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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".
Humans are commonly exposed to plastic through their dietary intake and food consumption patterns. Plastic-associated chemicals (PAC), such as bisphenols and phthalates, are recognized as endocrine-disrupting and are associated with increased risk of cardiovascular disease and metabolic syndrome. However, accurate methods to assess dietary exposure to plastic products and PAC are inadequate, limiting interrogation of health impacts.
Acute lower respiratory infections (ALRIs) are a major contributor to the global infectious disease burden and a common cause of hospitalisation for children under 2 years. We compared clinical severity in children hospitalised with respiratory syncytial virus (RSV), parainfluenza virus (PIV), human metapneumovirus (hMPV) and influenza virus (IFV).
This consensus statement recommends eight high-level trackable policy actions most likely to significantly improve health and wellbeing for children and young people by 2030. These policy actions include an overarching policy action and span seven interconnected domains that need to be adequately resourced for every young person to thrive: Material basics; Valued, loved and safe; Positive sense of identity and culture; Learning and employment pathways; Healthy; Participating; and Environments and sustainable futures.
Each year, approximately 1000 children in Australia and New Zealand, aged 0–14 years, are diagnosed with cancer. Despite paediatric cancer accounting for less than 1% of all cancer cases, the impact on their families and communities is profound and disproportionate.
Testing and treating symptomatic malaria cases is crucial for case management, but it may also prevent future illness by reducing mean infection duration. Measuring the impact of effective treatment on burden and transmission via field studies or routine surveillance systems is difficult and potentially unethical. This project uses mathematical modeling to explore how increasing treatment of symptomatic cases impacts malaria prevalence and incidence.
The clinical consequences of an antibiotic allergy label are detrimental, impacting health care delivery and patient outcomes. We assessed hospital inpatients with intent to offer free antibiotic allergy labeling assessment within a randomized controlled trial. We sought to determine the feasibility of establishing an adult antibiotic allergy delabeling service in a Western Australian tertiary public hospital.
The prevalence estimates of physical activity, sedentary behavior, and sleep (collectively known as movement behaviors) in 3- and 4-year-old children worldwide remains uncertain.
Cancer prevention and care efforts have been challenged by the COVID-19 pandemic and armed conflicts, resulting in a decline in the global Human Development Index (HDI), particularly in low- and middle-income countries. These challenges and subsequent shifts in health care priorities underscore the need to continuously monitor cancer outcome disparities and statistics globally to ensure delivery of equitable and optimal cancer prevention and care in uncertain times.
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.