Spectrum of hereditary transthyretin amyloidosis due to T60A(p.Thr80Ala) variant in an Irish Amyloidosis Network.

Background: Variant transthyretin amyloidosis (ATTRv) is a hereditary multisystem disorder with clinical spectrum ranging from predominant cardiomyopathy to polyneuropathy. In the Irish population, the T60A mutation has been previously recognised as the most common genotype.

Objectives: The aim of this study is to describe the diagnostic and phenotypic spectrum of patients with T60A ATTRv attending an Irish Expert Amyloidosis Network.

Biological and Medicinal Chemistry Sector of The Royal Society of Chemistry: Promoting Chemistry Learning, Networking and Excellence for Baby Boomers through to Gen Alpha!

The Biological and Medicinal Chemistry Sector (BMCS) is an important interest group within the UK's Royal Society of Chemistry (RSC). Operating through a committee of voluntary members, the main goal of the BMCS is to share knowledge within the sector, primarily by organizing high quality scientific meetings, with a particular focus on networking. Financial support and tailored scientific programmes encourage training and development across multiple generations, from school age through to retirement.

The International Society for Heart and Lung Transplantation (ISHLT): 2024 infection definitions for durable and acute mechanical circulatory support devices.

Infections remain a significant concern in patients receiving mechanical circulatory support (MCS), encompassing both durable and acute devices. This consensus manuscript provides updated definitions for infections associated with durable MCS devices and new definitions for infections in acute MCS, integrating a comprehensive review of existing literature and collaborative discussions among multidisciplinary specialists. By establishing consensus definitions, we seek to enhance clinical care, facilitate consistent reporting in research studies, and ultimately improve outcomes for patients receiving MCS.

Incidence and predictors of anthracycline-related left ventricular dysfunction in acute myeloid leukemia.

Introduction: Anthracycline-related left ventricular dysfunction (ARLVD) is a concern in patients with acute myeloid leukemia (AML) undergoing anthracyclinecontaining induction chemotherapy. However, the incidence of ARLVD in the modern era of routine pretreatment left ventricular ejection fraction (LVEF) echocardiographic assessment, as well as the clinical and genetic predictors of ARLVD are not well understood.

Methods: Consecutive adult patients with AML receiving anthracycline-containing induction chemotherapy at the Dana-Farber Cancer Institute from 2014 to 2022 were studied.

Sensor Location Matters When Estimating Player Workload for Baseball Pitching.

Estimating external workload in baseball pitchers is important for training and rehabilitation. Since current methods of estimating workload through pitch counts and rest days have only been marginally successful, clubs are looking for more sophisticated methods to quantify the mechanical loads experienced by pitchers. Among these are the use of wearable systems.

A survey-based triage tool to identify patients potentially eligible for referral to an advanced heart failure centre.

Aims: Accurate prevalence data for ambulatory advanced heart failure (HF) in European countries remains limited. This study was designed to identify the population of patients potentially eligible for referral for assessment for advanced surgical HF therapies to a National advanced HF and cardiac transplant centre.

Methods And Results: A survey comprising 13 potential clinical markers of advanced HF was developed, modified from the 'I NEED HELP' tool from the 2018 position statement of the Heart Failure Association of the European Society of Cardiology, and distributed to all HF clinic services (secondary and tertiary units) nationwide.

Effect of tafamidis on global longitudinal strain and myocardial work in transthyretin cardiac amyloidosis.

Aims: In patients with transthyretin amyloid cardiomyopathy (ATTR-CM), the effect of tafamidis on myocardial function using serial speckle tracking echocardiography has not been reported. The purpose of this study was to describe the natural history of myocardial function in untreated ATTR-CM and determine the effect of tafamidis on myocardial functional parameters over 12 months of treatment.

Methods And Results: A total of 45 subjects with ATTR-CM were retrospectively studied: 23 treated with tafamidis and 22 untreated.

Cardiac Sarcoidosis: When and How to Treat Inflammation.

Sarcoidosis is a complex, multisystem inflammatory disease with a heterogeneous clinical spectrum. Approximately 25% of patients with systemic sarcoidosis will have cardiac involvement that portends a poorer outcome. The diagnosis, particularly of isolated cardiac sarcoidosis, can be challenging.

Multimodality Imaging in Cardiac Amyloidosis.

Purpose Of Review: Cardiac amyloidosis is an increasingly recognized condition with a growing range of targeted therapies, but diagnosis requires a high index of suspicion and multimodality imaging expertise. Early diagnosis remains key to improving quality of life and survival. This article reviews the multimodality imaging approach to the diagnosis, differentiation, and prognosis of cardiac amyloidosis.

Clinical Significance of Partial Anomalous Pulmonary Venous Connections (Isolated and Atrial Septal Defect Associated) Determined by Cardiovascular Magnetic Resonance.

Background: Partial anomalous venous connections (PAPVC) are associated with left to right shunting and right heart dilatation. Identification of PAPVC has increased with widespread use of cross-sectional imaging modalities. However, management strategies are mostly based on expert opinion given the scarcity of data from large series.

The role of endomyocardial biopsy in suspected myocarditis in the contemporary era: a 10-year National Transplant Centre experience.

Background: Diagnostic endomyocardial biopsy (EMB) in patients with suspected myocarditis helps to direct therapy and guide prognosis. This study aimed to investigate the correlation between the 2007 clinical guideline indications for EMB and the presence of a diagnostic biopsy result and associated outcomes in patients with suspected myocarditis in a national quaternary referral center in a contemporary cohort.

