The joint memory effect: challenging the selfish stigma in Huntington's disease?

The prevalent belief that individuals with Huntington's disease exhibit selfish behaviour, disregarding the thoughts, feelings and actions of others, has been challenged by patient organizations and clinical experts. To further investigate this issue and study whether participants with Huntington's disease can pay attention to others, a joint memory task was carried out in patients with Huntington's disease with and without a partner. This study involved 69 participants at an early stage of Huntington's disease and 56 healthy controls from the UK, France and Germany, who participated in the international Repair-HD multicentre study (NCT03119246).

Salvage Total Hip Replacement for Failed Proximal Femoral Fracture Fixation.

Introduction: Salvage arthroplasty for failed proximal femoral fracture fixation is a complex procedure. This involves the removal of the primary failed or broken implant followed by a hip joint replacement procedure. The complications and technical difficulties associated with these surgeries are often difficult to anticipate.

A review of clopidogrel resistance in lower extremity arterial disease.

Objective: Lower extremity arterial disease (LEAD) is a prevalent condition that produces a significant burden on health care systems. Patients with LEAD have an increased risk of major adverse cardiovascular events as well as major adverse limb events. Despite significant variation in guidance on antiplatelet therapy for LEAD worldwide, many governing bodies recommend clopidogrel as the preferred single anti-platelet agent.

Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.

Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.

Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.

Bullying, Harassment, and Undermining Behaviour in Cardiothoracic Surgery in the United Kingdom and Ireland.

Background: Bullying, harassment, and undermining behaviour has a profound detrimental effect on the multi-professional team, patient safety, and clinical outcomes. Bullying creates a poor working and training environment , increasing stress, damaging confidence, and impairing wellbeing. We sought to characterize the prevalence and nature of bullying, harassment and undermining within cardiothoracic surgery in the United Kingdom and Republic of Ireland.

Citric acid is more effective than sodium thiosulfate in chelating calcium in a dissolution model of calcinosis.

Calcinosis cutis affects 20-40% of patients with systemic sclerosis. This study tests the hypothesis that calcium-chelating polycarboxylic acids can induce calcium dissolution without skin toxicity or irritancy. We compared citric acid (CA) and ethylenediaminetetraacetic acid (EDTA) to sodium thiosulfate (STS) for their ability to chelate calcium in vitro using a pharmaceutical dissolution model of calcinosis (hydroxyapatite (HAp) tablet), prior to evaluation of toxicity and irritancy in 2D in vitro skin models.

Decoding community-acquired pneumonia: a systematic review and analysis of diagnostic criteria and definitions used in clinical trials.

Background: Community-acquired pneumonia (CAP) is a frequent and potentially life-threatening condition. Even though the disease is common, evidence on CAP management is often of variable quality. This may be reinforced by the lack of a systematic and homogeneous way of defining the disease in randomized controlled trials (RCTs).

Development and Validation of a Rapid Point-of-Care CYP2C19 Genotyping Platform.

Pharmacogenetic-guided prescribing can lead to more accurate medicine selection and dosing, improving patient outcomes and leading to better use of health care budgets. Loss-of-function variants in CYP2C19 influence an individual's ability to metabolize clopidogrel, increasing the risk of secondary vascular events following ischemic stroke and percutaneous coronary intervention. In acute clinical contexts, centralized laboratory-based testing is too slow to inform timely clinical decision-making.

A Pooled Pharmacokinetic Analysis for Piperacillin/Tazobactam Across Different Patient Populations: From Premature Infants to the Elderly.

Background And Objectives: The pharmacokinetics (PK) of piperacillin/tazobactam (PIP/TAZ) is highly variable across different patient populations and there are controversies regarding non-linear elimination as well as the fraction unbound of PIP (f). This has led to a plethora of subgroup-specific models, increasing the risk of misusing published models when optimising dosing regimens. In this study, we aimed to develop a single model to simultaneously describe the PK of PIP/TAZ in diverse patient populations and evaluate the current dosing recommendations by predicting the PK/pharmacodynamics (PD) target attainment throughout life.

Pharmacogenomics: DPYD and Prevention of Toxicity.

In 2020, the introduction of pre-emptive DPYD genotyping prior to the administration of systemic fluoropyrimidine-based chemotherapy represented one of the first widespread pharmacogenetic testing programmes to be applied nationally in the United Kingdom. Pharmacogenetic variants in the DPYD gene found in between 3 and 6% of the population are a recognised cause of primary DPD enzyme deficiency and associated increased risk of severe fluoropyrimidine toxicity [1]. Yet, the availability of testing globally is heterogeneous.

