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Showing results for "Neuromuscular disorders "

Involving young people with lived experience in advancing mental health science: an exploratory qualitative study from Pakistan and India

Meaningful 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.

Guidelines, reports and books

We have recently developed recommendations to support clinical practice for gastro-intestinal disorders including growth and scoliosis in Rett syndrome.

Transition to parenting

Pregnancy marks the transition from childlessness to parenthood, and provides an opportunity for parents-to-be to prepare, research and reflect.

The Vsr-like protein FASTKD4 regulates the stability and polyadenylation of the MT-ND3 mRNA

Expression of the compact mitochondrial genome is regulated by nuclear encoded, mitochondrially localized RNA-binding proteins (RBPs). RBPs regulate the lifecycles of mitochondrial RNAs from transcription to degradation by mediating RNA processing, maturation, stability and translation. The Fas-activated serine/threonine kinase (FASTK) family of RBPs has been shown to regulate and fine-tune discrete aspects of mitochondrial gene expression.

Don't Get Lost in Translation: Integrating Developmental and Implementation Sciences to Accelerate Real-World Impact on Children's Development, Health, and Wellbeing

Translation of developmental science discoveries is impeded by numerous barriers at different stages of the research-to-practice pipeline. Actualization of the vast potential of the developmental sciences to improve children's health and development in the real world is imperative but has not yet been fully realized.

Quantifying the effectiveness of betaherpesvirus-vectored transmissible vaccines

Transmissible vaccines have the potential to revolutionize how zoonotic pathogens are controlled within wildlife reservoirs. A key challenge that must be overcome is identifying viral vectors that can rapidly spread immunity through a reservoir population.

The orofacial, oromotor, speech, and voice characteristics of adolescents in youth detention: a comparison of groups with and without prenatal alcohol exposure

Language disorder is highly prevalent in youth justice; however, orofacial, oromotor, speech, and voice anomalies have been largely overlooked. There has been some documentation of these among individuals with prenatal alcohol exposure (PAE), and adolescents with PAE are over-represented in youth justice.

A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistance

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.

Sun-health behaviours and attitudes towards sun safety amongst Australian teenagers: a qualitative update

This study aimed to explore current attitudes towards sun protection, and sun-seeking behaviour among young Australian adolescents. It was done as part of a larger project aiming to develop a digital resource to support young people in making informed sun-health decisions.

Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society

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.