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Differential allelic representation (DAR) identifies candidate eQTLs and improves transcriptome analysisIn comparisons between mutant and wild-type genotypes, transcriptome analysis can reveal the direct impacts of a mutation, together with the homeostatic responses of the biological system. Recent studies have highlighted that, when the effects of homozygosity for recessive mutations are studied in non-isogenic backgrounds, genes located proximal to the mutation on the same chromosome often appear over-represented among those genes identified as differentially expressed.
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Specificity of the Modified Jones CriteriaJonathan Carapetis AM AM MBBS FRACP FAFPHM PhD FAHMS Executive Director; Co-Head, Strep A Translation; Co-Founder of REACH 08 6319 1000 contact@
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Experiences of parents of trans young people accessing Australian health services for their child: Findings from Trans PathwaysMany trans young people seek mental health support and gender-affirming medical interventions including puberty suppression, gender-affirming hormones and/or surgeries. Trans young people and their parents face multiple barriers in accessing gender-affirming care and mental health support, however little is known about the parent perspective on accessing services for their trans child.
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Participant and caregiver perspectives on health feedback from a healthy lifestyle checkThe usual output following health consultations from paediatric services is a clinical letter to the referring professional or primary care provider, with a copy sent to the patient's caregiver. There is little research on how patients and caregivers perceive the letter content.
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The valence-specific empathy imbalance hypothesis of autism: The role of autistic traits, alexithymia, emotion dysregulation, and gender differencesIndividuals exhibiting pronounced autistic traits (e.g., social differences and specialised interests) may struggle with cognitive empathy (i.e., the ability to infer others' emotions), although the relationship with affective empathy (i.e., the ability to share others' emotions) is less clear in that higher levels of autistic traits may be linked with increased affective empathy for negative emotions but reduced affective empathy for positive emotions. The current study investigates this empathy profile and whether alexithymia and emotion dysregulation help to explain it.
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Excess Deaths Associated with Rheumatic Heart Disease, Australia, 2013-2017During 2013–2017, the mortality rate ratio for rheumatic heart disease among Indigenous versus non-Indigenous persons in Australia was 15.9, reflecting health inequity. Using excess mortality methods, we found that deaths associated with rheumatic heart disease among Indigenous Australians were probably substantially undercounted, affecting accuracy of calculations based solely on Australian Bureau of Statistics data.
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World Society for Pediatric Infectious Diseases calls for action to ensure fair prices for vaccinesThe eradication of smallpox is considered one of the greatest achievements of humankind, thanks to vaccination. The widespread availability of childhood vaccines has substantially reduced childhood morbidity and mortality. Devastating infections, such as polio, have almost disappeared due to vaccination. In 2021, it was estimated that vaccination against ten selected pathogens will have averted 69 million deaths between 2000 and 2030. Increases in vaccine coverage and introduction of additional vaccines should reduce lifetime mortality by 72% in the 2019 birth cohort. However, access to vaccines that prevent life-threatening and disabling infectious diseases remains unequal.
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Maternal diet during breastfeeding: Could it influence food allergy risk in children?Human milk is rich in immuno-modulatory factors that have the potential to shape immune development and influence allergy risk in children. In this article, we describe how breast milk may contribute to making the infant less prone to developing allergies.
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The moral domain in peer relationships: opportunities for interventions to prevent bullyingPrevious research has focused on identifying the association between moral dimension and bullying behavior, with an emphasis on better understanding the complex processes that children and adolescents trigger during decision-making in immoral situations. However, advances in research on morality and bullying have not been paralleled by the design of intervention programs that promote moral competence. The aim of this chapter is to analyze the moral dimension as a key intervention in the design of holistic models for preventing bullying and promoting defending.
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Future-proofing genomic data and consent management: a comprehensive review of technology innovationsGenomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases.