Journal articles on the topic 'Cardiovascular system – Diseases – Genetic aspects'
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1
Tatour, Yasmin, and Tamar Ben-Yosef. "Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects." Diagnostics 10, no. 10 (October 2, 2020): 779. http://dx.doi.org/10.3390/diagnostics10100779.
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Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described. Approximately 200 genes are associated with these syndromes. The majority of syndromic IRDs are recessively inherited and rare. Many, although not all, syndromic IRDs can be classified into one of two major disease groups: inborn errors of metabolism and ciliopathies. Besides the retina, the systems and organs most commonly involved in syndromic IRDs are the central nervous system, ophthalmic extra-retinal tissues, ear, skeleton, kidney and the cardiovascular system. Due to the high degree of phenotypic variability and phenotypic overlap found in syndromic IRDs, correct diagnosis based on phenotypic features alone may be challenging and sometimes misleading. Therefore, genetic testing has become the benchmark for the diagnosis and management of patients with these conditions, as it complements the clinical findings and facilitates an accurate clinical diagnosis and treatment.
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Kireeva, Victoria Vladimirovna, Svetlana Aleksandrovna Lepekhova, Lyubov Nazirovna Mansurova, and Saryuna Chingisovna Dugarova. "EPIGENETIC AND MOLECULAR AND GENETIC ASPECTS OF OBESITY AS A RISK FACTOR OF CARDIOVASCULAR CATASTROPHES." EurasianUnionScientists 5, no. 7(76) (August 20, 2020): 39–44. http://dx.doi.org/10.31618/esu.2413-9335.2020.5.76.926.
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The review provides current information of obesity in the pathogenesis of cardiovascular diseases the leading cause of death. Showing the genetic basis for the development of metabolic syndrome. The question of external influence on genes, mutations in which lead to the development of obesity is determined. The question of the possible role of exogenous destroyers in the development of metabolic syndrome is considered. The main genes involved in monogenic and polygenic variants of obesity are identified. The review shows that to prevent the development of metabolic syndrome, it is necessary to form risk groups and to take mandatory preventive activity in these groups. Pathogenetic significance determines the attention of clinicians to this pathology, and the molecular and genetic aspects of formation the cardiovascular diseases dictate the need for personalized medicine to predict and prevent, and pharmacogenetics to correct obesity, metabolic syndrome and the cardiovascular system as a whole.
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Sychev, Dmitry A., Igor N. Sychev, Karin B. Mirzaev, Eric I. Rytkin, Dmitriy V. Ivashchenko, Irina V. Bure, and Vitaliy A. Otdelenov. "Clinical pharmacology technologies for personalization of cardiovascular diseases drug treatment: focus on direct oral anticoagulants." Annals of the Russian academy of medical sciences 74, no. 5 (December 4, 2019): 299–306. http://dx.doi.org/10.15690/vramn1214.
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One of the main causes for adverse reactions development is not taking into account the pharmacokinetics of drugs and the dose. Pharmacokinetics of drugs is mostly defined by the cytochrome P-450 isoenzymes activity, carboxylesterases and many other isoenzymes of drug metabolism, as well as ADME transporters (P-gp etc.) which take part in the process of drug metabolism. The activity of these isoenzymes is defined by the genetic aspects of patients and non-genetic aspects such as comorbidity and drug-drug interactions. The development of complex algorithms for personalization of therapy based on the results of pharmacogenetic studies and in the form of a decision support system will play an important role in reduction of adverse drug reactions. A lot can be achieved for personalization of Direct Oral Anticoagulants for treatment of cardiovascular diseases. New approaches are being developed based on the results of pharmacogenetic and pharmacokinetic testing that will help diminish adverse effects of drugs.
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Jones, Elizabeth A. V., Ferdinand le Noble, and Anne Eichmann. "What Determines Blood Vessel Structure? Genetic Prespecification vs. Hemodynamics." Physiology 21, no. 6 (December 2006): 388–95. http://dx.doi.org/10.1152/physiol.00020.2006.
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Vascular network remodeling, angiogenesis, and arteriogenesis play an important role in the pathophysiology of ischemic cardiovascular diseases and cancer. Based on recent studies of vascular network development in the embryo, several novel aspects to angiogenesis have been identified as crucial to generate a functional vascular network. These aspects include specification of arterial and venous identity in vessels and network patterning. In early embryogenesis, vessel identity and positioning are genetically hardwired and involve neural guidance genes expressed in the vascular system. We demonstrated that, during later stages of embryogenesis, blood flow plays a crucial role in regulating vessel identity and network remodeling. The flow-evoked remodeling process is dynamic and involves a high degree of vessel plasticity. The open question in the field is how genetically predetermined processes in vessel identity and patterning balance with the contribution of blood flow in shaping a functional vascular architecture. Although blood flow is essential, it remains unclear to what extent flow is able to act on the developing cardiovascular system. There is significant evidence that mechanical forces created by flowing blood are biologically active within the embryo and that the level of mechanical forces and the type of flow patterns present in the embryo are able to affect gene expression. Here, we highlight the pivotal role for blood flow and physical forces in shaping the cardiovascular system.
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Saveleva, N. N., I. I. Sokolova, S. I. German, and T. V. Tomilina. "SOME ASPECTS OF THE EATIOLOGY OF PARODONTUS DISEASES. (LITERATURE REVIEW)." Ukrainian Dental Almanac, no. 2 (June 25, 2018): 54–59. http://dx.doi.org/10.31718/2409-0255.2.2018.13.
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The review of the scientific literature is devoted to the topical issues of studying the etiology of periodontal diseases, which are one of the most common and complex pathologies of the maxillofacial region.
Analysis of recent studies proves a stable relationship between the development of periodontal diseases and disorders in the immune system, the neurohumoral system, metabolic disorders, genetic predisposition, and so on. The article presents the data obtained in the course of studying the literature on the role of disorders in the functioning of individual organs (gastrointestinal tract, liver, lungs, heart, and urinary system) in the development of chronic periodontal diseases. The article notes that the anatomical and physiological proximity of the periodontal and digestive tract tissues, the generality of innervation and humoral regulation create prerequisites for the involvement of periodontal disease in the pathological process in diseases of the gastrointestinal tract. One of the main etiological factors in the development of inflammatory diseases of the gastrointestinal tract and periodontium is Helicobacter pylori, which is found in the loci of the oral cavity: in the oral and gingival fluid, on the mucous membrane of the tongue and cheeks, and in the periodontal pockets.
It is pointed out that the liver also occupies a special place in the development of periodontal diseases, which is explained by the performance of its significant functions for the human body: regulatory, metabolic, antitoxic and other.
There is evidence that the pathology of periodontal disease plays a leading role in the structure of dental diseases in patients with chronic obstructive pulmonary diseases, which is clinically manifested by symptoms of generalized periodontitis of the І-ІІ degrees of development and its complications - partial or complete secondary adentia, and with tooth preservation - defects in dental series and violations of occlusion, function, aesthetics.
Scientists suggest a general biological mechanism for the development of generalized periodontitis and cardiovascular diseases, linking the development of periodontal diseases in patients with cardiovascular pathology with microcirculatory disorders.
The dependence of the severity of inflammatory changes in the periodontal tissues on the disturbances of salt metabolism in urolithiasis is proved.
The data obtained indicate that diseases of the internal organs contribute to the structural damage of periodontal tissues and they are a risk factor for periodontal diseases, which necessitate the presence of not only theoretical knowledge and practical skills in dentistry, but also their awareness of the features and clinical manifestations of somatic pathology. An urgent and justified step in the treatment of periodontal diseases is also the involvement in the process of rendering complex dental care to internist doctors capable of quickly and qualitatively assessment the condition of the internal organs and the basic systems of the patient's body.
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Fajemiroye, James Oluwagbamigbe, Luiz Carlos da Cunha, Roberto Saavedra-Rodríguez, Karla Lima Rodrigues, Lara Marques Naves, Aline Andrade Mourão, Elaine Fernanda da Silva, et al. "Aging-Induced Biological Changes and Cardiovascular Diseases." BioMed Research International 2018 (June 10, 2018): 1–14. http://dx.doi.org/10.1155/2018/7156435.
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Aging is characterized by functional decline in homeostatic regulation and vital cellular events. This process can be linked with the development of cardiovascular diseases (CVDs). In this review, we discussed aging-induced biological alterations that are associated with CVDs through the following aspects: (i) structural, biochemical, and functional modifications; (ii) autonomic nervous system (ANS) dysregulation; (iii) epigenetic alterations; and (iv) atherosclerosis and stroke development. Aging-mediated structural and biochemical modifications coupled with gradual loss of ANS regulation, vascular stiffening, and deposition of collagen and calcium often disrupt cardiovascular system homeostasis. The structural and biochemical adjustments have been consistently implicated in the progressive increase in mechanical burden and functional breakdown of the heart and vessels. In addition, cardiomyocyte loss in this process often reduces adaptive capacity and cardiovascular function. The accumulation of epigenetic changes also plays important roles in the development of CVDs. In summary, the understanding of the aging-mediated changes remains promising towards effective diagnosis, discovery of new drug targets, and development of new therapies for the treatment of CVDs.
