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1
Penyaeva, Elena V. "Genetic aspects of Ebstein anomaly and related heart diseases". Annals of the Russian academy of medical sciences 76, nr 1 (12.04.2021): 67–74. http://dx.doi.org/10.15690/vramn1228.
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Ebstein anomaly is a congenital heart disease, which is characterized by the presence of atrialized portion of the right ventricle, formed as a result of displacement of the tricuspid valve leaflets into the right ventricle and their partial adherence to the underlying myocardium. Atrialized portion in the right ventricle occupies the space between the fibrous annulus of the right atrioventricular orifice and the functional annulus of tricuspid valve, which represents a zone of closure of free (non-adherent to the underlying myocardium) edges of its leaflets. Ebstein anomaly is very rarely isolated, and can be combined with a number of heart diseases and be an integral part of hereditary syndromes. Currently, the role of genetic research in the investigation of the etiology of human diseases as well as understanding of the relationship between different diseases is increasing. The review presents literature data on the combination of Ebstein anomaly with other heart diseases (congenital heart diseases, Wolf-Parkinson-White syndrome, cardiomyopathies, including left ventricular noncompaction), inter alia, within the scope of hereditary syndromes (Noonan syndrome, 8p deletion syndrome, 18q deletion syndrome, 1p36 deletion syndrome, Pierre Robin syndrome). Genetic factors (gene and chromosomal mutations) lying at the core of Ebstein anomaly, as well as heart diseases combined with it, are highlighted. The analysis of published data suggests that Ebstein anomaly is a monogenic disease, and is characterized by allelic and locus genetic heterogeneity. The combination of Ebstein anomaly with other heart diseases is based on their genetic linkage.
2
Łój, Magdalena, Magdalena Garncarz i Michał Jank. "Genomic and genetic aspects of heart failure in dogs — A review". Acta Veterinaria Hungarica 60, nr 1 (1.03.2012): 17–26. http://dx.doi.org/10.1556/avet.2012.002.
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The most common causes of heart failure in dogs are valvular disease, predominantly endocardiosis, and myocardial disease, predominantly dilated cardiomyopathy. They are related to changes in the expression of several genes in the heart muscle and in peripheral blood nuclear cells which could be considered as prognostic or diagnostic markers of heart disease in dogs. Since many human genetic markers of heart failure have turned out to be useless in dogs, the screening for genomic markers of canine heart failure could give more insight into the molecular pathology of these diseases and aid the development of new treatment strategies.
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Ellingwood, Sara S., i Alan Cheng. "Biochemical and clinical aspects of glycogen storage diseases". Journal of Endocrinology 238, nr 3 (wrzesień 2018): R131—R141. http://dx.doi.org/10.1530/joe-18-0120.
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The synthesis of glycogen represents a key pathway for the disposal of excess glucose while its degradation is crucial for providing energy during exercise and times of need. The importance of glycogen metabolism is also highlighted by human genetic disorders that are caused by mutations in the enzymes involved. In this review, we provide a basic summary on glycogen metabolism and some of the clinical aspects of the classical glycogen storage diseases. Disruptions in glycogen metabolism usually result in some level of dysfunction in the liver, muscle, heart, kidney and/or brain. Furthermore, the spectrum of symptoms observed is very broad, depending on the affected enzyme. Finally, we briefly discuss an aspect of glycogen metabolism related to the maintenance of its structure that seems to be gaining more recent attention. For example, in Lafora progressive myoclonus epilepsy, patients exhibit an accumulation of inclusion bodies in several tissues, containing glycogen with increased phosphorylation, longer chain lengths and irregular branch points. This abnormal structure is thought to make glycogen insoluble and resistant to degradation. Consequently, its accumulation becomes toxic to neurons, leading to cell death. Although the genes responsible have been identified, studies in the past two decades are only beginning to shed light into their molecular functions.
