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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. 

The Koolungar Moorditj Healthy Skin Project: Elder and Community Led Resources Strengthen Aboriginal Voice for Skin Health

In partnership with local Aboriginal Community Controlled Health Organisations, the Elder-led co-designed Koolungar Moorditj Healthy Skin project is guided by principles of reciprocity, capacity building, respect, and community involvement. Through this work, the team of Elders, community members, clinicians and research staff have gained insight into the skin health needs of urban-living Aboriginal koolungar (children); and having identified a lack of targeted and culturally appropriate health literacy and health promotion resources on moorditj (strong) skin, prioritised development of community-created healthy skin resources.

Minimising Adverse Drug Reactions and Verifying Economic Legitimacy-Pharmacogenomics Implementation in Children (MARVEL- PIC): protocol for a national randomised controlled trial

DNA-informed prescribing (termed pharmacogenomics, PGx) is the epitome of personalised medicine. Despite international guidelines existing, its implementation in paediatric oncology remains sparse.

An overview of risk factors, management and prevention of cochlear implant infections

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.

Exploring a Preliminary Set of Indicators to Measure Adolescent Health: Results From a 12-Country Feasibility Study

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

Urinary Ferritin as a Noninvasive Means of Assessing Iron Status in Young Children

Iron deficiency (ID) is the most common nutritional deficiency affecting young children. Serum ferritin concentration is the preferred biomarker for measuring iron status because it reflects iron stores; however, blood collection can be distressing for young children and can be logistically difficult. A noninvasive means to measure iron status would be attractive to either diagnose or screen for ID in young children.

Human movement and environmental barriers shape the emergence of dengue

Understanding how emerging infectious diseases spread within and between countries is essential to contain future pandemics. Spread to new areas requires connectivity between one or more sources and a suitable local environment, but how these two factors interact at different stages of disease emergence remains largely unknown.

Global fertility in 204 countries and territories, 1950-2021, with forecasts to 2100: a comprehensive demographic analysis for the Global Burden of Disease Study 2021

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. 

Global burden of 288 causes of death and life expectancy decomposition in 204 countries and territories and 811 subnational locations, 1990-2021

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. 

Indicators to Measure Adolescent Health at the Country, Regional, and Global Levels: Results of a Five-Year Selection Process by the Global Action for the Measurement of Adolescent Health

To improve adolescent health measurement, the Global Action for the Measurement of Adolescent health (GAMA) Advisory Group was formed in 2018 and published a draft list of 52 indicators across six adolescent health domains in 2022. We describe the process and results of selecting the adolescent health indicators recommended by GAMA (hereafter, “GAMA-recommended indicators”).