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Psychometric validation of the quality of life Inventory − Disability (QI-Disability) among patients with Lennox-Gastaut syndrome and Dravet syndrome

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.

Evolution of islet autoantibodies in the Environmental Determinants of Islet Autoimmunity (ENDIA) prospective cohort

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.

Clinical decision rules for diagnosis of Streptococcus pyogenes sore throat in Fiji: a prospective diagnostic accuracy study

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.

Achieving cultural safety in genetic counseling for Aboriginal and Torres Strait Islander people in Australia

Globally, Indigenous people, including Aboriginal and Torres Strait Islander people in Australia, experience significantly poorer health outcomes than their non-Indigenous counterparts. In part, this can be attributed to the ongoing impacts of colonization, marginalization, and systemic discrimination. In the genomic healthcare era, Indigenous people remain underrepresented in public genetic health services, raising concerns about cultural competency and inclusivity within the genetic counseling profession.

Fc-Engineered B7-H3 Antibody with Prolonged Serum Half-Life for Enhanced Cancer Therapy

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.

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy

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.

Whose rural? Shaping rural psychiatry training in Aotearoa New Zealand

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.

Temporal analysis of respiratory virus epidemics in Victoria over winter 2024

During winter months of temperate regions, concurrent epidemics of multiple respiratory pathogens can occur, causing periods of increased clinical burden. Case time series, which are predominantly used to monitor infection levels, can exhibit substantial noise and day-of-the-week effects, limiting the visual interpretation of trends in raw data.

Body mass index, prebiotic supplementation during pregnancy and gestational diabetes mellitus risk: an effect modification analysis from a randomised controlled trial

Prebiotic dietary supplementation has been shown to improve glucose homeostasis in type 2 diabetes patients. The aim of this analysis was to determine whether pre-pregnancy body mass index (BMI) modifies the effect of prebiotic supplementation from mid-pregnancy on reducing the risk of gestational diabetes mellitus

Mapping facility-based tuberculosis preventive treatment provision in Ethiopia: a geospatial analysis

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.