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Saryeva, Olga P., Ludmila V. Kulida, Elena V. Protsenko i Maria V. Malysheva. "Cardiomyopathy in children – clinical, genetic and morphological aspects". I.P. Pavlov Russian Medical Biological Herald 28, nr 1 (9.04.2020): 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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Ferrari, Marta, i Stefano Stagi. "Autoimmunity and Genetic Syndromes: A Focus on Down Syndrome". Genes 12, nr 2 (13.02.2021): 268. http://dx.doi.org/10.3390/genes12020268.
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Within immune system-related diseases, autoimmunity has always represented a field of great interest, although many aspects remain poorly understood even today. Genetic syndromes associated with immunity disorders are common and represent an interesting model for a better understanding of the underlying mechanism of autoimmunity predisposition. Among these conditions, Down syndrome (DS) certainly deserves special attention as it represents the most common genetic syndrome associated with immune dysregulation, involving both innate and adaptive immunity. Autoimmunity represents a well-known complication of DS: it is estimated that people affected by this disease present a risk four to six times higher than the normal population to develop autoimmune diseases such as celiac disease, type 1 diabetes mellitus, and hypo- or hyperthyroidism. Several factors have been considered as possible etiology, including genetic and epigenetic modifications and immune dysregulation. In times in which the life expectancy of people with DS has been extremely prolonged, thanks to improvements in the diagnosis and treatment of congenital heart disease and infectious complications, knowledge of the mechanisms and proper management of autoimmune diseases within this syndrome has become essential. In this short review, we aim to report the current literature regarding the genetic, immune, and environmental factors that have been proposed as the possible underlying mechanism of autoimmunity in individuals with DS, with the intent to provide insight for a comprehensive understanding of these diseases in genetic syndromes.
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Protasoni, Margherita, i Massimo Zeviani. "Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions". International Journal of Molecular Sciences 22, nr 2 (8.01.2021): 586. http://dx.doi.org/10.3390/ijms22020586.
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Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and involved in various aspects of cellular life, with a primary role in energy production. The interest in this organelle has grown stronger with the discovery of their link to various pathologies, including cancer, aging and neurodegenerative diseases. Indeed, dysfunctional mitochondria cannot provide the required energy to tissues with a high-energy demand, such as heart, brain and muscles, leading to a large spectrum of clinical phenotypes. Mitochondrial defects are at the origin of a group of clinically heterogeneous pathologies, called mitochondrial diseases, with an incidence of 1 in 5000 live births. Primary mitochondrial diseases are associated with genetic mutations both in nuclear and mitochondrial DNA (mtDNA), affecting genes involved in every aspect of the organelle function. As a consequence, it is difficult to find a common cause for mitochondrial diseases and, subsequently, to offer a precise clinical definition of the pathology. Moreover, the complexity of this condition makes it challenging to identify possible therapies or drug targets.
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Protasoni, Margherita, i Massimo Zeviani. "Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions". International Journal of Molecular Sciences 22, nr 2 (8.01.2021): 586. http://dx.doi.org/10.3390/ijms22020586.
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Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and involved in various aspects of cellular life, with a primary role in energy production. The interest in this organelle has grown stronger with the discovery of their link to various pathologies, including cancer, aging and neurodegenerative diseases. Indeed, dysfunctional mitochondria cannot provide the required energy to tissues with a high-energy demand, such as heart, brain and muscles, leading to a large spectrum of clinical phenotypes. Mitochondrial defects are at the origin of a group of clinically heterogeneous pathologies, called mitochondrial diseases, with an incidence of 1 in 5000 live births. Primary mitochondrial diseases are associated with genetic mutations both in nuclear and mitochondrial DNA (mtDNA), affecting genes involved in every aspect of the organelle function. As a consequence, it is difficult to find a common cause for mitochondrial diseases and, subsequently, to offer a precise clinical definition of the pathology. Moreover, the complexity of this condition makes it challenging to identify possible therapies or drug targets.
