Genetic Bridge Between Medicine and Neurodiversity for Autism.

Autism represents a large spectrum of diverse individuals with varying underlying genetic architectures and needs. For some individuals, a single de novo or ultrarare genetic variant has a large effect on the intensity of specific dimensions of the phenotype, while, for others, a combination of thousands of variants commonly found in the general population are involved. The variants with large impact are found in up to 30% of autistic individuals presenting with intellectual disability, significant speech delay, motor delay, and/or seizures.

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.

Emerging round cell sarcomas in children.

Several distinctive round cell sarcomas have emerged by leveraging new testing modalities to include immunohistochemistry, next-generation sequencing, methylation array, and others. While Ewing sarcoma has led the way as the prototypic round cell sarcoma, more recently described round cell sarcomas of bone and soft tissue are now recognized which have unique clinical, morphologic, immunophenotypic, and genetic signatures. While each of these entities is less common than Ewing sarcoma, it is important to distinguish these tumors for correct diagnosis, prognostication, and potential treatment management.

Graft-versus-host disease after anti-CD19 chimeric antigen receptor T-cell therapy following allogeneic hematopoietic cell transplantation: a transplant complications and paediatric diseases working parties joint EBMT study.

In patients diagnosed with B-acute lymphoblastic leukemia (B-ALL) or B-non-Hodgkin's lymphoma (B-NHL) relapsing after allogeneic stem cell transplantation (allo-HCT), it is a standard practice to perform anti-CD19 chimeric antigen receptor (CAR) T-cell therapy. When collected from the patient after allo-HCT, the produced CAR-T cells are likely to be donor T-cell-derived, creating unknown safety risks due to their potential allo-reactivity. We therefore performed an EBMT registry-based study on the incidence of graft-versus-host disease (GvHD) in this setting.

Pre-vascularisation of the acellular bladder matrix using the omentum in a porcine model prior for bladder reconstruction-a step towards clinical application?

Aim: Research studies with porcine acellular bladder matrix (PABM) showed integration of only small sized stamps in recipient bladders, however for clinical use in bladder augmentation significantly larger patches are needed. We hypothesised pre-vascularisation with omentum may be a step towards clinical translation.

Method: Eight domestic pigs were operated three times 8-10 weeks apart: 1-Implantation; PABM with recorded dimensions were sutured around a tissue expanding device, wrapped in omentum and sutured to the anterior abdominal wall.

Parameningeal Rhabdomyosarcoma: Results of the European Pediatric Soft Tissue Sarcoma Study Group RMS 2005 Study.

Background: Parameningeal (PM) site is an unfavorable characteristic in rhabdomyosarcoma (RMS). We described the treatment and outcome for patients with PM RMS and investigated the prognostic value of risk factors. We scored PM site by originating site and by highest risk extension.