Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.

Tay-Sachs disease is a neurodegenerative disorder characterized by progressive neurologic impairment due to pathogenic variants in the gene that codes for the alpha subunit of β-hexosaminidase. We report 2 cases of adult-onset progressive weakness, ataxia, and neuropsychiatric symptoms in a 30-year-old man and 37-year-old woman. Both patients had compound heterozygosity in the gene with 4 distinct variants.

Enhancing Disaster Preparedness Through Tabletop Disaster Exercises: A Scoping Review of Benefits for Health Workers and Students.

Background: Tabletop Disaster Exercise (TDE) is a unique learning method through simulation designed to improve disaster preparedness. It is used every year to train health workers and students in disaster preparedness. However, no review has summarized the potential of TDE.

Chickpea displays a temporal growth response to Mesorhizobium strains under well-watered and drought conditions.

The relative performance of rhizobial strains could depend on their resource allocation, environmental conditions, and host genotype. Here, we used a high-throughput shoot phenotyping to investigate the effects of Mesorhizobium strain on the growth dynamics, nodulation and bacteroid traits with four chickpea (Cicer arietinum) varieties grown under different water regimes in an experiment including four nitrogen sources (two Mesorhizobium strains, and two uninoculated controls: nitrogen fertilised and unfertilised) under well-watered and drought conditions. We asked three questions.

Design of a graphene-based chiral trifunctional tunable terahertz metasurface.

Driven by the pressing demand for integration and miniaturization within the terahertz (THz) spectrum, this research introduces an innovative approach to construct chiral structures using dichroism as the target function. This initiative aims to tackle the prevalent issues of single-functionality, narrow application scope, and intricate design in conventional metasurfaces. The proposed multifunctional tunable metasurface employs a graphene-metal hybrid structure to address the critical constraints found in existing designs.

Interstitial Doping in Ultrafine Nanocrystals for Efficient and Durable Water Splitting.

Transition metal-based catalysts with high efficiency and stability for overall water splitting (OWS) offer significant potential for reducing green hydrogen production costs. Utilizing sputtering deposition technology, we propose a deposition-diffusion strategy to fabricate heterojunction coatings composed of ultrafine FeCoNi-C-N transition metal interstitial solid solution (TMISS) nanocrystals and amorphous nitrided carbon (NC) on the pre-deposited NC micro column arrays. The diffusion of C and N atoms results in the formation of uniformly distributed TMISS nanocrystals, with an average diameter of ~1.

Challenges in Care Provision for Children and Adolescents With Differences of Sex Development.

Objectives: The ideal model of care for individuals with Differences of Sex Development (DSD) continues to evolve, with multiple models proposed. This study aimed to explore current care models for individuals with DSD in Australia and New Zealand (NZ) and to identify clinician perceptions of gaps and barriers in current practice.

Methods: Cross-sectional anonymous online questionnaire, conducted via Research Electronic Data Capture (REDCap) software.

Exploring the Nutrition Care Journey of People Living With Obesity in Acute Care.

Background: Recent studies show a high prevalence in hospital populations and best practice evidence indicates that people living with obesity should receive dietetic advice. However, patients often do not receive this care in acute settings. Understanding the experiences of people living with obesity is crucial to designing successful strategies for management.

Identifying genetic differences between bipolar disorder and major depression through multiple genome-wide association analyses.

Background: Accurate diagnosis of bipolar disorder (BPD) is difficult in clinical practice, with an average delay between symptom onset and diagnosis of about 7 years. A depressive episode often precedes the first manic episode, making it difficult to distinguish BPD from unipolar major depressive disorder (MDD).

Aims: We use genome-wide association analyses (GWAS) to identify differential genetic factors and to develop predictors based on polygenic risk scores (PRS) that may aid early differential diagnosis.

Conservation genomics within government led conservation planning: an Australian case study exploring cost and benefit for threatened flora.

The importance of conserving plant genetic diversity has been recognised since the 1980's, but genetic research tools for improving conservation remain largely absent from standard planning. Using an Australian case study framework of the New South Wales Government's Saving our Species program, we outline the costs and benefits associated with conducting genomic analysis within a conservation strategy to inform for example, taxonomic resolution, targeted monitoring, translocations and ex situ collections. Despite a reported sentiment that costs are prohibitive, our study identified that where genetics reports have been provided (32 to date), the cost of genetic sampling, analysis and advice is less than 10% of the total Government investment (SoS program) and will continue decreasing proportionally throughout the years as other management occurs.

Recent advances in HPV biotechnology: understanding host-virus interactions and cancer progression - a review.

Cervical cancer ranks as the fourth most common cancer among women globally, posing a significant mortality risk. Persistent infection with high-risk human papillomavirus (HPV) is the primary instigator of cervical cancer development, often alongside coinfection with other viruses, precipitating various malignancies. This study aimed to explore recent biotechnological advances in understanding HPV infection dynamics, host interactions, and its role in oncogenesis.

Conceptualising Centres of Clinical Excellence: A Scoping Review.

Objectives: Centres of clinical excellence (CoCE) are healthcare facilities that provide excellent healthcare. However, despite their increasing prevalence, it is unclear how CoCE are identified and monitored. This paper explores how CoCE has been described in the literature, including its defining characteristics and selection and monitoring processes.

Understanding the scale and nature of avoidable healthcare-associated harm for prisoners in England: protocol for a retrospective cross-sectional study.

Introduction: Around 1 in 20 patients experience avoidable healthcare-associated harm worldwide. Despite longstanding concerns, there is insufficient information available about the safety of healthcare for prisoners. To address this, this study will investigate the scale and nature of avoidable healthcare-associated harm for prisoners in England.

