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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.
Citation: Junaid M, Downs J, Groza T, Lassmann T, Baker S, et al. The United Nations convention on rare diseases—A framework for research
Intramuscular (IM) injection of benzathine benzylpenicillin G (BPG) forms the cornerstone of acute rheumatic fever (ARF) and rheumatic heart disease (RHD) secondary prophylaxis. BPG is available as either a low-cost powdered formulation or a costlier pre-filled suspension. Most of the global RHD burden lies in low- and middle-income countries, which rely on the powdered formulation.
This article documents the establishment of community laundries in rural/remote Aboriginal and Torres Strait Islander communities between 2000-2024, with the aim to support synergistic planning, implementation and evaluation.
Many children and their families, especially those from priority populations, experience barriers to accessing high-quality early childhood health, education, social and legal services. Further, these families are often under-represented in service planning and research; hence innovations are not designed to meet their needs. Our aim is to codesign with families and the wider community, a Strength-based, Tiered, Accessible Resources and Supports for Kids (STARS for Kids) programme to optimise child development, parental mental well-being, and family psychosocial needs in the first 2000 days from pregnancy to start of school
B-cell acute lymphoblastic leukemia (B-ALL) is the most common pediatric cancer. Current therapeutic regimens have improved 5-year event-free survival rates to 90%, however clinical outcomes for high-risk subgroups, such as BCR-ABL1+ B-ALL and relapsed ALL, remain poor. In addition, 16% of newly diagnosed children with ALL present with vertebral compression fractures. Moreover, 16% of children with ALL undergoing glucocorticoid therapy also experience a high incidence of vertebral fractures, indicating that bone health may be compromised by both leukemia progression and osteotoxicity of chemotherapy.
Tuberculosis (TB) remains a major public health challenge in Ethiopia, despite being a preventable disease. TB preventive treatment (TPT) is a critical intervention to prevent the progression from latent TB infection to active disease, particularly among household contacts of TB patients and people living with HIV due to weakened immunity. However, the initiation and completion rates of TPT at subnational and local levels have not been thoroughly investigated. This study aims to map facility-based TPT initiation and completion rates among household contacts of TB across Ethiopia.
Although uncommon, invasive meningococcal disease (IMD) results in death in 5%-10% of cases in healthy children and adolescents. This study aimed to examine demographics, clinical presentation, treatment and outcomes of Australian children hospitalized with IMD during the introduction of the meningococcal vaccine program, overall and by serogroup/disease severity.
This article reflects on deeply ingrained societal biases with regard to gender. Patriarchal structures and gender socialization have created a perceived incongruity between traditional leadership qualities and traits associated with women. This perception, explained by the role congruity theory, contributes to prejudice against female leaders and can lead to toxic male behavior being misidentified as "strong" leadership. We further examine cognitive shortcuts, specifically implicit bias and the affect heuristic, which perpetuate unconscious favoritism towards male leaders.