Sleep Behaviour in Sickle Cell Disease: A Systematic Review and Meta-Analysis.

There is a high prevalence of sleep behaviour disorders, as well as sleep disordered breathing (SDB), in individuals living with sickle cell disease (SCD). SDB has been systematically reviewed; therefore, this systematic review and meta-analysis focused on sleep behaviour. The comprehensive literature search, following PRISMA reporting guidelines, included all languages, conference proceedings and published theses from inception through February 2022.

International benchmarking of stage at diagnosis for six childhood solid tumours (the BENCHISTA project): a population-based, retrospective cohort study.

Background: International variation in childhood cancer survival might be explained by differences in stage at diagnosis, among other factors. As part of the BENCHISTA project, we aimed to assess geographical variation in tumour stage at diagnosis through the application, by population-based cancer registries working with clinicians, of the international consensus Toronto Childhood Cancer Stage Guidelines.

Methods: This population-based, retrospective cohort study involved 67 cancer registries from 23 European countries, Australia, Brazil, Japan, and Canada.

Spectral Analysis of Light-Adapted Electroretinograms in Neurodevelopmental Disorders: Classification with Machine Learning.

Electroretinograms (ERGs) show differences between typically developing populations and those with a diagnosis of autism spectrum disorder (ASD) or attention deficit/hyperactivity disorder (ADHD). In a series of ERGs collected in ASD ( = 77), ADHD ( = 43), ASD + ADHD ( = 21), and control ( = 137) groups, this analysis explores the use of machine learning and feature selection techniques to improve the classification between these clinically defined groups. Standard time domain and signal analysis features were evaluated in different machine learning models.

Complex I deficiency remains the most frequent cause of Leigh syndrome spectrum.

This scientific commentary refers to 'Biallelic variants lead to a neurodevelopmental phenotype with gradual neurological impairment', by Kaiyrzhanov . (https://doi.org/10.

Utilities Associated with the Treatment of Growth Hormone Deficiency (GHD): A Time Trade-off (TTO) Study in the UK and Canada.

Purpose: Growth hormone deficiency (GHD) causes decreased growth rate in children, resulting in short stature in childhood and adulthood. Daily subcutaneous injections with growth hormone (GH) have been standard treatment. Newer weekly GH formulations now exist.

Refining computer-assisted SEEG planning with spatial priors - A novel comparison of implantation strategies across adult and paediatric centres.

Objectives: Computer-assisted planning (CAP) allows faster SEEG planning and improves grey matter sampling, orthogonal drilling angles to the skull, reduces risk scores and minimises intracerebral electrode length. Incorporating prior SEEG trajectories enhances CAP planning, refining output with centre-specific practices. This study significantly expands on the previous work, compares priors libraries between two centres, and describes differences between SEEG in adults and children in these centres.

Predictive equation derived from 6,497 doubly labelled water measurements enables the detection of erroneous self-reported energy intake.

Nutritional epidemiology aims to link dietary exposures to chronic disease, but the instruments for evaluating dietary intake are inaccurate. One way to identify unreliable data and the sources of errors is to compare estimated intakes with the total energy expenditure (TEE). In this study, we used the International Atomic Energy Agency Doubly Labeled Water Database to derive a predictive equation for TEE using 6,497 measures of TEE in individuals aged 4 to 96 years.

Reichert's membrane - A continuing enigma for developmental biologists.

Reichert's membrane (RM) is a basement membrane of gigantic proportions that surrounds the mammalian embryo following implantation. It is part of the parietal yolk sac, which originates from the wall of the preimplantation blastocyst. RM persists from implantation to birth in rodents and analogous structures occur in other mammals, including primates.

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

Relationships between hearing, auditory processing, and communication in children diagnosed with auditory neuropathy spectrum disorder.

Objectives: The objectives of this study were to evaluate the relationships between auditory processing, speech discrimination, and listening and communication abilities in children diagnosed with auditory neuropathy spectrum disorder (ANSD) compared to those with normal hearing.

Methods: This was a case-control study involving seventeen participants with a diagnosis of ANSD who used spoken language as their primary mode of communication and wore hearing aids or were unaided and 21 normally hearing controls. All underwent a battery of behavioural measures of hearing, speech perception and auditory processing skills.

Systematic review of integrated mental and physical health services for children and young people with eating and functional symptoms.

