A Self-led Self-management Intervention Supporting Teens with IBD (ASSIST-IBD): protocol for a feasibility study of a novel digital treatment adherence intervention.

Introduction: Treatment non-adherence is common in young people with inflammatory bowel disease (IBD), yet support is lacking. A self-led self-management intervention supporting teens with IBD (ASSIST-IBD) is a new theory-based digital treatment adherence intervention, co-developed by young people living with IBD. ASSIST-IBD includes 10 short modules supporting adolescents to feel confident to follow their treatment plan, develop skills to overcome adherence obstacles, feel confident when talking to others about IBD and feel positive about the future.

Regulatory elements in (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

Presentation and characteristics of children with screen-detected type 1 diabetes: learnings from the ELSA general population pediatric screening study.

Introduction: We describe the identification and management of general population screen-detected type 1 diabetes (T1D) and share learnings for best practice.

Research Design And Methods: Children diagnosed with T1D through a general population screening initiative, the EarLy Surveillance for Autoimmune diabetes (ELSA) study, were reviewed and described.Parents provided written, informed consent for inclusion in the case series.

Treating severe paediatric asthma with mepolizumab or omalizumab: a protocol for the TREAT randomised non-inferiority trial.

Introduction: A minority of school-aged children with asthma have persistent poor control and experience frequent asthma attacks despite maximal prescribed maintenance therapy. These children have higher morbidity and risk of death. The first add-on biologic therapy, omalizumab, a monoclonal antibody that blocks immunoglobulin (Ig)E, was licensed for children with severe asthma in 2005.

Gut microbiota and intestinal rehabilitation: a prospective childhood cohort longitudinal study of short bowel syndrome (the MIRACLS study): study protocol.

Introduction: Short bowel syndrome (SBS) is the predominant cause of paediatric intestinal failure. Although life-saving, parenteral nutrition (PN) is linked to complications and may impact quality of life (QoL). Most children will experience intestinal rehabilitation (IR), but the mechanisms underpinning this remain to be understood.

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.

The RUNT-related transcription factor RUNX2 plays a critical role in osteoblast differentiation, and alterations to gene dosage cause distinct craniofacial anomalies. Uniquely amongst the RUNT-related family, vertebrate RUNX2 encodes a polyglutamine/polyalanine repeat (Gln-Glu-Ala in humans), with the length of the polyalanine component completely conserved in great apes. Surprisingly, a frequent 6-amino acid deletion polymorphism, p.

Risk factors for asthma-related hospital and intensive care admissions in children, adolescents and adults: a cohort study using primary and secondary care data.

Background: Asthma remains a common cause of hospital admissions across the life course. We estimated the contribution of key risk factors to asthma-related hospital and intensive care unit (ICU) admissions in children, adolescents and adults.

Methods: This was a UK-based cohort study using linked primary care (Clinical Practice Research Datalink Aurum) and secondary care (Hospital Episode Statistics Admitted Patient Care) data.

Experiences and impact of psychiatric inpatient admissions far away from home: a qualitative study with young people, parents/carers and healthcare professionals.

Background: There are significant clinical, policy and societal concerns about the impact on young people (YP), from admission to psychiatric wards far from home. However, research evidence is scarce.

Aims: To investigate the impact of at-distance admissions to general adolescent units, from the perspectives of YP, parents/carers and healthcare professionals (HCPs) including service commissioners, to inform clinical practice, service development and policy.

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

Neurodevelopmental disorders are major indications for genetic referral and have been linked to more than 1500 loci including genes encoding transcriptional regulators. The dysfunction of transcription factors often results in characteristic syndromic presentations; however, at least half of these patients lack a genetic diagnosis. The implementation of machine learning approaches has the potential to aid in the identification of new disease genes and delineate associated phenotypes.

Protocol for a scoping review to identify research reporting on eating disorders in minority ethnic populations in the UK, Canada, Australia and New Zealand.

Introduction: Eating disorders (EDs) are common, severe and often life-threatening psychiatric conditions. Notwithstanding stereotypes, EDs affect individuals from all racial and ethnic backgrounds. However, despite similar and in some cases increased prevalence of disordered eating and EDs among minority ethnic groups, there appear to be disparities when it comes to ED diagnosis and treatment.

Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.

Purpose: The UK 100,000 Genomes Project offered participants screening for additional findings (AFs) in genes associated with familial hypercholesterolemia (FH) or hereditary cancer syndromes including breast/ovarian cancer (HBOC), Lynch, familial adenomatous polyposis, MYH-associated polyposis, multiple endocrine neoplasia (MEN), and von Hippel-Lindau. Here, we report disclosure processes, manifestation of AF-related disease, outcomes, and costs.

Methods: An observational study in an area representing one-fifth of England.

Biallelic loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.

Homozygous plakophilin-2 () variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases.

How to perform and interpret a middle cerebral artery transcranial Doppler examination in children at risk of brain injury.

Transcranial Doppler (TCD) ultrasound is a non-invasive neuromonitoring technique that falls under the umbrella of point-of-care ultrasound. In this article, we provide a primer to encourage clinicians to perform TCD examinations and to aid them with accurately interpreting the scans. We focus on the middle cerebral artery waveforms and use traumatic brain injury as a model for brain insult.

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.

HNRNPU encodes a multifunctional RNA-binding protein that plays critical roles in regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and dysregulation of HNRNPU have been implicated in various human diseases, including cancers and neurological disorders. We applied a next generation sequencing based assay (EPIC-NGS) to investigate genome-wide methylation profiling for >2 M CpGs for 7 individuals with a neurodevelopmental disorder associated with HNRNPU germline pathogenic loss-of-function variants.

Calcium supplementation to prevent pre-eclampsia: protocol for an individual participant data meta-analysis, network meta-analysis and health economic evaluation.

Introduction: Low dietary calcium intake is a risk factor for pre-eclampsia, a major contributor to maternal and perinatal mortality and morbidity worldwide. Calcium supplementation can prevent pre-eclampsia in women with low dietary calcium. However, the optimal dose and timing of calcium supplementation are not known.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, a recurrence risk of 1-2% is frequently quoted due to the possibility of parental germline mosaicism; but for any specific couple, this figure is usually incorrect. We present a systematic approach to providing individualized recurrence risk. By combining locus-specific sequencing of multiple tissues to detect occult mosaicism with long-read sequencing to determine the parent-of-origin of the mutation, we show that we can stratify the majority of couples into one of seven discrete categories associated with substantially different risks to future offspring.

Exposure to domestic abuse and the subsequent risk of developing periodontal disease.

Aims: Periodontal disease and domestic abuse (DA) are significant public health problems. Previous cross-sectional evidence indicates an association between DA exposure and development of periodontal disease. There have been no large-scale cohort studies exploring this relationship in a UK-setting.

Association between childhood maltreatment and atopy in the UK: A population based retrospective cohort study.

Background: Childhood maltreatment affects over one in three children worldwide and is associated with a substantial disease burden. This study explores the association between childhood maltreatment and the development of atopic disease.

Methods: We did a population-based retrospective matched open cohort study using participating general practices between 1st January 1995 and 30th September 2019.