Distinct virologic trajectories in chronic hepatitis B identify heterogeneity in response to nucleos(t)ide analogue therapy.

Background & Aims: The dynamics of HBV viral load (VL) in patients with chronic hepatitis B (CHB) on nucleos(t)ide analogue (NA) treatment and its relationship with liver disease are poorly understood. We aimed to study longitudinal VL patterns and their associations with CHB clinical outcomes.

Methods: Utilising large scale, routinely collected electronic health records from six centres in England, collated by the National Institute for Health and Care Research Health Informatics Collaborative (NIHR HIC), we applied latent class mixed models to investigate VL trajectory patterns in adults receiving NA treatment.

The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).

Background: The NHS Jewish BRCA Testing Programme is offering germline and genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi Jewish (AJ) founder germline pathogenic variant (gPV) compared with the general population.Testing is offered via a self-referral, home-based saliva sampling pathway, supported by a genetic counsellor telephone helpline.

Influence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents.

Aims: Sudden arrhythmic death syndrome (SADS) refers to a sudden death, which remains unexplained despite comprehensive post-mortem examination and a toxicological screen. We aimed to investigate the impact of age and sex on the overall diagnostic yield and underlying aetiology in decedents with SADS using a combined approach of familial evaluation (FE) and molecular autopsy (MA).

Methods And Results: Consecutive referrals to a single centre for FE only, MA only or both, following a SADS death were included.

Management of adult sepsis in resource-limited settings: global expert consensus statements using a Delphi method.

Purpose: To generate consensus and provide expert clinical practice statements for the management of adult sepsis in resource-limited settings.

Methods: An international multidisciplinary Steering Committee with expertise in sepsis management and including a Delphi methodologist was convened by the Asia Pacific Sepsis Alliance (APSA). The committee selected an international panel of clinicians and researchers with expertise in sepsis management.

Segmental MRI pituitary and hypothalamus volumes post Fontan: An analysis of the Australian and New Zealand Fontan registry.

Objective: Short stature, central hypothyroidism and infertility are common in those with a Fontan circulation. Given that the Fontan circulation often results in hepatic portal venous congestion, we hypothesize that the hypothalamic-pituitary portal circulation is also affected, contributing to subsequent hypothalamic-pituitary axis dysfunction.

Methods: MRI data from the Australian and New Zealand Fontan Registry (86 cases) was compared to 86 age- and sex-matched normal published controls.

Genetic counseling development and milestone in Oman.

Genetic counseling as an emerging profession has seen an expansion around the world. In the Sultanate of Oman, the profession has developed with the establishment of clinical and biochemical genetic services in 2010 and genetic counseling services in 2011. Currently, 3 main genetic counseling teams serve the country through qualified genetic counselors who completed internationally recognized MSc program.

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.

The Outcome of the Use of Continuous Action Compression Device for the First Metatarsophalangeal Joint Fusion.

Introduction: First metatarsophalangeal (MTP) joint fusion is a widely accepted surgical intervention for treating severe arthritis, deformities, and instability of the first MTP joint. This paper provides a review of a single surgeon's experience with continuous compression implants (CCI), which offer a notable advantage by providing uniform compression across a larger surface area of the fusion site compared to plate and screw constructs. This design potentially reduces soft tissue irritation and, consequently, the need for subsequent implant removal.

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.

Bridging Distances and Enhancing Care: A Comprehensive Review of Telemedicine in Surgery.

Telemedicine in surgical care has undergone rapid advancements in recent years, leveraging technologies such as telerobotics, artificial intelligence (AI) diagnostics, and wearable devices to facilitate remote evaluation and monitoring of patients. These innovations have improved access to care, reduced costs, and enhanced patient satisfaction. However, significant challenges remain, including technical barriers, limited tactile feedback in telesurgery, and inequities arising from digital literacy and infrastructure gaps.

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.

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.

Triangulating evidence from the GALENOS living systematic review on trace amine-associated receptor 1 (TAAR1) agonists in psychosis.

Background: Trace amine-associated receptor 1 (TAAR1) agonists offer a new approach, but there is uncertainty regarding their effects, exact mechanism of action and potential role in treating psychosis.

