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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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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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Cancer therapies inducing DNA damageThe induction of DNA damage has been employed as an anticancer strategy for more than 100years, first starting with the use of radiation to treat stomach cancer followed by the first uses of DNA-damaging chemotherapy to treat childhood leukemia.
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A Review of Cardiac Surgical Procedures and Their Outcomes for Paediatric Rheumatic Heart Disease in Western AustraliaSurgical intervention is an important treatment modality for advanced rheumatic heart disease (RHD). This study aimed to describe patient characteristics and outcomes from cardiac surgery for RHD in patients referred to the only tertiary paediatric hospital in Western Australia.
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Modeling COVID-19 disease processes by remote elicitation of causal Bayesian networks from medical expertsCOVID-19 is a new multi-organ disease causing considerable worldwide morbidity and mortality. While many recognized pathophysiological mechanisms are involved, their exact causal relationships remain opaque. Better understanding is needed for predicting their progression, targeting therapeutic approaches, and improving patient outcomes. While many mathematical causal models describe COVID-19 epidemiology, none have described its pathophysiology.
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A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancerMolecular profiling of the tumour immune microenvironment (TIME) has enabled the rational choice of immunotherapies in some adult cancers. In contrast, the TIME of paediatric cancers is relatively unexplored. We speculated that a more refined appreciation of the TIME in childhood cancers, rather than a reliance on commonly used biomarkers such as tumour mutation burden (TMB), neoantigen load and PD-L1 expression, is an essential prerequisite for improved immunotherapies in childhood solid cancers.
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Normal values of respiratory oscillometry in South African children and adolescentsNoninvasive measurement of respiratory impedance by oscillometry can be used in young children aged from 3 years and those unable to perform forced respiratory manoeuvres. It can discriminate between healthy children and those with respiratory disease. However, its clinical application is limited by the lack of reference data for African paediatric populations. The aim of the present study was to develop reference equations for oscillometry outcomes in South African children and adolescents.
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Experiences and Attitudes of Parents Reducing Carbohydrate Intake in the Management of Their Child’s Type 1 Diabetes: A Qualitative StudyReducing carbohydrate (CHO) intake is being used as an approach to manage type 1 diabetes (T1D) in children. This study aimed to investigate the experiences and attitudes of parents of children with T1D who are reducing CHO intake to help manage blood glucose levels.
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Public stigma toward prolonged grief and COVID-19 bereavement: A vignette-based experimentWe investigated the effects of cause of death and the presence of prolonged grief disorder on eliciting public stigma toward the bereaved.
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An archetypes approach to malaria intervention impact mapping: a new framework and example applicationAs both mechanistic and geospatial malaria modeling methods become more integrated into malaria policy decisions, there is increasing demand for strategies that combine these two methods. This paper introduces a novel archetypes-based methodology for generating high-resolution intervention impact maps based on mechanistic model simulations. An example configuration of the framework is described and explored.