Factors That Determine the Outcomes of Surgical Versus Conservative Management in Achilles Tendon Ruptures: A Retrospective Cohort Study.

Introduction: Achilles tendon rupture is the most commonly ruptured tendon in humans. Recent evidence suggests no significant differences in long-term functional outcomes between conservative and surgical management. Conservative treatment carries a higher risk of re-rupture, while surgical management presents risks such as wound infections and sural nerve damage.

Repetitive Calf-Raise Pulse Provocative Test for Popliteal Artery Entrapment Syndrome.

Popliteal artery entrapment syndrome (PAES) is a rare cause of exertional leg pain in young adults, which is caused by compression of the popliteal artery by the surrounding muscular structure. Due to significant overlap in symptoms with other conditions, limitations of diagnostic imaging, and lack of awareness, PAES is frequently misdiagnosed, resulting in late complications and poor prognosis. Clinical assessment is crucial in making the initial diagnosis and referring for relevant investigations for PAES.

The Christie score for post-treatment response assessment PET/CT in patients with head and neck squamous cell carcinoma: a safe and simple scoring system.

Background: Radiotherapy with or without concurrent chemotherapy is a standard of care treatment for patients with head and neck squamous cell carcinoma (HNSCC). Upon completion, patients are referred for a post-treatment F-FDG PET/CT (Fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography) scan to help guide ongoing management by assessing for the presence or absence of residual or recurrent disease and differentiating this from post-treatment inflammation. To improve objective reporting of response, we developed the Christie score.

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.

Mechanical circulatory support for high-risk surgical aortic valve and ascending aortic replacement in severe bicuspid aortic valve stenosis: a case series.

Background: Bicuspid aortic valve (BAV) is the most common congenital heart defect (reported incidence of 0.5%-2%) and is commonly associated with proximal aortic dilation. Patients with severe aortic stenosis (AS) of BAV have been shown to have worse pre-operative left ventricular (LV) function as well as a higher incidence of post-operative heart failure hospitalization when compared with analogous patients with tri-leaflet aortic valve disease.

The global status of genetic counselors in 2023: What has changed in the past 5 years?

Purpose: The profession of genetic counselors has existed for over 50 years. This article provides an update on the global state of the genetic counseling (GC) profession in 2022 and 2023.

Methods: We used a survey approach to collect data from individuals who were identified as being leaders in GC practice and/or education around the world.

Preliminary evidence that self-incentives uniquely promote smoking cessation in incarcerated populations: A pilot randomized controlled trial.

Introduction: Smoking prevalence rates in prison are typically four times higher than the rates found within community-based settings, increasing premature mortality. Encouraging smokers to self-administer incentives contingent on abstinence (i.e.

Prospective evaluation of lung cancer screening eligibility criteria and lung cancer detection in the Yorkshire Lung Screening Trial.

Introduction: Low dose CT (LDCT) screening for lung cancer reduces lung cancer mortality, but there is a lack of international consensus regarding the optimal eligibility criteria for screening. The Yorkshire Lung Screening Trial (YLST) was designed to evaluate lung cancer screening (LCS) implementation and a primary objective was prospective evaluation of 3 pre-defined eligibility criteria.

Methods: Individuals who had ever smoked, aged 55-80yrs, who responded to written invitation, underwent telephone risk assessment and if eligible by at least one criteria (PLCO≥1.

DNA damage in prepared semen is negatively associated with semen quality and fertilisation rate in assisted reproduction technology (ART) treatment.

Sperm DNA contains strand breaks and base damage that can potentially affect reproductive health. This study aims to determine to what extent sperm DNA integrity and alkylation is associated with semen quality and assisted reproduction technology (ART) treatment outcomes, in particular fertilisation and cleavage rates. Male partners of couples attending for infertility treatment were recruited.

HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.

Background: The Human Genome Variation Society (HGVS) Nomenclature is the global standard for describing and communicating variants in DNA, RNA, and protein sequences in clinical and research genomics. This manuscript details recent updates to the HGVS Nomenclature, highlighting improvements in governance, community engagement, website functionality, and underlying implementation of the standard.

Methods: The HGVS Variant Nomenclature Committee (HVNC) now operates under the Human Genome Organization (HUGO), facilitating broader community feedback and collaboration with related standards organizations.

Evaluation of effect of cooled haemodialysis on cognition in patients with end-stage kidney disease (ECHECKED) feasibility randomised controlled trial results.

Background: Cognitive impairment is common in haemodialysis patients with no known beneficial interventions. Cooler dialysate slows brain white-matter changes, but its effect on cognition is unknown. This feasibility trial was performed to inform a fully-powered, randomised trial to assess this.