Methods: All cases of suspected myocarditis referred to the National Cardiac Transplant Centre who underwent EMB between 2009 and 2019 were identified retrospectively through pathology records.

Identifying Myocardial Infarction Using Hierarchical Template Matching-Based Myocardial Strain: Algorithm Development and Usability Study.

Background: Myocardial infarction (MI; location and extent of infarction) can be determined by late enhancement cardiac magnetic resonance (CMR) imaging, which requires the injection of a potentially harmful gadolinium-based contrast agent (GBCA). Alternatively, emerging research in the area of myocardial strain has shown potential to identify MI using strain values.

Objective: This study aims to identify the location of MI by developing an applied algorithmic method of circumferential strain (CS) values, which are derived through a novel hierarchical template matching (HTM) method.

Presentation of Severe Rheumatic Mitral Stenosis at the Peak of the COVID-19 Pandemic and the Presumptive Treatment as Severe Coronavirus Illness.

Unlabelled: This case report describes a young female Caucasian patient with newly presenting severe mitral stenosis at the peak of the coronavirus pandemic in the Republic of Ireland. The initial presumptive diagnosis was of severe coronavirus illness. This case report highlights the importance of keeping an open mind to alternative diagnoses and examines some of the challenges in the diagnosis and management of a rare condition in the pandemic environment.

Discovery of Vixotrigine: A Novel Use-Dependent Sodium Channel Blocker for the Treatment of Trigeminal Neuralgia.

Drugs that block voltage-gated sodium channels (Nas) have utility in treating conditions including pain, epilepsy, and cardiac arrhythmias and as anesthetics (Lancet Neurol.20109413424; Expert Opin. Ther.

Evaluation of the Pharmacokinetic Interaction Between the Voltage- and Use-Dependent Nav1.7 Channel Blocker Vixotrigine and Carbamazepine in Healthy Volunteers.

Vixotrigine is a voltage- and use-dependent Nav1.7 channel blocker under investigation for the treatment of peripheral neuropathic pain conditions, including trigeminal neuralgia. Vixotrigine is metabolized primarily via uridine diphosphate-glucuronosyltransferases (UGTs).

Discovery of {4-[4,9-bis(ethyloxy)-1-oxo-1,3-dihydro-2H-benzo[f]isoindol-2-yl]-2-fluorophenyl}acetic acid (GSK726701A), a novel EP receptor partial agonist for the treatment of pain.

A novel series of EP agonists and antagonists have been identified, and then used to validate their potential in the treatment of inflammatory pain. This paper describes these novel ligands and their activity within a number of pre-clinical models of pain, ultimately leading to the identification of the EP partial agonist GSK726701A.

Safety and efficacy of a Nav1.7 selective sodium channel blocker in patients with trigeminal neuralgia: a double-blind, placebo-controlled, randomised withdrawal phase 2a trial.

Background: Current standard of care for trigeminal neuralgia is treatment with the sodium channel blockers carbamazepine and oxcarbazepine, which although effective are associated with poor tolerability and the need for titration. BIIB074, a Nav1.7-selective, state-dependent sodium-channel blocker, can be administered at therapeutic doses without titration, and has shown good tolerability in healthy individuals in phase 1 studies.

Does perceptual or motor experience influence the perception of global and joint-specific kinematic changes in complex movement patterns?

The perception and identification of technical errors during skill execution is a critical component in coaching, because it provides the foundation for skill analysis, instruction, and feedback provision. In this study, we examined the influences of perceptual and motor experience on the perception of kinematic change in a technical evaluation task that is common in coaching. A total of 21 expert coaches, stratified by playing ("motor") expertise, as well as ten novice coaches and ten current players, observed video and point-light displays of a service action and recorded written judgments on whether the serve had changed from one video clip to the next.

Now you see, now you don't … the influence of visual occlusion on racket and ball kinematics in the tennis serve.

The serve is considered amongst the most important strokes in tennis. Not surprisingly, the development of a mechanically consistent and proficient serve is paramount. Correspondingly, drills that involve players serving with their eyes closed are thought to promote mechanical consistency.

Another day, another tennis coaching intervention, but does this one do what coaches purport?

A proficient serve is critical to successful tennis performance, and consequently coaches and players devote considerable time refining this stroke. In so doing, a wide variety of interventions are used or trialled, generally with very little empirical support. This study examined the efficacy of a commonly used service intervention, where players focus on exaggerating their finish (arabesque) position to promote specific changes in lower limb and trunk kinematics.

Exploring the kinaesthetic sensitivity of skilled performers for implementing movement instructions.

The capability to effectively control or adapt a movement pattern based on instructional feedback is essential for effective motor skill learning in high-level sport, as it is in other domains such as rehabilitation or music. Despite this, little is known about the capabilities of skilled athletes to use kinematic feedback to purposefully modify complex movements. This study examined the accuracy with which skilled junior tennis players could translate specific kinematic feedback into appropriate modifications of their service actions.

A kinematic comparison of the overhand throw and tennis serve in tennis players: how similar are they really?

Tennis coaches often use the fundamental throwing skill as a training tool to develop the service action. However, recent skill acquisition literature questions the efficacy of non-specific training drills for developing complex sporting movements. Thus, this study examined the mechanical analogy of the throw and the tennis serve at three different levels of development.