Challenges and solutions to complex data governance issues in cross-national, cross-sectoral, multidisciplinary real world health research: a descriptive overview.

Real-world clinical data is generated during clinical engagements. The collection and further processing and mining of clinical information requires consents and navigation of necessary and important data governance processes. PRECISION ALS is an academic industry programme that collects, collates and analyses clinical and para-clinical data from patients with ALS across 10 European sites.

Discovery of myosin light chain kinase gene variant in a patient with tetralogy of Fallot suffering aortic dissection: Implications for pathogenesis and the role of family and population screening.

Background: Thoracic aortic dissection (TAD) is an uncommon complication in patients with Tetralogy of Fallot (TOF). Information concerning risk factors for TAD in patients with TOF is very limited.

Methods: We report a case of Stanford type A TAD in a female patient with previously repaired TOF.

Haemodynamic significance of extrinsic outflow graft stenoses during HeartMate 3™ therapy.

Aims: The HeartMate 3 (HM3) implantable left ventricular assist device connects the left ventricle apex to the aorta via an outflow graft. Extrinsic obstruction of the graft (eOGO) is associated with serious morbidity and mortality and recently led to a Food and Drug Administration Class 1 device recall of HM3. This study aimed to provide a better understanding of the haemodynamic impact of extrinsic stenoses.

Data and Process Harmonisation of Multi-National, Multi-Site Research Data.

To achieve a single fully harmonised research data set suitable for analysis from data collected at multiple sites requires not only semantic integration of collection concepts and convergence onto single collection units, but harmonisation of data collection processes. We describe our experience of identifying harmonisation challenges in the Precision ALS project, with particular focus on process alignment challenges in a multi-site multi-national research data collection project.

In-depth exploration of the genomic diversity in tea varieties based on a newly constructed pangenome of Camellia sinensis.

Tea, one of the most widely consumed beverages globally, exhibits remarkable genomic diversity in its underlying flavour and health-related compounds. In this study, we present the construction and analysis of a tea pangenome comprising a total of 11 genomes, with a focus on three newly sequenced genomes comprising the purple-leaved assamica cultivar "Zijuan", the temperature-sensitive sinensis cultivar "Anjibaicha" and the wild accession "L618" whose assemblies exhibited excellent quality scores as they profited from latest sequencing technologies. Our analysis incorporates a detailed investigation of transposon complement across the tea pangenome, revealing shared patterns of transposon distribution among the studied genomes and improved transposon resolution with long read technologies, as shown by long terminal repeat (LTR) Assembly Index analysis.

Diastolic function assessment with four-dimensional flow cardiovascular magnetic resonance using automatic deep learning E/A ratio analysis.

Background: Diastolic left ventricular (LV) dysfunction is a powerful contributor to the symptoms and prognosis of patients with heart failure. In patients with depressed LV systolic function, the E/A ratio, the ratio between the peak early (E) and the peak late (A) transmitral flow velocity, is the first step to defining the grade of diastolic dysfunction. Doppler echocardiography (echo) is the preferred imaging technique for diastolic function assessment, while cardiovascular magnetic resonance (CMR) is less established as a method.

Association of Academic Physiatrists Residency and Fellowship Program Directors' Resident Recruitment Subcouncil Position Paper on Residency Recruitment.

Residency recruitment practices have undergone significant changes in the last several years. Interviews are now conducted fully virtually leading to both positive and negative downstream effects, including decreased cost to applicants and programs, decreased time away from clinical activities, flexibility in scheduling, and increased applications for applicants and program directors. In response to these changes, the Association of Academic Physiatrists Residency and Fellowship Program Directors Council convened a workgroup consisting of program directors, program coordinators, residents, and medical students who reviewed the available literature to provide an evidence-based set of best practices for program leaders and applicants.

Deployment of Point-of-Care Echocardiography to Improve Cardiac Diagnostic Access Among American Indians.

Background: American Indians face significant barriers to diagnosis and management of cardiovascular disease. We sought to develop a real-world implementation model for improving access to echocardiography within the Indian Health Service, the American Indian Structural Heart Disease Partnership.

Methods And Results: The American Indian Structural Heart Disease Partnership was implemented and evaluated via a 4-step process of characterizing the system where it would be instituted, building point-of-care echocardiography capacity, deploying active case finding for structural heart disease, and evaluating the approach from the perspective of the clinician and patient.

