"I just don't know enough": Australian perspectives on community involvement in health and medical research.

Background: There is increasing global support from governments and other funding bodies for community involvement in research, alongside a scientific and moral imperative for responsible and ethical research practice. Ninety per cent of Australian patient-led organisations in rare diseases have clearly articulated research priorities, indicating a desire among people affected by disease to be involved in research that impacts their communities. Philanthropic research, which is likely to have predominantly community-minded priorities, is worth over AU$1 billion annually and increased more than 100% between 2007 and 2017.

Ultrabroadband Optical Properties of 2D Titanium Carbide MXene.

MXenes have rapidly ascended as a prominent class of two-dimensional (2D) materials, renowned for their distinctive optical and electrical properties. Despite extensive exploration of MXenes' optical properties, existing studies predominantly focus on the near-infrared (NIR) to the ultraviolet spectral range, leaving the mid-infrared (mid-IR) range relatively uncharted. In this study, we conducted a comprehensive characterization of the intrinsic optical properties of TiCT MXene across an ultrabroadband spectral range, spanning from mid-IR (28 meV) to vacuum ultraviolet (VUV, 6.

The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.

Purpose: Families living with mitochondrial diseases (MD) often endure prolonged diagnostic journeys and invasive testing, yet many remain without a molecular diagnosis. The Australian Genomics Mitochondrial Flagship, comprising clinicians, diagnostic, and research scientists, conducted a prospective national study to identify the diagnostic utility of singleton genomic sequencing using blood samples.

Methods: A total of 140 children and adults living with suspected MD were recruited using modified Nijmegen criteria (MNC) and randomized to either exome + mitochondrial DNA (mtDNA) sequencing or genome sequencing.

Plasmid partitioning driven by collective migration of ParA between nucleoid lobes.

The ParABS system is crucial for the faithful segregation and inheritance of many bacterial chromosomes and low-copy-number plasmids. However, despite extensive research, the spatiotemporal dynamics of the ATPase ParA and its connection to the dynamics and positioning of the ParB-coated cargo have remained unclear. In this study, we utilize high-throughput imaging, quantitative data analysis, and computational modeling to explore the in vivo dynamics of ParA and its interaction with ParB-coated plasmids and the nucleoid.

Native prey, not landscape change or novel prey, drive cougar () distribution at a boreal forest range edge.

Many large carnivores, despite widespread habitat alteration, are rebounding in parts of their former ranges after decades of persecution and exploitation. Cougars () are apex predator with their remaining northern core range constricted to mountain landscapes and areas of western North America; however, cougar populations have recently started rebounding in several locations across North America, including northward in boreal forest landscapes. A camera-trap survey of multiple landscapes across Alberta, Canada, delineated a range edge; within this region, we deployed an array of 47 camera traps in a random stratified design across a landscape spanning a gradient of anthropogenic development relative to the predicted expansion front.

Mid-cell migration of the chromosomal terminus is coupled to origin segregation in Escherichia coli.

Bacterial chromosomes are dynamically and spatially organised within cells. In slow-growing Escherichia coli, the chromosomal terminus is initially located at the new pole and must therefore migrate to midcell during replication to reproduce the same pattern in the daughter cells. Here, we use high-throughput time-lapse microscopy to quantify this transition, its timing and its relationship to chromosome segregation.

Partition complex structure can arise from sliding and bridging of ParB dimers.

In many bacteria, chromosome segregation requires the association of ParB to the parS-containing centromeric region to form the partition complex. However, the structure and formation of this complex have been unclear. Recently, studies have revealed that CTP binding enables ParB dimers to slide along DNA and condense the centromeric region through the formation of DNA bridges.

Track: Inferred counting and tracking of replicating DNA loci.

Fluorescent microscopy is the primary method to study DNA organization within cells. However, the variability and low signal/noise commonly associated with live-cell time-lapse imaging challenges quantitative measurements. In particular, obtaining quantitative or mechanistic insight often depends on the accurate tracking of fluorescent particles.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of operation, Australian Genomics has evaluated the outcomes of genomic testing in more than 5,200 individuals across 19 rare disease and cancer flagship studies. Comprehensive analyses of the health economic, policy, ethical, legal, implementation and workforce implications of incorporating genomics in the Australian context have informed evidence-based change in policy and practice, resulting in national government funding and equity of access for a range of genomic tests.

A Qualitative Exploration of Challenges and Opportunities for Dog Welfare in Ireland Post COVID-19, as Perceived by Dog Welfare Organisations.

This novel qualitative study identifies challenges and opportunities to improve dog welfare in Ireland, as perceived by dog welfare organisations (DWOs), a previously underutilised stakeholder. This study sought the views of this predominantly voluntary sector of the next steps for policy and action in dog welfare, in light of the effects of the "puppy pandemic", increased costs and COVID-19 restrictions. An integrated online focus group and interview design involving DWOs was analysed using inductive thematic analysis.

High-throughput imaging and quantitative analysis uncovers the nature of plasmid positioning by ParABS.

