Artificial intelligence (AI) for paediatric fracture detection: a multireader multicase (MRMC) study protocol.

Introduction: Paediatric fractures are common but can be easily missed on radiography leading to potentially serious implications including long-term pain, disability and missed opportunities for safeguarding in cases of inflicted injury. Artificial intelligence (AI) tools to assist fracture detection in adult patients exist, although their efficacy in children is less well known. This study aims to evaluate whether a commercially available AI tool (certified for paediatric use) improves healthcare professionals (HCPs) detection of fractures, and how this may impact patient care in a retrospective simulated study design.

The impact of fibre and prebiotic interventions on outcomes in cancer and haematopoietic stem cell transplantation: A systematic review.

Background & Aims: Cancer therapy is associated with a range of toxicities that severely impact patient well-being and a range of clinical outcomes. Dietary fibre/prebiotics characteristically improve the gastrointestinal microenvironment, which consequently elicits beneficial downstream effects that could be relevant to the prevention and management of treatment-related toxicities. Despite the compelling theoretical scientific rationale there has been limited effort to synthesise the available evidence to conclude such scientific underpinning to the clinical use of fibre/prebiotics in cancer patients.

How dialysis frequency and duration impact uremic toxin and fluid removal: a pediatric perspective.

Three-weekly 4-h hemodialysis/hemodiafiltration (HD/HDF) per week has become the "standard HD/HDF" regimen in children across the globe, although increasingly criticized, since crucial determinants such as residual kidney function and patient preferences are not considered. As a consequence, several children fail to achieve adequate dialysis while on a "standard HD/HDF." In these circumstances, an extended dialysis prescription such as short daily (2-3 h/session, 5-7 days a week) or nocturnal HD/HDF (6-9 h/session, 3-5 days a week), either at home or in a dialysis center, may be considered.

The impact of patient ethnicity on haematopoietic cell transplantation outcome: a retrospective cohort study on the UK experience.

Background: Patient ethnicity has been correlated with different outcomes after haematopoietic cell transplantation (HCT), with patients from minority ethnic backgrounds reported to have worse outcomes compared with White patients. To date, studies have been predominantly done in the USA, where health-care models are different to many European countries, including the UK. We aimed to evaluate the impact of patient-reported ethnicity on autologous and allogeneic HCT outcomes in the UK.

Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trial.

Aim: To extend the findings of a previous clinical trial suggesting combined abacavir (ABC), lamivudine (3TC), and zidovudine (AZT) reduces type I interferon (IFN) signalling in Aicardi-Goutières syndrome (AGS).

Method: This was an open label, non-placebo-controlled phase II clinical trial (NCT04731103) in patients less than 16 years with any of five AGS genotypes. The effect of ABC or 3TC individually, or of combined ABC + 3TC + AZT, on IFN-stimulated gene (ISG) expression (primary outcome) and IFN-alpha protein (secondary outcome) in blood was assessed.

Bi-modal confirmation of liposome delivery to the brain after focused ultrasound-induced blood-brain barrier opening.

Focused ultrasound-mediated opening of the blood-brain barrier offers a great opportunity to deliver therapeutics into hard-to-treat brain tumors such as glioblastoma multiforme or diffuse midline glioma. However, the potential of the technique to offer a time window for efficient nanomedicine delivery has not been thoroughly studied. Non-invasive and targeted delivery of large drug-loaded nanocarriers, such as liposomes, could offer a safe and scalable method of personalized therapy for the treatment of brain pathologies.

The Snails: A Simple Technique for Reduction of Frontal Bossing in Children With Scaphocephaly.

Objective: Scaphocephaly represents the most frequent single-suture craniosynostosis, with a male prevalence. In many cases, prominent frontal bossing (sphenocephaly) is the major aesthetic concern, typically in school-aged children. This aspect is also usually found in patients with late presentation (after 1 year of age).

Developing and testing a toolkit of interventions to improve adherence to non-invasive ventilation in children: the SPIRITUS study protocol.

Introduction: Non-invasive ventilation (NIV) is a known effective and safe treatment for children and young people with sleep disordered breathing (SDB). Adherence can be challenging and poor adherence risks undertreatment of SDB. While the risk factors for non-adherence have been widely reported, very few interventions have been tested in any capacity to address barriers to adherence.

Routine use of patient-reported experience and outcome measures for children and young people: a scoping review.

Background: Patient-reported outcome measures (PROMs) measure people's views of their health status whereas patient-reported experience measures (PREMs) are questionnaires measuring perceptions of their experience whilst receiving healthcare. PROMs/PREMs have the potential to enable children and young people (CYP) to be involved in decisions about their care and improve the quality of their care but it is not clear how often PROMs/PREMs are incorporated as part of standard care of CYP in the hospital setting. The aims of this scoping review were to understand the extent of the literature and map available evidence on the use, benefits, barriers and facilitators of PROMs/PREMs as part of standard care and treatment of CYP in hospitals.

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data of 149 patients with GS2 including 8 new patients.We identified three founder mutations which show diverse phenotypic profiles (RAB27A c.

Cone beam CT for the assessment of bone microstructure to predict head shape changes after spring-assisted craniosynostosis surgery.

