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Research
QuantSeq. 3′ Sequencing combined with Salmon provides a fast, reliable approach for high throughput RNA expression analysisQuantSeq, coupled with a fast quantification method such as Salmon, should provide a viable alternative to traditional RNA-Seq in many applications
Research
PTPN2 phosphatase deletion in T cells promotes anti-tumour immunity and CAR T-cell efficacy in solid tumoursOur findings define PTPN2 as a target for bolstering T-cell-mediated anti-tumour immunity and CAR T-cell therapy against solid tumours.
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Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial diseaseWe report for the first time that a common stress condition, such as viral infection, can exacerbate mitochondrial dysfunction in a genetic model of mitochondrial disease
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Genome mining and characterisation of a novel transaminase with remote stereoselectivityHere we report a novel ω-transaminase discovered in a marine sponge Pseudovibrio sp. isolate
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The effect of functioning on Quality of Life Inventory-Disability measured quality of life is not mediated or moderated by parental psychological distressThe measurement of quality of life (QOL) in children with intellectual disability often relies upon proxy report via caregivers. The current study investigated whether caregiver psychological distress mediates or moderates the effects of impairment on their ratings of QOL in children with intellectual disability.
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Meningococcal serotype W septic arthritis: Case series in childrenThe epidemiology of invasive meningococcal disease has changed over the last decade and there has been an increase in cases caused by serogroup W135, particularly in Indigenous children. Extra‐meningeal and atypical presentations are associated with serogroup W and may delay diagnosis and therefore appropriate treatment. Public and clinician awareness are essential in facilitating effective new vaccine schedule implementation.
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Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.
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Implementing telehealth support to increase physical activity in girls and women with Rett syndrome-ActivRett: protocol for a waitlist randomised controlled trialIndividuals with Rett syndrome (RTT) experience impaired gross motor skills, limiting their capacity to engage in physical activities and participation in activities. There is limited evidence of the effectiveness of supported physical activity interventions. This study aims to evaluate the effects of a telehealth-delivered physical activity programme on physical activity, sedentary behaviour and quality of life in RTT.
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Assessment of different techniques for the administration of inhaled salbutamol in children breathing spontaneously via tracheal tubes, supraglottic airway devices, andPerioperative respiratory adverse events account for a third of all perioperative cardiac arrests, with bronchospasm and laryngospasm being most common. Standard treatment for bronchospasm is administration of inhaled salbutamol, via pressurized metered dose inhaler. There is little evidence on the best method of attaching the pressurized metered dose inhaler to the artificial airway during general anesthesia. The aim of this study is to investigate the best method to deliver aerosolized salbutamol via pressurized metered dose inhaler to the lungs of an anesthetized child.
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Effectiveness, Acceptability, and Feasibility of Digital Health Interventions for LGBTIQ+ Young People: Systematic ReviewYoung people (aged 12-25 years) with diverse sexuality, gender, or bodily characteristics, such as those who identify as lesbian, gay, bisexual, transgender, intersex, or queer (LGBTIQ+), are at substantially greater risk of a range of mental, physical, and sexual health difficulties compared with their peers. Digital health interventions have been identified as a potential way to reduce these health disparities.