Genetics in relation to cardiac diseases: Implications for general practitioners.

Background: Cardiovascular diseases (CVDs) pose significant global health challenges, with genetics increasingly recognised as a key factor alongside traditional risk factors. This presents an opportunity for general practitioners (GPs) to refine their approaches.

Objective: This article explores the impact of genetics on CVDs and its implications for GPs.

Cardiac murmurs in children.

Background: Approximately 50% of children experience a cardiac murmur at some point in their lives; <1% of these murmurs are attributed to congenital heart disease (CHD). Cardiac murmur might be the first clinical sign of a significant CHD in children. Despite careful routine medical examinations at birth, approximately 50% of CHD cases could remain unrecognised.

Aortic stenosis: Update in monitoring and management.

Background: Aortic stenosis (AS) remains one of the most commonly encountered valvular pathologies. Medical management does not alter the progression of the disease, making assessment of severity and timing of referral for valve replacement the most important aspects of caring for patients with AS.

Objective: To review the contemporary management of AS, including signs and symptoms, echocardiography and decision making in management.

Chest pain.

Background: Chest pain is a common symptom in the community, with underlying causes ranging from benign musculoskeletal pain to life-threatening cardiac events. It is a challenging presentation for healthcare providers, because the aetiology is not always immediately apparent. Chest pain can also cause significant anxiety for patients, leading to increased healthcare utilisation and costs.

Final Results From a Phase I Trial and Expansion Cohorts of Cabozantinib and Nivolumab Alone or With Ipilimumab for Advanced/Metastatic Genitourinary Tumors.

Purpose: Cabozantinib and nivolumab (CaboNivo) alone or with ipilimumab (CaboNivoIpi) have shown promising efficacy and safety in patients with metastatic urothelial carcinoma (mUC), metastatic renal cell carcinoma (mRCC), and rare genitourinary (GU) tumors in a dose-escalation phase I study. We report the final data analysis of the safety, overall response rate (ORR), progression-free survival (PFS), and overall survival (OS) of the phase I patients and seven expansion cohorts.

Methods: This is an investigator-initiated, multicenter, phase I trial.

Increased heart rate fragmentation in those with Williams-Beuren syndrome suggests nonautonomic mechanistic contributors to sudden death risk.

Williams-Beuren syndrome (WBS) is a rare genetic condition caused by a chromosomal microdeletion at 7q11.23. It is a multisystem disorder characterized by distinct facies, intellectual disability, and supravalvar aortic stenosis (SVAS).

Challenges in differential diagnosis and treatment of cervical root resorption vs. root caries.

External cervical root resorption may be occasionally mistaken for root caries and vice versa. Radiographical and clinical differential diagnoses of cervical root resorption and root caries are essential for correct treatment planning and a successful treatment outcome. This article reviews the contemporary literature and summarises the prevailing professional consensus pertaining to external cervical root resorption.

Liquid biopsy to personalize treatment for metastatic prostate cancer.

Liquid biopsy is an innovative approach that provides a more complete understanding of treatment response and prognosis in monitoring metastatic prostate cancer. It complements invasive tissue biopsy and involves the assessment of various biomarkers in body fluids such as blood, semen, and urine. Liquid biopsy analyzes circulating tumor cells, extracellular vesicles, circulating tumor DNA, and the secretome.

Bloom's taxonomy-Can evidence-based teaching improve junior medical officers' knowledge of the mental health and guardianship acts?

Objective: To determine whether a brief educational intervention for Junior Medical Officers (JMOs), using teaching methods aimed at achieving higher outcomes on Bloom's Taxonomy, significantly improved participant confidence and knowledge in decision making about restrictive care.

Method: JMOs received a teaching session on restrictive medical and mental health care. Groups were randomly assigned to either sessions including a component of modern pedagogical interventions (Think-Pair-Share and SNAPPS), or sessions including a control period focusing on reviewing a condensed summary of relevant information.

Pathology requesting in a regional Australian Emergency Department; an observational study comparing current practice with college guidelines.

Introduction: In 2018, the Australasian College for Emergency Medicine (ACEM) and the Royal College of Pathologists of Australasia (RCPA) produced a guideline to encourage appropriate pathology requesting in the Emergency Department (ED).

Objective: To assess adherence to the ACEM/RCPA pathology testing guideline in a regional ED.

