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Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and generalized arterial calcification of infancy (GACI) occur secondary to biallelic ectonucleotide pyrophosphate/phosphodiesterase 1 (ENPP1) loss-of-function pathogenic variants. GACI is a life-threatening condition, often presenting in the neonatal period with heart failure and hypertension, caused by calcification of the media in large- and medium-sized arteries.
Defining rurality matters in healthcare. Evidence supports the singularity of the rural experience and its detrimental impact on health outcomes and, specifically, on mental health. Yet, no internationally accepted definition of 'rural' exists.
New malaria vaccine development builds on groundbreaking recommendations and roll-out of two approved pre-erythrocytic vaccines (PEVs); RTS,S/AS01 and R21/Matrix-M. Whilst these vaccines are effective in reducing childhood malaria within yearly routine immunization programs or seasonal vaccination, there is little evidence on how different PEV efficacies, durations of protection, and spacing between doses influence the potential to avert uncomplicated and severe childhood malaria.
Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.
Managing bronchiectasis exacerbations is a priority for patients, parents, and caregivers of children with bronchiectasis. However, evidence-based strategies among the pediatric population remain limited.
Estimating the temporal trends in infectious disease activity is crucial for monitoring disease spread and the impact of interventions. Surveillance indicators routinely collected to monitor these trends are often a composite of multiple pathogens. For example, "influenza-like illness"-routinely monitored as a proxy for influenza infections-is a symptom definition that could be caused by a wide range of pathogens, including multiple subtypes of influenza, SARS-CoV-2, and RSV.
A considerable proportion of patients with type 1 diabetes (T1D) experience emotional problems due to the continual demands of the disease, which may persist throughout life without appropriate support. The aim of this study was to assess the feasibility and acceptability of an Acceptance and Commitment Therapy (ACT) intervention and provide early indications of its capacity to impact psychosocial outcomes for adolescents with T1D.
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.
Infants with KMT2A-rearranged B-cell acute lymphoblastic leukemia (ALL) have high rates of relapse and poor survival compared with children. Few new therapies have been identified over the past twenty years. The aim of this study was to identify existing anti-cancer agents that have the potential to be repurposed for the treatment of infant ALL.
Regular exercise can be beneficial for people living with a severe mental illness. By better understanding the perspectives and challenges of adults with severe mental illness who are engaged in exercise, we can enhance the design and implementation of exercise programs to better support their mental health and recovery.