Search
The transport and Golgi organization 2 (TANGO2) gene has been identified to cause a rare recessive genetic disorder known as TANGO2-deficiency disorder (TDD). TDD is a multi-systemic disorder that can affect different organs including the brain, heart, and muscles, presenting as recurrent metabolic crises, muscle weakness, and neurological symptoms including developmental delay and seizures.
Citation: Arishi AA, Holland DC, Bracegirdle J, …… Garratt LW, Mantjani L, Moggach SA, et al. Genome-Guided Discovery and Heterologous Biosynthesis
This study aimed to identify guiding principles to underpin assessment and diagnosis of autism to improve the quality, consistency and accuracy of services provided to individuals and their families. An online survey and focus groups were used to capture community perspectives of members of the Australian autistic and autism communities.
Life-threatening invasive infections caused by Streptococcus pyogenes and Streptococcus dysgalactiae subsp. equisimilis (SDSE) are unpredictable, frequently fatal, and are increasing in incidence globally. In the absence of evidence from randomized controlled trials (RCTs), clinical management for these conditions varies. Understanding current management approaches and areas of clinical equipoise will inform planning of feasible high-impact RCTs.
High nasopharyngeal pneumococcal carriage density is associated with severe pneumonia; however, little is known about factors that affect pneumococcal carriage density including pneumococcal vaccination. We describe pneumococcal density by clinical and demographic factors, and effect of 13-valent pneumococcal conjugate vaccine (PCV13) on density in Papua New Guinea (PNG), Lao People’s Democratic Republic (Lao PDR) and Mongolia, 3–6 years following national PCV13 introduction.
The success of cancer immunotherapies has highlighted the importance of monitoring the anti-tumour T cell response. Patients with mesothelioma frequently present with a malignant pleural effusion (MPE) that is commonly drained regularly to alleviate symptoms. As MPE contains tumour cells, T cells and cytokines, it provides a unique opportunity to sample immune events at the tumour site.
Gender- and sexuality-diverse (GSD) youths are at increased risk of depression and anxiety compared with their cisgender and heterosexual counterparts. Little is known about the risks for younger GSD adolescents (<15 years).
Preeclampsia is a hypertensive disorder of pregnancy with major maternal and fetal consequences. While the molecular basis of early-onset preeclampsia is well studied, the mechanisms underlying late-onset disease-and how they differ by fetal sex-remain poorly understood. Placental transcriptomic profiling at term can reveal persistent molecular alterations reflecting cumulative disease processes.
To describe writhing General Movements Assessment (GMA) classification and General Movement Optimality Score-Revised (GMOS-R) profiles in the general population; to explore relationships between GMOS-R scores and GMA classification, age of assessment and infant socio-demographic factors; and to establish the inter-rater reproducibility of writhing age GMA classification and GMOS-R.
Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated with the clinical manifestation of TTNtv.