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Macit, Melahat S., and Nilüfer Acar-Tek. "Current Perspectives for Diabetes and Allostatic Load: The Role of Nutrition." Current Nutrition & Food Science 15, no. 7 (November 12, 2019): 646–52. http://dx.doi.org/10.2174/1573401314666180620164859.
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Allostasis and allostatic load are new concepts explaining the changes in body stemming from chronic stress. These concepts are explained with the assessment of metabolic, cardiovascular, inflammatory, and neuroendocrine systems. Type 2 Diabetes Mellitus (DM) is a chronic disease with the fluctuations in fasting plasma glucose, and also in other various biomarkers and poses a risk forother chronic diseases. The course and duration of the disease, genetic factors, and environmental factors, including nutrition, aggravate these complications. Allostatic load is a multi-system assessment. Individuals’ compliance with the medical nutrition therapy in the short and long-term, changes in anthropometric and biochemical biomarkers that are used to measure the nutritional status. In the monitoring of patients with diabetes, it’s important to assess metabolic, cardiovascular, neuroendocrine, and immune system biomarkers as well as fasting blood glucose. There exist studies in the literature, investigating the relationship of the allostatic load with socio-economic status, chronic diseases such as diabetes and cardiovascular diseases, gender, and ethnicity. In these studies, chronic stress, nutritional status, stress, and allostasis are briefly described. In the present literature review, it was aimed to evaluate different aspects of the relationships among diabetes, nutrition, allostatic load, and stress.
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Demidov, O. N., A. V. Shakula, G. V. Gulevatiy, and A. V. Sobolev. "Role of clonal gemopoeisis in development of individual approaches for early diagnostics, treatment and rehabilitation of patients with cardio-vascular diseases." Bulletin of Restorative Medicine 97, no. 3 (June 28, 2020): 45–49. http://dx.doi.org/10.38025/2078-1962-2020-97-3-45-49.
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Recently, due to significant improvement and cheapening of the new generation of full genome sequencing technology, it has become possible to identify acquired mutations in individual cells of the hematopoietic system. This has led to the detection of clones of hematopoietic cells with acquired mutations in certain genes in middle-aged and elderly people and made it possible to characterize a new prepathological state - clonal hemopoiesis. Clonal hemopoiesis is defined as the appearance and clonal expansion of cells of the hemopoietic system with genetic changes that give these cells certain advantages in proliferation and/or resistance to adverse factors in comparison with other hemopoietic cells. This phenomenon is found mainly in individuals after 55 years of age and is practically not found in individuals of young age. At this age, most individuals show signs of cardiovascular pathology of some degree of severity. This review discusses some aspects of the possible impact of clonal hemopoiesis on cardiovascular diseases.
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Motta, Benedetta M., Peter P. Pramstaller, Andrew A. Hicks, and Alessandra Rossini. "The Impact of CRISPR/Cas9 Technology on Cardiac Research: From Disease Modelling to Therapeutic Approaches." Stem Cells International 2017 (2017): 1–13. http://dx.doi.org/10.1155/2017/8960236.
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Genome-editing technology has emerged as a powerful method that enables the generation of genetically modified cells and organisms necessary to elucidate gene function and mechanisms of human diseases. The clustered regularly interspaced short palindromic repeats- (CRISPR-) associated 9 (Cas9) system has rapidly become one of the most popular approaches for genome editing in basic biomedical research over recent years because of its simplicity and adaptability. CRISPR/Cas9 genome editing has been used to correct DNA mutations ranging from a single base pair to large deletions in both in vitro and in vivo model systems. CRISPR/Cas9 has been used to increase the understanding of many aspects of cardiovascular disorders, including lipid metabolism, electrophysiology and genetic inheritance. The CRISPR/Cas9 technology has been proven to be effective in creating gene knockout (KO) or knockin in human cells and is particularly useful for editing induced pluripotent stem cells (iPSCs). Despite these progresses, some biological, technical, and ethical issues are limiting the therapeutic potential of genome editing in cardiovascular diseases. This review will focus on various applications of CRISPR/Cas9 genome editing in the cardiovascular field, for both disease research and the prospect of in vivo genome-editing therapies in the future.
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Cai, Wanwan, Wanbang Zhou, Zhe Han, Junrong Lei, Jian Zhuang, Ping Zhu, Xiushan Wu, and Wuzhou Yuan. "Master regulator genes and their impact on major diseases." PeerJ 8 (October 6, 2020): e9952. http://dx.doi.org/10.7717/peerj.9952.
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Master regulator genes (MRGs) have become a hot topic in recent decades. They not only affect the development of tissue and organ systems but also play a role in other signal pathways by regulating additional MRGs. Because a MRG can regulate the concurrent expression of several genes, its mutation often leads to major diseases. Moreover, the occurrence of many tumors and cardiovascular and nervous system diseases are closely related to MRG changes. With the development in omics technology, an increasing amount of investigations will be directed toward MRGs because their regulation involves all aspects of an organism’s development. This review focuses on the definition and classification of MRGs as well as their influence on disease regulation.
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Sharma, Sushil. "Nanotheranostics in Evidence Based Personalized Medicine." Current Drug Targets 15, no. 10 (September 15, 2014): 915–30. http://dx.doi.org/10.2174/1389450115666140826123552.
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Efficient drug delivery systems are exceedingly important for novel drug discovery. The evidence-based personalized medicine (EBPM) promises to deliver the right drug at the right time to a right patient as it covers clinicallysignificant genetic predisposition and chronopharmacological aspects of nanotheranostics. Recently nanotechnology has provided clinically-significant information at the cellular, molecular, and genetic level to facilitate evidence-based personalized treatment. Particularly drug encapsulation in pegylated liposomes has improved pharmacodynamics of cancer, cardiovascular diseases, and neurodegenerative diseases. Long-circulating liposomes and block copolymers concentrate slowly via enhanced permeability and retention (EPR) effect in the solid tumors and are highly significant for the drug delivery in cancer chemotherapeutics. Selective targeting of siRNA and oligonucleotides to tumor cells with a potential to inhibit multi-drug resistant (MDR) malignancies has also shown promise. In addition, implantable drug delivery devices have improved the treatment of several chronic diseases. Recently, microRNA, metallothioneins (MTs), α-synuclein index, and Charnoly body (CB) have emerged as novel drug discovery biomarkers. Hence CB antagonists-loaded ROSscavenging targeted nanoparticles (NPs) may be developed for the treatment of neurodegenerative and cardiovascular diseases. Nonspecific induction of CBs in the hyper-proliferative cells may cause alopecia, gastrointestinal tract (GIT) symptoms, myelosuppression, neurotoxicity, and infertility. Therefore selective CB agonists may be developed to augment cancer stem cell specific CB formation to eradicate MDR malignancies with minimum or no adverse effects. This review highlights recent advances on safe, economical, and effective treatment of neurodegenerative diseases, cardiovascular diseases, and cancer by adopting emerging nanotheranostic strategies to accomplish EBPM.
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Hanley, Sara E., and Katrina F. Cooper. "Sorting Nexins in Protein Homeostasis." Cells 10, no. 1 (December 24, 2020): 17. http://dx.doi.org/10.3390/cells10010017.
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Protein homeostasis is maintained by removing misfolded, damaged, or excess proteins and damaged organelles from the cell by three major pathways; the ubiquitin-proteasome system, the autophagy-lysosomal pathway, and the endo-lysosomal pathway. The requirement for ubiquitin provides a link between all three pathways. Sorting nexins are a highly conserved and diverse family of membrane-associated proteins that not only traffic proteins throughout the cells but also provide a second common thread between protein homeostasis pathways. In this review, we will discuss the connections between sorting nexins, ubiquitin, and the interconnected roles they play in maintaining protein quality control mechanisms. Underlying their importance, genetic defects in sorting nexins are linked with a variety of human diseases including neurodegenerative, cardiovascular diseases, viral infections, and cancer. This serves to emphasize the critical roles sorting nexins play in many aspects of cellular function.
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Seguin, Maureen, Gideon Lasco, Khairuddin Bin Idris, Jhaki Mendoza, N. H. Hanani Mohd Kadri, Steven Krauss, Jeffrey D'Silva, et al. "Patient pathways for cardiovascular diseases in Malaysia and the Philippines: a systematic review." Wellcome Open Research 6 (February 26, 2021): 43. http://dx.doi.org/10.12688/wellcomeopenres.16412.1.
