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Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case studyThere 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.
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Eye Gaze in Autism Spectrum Disorder: A Review of Neural Evidence for the Eye Avoidance HypothesisReduced 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.
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Association between preschooler movement behaviours, family dog ownership, dog play and dog walking: Findings from the PLAYCE studyPhysical inactivity in childhood is a major public health issue. Dog ownership has been widely reported to lead to greater physical activity in adults and school-aged children. We examined if dog ownership and dog-facilitated physical activity were associated with higher physical activity in preschoolers. Secondary analysis of the 'Play Spaces & Environments for Children's Physical Activity' (PLAYCE, 2015-2018) study involving 1366, 2-5-year-olds from 122 long day-care centres in Perth, Australia was conducted.
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Correlates of Help-Seeking Behaviour in Adolescents Who Experience Bullying VictimisationA commonly suggested strategy for addressing bullying is for victims to seek help from a trusted person. Despite this recommendation, there are a group of adolescent victims who choose not to seek help. This study aimed to identify factors associated with not seeking help among adolescents who experienced bullying victimisation.
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B Part of It School Leaver Study: A Repeat Cross-Sectional Study to Assess the Impact of Increasing Coverage With Meningococcal B (4CMenB) Vaccine on Carriage of Neisseria meningitidisRecombinant protein-based vaccines targeting serogroup B meningococci protect against invasive disease but impacts on carriage are uncertain. This study assessed carriage prevalence of disease-associated meningococci in 2018-2020 as the proportion of vaccinated adolescents increased following introduction of a school-based 4CMenB immunization program.
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The relationship between intrauterine foetal growth trajectories and blood pressure in young adultsPrevious studies have reported an association between low birthweight and elevated blood pressure (BP) in adulthood, but few have examined the relationship between foetal growth and adult BP.
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Outcomes in extremely low birth weight (≤500 g) preterm infants: A Western Australian experienceExtremely preterm infant survival has significantly improved with advanced neonatal care; however outcomes of infants born with birth weight ≤500 g remain poor. We aimed to review outcomes of this cohort in our Institution.
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Vitamin D deficiency at 16 to 20 weeks' gestation is associated with impaired lung function and asthma at 6 years of ageThis paper examines whether a Vitamin D deficiency during pregnancy affects the child's lung function predisposition towards lung disease such as asthma.
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Changes in risk factors for preterm birth in Western Australia 1984-2006Marked increases in maternal age and primiparous births were observed. A four-fold increase in the rates of pre-existing medical complications over time...
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Morbidity in survivors of child and adolescent meningiomaGiven the paucity of data concerning long-term outcome, the authors undertook a meta-analysis to analyze morbidity in survivors of this disease.