Identifying barriers and opportunities to facilitate the uptake of whole genome sequencing in paediatric haematology and oncology practice.

Background: The clinical utility of whole genome sequencing (WGS) in paediatric cancer has been demonstrated in recent years. WGS has been routinely available in the National Health Service (NHS) England for all children with cancer in England since 2021, but its uptake has been variable geographically. To explore the underlying barriers to routine use of WGS in this population across England and more widely in the United Kingdom (UK) and the Republic of Ireland (ROI), a one-day workshop was held in Cambridge, United Kingdom in October 2022.

Early Intervention in Patients With Asymptomatic Severe Aortic Stenosis and Myocardial Fibrosis: The EVOLVED Randomized Clinical Trial.

Importance: Development of myocardial fibrosis in patients with aortic stenosis precedes left ventricular decompensation and is associated with an adverse long-term prognosis.

Objective: To investigate whether early valve intervention reduced the incidence of all-cause death or unplanned aortic stenosis-related hospitalization in asymptomatic patients with severe aortic stenosis and myocardial fibrosis.

Design, Setting, And Participants: This prospective, randomized, open-label, masked end point trial was conducted between August 2017 and October 2022 at 24 cardiac centers across the UK and Australia.

Reliability of the New Index of Global Food Quality and its relationship with sociodemographic variables and physical activity levels in the Chilean population.

Introduction: surveys play a crucial role in evaluating the quality of food in populations, especially in healthcare settings, helping identify important characteristics of food descriptions and improving efficiency in the collection and management of data in dietary surveys. Objective: the primary aim of this study was to analyze the internal consistency of the New Index of Global Food Quality (NIGFQ) instrument and assess its applicability to sociodemographic variables and levels of physical activity (IPAQ-S) in a specific region of Chile. Methods: a descriptive, comparative, and correlational study that utilizes the online platform of Google Forms for data collection using the New Index of Global Food Quality (NIGFQ) and IPAQ-S instruments, in addition to considering sociodemographic variables, in a sample of 1,331 participants from the metropolitan region of Chile.

Ethnobotanical survey of medicinal and ritual plants utilized by the indigenous communities of Benguet province, Philippines.

Background: The Sto. Niño site in Benguet province, Philippines was once a mining area that has now been transformed into an agricultural land. In this area, there has been significant integration of the three indigenous people (IPs) Ibaloi, Kankanaeys and Kalanguyas with the Ilocano community.

The translatability of communication interventions in paediatric autism: A scoping review.

Purpose: Translation of research is requisite for speech-language pathologists; however, barriers have been reported. This review aimed to identify the extant literature published on communication for autistic children, and examine the replicability and translatability of communication interventions for speech-language pathologists providing services to children with autism.

Method: A scoping review was conducted using a six-stage protocol.

Approach to the paediatric patient with suspected pheochromocytoma or paraganglioma versus neuroblastoma.

Catecholamine producing tumours of childhood include neuroblastic tumours, phaeochromocytoma and paraganglioma (PPGL). PPGL and neuroblastic tumours can arise in similar anatomical locations and clinical presentations can overlap resulting in diagnostic challenges. Distinguishing between these tumour types is critical as management and long-term surveillance strategies differ depending on the diagnosis.

Developing a Paired Whole Genome Sequencing Service for Children With Cancer.

Background: The uniqueness of paired (tumor and germline) whole genome sequencing (PWGS) in cancer diagnosis and management lies in not just its ability to uncover oncogenic drivers and potential treatment targets but also on the identification of underlying cancer predisposition syndromes, which has significant implications for the patient and their family.

Aims: This is a descriptive article highlighting the processes taken by our team to incorporate PWGS into routine National Health Service (NHS) clinical care for children with cancer. The main aim of this article is to share our experience with other centers that may wish to set up similar services and set the stage for future quantitative/qualitative research.

Cardiac arrest in adult cardiology patients receiving anaesthetic care: analysis from the 7th National Audit Project (NAP7) of the Royal College of Anaesthetists.

Background: The 7th National Audit Project of the Royal College of Anaesthetists studied peri-operative cardiac arrest because of existing knowledge gaps in this important topic. This applies in particular to cardiology patients receiving anaesthetic care, because numbers, types and complexity of minimally invasive interventional procedures requiring planned and unplanned anaesthesia in the cardiac intervention suite is increasing.