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Background: Cardiovascular diseases (CVDs) are the leading cause of premature mortality in the world and are a growing public health concern in low- and middle-income countries (LMICs), including those in South East Asia. Their management requires coordinated responses by a range of healthcare providers, which should preferably be based on knowledge of the national context. We systematically review evidence on the pathways followed by patients with CVD in Malaysia and the Philippines to understand patient journeys, along with the barriers at each stage. Methods: We searched seven bibliographic databases and grey literature sources to identify material focused on the pathways followed by patients with CVD in Malaysia and the Philippines, and performed a narrative synthesis. Results: The search yielded 25 articles, 3 focused on the Philippines and 22 on Malaysia. Most articles were quantitative analyses that focused on hypertensive patients. Three examined secondary prevention post myocardial infarction, and one each examined acute myocardial infarction, heart failure, and atrial fibrillation. Reported barriers reflected capability (knowledge of behaviours to achieve control or the capacity to conduct these behaviours), intention (attitudes or motivations toward the behaviours to achieve control), and aspects of the health care system (availability, accessibility, affordability and acceptability of services). Conclusions: There are large gaps in our understanding of patient pathways in Malaysia and the Philippines that limit the development of evidence-based strategies to effectively address the CVD burden in South East Asian countries and in LMICs more broadly. Addressing these evidence gaps will require longitudinal mixed-methods studies following patients from initial diagnosis to long-term management.
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Kuzmina, Lyudmila P., Maria M. Kolyaskina, Lyudmila M. Bezrukavnikova, Nana A. Anvarul, and Anastasia V. Karpushina. "The risk of developing cardiovascular complications in employees who operate and maintain communication facilities based on wired and wireless technologies." Russian Journal of Occupational Health and Industrial Ecology 61, no. 4 (May 25, 2021): 212–17. http://dx.doi.org/10.31089/1026-9428-2021-61-4-212-217.
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Introduction. Heart disease has remained the leading cause of death in the world for the past 20 years. The development and progression of cardiovascular diseases, along with genetic, somatic, behavioral, socioeconomic, environmental, and other risk factors, are significantly affected by unfavorable industrial and professional aspects: physical-vibration, noise, temperature disturbance; ergonomic - inactivity, and monotonous work, physical overstrain, chemical, biological, stress, etc. The primary pathogenetic mechanism leading to the development of CHD and fatal complications - myocardial infarction, strokes, thrombosis, and other diseases of the cardiovascular system is atherosclerosis. The study aimed to assess the risk of developing cardiovascular complications in employees who operate and maintain communication facilities based on wired and wireless technologies Materials and methods. An in-depth examination of the health status of 50 employees of the service for the operation of radio equipment and communications was conducted. Blood serum levels of glucose, cholesterol, triglycerides, HDL, and LDL were determined, and the atherogenicity index was calculated. The probability of total risk of cardiovascular complications and five-year cardiovascular risk was calculated for all the examined patients according to the European SCORE scale and the ASCORE rating scale. The "Vascular age" was also calculated. Results. Based on the analysis of lipid metabolism indicators, a high cardiovascular risk was identified in 40% of the examined patients. Increased values of the atherogenicity index were already observed in middle-aged people (45-60 years). Analysis of the data obtained using the SCORE and ASCORE assessment scales revealed a high risk of developing cardiovascular complications in middle-aged (45-60 years) and elderly (61-74 years) individuals. The excess of the vascular age in comparison with the real (passport) age was established in middle-aged (45-60 years) and elderly (61-74 years) individuals, on average, 7 (p<0.001) and 5 (p=0.026) years, respectively. Conclusion. The most pronounced changes in lipid metabolism and the risk of cardiovascular risk were in people of the most working age (45-60). In this regard, it is necessary to develop preventive measures aimed at cardioscreening to detect early signs of health disorders, prevent the development of cardiovascular complications, and the formation of groups at increased risk of diseases.
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Podzolkov, V. I., T. A. Safronova, and Dinara U. Natkina. "The role of asymmetric dimethylarginine in the development of arterial hypertension." Clinical Medicine (Russian Journal) 95, no. 11 (March 12, 2018): 965–70. http://dx.doi.org/10.18821/0023-2149-2017-95-11-965-970.
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The results of numerous studies of recent decades confirm the crucial role of vascular endothelium in regulating vascular homeostasis. A plethora of recent studies have shed light on the clinical significance of endothelial dysfunction in essential hypertension. Asymmetric dimethylarginine (ADMA) is an endogenous nitric oxide synthase inhibitor. At present, it is considered as a generally recognized marker of endothelial dysfunction by most researchers. In vitro experiments showed that ADMA inhibits endothelium-dependent arterial relaxation, increases the level of indicators characterizing the degree of oxidative stress in endothelial cells, enhances the synthesis of the superoxide anion radical by endothelial cells. The molecular mechanisms described above, activated with an increase in the concentration of ADMA, cause various disturbances in the function of the cardiovascular system, which gave grounds to consider the level of ADMA as a criterion and risk factor for the development of cardiovascular diseases. Thus, ADMA plays a key role in the development and progression of CVD associated with a spectrum of diseases and pathological conditions characterized by a disturbance in NO production. Despite clinical and experimental confirmation of the relationship between the increase in ADMA in plasma and the development of cardiovascular events, the unambiguous etiopathogenetic role of ADMA in CVD requires further research. In order to accurately answer the question of whether ADMA is an etiological factor or a biological marker of CVD, additional analysis is needed to study the biochemical, genetic and pharmacological aspects of ADMA metabolism, the results of which are presented in this article.
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Di Battista, Valeria, Maria Teresa Bochicchio, Giulio Giordano, Mariasanta Napolitano, and Alessandro Lucchesi. "Genetics and Pathogenetic Role of Inflammasomes in Philadelphia Negative Chronic Myeloproliferative Neoplasms: A Narrative Review." International Journal of Molecular Sciences 22, no. 2 (January 8, 2021): 561. http://dx.doi.org/10.3390/ijms22020561.
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The last decade has been very important for the quantity of preclinical information obtained regarding chronic myeloproliferative neoplasms (MPNs) and the following will be dedicated to the translational implications of the new biological acquisitions. The overcoming of the mechanistic model of clonal evolution and the entry of chronic inflammation and dysimmunity into the new model are the elements on which to base a part of future therapeutic strategies. The innate immune system plays a major role in this context. Protagonists of the initiation and regulation of many pathological aspects, from cytokine storms to fibrosis, the NLRP3 and AIM2 inflammasomes guide and condition the natural history of the disease. For this reason, MPNs share many biological and clinical aspects with non-neoplastic diseases, such as autoimmune disorders. Finally, cardiovascular risk and disturbances in iron metabolism and myelopoiesis are also closely linked to the role of inflammasomes. Although targeted therapies are already being tested, an increase in knowledge on the subject is desirable and potentially translates into better care for patients with MPNs.
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Di Battista, Valeria, Maria Teresa Bochicchio, Giulio Giordano, Mariasanta Napolitano, and Alessandro Lucchesi. "Genetics and Pathogenetic Role of Inflammasomes in Philadelphia Negative Chronic Myeloproliferative Neoplasms: A Narrative Review." International Journal of Molecular Sciences 22, no. 2 (January 8, 2021): 561. http://dx.doi.org/10.3390/ijms22020561.
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The last decade has been very important for the quantity of preclinical information obtained regarding chronic myeloproliferative neoplasms (MPNs) and the following will be dedicated to the translational implications of the new biological acquisitions. The overcoming of the mechanistic model of clonal evolution and the entry of chronic inflammation and dysimmunity into the new model are the elements on which to base a part of future therapeutic strategies. The innate immune system plays a major role in this context. Protagonists of the initiation and regulation of many pathological aspects, from cytokine storms to fibrosis, the NLRP3 and AIM2 inflammasomes guide and condition the natural history of the disease. For this reason, MPNs share many biological and clinical aspects with non-neoplastic diseases, such as autoimmune disorders. Finally, cardiovascular risk and disturbances in iron metabolism and myelopoiesis are also closely linked to the role of inflammasomes. Although targeted therapies are already being tested, an increase in knowledge on the subject is desirable and potentially translates into better care for patients with MPNs.
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Tellez-Plaza, Maria, Laisa Briongos-Figuero, Gernot Pichler, Alejandro Dominguez-Lucas, Fernando Simal-Blanco, Francisco J. Mena-Martin, Jesus Bellido-Casado, et al. "Cohort profile: the Hortega Study for the evaluation of non-traditional risk factors of cardiometabolic and other chronic diseases in a general population from Spain." BMJ Open 9, no. 6 (June 2019): e024073. http://dx.doi.org/10.1136/bmjopen-2018-024073.
