Left ventricular assessment with artificial intelligence increases the diagnostic accuracy of stress echocardiography

Aims: To evaluate whether left ventricular ejection fraction (LVEF) and global longitudinal strain (GLS), automatically calculated by artificial intelligence (AI), increases the diagnostic performance of stress echocardiography (SE) for coronary artery disease (CAD) detection. Methods and results SEs from 512 participants who underwent a clinically indicated SE (with or without contrast) for the evaluation of CAD from seven hospitals in the UK and US were studied. Visual wall motion scoring (WMS) was performed to identify inducible ischaemia. In addition, SE images at rest and stress underwent AI contouring for automated calculation of AI-LVEF and AI-GLS (apical two and four chamber images only) with Ultromics EchoGo Core 1.0. Receiver operator characteristic curves and multivariable risk models were used to assess accuracy for identification of participants subsequently found to have CAD on angiography. Participants with significant CAD were more likely to have abnormal WMS, AI-LVEF, and AI-GLS values at rest and stress (all P < 0.001). The areas under the receiver operating characteristics for WMS index, AI-LVEF, and AI-GLS at peak stress were 0.92, 0.86, and 0.82, respectively, with cut-offs of 1.12, 64%, and −17.2%, respectively. Multivariable analysis demonstrated that addition of peak AI-LVEF or peak AI-GLS to WMS significantly improved model discrimination of CAD [C-statistic (bootstrapping 2.5th, 97.5th percentile)] from 0.78 (0.69–0.87) to 0.83 (0.74–0.91) or 0.84 (0.75–0.92), respectively. Conclusion AI calculation of LVEF and GLS by contouring of contrast-enhanced and unenhanced SEs at rest and stress is feasible and independently improves the identification of obstructive CAD beyond conventional WMSI

Intrapartum Antibiotic Chemoprophylaxis Policies for the Prevention of Group B Streptococcal Disease Worldwide: Systematic Review.

Background: Intrapartum antibiotic chemoprophylaxis (IAP) prevents most early-onset group B streptococcal (GBS) disease. However, there is no description of how IAP is used around the world. This article is the sixth in a series estimating the burden of GBS disease. Here we aimed to review GBS screening policies and IAP implementation worldwide. Methods: We identified data through (1) systematic literature reviews (PubMed/Medline, Embase, Literature in the Health Sciences in Latin America and the Caribbean [LILACS], World Health Organization library database [WHOLIS], and Scopus) and unpublished data from professional societies and (2) an online survey and searches of policies from medical societies and professionals. We included data on whether an IAP policy was in use, and if so whether it was based on microbiological or clinical risk factors and how these were applied, as well as the estimated coverage (percentage of women receiving IAP where indicated). Results: We received policy information from 95 of 195 (49%) countries. Of these, 60 of 95 (63%) had an IAP policy; 35 of 60 (58%) used microbiological screening, 25 of 60 (42%) used clinical risk factors. Two of 15 (13%) low-income, 4 of 16 (25%) lower-middle-income, 14 of 20 (70%) upper-middle-income, and 40 of 44 (91%) high-income countries had any IAP policy. The remaining 35 of 95 (37%) had no national policy (25/33 from low-income and lower-middle-income countries). Coverage varied considerably; for microbiological screening, median coverage was 80% (range, 20%-95%); for clinical risk factor-based screening, coverage was 29% (range, 10%-50%). Although there were differences in the microbiological screening methods employed, the individual clinical risk factors used were similar. Conclusions: There is considerable heterogeneity in IAP screening policies and coverage worldwide. Alternative global strategies, such as maternal vaccination, are needed to enhance the scope of global prevention of GBS disease

The contribution of X-linked coding variation to severe developmental disorders

Abstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders

The ICPerMed vision for 2030: How can personalised approaches pave the way to Next-Generation Medicine?

Astrid M. Vicente - INSA (chair of Vision Paper Writing Group),This document presents the vision of the International Consortium for Personalised Medicine (ICPerMed) on personalised medicine (PM) research and implementation by 2030. ICPerMed connects more than 40 European and international institutions that aim to: The notion that individuals can experience unique clinical manifestations for the same disease, as well as variable responses to treatment, has long been recognized by the medical community. There are many long-standing paradigmatic examples of the use of such knowledge in medicine, for example the testing of blood type before blood transfusions or the neonatal screening programs. However, the prolific technological advancements in biomarker detection over the last few decades, including not only genomics but also other “omics” and body imaging methods, have spurred the development of novel approaches to health and disease management that are specifically optimised for each individual. The term PM, and its subtle variations, such as precision medicine or stratified medicine, today generally describe an approach to medicine that integrates an individual’s characteristics for early disease diagnosis, prognosis, optimal choice of treatment, accurate disease risk estimation, and targeted prevention.The Coordination and Support Action (CSA) ICPerMed Secretariat has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 731366info:eu-repo/semantics/publishedVersio

Effect of host resistance on genetic structure of core and accessory chromosomes in Irish Zymoseptoria tritici populations

In agricultural pathosystems resistant cultivars are typically only temporarily effective, as widespread growth of said cultivars drives selection for pathogen genotypes capable of infecting them. A gene-for-gene interaction between Z. tritici and wheat has been demonstrated for one cultivar; however results of studies into the relevance of these interactions in the field remain inconsistent. Because genetic drift does not appear to occur between Z. tritici populations that are not widely geographically separated, according to neutral genetic theory if adaptation to different host cultivars is occurring, reduced genetic variation, and some differentiation between populations sourced from different cultivars should be observed. Selectively neutral microsatellite markers were used to genotype 260 isolates of Z. tritici taken from two naturally infected randomized block trials of four different cultivars, representing a spectrum of resistance to Z. tritici from susceptible to resistant. By calculating genetic parameters such as overall heterozygosity and FST from this genotypic data, the presented study aimed to determine if genetic drift or host selection is impacting on the genetic structure of the Irish Z. tritici population. Results indicated that diversity was distributed almost entirely within, rather than among populations, with little or no differentiation, and almost no clone isolates were present in the dataset. However this result was not reflected in the accessory chromosomes, where evidence of minor but significant genetic structure was found. This lack of structure in the core chromosomes and weak structure in the accessory chromosomes confirms that forces of genetic drift and selection are minor compared to sexual reproduction, in concurrence with multiple previous studies on other populations worldwide.</p