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Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet.
The aims of the present study were to (i) examine the relationship between children's degree of adiposity and psychosocial functioning; and (ii) compare patterns of clustering of psychosocial measures between healthy weight and overweight/obese children.
The goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.
To determine the potential longer-term effects of maternal antenatal respiratory syncytial virus (RSV) vaccination, we examined the association between cord-blood RSV-neutralizing antibodies (RSV-NA) and RSV infections in the first 2 years of life, RSV-NA at 3 years, and respiratory health to age 5 years.
Protracted bacterial bronchitis (PBB) is a leading cause of chronic wet cough in children. The current standard treatment in European and American guidelines is 2 weeks of antibiotics, but the optimal duration of therapy is unknown. We describe the first randomised controlled trial to assess the duration of antibiotic treatment in children with chronic wet cough and suspected PBB.
Dysbiosis refers to a reduction in microbial diversity, combined with a loss of beneficial taxa, and an increase in pathogenic microorganisms. Dysbiosis of the intestinal microbiota can have a substantial effect on the nervous and immune systems, contributing to the onset of several inflammatory diseases.
As malaria incidence decreases and more countries move towards elimination, maps of malaria risk in low-prevalence areas are increasingly needed. For low-burden areas, disaggregation regression models have been developed to estimate risk at high spatial resolution from routine surveillance reports aggregated by administrative unit polygons.
Research focused on Down syndrome has increased in the last several years to advance understanding of the consequences of trisomy 21 (T21) on molecular and cellular processes and, ultimately, on individuals with Down syndrome. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome.
We sought to investigate the association between food-outlet availability near Australian secondary schools and frequency of Australian students’ discretionary food purchases.
ParticiPAte CP is a participation-focused therapy intervention that is effective to increase perceived performance of physical activity participation goals in children with cerebral palsy. We aimed to characterise the contents of ParticiPAte CP using validated behaviour change frameworks.