Final results of the National Oncology Mentorship Program 2023 and its impact on burnout and professional fulfilment.

Background And Aims: Significant burnout and low professional fulfilment are noted among medical oncologists and trainees. The National Oncology Mentorship Programme (NOMP23) was designed to evaluate the impact of a 1-year mentorship program between oncology trainees (mentees) and consultants (mentors) on improving professional fulfilment and burnout.

Methods: NOMP23 was a single-arm, prospective cohort study.

Repeat-Rich Regions Cause False-Positive Detection of NUMTs: A Case Study in Amphibians Using an Improved Cane Toad Reference Genome.

Mitochondrial DNA (mtDNA) has been widely used in genetics research for decades. Contamination from nuclear DNA of mitochondrial origin (NUMTs) can confound studies of phylogenetic relationships and mtDNA heteroplasmy. Homology searches with mtDNA are widely used to detect NUMTs in the nuclear genome.

Harnessing genomic technologies for one health solutions in the tropics.

Background: The targeted application of cutting-edge high-throughput molecular data technologies provides an enormous opportunity to address key health, economic and environmental issues in the tropics within the One Health framework. The Earth's tropical regions are projected to contain > 50% of the world's population by 2050 coupled with 80% of its biodiversity however these regions are relatively less developed economically, with agricultural productivity substantially lower than temperate zones, a large percentage of its population having limited health care options and much of its biodiversity understudied and undescribed. The generation of high-throughput molecular data and bespoke bioinformatics capability to address these unique challenges offers an enormous opportunity for people living in the tropics.

Navigating the mutation maze: An oncogenic driver's guide to macrophage reprogramming.

The mechanisms by which oncogenic mutations and anatomical locations work together to influence the immune environment within tumors are not well understood. In this issue of Immunity, Ross et al. show that H3.

Using a behaviour-change approach to support uptake of population genomic screening and management options for breast or prostate cancer.

As the possibility of implementing population genomic screening programs for the risk of developing hereditary cancers in health systems increases, understanding how to support individuals who wish to have genomic screening is essential. This qualitative study aimed to link public perceived barriers to a) taking up the offer of population genomic screening for breast or prostate cancer risk and b) taking up risk-management options following their result, with possible theory-informed behaviour-change approaches that may support implementation. Ten focus groups were conducted with a total of 25 members of the Australian public to identify and then categorise barriers within the behaviour-change Capability, Opportunity, Motivation - Behaviour (COM-B) model.

Connecting the changing trace elements spectrum and survival in sarcoma: a pilot study.

Objectives: While some metals have been reported as carcinogens or potential carcinogens, only few modern-standard datasets including a large number of elements are available. The present analysis established a first trace elements spectrum by relating the concentration of metals and trace elements in the serum of sarcoma patients with survival data.

Methods: Patients with sarcoma and controls were retrospectively selected from the International Sarcoma Kindred Study database (ISKS).

Goal-Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single-Blind, Randomized Controlled Superiority Trial.

Objective: Rehabilitation is thought to reduce ataxia severity in individuals with hereditary cerebellar ataxia (HCA). This multicenter, randomized controlled superiority trial aimed to examine the efficacy of a 30-week goal-directed rehabilitation program compared with 30 weeks of standard care on function, ataxia, health-related quality of life, and balance in individuals with an HCA.

Methods: Individuals with an autosomal dominant or recessive ataxia (aged ≥15 years) were enrolled at 5 sites in Australia.

Association between the Sp1-binding-site polymorphism in the collagen type I alpha 1 (COLIA1) gene and bone phenotypes: the Dubbo Osteoporosis Epidemiology Study.

Introduction: Polymorphisms within the collagen 1 alpha 1 gene (COLIA1) have been shown to be associated with bone mineral density (BMD). This study aimed to test the hypothesis that COLIA1 polymorphisms are associated with bone loss and fragility fractures.

Materials And Methods: The study involved 809 postmenopausal women aged 60 years and above in the Dubbo Osteoporosis Epidemiology Study who had COLIA1 genotypes and at least two BMD measurements over a 30-year period.

Identification of clonally expanded γδ T-cell populations during CAR-T cell therapy.

Anti-CD19 Chimeric Antigen Receptor (CAR)-T cell therapies have shown promise for treating B cell malignancies, but the clinical outcome is influenced by both the CAR-T product and the patient's immune system. The role of γδ T cells in the context of CAR-T cell therapy remains poorly understood. This study investigates the transcriptional heterogeneity, clonal expansion and dynamics of γδ T cells in patients undergoing anti-CD19 CAR-T cell therapy.

