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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeIn 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.
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Getting to the heart of the matter: a research partnership with Aboriginal women in South and Central AustraliaWithin the vast majority of qualitative health research involving Indigenous populations, Indigenous people have been marginalised from research conceptualisation and conduct. This reflects a lack of regard for Indigenous ways of knowing, being, and doing, has served to perpetuate deficit narratives of Indigenous peoples’ health and wellbeing, and contributes to failure in addressing inequities as a result of ongoing colonisation and institutionalised oppression and racism.
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The effects of birth spacing on early childhood development in high-income nations: A systematic reviewThis study aimed to systematically review the literature on the associations between birth spacing and developmental outcomes in early childhood (3–10 years of age). Studies examining the associations between interpregnancy intervals and child development outcomes during and beyond the perinatal period have not been systematically reviewed.
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Rare disease education in Europe and beyond: time to actPeople living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient.
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Perceptions of two different alcohol use behaviours in pregnancy: an application of the prototype/willingness modelThis study explored whether exposure to either an ‘ambiguous consumption’ prototype (no amount of alcohol specified) or a ‘small consumption’ prototype (‘small’ amount of alcohol specified) had an impact on prototype perceptions of, and willingness to use, small amounts of alcohol during pregnancy.
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The inequitable burden of infectious diseases among remote-living Aboriginal and Torres Strait Islander Australians: a product of historyAlthough Streptococcus pyogenes (Strep A) is the sixth-most common infectious disease globally, its transmission within the household remains an understudied driver of infection. We undertook a systematic review to better understand the transmission of Strep A among people within the home, while highlighting opportunities for prevention.
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Skin health of urban-living Aboriginal children attending a primary care Aboriginal Community Controlled Health Organisation clinicDespite increasing urbanisation, little is known about skin health for urban-living Aboriginal children and young people (CYP, aged <18 years). This study aimed to investigate the primary care burden and clinical characteristics of skin conditions in this cohort.
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Perturbation of the T Cell Compartment Underlies Rheumatic Fever PathogenesisThis prospective cohort study, which recruited participants with definite ARF in Australia and Aotearoa New Zealand, profiled circulating immune molecules and cells to inform disease mechanisms and future druggable pathways.
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“Stop, pause and take a break”: a mixed methods study of the longer-term outcomes of digital emotional wellbeing training for perinatal womenMaternal psychological distress is related to poorer physical and mental health as well as child developmental problems. Interventions that optimise maternal mental health and wellbeing during the "first 1,000 days" of life should have wide-reaching benefits for the mother and her child.
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Indigenous Australian perspectives on the perinatal period: Social well-being, culture and early infant attachmentsAlthough social factors and culture are significant determinants of health in Aboriginal and Torres Strait Islander peoples, little is known academically about key interpersonal and social experiences of this population during the perinatal period, or how early attachments are formed through culture. This study addressed this gap in the literature.