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Pedersen, Maria Weinkouff, Kristian Ambjørn Groth, Kristian Havmand Mortensen, John Brodersen, Claus Højbjerg Gravholt i Niels Holmark Andersen. "Clinical and pathophysiological aspects of bicuspid aortic valve disease". Cardiology in the Young 29, nr 1 (30.10.2018): 1–10. http://dx.doi.org/10.1017/s1047951118001658.
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AbstractA bicuspid aortic valve is not only a common congenital heart defect but also an enigmatic condition that can cause a large spectrum of diseases, such as aortic valve stenosis and severe heart failure in newborns whereas aortic dissection in adults. On the contrary, a bicuspid aortic valve can also occur with normal function throughout life and never need treatment. Numerous genetic mechanisms are involved in the abnormal cellular functions that may cause abnormal development of the aortic valve during early foetal life. As several chromosomal disorders are also associated with a bicuspid valve, there does not appear to be an apparent common trigger to the abnormal development of the aortic valve. The clinical care of the bicuspid aortic valve patient has been changed by a significant body of evidence that has improved the understanding of the natural history of the disease, including when to best intervene with valve replacement and when to provide prophylactic aortic root surgery. Moreover, as bicuspid valve disease is also part of various syndromes, we can identify high-risk patients in whom a bicuspid valve is much more unfavourable than in the normal population. This review provides an overview of all aspects of the bicuspid aortic valve condition and gives an updated perspective on issues from pathophysiology to clinical care of bicuspid aortic valve disease and associated aortic disease in asymptomatic, symptomatic, and pregnant patients, as well as our viewpoint on population screening.
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Alper, Joseph S. "Does the ADA Provide Protection Against Discrimination on the Basis of Genotype?" Journal of Law, Medicine & Ethics 23, nr 2 (1995): 167–72. http://dx.doi.org/10.1111/j.1748-720x.1995.tb01346.x.
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As a consequence of the problems caused by genetic discrimination, federal and state law makers are being pressured to pass a legislative remedy. A primary question is whether the Americans with Disabilities Act of 1990 (ADA) applies to (1) individuals with a potentially disabling genetic disorder who are pre-symptomatic or asymptomatic and may never become ill and to (2) healthy individuals who are carriers of genetic conditions. At present, this question has relevance principally for individuals with the genotype for single gene disorders, like Huntington disease and hemochromatosis, and to asymptomatic carriers of single gene disorders such as cystic fibrosis. Although many such single gene conditions exist, the total incidence of these conditions in the U.S. population is less than 0.4 percent. However, the question concerning the applicability of the ADA will become increasingly important because genetic tests will almost certainly be developed in the near future for common multifactorial diseases like diabetes, heart disease, and certain forms of cancer.
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Li, Suyi, Feng Li, Shijie Tang i Wenji Xiong. "A Review of Computer-Aided Heart Sound Detection Techniques". BioMed Research International 2020 (10.01.2020): 1–10. http://dx.doi.org/10.1155/2020/5846191.
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Cardiovascular diseases have become one of the most prevalent threats to human health throughout the world. As a noninvasive assistant diagnostic tool, the heart sound detection techniques play an important role in the prediction of cardiovascular diseases. In this paper, the latest development of the computer-aided heart sound detection techniques over the last five years has been reviewed. There are mainly the following aspects: the theories of heart sounds and the relationship between heart sounds and cardiovascular diseases; the key technologies used in the processing and analysis of heart sound signals, including denoising, segmentation, feature extraction and classification; with emphasis, the applications of deep learning algorithm in heart sound processing. In the end, some areas for future research in computer-aided heart sound detection techniques are explored, hoping to provide reference to the prediction of cardiovascular diseases.
