International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.

Danon disease is a rare X-linked autophagic vacuolar cardioskeletal myopathy associated with severe heart failure that can be accompanied with extracardiac neurologic, skeletal, and ophthalmologic manifestations. It is caused by loss of function variants in the LAMP2 gene and is among the most severe and penetrant of the genetic cardiomyopathies. Most patients with Danon disease will experience symptomatic heart failure. Male individuals generally present earlier than women and die of either heart failure or arrhythmia or receive a heart transplant by the third decade of life. Herein, the authors review the differential diagnosis of Danon disease, diagnostic criteria, natural history, management recommendations, and recent advances in treatment of this increasingly recognized and extremely morbid cardiomyopathy.

Global longitudinal strain predicts clinical outcomes in patients with heart failure with preserved ejection fraction.

AIMS: Patients with heart failure with preserved ejection fraction (HFpEF) are at high risk for hospitalization and mortality and many of these patients experience a deterioration in left ventricular ejection fraction (LVEF) over time. Global longitudinal strain (GLS) is a sensitive marker of myocardial dysfunction that could help predict risk for future events in this population. We assessed whether GLS can predict adverse clinical outcomes and future deterioration in LVEF in patients with HFpEF. METHODS AND RESULTS: In this retrospective cohort study, patients with HFpEF were divided into groups according to abnormal GLS (>-15.8%) or normal GLS (<-15.8%).The primary outcomes were: a composite of cardiovascular mortality or heart failure hospitalization and deterioration in LVEF to <40%. Among the 311 patients with HFpEF, 128 patients (41%) had normal GLS and 183 patients (59%) had abnormal GLS. After a median follow-up of 4.6 years, the composite outcome occurred more commonly in patients with abnormal GLS compared to patients with normal GLS (62% vs. 44%; hazard ratio [HR] 1.74, 95% confidence interval [CI] 1.3-2.4, p < 0.001). Patients with abnormal GLS were also more likely to experience a deterioration in LVEF (19% vs. 10%; HR 2.2, 95% CI 1.2-4.3, p = 0.018). When assessed as a continuous variable, each 1% increase in GLS was associated with 10% increased odds for the composite outcome and 13% increased odds for deterioration in LVEF. CONCLUSION: In patients with HFpEF, abnormal GLS is common and is a strong predictor for clinical events and future deterioration in LVEF.

Mortality Prediction in Patients With or Without Heart Failure Using a Machine Learning Model.

Background: Most risk prediction models are confined to specific medical conditions, thus limiting their application to general medical populations. Objectives: The MARKER-HF (Machine learning Assessment of RisK and EaRly mortality in Heart Failure) risk model was developed in heart failure (HF) patients. We assessed the ability of MARKER-HF to predict 1-year mortality in a large community-based hospital registry database including patients with and without HF. Methods: This study included 41,749 consecutive patients who underwent echocardiography in a tertiary referral hospital (4,640 patients with and 37,109 without HF). Patients without HF were further subdivided into those with (n = 22,946) and without cardiovascular disease (n = 14,163) and also into cohorts based on recent acute coronary syndrome or history of atrial fibrillation, chronic obstructive pulmonary disease, chronic kidney disease, diabetes mellitus, hypertension, or malignancy. Results: The median age of the 41,749 patients was 65 years, and 56.2% were male. The receiver operated area under the curves for MARKER-HF prediction of 1-year mortality of patients with HF was 0.729 (95% CI: 0.706-0.752) and for patients without HF was 0.770 (95% CI: 0.760-0.780). MARKER-HF prediction of mortality was consistent across subgroups with and without cardiovascular disease and in patients diagnosed with acute coronary syndrome, atrial fibrillation, chronic obstructive pulmonary disease, chronic kidney disease, diabetes mellitus, or hypertension. Patients with malignancy demonstrated higher mortality at a given MARKER-HF score than did patients in the other groups. Conclusions: MARKER-HF predicts mortality for patients with HF as well as for patients suffering from a variety of diseases.

Extracellular RNA as a kind of communication molecule and emerging cancer biomarker.

Extracellular RNA (exRNA) is a special form of RNA in the body. RNA carries information about genes and metabolic regulation in the body, which can reflect the real-time status of cells. This characteristic renders it a biomarker for disease diagnosis, treatment, and prognosis. ExRNA is transported through extracellular vesicles as a signal medium to mediate communication between cells. Tumor cells can release more vesicles than normal cells, thereby promoting tumor development. Depending on its easy detection, the advantages of non-invasive molecular diagnostic technology can be realized. In this systematic review, we present the types, vectors, and biological value of exRNA. We briefly describe new methods of tumor diagnosis and treatment, as well as the difficulties faced in the progress of such research. This review highlights the groundbreaking potential of exRNA as a clinical biomarker.

A review of constituents identified in e-cigarette liquids and aerosols.

INTRODUCTION: Identification of chemicals present in e-liquids and aerosols is a vital first step in assessing the human health effects of e-cigarettes. We aim to identify the qualitative and quantitative constituents present in e-cigarette liquids and aerosols. METHODS: A comprehensive search of scientific databases included literature up to July 2020. A total of 28 articles met inclusion criteria; 18 articles assessed e-liquid constituents and 15 articles assessed aerosol constituents. Of these, 5 assessed constituents present in both mediums. We included English-language publications that examine qualitative and/or quantitative constituents in e-cigarette liquids and aerosols. RESULTS: In total, articles identified 60 compounds in e-liquids and 47 compounds in aerosols. A total of 22 compounds were identified in both e-liquids and aerosols. These are: acenaphthylene, acetaldehyde, acetol, antimony, benzaldehyde, benzene, chromium, copper, diacetyl, formaldehyde, glycerol, lead, limonene, naphthalene, nickel, nicotine, nicotine-N'-oxides, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), N-Nitrosonornicotine (NNN), propylene glycol, toluene, and vegetable glycerin. Some of the identified chemicals have been labeled as harmful, toxic, or cancerous through human, animal, and cell line studies. A variety of laboratory methods were used for analyses, which made reported levels less consistent. CONCLUSIONS: E-liquids and aerosols contain a variety of chemicals with potential health effects from inhaling them. Further, secondhand health effects are unknown because of limited understanding of the dose of exposure by non-users. Identification of constituents in e-cigarettes is the first step to determine their risks to humans and support evidence-based regulations and health policies.

CRISPR technology: The engine that drives cancer therapy.

CRISPR gene editing technology belongs to the third generation of gene editing technology. Since its discovery, it has attracted the attention of a large number of researchers. Investigators have published a series of academic articles and obtained breakthrough research results through in-depth research. In recent years, this technology has developed rapidly and been widely applied in many fields, especially in medicine. This review focuses on concepts of CRISPR gene editing technology, its application in cancer treatments, its existing limitations, and the new progress in recent years for detailed analysis and sharing.

The Impact of Human Mobility on Regional and Global Efforts to Control HIV Transmission.

HIV prevention and control methods are implemented on different scales to reduce the spread of the virus amongst populations. However, despite such efforts, HIV continues to persist in populations with a global incidence rate of 1.8 million in 2017 alone. The introduction of new infections into susceptible regional populations promotes the spread of HIV, indicating a crucial need to study the impact of migration and mobility on regional and global efforts to prevent HIV transmission. Here we reviewed studies that assess the impact of human mobility on HIV transmission and spread. We found an important role for both travel and migration in driving the spread of HIV across regional and national borders. Combined, our results indicate that even in the presence of control and preventive efforts, if migration and travel are occurring, public health efforts will need to remain persistent to ensure that new infections do not grow into outbreaks.