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.

Imaging of prostate micro-architecture using three-dimensional wide-field optical coherence tomography.

Prostate cancer is a global health issue that requires new diagnostic methods to provide accurate and precise visualization of prostate tissue on the micro-scale. Such methods have the potential to improve nerve-sparing surgery and to provide image guidance during prostate biopsy. In this feasibility study, we assess the potential of three-dimensional wide-field optical coherence tomography (OCT), covering a volumetric imaging field-of-view up to 46 × 46 × 1 mm, to visualize micro-architecture in 18 freshly excised human prostate specimens.

Non-invasive Assessment of HydroQUInidine EffecT in Brugada Syndrome (QUIET BrS).

Background: Hydroquinidine reduces arrhythmic events in patients with Brugada syndrome (BrS). The mechanism by which it exerts antiarrhythmic benefit and its electrophysiological effects on BrS substrate remain incompletely understood.

Objective: This study aimed to determine the effect of Hydroquinidine on ventricular depolarisation and repolarisation in patients with BrS in vivo.

Prospective piperacillin lymphocyte transformation testing in patients with cystic fibrosis receiving regular and desensitization courses of piperacillin-tazobactam.

Background: Piperacillin-tazobactam is used in patients with cystic fibrosis to treat recurrent respiratory infections. Exposure is associated with a high frequency of non-immediate hypersensitivity.

Objective: To assess the applicability of the lymphocyte transformation test (LTT) for the diagnosis of piperacillin hypersensitivity and the influence of desensitization on piperacillin-specific T-cell responses.

Assessing multidimensional fidelity in a pilot optimization trial: A process evaluation of four intervention components supporting medication adherence in women with breast cancer.

Adherence to adjuvant endocrine therapy in women with breast cancer is low. We conducted a 24-1 fractional factorial pilot optimization trial to test four intervention components supporting medication adherence [text messages, information leaflet, acceptance and commitment therapy (ACT), self-management website], in the preparation phase of the multiphase optimization strategy. Guided by the National Institute of Health Behavior Change Consortium fidelity framework, we investigated fidelity of design, training, delivery, receipt, and enactment of four intervention components.

Your heart can't see what sneakers you are wearing: Exercise training load in endurance athletes is inadequately quantified in sports cardiology - A systematic review.

Background: Training load may be an important factor underlying the (patho-)physiologic cardiovascular adaptations from endurance exercise. Yet quantifying training load remains challenging due to the complexity of its components (Frequency, Intensity, Time, and Type; F.I.

Qualitative Evaluation of mHealth Implementation for Infectious Disease Care in Low- and Middle-Income Countries: Narrative Review.

Background: Mobile health (mHealth) interventions have the potential to improve health outcomes in low- and middle-income countries (LMICs) by aiding health workers to strengthen service delivery, as well as by helping patients and communities manage and prevent diseases. It is crucial to understand how best to implement mHealth within already burdened health services to maximally improve health outcomes and sustain the intervention in LMICs.

Objective: We aimed to identify key barriers to and facilitators of the implementation of mHealth interventions for infectious diseases in LMICs, drawing on a health systems analysis framework.

Increased frequency of germline pathogenic variants among individuals with dermatofibrosarcoma protuberans.

Purpose: To identify candidate susceptibility genes for dermatofibrosarcoma protuberans (DFSP).

Methods: All individuals with DFSP from the International Sarcoma Kindred Study ( = 3767 individuals with sarcoma diagnoses from Australia, Europe, New Zealand, and United States) and cohorts that were not ascertained based on sarcoma status or other phenotypes (Geisinger MyCode,  = 170,503 individuals, United States; UK Biobank,  = 469,789 individuals, United Kingdom) were evaluated for germline pathogenic or likely pathogenic (P/LP) variants in 156 cancer genes.

Results: There were 92 unrelated individuals with DFSP across the 3 cohorts.

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance (VUS) in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease (CHD).

Methods: Between April 2019 and December 2021, 600 probands meeting cardiovascular disorder criteria from 17 cardiology and genetics clinics across Australia were enrolled in the Flagship and underwent GS.

Independent SAGE as an example of effective public dialogue on scientific research.

The World Health Organization declared COVID-19 to be a public health emergency of international concern on 30 January 2020 and then a pandemic on 11 March 2020. In early 2020, a group of UK scientists volunteered to provide the public with up-to-date and transparent scientific information. The group formed the Independent Scientific Advisory Group for Emergencies (Independent SAGE) and provided live weekly briefings to the public via YouTube.

Assessing the feasibility of handheld scanning technologies in neonatal intensive care: Trueness, acceptability, and suitability for personalised medical devices.

Background: Nasal continuous positive airway pressure (CPAP) injuries are common for premature infants. Clinical use of three-dimensional (3D) scanning is established in adult medicine, but the possibilities in neonatal care are still emerging. Custom printed CPAP devices have the potential to reduce injuries and disfigurement in this vulnerable population.

Chinese herbal medicine for obstructive sleep apnoea: a systematic review with meta-analysis.

Purpose: Chinese Herbal Medicine (CHM) may have a place in the treatment of obstructive sleep apnoea (OSA), but the evidence has not been systematically assessed. The objective of this study is to evaluate the evidence for the effectiveness of CHM for OSA.

Methods: CENTRAL, EMBase, PubMed, CINAHL, CNKI, Wanfang and Chongqing VIP were searched from database inception to the 13th of August 2023.

π-HuB: the proteomic navigator of the human body.

The human body contains trillions of cells, classified into specific cell types, with diverse morphologies and functions. In addition, cells of the same type can assume different states within an individual's body during their lifetime. Understanding the complexities of the proteome in the context of a human organism and its many potential states is a necessary requirement to understanding human biology, but these complexities can neither be predicted from the genome, nor have they been systematically measurable with available technologies.

Symmetric dimethylguanidino valeric acid, a novel single biomarker of hepatic steatosis.

There is an unmet need for a biomarker of liver fat. We identified dimethylguanidino valeric acid (DMGV) as a circulating biomarker of liver fat. Here, we assess its two isoforms-symmetric (SDGV) and asymmetric (ADGV)-as biomarkers of steatosis.

Comprehensive humoral and cellular immune responses to COVID-19 vaccination in adults with cancer.

Background: The COVID-19 pandemic has significantly impacted people with cancer. Initial vaccine studies excluded patients with malignancy. Immunocompromised individuals remain vulnerable to SARS-CoV-2, necessitating detailed understanding of vaccine response.

Treatment sequence with tebentafusp and immune checkpoint inhibitors in patients with metastatic uveal melanoma and metastatic GNA11/GNAQ mutant melanocytic tumors.

Background: Metastatic uveal melanoma (mUM) is rare. Immune checkpoint inhibitors (ICIs) have shown modest efficacy in mUM. Tebentafusp prolonged overall survival (OS) in a phase 3 study.

Dynamic tracking of native precursors in adult mice.

Hematopoietic dysfunction has been associated with a reduction in the number of active precursors. However, precursor quantification at homeostasis and under diseased conditions is constrained by the scarcity of available methods. To address this issue, we optimized a method for quantifying a wide range of hematopoietic precursors.