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To evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.
Islet autoantibodies herald early type 1 diabetes. However, less is known of the evolution of autoantibodies to the islet autoantigen ZnT8. Our primary aim was to characterise the development of islet autoantibodies in a pregnancy-birth at-risk cohort and to provide new knowledge about ZnT8A.
Acute rheumatic fever is an immune-mediated condition triggered by Streptococcus pyogenes sore throat and possibly skin infection, with a substantial burden in resource-limited settings. Clinical decision rules (CDRs) are commonly used to guide antibiotic treatment of sore throat based on signs and symptoms, but their diagnostic accuracy varies by study and setting. This work aimed to assess the accuracy of multiple CDRs in Fiji to diagnose S. pyogenes sore throat.
Monoclonal antibodies are revolutionizing the landscape of current cancer treatment, bringing hope to patients with incurable cancers. B7-H3 (CD276) is an attractive therapeutic target for antibody-based therapy due to its low or absent expression in normal tissues and high expression in various types of tumors, including prostate cancer, pancreatic cancer, and high-mortality esophageal squamous cell carcinoma (ESCC). In recent years, various B7-H3-targeting antibodies have been developed for cancer treatment, with a few making their way to clinical trials.
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.
Citation: Junaid M, Downs J, Groza T, Lassmann T, Baker S, et al. The United Nations convention on rare diseases—A framework for research
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.