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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.
X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr.
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.
Citation: Junaid M, Downs J, Groza T, Lassmann T, Baker S, et al. The United Nations convention on rare diseases—A framework for research
Citation: Gardner M, Shah S, Jain N, Bynevelt M. Rare Occurrence of Congenital Neuroblastoma and Tuberous Sclerosis. Pediatr Neurol. 2026;176:62-3.
Since their first detection in 2010, Plasmodium falciparum malaria parasites lacking the P. falciparum histidine-rich protein 2 gene (pfhrp2) have been observed in 40 of 47 surveyed countries, as documented by the World Health Organization. These genetic deletions reduce detection by the most widely used rapid diagnostic tests, prompting three countries to switch to alternative diagnostics.
Multiple sclerosis (MS) demonstrates a latitude gradient in prevalence and severity, implicating ultraviolet B (UVB) exposure and photoimmune mechanisms in disease risk and progression. While narrowband (NB)-UVB phototherapy has long stabilized inflammation in dermatology, its systemic immunomodulatory effects in MS remain incompletely defined.
Masculine norms influence internalizing problems in men. The processes that explain this association are not yet comprehensively understood. However, there exists a compelling argument to highlight the role of emotional functioning in explaining how conformity to the traditional Western conceptualization of masculine norms confers risk for internalizing problems.
Physical activity is crucial for young children's health and development. Many young children do not meet the recommended 3 hours of daily physical activity, including 60 min of energetic play. Early childhood education and care (ECEC/childcare) is a key setting to intervene to improve children's physical activity. The Play Active programme is a scalable evidence-informed ECEC-specific physical activity policy intervention with implementation support strategies to improve educators' physical activity-related practices.