Methods, Design, Setting And Participants: This was a retrospective observational study conducted at a regional Australian ED over 7 days.

Gut microbial diversity and functional characterization in people with alcohol use disorder: A case-control study.

Individuals with Alcohol Use Disorder (AUD) typically have comorbid chronic health conditions, including anxiety and depression disorders, increased sleep disruption, and poor nutrition status, along with gut microbial dysbiosis. To better understand the effects of gut dysbiosis previously shown in individuals with AUD, gut microbiome and metabolome were investigated between three cohorts. Two groups of individuals with AUD included treatment-seeking newly abstinent for at least six weeks (AB: N = 10) and non-treatment-seeking currently drinking (CD: N = 9) individuals.

Withdrawal interference scale: a novel measure of withdrawal-related life disruption in opioid use disorder and alcohol use disorder.

describes amplified emotional and motivational withdrawal due to addiction-related sensitization of brain-stress-systems. Hyperkatifeia has been proposed as a target for addiction treatment development. However, translation of basic research in this area will require new tools designed to measure and related phenomena outside of laboratory settings.

Implementing a strategic plan for research.

Effective integration of research within healthcare organisations is recognised to improve outcomes. A research strategy within a hospital Trust in South West England was revised, following the launch of a national Chief Nursing Officer (CNO) strategy that promotes research engagement and activity. The aim was to develop, implement and evaluate this revised strategic plan for research.

Exploring the sustainable impacts of a clinical healthcare research scholarship programme.

Background: The NHS is the first public body globally to commit to net zero.

Aim: This study aimed to explore the environmental sustainability impact of a hospital scholarship programme.

Method: A sustainable quality improvement value framework was used to measure the programme's environmental, social and financial effects.

Designing clinical trials to address alcohol use and alcohol-associated liver disease: an expert panel Consensus Statement.

Most patients with alcohol-associated liver disease (ALD) engage in heavy drinking defined as 4 or more drinks per day (56 g) or 8 (112 g) or more drinks per week for women and 5 or more drinks per day (70 g) or 15 (210 g) or more drinks per week for men. Although abstinence from alcohol after diagnosis of ALD improves life expectancy and reduces the risk of decompensation of liver disease, few studies have evaluated whether treatment of alcohol use disorders will reduce progression of liver disease and improve liver-related outcomes. In November 2021, the National Institute of Alcohol Abuse and Alcoholism commissioned a task force that included hepatologists, addiction medicine specialists, statisticians, clinical trialists and members of regulatory agencies to develop recommendations for the design and conduct of clinical trials to evaluate the effect of alcohol use, particularly treatment to reduce or eliminate alcohol use in patients with ALD.

The role of resilience in the relationship between stress and alcohol.

Stress plays a well-documented role in alcohol consumption and the risk for developing alcohol use disorder. The concept of resilience - coping with and successfully adapting to stressful life experiences - has received increasing attention in the field of addiction research in recent decades, and there has been an accumulation of evidence for resilience as a protective factor against problematic alcohol consumption, risk for alcohol use disorder, disorder severity, and relapse. The conceptual and methodological approaches used in the generation of this evidence vary considerably across investigations, however.

Ensuring accountability for consideration of sex as a biological variable in research.

The National Institute of Health (NIH) policy, Consideration of Sex as a Biological Variable (SABV) in NIH-funded Research (2015), focuses on the expectation that researchers account for the influence of SABV in vertebrate animal and human studies and provide a strong justification for single-sex investigations. When SABV is considered in the research design, data analyses, and reporting, the rigor and reproducibility of the research are elevated and inform best practices and precision health for all people. Additional recommendations include the appropriate use of terminology, integration into curricula, intersection with social determinants of health, and application of sex and gender equity guidelines when disseminating research.

HIV-1 RNA in extracellular vesicles is associated with neurocognitive outcomes.

Human immunodeficiency virus type-1 (HIV-1) is responsible for significant mortality and morbidity worldwide. Despite complete control of viral replication with antiretrovirals, cells with integrated HIV-1 provirus can produce viral transcripts. In a cross-sectional study of 84 HIV+ individuals of whom 43 were followed longitudinally, we found that HIV-1 RNAs are present in extracellular vesicles (EVs) derived from cerebrospinal fluid and serum of all individuals.