Background: Evidence suggests that by recognising the psychosocial component of illness as equally important to the biological components, care becomes more holistic, and patients can benefit. Providing this type of care requires collaboration among health professionals, rather than working in isolation, to achieve better outcomes. However, there is a lack of evidence about the implementation of integrated health care.

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.

Integration of physical and mental health services for children and young people with eating disorders and functional symptom disorders: discrete choice experiment.

Background: Given the increasing recognition of the value of greater integration of physical and mental health services for children and young people, we aimed to evaluate preferences among parents for the characteristics associated with integrated health service provision for two conditions (eating disorders, functional symptom disorders).

Methods: Two discrete choice experiments (DCEs) were conducted, using electronic surveys. Participants were adult parents of children and young people.

The American Clinical Neurophysiology Society Guideline on Indications for Continuous Electroencephalography Monitoring in Neonates.

Purpose: Continuous EEG (cEEG) monitoring is increasingly used in the management of neonates with seizures. There remains debate on what clinically relevant information can be gained from cEEG in neonates with suspected seizures, at high risk for seizures, or with definite seizures, as well as the use of cEEG for prognosis in a variety of conditions. In this guideline, we address these questions using American Clinical Neurophysiology Society structured methodology for clinical guideline development.

Evaluation of Phoenix Sepsis Score Criteria: Exploratory Analysis of Characteristics and Outcomes in an Emergency Transport PICU Cohort From the United Kingdom, 2014-2016.

Objectives: To assess characteristics and outcomes of children with suspected or confirmed infection requiring emergency transport and PICU admission and to explore the association between the 2024 Phoenix Sepsis Score (PSS) criteria and mortality.

Design: Retrospective analysis of curated data from a 2014-2016 multicenter cohort study.

Setting: PICU admission following emergency transport in South East England, United Kingdom, from April 2014 to December 2016.

Guided Self-Help Treatment for Children and Young People With Eating Disorders: A Proof-Of-Concept Pilot Study.

Objective: To conduct a proof-of-concept pilot study of a CBT guided self-help intervention for children and young people with eating disorders.

Method: Children and young people were recruited from two outpatient eating disorder services in England. They received a CBT guided self-help intervention consisting of eight modules and weekly support sessions.

Type I interferon and mitochondrial dysfunction are associated with dysregulated cytotoxic CD8+ T cell responses in juvenile systemic lupus erythematosus.

Juvenile systemic lupus erythematosus (JSLE) is an autoimmune condition which causes significant morbidity in children and young adults and is more severe in its presentation than adult-onset SLE. While many aspects of immune dysfunction have been studied extensively in adult-onset SLE, there is limited and contradictory evidence of how cytotoxic CD8+ T cells contribute to disease pathogenesis and studies exploring cytotoxicity in JSLE are virtually non-existent. Here, we report that CD8+ T cell cytotoxic capacity is reduced in JSLE versus healthy controls, irrespective of treatment or disease activity.

Distinct virologic trajectories in chronic hepatitis B identify heterogeneity in response to nucleos(t)ide analogue therapy.

Background & Aims: The dynamics of HBV viral load (VL) in patients with chronic hepatitis B (CHB) on nucleos(t)ide analogue (NA) treatment and its relationship with liver disease are poorly understood. We aimed to study longitudinal VL patterns and their associations with CHB clinical outcomes.

Methods: Utilising large scale, routinely collected electronic health records from six centres in England, collated by the National Institute for Health and Care Research Health Informatics Collaborative (NIHR HIC), we applied latent class mixed models to investigate VL trajectory patterns in adults receiving NA treatment.

Reverse-engineering the Venus figurines: An eco-life-course hypothesis for the aetiology of obesity in the Palaeolithic.

Evolutionary perspectives on obesity have been dominated by genetic frameworks, but plastic responses are also central to its aetiology. While often considered a relatively modern phenomenon, obesity was recorded during the Palaeolithic through small statuettes of the female form (Venus figurines). Even if the phenotype was rare, these statuettes indicate that some women achieved large body sizes during the last glacial maximum, a period of nutritional stress.

Investigating the pathogenicity of the recessive p.A251T variant in monogenic diabetes using iPSC-derived beta-like cells.

Monogenic diabetes, formerly called Maturity-Onset Diabetes of the Young (MODY), involves single-gene mutations, typically with dominant inheritance, and has been associated with variants in 14 genes. Among these, mutations are the most common, and their diagnosis allows the use of alternative therapies, including sulfonylureas. In an earlier study, we described a variant displaying recessive transmission, p.