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PurposeThe Hortega Study is a prospective study, which investigates novel determinants of selected chronic conditions with an emphasis on cardiovascular health in a representative sample of a general population from Spain.ParticipantsIn 1997, a mailed survey was sent to a random selection of public health system beneficiaries assigned to the University Hospital Rio Hortega’s catchment area in Valladolid (Spain) (n=11 423, phase I), followed by a pilot examination in 1999–2000 of 495 phase I participants (phase II). In 2001–2003, the examination of 1502 individuals constituted the Hortega Study baseline examination visit (phase III, mean age 48.7 years, 49% men, 17% with obesity, 27% current smokers). Follow-up of phase III participants (also termed Hortega Follow-up Study) was obtained as of 30 November 2015 through review of health records (9.5% of participants without follow-up information).Findings to dateThe Hortega Study integrates baseline information of traditional and non-traditional factors (metabolomic including lipidomic and oxidative stress metabolites, genetic variants and environmental factors, such as metals), with 14 years of follow-up for the assessment of mortality and incidence of chronic diseases. Preliminary analysis of time to event data shows that well-known cardiovascular risk factors are associated with cardiovascular incidence rates, which add robustness to our cohort.Future plansIn 2020, we will review updated health and mortality records of this ongoing cohort for a 5-year follow-up extension. We will also re-examine elder survivors to evaluate specific aspects of ageing and conduct geolocation to study additional environmental exposures. Stored biological specimens are available for analysis of new biomarkers. The Hortega Study will, thus, enable the identification of novel factors based on time to event data, potentially contributing to the prevention and control of chronic diseases in ageing populations.
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Strashok, Larysa, Svetlana Turchyna, Natalia Shevchenko, Zalina Yeloyeva, Olga Belousova, and Olha Tsodikova. "Modern aspects of hepatology: liver steatosis and fibrosis through the prism of comorbidity in pediatric practice." ScienceRise: Medical Science, no. 3(42) (May 31, 2021): 50–55. http://dx.doi.org/10.15587/2519-4798.2021.232478.
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The relevance of the topic is dictated by the growing prevalence of hepatic steatosis and fibrosis in the pediatric population, which is due to an increase in the number of pathologies of various organs and systems, which may be accompanied by the development of these liver lesions.
The aim of the study: to analyze the data of modern sources of scientific literature regarding the prevalence and features of the course of pathology of various organs and systems, which is associated with the development of steatosis and liver fibrosis in the pediatric population.
Materials and methods. A systematic search of scientific was carried out using Web of Science, Scopus, PubMed, scientific bases with key words: «hepatic steatosis», «hepatic fibrosis», «non-alcoholic fatty liver disease», «comorbid pathology», «children and adolescents».
Conclusions. Currently, the number of children and adolescents who are diagnosed with steatosis and/or fibrosis of the liver is increasing in the world. In particular, the formation of this pathology is associated with the presence of metabolic syndrome and is associated with its main components, such as obesity, hypertension, disorders of carbohydrate and lipid metabolism. More and more studies indicate the role of non-alcoholic fatty liver disease, which is based on steatosis, as a comorbid pathology in systemic, cardiovascular, endocrine diseases, gastrointestinal tract pathology, and genetic disorders. Also, a number of drugs with steatogenic and fibrogenic effects on liver tissue have been established, which are widely used in pediatric practice. It is necessary to monitor the structural and functional state of the liver already in childhood and adolescence for adequate treatment of the underlying disease and prevention of the formation of comorbid pathology
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Falcón de Vargas, Aı́da. "Genetic aspects of cardiovascular diseases." International Congress Series 1237 (July 2002): 145–60. http://dx.doi.org/10.1016/s0531-5131(01)00582-9.
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Prudente, Sabrina, and Vincenzo Trischitta. "The TRIB3 Q84R polymorphism, insulin resistance and related metabolic alterations." Biochemical Society Transactions 43, no. 5 (October 1, 2015): 1108–11. http://dx.doi.org/10.1042/bst20150115.
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Insulin resistance is pathogenic for many prevalent disorders including type 2 diabetes mellitus (T2DM), cardiovascular disease (CVD), polycystic ovary syndrome, non-alcoholic fatty liver disease, Alzheimer's and Parkinson's diseases and several cancers. Unravelling molecular abnormalities of insulin resistance may therefore pave the way for tackling such heavy weight on healthcare systems. This review will be focused on studies addressing the role of genetic variability of TRIB3, an inhibitor of insulin signalling at the AKT level on insulin resistance and several related abnormalities. Studies carried out in several cultured cells clearly report that the TRIB3 Q84R missense polymorphism, is a gain-of-function amino acid substitution, with the Arg84 variant being a stronger inhibitor of insulin-mediated AKT activation as compared with the more frequent Gln84 variant. Given the key role of AKT in modulating not only insulin signalling but also insulin secretion, it was not surprising that β-cells and human pancreatic islets carrying the Arg84 variant showed also impaired insulin secretion. Also, of note is that in human vein endothelial cells carrying the Arg84 variant showed a reduced insulin-induced nitric oxide release, an established early atherosclerotic step. Accordingly with in vitro studies, in vivo studies indicate that TRIB3 Arg84 is associated with insulin resistance, T2DM and several aspects of atherosclerosis, including overt CVD. In all, several data indicate that the TRIB3 Arg84 variant plays a role on several aspects of glucose homoeostasis and atherosclerotic processes, thus unravelling new molecular pathogenic mechanisms of highly prevalent disorders such as T2DM and CVD.
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Yang, Yan Cheng, Saad Ul Islam, Asra Noor, Sadia Khan, Waseem Afsar, and Shah Nazir. "Influential Usage of Big Data and Artificial Intelligence in Healthcare." Computational and Mathematical Methods in Medicine 2021 (September 6, 2021): 1–13. http://dx.doi.org/10.1155/2021/5812499.
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Artificial intelligence (AI) is making computer systems capable of executing human brain tasks in many fields in all aspects of daily life. The enhancement in information and communications technology (ICT) has indisputably improved the quality of people’s lives around the globe. Especially, ICT has led to a very needy and tremendous improvement in the health sector which is commonly known as electronic health (eHealth) and medical health (mHealth). Deep machine learning and AI approaches are commonly presented in many applications using big data, which consists of all relevant data about the medical health and diseases which a model can access at the time of execution or diagnosis of diseases. For example, cardiovascular imaging has now accurate imaging combined with big data from the eHealth record and pathology to better characterize the disease and personalized therapy. In clinical work and imaging, cancer care is getting improved by knowing the tumor biology and helping in the implementation of precision medicine. The Markov model is used to extract new approaches for leveraging cancer. In this paper, we have reviewed existing research relevant to eHealth and mHealth where various models are discussed which uses big data for the diagnosis and healthcare system. This paper summarizes the recent promising applications of AI and big data in medical health and electronic health, which have potentially added value to diagnosis and patient care.
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Kindo, Bikrant, Rana Himanshu, K. Parmar, S. Dube, and J. Ramesh. "Socioeconomic and demographic trends in the prevalence of type 2 diabetes in India." Journal of Social Health and Diabetes 04, no. 02 (December 2016): 090–101. http://dx.doi.org/10.4103/2321-0656.188001.
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AbstractNoncommunicable diseases (NCDs), also known as chronic diseases, are not passed from person to person. They are of long duration and generally slow progression. The four main types of NCDs are cardiovascular diseases (such as heart attacks and stroke), cancers, chronic respiratory diseases (such as chronic obstructive pulmonary disease and asthma), and diabetes. The rapid demographic and epidemiologic transition that India is facing today is paralleled by a massive increase in NCD prevalence, of which diabetes remains the most dominant. Besides genetic and environmental factors, an increase in life expectancy, urbanization, influenced unhealthy lifestyle changes, affluence associated with dietary excess, and reduced physical activity appear to be major drivers for increased burden of diabetes in India. Inappropriate nutrition and physical inactivity lead to obesity, a positive predictor for diabetes. Moreover, early onset of diabetes accompanied by prevailing poverty, low awareness, and poor health consciousness across socioeconomic and demographic strata is reflected in the large burden of undiagnosed cases of diabetes. In addition, reversal of socioeconomic gradient of disease burden observed in India can have serious health and financial implications on individual and healthcare system, which, if left unaddressed, may result in an adverse impact on the nation's economy. Keeping in view, a major shift in India's burden of disease, there is an imperative need for robust, systematic measures for data reporting supported by effective public healthcare interventions to reduce the burden of diabetes. Comprehensive multisectoral actions prioritizing identification of risk factors, early diagnosis, and effective implementation of cost-effective interventions can curb the epidemic of diabetes. A multifaceted approach for implementation of evidence-based policy measures involving various departments of the government and nongovernmental agencies is required to address both preventive and curative aspects of diabetes management. Policies that ensure better surveillance and increase in access to affordable and essential medicines providing universal health coverage should be developed. Policymakers should take lead in the development or strengthening the existing policies and see that they are not only implemented but also evaluated for their effectiveness. A strong commitment from both public and private sectors toward implementation and intensification of population-based prevention strategies through proven programs and policies is required to address the growing burden of diabetes.
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Abbakumova, Larisa N., Vadim G. Arsentev, Tamara I. Kadurina, Anna V. Kopceva, Elena E. Krasnova, Aneta M. Mambetova, Zoea V. Nesterenko, and Maria L. Chuhlovina. "Multiorgan violations in connective tissue dysplasia in children. diagnostic and management standards. Russian draft recommendations." Pediatrician (St. Petersburg) 7, no. 4 (December 15, 2016): 5–36. http://dx.doi.org/10.17816/ped745-36.
