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Research

Mitochondrial damage in muscle specific PolG mutant mice activates the integrated stress response and disrupts the mitochondrial folate cycle

During mitochondrial damage, information is relayed between the mitochondria and nucleus to coordinate precise responses to preserve cellular health. One such pathway is the mitochondrial integrated stress response (mtISR), which is known to be activated by mitochondrial DNA (mtDNA) damage. However, the causal molecular signals responsible for activation of the mtISR remain mostly unknown.

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Effect of integrating traditional and modern healthcare systems on tuberculosis case detection in Ethiopia: a cluster randomized controlled study

Low tuberculosis (TB) case detection remains a major challenge in achieving the End TB targets. New strategies that consider local contexts are needed in countries with high TB burdens like Ethiopia. This study examined the effect of integrating traditional and modern TB care to increase the TB case detection rate.

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Considerations for Causal Inference Studies

Rachel Foong BSc (hons), PhD, MBiostat Honorary Research Associate 08 6319 1626 Rachel.Foong@thekids.org.au Senior Research Fellow Dr Foong is an

Research

Researchers’ self-reported adherence to ethical principles in Aboriginal and Torres Strait Islander health and medical research and views on improving conduct: a mixed methods study

To examine researchers' reports of adherence to ethical principles in their most recent research project, including factors associated with higher self-reported adherence, and perceptions of how research conduct could be improved. 

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Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent Perspectives

Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.

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Realising the potential impact of artificial intelligence for rare diseases – A framework

Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global population, or approximately 262.9–446.2 million people. The substantial healthcare burden and costs, such as the $1 trillion annual expense in the USA, highlight the urgent need for improved RD management. The International Rare Diseases Research Consortium (IRDiRC) addresses this need through global collaboration, aiming for timely and accurate diagnosis, development of 1000 new therapies, and methodologies to measure impact by 2027.

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Effect of methylphenidate exposure on glutamate and glutamate-related metabolites in patients with ADHD: a systematic review

Dysfunctional glutamatergic neurotransmission has been implicated in the underlying pathogenesis of Attention Deficit Hyperactivity Disorder (ADHD). The psychostimulant methylphenidate (MPH), which is used as a first line treatment for ADHD, has been shown to have both acute and chronic effects on prefrontal cortex glutamatergic afferents. Animal studies have also identified an effect of MPH and glutamate in prefrontal areas. Despite this there are ongoing questions as to the extent and direction of this effect, as well as its impact on other neurobiological processes. 

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The Use of Alcohol Pharmacotherapies and Prescription Contraceptives among Females of Reproductive Age in Australia

There is no clear clinical guidance on the use of alcohol pharmacotherapies in pregnancy due to insufficient safety information. Contraception should therefore be considered for reproductive-aged females receiving alcohol pharmacotherapies not wishing to become pregnant. This study evaluated the concurrent use of alcohol pharmacotherapies with prescription contraception and other medications in Australian females of reproductive age compared to those not receiving an alcohol pharmacotherapy.

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The human milk microbiome is minimally associated with breastfeeding practices

The human milk microbiome is dominated by typical oral and skin bacteria, suggesting that bacterial communities from the infant mouth and maternal skin contribute to the development of the human milk microbiome. It is postulated that breastfeeding characteristics, such as breastfeeding frequency and duration, could lead to different levels of exposure to oral and skin bacteria, and subsequently, altered bacterial profiles in human milk.  

Research

Tumor site-directed A1R expression enhances CAR T cell function and improves efficacy against solid tumors

Citation: Sek K, Chen AXY, Cole T, Armitage JD, Tong J, ……… Waithman J, Parish IA, et al. Tumor site-directed A1R expression enhances CAR T cell