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X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment

X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X-linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae, however there are likely other non-FGF23 mediated mechanisms contributing to disease

Returning raw genomic data to research participants in a pediatric cancer precision medicine trial

In pediatric cancer precision medicine clinical trials settings, parents proactively seeking treatment and answers to causation may request return of their child's raw data and/or biospecimen. To satisfy such requests, the ZERO Childhood Cancer Program required a guidance document.

Catalysing change in health and medical research policy: an Australian case study of deliberative democracy to reform sex and gender policy recommendations

Revising public health policy based on new data does not happen automatically. This is acutely relevant to the now undeniable evidence that many diseases develop differently between the sexes and may also be affected by gender. Current health and medical practices across the globe generally fail to cater for sex and gender effects in common diseases. 

Eating and drinking abilities and respiratory and oral health in children and young adults with cerebral palsy

To investigate the potential risk factors of respiratory illness (ethnicity, oral health, and eating and drinking ability) in children and young adults with cerebral palsy.

Resting Energy Expenditure and Metabolic Features in Children With Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD. 

Critical Appraisal of Systematic Reviews Assessing Gut Microbiota and Effect of Probiotic Supplementation in Children with ASD—An Umbrella Review

Given the significance of gut microbiota in autism spectrum disorder (ASD), we aimed to assess the quality of systematic reviews (SRs) of studies assessing gut microbiota and effects of probiotic supplementation in children with ASD. PubMed, EMBASE, PsycINFO, Medline, and Cochrane databases were searched from inception to November 2024. 

Analysis of Adherence Junctions in Rhinovirus-Infected Airway Epithelial Cells

The airway mucosal epithelium is the main gateway of entry for numerous human respiratory viruses, including human influenza virus, respiratory syncytial virus, coronavirus, and rhinoviruses. For respiratory viruses to perpetuate infection, they must be able to traverse the airway mucosal epithelium and then spread into distal sites of the respiratory tract and lung parenchyma.

Investigation of Differentiated Nasal Epithelial Responses to Infection with Clinical Isolates of Rhinovirus A and C

The nasal epithelium is the primary point of contact for inhaled respiratory viruses such as rhinovirus, respiratory syncytial virus, influenza, and coronavirus, among others. In order to establish infection, these viruses must engage their respective receptors located on host epithelial cells and begin replication.

Efficacy, Safety, and Immunogenicity of the MATISSE (Maternal Immunization Study for Safety and Efficacy) Maternal Respiratory Syncytial Virus Prefusion F Protein Vaccine Trial

To evaluate descriptive efficacy data, exploratory immunogenicity data, and safety follow-up through study completion from the global, phase 3 MATISSE (Maternal Immunization Study for Safety and Efficacy) maternal vaccination trial of bivalent respiratory syncytial virus (RSV) prefusion F protein vaccine (RSVpreF).