Feasibility and acceptability of multiple methods of recording injecting drug use episode data among people who inject drugs in Melbourne, Australia: a pilot evaluation study protocol.

Introduction: Opioid overdose and blood-borne virus transmission are key health risks for people who inject drugs. Existing study methods that record data on injecting drug risks mostly rely on retrospective self-reporting that, while valid, are limited to being broad and subject to recall bias. The In-The-Moment-Expanded (ITM-Ex) study will evaluate the feasibility and acceptability of multiple novel data collection methods to capture in situ drug injecting data.

Incidence of cancer-related lymphoedema: a protocol for a living systematic review with meta-analysis.

Introduction: Given the projected rise in the incidence of cancer treatment-related conditions, such as lymphoedema, and the limited research on lymphoedema in cancers with poor prognoses, there is a need for a better understanding of cancer-related lymphoedema incidence and associated risk factors across all types of cancers. The objectives of this review are (1) to produce a resource on an open-access platform that facilitates continuous update of incidence estimates and risk factors as evidence emerges, (2) to provide the most up-to-date estimate of the incidence of cancer-related lymphoedema and (3) to evaluate the strength and consistency of the association between lymphoedema and cancer treatment and non-treatment-related risk factors.

Methods And Analysis: A living systematic and grey literature search will be conducted to identify studies reporting the incidence, prevalence of lymphoedema or associated risk factors in individuals who have undergone treatment for any type of cancer.

Multicentre study conducted across centres in the USA, Europe and Australia to assess the safety and effectiveness of a bilateral hypoglossal nerve stimulation system for the treatment of obstructive sleep apnoea in adults: a protocol for a pivotal, multicentre, open-label, single-arm study.

Introduction: Obstructive sleep apnoea (OSA) is characterised by blood oxygen desaturations and sleep disruptions manifesting undesirable consequences. Existing treatments including oral appliances, positive airway pressure (PAP) therapy and surgically altering the anatomy of the pharynx have drawbacks including poor long-term adherence or often involving irreversible, invasive procedures. Bilateral hypoglossal nerve stimulation (HNS) is a new treatment for managing OSA, and this study is intended to determine whether an HNS system is a safe and effective treatment option for adults with OSA.

What are the general public's expectations about the likely duration of common acute infections? A cross-sectional survey of Australian residents.

Objectives: To explore the general public's expectations about the likely duration of acute infections that are commonly managed in primary care and if care is sought for these infections, reasons for doing so.

Design: A cross-sectional online survey.

Participants: A nationwide sample of 589 Australian residents, ≥18 years old with representative quotas for age and gender, recruited via an online panel provider.

Performance Understanding and Learning System (PULSE-KEY): development of a framework for implementation and performance evaluation of healthcare delivery models of care.

Objectives: Efficient performance evaluation is essential for driving improvement, ensuring accountability and optimisation of outcomes in healthcare delivery. However, its complexity often leads to ineffective implementation. This article aims to advance the field of performance measurement within alternative healthcare delivery models of care through the development and validation of a comprehensive evaluation framework.

Voice of the nurse in paediatric intensive care: a scoping review.

Objectives: The objective was to explore how the voice of the nurse in paediatric intensive care units (PICU) is portrayed in the literature.

Design: Scoping review using the six-step scoping review framework outlined by Arksey and O'Malley.

Data Sources: PubMed, Nursing (OVID), Medline (OVID), CINHAL (EBSCO), SCOPUS and Web of Science online databases.

Move to improve - Prescribing physical activity and deprescribing paracetamol for low back pain: Protocol for a hybrid type III feasibility study.

Introduction: People experiencing low back pain (LBP) could potentially benefit from multimedia educational resources that integrate self-management strategies and improve awareness of the benefits of staying active and about medications that offer limited benefits, such as paracetamol. Primary care waiting rooms are potential spaces for presenting health promotion resources to improve health literacy through the dissemination of easily accessible health information. This feasibility study aims to explore the feasibility of conducting a large-scale trial to investigate the benefits of multimedia educational resources delivered at outpatient physiotherapy waiting rooms of public hospitals to support patients to participate in physical activity and reduce paracetamol intake for LBP.

Scoping review of veterans' disclosure of mental health concerns or medical conditions in the workplace and other settings: study protocol.

Introduction: Veterans deal with 'unobservable' medical or mental health conditions, such as post-traumatic stress disorder, at higher rates than the general population. Disclosure of such conditions is important to provide social, emotional, medical and mental health support, but veterans may face challenges when deciding whether to disclose conditions, including fear of stigma or discrimination. Safe disclosure in the workplace is particularly important, as it allows employees to gain accommodations and enables employers to manage workplace health and safety effectively.

Impact of alternative diagnostic labels for melanoma in situ on management choices and psychological outcomes: protocol for an online randomised study.

Introduction: A diagnosis of melanoma in situ presents negligible risk to a person's lifespan or physical well-being, but existing terminology makes it difficult for patients to distinguish these from higher risk invasive melanomas. This study aims to explore whether using an alternative label for melanoma in situ may influence patients' management choices and anxiety levels.

Methods And Analysis: This study is a between-subjects randomised online experiment, using hypothetical scenarios.

Protocol for a multisite randomised controlled trial assessing the effect of the Telehealth for Early Developmental Intervention in babies born very preterm (TEDI-Prem) programme on neurodevelopmental outcomes and parent well-being.

Introduction: Infants born very preterm (VPT, <32 weeks' gestation) are at increased risk for neurodevelopmental impairments including motor, cognitive and behavioural delay. Parents of infants born VPT also have poorer mental health outcomes compared with parents of infants born at term.We have developed an intervention programme called TEDI-Prem (Telehealth for Early Developmental Intervention in babies born very preterm) based on previous research.