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In October 2014 in Moscow at the XIII Russian Congress “Innovative Technologies in Pediatrics and Pediatric Surgery” was adopted the first part of the Russian recommendations “Congenital and multifactorial hereditary connective tissue disorders in children. Diagnostic algorithms. Tactics of treatment”. Multifactorial connective tissue dysplasia have a high prevalence in the population. We present the second part of the draft Guidelines dealing with multiple organ disorders in the connective tissue dysplasia. Despite the high level of modern molecular techniques, clarification of their nosology remains a distant prospect. Figuring out the incidence of connective tissue dysplasia hindered by the lack of common terminology, standardized diagnostic criteria, as well as the practical inaccessibility of modern molecular genetic techniques to identify the disease. In the first part of the Guidelines we could not find a place for all aspects of this complex issue, which bears an interdisciplinary approach. Later it was planned to develop recommendations for doctors of various specialties. During writing the second part it was taken into account the specialists and research teams from St Petersburg, Moscow, Tver, Omsk, Novosibirsk, Ivanovo, Chelyabinsk, Izhevsk, Orenburg, Smolensk, Petrozavodsk, Nalchik, Barnaul, Saratov, Rostov-on-Don, Voronezh, Stavropol, Yaroslavl. The core of the group works in active collaboration since 2008. The draft of the second part of the recommendation characterized especially multifactorial connective tissue dysplasia in infants, multiple organ disorders of the cardiovascular, respiratory, urinary system, gastrointestinal tract, hemostasis, nervous, musculoskeletal, upper respiratory tract and maxillodental apparatus. It sets out the course and tactics of various diseases with concurrent connective tissue dysplasia.
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Archipov, Vladimir V., and Yuliya R. Bolsunovskaya. "Some aspects of pharmacological support with antidysrhythmic drugs." Medical Journal of the Russian Federation 27, no. 2 (July 23, 2021): 145–52. http://dx.doi.org/10.17816/0869-2106-2021-27-2-145-152.
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A high level of morbidity and mortality from cardiovascular diseases remains prevalent in the Russian Federation, despite a decreasing trend that emerged in recent years. Rhythm and conduction disorders play an essential role in the thanatogenesis of cardiovascular pathology, which determines the medical and social significance of their pharmacotherapy. This is indicated by the stable demand for antidysrhythmic drugs from both the state and the population. This is evidenced by high levels of public procurements and retail sales of drugs for the treatment of cardiovascular diseases, since patients take this drug group for a long time and often permanently. Our marketing analysis of the antidysrhythmic drugs market used current open data from the State Register of Medicines and the State Register of Maximum Selling Prices and available analytical data. It showed that from 54.5% (metoprolol drugs) to 100% (procainamide drugs) of the market share is occupied by generic drugs made in Russia. The presented analysis confirms the assumption of a significant increase in the share of generic drugs in public procurements. This is associated with the implementation of the drug safety program for vital and essential drugs and the optimization of costs by the state. A priority of the state drug policy in Russia is to monitor the effectiveness and safety throughout its entire life cycle. Moreover, particular importance should be given to the issue of interchangeability, which is regulated by Federal Law No. 1360 dated September 5, 2020, On the Procedure for Determining the Interchangeability of Medicines for Medical Use. The annual increase in the share of generic domestic antidysrhythmic drugs on the market poses the problem of selecting the most efficient and safe approach to pharmacotherapy for practicing specialists. The solution may be to develop and implement open automated information systems for the safety profiles of the original and generic antidysrhythmic drugs.
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Ud din Babar, Zaheer, Mohamed Izham Mohamed Ibrahim, and Nadeem Irfan Bukhari. "Medicine Utilisation and Pricing in Malaysia: The Findings of a Household Survey." Journal of Generic Medicines: The Business Journal for the Generic Medicines Sector 3, no. 1 (October 2005): 47–61. http://dx.doi.org/10.1057/palgrave.jgm.4940098.
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The objectives of this study were to identify the most commonly used medicines for mainly prevalent ailments and to compare retail sector prices (RSPs), public sector prices (PSPs) and international reference prices (IRPs). A convenient sampling method was employed to survey 33 households in a metropolitan city. Each family was followed once a week for eight weeks to observe their diseases and medication usage. The RSPs and PSPs for per unit doses and defined daily doses (DDDs) were compared with the IRPs. The most common ailments identified were cardiovascular and endocrine disorders followed by central nervous system and musculoskeletal disorders. Accordingly, the most common drugs used were for the treatment of the above ailments. Among 81 commonly used medicines, 63 were branded and 18 were generic. Of the 81 drugs, 26 were essential drugs. Angiotensin-converting enzyme (ACE) inhibitors, beta-blockers and calcium channel blockers were among the most commonly used medicines. The differential between the prices of branded medicines and IRPs were found to be remarkable. This study further revealed that the majority of patients also used traditional medicines and nutritional supplements alongside their modern medicines. Wide variations were observed in RSPs and IRPs, warranting critical evaluation, regulation and emphasis on the economic aspects of drug policy. Widespread use of branded medicines in the absence of a national health insurance programme can lead to high out-of-pocket expenditures. Concomitant use of traditional medicines and nutritional supplements may have drug interaction potential, invoking detailed investigation for relevance.
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Lozano, Julio Cesar Martinez, Rosa Margarita Gomez, Andres Gabriel Zarate Sanabria, Giovanny Jubiz, and Sonia Del Pilar Otalora Valderrama. "Genetic Aspects of Glial Cells Regarding Neurodegenerative Diseases." Current Pharmaceutical Design 24, no. 15 (July 30, 2018): 1727–35. http://dx.doi.org/10.2174/1381612823666170828134055.
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Glial cells (also known as glia or neuroglia) are structures which are found in large numbers throughout the nervous system, fulfilling multiple functions, such as regulating the synapses, providing structure, support and nutrition, contributing towards the immune response and tissue oxygenation. Knowledge regarding glial cells has increased during the last few years, since Virchow defined them as supporting connective tissue, followed by Ramón y Cajal who described them as tissue in themselves, until today when a first order physiological role has been recognised for them and a leading role in the appearance and progression of various pathological processes, primarily in the group of Neurodegenerative Diseases (ND). The ND represents a group of pathologies which gradually cause the degeneration of nervous tissue, have a broad spectrum regarding their appearance and, in some cases, are the direct consequence of genetic alterations leading to physiological changes in the nervous system. The present article has thus been aimed at describing glial cells’ genetic interaction with ND through a systemic review of the pertinent literature. The mechanisms through which the different classes of glial cells become involved in the appearance of ND are poorly understood; however, evidence indicates that their role could be a critical factor in these pathologies’ appearance, regulation and chronicity, these being largely determined by different types of cellular interactions and interaction with the microenvironment. This review shows that ND genetics regarding glial cells’ cellular, molecular and genetic functioning represents a complex and understudied process; studying these factors could be a key step for ascertaining the origin of these pathologies, thereby leading to more effective therapies being developed.
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Celeghin, Rudy, Gaetano Thiene, Barbara Bauce, Cristina Basso, and Kalliopi Pilichou. "Genetics in cardiovascular diseases." Italian Journal of Medicine 13, no. 3 (September 6, 2019): 137–51. http://dx.doi.org/10.4081/itjm.2019.1186.
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Cardiovascular diseases (CVDs) are a wide group of disorders affecting the heart and blood vessels, including coronary artery, valve, pericardial, conduction system, myocardial and vascular diseases, either congenital or acquired, which can be also heritable. The advent of next generation sequencing (NGS) was accompanied by quick advances in understanding the genetic basis of human diseases, prompting translation of genetics to the clinic. Precision medicine is based on these findings and on the role of genetic testing to improve the diagnosis, to identify individuals with previously unrecognized disease and family members at risk of future disease development which require longitudinal follow-up. However, the probabilistic nature of genetic testing and the subjectivity of genetic variants classification weighted on current evidence, making this powerful clinical tool difficult to be applied in precision diagnostics and therapeutics. Here, we reviewed systematically the genetic basis of CVDs with special emphasis on the current role of NGS in clinical diagnosis and risk assessment, underlying the need of multidisciplinary cardio-genetic referral centers.
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Marini, Francesca, and Maria Luisa Brandi. "Genetic Determinants of Osteoporosis: Common Bases to Cardiovascular Diseases?" International Journal of Hypertension 2010 (2010): 1–16. http://dx.doi.org/10.4061/2010/394579.
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Osteoporosis is the most common and serious age-related skeletal disorder, characterized by a low bone mass and bone microarchitectural deterioration, with a consequent increase in bone fragility and susceptibility to spontaneous fractures, and it represents a major worldwide health care problem with important implications for health care costs, morbidity and mortality. Today is well accepted that osteoporosis is a multifactorial disorder caused by the interaction between environment and genes that singularly exert modest effects on bone mass and other aspects of bone strength and fracture risk. The individuation of genetic factors responsible for osteoporosis predisposition and development is fundamental for the disease prevention and for the setting of novel therapies, before fracture occurrence. In the last decades the interest of the Scientific Community has been concentrated in the understanding the genetic bases of this disease but with controversial and/or inconclusive results. This review tries to summarize data on the most representative osteoporosis candidate genes. Moreover, since recently osteoporosis and cardiovascular diseases have shown to share common physiopathological mechanisms, this review also provides information on the current understanding of osteoporosis and cardiovascular diseases common genetic bases.