Head shape changes following spring-cranioplasty for craniosynostosis (CS) can be difficult to predict. While previous research has indicated a connection between surgical outcomes and calvarial bone microstructure ex-vivo, there exists a demand for identifying imaging biomarkers that can be translated into clinical settings and assist in predicting these outcomes. In this study, ten parietal (8 males, age 157 ± 26 days) and two occipital samples (males, age 1066 and 1162 days) were collected from CS patients who underwent spring cranioplasty procedures.

ILAE neonatal seizure framework to aide in determining etiology.

Objective: To employ the neonatal seizure framework developed by the International League Against Epilepsy (ILAE) Neonatal Task force to assess its usefulness in determining the etiology of neonatal seizures.

Methods: The members of the ILAE Neonatal Task Force evaluated 157 seizures from 146 neonates to determine internal validity and associations between semiology and a specific etiology.

Results: Provoked neonatal electrographic and electroclinical seizures were due to multiple etiologies.

Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q Biosynthesis Disorders.

Background And Objectives: Disorders of coenzyme Q (CoQ) biosynthesis comprise a group of 11 clinically and genetically heterogeneous rare primary mitochondrial diseases. We sought to delineate clinical, biochemical, and neuroimaging features of these disorders, together with outcomes after oral CoQ supplementation and the utility of peripheral blood mononuclear cell (PBMNC) CoQ levels in monitoring therapy.

Methods: This was a retrospective cohort study, registered as an audit at a specialist pediatric hospital (Registration Number: 3318) of 14 patients with genetically confirmed CoQ biosynthesis deficiency, including 13 previously unreported cases.

A Systematic Review and Meta-Analysis of Conditioned Pain Modulation in Children and Young People with Chronic Pain.

Background/objectives: Conditioned pain modulation (CPM) is a psychophysical experimental measure of the endogenous pain inhibitory pathway in humans, wherein one pain stimulus (the conditioning stimulus) is used to inhibit an individual's perception of a second painful (test) stimulus. Research provides evidence of impaired endogenous inhibitory pain responses in adults with chronic pain. CPM is now increasingly applied in paediatric research and clinical practice.

What does a consent conversation for whole genome sequencing look like in the NHS Genomic Medicine Service? An observational study.

Patient choice consent for whole genome sequencing (WGS) through the Genomic Medicine Service in England covers consent to diagnostic testing and an invitation to the National Genomic Research Library (NGRL). Little is known about what consent conversations for WGS look like in practice. We audio-recorded and analysed the content and structure of consent appointments (n = 26) between healthcare professionals (HCPs) and parents of children with rare disease across seven NHS Trusts.

Cost-effectiveness of high flow nasal cannula therapy versus continuous positive airway pressure for non-invasive respiratory support in paediatric critical care.

Background: High flow nasal cannula therapy (HFNC) and continuous positive airway pressure (CPAP) are two widely used modes of non-invasive respiratory support in paediatric critical care units. The FIRST-ABC randomised controlled trials (RCTs) evaluated the clinical and cost-effectiveness of HFNC compared with CPAP in two distinct critical care populations: acutely ill children ('step-up' RCT) and extubated children ('step-down' RCT). Clinical effectiveness findings (time to liberation from all forms of respiratory support) showed that HFNC was non-inferior to CPAP in the step-up RCT, but failed to meet non-inferiority criteria in the step-down RCT.

Parental Somatic Mosaicism Detected During Prenatal Diagnosis.

Objective: Accurate recurrence risks are essential for genomic counselling and parental reproductive choices. Historically, Sanger sequencing was used to test parental samples, which has a limited sensitivity of ∼ 10% for detecting somatic mosaicism. Next generation sequencing (NGS) methods, utilised for non-invasive prenatal diagnosis (NIPD) and trio prenatal exome sequencing in our laboratory, have greater sensitivity.

Air-Bone Gap in Meniere's Disease: A Case Series and Literature Review.

Background/objectives: An air-bone gap (ABG) on audiometry is usually secondary to a conductive hearing loss. However, persistent and repeatable ABGs on audiometry in the absence of external or middle ear pathology is thought to arise from inner ear disorders including Meniere's Disease (MD). In this paper, we aim to showcase this interesting finding occurring in MD with an associated literature review.

Treatment-related survival patterns in diffuse intrinsic pontine glioma using a historical cohort: A report from the European Society for Pediatric Oncology DIPG/DMG Registry.

Background: Our aim is to investigate the association of treatment with survival in patients with diffuse intrinsic pontine glioma (DIPG) by examining 6 historical treatment paths.

Methods: We retrospectively analyzed data from 409 patients with radiologically centrally reviewed DIPG, sourced from the German Society of Pediatric Oncology and Hematology HIT-HGG trial database and the SIOPE-DIPG/DMG Registry. Survival outcomes were estimated using the Kaplan-Meier method, and univariable and multivariable Cox proportional hazard models were estimated to study treatment effects.

Sexually transmitted infections in sexually abused children: an audit project to implement PCR tests in a child advocacy center in Türkiye.

Background: Sexual abuse in children can sometimes result in sexually transmitted infections (STIs), which can serve as crucial forensic evidence. Although PCR methods are now accepted as the gold standard for STI screening, they have not yet widely replaced traditional culture methods in Türkiye. This study aims to assess the necessity of implementing PCR-based STI testing at Child Advocacy Centers in Türkiye, where such testing is not routinely available.