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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic 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.
Research
Disruption of cotranscriptional splicing suggests that RBM39 is a therapeutic target in acute lymphoblastic leukemiaThere are few options for patients with relapse/refractory B-cell acute lymphoblastic leukemia, thus this is a major area of unmet medical need. Here, we reveal that inclusion of a poison exon in RBM39, which could be induced both by CDK9 or CDK9 independent CMGC (cyclin-dependent kinases, mitogen-activated protein kinases, glycogen synthase kinases, CDC-like kinases) kinase inhibition, is recognized by the nonsense-mediated mRNA decay pathway for degradation.
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Exploring Sugary Drink Consumption and Perceptions among Primary-School-Aged Children and Parents in AustraliaSugar-sweetened beverages (SSBs) account for a significant proportion of sugar in the diet of children and are directly associated with obesity in this group. While there have been many studies on adolescent SSB consumption, few studies have examined the predictors of SSB consumption in primary-school-aged children. The aim of this study was to understand the degree to which a child's consumption across a range of beverages is influenced by their own attitudes and by their parents' attitudes and parents' consumption behaviours.
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Mesothelioma survival prediction based on a six-gene transcriptomic signatureMesothelioma is a lethal cancer. Despite promising outcomes associated with immunotherapy, durable responses remain restricted to a minority of patients, highlighting the need for improved strategies that better predict outcome. Here, we described the development of a mesothelioma-specific gene signature that accurately predicts survival.
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Transcriptional rewiring in CD8+ T cells: implications for CAR-T cell therapy against solid tumoursT cells engineered to express chimeric-antigen receptors (CAR-T cells) can effectively control relapsed and refractory haematological malignancies in the clinic. However, the successes of CAR-T cell therapy have not been recapitulated in solid tumours due to a range of barriers such as immunosuppression, poor infiltration, and tumour heterogeneity.
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Effect of a campaign with oral polio vaccine on general health: A cluster-randomised trial in rural Guinea-BissauObjectives: To investigate in a cluster-randomised trial whether a campaign with oral polio vaccine (C-OPV) reduced mortality and morbidity.
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Towards precision cancer medicine for Aboriginal and Torres Strait Islander cancer health equityDelivering cancer control at scale for Aboriginal and Torres Strait Islander communities is a national priority that requires Aboriginal and Torres Strait Islander leadership and codesign, as well as significant involvement of the Aboriginal community-controlled health sector. The unique genomic variation observed among Aboriginal and Torres Strait Islander peoples may have implications for standard and precision medicine.
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Behavior Change Techniques Involved in Physical Activity Interventions for Children with Chronic Conditions: A Systematic ReviewBehavior change techniques (BCTs) have been extensively used in physical activity interventions for children, however, no systematic reviews have synthesized their effects.
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Effect of different lung recruitment strategies and airway device on oscillatory mechanics in children under general anaesthesiaAtelectasis has been reported in 68 to 100% of children undergoing general anaesthesia, a phenomenon that persists into the recovery period. Children receiving recruitment manoeuvres have less atelectasis and fewer episodes of oxygen desaturation during emergence. The optimal type of recruitment manoeuvre is unclear and may be influenced by the airway device chosen.
Research
Improving screening in a paediatric cohort for cystic fibrosis-related diabetes: A quality improvement projectAndré Schultz MBChB, PhD, FRACP Head, BREATH Team Head, BREATH Team Prof André Schultz is the Head, BREATH Team at The Kids Research Institute