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Showing results for "Neuromuscular disorders "

Optimal interpregnancy interval in autism spectrum disorder: A multi-national study of a modifiable risk factor

It is biologically plausible that risk of autism spectrum disorder (ASD) is elevated by both short and long interpregnancy intervals (IPI). We conducted a retrospective cohort study of singleton, non-nulliparous live births.

Fidelity and coordination of mitochondrial protein synthesis in health and disease

The evolutionary acquisition of mitochondria has given rise to the diversity of eukaryotic life. Mitochondria have retained their ancestral α-proteobacterial traits through the maintenance of double membranes and their own circular genome. Their genome varies in size from very large in plants to the smallest in animals and their parasites. The mitochondrial genome encodes essential genes for protein synthesis and has to coordinate its expression with the nuclear genome from which it sources most of the proteins required for mitochondrial biogenesis and function.

Genetic association study of childhood aggression across raters, instruments, and age

Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap.

Mitochondrial mistranslation modulated by metabolic stress causes cardiovascular disease and reduced lifespan

Changes in the rate and fidelity of mitochondrial protein synthesis impact the metabolic and physiological roles of mitochondria. Here we explored how environmental stress in the form of a high-fat diet modulates mitochondrial translation and affects lifespan in mutant mice with error-prone or hyper-accurate mitochondrial ribosomes. Intriguingly, although both mutations are metabolically beneficial in reducing body weight, decreasing circulating insulin and increasing glucose tolerance during a high-fat diet, they manifest divergent (either deleterious or beneficial) outcomes in a tissue-specific manner.

The oral and written narrative language skills of adolescent students in youth detention and the impact of language disorder

Unmet language and literacy needs are common among young people who are involved with youth justice systems. However, there is limited research regarding the functional text-level language skills of this population with regard to narrative macrostructure (story grammar) and microstructure (semantics and syntax) elements. In this study, we examined macrostructure and microstructure elements in the oral and written narrative texts of 24 adolescent students of a youth detention centre. The students, who were aged 14- to 17- years, were all speakers of Standard Australian English, and 11 (46%) students met criteria for language disorder (LD).

Investigating Mitochondrial Transcriptomes and RNA Processing Using Circular RNA Sequencing

Transcriptomic technologies have revolutionized the study of gene expression and RNA biology. Different RNA sequencing methods enable the analyses of diverse species of transcripts, including their abundance, processing, stability, and other specific features. Mitochondrial transcriptomics has benefited from these technologies that have revealed the surprising complexity of its RNAs. Here we describe a method based upon cyclization of mitochondrial RNAs and next generation sequencing to analyze the steady-state levels and sizes of mitochondrial RNAs, their degradation products, as well as their processing intermediates by capturing both 5' and 3' ends of transcripts.

Long-term survival for infants born with orofacial clefts in Western Australia

Parents with a child diagnosed with an OFC ± additional minor anomalies only can be reassured that the OFC does not influence survival rates in infancy

Age at surgery and outcomes of an undescended testis

We investigated the prevalence of UDT and examined rates of surgery and age at surgery in an Australian population.

Childhood folate, B6, B12, and food group intake and the risk of childhood brain tumors: results from an Australian case–control study

In this case-control study of CBT, the possible associations of childhood intake of dietary and supplemental folate, vitamin B6, and vitamin B12 with the...