Methods: We analysed collected data to determine the epidemiology, clinical features, management and outcomes of peri-operative cardiac arrest in adult patients receiving anaesthetic care for cardiology procedures.

Reducing asthma attacks in disadvantaged school children with asthma: study protocol for a type 2 hybrid implementation-effectiveness trial (Better Asthma Control for Kids, BACK).

Background: Asthma is a leading cause of children's hospitalizations, emergency department visits, and missed school days. Our school-based asthma intervention has reduced asthma exacerbations for children experiencing health disparities in the Denver Metropolitan Area, due partly to addressing care coordination for asthma and social determinants of health (SDOH), such as access to healthcare and medications. Limited dissemination of school-based asthma programs has occurred in other metropolitan and rural areas of Colorado.

Collection of serum albumin aggregate nanoparticles from human plasma by dielectrophoresis.

Dielectrophoresis (DEP) is a fast and reliable nanoparticle recovery method that utilizes nonuniform electric fields to manipulate particles based on their material composition and size, enabling recovery of biologically-derived nanoparticles from plasma for diagnostic applications. When applying DEP to undiluted human plasma, collection of endogenous albumin proteins was observed at electric field gradients much lower than predicted by theory to collect molecular proteins. To understand this collection, nanoparticle tracking analysis of bovine serum albumin (BSA) dissolved in 0.

Introduction and impact of routine whole genome sequencing in the diagnosis and management of sarcoma.

Background: Sarcomas are diverse neoplasms with highly variable histological appearances in which diagnosis is often challenging and management options for metastatic/unresectable disease limited. Many sarcomas have distinctive molecular alterations, but the range of alterations is large, variable in type and rapidly increasing, meaning that testing by limited panels is unable to capture the broad spectrum of clinically pertinent genomic drivers required. Paired whole genome sequencing (WGS) in contrast allows comprehensive assessment of small variants, copy number and structural variants along with mutational signature analysis and germline testing.

Anaesthesia associates' clinical activity, case mix, supervision and involvement in peri-operative cardiac arrest: analysis from the 7th National Audit Project.

Background: We analysed the clinical practice of anaesthesia associates in the UK, as reported to the 7th National Audit Project of the Royal College of Anaesthetists, and compared these with medically qualified anaesthetists.

Methods: We included data from our baseline survey, activity survey and case registry as with other reports from the project.

Results: Among 197 departments of anaesthesia, 52 (26%) employed anaesthesia associates.

Aberrant early hematopoietic progenitor formation marks the onset of hematopoietic defects in Shwachman-Diamond syndrome.

Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure disorder that often presents at infancy. Progress has been made in revealing causal mutated genes (SBDS and others), ribosome defects, and hematopoietic aberrations in SDS. However, the mechanism underlying the hematopoietic failure remained unknown, and treatment options are limited.

Effects of Repetitive Mild Traumatic Brain Injury on Corticotropin-Releasing Factor Modulation of Lateral Habenula Excitability and Motivated Behavior.

Mild traumatic brain injury (mTBI) is a significant health burden due to mTBI-related chronic debilitating cognitive and psychiatric morbidities. Recent evidence from our laboratory suggests a possible dysregulation within reward/motivational circuit function at the level of a subcortical structure, the lateral habenula (LHb), where we demonstrated a causal role for hyperactive LHb in mTBI-induced motivational deficits in self-care grooming behavior in young adult male mice when exposed to mTBI during late adolescence (at ∼8 weeks old). In this study, we extended this observation by further characterizing neurobehavioral effects of this repetitive closed head injury model of mTBI in both young adult male and female mice on LHb excitability, corticotropin releasing factor (CRF) modulation of LHb activity, and behavioral responses of motivation to self-care behavior and approach versus avoidance behavior in the presence of a social- or threat-related stimulus.

Rehabilitation of brachial plexus injury in contact sport: Where are the data that underpin clinical management? A scoping review.

Background: Although a common injury there is a lack of published primary data to inform clinical management of sports related brachial plexus injuries.

Methods: A systematic search was completed in Medline, CINAHL, PubMed, SPORTDiscus and Web of Science databases and Google Scholar from inception to August 2023 according to the PRISMA-ScR guidelines. Methodological quality assessment of included articles was with the Joanna Briggs Institute tool.