Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program.

Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments-such as neonatal and pediatric intensive care units-are characterized by urgency, complexity, and rapid decision making. These settings require GCs to navigate a delicate balance between addressing the immediate clinical needs of patients and providing comprehensive genetic information to families, while demanding adaptation of existing skills for practice.

A mixed-methods assessment of the Australasian Society of Genetic Counselors (ASGC) Mentor Program.

Purpose: In Australia and New Zealand, one third of genetic counselors have less than 5 years' experience. Sharing experienced practitioners' professional knowledge is needed as the profession grows. Formal mentoring is an important facilitator of career progression and shared knowledge.

Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand.

Purpose: To understand diversity, inclusion, and capacity of genetic counselors (GCs) in Australasia (Australia and New Zealand).

Methods: Individuals with or working toward a GC qualification in Australasia were invited to complete an online survey, between November 2022 and March 2023. Quantitative data were analyzed using descriptive statistics, 1-sample proportion -tests, 2-sample -tests, and χ tests.

Outcomes and management of invasive procedures in participants with hemophilia A post gene therapy: a post hoc analysis of the GENEr8-1 phase III trial.

Background: Hemophilia A is caused by coagulation factor VIII (FVIII) deficiency and increases bleeding risk during invasive procedures.

Objectives: To investigate FVIII concentrate use and bleeding outcomes for invasive procedures after valoctocogene roxaparvovec gene transfer.

Design: This manuscript presents post hoc analysis of the phase III GENEr8-1 trial.

A circumpolar review of the breeding distribution and habitat use of the snow petrel (), the world's most southerly breeding vertebrate.

Knowledge of the spatial distribution of many polar seabird species is incomplete due to the remoteness of their breeding locations. Here, we compiled a new database of published and unpublished records of all known snow petrel breeding sites. We quantified local environmental conditions at sites by appending indices of climate and substrate, and regional-scale conditions by appending 30 year mean (1992-2021) sea-ice conditions within accessible foraging areas.

Auditory and Speech Outcomes Following Transcutaneous Bone Conduction Hearing Implantation.

Objectives: Implantable bone conduction hearing devices offer excellent auditory rehabilitation. Transcutaneous devices, which use an implanted magnet, are gaining popularity due to higher skin complications associated with traditional percutaneous devices. The Cochlear Baha® Attract System (Cochlear Corporation, Sydney, Australia) is a transcutaneous device and is regarded as a passive transcutaneous implant.

Scoping Review of Virtual Reality (VR)-Based Disaster Mitigation Education.

This study explored the use of virtual reality (VR) in disaster preparedness education, focusing on VR scenarios, disaster types, and user interactivity to identify gaps in existing research. A scoping review methodology, based on the Arksey and O'Malley framework and Preferred Reporting Items for Systematic Reviews and Meta-Analyses-Scoping Reviews (PRISMA-ScR) guidelines, was used, and the protocols were registered in the UMIN Clinical Trials Registry (UMIN000052800). The review included PubMed, CINAHL, the Cochrane Central Register of Controlled Trials in the Cochrane Library, and Ichushi-Web of the Japan Medical Abstract Society, with data up to January 31, 2024.

A retrospective review of sildenafil in the Australia and New Zealand Fontan registry: indications and treatment responses.

Introduction: Rates of morbidity and mortality are high in the setting of Fontan physiology and effective medical therapies are not well-established. Clinical trials assessing phosophodiesterase-5-inhibitors, such as sildenafil, have not demonstrated major benefit in patients with a Fontan-type circulation but have only included stable, well-functioning people.

Methods: We sought to retrospectively characterize the people followed by the ANZ Fontan Registry prescribed sildenafil >30 days post Fontan-surgery.

Improved complexity stratification in congenital heart disease; the impact of including procedural data on accuracy and reliability.

Background: In order to manage a class of diseases as broad as congenital heart disease (CHD), multiple "manually generated" classification systems defining CHDs as mild, moderate and severe have been developed and used to good effect. As databases have grown, however, such "manual" complexity scoring has become infeasible. Though past attempts have been made to determine CHD complexity algorithmically using a list of diagnoses alone, missing data and lack of procedural information have been significant limitations.

Transition experiences of adolescents and young adults working with a patient navigator.

