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CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay.
Plant DNA preserved in ancient specimens has recently gained importance as a tool in comparative genomics, allowing the investigation of evolutionary processes in plant genomes through time. However, recovering the genomic information contained in such specimens is challenging owing to the presence of secondary substances that limit DNA retrieval.
The prevalence of bullying worldwide is high (UNESCO, 2018). Over the past decades, many anti-bullying interventions have been developed to remediate this problem. However, we lack insight into for whom these interventions work and what individual intervention components drive the total intervention effects.
The introduction of pathogens originating from Eurasia into the Americas during early European contact has been associated with high mortality rates among Indigenous peoples, likely contributing to their historical and precipitous population decline.
Pregnancy and the postnatal period can be a time of increased psychological distress, which can be detrimental to both the mother and the developing child. Digital interventions are cost-effective and accessible tools to support positive mental health in women during the perinatal period.
To explore factors influencing postoperative experiences of adult cochlear implant (CI) recipients, determine the impact of each factor, and conceptualize recipients' postoperative journey.
Media guidelines for the responsible reporting of suicide are a recognized universal suicide prevention intervention. While implemented in numerous countries, including Australia, little is known about whether they are cost-effective.
We assessed the utility of routine viral surveillance for cytomegalovirus, Epstein–Barr virus and human adenovirus in children <16 years, undergoing autologous stem cell transplantation (ASCT) at a single centre over a 10-year period. A total of 85 ASCT were performed in 65 patients.
There are limited methods to assess how dietary patterns adhere to a healthy and sustainable diet. The aim of this study was to develop a theoretically derived Healthy and Sustainable Diet Index.
This systematic review aimed to identify the most important social, environmental, biological, and/or genetic risk factors for intellectual disability.