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Probiotic supplementation in the neonatal period results in improved gut colonisation with probiotic bacteria in the short term. There is limited information on the long-term sustainability of this colonisation.
Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global population, or approximately 262.9–446.2 million people. The substantial healthcare burden and costs, such as the $1 trillion annual expense in the USA, highlight the urgent need for improved RD management. The International Rare Diseases Research Consortium (IRDiRC) addresses this need through global collaboration, aiming for timely and accurate diagnosis, development of 1000 new therapies, and methodologies to measure impact by 2027.
The prevalence of taeniasis in Thailand has decreased over the past six decades. However, it remains a public health concern, particularly in focal areas, especially along the border regions where migration between Thailand and neighboring endemic countries is frequent. Spatial distribution analysis provides a useful method for identifying high-risk areas and implementing targeted integrated control measures. This study aimed to examine the spatial patterns of taeniasis in 2008 and 2014, along with their associated One Health risk factors at the sub-district level.
It is unknown whether the nutritional quality of children's menus vary depending on the cuisine type. This study aimed to investigate differences in the nutritional quality of children's menus by cuisine type in restaurants located in Perth, Western Australia.
A substantial body of literature points to the educational and social benefits of school breakfast programs. Most high-income countries provide free or subsidized school breakfasts to support disadvantaged children. Australia does not have a nationally-funded school meal program. Instead, charitable organizations offer school breakfast programs on a voluntary basis, often with funding support from state/territory governments.
Risk factors for non-communicable diseases (NCDs, cardiovascular diseases, cancers, chronic respiratory diseases, diabetes, and mental disorders) arise in adolescence but are mostly framed as relevant to health in adulthood; little is known about the relationship between co-occurring NCD risks and mental wellbeing in young people.
Prebiotics research in the last decade has come a long way due to the maturation of omics technologies (genomics, transcriptomics, proteomics, metabolomics, and foodomics) and bioinformatics tools.
In recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases.
This study systematically reviewed Australian literature to determine if an association exists between geospatial exposure to food outlets and diet, health or weight status. Recommendations for future research are provided.
People living with rare diseases had a high risk of negative health outcomes due to COVID-19. Pandemic preparedness will ensure best practice procedures and optimal outcomes during future pandemic events. This paper sought to understand the needs of children with rare diseases during the COVID-19 pandemic to inform preparation for future pandemic and disaster events. First, impacts and outcomes from the COVID-19 pandemic on people living with rare disease were identified in the literature.
Despite the wide use of parenteral nutrition (PN) in neonatal intensive care units (NICU), there is limited evidence regarding the optimal time to commence PN in term and late preterm infants.
Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature".
The human gut microbiome has increasingly been associated with autism spectrum disorder (ASD), which is a neurological developmental disorder, characterized by impairments to social interaction.
Children living with a rare disease often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey. This journey significantly impacts their physical, mental and financial wellbeing, in addition to that of their families. The diagnostic odyssey is often characterised by anxiety and stress surrounding the uncertainty of the future. This is experienced by the patient as well as by the family.
Residents of rural areas internationally typically experience chronic disease risk profiles worse than city dwellers. Poor diet, a key driver of chronic disease, has been associated with unhealthy food environments, and rural areas often experience limited access to healthy, fresh and affordable food.
An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
Previous studies have suggested that individuals recovered from anorexia nervosa (AN) are characterized by increased serotonergic (5-HT) activity that might be related to elevated levels of anxiety. Assuming these traits to be also present in individuals at risk for AN, it was further hypothesized that restricting food intake might be a means to temporarily alleviate dysphoric affective states by reducing central nervous availability of tryptophan (TRP), the sole precursor of 5-HT.
The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey.
Research on the consequences of breakfast skipping among students tends to focus on academic outcomes, rather than student wellbeing or engagement at school. This study investigated the association between breakfast skipping and cognitive and emotional aspects of school engagement.
Recently, researchers from The Kids Research Institute Australia, Perth Children’s Hospital and The University of Western Australia contributed to three major international publications, collectively reinforcing rare diseases as a critical, community-wide health priority.