Aims: To evaluate the available evidence on TAAR1 agonists in psychosis, using triangulation of the output of living systematic reviews (LSRs) of animal and human studies, and provide recommendations for future research prioritisation.

Method: This study is part of GALENOS (Global Alliance for Living Evidence on aNxiety, depressiOn and pSychosis).

The importance of microbiology reference laboratories and adequate funding for infectious disease surveillance.

Microbiology reference laboratories perform a crucial role within public health systems. This role was especially evident during the COVID-19 pandemic. In this Viewpoint, we emphasise the importance of microbiology reference laboratories and highlight the types of digital data and expertise they provide, which benefit national and international public health.

Global, regional, and national age-sex-specific burden of diarrhoeal diseases, their risk factors, and aetiologies, 1990-2021, for 204 countries and territories: a systematic analysis for the Global Burden of Disease Study 2021.

Background: Diarrhoeal diseases claim more than 1 million lives annually and are a leading cause of death in children younger than 5 years. Comprehensive global estimates of the diarrhoeal disease burden for specific age groups of children younger than 5 years are scarce, and the burden in children older than 5 years and in adults is also understudied. We used results from the Global Burden of Diseases, Injuries, and Risk Factors Study 2021 to assess the burden of, and trends in, diarrhoeal diseases overall and attributable to 13 pathogens, as well as the contributions of associated risk factors, in children and adults in 204 countries and territories from 1990 to 2021.

Molecular insights into trauma: A framework of epigenetic pathways to resilience through intervention.

Experiences of complex trauma and adversity, especially for children, are ongoing global crises necessitating adaptation. Bioadaptability to adversity and its health consequences emphasizes the dynamism of adaptation to trauma and the potential for research to inform intervention strategies. Epigenetic variability, particularly DNA methylation, associates with chronic adversity while allowing for resilience and adaptability.

The use of antibiotics in the management of odontogenic facial swellings in children and adolescents: A scoping review.

Objectives: To identify evidence and guidelines relating to the use of antibiotics in the management of odontogenic facial swellings in children and adolescents.

Data: Articles relating to odontogenic facial swellings in children and adolescents aged 0-16 years were included. Articles in which paediatric data could not be differentiated from adult data or where the age of participants were unknown were excluded.

Conducting ethical, co-produced research with autistic individuals with an eating disorder: best practice guidelines.

There is a notable overlap between autism and eating disorders (EDs), and autistic individuals may experience poorer ED treatment outcomes than non-autistic peers. To make meaningful change in this field, it is imperative that we actively engage in co-production of research, however there are currently no guidelines to support co-production with autistic people with eating disorders. This paper reports on best practice guidelines that were co-produced across a series of workshops bringing together autistic people with EDs, researchers, clinicians, third-sector organisations, and parents/carers.

Endpoint Selection in Randomized Clinical Trials for Hypertrophic Cardiomyopathy.

Randomized clinical trials (RCTs) for hypertrophic cardiomyopathy (HCM) have long been challenging caused by the condition's rarity, low event rates, and diverse clinical presentations. However, recent advances in targeted therapies have sparked increased interest in HCM research. Despite this, designing effective RCTs remains complex, particularly in identifying clinically meaningful endpoints.

"FBT Is for the Rich": A Qualitative Study Examining Clinicians' Experiences and Perceptions of Treatment Access and Engagement for Diverse Families in Family-Based Treatment.

Objective: Family-based treatment (FBT) is the leading evidence-based treatment for adolescent eating disorders, but research exploring access and engagement in FBT is sparse. This paper focuses on findings from a broader study, specifically addressing the social determinants of health (SDH) impeding access and engagement in FBT for diverse families (i.e.

Clinical importance of patient-reported outcome measures in severe asthma: results from U-BIOPRED.

Rationale: Knowledge about the clinical importance of patient-reported outcome measures (PROMs) in severe asthma is limited.

Objectives: To assess whether and to what extent asthma exacerbations affect changes in PROMS over time and asthma-specific PROMs can predict exacerbations in adult patients with severe asthma in usual care.

Methods: Data of 421 patients with severe asthma (62% female; mean age 51.