The faithful segregation and inheritance of bacterial chromosomes and low-copy number plasmids requires dedicated partitioning systems. The most common of these, ParABS, consists of ParA, a DNA-binding ATPase and ParB, a protein that binds to centromeric-like sequences on the DNA cargo. The resulting nucleoprotein complexes are believed to move up a self-generated gradient of nucleoid-associated ParA.

Disentangled Representation Learning for OCTA Vessel Segmentation With Limited Training Data.

Optical coherence tomography angiography (OCTA) is an imaging modality that can be used for analyzing retinal vasculature. Quantitative assessment of en face OCTA images requires accurate segmentation of the capillaries. Using deep learning approaches for this task faces two major challenges.

Understanding the dog population in the Republic of Ireland: insight from existing data sources?

Background: Reliable information about national pet dog populations is an important contributor to informed decision-making, both by governments and national dog welfare organisations. In some countries, there is an improved understanding of aspects of the national pet dog population, but as yet limited published information is available in Ireland. The current study reviews the utility of existing data to inform our understanding of recent changes to the pet dog population in Ireland, including both biological and organisational processes.

Impact of AKI in Patients with Out-of-Hospital Cardiac Arrest Managed with VA ECMO.

AKI is associated with a high rate of mortality in patients managed with VA ECMO after out-of-hospital cardiac arrest.Therapeutic hypothermia is associated with hypokalemia and hypophosphatemia.During rewarming after hypothermia, hyperphosphatemia and hyperkalemia can develop.

The quantitative basis for the redistribution of immobile bacterial lipoproteins to division septa.

The spatial localisation of proteins is critical for most cellular function. In bacteria, this is typically achieved through capture by established landmark proteins. However, this requires that the protein is diffusive on the appropriate timescale.

Health-related out-of-pocket expenses for children living with rare diseases - tuberous sclerosis and mitochondrial disorders: A prospective pilot study in Australian families.

Aim: We aimed to describe health-related out-of-pocket (OOP) expenses incurred by Australian families living with children with chronic and complex diseases.

Methods: A prospective pilot study of OOP expenses in families with children with tuberous sclerosis (TS) or mitochondrial disorders (MD) in 2016-2017. An initial survey assessed the family's financial situation, child's health functioning and estimated previous 6 months' and lifetime OOP expenses.

The CTPase activity of ParB determines the size and dynamics of prokaryotic DNA partition complexes.

ParB-like CTPases mediate the segregation of bacterial chromosomes and low-copy number plasmids. They act as DNA-sliding clamps that are loaded at parS motifs in the centromere of target DNA molecules and spread laterally to form large nucleoprotein complexes serving as docking points for the DNA segregation machinery. Here, we solve crystal structures of ParB in the pre- and post-hydrolysis state and illuminate the catalytic mechanism of nucleotide hydrolysis.

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.

This document provides consensus-based recommendations for general physicians and primary care physicians who diagnose and manage patients with mitochondrial diseases (MD). It builds on previous international guidelines, with particular emphasis on clinical management in the Australian setting. This statement was prepared by a working group of medical practitioners, nurses and allied health professionals with clinical expertise and experience in managing Australian patients with MD.

A simple, quantitative assay for the detection of viable but non-culturable (VBNC) bacteria.

This protocol determines the fraction of a bacterial population that is viable and culturable, viable and non-culturable, or non-viable (dead). Each population is detected by isolating colonies on agar plates, performing direct counts, and staining for live or dead cells. Its application is limited to bacteria that are stainable and when permissible growth conditions are known.

The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis.

Background: The diagnostic odyssey for people with a rare disease is well known, but difficulties do not stop at diagnosis. Here we investigate the experience of people, or parents of children with a diagnosed mitochondrial respiratory chain disorder (MRCD) in the management of their disease. The work complements ongoing projects around implementation of consensus recommendations for management of people with MRCD.

A calibration equation between Δ values of carbonate and temperature.

Rationale: Information on the temperature of formation or alteration of carbonate minerals can be obtained by measuring the abundance of the isotopologues 47 and 48 (Δ and Δ values) of CO released during acid dissolution. The combination of these two proxies can potentially provide a greater insight into the temperature of formation, particularly if the carbonate minerals form by non-equilibrium processes.

Methods: We have precipitated calcium carbonates at seven temperatures between 5 and 65°C and measured their δ values using a Thermo-253 plus isotope ratio mass spectrometer.

Pattern selection in reaction diffusion systems.

Turing's theory of pattern formation has been used to describe the formation of self-organized periodic patterns in many biological, chemical, and physical systems. However, the use of such models is hindered by our inability to predict, in general, which pattern is obtained from a given set of model parameters. While much is known near the onset of the spatial instability, the mechanisms underlying pattern selection and dynamics away from onset are much less understood.

Not really a smoker? A study on the prevalence of and attitudes to occasional social smoking in a third level institution in Ireland.

Background: Occasional smoking is defined as any smoking occurring on a less than daily basis. Social smoking, i.e.