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Research

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing.

Research

Occupational therapy research has not fully utilized available research methods when exploring occupational therapists' views on specific interventions and service provision nor when exploring consumer priorities and the impact of occupational therapy services. Q methodology, a quantitative method for the systematic assessment of qualitative data, is an approach that can be used to examine viewpoints related to occupational therapy.

Research

Although pregnant smokers may perceive electronic cigarettes (e-cigarettes) as safe alternatives to smoking combustible cigarettes, few studies have evaluated perinatal e-cigarette use and its associated health effects. We analyzed data from the Pregnancy Risk Assessment Monitoring System (PRAMS, 2016-2018) for 16,022 women who recently gave birth and reported smoking combustible cigarettes prior to pregnancy.

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These data support that children are not just 'little adults' in the AMR era, and analyses by age group are important to detect differences in antibiotic susceptibility

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Benzathine penicillin G has been used as monthly deep intramuscular (IM) injections since the 1950s for secondary prevention of acute rheumatic fever and rheumatic heart disease (RHD). Injection frequency and pain are major programmatic barriers for adherence, prompting calls for development of better long-acting penicillin preparations to prevent RHD.

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Australian infants who received whole-cell pertussis vaccines were less likely to be diagnosed with food allergy in childhood

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Cancer cells display DNA hypermethylation at specific CpG islands in comparison to their normal healthy counterparts, but the mechanism that drives this so-called CpG island methylator phenotype (CIMP) remains poorly understood. Here, we show that CpG island methylation in human T-cell acute lymphoblastic leukemia (T-ALL) mainly occurs at promoters of Polycomb Repressor Complex 2 (PRC2) target genes that are not expressed in normal or malignant T-cells and which display a reciprocal association with H3K27me3 binding.

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A widespread G2P[4] rotavirus epidemic in rural and remote Australia provided an opportunity to evaluate the performance of Rotarix and RotaTeq rotavirus vaccines, ten years after their incorporation into Australia's National Immunisation Program.

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We aimed to evaluate the use of the EIMM-step method in a broad range of infants.

Research

This publication compares reaction profiles from food challenges and parent-reported reactions on accidental ingestion, and assess predictors of severe reactions.