Dent disease: Clinical Practice Recommendations.

Dent disease is a rare X-linked tubulopathy that is characterized by low-molecular-weight (LMW) proteinuria associated with hypercalciuria, which may lead to nephrolithiasis, nephrocalcinosis, and kidney failure between the 3rd and the 5th decades of life in 30-80% of affected males. The disease is most often associated with various manifestations of proximal tubular dysfunction. Affected individuals may present nephrotic range proteinuria which may be misinterpreted and cause diagnostic delay.

: children's experiences of visual hallucinations in Charles Bonnet syndrome-a qualitative study.

Objective: Charles Bonnet syndrome (CBS) refers to the presence of visual hallucinations occurring secondary to visual impairment. The aim of this study was to understand the phenomenology of CBS in children and assess the emotional impact and support needs of patients and their families.

Design: Semistructured qualitative interview study.

'That's kind of under my work blanket'-redeployment experiences of children's hospital staff during the covid-19 pandemic: a qualitative interview study.

Background: During COVID-19 pandemic, a rapid readjustment to continued delivery of healthcare was required. Redeployment is an intentional process to mobilise human resources by reassigning a healthcare worker to a new role or new work location, to achieve sustainable delivery of patient care. We report redeployment experiences of staff from a specialist children's hospital during first and second waves of the United Kingdom COVID-19 pandemic.

COA5 has an essential role in the early stage of mitochondrial complex IV assembly.

Pathogenic variants in cytochrome oxidase assembly factor 5 (COA5), a proposed complex IV (CIV) assembly factor, have been shown to cause clinical mitochondrial disease with two siblings affected by neonatal hypertrophic cardiomyopathy manifesting a rare, homozygous missense variant (NM_001008215.3: c.157G>C, p.

Neuroimaging of postoperative pediatric cerebellar mutism syndrome: a systematic review.

Background: Postoperative pediatric cerebellar mutism syndrome (ppCMS) poses serious morbidity after posterior fossa tumor surgery. Neuroimaging studies aim to understand its pathophysiology, yet these vary in methodology and outcome measures. Therefore, we systematically reviewed the current literature to evaluate the evidence for differences in neuroimaging features between children with and without ppCMS.

Endocrine dysfunction in long-term survivors of pediatric head and neck rhabdomyosarcoma.

Objective: Survivors of pediatric head and neck rhabdomyosarcoma (HNRMS) are at risk of developing endocrinopathies following local treatment, resulting from radiation damage to the pituitary gland, hypothalamus, or thyroid gland, often at a young age. Our aim was to determine the prevalence of endocrine dysfunction in long-term HNRMS survivors and compare the prevalence of anterior pituitary insufficiency (API) among different local treatment strategies: external beam radiation with photons, external beam radiation with protons, microscopically radical surgery combined with external irradiation, and macroscopic radical surgery combined with brachytherapy.

Design And Methods: Head and neck rhabdomyosarcoma survivors treated between 1993 and 2017, with ≥2 years of follow-up, without recurrent disease or secondary malignancy were eligible for this study.

Developing an adaptive paediatric intensive care unit platform trial with key stakeholders: a qualitative study.

Objectives: Platform trials were used successfully in adult populations during the COVID-19 pandemic. By testing multiple treatments within a single trial, platform trials can help identify the most effective treatments (and any interactions between treatments) for patients more quickly and with less burden for patients and their families. The aim of this qualitative research was to inform the design of the first adaptive platform trial for paediatric intensive care in the UK with young people, parents/carers and paediatric intensive care unit (PICU) staff.

Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish.

Reactive oxygen species (ROS) within the retina play a key role in maintaining function and cell survival. However, excessive ROS can lead to oxidative stress, inducing dysregulation of metabolic and inflammatory pathways. The zebrafish models choroideremia (CHM), an X-linked chorioretinal dystrophy, which predominantly affects the photoreceptors, retinal pigment epithelium (RPE), and choroid.

Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene.

Ullrich congenital muscular dystrophy (UCMD) represents the most severe subtype of collagen VI-related dystrophies (COL6-RDs), a spectrum of rare extracellular matrix disorders affecting skeletal muscle and connective tissue. Here, we generated an induced pluripotent stem cell (iPSC) line (CRICKi021-A) from a UCMD patient with de novo dominant-negative mutation in COL6A1 gene by reprogramming dermal fibroblasts using a non-integrating mRNA-based protocol. The resulting human iPSCs displayed normal morphology, expressed pluripotency-associated markers and differentiated into the three germ layers.

A scoping review of the electronic collection and capture of patient reported outcome measures for children and young people in the hospital setting.

Patient reported outcome measures (PROMs) capture patients' views of their health status and the use of PROMs as part of standard care of children and young people has the potential to improve communication between patients/carers and clinicians and the quality of care. Electronic systems for the collection of or access to PROMs and integrating PROMs into electronic health records facilitates their implementation in routine care and could help maximise their value. Yet little is known about the technical aspects of implementation including the electronic systems available for collection and capture and how this may influence the value of PROMs in routine care which this scoping review aims to explore.

Early investigation of sensorineural hearing loss enables diagnosis of rare metabolic diseases, such as mucopolysaccharidosis type III.

A toddler presented to audiovestibular medicine with mild bilateral, sensorineural hearing loss identified via the Newborn Hearing Screening Programme. This report focuses on the early clinical assessment and aetiological investigation which prompted testing for metabolic disease and highlights the parents' perspective. Early investigation led to a relatively early diagnosis of mucopolysaccharidosis (MPS) type IIIA: Sanfilippo disease which enabled the family to access a novel treatment option which otherwise would not have been possible.

DIVERGENT PRESENTATION OF GRIN2B NEURODEVELOPMENTAL DISORDER IN MONOZYGOTIC TWINS: CASE REPORT WITH UNIQUE IMAGING PHENOTYPES.

We describe a set of monozygotic twins with GRIN2B-related neurodevelopmental disorder (GRIN2B-ND) who exhibited distinct clinical and imaging characteristics due to a de novo heterozygous pathogenic variant in the GRIN2B gene (c.2453T>C, p.Met818Thr).

Safety, tolerability, and efficacy of an in-class combination therapy switch from bosentan plus sildenafil to ambrisentan plus tadalafil in children with pulmonary arterial hypertension.

The aim of this single-centre retrospective observational study was to evaluate the safety, tolerability, and efficacy of an in-class combination therapy switch from bosentan plus sildenafil to ambrisentan plus tadalafil in children with pulmonary arterial hypertension. Children aged over 5 years who were established on sildenafil plus bosentan were offered to undergo a therapy switch from May 2014 to May 2021 and, if remaining in the service, followed up to May 2024. Children with Eisenmenger syndrome, open intra or extra-cardiac shunt, or with pulmonary hypertension-associated lung disease were excluded.

Technical Aspects of a National Service for Paediatric Pelvic Brachytherapy.

Aims: Brachytherapy is advantageous for localised rhabdomyosarcomas in children compared with external beam radiotherapy, sparing close organs at risk with highly conformal dosimetry. A methodology for planning and delivering fractionated high-dose-rate paediatric pelvic brachytherapy is detailed, and the dosimetric parameters are presented. This provides a practical template for radiotherapy departments with a similar patient cohort to implement this treatment technique.

Improving outcomes for very preterm babies in England: does place of birth matter? Findings from OPTI-PREM, a national cohort study.

Objective: Babies born between 27 and 31 weeks of gestation contribute substantially towards infant mortality and morbidity. In England, their care is delivered in maternity services colocated with highly specialised neonatal intensive care units (NICU) or less specialised local neonatal units (LNU). We investigated whether birth setting offered survival and/or morbidity advantages to inform National Health Service delivery.

Slide Tracheoplasty in Long Segment Tracheobronchial Stenosis.

Background: Long segmental congenital tracheal and tracheobronchial stenosis are a rare congenital airway anomaly with variable arborizations. This study aims to analyze presentations and outcomes of slide- tracheoplasty in long segmental congenital tracheal and tracheobronchial stenosis with variable arborizations METHODS: Retrospective analysis of all patients underwent slide tracheoplasty between March 1995 to Feb 2023 for long segmental congenital tracheal and tracheobronchial stenosis. Preoperative airway morphology was divided into anatomic types based on the Great Ormond Street Children Hospital Morphological Classification.

Allogeneic haematopoietic stem-cell transplantation for children with refractory systemic juvenile idiopathic arthritis and associated lung disease: outcomes from an international, retrospective cohort study.

Background: Systemic juvenile idiopathic arthritis-related lung disease (sJIA-LD) is a severe complication in patients with treatment-refractory systemic juvenile idiopathic arthritis (sJIA). The objective of this study was to evaluate the effect of allogeneic haematopoietic stem-cell transplantation (HSCT) in a cohort of children with sJIA-LD.

Methods: This international, retrospective cohort study was performed in nine hospitals across the USA and Europe in children with sJIA-LD who had received allogeneic HSCT.

Building global collaborative research networks in paediatric critical care: a roadmap.

Paediatric critical care units are designed for children at a vulnerable stage of development, yet the evidence base for practice and policy in paediatric critical care remains scarce. In this Health Policy, we present a roadmap providing strategic guidance for international paediatric critical care trials. We convened a multidisciplinary group of 32 paediatric critical care experts from six continents representing paediatric critical care research networks and groups.

Increasing number of clinically severe of Mycoplasma pneumoniae infections in children after the COVID-19 pandemic: a single centre case series.

In 2024, there have been increases in laboratory confirmed infections of Mycoplasma Pneumoniae infection worldwide. This case series highlights increasing frequency of Mycoplasma pneumoniae positive PCR specimens and an increased number of hospital admissions with Mycoplasma pneumoniae clinical syndromes. Within this case series, we observed, a change in the epidemiology and clinical burden of childhood Mycoplasma pneumonia disease in the post COVID-19 era.