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TANGO2 binds crystallin alpha B and its loss causes desminopathy

Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. 

Determining the Mental Wellbeing of Family Day Care Educators in Australia

Family Day Care (FDC) is an essential service supporting Australian families requiring convenient, versatile, and quality education and care for their children. FDC educators’ mental wellbeing (MWB), often overlooked, is vital to ensure optimal education and care. This study aimed to gauge Australian FDC educators’ MWB and identify factors positively or negatively affecting MWB.

Nationwide spatial dynamics of taeniasis in Thailand: declining prevalence but shifting focus and One Health risk factors across 2008–2014

The prevalence of taeniasis in Thailand has decreased over the past six decades. However, it remains a public health concern, particularly in focal areas, especially along the border regions where migration between Thailand and neighboring endemic countries is frequent. Spatial distribution analysis provides a useful method for identifying high-risk areas and implementing targeted integrated control measures. This study aimed to examine the spatial patterns of taeniasis in 2008 and 2014, along with their associated One Health risk factors at the sub-district level.

Deciphering IGH rearrangement complexity and detection strategies in acute lymphoblastic leukaemia

Acute lymphoblastic leukaemia is a highly heterogeneous malignancy characterised by various genomic alterations that influence disease progression and therapeutic outcomes. Gene fusions involving the immunoglobulin heavy chain gene represent a complex and diverse category.

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.

Research priorities for preterm lung health research across the lifespan: a community priority setting partnership

It is essential to embed patient and public perspectives into every stage of the research journey, including setting the future research agenda. The substantial gaps in our understanding of prematurity-associated lung disease presented a timely opportunity to determine the community's research priorities.

Conversion or Reversion of Interferon γ Release Assays for Mycobacterium tuberculosis Infection: A Systematic Review and Meta-analysis

Interferon γ release assays (IGRAs) are widely used for diagnosis of latent tuberculosis infection. However, with repeated testing, IGRA transformation (conversion or reversion) may be detected and is challenging to interpret. We reviewed the frequency of and risk factors for IGRA transformation.

An anti-junk food ad from a sports commercial break reduced junk food consumption inclinations, yet junk food ads had minimal to no impact

In Australia, there are concerns that unrestricted junk food advertising during sports broadcasts increases short-term junk food consumption among viewers. Therefore, the present study aimed to estimate the impact of junk food and anti-junk food advertising on consumption inclinations.

Safety, tolerability and pharmacokinetics of subcutaneous meropenem as an alternative to intravenous administration

Subcutaneous delivery of antibiotics is a practical alternative to IV administration. Meropenem is commonly used to treat infections caused by resistant Gram-negative organisms.

Jet versus vibrating mesh nebulizer for tobramycin aerosol in spontaneously breathing children with tracheostomies: A simulation study

Tracheostomy tubes act as foreign bodies, predisposing the surrounding airway to respiratory infections. Initial treatment for infections is topical - nebulized tobramycin - although guidelines for standardized treatment are lacking.