Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand.

Purpose: To understand diversity, inclusion, and capacity of genetic counselors (GCs) in Australasia (Australia and New Zealand).

Methods: Individuals with or working toward a GC qualification in Australasia were invited to complete an online survey, between November 2022 and March 2023. Quantitative data were analyzed using descriptive statistics, 1-sample proportion -tests, 2-sample -tests, and χ tests.

Novel Strategies for Lung Cancer Interventional Diagnostics.

Lung cancer is a major global health issue, with 2.21 million cases and 1.80 million deaths reported in 2020.

Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease.

Clinically-relevant variants in the STUB1 gene have been associated with an autosomal dominant spinocerebellar ataxia 48 (SCA48), a recently described inherited neurodegenerative condition that is characterised by cognitive and psychiatric changes. To describe the clinical phenotype and genetic findings of three new Australian probands with STUB1 to expand the current understanding of the spectrum of clinical presentation and natural history of SCA48. Clinical and genetic review of patients diagnosed with SCA48 ataxia drawn from our centres.

The conserved noncoding RNA ModT coordinates growth and virulence in Clostridioides difficile.

Bacterial noncoding RNAs fulfill a variety of cellular functions as catalysts, as scaffolds in protein complexes or as regulators of gene expression. They often exhibit complex tertiary structures that are a key determinant of their biochemical function. Here, we characterize the structured "raiA motif" RNA from Clostridioides difficile, which is conserved in more than 2,500 bacterial species from the phyla Bacillota and Actinomycetota.

Paramedic perceptions of barriers and facilitators to the use of ambulance service appropriate care-referral pathways in Northern Ireland: a qualitative study.

Introduction: Paramedic clinical practice has seen significant evolution from the traditional role of transporting patients to an emergency department (ED). An evolving and flexible scope of practice, modernisation and healthcare reform has necessitated the development of a range of referral pathways for paramedics, with the aim of ensuring that service users receive the most appropriate care at the point of contact. Ambulance conveyance rates to EDs in Northern Ireland (NI) have only occasionally fallen below 75%.