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An in-depth investigation of gene regulation and cell populations at sites of fetal blood-cell production provides clues as to why children with Down’s syndrome are predisposed to developing leukaemia.

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. 

LGBTQA + people are less likely to access mental health care despite an increased risk of adverse mental health outcomes including suicidal thoughts and behaviours. The present study aimed to explore Australian LGBTQA + young people's perceptions of key factors associated with access to suicide prevention services.

With cochlear implantation becoming increasingly performed worldwide, an understanding of the risk factors, preventive measures, and management of cochlear implant (CI) infection remains important given the significant morbidity and cost it conveys.

This study highlights the importance of human milk in providing anti-severe acute respiratory syndrome coronavirus 2 immunity to newborns. The highest protective activity of human milk against COVID-19 was found in colostrum from infected mothers.

To explore data availability, perceived relevance, acceptability and feasibility of implementing 52 draft indicators for adolescent health measurement in different countries globally.

Mucopolysaccharidosis type IIIA (MPS IIIA) is characterized by neurological and skeletal pathologies caused by reduced activity of the lysosomal hydrolase, sulfamidase, and the subsequent primary accumulation of undegraded heparan sulfate (HS). Respiratory pathology is considered secondary in MPS IIIA and the mechanisms are not well understood. 

Accurate assessments of current and future fertility-including overall trends and changing population age structures across countries and regions-are essential to help plan for the profound social, economic, environmental, and geopolitical challenges that these changes will bring. Estimates and projections of fertility are necessary to inform policies involving resource and health-care needs, labour supply, education, gender equality, and family planning and support. 

Regular, detailed reporting on population health by underlying cause of death is fundamental for public health decision making. Cause-specific estimates of mortality and the subsequent effects on life expectancy worldwide are valuable metrics to gauge progress in reducing mortality rates. These estimates are particularly important following large-scale mortality spikes, such as the COVID-19 pandemic. When systematically analysed, mortality rates and life expectancy allow comparisons of the consequences of causes of death globally and over time, providing a nuanced understanding of the effect of these causes on global populations.