Introduction: The transition from pediatric to adult care poses challenges for adolescents and young adults (AYA) with chronic conditions and their caregivers. A patient navigator (PN) intervention may mitigate transition-related barriers.

Methods: A qualitative study was conducted within a pragmatic randomized controlled trial.

Interaction between Uranyl Cations and Layered Double Hydroxide Nanoparticles: Implications for Nuclear Wastewater Management.

Effective uranium (U) capture is required for the remediation of contaminated solutes associated with the nuclear fuel cycle, including fuel reprocessing effluents, decommissioning, or nuclear accident cleanup. Here, interactions between uranyl cations (UO ) and a Mg-Al layered double hydroxide (LDH) were investigated using two types of uranyl-bearing LDH colloids. The first (ULDH) was synthesized by coprecipitation with 10% of Mg substituted by UO .

Exploring social determinants and hepatocellular carcinoma: a scoping review of evidence and implications.

Background: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related deaths worldwide. Social determinants of health (SDH) significantly impact HCC outcomes, yet comprehensive insights into these effects are lacking. This scoping review aimed to examine the influence of SDH on HCC outcomes.

Relationship Between Criminal and Status Offense Behaviors, Substance Use, and HIV Risk Among Adolescent Girls and Young Women in Cape Town, South Africa.

This study aimed to examine the relationship between externalizing behaviors, substance use, and sexual risk among adolescent girls and young women (AGYW) in Cape Town, South Africa, who experience social disadvantage characterized by poverty and school dropout. We analyzed baseline data from 500 AGYW in a cluster-randomized trial who had dropped out of school. Multivariate logistic regression models explored associations between self-reported criminal behaviors and other status offenses, heavy episodic drinking, polydrug use, and condomless sex.

Topological mechanical states in geometry-driven hyperuniform materials.

Disordered hyperuniform materials are increasingly drawing attention due to their unique physical properties, associated with global isotropy and locally broken orientational symmetry, that set them apart from traditional crystalline materials. Using a dynamic space-partitioning process, we generate disordered hyperuniform cellular structures where distinct patterns of pentagonal and heptagonal topological defects emerge within hexagonal domains. The microscopic defect dynamics are guided by local topological transitions, commonly observed in viscoelastic systems.

The impact of glucose metabolism on inflammatory processes in sepsis-induced acute lung injury.

Acute lung injury (ALI) is a prevalent and critical complication of sepsis, marked by high incidence and mortality rates, with its pathogenesis still not being fully elucidated. Recent research has revealed a significant correlation between the metabolic reprogramming of glucose and sepsis-associated ALI (S-ALI). Throughout the course of S-ALI, immune cells, including macrophages and dendritic cells, undergo metabolic shifts to accommodate the intricate demands of immune function that emerge as sepsis advances.

The Efficacy of Biodegradable Temporising Matrix for Upper Limb Reconstruction: A Systematic Review and Meta-Analysis.

The objective of this systematic review and meta-analysis is to assess the efficacy of the biodegradable temporising matrix (BTM) (NovoSorb; PolyNovo Biomaterials Pty Ltd, Port Melbourne, Victoria, Australia) in the reconstruction of complex upper extremity wounds. The authors conducted a systematic review and meta-analysis as per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines assessing the efficacy of BTM in complex upper extremity wound reconstruction. The primary outcome measures were successful BTM integration and the proportion of wounds healed.

Revolutionising Anatomy Education: The Current Role of Digital Technologies in Enhancing Anatomy Learning for Undergraduate Medical Students.

Anatomy education, which forms the cornerstone of today's medical education, has traditionally centered on cadaveric dissections and prosections as its core teaching methods. However, these methods present with challenges, including student anxiety, nausea, and limited cadaver availability. Recent advancements in digital technologies have led to the proliferation of innovative learning tools, introducing novel and transformative approaches to enhance anatomy education.

COVID-19 highlights the need to improve resilience and equity in managing small-scale fisheries.

The COVID-19 pandemic exposed the fragility of global and domestic seafood markets. We examined the main impacts and responses of the small-scale fisheries (SSF) sector, and found that mitigation and preparedness strategies should be prioritised to boost resilience in SSF. We provide five policy options and considerations: (1) improving access to insurance and financial services; (2) strengthening local and regional markets and supporting infrastructure; (3) recognising fisheries as an essential service; (4) integrating disaster risk management into fisheries management systems; and (5) investing in Indigenous and locally-led fisheries management.

