Relationship between growth and ambulation loss in Duchenne muscular dystrophy boys on steroids.

Background And Purpose: Treatment with glucocorticoids (GCs) is part of the standard of care in Duchenne muscular dystrophy, but excess weight gain and height stunting are common side-effects. It is still unclear how these growth-related side-effects affect motor function.

Methods: This retrospective cohort study utilized 2228 observations from 648 participants in the UK NorthStar database who had growth and ambulation data recorded between 2006 and 2020.

The relationship of early expressed milk quantity and later full breastmilk feeding after very preterm birth: A cohort study.

When infants cannot directly breastfeed after birth, mothers are advised to initiate lactation through mechanical expression. Families are recommended to target an expression volume of at least 500-750 mL by Day 14 after birth, as this is considered a 'critical window' to establish milk supply. This is challenging for many mothers after a very preterm birth.

Developmental and epileptic encephalopathies.

Developmental and epileptic encephalopathies, the most severe group of epilepsies, are characterized by seizures and frequent epileptiform activity associated with developmental slowing or regression. Onset typically occurs in infancy or childhood and includes many well-defined epilepsy syndromes. Patients have wide-ranging comorbidities including intellectual disability, psychiatric features, such as autism spectrum disorder and behavioural problems, movement and musculoskeletal disorders, gastrointestinal and sleep problems, together with an increased mortality rate.

Associations of bioelectrical impedance and anthropometric variables among populations and within the full spectrum of malnutrition.

Objectives: The aim of this study was to evaluate body composition variability assessed by bioimpedance in relation to nutritional status assessed by anthropometry in children and adolescents living in countries characterized by contrasting nutritional conditions.

Methods: The sample was comprised of 8614 children (4245 males; 4369 females), aged 3 to 19 years, from Nepal (477 children), Uganda (488 children and adolescents), UK (297 children and adolescents) and US (7352 children and adolescents). Height-for-age (HAZ) and body mass index-for-age (BAZ) z-scores were calculated according to WHO growth references.

Care-experienced young people's views and experiences of accessing general practice and dental services and attending health reviews in England: a qualitative study.

Background: Children in care and care leavers have worse health outcomes than their peers without care experience. This study addresses an evidence gap in exploring care-experienced young people's views and experiences of accessing general practice and dental services and attending health reviews in England.

Methods: We conducted a qualitative study using podcasting as a creative medium.

Optic Nerve Head Morphological Variation in Craniosynostosis: A Cohort Study.

Objective: To evaluate optic nerve head (ONH) morphology in children with craniosynostosis versus healthy controls.

Design: Single-center, prospective cohort study.

Methods: Handheld optical coherence tomography (OCT) was performed in 110 eyes of 58 children (aged 0-13 years) with craniosynostosis.

Genes Involved in Susceptibility to Obesity and Emotional Eating Behavior in a Romanian Population.

Obesity, a significant public health concern with high prevalence in both adults and children, is a complex disorder arising from the interaction of multiple genes and environmental factors. Advances in genome-wide association studies (GWAS) and sequencing technologies have identified numerous polygenic causes of obesity, particularly genes involved in hunger, satiety signals, adipocyte differentiation, and energy expenditure. This study investigates the relationship between six obesity-related genes () and their impact on BMI, WC, HC, WHR, and emotional eating behavior in 220 Romanian adults.

Long COVID in Children and Adolescents: A Critical Review.

(1) Background: Data on persisting symptoms after SARS-CoV-2 infection in children and adolescents are conflicting. Due to the absence of a clear pathophysiological correlate and a definitive diagnostic test, the diagnosis of Long COVID currently rests on consensus definitions only. This review aims to summarise the evidence regarding Long COVID in children and adolescents, incorporating the latest studies on this topic.

Tips for success, managing the paediatric patient in radiology.

Paediatric radiology is a fascinating and diverse field of medicine with many opportunities to gain expertise in a range of imaging modalities and body areas. Working with children makes imaging both rewarding and challenging, due to the wide range of patient ages encountered and the inherent variation in developmental needs. This requires a patient-focussed approach to manage their anxiety and ensure cooperation of the patient and their carers.

Interictal blood-brain barrier dysfunction in piriform cortex of people with epilepsy.

Objective: The piriform cortex is considered to be highly epileptogenic. Its resection during epilepsy surgery is a predictor for postoperative seizure freedom in temporal lobe epilepsy. Epilepsy is associated with a dysfunction of the blood-brain barrier.

Epilepsies.

Recent advances in genetic diagnosis have revealed the underlying etiology of many epilepsies and have identified pathogenic, causative variants in numerous ion and ligand-gated channel genes. This chapter describes the clinical presentations of epilepsy associated with different channelopathies including classic electroclinical syndromes and emerging gene-specific phenotypes. Also discussed are the archetypal epilepsy channelopathy, SCN1A-Dravet syndrome, considering the expanding phenotype.

Examining change in the mental health of young people with epilepsy following a successful psychological intervention.

Objective: Evaluate the cognitive, behavioural and affective processes involved in therapeutic change for young people with epilepsy and mental health difficulties receiving an integrated mental health intervention.

Methods: As part of a mixed methods convergent design, qualitative data were gathered in parallel to quantitative data at two timepoints in a randomised controlled trial testing the Mental Health Intervention for Children with Epilepsy in addition to usual care. Twenty-five young people and/or their families were interviewed before and after the intervention about the young person's mental and physical health, and their experience of therapy.

Case series: Congenital enterovirus infection-associated haemophagocytic lymphohistiocytosis and subsequent neutropaenia.

Congenital enterovirus infection can be associated with a pro-inflammatory state triggering haemophagocytic lymphohistiocytosis (HLH). Enteroviruses are also known to cause transient neutropenia in healthy children. Two infants presented with temperature instability, lethargy, thrombocytopaenia, hepatosplenomegaly and evidence of hyperinflammation in the setting of perinatal maternal rash and household contacts with gastrointestinal symptoms.

Nice to know 2: The impact of NICE guidelines on ketogenic diet services in the UK and Ireland - An update.

Background: Ketogenic diet therapy (KDT) has been recommended as a treatment for drug-resistant epilepsy in children and young people since 2012 in the National Institute for Health and Care Excellence Clinical Guidelines for Epilepsies. The Ketogenic Dietitians Research Network completed a survey in 2017 to assess the impact of these guidelines.

Methods: An online survey was circulated to ketogenic dietitians across the UK and Ireland.

Enhanced depletion of MLL-fusion proteins in acute leukemia: potential for improved therapeutic outcomes.

Rearrangements of the MLL (KMT2A) locus are associated with aggressive leukaemia of both myeloid and lymphoid lineages, that present profound therapeutic challenges in pediatric and adult patient populations. MLL-fusion genes resulting from these rearrangements function as driving oncogenes and have been the focus of research aimed at understanding mechanisms underlying their leukemogenic activity and revealing novel therapeutic opportunities. Inspired by the paradigm of depleting the PML-RARA fusion protein in acute promyelocytic leukemia using all-trans retinoic acid and arsenic trioxide, we conducted a screen to identify FDA-approved drugs capable of depleting MLL-fusion protein expression in leukemia cells.

Ambient lighting alters pattern electroretinogram P50 peak time and spatial sensitivity.

Purpose: Our aim was to explore the effect of ambient lighting on the pattern ERG (PERG).

Methods: We compared PERGs recorded in two conditions; room lights on and room lights off. PERGs from 21 adult participants were recorded from each eye to high contrast checks of 50' side width, reversing 3rps in a large (30°) and then standard (15°) field.