Mental healthcare in paediatric epilepsy clinics: implementation by non-mental health professionals.

Objectives: Research has shown that children with epilepsy often experience mental health disorders but face barriers to effective care. One solution is to train healthcare professionals within paediatric epilepsy services to deliver psychological interventions. The aim of this paper was to examine aspects of treatment integrity of the 'Mental Health Interventions for Children with Epilepsy' (MICE) treatment, a modular cognitive behavioural therapy intervention for anxiety, depression and behavioural difficulties in childhood epilepsy.

Associations of fat and fat-free mass at birth and accretion from 0 to 5 years with cognitive function at later childhood: the Ethiopian infant anthropometry and body composition birth cohort.

Early childhood growth is associated with cognitive function. However, the independent associations of fat mass (FM) and fat-free mass (FFM) with cognitive function are not well understood. We investigated associations of FM and FFM at birth and 0-5 years accretion with cognitive function at 10 years.

: an underestimated pathogen in brain infection?

is an oral commensal organism belonging to the group (SAG). causes periodontitis as well as invasive, pyogenic infection of the central nervous system, pleural space or liver. Compared with other SAG organisms, has a higher mortality as well as a predilection for intracranial infection, suggesting it is likely to possess virulence factors that mediate specific interactions with the host resulting in bacteria reaching the brain.

Qualitative study of the feasibility and acceptability of implementation, and potential mechanisms of Learning Together for Mental Health, a whole-school intervention aiming to promote mental health and wellbeing in secondary schools.

Background: Despite high rates of adolescent mental-health problems, there are few effective whole-school interventions to address this. Whole-school interventions offer a feasible and sustainable means of promoting mental health. We previously evaluated the Learning Together (LT) intervention which was effective in preventing bullying (primary outcome), promoting mental well-being, psychological functioning, and reducing substance use (secondary outcomes).

Hypothalamic obesity: from basic mechanisms to clinical perspectives.

Despite the diverse nature of obesity, there is compelling genetic, clinical, and experimental evidence that endorses the important contribution of brain circuits to this condition. The hypothalamus contains major regulatory circuits for bodyweight homoeostasis, the deregulation of which can lead to obesity. Although functional perturbation of hypothalamic pathways could lie at the basis of common forms of obesity, the term hypothalamic obesity has been created to define those rare forms of severe obesity where a clear hypothalamic substrate can be identified, either of genetic or acquired origin.

Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.

Alpha-methylacyl-CoA-racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical features and age of onset from infancy to late adulthood. The purpose of this report is to define clinical variations and follow-up data in AMACR deficiency emphasizing treatment with a review of cases reported in the literature. Here, four patients, from two families, diagnosed with AMACR deficiency and showing phenotypic heterogeneity are presented.

Betibeglogene autotemcel gene therapy in patients with transfusion-dependent, severe genotype β-thalassaemia (HGB-212): a non-randomised, multicentre, single-arm, open-label, single-dose, phase 3 trial.

Background: Transfusion-dependent β-thalassaemia (TDT) is a severe disease, resulting in lifelong blood transfusions, iron overload, and associated complications. Betibeglogene autotemcel (beti-cel) gene therapy uses autologous haematopoietic stem and progenitor cells (HSPCs) transduced with BB305 lentiviral vector to enable transfusion independence.

Methods: HGB-212 was a non-randomised, multicentre, single-arm, open-label, phase 3 study of beti-cel in patients with TDT conducted at eight centres in France, Germany, Greece, Italy, the UK, and the USA.

Emergency hospital admissions for stress-related presentations among secondary school-aged minoritised young people in England.

Background: Minoritised young people face a double burden of discrimination through increased risk of stress and differential treatment access. However, acute care pathways for minoritised young people with urgent mental health needs are poorly understood.

Aims: To explore variation in stress-related presentations (SRPs) to acute hospitals across racial-ethnic groups in England.

Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England.

Introduction: The National Health Service (NHS) in England is the first to offer whole genome sequencing (WGS) as part of standard care. As a high-income country with a universal healthcare system, England contributes a valuable perspective to global developments in WGS.

