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Detecting genotyping error using measures of degree of Hardy-Weinberg disequilibrium - art. no. 5Tests for Hardy-Weinberg equilibrium (HWE) have been used to detect genotyping error, but those tests have low power unless the sample size is very large.
Research
A Scoping Review of Methodologies Exploring Diet and Health Outcomes in Lactating Women: What Has Been Done and Where to Next?Developing dietary guidelines for lactating women presents significant challenges, due to limited evidence being available on their specific nutrient needs and the biological impacts of various dietary dimensions. Current dietary recommendations often rely on data from nonlactating women, leading to potential inaccuracies.
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A microRNA-based dynamic risk score for type 1 diabetesIdentifying individuals at high risk of type 1 diabetes (T1D) is crucial as disease-delaying medications are available. Here we report a microRNA (miRNA)-based dynamic (responsive to the environment) risk score developed using multicenter, multiethnic and multicountry ('multicontext') cohorts for T1D risk stratification. Discovery (wet and dry lab) analysis identified 50 miRNAs associated with functional β cell loss, which is a hallmark of T1D.
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Reduced Type-I Interferon by Plasmacytoid Dendritic Cells and Asthma in School-Aged ChildrenAllergic sensitization and reduced ability to respond to viral infections may contribute to virus-induced wheeze and asthma development in young children. Plasmacytoid dendritic cells (pDC) are rare immune cells that produce type I interferons (IFN-I) and play a key role in orchestrating immune responses against viruses.
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Exploring healthcare providers’ perspectives on the factors that facilitate primary health care access among Aboriginal and Torres Strait Islander young peopleAboriginal and Torres Strait Islander young people aged 15-24 years of age often encounter challenges accessing and utilising primary health care (PHC). Providing health care responsive to the needs of Aboriginal and Torres Strait Islander young people requires the active involvement of healthcare providers (HCPs), who play a central role in healthcare delivery. This study explored perspectives of HCPs working in urban Aboriginal and Torres Strait Islander Community-Controlled Health Organisations (ATSICCHOs) on the factors that facilitate Aboriginal and Torres Strait young people accessing and utilising PHC services.
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Involving young people with lived experience in advancing mental health science: an exploratory qualitative study from Pakistan and IndiaMeaningful involvement of young People with Lived Experience (PWLE) in co-designing youth mental health interventions has been much emphasized globally. However, there is a scarcity of evidence on involving PWLE of mental health problems in designing, implementing and evaluating mental health interventions, especially in Low- and Middle-Income Countries.
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Twenty-five is not a neurobiologically determined age of maturity for gender-affirming medical decision-makingAmong the increasing threats to the healthcare of transgender and gender-diverse people globally, are efforts to deny gender-affirming medical care to people under age 25 typically justified by stating that the human brain is not developed until the mid-to-late 20's. Thus, this line of reasoning states young adults are not sufficiently mature to be responsible for autonomous healthcare decision-making— at least in regard to gender-affirming care.
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‘People don't trust those pieces of paper that are provided’: A qualitative study of cultural planning and outsourced out-of-home care services in Western AustraliaAboriginal and Torres Strait Islander children continue to be removed at high rates from their families by child protection services, placing them at elevated risk of adverse long-term life outcomes. Cultural connection in out-of-home care is essential for mitigating the impacts of trauma from removal, emphasizing the importance of ensuring that cultural planning is rigorously undertaken. This article explores the provision of cultural plans in an era where out-of-home care services are outsourced by government, but where government holds onto the responsibility for developing cultural plans for children in care.
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Atopy-related immune profiles are subject to genetic influence as evaluated using school-aged twin pairsThe interaction of genetic and environmental contributions to immunological traits and their association with atopic disease remain unclear. Flow cytometry and in vitro cytokine responses were used to characterize immune profiles from 93 school-aged twin pairs. Using an established twin pair analytical strategy, the genetic and environmental influences on immunological traits were evaluated, along with their association with atopy. Our findings suggest strong genetic influence on several traits, particularly B cell abundance. In contrast, cytokine responses from in vitro stimulations appeared mainly shaped by environmental exposures.
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MetaNeb Versus Usual Care During Exacerbations of Cystic Fibrosis: An RCTDuring exacerbations, when symptom and treatment burden are increased, individuals with cystic fibrosis (CF) are likely to prefer airway clearance techniques (ACTs) that require minimal effort. Therefore, in adults with CF who were hospitalised with an exacerbation, we sought to compare the effect of the MetaNeb with usual ACTs on respiratory function and expectorated sputum.