Health professionals contacting patients' relatives directly about genetic risk (with patient consent): current clinical practice and perspectives.

Genetic testing can provide risk information to individuals and their blood relatives. Cascade testing uptake by at-risk relatives is <50%, with suboptimal family communication a key barrier to risk notification. The practice of health professionals (HPs) directly contacting relatives (with patient consent) to assist with risk notification has significant international support, but little is known about the practices and views of HPs in Australia.

Spectral location for the universal scaling regime in Martian atmospheric turbulence.

Atmospheric turbulence, irregular fluctuations of the fluid state, is studied on Mars. Universality of the turbulence spectrum underpins atmospheric models where computational requirements preclude full fidelity simulations of the smallest scales. However, there are discrepancies among reports on the existence and spectral location of universal scaling in Martian atmospheric data.

Seismically detected cratering on Mars: Enhanced recent impact flux?

Seismic observations of impacts on Mars indicate a higher impact flux than previously measured. Using six confirmed seismic impact detections near the NASA InSight lander and two distant large impacts, we calculate appropriate scalings to compare these rates with lunar-based chronology models. We also update the impact rate from orbital observations using the most recent catalog of new craters on Mars.

Discovery of CVN293, a Brain Permeable KCNK13 (THIK-1) Inhibitor Suitable for Clinical Assessment.

The potassium (K) ion channel KCNK13 is specifically expressed in human microglia with elevated expression observed in post-mortem human brain tissue from patients with Alzheimer's disease. Modulation of KCNK13 activity by a small-molecule inhibitor is proposed as a potential treatment for neurodegenerative diseases. Herein, we describe the evolution of a series of KCNK13 inhibitors derived from a high-throughput screening campaign, resulting in , a potent, selective, and brain permeable clinical candidate molecule.

Codesigning an E-Health Intervention for Surgery Preparation and Recovery.

Surgery is a significant part of healthcare, but its demand is increasing, leading to challenges in managing patient care. Inefficient perioperative practices and traditional linear models contribute to adverse outcomes and patient anxiety. E-health interventions show promise in improving surgical care, but more research is needed.

An acoustic investigation of the near-surface turbulence on Mars.

The Perseverance rover is carrying out an original acoustic experiment on Mars: the SuperCam microphone records the spherical acoustic waves generated by laser sparks at distances from 2 m to more than 8 m. These N-shaped acoustic waves scatter from the multiple local heterogeneities of the turbulent atmosphere. Therefore, large and random fluctuations of sound travel time and intensity develop as the waves cross the medium.

Deformation versus Sphericity in the Ground States of the Lightest Gold Isotopes.

The changes in mean-squared charge radii of neutron-deficient gold nuclei have been determined using the in-source, resonance-ionization laser spectroscopy technique, at the ISOLDE facility (CERN). From these new data, nuclear deformations are inferred, revealing a competition between deformed and spherical configurations. The isotopes ^{180,181,182}Au are observed to possess well-deformed ground states and, when moving to lighter masses, a sudden transition to near-spherical shapes is seen in the extremely neutron-deficient nuclides, ^{176,177,179}Au.

Identification and Optimization of RNA-Splicing Modulators as Huntingtin Protein-Lowering Agents for the Treatment of Huntington's Disease.

Huntington's disease (HD) is caused by an expanded CAG trinucleotide repeat in exon 1 of the huntingtin () gene. We report the design of a series of pre-mRNA splicing modulators that lower huntingtin (HTT) protein, including the toxic mutant huntingtin (mHTT), by promoting insertion of a pseudoexon containing a premature termination codon at the exon 49-50 junction. The resulting transcript undergoes nonsense-mediated decay, leading to a reduction of mRNA transcripts and protein levels.

Development of a loop-mediated isothermal amplification (LAMP)-based electrochemical test for rapid detection of SARS-CoV-2.

Rapid, reliable, sensitive, portable, and accurate diagnostics are required to control disease outbreaks such as COVID-19 that pose an immense burden on human health and the global economy. Here we developed a loop-mediated isothermal amplification (LAMP)-based electrochemical test for the detection of SARS-CoV-2 that causes COVID-19. The test is based on the oxidation-reduction reaction between pyrophosphates (generated from positive LAMP reaction) and molybdate that is detected by cyclic voltammetry using inexpensive and disposable carbon screen printed electrodes.

Which behaviours matter? Prioritising food waste reduction behaviours for targeted policy and program approaches.

More than half of the waste in the global food system's consumption stage comes from households, which therefore represent a critical entry point to tackle this challenge with its combined social, economic, and environmental impacts. Yet there is a tension for policy makers between promoting food waste reduction behaviours to householders and overloading them with too many options that make them less likely to engage. This study utilises an Impact-Likelihood methodology to identify the range of behaviours associated with household food waste reduction and to group them according to their impact and likelihood of adoption, as well as their current adoption rates.

Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public.

Genetic risk information for medically actionable conditions has relevance for patients' blood relatives. However, cascade testing uptake in at-risk families is <50%, and the burden of contacting relatives is a significant barrier to dissemination of risk information. Health professionals (HPs) could notify at-risk relatives directly, with patients' consent.

