How early can myocardial iron overload occur in Beta thalassemia major?

BACKGROUND: Myocardial siderosis is the most common cause of death in patients with beta thalassemia major(TM). This study aimed at investigating the occurrence, prevalence and severity of cardiac iron overload in a young Chinese population with beta TM. METHODS AND RESULTS: We analyzed T2* cardiac magnetic resonance (CMR), left ventricular ejection fraction (LVEF) and serum ferritin (SF) in 201 beta TM patients. The median age was 9 years old. Patients received an average of 13 units of blood per year. The median SF level was 4536 ng/ml and 165 patients (82.1%) had SF>2500 ng/ml. Myocardial iron overload was detected in 68 patients (33.8%) and severe myocardial iron overload was detected in 26 patients (12.6%). Twenty-two patients ≤10 years old had myocardial iron overload, three of whom were only 6 years old. No myocardial iron overload was detected under the age of 6 years. Median LVEF was 64% (measured by CMR in 175 patients). Five of 6 patients with a LVEF<56% and 8 of 10 patients with cardiac disease had myocardial iron overload. CONCLUSIONS: The TM patients under follow-up at this regional centre in China patients are younger than other reported cohorts, more poorly-chelated, and have a high burden of iron overload. Myocardial siderosis occurred in patients younger than previously reported, and was strongly associated with impaired LVEF and cardiac disease. For such poorly-chelated TM patients, our data shows that the first assessment of cardiac T2* should be performed as early as 6 years old

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw values of the posterior distribution. Findings: Global health has steadily improved over the past 30 years as measured by age-standardised DALY rates. After taking into account population growth and ageing, the absolute number of DALYs has remained stable. Since 2010, the pace of decline in global age-standardised DALY rates has accelerated in age groups younger than 50 years compared with the 1990–2010 time period, with the greatest annualised rate of decline occurring in the 0–9-year age group. Six infectious diseases were among the top ten causes of DALYs in children younger than 10 years in 2019: lower respiratory infections (ranked second), diarrhoeal diseases (third), malaria (fifth), meningitis (sixth), whooping cough (ninth), and sexually transmitted infections (which, in this age group, is fully accounted for by congenital syphilis; ranked tenth). In adolescents aged 10–24 years, three injury causes were among the top causes of DALYs: road injuries (ranked first), self-harm (third), and interpersonal violence (fifth). Five of the causes that were in the top ten for ages 10–24 years were also in the top ten in the 25–49-year age group: road injuries (ranked first), HIV/AIDS (second), low back pain (fourth), headache disorders (fifth), and depressive disorders (sixth). In 2019, ischaemic heart disease and stroke were the top-ranked causes of DALYs in both the 50–74-year and 75-years-and-older age groups. Since 1990, there has been a marked shift towards a greater proportion of burden due to YLDs from non-communicable diseases and injuries. In 2019, there were 11 countries where non-communicable disease and injury YLDs constituted more than half of all disease burden. Decreases in age-standardised DALY rates have accelerated over the past decade in countries at the lower end of the SDI range, while improvements have started to stagnate or even reverse in countries with higher SDI. Interpretation: As disability becomes an increasingly large component of disease burden and a larger component of health expenditure, greater research and developm nt investment is needed to identify new, more effective intervention strategies. With a rapidly ageing global population, the demands on health services to deal with disabling outcomes, which increase with age, will require policy makers to anticipate these changes. The mix of universal and more geographically specific influences on health reinforces the need for regular reporting on population health in detail and by underlying cause to help decision makers to identify success stories of disease control to emulate, as well as opportunities to improve. Funding: Bill & Melinda Gates Foundation. © 2020 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 licens

Clinical and perioperative applications of three-dimensional echocardiography

The use of three-dimensional echocardiography, both in the clinical cardiology and perioperative settings, has increased thanks to its ability to add important information to the standard bi-dimensional exam and to evaluate structures without geometric assumptions. Both real time three dimensional (3D) transesophageal echo and offline quantitative measurements from 3D acquisitions have become integral for qualitative and quantitative analysis of structures and for surgical and procedural guidance. This review aims to provide an overview on the applications of 3D echo, with particular reference to the perioperative settings

Acute respiratory distress syndrome after cardiac surgery

Acute respiratory distress syndrome (ARDS) is a leading cause of postoperative respiratory failure, with a mortality rate approaching 40% in the general population and 80% in the subset of patients undergoing cardiac surgery. The increased risk of ARDS in these patients has traditionally been associated with the use of cardiopulmonary bypass (CPB), the need for blood product transfusions, large volume shifts, mechanical ventilation and direct surgical insult. Indeed, the impact of ARDS in the cardiac population is substantial, affecting not only survival but also in-hospital length of stay and long-term physical and psychological morbidity. No patient undergoing cardiac surgery can be considered ARDS risk-free. Early identification of those at higher risk is crucial to warrant the adoption of both surgical and non-surgical specific preventative strategies. The present review focuses on epidemiology, risk assessment, pathophysiology, prevention and management of ARDS in the specific setting of patients undergoing cardiac surgery

Examining the correlation between Altmetric Attention Score and citation count in the gynecologic oncology literature: Does it have an impact?