Distal His bundle pacing in a patient with surgically corrected complex Ebstein anomaly and symptomatic second-degree atrioventricular block: a case report.

Background: Ebstein's anomaly occurs when there is an apical displacement of the tricuspid valve with septal and posterior valve leaflets tethering. This condition often occurs in association with other congenital, structural, or conduction system diseases, including intracardiac shunts, valvular lesions, arrhythmias, accessory conduction pathways, and first-degree atrioventricular (AV) block. We present for the first time a case of a patient with Ebstein's anomaly who presented with second-degree Mobitz II AV block and was successfully treated with conduction system pacing (CSP) due to her young age and the likelihood of a long-term high percentage of pacing.

Haemodynamic effects of hypertension and type 2 diabetes: Insights from a 4D flow MRI-based personalized cardiovascular mathematical model.

Type 2 diabetes (T2D) and hypertension increase the risk of cardiovascular diseases mediated by whole-body changes to metabolism, cardiovascular structure and haemodynamics. The haemodynamic changes related to hypertension and T2D are complex and subject-specific, however, and not fully understood. We aimed to investigate the haemodynamic mechanisms in T2D and hypertension by comparing the haemodynamics between healthy controls and subjects with T2D, hypertension, or both.

4D Flow cardiovascular magnetic resonance consensus statement: 2023 update.

Hemodynamic assessment is an integral part of the diagnosis and management of cardiovascular disease. Four-dimensional cardiovascular magnetic resonance flow imaging (4D Flow CMR) allows comprehensive and accurate assessment of flow in a single acquisition. This consensus paper is an update from the 2015 '4D Flow CMR Consensus Statement'.

The Arabidopsis thaliana onset of leaf death 12 mutation in the lectin receptor kinase P2K2 results in an autoimmune phenotype.

Background: Plant immunity relies on the perception of immunogenic signals by cell-surface and intracellular receptors and subsequent activation of defense responses like programmed cell death. Under certain circumstances, the fine-tuned innate immune system of plants results in the activation of autoimmune responses that cause constitutive defense responses and spontaneous cell death in the absence of pathogens.

Results: Here, we characterized the onset of leaf death 12 (old12) mutant that was identified in the Arabidopsis accession Landsberg erecta.

PRECISION ALS-an integrated pan European patient data platform for ALS.

Amyotrophic Lateral Sclerosis (ALS) is an incurable neurodegenerative condition. Despite significant advances in pre-clinical models that enhance understanding of disease pathobiology, translation of candidate drugs to effective human therapies has been disappointing. There is increasing recognition of the need for a precision medicine approach toward drug development, as many failures in translation can be attributed in part to disease heterogeneity in humans.

Direct current cardioversion in pregnancy: a multicentre study.

Objective: Direct current cardioversion (DCCV) in pregnancy is rarely required and typically only documented in single case reports or case series. A recent UK confidential enquiry reported on several maternal deaths where appropriate DCCV appeared to have been withheld.

Design: Retrospective cohort study.

Use of supported standing in males with Duchenne muscular dystrophy: Individual and family perspectives.

Purpose: This study aimed to explore stander use in individuals with Duchenne Muscular Dystrophy (DMD).

Methods: This mixed method research study employed a survey with categorical and open-ended questions related to stander use. Categorical responses were analyzed quantitatively.

Elucidation of the genetic causes of bicuspid aortic valve disease.

Aims: The present study aims to characterize the genetic risk architecture of bicuspid aortic valve (BAV) disease, the most common congenital heart defect.

Methods And Results: We carried out a genome-wide association study (GWAS) including 2236 BAV patients and 11 604 controls. This led to the identification of a new risk locus for BAV on chromosome 3q29.

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Introduction: Bicuspid aortic valve (BAV) affects 1% of the general population. was the first gene associated with BAV. The proportion of familial and sporadic BAV disease attributed to mutations has not been estimated.

Pregnancies in women with Turner syndrome: a retrospective multicentre UK study.

Objective: To determine the characteristics and outcomes of pregnancy in women with Turner syndrome.

Design: Retrospective 20-year cohort study (2000-20).

Setting: Sixteen tertiary referral maternity units in the UK.