Deriving fontan-specific normative exercise data from well-functioning adolescents.

Background: Exercise capacity is reduced in patients with a Fontan circulation compared to their healthy peers secondary to altered haemodynamics of the Fontan circulation. Cardiopulmonary exercise testing is routinely used in Fontan patients to assess their cardiopulmonary response to exercise and help guide management decisions, however their results are routinely compared to normative data derived from healthy individuals.

Method: Using data available from the Pediatric Heart Network, we performed a retrospective study to derive Fontan-specific normative values in a subgroup of well-functioning adolescent patients.

The latest definition and classification of pulmonary hypertension.

Pulmonary hypertension (PH) is a serious potential complication of some congenital heart diseases (CHDs). PH encompasses a range of diseases which may be idiopathic or inherited, or secondary to cardiac, respiratory, systemic or thromboembolic conditions, amongst others. Our increasing understanding of the normal ranges of pulmonary haemodynamics, as well as evidence supporting the benefits of early treatment, has resulted in a number of recent revisions to the haemodynamic definition of PH.

A national Australian Congenital Heart Disease registry; methods and initial results.

Background: Although several National Data Registries for Congenital Heart Disease (CHD) exist, few are comprehensive and contemporary. A National Australian CHD Registry has been developed that aims to redress this by creating the first comprehensive data collection for CHD children and adults, initially across Australia.

Methods: We defined and collected a minimum dataset of demographics, diagnoses, and procedures from people with CHD presenting at participating quaternary CHD services Australia-wide.

Network Meta-Analysis and Trial Sequential Analysis of Randomised Controlled Trials Comparing Robotic, Laparoscopic, and Open Pancreatoduodenectomy.

Background: The use of minimally invasive (laparoscopic and robotic) pancreatoduodenectomy (PD) is being increasingly adopted despite the lack of hard evidence to support its utilisation. With recent randomised controlled trials (RCTs) comparing open pancreatoduodenectomy (OPD) with robotic or laparoscopic pancreatoduodenectomy (RPD or LPD), we undertook a network meta-analysis (NMA) comparing all 3 approaches to evaluate comparative outcomes.

Methods: A systematic search of MEDLINE, EMBASE, and Cochrane CENTRAL was conducted up to May 2024 and relevant RCTs were identified.

The Perioperative NonaGEnaRIan And cenTenarian suRgICal (GERIATRIC) Risk Stratification Tool.

Objective: To develop age-appropriate nonaGEnaRIan And cenTenarian suRgICal (GERIATRIC) risk tool for classifying patients who may or may not develop postoperative complications or die within their index hospital admission.

Background: There are no validated perioperative risk stratification tools for use in nonagenarian and centenarian patients-people aged 90 to 99 years and >100 years.

Methods: In this retrospective observational study, nonagenarians and centenarians undergoing any surgical procedure were profiled.

Iron as a Sulfidation-Resistant Current Collector for Negative Electrode in Sulfide-Based All-Solid-Batteries.

The demand for all-solid-state batteries (ASSBs) featuring credible LiPSCl argyrodite (LPSCl) electrolytes is increasing, driving interest in exploring suitable current collectors for ASSBs. Copper (Cu), used as a current collector in traditional lithium-ion batteries, exhibits significant instability in LPSCl-ASSBs. In this study, the effectiveness of iron (Fe) is systematically investigated as an alternative current collector in LPSCl-ASSBs and compare its performance to that of Cu.

Co-pathologies modify hippocampal protein accumulation patterns in neurodegenerative diseases.

Introduction: Limited research has extensively analyzed neurodegenerative disease-related protein deposition patterns in the hippocampus.

Methods: This study examined the distribution of proteins in hippocampal subregions across major neurodegenerative diseases and explored their relation to each other. The area density of phosphorylated tau (p-tau), amyloid beta (Aβ), α-synuclein, and phosphorylated TDP-43 protein deposits together with pyramidal cell density in each hippocampal subregion, including CA1-4, prosubiculum (ProS), and subiculum was assessed in 166 cases encompassing various neurodegenerative diseases.