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RUNX2 regulates leukemic cell metabolism and chemotaxis in high-risk T cell acute lymphoblastic leukemiaT cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy with inferior outcome compared with that of B cell ALL. Here, we show that Runt-related transcription factor 2 (RUNX2) was upregulated in high-risk T-ALL with KMT2A rearrangements (KMT2A-R) or an immature immunophenotype. In KMT2A-R cells, we identified RUNX2 as a direct target of the KMT2A chimeras, where it reciprocally bound the KMT2A promoter, establishing a regulatory feed-forward mechanism.
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Mental health difficulties among trans and gender diverse young people with an autism spectrum disorder (ASD): Findings from Trans PathwaysRecent research highlights an overlap of gender diversity and autism spectrum disorders (ASD); however, data on individuals who are trans and also on the autism spectrum are largely from clinical samples and may not be representative of individuals who are trans with ASD in the general population. In addition, there is scant literature on the mental health of these individuals and their experiences in accessing gender-affirming care.
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Occurrence and timely management of problems requiring prompt intervention among Indigenous compared with non-Indigenous Australian palliative care patients: A multijurisdictional cohort studyAnticipation and prompt relief of symptoms among patients with a life-limiting illness is a core element of palliative care. Indigenous Australians commonly encounter cultural barriers in healthcare that may impair outcomes. The Palliative Care Outcomes Collaboration collects patient care data for the purposes of continuous quality improvement and benchmarking, with each recorded care episode divided into phases that reflect a patient's condition.
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Research using population-based administration data integrated with longitudinal data in child protection settings: A systematic reviewOver the past decade there has been a marked growth in the use of linked population administrative data for child protection research. This is the first systematic review of studies to report on research design and statistical methods used where population-based administrative data is integrated with longitudinal data in child protection settings.
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Association between ABO, Rh blood groups, lip and dermatoglyphic patterns, and nonsyndromic oral clefts: A case-control studyThe objective of the study is to determine the association between nonsyndromic oral clefts (OC) in children and ABO, Rh blood groups, lip, and dermatoglyphic patterns of their unaffected parents.
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Language and literacy in the context of early life adversityThis chapter considers the role of different forms of psychosocial adversity as risk factors for compromised language and literacy development in childhood and adolescence. Language skills play a central role in the development of prosocial interpersonal skills as well as promoting academic success through the transition to literacy.
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A study protocol for a randomised controlled trial to evaluate the effectiveness of a dog-facilitated physical activity minimal intervention on young children's physical activity, health and development: the PLAYCE PAWS trialPet ownership brings many health benefits to individuals. In children developmental benefits can extend to improved self-esteem, better social competence and decreased loneliness. The majority of households with children own a dog, however only a small proportion of children gain the benefits of dog ownership through dog walking and play. There are few intervention studies investigating the impact of dog-facilitated physical activity in children. The PLAYCE PAWS study aims to test a minimal-contact intervention through the use of mobile health ("mhealth") strategies, i.e. text (SMS) messages, to parents to encourage their children to walk and play with their dog more, and evaluate the impact on children's overall physical activity and development.
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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international datasetCharacterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.
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Investigating Mitochondrial Transcriptomes and RNA Processing Using Circular RNA SequencingTranscriptomic technologies have revolutionized the study of gene expression and RNA biology. Different RNA sequencing methods enable the analyses of diverse species of transcripts, including their abundance, processing, stability, and other specific features. Mitochondrial transcriptomics has benefited from these technologies that have revealed the surprising complexity of its RNAs. Here we describe a method based upon cyclization of mitochondrial RNAs and next generation sequencing to analyze the steady-state levels and sizes of mitochondrial RNAs, their degradation products, as well as their processing intermediates by capturing both 5' and 3' ends of transcripts.
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Topical treatment of vulvodynia, dyspareunia and pudendal neuralgia: A single clinic audit of amitriptyline and oestriol in organogelVulvodynia and pudendal neuralgia comprise significant contributors to vulvar-related pain and its impact on daily life. A retrospective clinical audit was conducted at the Women's Health & Research Institute of Australia, Sydney, to determine the pattern of use and the efficacy of the application of topical amitriptyline 0.5% plus oestriol 0.03% in organogel (AOO), to the vulvar vestibule in reducing the impact of pain on daily life.