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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.
Over 90% of US children with cancer are treated at Children's Oncology Group (COG) centers, which seek to maximize enrollment in therapeutic and biobanking studies. Rare cancers have demonstrated lower than expected COG enrollment. We evaluated trends in COG rare cancer enrollment compared to US incidence from Surveillance, Epidemiology, and End Results (SEER) registries, examining the impact of COG therapeutic trials and Project:EveryChild, a cancer biobank/registry.
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.
Research on the health literacy of parents with children with intellectual disability is limited. Understanding parents' healthcare skills and needs is essential for improving children's health and developing effective support. In this study we aimed to (1) explore the health literacy skills of parents that enabled them to support the health needs of their child with intellectual disability and the factors influencing these skills, and (2) identify opportunities to support parent health literacy.
Mesothelioma is a cancer derived from mesothelial cells, most commonly arising from the pleura or the peritoneum. Immune checkpoint therapy (ICT) has shown survival benefit for pleural mesothelioma, but little is known about the response in peritoneal mesothelioma. Most preclinical mesothelioma models involve subcutaneous cancer cell implantation, which lacks the relevant tumour microenvironment of peritoneal mesothelioma and does not resemble the clinical presentation.
Information on factors contributing to quality of life (QOL) informs meaningful patient-centred care. We evaluated factors influencing QOL in individuals with developmental and epileptic encephalopathy (DEE) and other severe neurodevelopmental encephalopathy conditions using hypothesis-free regression tree analysis.
Qualitative research on sensitive topics (e.g. abuse, mental health difficulties, discrimination) is needed to understand lived experiences of complex issues. However, this type of research raises concerns about potential adverse effects on participants, especially with younger participants and those from marginalized populations. In this study, we conducted a reflexive thematic analysis of 20 trans adolescents’ (14–18 years of age) experiences of participating in research about their stigma experiences.
Children's development is dependent on a range of factors influencing their life course outcomes. Protective and challenging social and cultural determinants impact how Indigenous families support their children's developmental foundations. However, there is a lack of international evidence investigating Indigenous child development interventions.
Human milk is a rich source of immunomodulatory factors that influence the development of the infant immune system, including susceptibility to allergic diseases. Among these components, milk antibodies have been extensively studied for their role in protecting against infections; however, their potential contribution to allergy prevention may be equally important. The mechanisms of protection include allergen exclusion, enhanced and targeted antigen presentation, immune modulation via shaping of the infant gut microbiome, and direct regulation of gut immune responses.
Physical constraints of small apartment kitchens and the influence of the surrounding community food environment may impact food practices of apartment residents. Social media portrayal of these features may influence public perception of apartment living.