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Ho, Wei-Min, Yah-Yuan Wu, and Yi-Chun Chen. "Genetic Variants behind Cardiovascular Diseases and Dementia." Genes 11, no. 12 (December 18, 2020): 1514. http://dx.doi.org/10.3390/genes11121514.
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Cardiovascular diseases (CVDs) and dementia are the leading causes of disability and mortality. Genetic connections between cardiovascular risk factors and dementia have not been elucidated. We conducted a scoping review and pathway analysis to reveal the genetic associations underlying both CVDs and dementia. In the PubMed database, literature was searched using keywords associated with diabetes mellitus, hypertension, dyslipidemia, white matter hyperintensities, cerebral microbleeds, and covert infarctions. Gene lists were extracted from these publications to identify shared genes and pathways for each group. This included high penetrance genes and single nucleotide polymorphisms (SNPs) identified through genome wide association studies. Most risk SNPs to both diabetes and dementia participate in the phospholipase C enzyme system and the downstream nositol 1,4,5-trisphosphate and diacylglycerol activities. Interestingly, AP-2 (TFAP2) transcription factor family and metabolism of vitamins and cofactors were associated with genetic variants that were shared by white matter hyperintensities and dementia, and by microbleeds and dementia. Variants shared by covert infarctions and dementia were related to VEGF ligand–receptor interactions and anti-inflammatory cytokine pathways. Our review sheds light on future investigations into the causative relationships behind CVDs and dementia, and can be a paradigm of the identification of dementia treatments.
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NAKAYAMA, Tomohiro. "The Genetic Contribution of the Natriuretic Peptide System to Cardiovascular Diseases." Endocrine Journal 52, no. 1 (2005): 11–21. http://dx.doi.org/10.1507/endocrj.52.11.
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Royuk, R. V., S. K. Yarovoy, N. A. Guseva, Sh L. Voskanyan, V. V. Royuk, and D. B. Rodin. "Epidemiological aspects of nephrolithiasis and chronic diseases of the cardiovascular system combination." Research and Practical Medicine Journal 7, no. 1 (March 12, 2020): 38–47. http://dx.doi.org/10.17709/2409-2231-2020-7-1-4.
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Purpose of the study. To analyze prevalence and characteristics of the cardiovascular diseases (CVD) in patients with urolithiasis, revealed for the first timeMaterials and methods. In a period between 2009 and 2018, was made a retrospective analysis of medical histories of 2311 patients with urolithiasis, which were treated in in the urology departments of the branch No. 1 of the MCHG named after N.N. Burdenko (n=1487) and GBUZ MO Krasnogorsk City Hospital No. 1 (n=824). In 67,6% of the cases (1562 patients) the diagnosis of urolithiasis was diagnosed for the first time on admission. Isolated urolithiasis was recorded in 676 cases (43,3%), in other 154 cases (9,8%) nephrolithiasis was combined with different variants of cardiovascular diseases (CVD) and diabetes. From 732 respondents with urolithiasis and associated cardiovascular diseases (CVD), were formed 3 groups, in the first group (I) were included patients (n=363) with hypertension and arterial hypertension: the second group (II; n=79) was formed from patients with isolated coronary heart disease. In the third group (III) were included 290 patients which had urolithiasis combined with hypertension, arterial hypertension and coronary heart disease. The stages of hypertension and degree of expression of arterial hypertension were given according to the recommendations of Russian science society of cardiology (2004). Stages of congestive heart failure were defined according to c NYHA (New York Heart Association) classification. Functional class of stable angina was defined according to Canadian Cardiovascular Society classification (1970,1976). The obtained data was analyzed using descriptive statistics methods.Results. Average age of patients was 65,4 +– 3,27; 78% of the patients were men. On an emergency basis were hospitalized 30,9% from group I, 27,6% from group 2, and 31,3% from group III. In group I more often were recorded hypertension I + arterial hypertension I (32,5%) and hypertension II + arterial hypertension II (40,2%). In group II effort angina was recorded in 30 cases (38%). Congestive heart failure occurred among 153 patients (20,9%); most often it occurred among patients from III – in 102 cases (35,2%). In the whole sample, congestive heart failure of I and II degrees prevailed – in 88 (12%) and 57 (7,9%) patients. Kidney stones were found in 59,4% of patients, in the ureters – in 30,9% of patients, in kidneys and in the ureters – in 9,9% of patients. Share of the patients with kidney stones in the shape of corals is 3,4% of the whole sample. Average sizes of kidney stones of the patients with congestive heart failure are 9,2–11,8 mm which is different from the sizes in whole sample – 6,9–9,5 mm.Conclusion. During the observation period, share of the patients with first time revealed urolithiasis, complicated with the cardiovascular diseases (CVD) increased in 1,9 times (16,7 versus 31,7%). Congestive heart failure, which was registered in 20,9% of patients, was charged with I and II degrees. The presence chronic cardiovascular diseases (CVD), especially complicated by congestive heart failure in patients with first time revealed nephrolithiasis, implies changes in the algorithms of metaphylactic of nephrolithiasis (regime of water loads, selection of diuretics and anticoagulants).
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Yetkin, Ertan, and Selcuk Ozturk. "Dilating Vascular Diseases: Pathophysiology and Clinical Aspects." International Journal of Vascular Medicine 2018 (August 26, 2018): 1–9. http://dx.doi.org/10.1155/2018/9024278.
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Atherosclerotic disease of the vessels is a significant problem affecting mortality and morbidity all over the world. However, dilatation of the vessels either in the arterial system or in the venous territory is another vessel disease. Varicocele, pelvic, and peripheral varicose veins and hemorrhoids are aneurysms of the venous vascular regions and have been defined as dilating venous disease, recently. Coronary artery ectasia, intracranial aneurysm, and abdominal aortic aneurysm are examples of arterial dilating vascular diseases. Mostly, they have been defined as variants of atherosclerosis. Although there are some similarities in terms of pathogenesis, they are distinct from atherosclerotic disease of the vessels. In addition, pathophysiological and histological similarities and clinical coexistence of these diseases have been demonstrated both in the arterial and in the venous system. This situation underlies the thought that dilatation of the vessels in any vascular territory should be considered as a systemic vessel wall disease rather than being a local disease of any vessel. These patients should be evaluated for other dilating vascular diseases in a systematic manner.
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Alizad, Azra, and James B. Seward. "Echocardiographic Features of Genetic Diseases: Part 8. Organ System." Journal of the American Society of Echocardiography 13, no. 8 (August 2000): 796–800. http://dx.doi.org/10.1067/mje.2000.102340.
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Zalewska, Magdalena. "Co-occurrence of depressive disorders and cardiovascular diseases – selected aspects." Psychiatria i Psychologia Kliniczna 20, no. 3 (November 30, 2020): 183–90. http://dx.doi.org/10.15557/pipk.2020.0023.
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Depressive disorders are a common problem in patients with cardiovascular diseases. They are associated with increased mortality, disability, increased healthcare expenditure and reduced quality of life. Depression occurs in 1 in 5 patients with coronary artery disease, peripheral arterial disease or heart failure. It significantly complicates the optimal management of a patient with cardiovascular disease, primarily by reducing compliance with healthy lifestyle principles and therefore reducing the effectiveness of recommended therapeutic methods. The mechanisms responsible for unfavorable prognosis in patients with cardiovascular disease and depression are associated with lifestyle factors, autonomic dysfunction, neuroendocrine disorders, inflammation, immune system dysfunction, insulin resistance and increased platelet reactivity. These mechanisms significantly interact in the regulation of both cardiovascular and central nervous system functions. Therefore, it is important to perform prompt and complete diagnosis of depression in a particular patient with cardiovascular disease, and to implement optimal therapeutic management from the psychiatric and cardiological point of view. In recent years, interest in the effect of antidepressants on cardiac parameters in patients with depression has increased. The assessment of the safety and efficacy of antidepressant therapy in the treatment of cardiac patients with depression is also important due to the fact that depression in these patients is often accompanied by other significant comorbidities such as diabetes, hypertension and tobacco addiction. The aim of this study was to review the most important aspects necessary in the cooperation of a psychiatrist and cardiologist that may enable the most effective treatment of patients with depressive disorders coexisting with selected cardiovascular diseases.
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Genovesi, Simonetta, and Gianfranco Parati. "Cardiovascular Risk in Children: Focus on Pathophysiological Aspects." International Journal of Molecular Sciences 21, no. 18 (September 10, 2020): 6612. http://dx.doi.org/10.3390/ijms21186612.
