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Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
Multiple lifestyle risk factors exhibit a stronger association with non-communicable diseases (NCDs) compared to a single factor, emphasizing the necessity of considering them collectively. By integrating these major lifestyle risk factors, we can identify individuals with an overall unhealthy lifestyle, which facilitates the provision of targeted interventions for those at significant risk of NCDs. The aim of this study was to evaluate the socio-demographic correlates of unhealthy lifestyles among adolescents and adults in Ethiopia.
Patients with cardiovascular disease benefit from cardiac rehabilitation, which includes structured exercise and physical activity as core components. This position statement provides pragmatic, evidence-based guidance for the assessment and prescription of exercise and physical activity for cardiac rehabilitation clinicians, recognising the latest international guidelines, scientific evidence and the increasing use of technology and virtual delivery methods.
It is extremely challenging to formulate age-appropriate flucloxacillin medicines for young children, because flucloxacillin sodium (FS) has a lingering, highly bitter taste, dissolves quickly in saliva, and requires multiple daily dosing at relatively large doses for treating skin infections. In this paper, we describe a promising taste-masked flucloxacillin ternary microparticle (FTM) formulation comprising FS, Eudragit EPO (EE), and palmitic acid.
This review paper explores the role of human taste panels and artificial neural networks (ANNs) in taste-masking paediatric drug formulations. Given the ethical, practical, and regulatory challenges of employing children, young adults (18-40) can serve as suitable substitutes due to the similarity in their taste sensitivity. Taste panellists need not be experts in sensory evaluation so long as a reference product is used during evaluation; however, they should be screened for bitterness taste detection thresholds.
Technology use, including continuous glucose monitoring (CGM) and insulin pump therapy, is associated with improved outcomes in youth with type 1 diabetes (T1D). In 2017 CGM was universally funded for youth with T1D in Australia. In contrast, pump access is primarily accessed through private health insurance, self-funding or philanthropy.
Tuberculosis (TB) remains a major cause of morbidity and mortality in the world, despite being a preventable and curable disease. The World Health OrganizationEnd-TB Strategy, aligned with the Sustainable Development Goals, sets a target of reducing the TB mortality rate by 95%, TB incidence rate by 90%, and catastrophic costs due to TB by 2035, compared with a 2015 level. To achieve these ambitious targets, several interventions have been implemented in the last few years, resulting in major progress toward reducing the burden of TB.
Tuberculosis (TB) is the leading infectious cause of death globally. Several preventive measures are employed to prevent TB, yet there is a paucity of evidence on the effectiveness of these interventions. Therefore, this study aimed to identify the most effective interventions for reducing TB incidence.
Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis.
Research in psychopharmacology in children and adolescents is an area of growing interest with numerous newer modalities becoming available in recent years. Nevertheless, it still lags significantly behind research in adult psychopharmacology although, in the last decade, the gap is beginning to be bridged with FDA approval for newer agents for the paediatric age group.