Cardiomyopathies are defined as myocardial disorders in which the heart muscle is structurally and functionaly abnormal in the absence of a disease sufficient to cause this abnormality such as coronary artery disease, hypertension, valvular or congenital heart disease. According to the phenotype expresion cardiomyopathies are divided into dilated, hypertrophic, restrictive, arrhytmogenic and unclassified cardiomyopathies (noncompaction and tako-tsubo cardiomyopathy). The same phenotypic expression may include etiologically different forms of the disease, and at the same time phenotypic expression may change in many cardiomyopathies in the course of illness. For each type of cardiomyopathy, we further distinguish the familial (genetic) form and the acquired form. The clinical manifestation of the disease includes symptoms of heart failure, with reduced, mildly reduced or preserved ejection fraction, symptoms resulting from a number of arrhythmias and extracardiac symptoms, but in some cases symptoms may not be presented for a relatively long time. The disease can lead to significant morbidity and mortality if not detected and treated early, especially in young people who are frequently affected. Significant developments in diagnostic and treatment methods have led to an improvement in the prognosis of patients with cardiomyopathies in recent years.
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http://dx.doi.org/10.36290/vnl.2023.016 | DOI Listing |
JAMA Cardiol
January 2025
National Amyloidosis Centre, Division of Medicine, University College London, Royal Free Hospital, London, United Kingdom.
Importance: Patients with transthyretin (ATTR) cardiac amyloid infiltration are increasingly diagnosed at earlier disease stages with no heart failure (HF) symptoms and a wide range of cardiac amyloid infiltration.
Objective: To characterize the clinical phenotype and natural history of asymptomatic patients with ATTR cardiac amyloid infiltration.
Design, Setting, And Participants: This cohort study analyzed data of all patients at 12 international centers for amyloidosis from January 1, 2008, through December 31, 2023.
Rice (N Y)
January 2025
State Key Laboratory of Crop Gene Resources and Breeding, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing, 100081, China.
Rice is highly sensitive to low temperatures, making cold stress a significant factor limiting its growth, especially during the bud bursting stage. To address this, an RIL population derived from a cross between cold-tolerant and cold-sensitive rice varieties was used to identify nine QTLs linked to cold tolerance under temperatures of 4 ℃, 5 °C, and 6 ℃ using a high-density genetic map. One candidate gene, LOC_Os07g44410, was identified through gene function annotation, haplotype analysis, and qRT-PCR, with two main haplotypes (Hap1 and Hap2) showing distinct phenotypic differences.
View Article and Find Full Text PDFCell Mol Neurobiol
January 2025
Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, China.
Immune and metabolic factors play an important role in the onset and development of insomnia. This study aimed to investigate the causal relationship between insomnia and immune cells and metabolites. Data for 731 immune cell phenotypes, 1400 metabolites, and insomnia in this study were obtained from the GWAS open-access database.
View Article and Find Full Text PDFHum Genet
January 2025
Department of Oto-Rhino-Laryngology, West China Hospital, Sichuan University, Chengdu, China.
The genetic relationship between migraine and stroke remains underexplored, particularly in the context of druggable targets. Previous studies have been limited by small sample sizes and a lack of focus on genetic-targeted therapies for these conditions. We analyzed the association and causality between migraine and stroke using multivariable logistic regression in the UK Biobank cohort and Mendelian randomization (MR) analyses based on genome-wide association study (GWAS) data.
View Article and Find Full Text PDFPLoS Biol
January 2025
Microbial Molecular Evolution Group, Department of Microbial Population Biology, Max Planck Institute for Evolutionary Biology, Plön, Germany.
Bacteriophages infect gram-negative bacteria by attaching to molecules present on the bacterial surface, often lipopolysaccharides (LPS). Modification of LPS can lead to resistance to phage infection. In addition, LPS modifications can impact antibiotic susceptibility, allowing for phage-antibiotic synergism.
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