We sought to determine the correlation between Altmetric Attention Score and traditional bibliometrics in the gynecologic oncology literature. We identified the 10 most-cited gynecologic oncology articles from 5 major gynecology journals and 10 major “oncology” journals that publish on gynecologic oncology during 2014, 2016, and 2018. Article citation count and Altmetric Attention Score (AAS), as well as journal impact factor (IF) and date of Twitter account development were recorded. Pearson's correlation coefficient was used to describe the relationship between AAS, tweets, IF, and citation count. While the median citation counts significantly decreased for the top-cited gynecologic oncology articles from 2014 to 2018 (p < 0.001), the corresponding median AAS continuously increased during this period (p = 0.008). For articles published in 2014 and 2018, there was a strong positive relationship between the median citation count and the median AAS (2014: r = 0.92; 2018: r = 0.97), as well as between the IF (r = 0.78 and r = 0.89, respectively); these correlations were moderate to weak in 2016 (r = 0.5 and r = 0.41, respectively). There was a continuously increasing strong positive correlation from 2014 to 2018 between journal IF and median AAS (2014: r = 0.75; 2016: r = 0.82; 2018: r = 0.92). Gynecologic oncology articles published in higher impact journals are associated with increased social media visibility and attention. Our data support the idea that early online attention scores, like the AAS, might be useful for predicting future citation counts for oncology publications in general and gynecologic oncology specifically

Diagnostic dilemma of perioperative myocardial infarction after coronary artery bypass grafting: A review

Coronary artery bypass grafting (CABG) is one of the most commonly performed cardiac procedures in the United States (US) and Europe. In the US, perioperative morbidity and mortality related to CABG are below 5%. One of the most significant complications following CABG, however, is perioperative myocardial infarction (PMI). Cardiac biomarkers, intra- and post-operative echocardiography, and electrocardiography are routinely used to monitor for evidence of PMI. In this review, we seek to summarize how each of these modalities is used in the clinical setting to differentiate PMI from expected procedure-related changes, and how these findings impact patients' outcomes. We conclude that while no perfect diagnostic test for the detection of clinically meaningful PMI exists, using a combination of existing modalities with knowledge of expected post-procedure changes allows for early and reliable detection. Future development is needed to create more sensitive and specific modalities for the detection of PMI in patients undergoing CABG

Left Atrial Strain Quantification by Intraoperative Transesophageal Echocardiography: Validation With Transthoracic Echocardiography.

OBJECTIVE: Whereas left atrial (LA) strain has been well-validated using transthoracic echocardiography (TTE), its detection using transesophageal echocardiography (TEE) has not been studied. Conventional transesophageal views are known to be limited due to the posterior location of the LA. Here, the feasibility and accuracy of the deep transgastric long-axis LA focused view for peak atrial longitudinal strain (PALS) quantification was tested. DESIGN: This was a retrospective study of patients who underwent elective cardiac surgery between 2018 and 2020. TEE deep transgastric long-axis view was compared to TTE 4-chamber atrial focused view as the reference standard. LA area, volume, and PALS were quantified independently. SETTING: At Weill Cornell Medicine, a single, large academic medical center. PARTICIPANTS: The population comprised 42 patients undergoing cardiac surgery who had a TTE and TEE within 14.9 ± 20.8 days. INTERVENTIONS: TTE, TEE, and cardiac surgery. MEASUREMENTS AND MAIN RESULTS: TEE-derived PALS strongly correlated with TTE- derived PALS (r = 0.92, p \u3c 0.001), though absolute PALS were lower (20.7 ± 6.0% v 25.7 ± 6.8%; p \u3c 0.001). Mean TEE-derived atrial length was similar to TTE-derived length (5.18 ± 0.61 cm v 5.24 ± 0.61 cm; p = 0.38), but mean LA area was significantly smaller (16.7 ± 3.5 cm CONCLUSION: This exploratory study supported the feasibility of TEE for assessing LA longitudinal strain. There was an excellent correlation between atrial strain derived via TEE versus TTE, although values tended to be smaller on TEE, and bias between values was highly variable, suggesting that the values were not interchangeable