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Down syndrome, the most common genetic disorder, is caused by the presence of all or part of a third copy of chromosome 21. We identified the top 10 patient and carer research priorities for children with Down syndrome.
Non-suicidal self-injury (NSSI) is particularly common among trans young people. NSSI is most commonly used as an emotion regulation strategy, which may explain the high prevalence of the behavior among trans young people, who often experience unique stressors. In the current study we test an application of the Pantheoretical Framework of Dehumanization, in which transphobic experiences, body surveillance, body dissatisfaction, and gender dysphoria are all theorized to predict NSSI.
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.
Infants with KMT2A-rearranged B-cell acute lymphoblastic leukemia (ALL) have high rates of relapse and poor survival compared with children. Few new therapies have been identified over the past twenty years. The aim of this study was to identify existing anti-cancer agents that have the potential to be repurposed for the treatment of infant ALL.
Regular exercise can be beneficial for people living with a severe mental illness. By better understanding the perspectives and challenges of adults with severe mental illness who are engaged in exercise, we can enhance the design and implementation of exercise programs to better support their mental health and recovery.
OLIG2-expressing tumor stem cells have been shown to drive recurrence in Sonic Hedgehog (SHH)-subgroup medulloblastoma (MB) and patients urgently need specific therapies to target this tumor cell population.
Small case series have described awake supraglottic airway placement in infants with significant airway obstruction and difficult intubations. We conducted this study to determine outcomes when supraglottic airways were placed in awake children enrolled in the international Pediatric Difficult Intubation Registry including success of ventilation, success of tracheal intubation, and complications.
To describe Aboriginal and Torres Strait Islander communities' processes, positioning and experiences of health and medical research and their recommendations.
A wide spectrum of high-risk factors in pregnancy can lead to adverse pregnancy outcomes or short- or long-term health effects. Despite this, there has been no synthesis of findings on the measurement, potential causes, and health outcomes of multiple high-risk factors in pregnancy. We aimed to address this gap by summarising the existing research on this topic.
To estimate the developmental trends of quantitative parameters obtained from chest computed tomography (CT) and to provide normative values on dimensions of bronchi and arteries, as well as bronchus-artery (BA) ratios from preschool age to young adulthood.