Cell Populations in Human Breast Cancers are Molecularly and Biologically Distinct with Age.

Aging is associated with increased breast cancer risk and outcomes are worse for the oldest and youngest patients, regardless of subtype. It is not known how cells in the breast tumor microenvironment are impacted by age and how they might contribute to age-related disease pathology. Here, we discover age-associated differences in cell states and interactions in human estrogen receptor-positive (ER+) and triple-negative breast cancers (TNBC) using new computational analyses of existing single-cell gene expression data.

Paraneoplastic progressive encephalomyelitis with rigidity and myoclonus associated with monoclonal B-cell lymphocytosis in the setting of longstanding methotrexate use: case report.

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare but debilitating disease within the stiff person syndrome (SPS) spectrum characterised by muscle rigidity, spasms, myoclonus, dysautonomia, and brainstem dysfunction. The exact pathogenetic mechanism is unclear, although there is an association with the presence of glycine receptor antibodies in serum and cerebrospinal fluid, and some cases are paraneoplastic. Here, we report a case of paraneoplastic, glycine receptor antibody-positive PERM associated with an otherwise subclinical monoclonal B-cell lymphocytosis (MBL) of the non-CLL phenotype, which may be, in turn, likely secondary to long-term methotrexate use [i.

Auto-Abs neutralizing type I IFNs in patients with severe Powassan, Usutu, or Ross River virus disease.

Arboviral diseases are a growing global health concern. Pre-existing autoantibodies (auto-Abs) neutralizing type I interferons (IFNs) can underlie encephalitis due to West Nile virus (WNV) (∼40% of patients) and tick-borne encephalitis (TBE, due to TBE virus [TBEV]) (∼10%). We report here that these auto-Abs can also underlie severe forms of rarer arboviral infections.

Comparison of Posttherapy 4- and 24-Hour [Lu]Lu-PSMA SPECT/CT and Pretherapy PSMA PET/CT in Assessment of Disease in Men with Metastatic Castration-Resistant Prostate Cancer.

[Lu]Lu-prostate-specific membrane antigen (PSMA) is an effective treatment for metastatic castration-resistant prostate cancer (mCRPC). [Lu]Lu-PSMA SPECT/CT 24 h after injection has shown potential as a response biomarker for [Lu]Lu-PSMA therapy but is not convenient for patients. This study investigated 4-h [Lu]Lu-PSMA SPECT/CT as an alternative to 24-h [Lu]Lu-PSMA SPECT/CT for evaluation of treatment response.

Assessing the impact of a dedicated referral and management algorithm in maternal hypothyroidism.

Background: The significant risks of hypothyroidism during pregnancy can be mitigated through timely diagnosis and initiation of thyroxine to achieve a maternal euthyroid state. This study aimed to evaluate the efficiency of hospital endocrine services by assessing the rate of thyroxine commencement before the initial clinic appointment, the median gestational age at the first consultation, the rate of guideline-appropriate investigations, perinatal outcomes, and the proportion of referred patients who achieved their target thyroid-stimulating hormone (TSH) levels before and after implementing a dedicated referral and management pathway.

Methods: A retrospective clinical audit was conducted using electronic medical records for the first fifty consecutive patients with hypothyroidism referred to the hospital clinic during two-time intervals: from April 1 to September 1, 2020 (pre-intervention) and from April 1 to September 1, 2021 (postintervention).

Multispectral Imaging of Collagen, NAD(P)H and Flavin Autofluorescence in Mesenchymal Stem Cells Undergoing Trilineage Differentiation.

Understanding the molecular mechanisms of differentiation is important for regenerative medicine and developmental biology. This study aims to characterise the role of the glycolysis/oxidative phosphorylation balance as a driver of mesenchymal stem cell (MSC) differentiation. Cells were maintained in normal conditions or stimulated towards the MSC trilineage cell types over 21 days.

Impact of COVID-19 on lung cancer care in New South Wales, Australia: real-world data from the EnRICH Program.

Objectives: The coronavirus disease 2019 (COVID-19) pandemic disrupted healthcare systems worldwide, causing substantial changes to routine healthcare delivery. National and international modelling studies have predicted adverse impacts of this disruption. This study aimed to assess the real-world impact of the COVID-19 pandemic on quality of care and outcomes for patients with lung cancer in New South Wales (NSW).

Neurodevelopmental Disorder Caused by Deletion of , a lncRNA Gene.

encodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with haploinsufficiency.