EDITORS CORNER
Risk factor identification and their subsequent reduction is one of the fundamental strategies in cardiovascular disease prevention and treatment (CVD). Any biological mechanism comprises many crucial elements which ensure its function. Thorough cross-level molecular assessment is required in order to obtain relevant information, therefore gaining insight into disease pathogenesis. Numerous advances in the identification of CVD associated biomarkers have undoubtedly expanded our understanding. However, lifestyle, environmental factors and genetic predisposition are ought to be taken into account. Given the presence of numerous factors affecting the course of CVD, there is a demand for new sensitive diagnostic methods. One of those new approaches is the usage of omics technologies, which make it possible to obtaina large array of biological data at the molecular level. Integration of various methods helps to accumulate a colossal amount of data. High-tech tools for data analysis, such as artificial intelligence and machine learning ensure the identification of interrelated significant data between variables. Multi-omics technologies in combination with genetic analysis are attracting more attention worldwide. It can be perceived as a new stage in CVD prediction and recurrent cardiovascular events risk assessment. These approaches can help to improve our understanding of the molecular genetic pathology of CVD and provide an objective evaluation of pathophysiological processes.
REVIEWERS
Rare (orphan) diseases are an urgent unmet biomedical problem. Tremendous efforts and resources are expended for the search for cures for these diseases. Zebrafish can provide a powerful screening tool for novel orphan drugs, and may also deepen our mechanistic understanding of such rare pathological conditions. Here, we discuss various models of orphan diseases of the nervous system on zebrafish, and outline associated problems, limitations and prospects in the context of the development of personalized medicine.
This review gives an overview of the mechanisms of recently described new mode of programmed cell death called necroptosis. We summarize recent studies on the role of necroptosis in the development of various diseases. In addition, the data on pathological changes at the cellular and tissue level induced by targeted deletion of genes encoding key mediators of necroptosis are presented. The limited experience on the use of pharmacological necroptosis modulators for prevention of tissue/organ injury is also described. Furthermore, the perspectives of the clinical use of necroptosis modulators are critically evaluated.
The review discusses the relevance of the problem of obstructive sleep apnea syndrome in real clinical practice, features of diagnostics and a personalized approach to therapy considering various comorbid conditions, a review of the results of major clinical studies and recommendations. Literature search and selection of clinical studies was carried out for the period from 2000 to 2020 on the websites of the European and Russian Societies of Cardiology, as well as databases PubMed, eLibrary, Google Scholar.
The review discusses the relevance of the problem of obstructive sleep apnea syndrome in real clinical practice, features of diagnostics and a personalized approach to therapy considering various comorbid conditions, a review of the results of major clinical studies and recommendations. Literature search and selection of clinical studies was carried out for the period from 2000 to 2020 on the websites of the European and Russian Societies of Cardiology, as well as databases PubMed, eLibrary, Google Scholar.
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease characterized by variable clinical manifestations and a complex pathogenesis not fully understood at the moment. Various forms of cell death play an important role, eventually leading to the presentation of the autoantigen to immunocompetent cells, the production of pro-inflammatory cytokines, and an imbalance between the effectors and regulators of cellular immunity. The study of SLE pathogenesis pathways includes the search for potential objects for targeted therapy. This review briefly discusses the current knowledge about the pathogenetic mechanisms of this disease, including the researches latest to-date.
Rare and unknown diseases are numerous and heterogeneous, characterized by low prevalence and relatively high mortality and disability rates. There are currently 6000–8000 rare diseases known to the scientific community, with an additional 250–280 new diseases being described each year. Both the difficulty of diagnosis and the lack of effective treatment for many of these diseases are pressing health problems throughout the world. The growing global interest in the problem of rare and unknown diseases and the search for its solution has led to the initiation of projects on rare, unknown and little-studied diseases in many countries.
The review presents metabolomic studies of primary mitochondrial diseases. The focus is on Leber’s hereditary optic neuropathy (LHON), Leigh syndrome, Barth syndrome and MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). Changes in the metabolome characteristic of primary mitochondrial diseases occur due to disruption of the process of oxidative phosphorylation in various tissues and ATP deficiency, as well as in defects in a number of metabolic pathways, such as tricarboxylic acid cycles, glycolysis, fatty acid / phospholipid metabolism, acylcarnitine metabolism and one carbon metabolism.
CLINICAL CASE
Nocturnal bradyarrhythmias represent a special group of cardiac arrhythmias that require volumetric diagnostics. The article presents a case of a rare arrhythmia — REM-associated atrioventricular block and a description of our approach to managing a patient, taking into account his individual characteristics.
Arrhythmogenic cardiomyopathy is a genetically determined disease of the heart muscle, characterized by fibrofat replacement of the ventricular myocardium, which predisposes to ventricular arrhythmias and a high risk of SCD. Initially, it was believed that this disease is characterized by an exclusive or predominant lesion of the right ventricle. However, fibro-fatty replacement can also be localized in the left ventricle without involvement of the right chambers. This article presents a rare clinical case of a child with Carvajal syndrome with the classic triad of signs (left-dominant form of AСM, keratoderma, and woolly-curly hair).
A clinical case of heart rhythm disturbances in an infant with obstructive sleep apnea syndrome is presented. During the examination, a direct relationship between arrhythmias and respiratory events during sleep was established. During the search for the cause of sleep apnea, standard endoscopic research techniques were uninformative, but the use of endoscopic examination during drug-induced sleep endoscopy made it possible to identify the localization of obstruction.
Atrial fibrillation is the most common persistent arrhythmia in adults; however, it is quite rare in children. In patients without structural heart diseases or extracardiac causes, the genetic basis of the arrhythmia can be assumed. A clinical case of atrial fibrillation in a child, probably associated with the variant D1907H in the SCN10A gene, was described in this article. In spite of a very limited clinical and genetic information on the association of Nav 1.8 channel encoded by SCN10A with atrial arrhythmias, the presented case can further confirm the role of this gene in arrhythmogenesis in children.
This article presents the case of a combination of two genetically determined diseases in one early age patient: long QT syndrome type 1 and mucopolysaccharidosis type IIIA.
ISSN 2782-3814 (Online)