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There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance.

Research

It is known that a previous preterm birth increases the risk of a subsequent preterm birth, but a limited number of studies have examined this beyond two consecutive pregnancies. This study aimed to assess the risk and patterns of (recurrent) preterm birth up to the fourth pregnancy.

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Diabetes in pregnancy (DIP), which includes pre-gestational and gestational diabetes, is more prevalent among Aboriginal women. DIP and its adverse neonatal outcomes are associated with diabetes and cardiovascular disease in the offspring.

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To describe the clinical epidemiology of children receiving cochlear implants, as well as the management and outcomes of cochlear implant infections and adherence to infection prevention measures.

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COVID-19 has had far-reaching impacts including changes in work, travel, social structures, education, and healthcare. This study aimed to explore the experiences of parents of children receiving treatment for cancer during the COVID-19 pandemic.

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Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.

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Recently, "Technical standards for respiratory oscillometry" was published, which reviewed the physiological basis of oscillometric measures and detailed the technical factors related to equipment and test performance, quality assurance and reporting of results. Here we present a review of the clinical significance and applications of oscillometry.

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Early childhood education and care (ECEC) services are a key setting to support improvements in the physical activity of young children. This umbrella review gathered and synthesised systematic review evidence of the effectiveness of interventions in the ECEC setting on the physical activity levels of children aged 0–6.

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Influenza immunisation is a highly cost-effective public health intervention. Despite a comprehensive National Immunisation Program, influenza vaccination in children and adolescents with special risk medical conditions (SRMCs) is suboptimal. Flutext-4U is an innovative, multi-component strategy targeting paediatric hospitals, general practice and parents of children and adolescents with SRMC.

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Reduced eye contact early in life may play a role in the developmental pathways that culminate in a diagnosis of autism spectrum disorder. However, there are contradictory theories regarding the neural mechanisms involved. According to the amygdala theory of autism, reduced eye contact results from a hypoactive amygdala that fails to flag eyes as salient. However, the eye avoidance hypothesis proposes the opposite-that amygdala hyperactivity causes eye avoidance. This review evaluated studies that measured the relationship between eye gaze and activity in the 'social brain' when viewing facial stimuli.