Consultation informs strategies to improve functional evidence use in variant classification.

To determine if a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Experimental assay data can provide strong functional evidence for or against pathogenicity in variant classification, but appears to be underutilised. We surveyed genetic diagnostic professionals in Australasia to assess their application of functional evidence in clinical practice.

Examining the Meaning of "Violence" Through Machine Learning Techniques.

This paper examines the meaning of violence in contemporary Western societies. Scholars have argued that in contemporary Western societies, the concept is expanding toward a broader understanding of violence, beyond its "traditional" usage in the context of crime and war. The current paper aims to generate empirical evidence that speaks to this question.

Medially Migrating Vestibular Schwannomas: A Review of 10 Cases.

Objective: To analyze cases of medial migration of vestibular schwannomas to propose an underlying mechanism.

Study Design: Retrospective chart review.

Patients: Ten patients from one institution with sporadic vestibular schwannomas that demonstrated medial migration toward the cerebellopontine angle on serial imaging were reviewed.

Disability, Pity, and the Workplace.

Purpose: The purpose is to examine perceptions of pity directed toward people with disabilities to gain a deeper understanding of the effect of these perceptions on the employment success of people with disabilities and to provide direction to disability-related training and strategic planning in the workplace.

Methods: Two studies were developed to explore these relationships. The first measured the characteristics most frequently associated with people with disabilities in the workplace.

Comparison of Outcomes After Cochlear Implantation in a Veteran Versus Nonveteran Population.

Objective: To evaluate for equivalence in postoperative changes of speech recognition scores in a veteran patient population undergoing cochlear implantation (CI) compared to matched nonveteran patients.

Study Design: Retrospective chart review.

Setting: Tertiary referral center.

A Randomized, Crossover Trial Assessing Appetite, Energy Metabolism, Blood Biomarkers, and Ad Libitum Food Intake Responses to a Mid-Morning Pecan Snack vs. an Equicaloric High-Carbohydrate Snack in Healthy Volunteers with Overweight/Obesity.

Background: The differential effects of pecans versus other popular snack foods on appetite and blood markers of metabolism and satiety have not been well studied. This study investigated the effects of a single mid-morning snack of pecans or tortilla chips on subjective appetite, food intake, blood measures of hormones and metabolites, and resting energy expenditure.

Methods: Twenty participants with overweight and obesity were enrolled in a within-participants, randomized crossover trial.

Future-proofing genomic data and consent management: a comprehensive review of technology innovations.

Genomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases.

Combining soft robotics and telerehabilitation for improving motor function after stroke.

Telerehabilitation and robotics, either traditional rigid or soft, have been extensively studied and used to improve hand functionality after a stroke. However, a limited number of devices combined these two technologies to such a level of maturity that was possible to use them at the patients' home, unsupervised. Here we present a novel investigation that demonstrates the feasibility of a system that integrates a soft inflatable robotic glove, a cloud-connected software interface, and a telerehabilitation therapy.

Implementation of an intervention to reduce urine dipstick testing in aged care homes: a qualitative study of enablers and barriers, and strategies to enhance delivery.

Objective: The 'To Dip or Not to Dip' (TDONTD) intervention aims to reduce antibiotic prescribing for urinary tract infection (UTI) by reducing low-value dipstick testing. The aims of this study were to use a qualitative approach to (1) evaluate potential influences on the delivery of the TDONTD intervention in Australian residential aged care homes (RACHs) by identifying perceived barriers and enablers to delivery and acceptance; and (2) propose intervention strategies to address barriers and enhance enablers.

Design: A qualitative before-after process evaluation of a multisite implementation study using interviews with nurse and pharmacist implementers.

Effect of Octamer-Binding Transcription Factor 4 Overexpression on the Neural Induction of Human Dental Pulp Stem Cells.

Stem cell-based therapy is a potential alternative strategy for brain repair, with neural stem cells (NSC) presenting as the most promising candidates. Obtaining sufficient quantities of NSC for clinical applications is challenging, therefore alternative cell types, such as neural crest-derived dental pulp stem cells (DPSC), may be considered. Human DPSC possess neurogenic potential, exerting positive effects in the damaged brain through paracrine effects.

Sudden Sensorineural Hearing Loss in Patient Incidental to Treatment With Hyaluronic Acid Filler.

Hyaluronic acid fillers comprise a major component of aesthetic practice with few serious adverse effects. Hearing loss has not been previously associated with hyaluronic acid filler. The authors describe a case in which a patient developed sudden sensorineural hearing loss 1 day after filler injection into the nasolabial folds.

Assessing the potential of remote sensing-based models to predict old-growth forests on large spatiotemporal scales.

