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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusIn about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
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Network using Michaelis–Menten kinetics: constructing an algorithm to find target genes from expression dataWe derived a simple ordinary differential equation-based model using Michaelis–Menten Kinetics to process the microarray data
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Process evaluation of a randomised controlled trial intervention designed to improve rehabilitation services for Aboriginal Australians after brain injury: the Healing Right Way TrialHealing Right Way (HRW) aimed to improve health outcomes for Aboriginal Australians with stroke or traumatic brain injury by facilitating system-level access to culturally secure rehabilitation services. Using a stepped-wedge randomised controlled trial design, a two-pronged intervention was introduced in four rural and four urban hospitals, comprising cultural security training for staff and training/employment of Aboriginal Brain Injury Coordinators to support Aboriginal patients for 6-months post-injury.
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Improving compliance with swallowing exercise to decrease radiotherapy-related dysphagia in patients with head and neck cancerDysphagia, one of the most common complications in head and neck cancer (HNC) treated with radiotherapy, can severely affect patients’ quality of life. Currently, because no “gold standard” treatment exists, swallowing exercise remains the main rehabilitation strategy for dysphagia. However, patients’ compliance with long-term swallowing exercise is only 40%, thus, greatly compromising outcomes. This article aims to analyze thefactors influencing swallowing exercise compliance in patients with HNC and explains strategies developed to date for improved rehabilitation outcomes.
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Physical activity estimated by osteogenic potential and energy expenditure has differing associations with bone mass in young adults: The Raine studyGround impacts during physical activity may be important for peak bone mass. We found differences in how energy expenditure and impact scores estimated from a physical activity questionnaire related to bone health in young adults. Using both estimate types can improve our understanding of the skeletal benefits of physical activity. Purpose: It is unclear whether mechanical loading during physical activity, estimated from physical activity questionnaires which assess metabolic equivalents of task (METs), is associated with skeletal health.
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The AEDI: From Research to PolicyHere we summarise some recent research using the AEDI data and show how the Fraser Mustard Centre is using such research to help inform policy-makers.
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Micronutrient intakes from food and supplements in Australian adolescentsWe assessed micronutrient intakes in adolescents to determine whether supplement use optimises intakes.
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Research
Respiratory syncytial virus prevention within reach: the vaccine and monoclonal antibody landscapeRespiratory syncytial virus is the second most common cause of infant mortality and a major cause of morbidity and mortality in older adults (aged >60 years). Efforts to develop a respiratory syncytial virus vaccine or immunoprophylaxis remain highly active.
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From Beneath the Skin to the Airway Wall: Understanding the Pathological Role of Adipose Tissue in Comorbid Asthma-ObesityThis article provides a contemporary report on the role of adipose tissue in respiratory dysfunction. Adipose tissue is distributed throughout the body, accumulating beneath the skin (subcutaneous), around organs (visceral), and importantly in the context of respiratory disease, has recently been shown to accumulate within the airway wall: "airway-associated adipose tissue." Excessive adipose tissue deposition compromises respiratory function and increases the severity of diseases such as asthma.