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Cardiovascular diseases are the leading cause of death, disability, and health care costs in industrialized countries. In general, cardiovascular diseases occur in adulthood, but cardiovascular damage, including stiffening of the arteries, begins very early. Already in the first decade of life, alterations that will favor the formation of atherosclerotic plaques may be present. Cardiovascular risk factors, associated with genetic predisposition, may trigger a sequence of pathophysiological changes which are associated with the progression of the atherosclerosis process. In this frame, the role of obesity has been increasingly emphasized. Different mechanisms linking obesity to cardiovascular disease have been postulated. Endothelial dysfunction and subclinical inflammation seem to be related to the worsening of cardiovascular risk factors in obese subjects and might have an essential role in the development of insulin resistance and the initiation and progression of atherosclerotic lesions. Excess weight, and in particular visceral adiposity, are associated with hypertrophy and hyperplasia of the adipocytes, increased secretion of adipokines and inflammatory cytokines and increase in serum uric acid levels. The list of obesity-related biomarkers associated with cardiovascular damage is rapidly expanding and their importance has already been described in children as well. Pathophysiological changes involved in determining early cardiovascular damage starting from childhood are discussed in this Special Issue.
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Vasilev, V. V., N. V. Rogozina, and A. A. Grineva. "Molecular genetic and clinical aspects of socially relevant viruses underlying congenital diseases." Russian Journal of Infection and Immunity 11, no. 4 (September 20, 2021): 635–48. http://dx.doi.org/10.15789/2220-7619-mga-1729.
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Congenital viral infectious diseases are characterized by polyetiologic pathology holding an important place in the structure of perinatal losses. Due to the wide distribution and lack of specific prophylaxis, the problem of herpesvirus infections is of greatest interest, namely of herpes infection caused by herpes simplex virus type 1 and 2, human herpes simplex virus type 6 and cytomegalovirus infection, as well as parvovirus infection B19. The opportunities to investigate a relation between manifestations of the infectious process and host molecular genetic characteristics have been expanded after developing full genome sequencing methods and creating genetic data international banks. It has been proven that herpes virus genetic variations can account for related neurovirulence, showing that diverse cytomegalovirus genotypes are associated with hepatosplenomegaly, hearing impairment and the symptoms of the central nervous system diseases. Nevertheless, the data on correlation between genotypes and clinical manifestations are still scarce and contradictory, whereas high level of variability becomes extremely evident while comparing genomic sequences of viral strains. The herpesvirus type 6 has been proven to integrate into germ cells with potential for subsequent vertical transmission of chromosomally integrated virus to the offspring and its further intergeneration inheritance. А direct relationship between B19V genospecies and disease manifestations including congenital infections has not yet been identified. Taking into account possible differences in the geographical distribution of such viruses on the territory of the Russian Federation, ethnic populational characteristics, and high frequency of related congenital infectious diseases with a wide range of clinical manifestations, it seems promising to expand scientific research on the genotyping of herpes simplex viruses, cytomegalovirus, herpes viruses type 6 and parvovirus B19V in Russia. The results of such studies will be demanded by practical healthcare in order to develop and use more effective etiotropic drugs and specific prophylaxis in the light of trends to develop personalized and preventive medicine.
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Pavlov, S. V., and K. A. Burlaka. "MODERN MOLECULAR-GENETIC MARKERS IN DIAGNOSTICS AND SCREENING OF EFFICIENCY OF CARDIOVASCULAR DISEASES THERAPY OF CARDIOVASCULAR SYSTEM." Bulletin of Problems Biology and Medicine 1, no. 2 (2018): 49. http://dx.doi.org/10.29254/2077-4214-2018-2-144-49-55.
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Saryeva, Olga P., Ludmila V. Kulida, Elena V. Protsenko, and Maria V. Malysheva. "Cardiomyopathy in children – clinical, genetic and morphological aspects." I.P. Pavlov Russian Medical Biological Herald 28, no. 1 (April 9, 2020): 99–110. http://dx.doi.org/10.23888/pavlovj202028199-110.
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Cardiomyopathy is one of serious and complex problems of pediatric cardiology. Many of them are the cause of sudden death and are familial in character. Disappointing statistics increases the relevance of the problem of cardiomyopathy and dictates the need for in-depth study of the etiology and pathogenesis, structural bases and experience in clinical and morphological diagnosis of this pathology in children. Of particular importance from a practical point of view is the development of prognostic factors in primary and secondary cardiomyopathies. This literature review provides information on the etiology, pathogenesis, clinical manifestations, pathomorphological changes and outcomes of such cardiomyopathies as hypertrophic, dilated cardiomyopathies, non-compact left ventricular myocardium and histiocytoid cardiomyopathy. Peculiarities of restructure of the myocardium in the analyzed cardiomyopathies and their relationship with systolic and diastolic myocardial dysfunction are shown. Molecular genetic aspects of diagnosis of etiology and pathogenesis of this pathology in children are given in detail. The necessity of systematic pathomorphological study of the heart with full analysis of contractile, conducting microcirculatory and neuroautonomic structures in considered variants of cardiovascular pathology is emphasized. These data will help outline future research priorities for this group of diseases to provide earlier diagnosis, improve clinical outcomes and the quality of life of these children and their families.
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Souza, Paulo Victor Sgobbi de, Wladimir Bocca Vieira de Rezende Pinto, and Acary Souza Bulle Oliveira. "C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases." Arquivos de Neuro-Psiquiatria 73, no. 3 (March 2015): 246–56. http://dx.doi.org/10.1590/0004-282x20140229.
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Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. In the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC) of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.
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Corti, Roberto, Christian Binggeli, Isabella Sudano, Lukas E. Spieker, René R. Wenzel, Thomas F. Lüscher, and Georg Noll. "The Beauty and the Beast: Aspects of the Autonomic Nervous System." Physiology 15, no. 3 (June 2000): 125–29. http://dx.doi.org/10.1152/physiologyonline.2000.15.3.125.
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Sympathetic nerve activity is altered and is a prognostic factor for many cardiovascular diseases such as hypertension, coronary syndromes, and congestive heart failure. Therefore, the selection of vasoactive drugs for the treatment of these diseases should also take into consideration their effects on the sympathetic nervous system.
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Spasojević Kosić, Ljubica, and Dragiša R. Trailović. "CHANGES UN CARDIOVASCULAR SYSTEM OF DOGS DUE TO AGEING." Archives of Veterinary Medicine 3, no. 2 (December 28, 2010): 35–46. http://dx.doi.org/10.46784/e-avm.v3i2.201.
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The characteristics of aging and the changes of cardiovascular system with aging are important in clinical decision making and in designing preventive measures. Studies of aging in dogs represent paradigm in biomedical researches. Aging leads to numerous changes of cardiovascular system, which could be looked from morphological, functional, endocrinological, genetic and biochemical points of view. These aspects of aging enable many diagnostic procedures, therapeutic procedures and preventive measures as well. In this paper special emphasis was put on changes of cardiovascular system, caused by aging, which are clinically free to registered or may be affected by therapy or prophylaxis.
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Almugbel, Zainab. "Bilingual Summarization of English and Arabic Genetic Diseases Texts." International Journal for Innovation Education and Research 9, no. 9 (September 1, 2021): 342–73. http://dx.doi.org/10.31686/ijier.vol9.iss9.3349.
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Health Literacy aims at empowering patients to take better decisions about their health. The quality of Health Literacy for patients with genetic diseases can be enriched via facilitating the bilingual retrieval of summaries about the genetic diseases texts from the net. This paper proposes helps translator to achieve this task by utilizing NLP and Recurrent Neural Network (RNN) techniques for two tasks: generating abstractive summarizations and making Arabic-English translation. Both summarization and translation tasks require training sets that can be built from English summaries corpus and Arabic-English parallel corpora. The English summaries corpus is built from Orphadata while the parallel corpora is built from Wiki articles. The corpus is utilized for generating the English summaries from the Wiki articles, and the corpora is utilized for translating these summaries into Arabic. This paper defines the research problem. Then, it investigates a set of objectives to solve the problem. After that, it presents a literature review of the tasks in the objectives. Finally, it discusses the proposed solution for the problem from the following aspects: the required corpora, the system architecture, the RNN memory cell components architectures, the proposed software for the implementation, and the system evaluation.
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Duan, Sheng Zhong, Christine Y. Ivashchenko, Michael G. Usher, and Richard M. Mortensen. "PPAR-γin the Cardiovascular System." PPAR Research 2008 (2008): 1–10. http://dx.doi.org/10.1155/2008/745804.
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Peroxisome proliferator-activated receptor-γ(PPAR-γ), an essential transcriptional mediator of adipogenesis, lipid metabolism, insulin sensitivity, and glucose homeostasis, is increasingly recognized as a key player in inflammatory cells and in cardiovascular diseases (CVD) such as hypertension, cardiac hypertrophy, congestive heart failure, and atherosclerosis. PPAR-γagonists, the thiazolidinediones (TZDs), increase insulin sensitivity, lower blood glucose, decrease circulating free fatty acids and triglycerides, lower blood pressure, reduce inflammatory markers, and reduce atherosclerosis in insulin-resistant patients and animal models. Human genetic studies on PPAR-γhave revealed that functional changes in this nuclear receptor are associated with CVD. Recent controversial clinical studies raise the question of deleterious action of PPAR-γagonists on the cardiovascular system. These complex interactions of metabolic responsive factors and cardiovascular disease promise to be important areas of focus for the future.