Old-growth forests provide a broad range of ecosystem services. However, due to poor knowledge of their spatiotemporal distribution, implementing conservation and restoration strategies is challenging. The goal of this study is to compare the predictive ability of socioecological factors and different sources of remotely sensed data that determine the spatiotemporal scales at which forest maturity attributes can be predicted.

New chromosome-scale genomes provide insights into marine adaptations of sea snakes (Hydrophis: Elapidae).

Background: Sea snakes underwent a complete transition from land to sea within the last ~ 15 million years, yet they remain a conspicuous gap in molecular studies of marine adaptation in vertebrates.

Results: Here, we generate four new annotated sea snake genomes, three of these at chromosome-scale (Hydrophis major, H. ornatus and H.

Factors Associated with Psychotropic Medication Use in People Living with Dementia in the Community: A Systematic Review and Meta-Analysis.

Background: There has been considerable focus on the use of psychotropic agents in people living with dementia in long-term care. However, psychotropic use often commences well before transitioning to long-term care.

Objectives: To synthesize the available literature to identify factors associated with psychotropic medication use in people living with dementia in the community.

Rationale for the Development of a Novel Clinical Grading Scale for Postoperative Facial Nerve Function: Results of a Multidisciplinary International Working Group.

Objective: The objective of the current study was to present the results of an international working group survey identifying perceived limitations of existing facial nerve grading scales to inform the development of a novel grading scale for assessing early postoperative facial paralysis that incorporates regional scoring and is anchored in recovery prognosis and risk of associated complications.

Study Design: Survey.

Setting: A working group of 48 multidisciplinary clinicians with expertise in skull base, cerebellopontine angle, temporal bone, or parotid gland surgery.

Reproducible Bioinformatics Analysis Workflows for Detecting Gene Fusions in B-Cell Acute Lymphoblastic Leukaemia Patients.

B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by diverse genomic alterations, the most frequent being gene fusions detected via transcriptomic analysis (mRNA-seq). Due to its hypervariable nature, gene fusions involving the Immunoglobulin Heavy Chain () locus can be difficult to detect with standard gene fusion calling algorithms and significant computational resources and analysis times are required. We aimed to optimize a gene fusion calling workflow to achieve best-case sensitivity for gene fusion detection.

The endometrial transcriptome transition preceding receptivity to embryo implantation in mice.

Background: Receptivity of the uterus is essential for embryo implantation and progression of mammalian pregnancy. Acquisition of receptivity involves major molecular and cellular changes in the endometrial lining of the uterus from a non-receptive state at ovulation, to a receptive state several days later. The precise molecular mechanisms underlying this transition and their upstream regulators remain to be fully characterized.

Circulating epigenomic biomarkers correspond with kidney disease susceptibility in high-risk populations with type 2 diabetes mellitus.

Aims: To investigate epigenomic indices of diabetic kidney disease (DKD) susceptibility among high-risk populations with type 2 diabetes mellitus.

Methods: KDIGO (Kidney Disease: Improving Global Outcomes) clinical guidelines were used to classify people living with or without DKD. Differential gene methylation of DKD was then assessed in a discovery Aboriginal Diabetes Study cohort (PROPHECY, 89 people) and an external independent study from Thailand (THEPTARIN, 128 people).

Artificial intelligence in ovarian cancer histopathology: a systematic review.

This study evaluates the quality of published research using artificial intelligence (AI) for ovarian cancer diagnosis or prognosis using histopathology data. A systematic search of PubMed, Scopus, Web of Science, Cochrane CENTRAL, and WHO-ICTRP was conducted up to May 19, 2023. Inclusion criteria required that AI was used for prognostic or diagnostic inferences in human ovarian cancer histopathology images.

Transient naive reprogramming corrects hiPS cells functionally and epigenetically.

Cells undergo a major epigenome reconfiguration when reprogrammed to human induced pluripotent stem cells (hiPS cells). However, the epigenomes of hiPS cells and human embryonic stem (hES) cells differ significantly, which affects hiPS cell function. These differences include epigenetic memory and aberrations that emerge during reprogramming, for which the mechanisms remain unknown.

Long-Range Interface Effects in Room Temperature Ionic Liquids: Vibrational Lifetime Studies of Thin Films.

Interface effects in the room temperature ionic liquids (RTILs) 1-butyl-3-methylimidazolium tetrafluoroborate (BmimBF) and 1-butyl-3-methylimidazolium bis(trifluoromethylsulfonyl)imide (BmimNTf) were investigated using ultrafast infrared polarization selective pump-probe (PSPP) spectroscopy. The CN stretch mode of SCN dissolved in the RTILs was used as the vibrational probe. The vibrational lifetime of the SCN was the experimental observable.