Free Online Decision Tools to Support Parents Making Decisions About Their Children's Chronic Health Condition: An Environmental Scan.

Background: Medical decisions parents make on their children's behalf can be challenging. Free online decision support tools are created to help parents faced with these decisions.

Objective: We used an environmental scan to identify free, online tools that support parents in making decisions about their children's chronic health condition.

The sound of a Martian dust devil.

Dust devils (convective vortices loaded with dust) are common at the surface of Mars, particularly at Jezero crater, the landing site of the Perseverance rover. They are indicators of atmospheric turbulence and are an important lifting mechanism for the Martian dust cycle. Improving our understanding of dust lifting and atmospheric transport is key for accurate simulation of the dust cycle and for the prediction of dust storms, in addition to being important for future space exploration as grain impacts are implicated in the degradation of hardware on the surface of Mars.

The differential ability of two species of seagrass to use carbon dioxide and bicarbonate and their modelled response to rising concentrations of inorganic carbon.

Seagrass meadows are one of the most productive ecosystems on the planet, but their photosynthesis rate may be limited by carbon dioxide but mitigated by exploiting the high concentration of bicarbonate in the ocean using different active processes. Seagrasses are declining worldwide at an accelerating rate because of numerous anthropogenic pressures. However, rising ocean concentrations of dissolved inorganic carbon, caused by increases in atmospheric carbon dioxide, may benefit seagrass photosynthesis.

Largest recent impact craters on Mars: Orbital imaging and surface seismic co-investigation.

Two >130-meter-diameter impact craters formed on Mars during the later half of 2021. These are the two largest fresh impact craters discovered by the Mars Reconnaissance Orbiter since operations started 16 years ago. The impacts created two of the largest seismic events (magnitudes greater than 4) recorded by InSight during its 3-year mission.

Planktonic foraminifera organic carbon isotopes as archives of upper ocean carbon cycling.

The carbon cycle is a key regulator of Earth's climate. On geological time-scales, our understanding of particulate organic matter (POM), an important upper ocean carbon pool that fuels ecosystems and an integrated part of the carbon cycle, is limited. Here we investigate the relationship of planktonic foraminifera-bound organic carbon isotopes (δC) with δC of POM (δC).

Virtual Engagement of Families in the Intensive Care Unit During COVID-19: A Descriptive Survey of Family Members of Patients and Health Care Workers.

Traditional face-to-face family member visits in the intensive care unit (ICU) are challenged during the coronavirus disease pandemic with time-critical visiting of the ICU patient being impossible. This study aimed to explore reported experiences and satisfaction surrounding the use of technology for virtual visits and virtual family meetings in the ICU setting. Two groups were surveyed: (1) family members of critically ill patients in the ICU and (2) health care workers caring for these patients.

Identification of a Potent, Selective, and Brain-Penetrant Rho Kinase Inhibitor and its Activity in a Mouse Model of Huntington's Disease.

The Rho kinase (ROCK) pathway is implicated in the pathogenesis of several conditions, including neurological diseases. In Huntington's disease (HD), ROCK is implicated in mutant huntingtin (HTT) aggregation and neurotoxicity, and members of the ROCK pathway are increased in HD mouse models and patients. To validate this mode of action as a potential treatment for HD, we sought a potent, selective, central nervous system (CNS)-penetrant ROCK inhibitor.

The importance of plasma protein and tissue binding in a drug discovery program to successfully deliver a preclinical candidate.

Plasma protein binding and tissue binding are arguably two of the most critical parameters that are measured as part of a drug discovery program since, according to the free drug hypothesis, it is the free drug that is responsible for both efficacy and toxicity. This chapter aims to deconstruct the role of plasma protein and tissue binding in drug discovery programs, and to consider the conclusion made by Pfizer and Genentech/Depomed a decade ago that optimising plasma protein binding as an independent parameter does not significantly influence efficacy. This chapter will also examine how binding metrics are applied in drug discovery programs and explore circumstances where optimising plasma protein or tissue binding can be an effective strategy to deliver a candidate molecule for preclinical development with an early indication of sufficient therapeutic index.

The dynamic atmospheric and aeolian environment of Jezero crater, Mars.

Despite the importance of sand and dust to Mars geomorphology, weather, and exploration, the processes that move sand and that raise dust to maintain Mars' ubiquitous dust haze and to produce dust storms have not been well quantified in situ, with missions lacking either the necessary sensors or a sufficiently active aeolian environment. Perseverance rover's novel environmental sensors and Jezero crater's dusty environment remedy this. In Perseverance's first 216 sols, four convective vortices raised dust locally, while, on average, four passed the rover daily, over 25% of which were significantly dusty ("dust devils").

In situ recording of Mars soundscape.

Before the Perseverance rover landing, the acoustic environment of Mars was unknown. Models predicted that: (1) atmospheric turbulence changes at centimetre scales or smaller at the point where molecular viscosity converts kinetic energy into heat, (2) the speed of sound varies at the surface with frequency and (3) high-frequency waves are strongly attenuated with distance in CO (refs. ).