Methods: We used an implementation science approach with mixed methods to characterise delivery of WGS for paediatric rare diseases: observations and field notes of consent appointments in clinical genetics and mainstream settings and follow-up qualitative semi-structured interviews with the clinical team.

Predicting post-COVID-19 condition in children and young people up to 24 months after a positive SARS-CoV-2 PCR-test: the CLoCk study.

Background: Predicting which children and young people (CYP) are at the highest risk of developing post-COVID-19 condition (PCC) could improve care pathways. We aim to develop and validate prediction models for persistent PCC up to 24 months post-infection in CYP.

Methods: CYP who were PCR-positive between September 2020 and March 2021, with follow-up data up to 24-months post-infection, were analysed.

Using heart rate data from wrist worn activity trackers to define thresholds for moderate to vigorous physical activity in children and young people with cystic fibrosis.

Background: Children and young people with cystic fibrosis (CYPwCF) are encouraged to do an average of 60 min of moderate-to-vigorous physical activity (MVPA) daily. However, there are no agreed heart rate (HR) thresholds for defining MVPA, so it is difficult to ascertain whether these targets are actually achieved. Wearable activity trackers enable continuous monitoring of fitness-related measures such as HR and could be used to measure duration and intensity of habitual MVPA.

Cultural barriers and facilitators of the parents for human papillomavirus (HPV) vaccination uptake by their daughters: A systematic review.

Objective: There is a pressing need for public health practitioners to understand cultural values influencing parents on the uptake of human papillomavirus (HPV) vaccination for their daughters, which is presenting a growing challenge to close the immunization gap worldwide. Parental decisions were predominantly shaped by cultural norms and values. This systematic review encompasses parental perspectives on the influence of cultural values on the uptake of HPV vaccination by their daughters.

Ketogenic diet registry for epilepsy: A cross-sectional feasibility study.

We aimed to develop a registry ('Keto-Reg') for individuals with epilepsy referred for ketogenic dietary therapy (KDT) and to test feasibility of its implementation. The purpose of the registry is to provide a platform for collaborative research to answer specific research questions regarding long-term clinical and safety outcomes and to identify the most suitable candidates for KDT. Registry data items were determined via an international Delphi survey of KDT healthcare professionals, and then entered into an electronic platform.

Clinical translation of tissue-engineered oesophageal grafts: are patients ready for us?

Purpose: We sought to engage with expert patient/carers to understand attitudes towards use of tissue engineering (TE) for long-gap oesophageal atresia (OA).

Methods: An in-person engagement event for 70 patients/parents was held by the OA patient group, TOFS. Attitudes towards TE were assessed before and after a talk on use of TE oesophagi in a pre-clinical OA model.

Autosomal recessive -related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of 34 individuals with biallelic variants in von Willebrand factor A domain-containing 1 (). This study further delineates the disease characteristics in a cohort of 20 individuals diagnosed through genome or exome sequencing, incorporating neurophysiological, laboratory and imaging data, along with data from previously reported cases across three different studies. Newly reported clinical features include hypermobility/hyperlaxity, axial weakness, dysmorphic signs, asymmetric presentation, dystonic features and, notably, upper motor neuron signs.

Pragmatic implementation of low-intensity psychological treatment for children and young people: the reality.

Background And Aims: Low-intensity psychological interventions are effective for children and young people (CYP) with mental health difficulties and can help bridge the demand-capacity gap. Despite increasing awareness, training and use of low-intensity psychological interventions, it is not yet understood what is being implemented in clinical practice in the UK and the associated evidence base.

Method: This paper presents two studies; first, a national survey (=102) of practitioners to identify low-intensity psychological interventions currently delivered in practice and second, an exploration of the availability and the strength of empirical support (characterised as 'gold', 'silver' and 'bronze') of low-intensity CBT interventions for CYP.

Understanding one health challenges in marginalized urban settings: A patient and public involvement (PPI) approach from the CHIP consortium activities across four global cities.

Background: Slum communities face health risks influenced by environmental, human, and animal health factors, particularly antimicrobial resistance (AMR). Tailored, community-driven solutions are needed to address these multifactorial health determinants. This study explores One Health challenges in urban slums using a Patient and Public Involvement (PPI) approach.