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Saki, Sara, Nader Saki, Hossein Poustchi, and Reza Malekzadeh. "Assessment of Genetic Aspects of Non-alcoholic Fatty Liver and Premature Cardiovascular Events." Middle East Journal of Digestive Diseases 12, no. 2 (May 12, 2020): 65–88. http://dx.doi.org/10.34172/mejdd.2020.166.
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Recent evidence has demonstrated a strong interplay and multifaceted relationship between non-alcoholic fatty liver disease (NAFLD) and cardiovascular disease (CVD). CVD is the major cause of death in patients with NAFLD. NAFLD also has strong associations with diabetes and metabolic syndrome. In this comprehensive review, we aimed to overview the primary environmental and genetic risk factors of NAFLD, and CVD and also focus on the genetic aspects of these two disorders. NAFLD and CVD are both heterogeneous diseases with common genetic and molecular pathways. We have searched for the latest published articles regarding this matter and tried to provide an overview of recent insights into the genetic aspects of NAFLD and CVD. The common genetic and molecular pathways involved in NAFLD and CVD are insulin resistance (IR), subclinical inflammation, oxidative stress, and atherogenic dyslipidemia. According to an investigation, the exact associations between genomic characteristics of NAFLD and CVD and casual relationships are not fully determined. Different gene polymorphisms have been identified as the genetic components of the NAFLDCVD association. Some of the most documented ones of these gene polymorphisms are patatin-like phospholipase domain-containing protein 3 (PNPLA3), transmembrane 6 superfamily member 2 (TM6SF2), hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13), adiponectin-encoding gene (ADIPOQ), apolipoprotein C3 (APOC3), peroxisome proliferator-activated receptors (PPAR), leptin receptor (LEPR), sterol regulatory element-binding proteins (SREBP), tumor necrosis factor-alpha (TNF-α), microsomal triglyceride transfer protein (MTTP), manganese superoxide dismutase (MnSOD), membrane-bound O-acyltransferase domain-containing 7 (MBOAT7), and mutation in DYRK1B that substitutes cysteine for arginine at position 102 in kinase-like domain. Further cohort studies with a significant sample size using advanced genomic assessments and next-generation sequencing techniques are needed to shed more light on genetic associations between NAFLD and CVD.
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Amaya-Amaya, Jenny, Laura Montoya-Sánchez, and Adriana Rojas-Villarraga. "Cardiovascular Involvement in Autoimmune Diseases." BioMed Research International 2014 (2014): 1–31. http://dx.doi.org/10.1155/2014/367359.
Full textAbstract:
Autoimmune diseases (AD) represent a broad spectrum of chronic conditions that may afflict specific target organs or multiple systems with a significant burden on quality of life. These conditions have common mechanisms including genetic and epigenetics factors, gender disparity, environmental triggers, pathophysiological abnormalities, and certain subphenotypes. Atherosclerosis (AT) was once considered to be a degenerative disease that was an inevitable consequence of aging. However, research in the last three decades has shown that AT is not degenerative or inevitable. It is an autoimmune-inflammatory disease associated with infectious and inflammatory factors characterized by lipoprotein metabolism alteration that leads to immune system activation with the consequent proliferation of smooth muscle cells, narrowing arteries, and atheroma formation. Both humoral and cellular immune mechanisms have been proposed to participate in the onset and progression of AT. Several risk factors, known as classic risk factors, have been described. Interestingly, the excessive cardiovascular events observed in patients with ADs are not fully explained by these factors. Several novel risk factors contribute to the development of premature vascular damage. In this review, we discuss our current understanding of how traditional and nontraditional risk factors contribute to pathogenesis of CVD in AD.
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Hsu, Chien-Ning, Chih-Yao Hou, Wei-Hsuan Hsu, and You-Lin Tain. "Cardiovascular Diseases of Developmental Origins: Preventive Aspects of Gut Microbiota-Targeted Therapy." Nutrients 13, no. 7 (July 1, 2021): 2290. http://dx.doi.org/10.3390/nu13072290.
Full textAbstract:
Cardiovascular diseases (CVDs) can originate from early life. Accumulating evidence suggests that gut microbiota in early life is linked to CVDs in later life. Gut microbiota-targeted therapy has gained significant importance in recent decades for its health-promoting role in the prevention (rather than just treatment) of CVDs. Thus far, available gut microbiota-based treatment modalities used as reprogramming interventions include probiotics, prebiotics, and postbiotics. The purpose of this review is, first, to highlight current studies that link dysbiotic gut microbiota to the developmental origins of CVD. This is followed by a summary of the connections between the gut microbiota and CVD behind cardiovascular programming, such as short chain fatty acids (SCFAs) and their receptors, trimethylamine-N-oxide (TMAO), uremic toxins, and aryl hydrocarbon receptor (AhR), and the renin-angiotensin system (RAS). This review also presents an overview of how gut microbiota-targeted reprogramming interventions can prevent the developmental origins of CVD from animal studies. Overall, this review reveals that recent advances in gut microbiota-targeted therapy might provide the answers to reduce the global burden of CVDs. Still, additional studies will be needed to put research findings into practice.
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San José, Gorka, Ana Fortuño, Óscar Beloqui, Javier Díez, and Guillermo Zalba. "NADPH oxidase CYBA polymorphisms, oxidative stress and cardiovascular diseases." Clinical Science 114, no. 3 (January 8, 2008): 173–82. http://dx.doi.org/10.1042/cs20070130.
Full textAbstract:
Oxidative stress plays a key role in the pathophysiology of several major cardiovascular diseases, including atherosclerosis, hypertension, heart failure, stroke and diabetes. ROS (reactive oxygen species) affect multiple tissues either directly or through NO depletion. ROS induce cardiovascular dysfunction by modulating cell contraction/dilation, migration, growth/apoptosis and extracellular matrix protein turnover, which contribute to vascular and cardiac remodelling. Of the several sources of ROS within the cardiovascular system, a family of multisubunit NADPH oxidases appears to be a predominant contributor of superoxide anion. Recent findings suggest a significant role of the genetic background in NADPH oxidase regulation. Common genetic polymorphisms within the promoter and exonic sequences of CYBA, the gene that encodes the p22phox subunit of NADPH oxidase, have been characterized in the context of cardiovascular diseases. This review aims to present the current state of research into these polymorphisms in their relationship to cardiovascular diseases.
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Dahout-Gonzalez, C., H. Nury, V. Trézéguet, G. J. M. Lauquin, E. Pebay-Peyroula, and G. Brandolin. "Molecular, Functional, and Pathological Aspects of the Mitochondrial ADP/ATP Carrier." Physiology 21, no. 4 (August 2006): 242–49. http://dx.doi.org/10.1152/physiol.00005.2006.
Full textAbstract:
In providing the cell with ATP generated by oxidative phosphorylation, the mitochondrial ADP/ATP carrier plays a central role in aerobic eukaryotic cells. Combining biochemical, genetic, and structural approaches contributes to understanding the molecular mechanism of this essential transport system, the dysfunction of which is implicated in neuromuscular diseases.
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Liên, Nguyễn Thị Kim, and Nguyễn Huy Hoàng. "The genetic basis of psoriasis." Vietnam Journal of Biotechnology 14, no. 2 (June 30, 2016): 197–207. http://dx.doi.org/10.15625/1811-4989/14/2/9331.
Full textAbstract:
Psoriasis is a chronic dermatitis disease. Although the disease is not dangerous but it affects patients’s life in many aspects and involving a large number of people in the world. Besides that, psoriasis related to many other diseases such as metabolic disorder, diabetes, cardiovascular disease or can develop into servere arthritis and psoriasis arthritis leading to joint deformities. HLAC gene located on chromosome 6 (locus PSORS1) is known to have an important role in the susceptibility of disease. Besides, investigations showed that psoriasis is controlled by many loci and genes. By using traditional methods and genome wide association studies (GWAS) have been identified 13 loci and many genes involved of disease. However, the role of each locus and gene influence to the susceptibility of disease, presentation of disease, time onset and the links with other diseases have not yet been defined clearly. Among the relevant loci, the PSORS1 locus still considered the main influence on the susceptibility of disease. Noteworthy, the factors of age, gender and race have influences to the disease manifestation of different loci. The studies also provides evidences of the relation of proriasis and increasing risk cardiovascular, hypertension, diabetes and other diseases. So that, by understanding the genetic basis of the disease, the doctors and patients can get orientation in prevention, treatment and minimizing the impact of the disease. In this article, we give a clearer view of the genetic basis of psoriasis.