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Saveleva, N. N., I. I. Sokolova, S. I. German i T. V. Tomilina. "SOME ASPECTS OF THE EATIOLOGY OF PARODONTUS DISEASES. (LITERATURE REVIEW)". Ukrainian Dental Almanac, nr 2 (25.06.2018): 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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Walker, Rebecca L., Eric T. Juengst, Warren Whipple i Arlene M. Davis. "Genomic Research with the Newly Dead: A Crossroads for Ethics and Policy". Journal of Law, Medicine & Ethics 42, nr 2 (2014): 220–31. http://dx.doi.org/10.1111/jlme.12137.
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Research uses of human bodies maintained by mechanical ventilation after being declared dead by neurological criteria (“heart-beating cadavers”), were first published in the early 1980s with a renewed interest in research on the newly or nearly dead occurring in about last decade. While this type of research may take many different forms, recent technologic advances in genomic sequencing along with high hopes for genomic medicine, have inspired interest in genomic research with the newly dead. For example, the Genotype-Tissue Expression (GTEx) program through the National Institutes of Health aims to collect large numbers of diverse human tissues with the eventual goal of elucidating the genetic bases of common diseases through a better understanding of the relationship between genetic variation and gene expression.
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Khaw, Kay-Tee. "Epidemiological aspects of ageing". Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 352, nr 1363 (29.12.1997): 1829–35. http://dx.doi.org/10.1098/rstb.1997.0168.
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A major societal challenge is to improve quality of life and prevent or reduce disability and dependency in an ageing population. Increasing age is associated with increasing risk of disability and loss of independence, due to functional impairments such as loss of mobility, hearing and vision; a major issue must be how far disability can be prevented. Ageing is associated with loss of bone tissue, reduction in muscle mass, reduced respiratory function, decline in cognitive function, rise in blood pressure and macular degeneration which predispose to disabling conditions such as osteoporosis, heart disease, dementia and blindness. However, there are considerable variations in different communities in terms of the rate of age–related decline. Large geographic and secular variations in the age–adjusted incidence of major chronic diseases such as stroke, hip fracture, coronary heart disease, cancer, visual loss from cataract, glaucoma and macular degeneration suggest strong environmental determinants in diet, physical activity and smoking habit. The evidence suggests that a substantial proportion of chronic disabling conditions associated with ageing are preventable, or at least postponable and not an inevitable accompaniment of growing old. Postponement or prevention of these conditions may not only increase longevity, but, more importantly, reduce the period of illnesses such that the majority of older persons may live high–quality lives, free of disability, until very shortly before death. We need to understand better the factors influencing the onset of age–related disability in the population, so that we have appropriate strategies to maintain optimal health in an ageing population.
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Leite, Tulio Fabiano de Oliveira, Lucas Alves Sarmento Pires, Rafael Cisne, Marcio Antonio Babinski i Carlos Alberto Araujo Chagas. "Clinical discussion of the arteria lusoria: a case report". Jornal Vascular Brasileiro 16, nr 4 (4.12.2017): 339–42. http://dx.doi.org/10.1590/1677-5449.007617.
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Abstract The right subclavian artery may originate from the left portion of the aortic arch. This aberrant vessel is known as the arteria lusoria. Its course to its usual site runs behind the esophagus, which may cause a disease known as dysphagia lusoria, responsible for symptoms of discomfort. This artery is often associated with other anomalies, such as the non-recurrent laryngeal nerve and the bicarotid trunk, and with diseases such as aneurysms, congenital heart defects, and even genetic syndromes. During routine dissection of a male cadaver fixed in 10% formalin solution, an arteria lusoria was found. This article reports the variation and discusses its embryological, clinical and surgical aspects.
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Somerville, Martha H., Laura Seeff, Daniel Hale i Daniel J. O'Brien. "Hospitals, Collaboration, and Community Health Improvement". Journal of Law, Medicine & Ethics 43, S1 (2015): 56–59. http://dx.doi.org/10.1111/jlme.12217.
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Medical care in the United States traditionally has focused on the treatment of disease rather than on its prevention. Heart disease, cancer, hypertension, diabetes, and other chronic diseases are the primary drivers of American health care costs; compared to other high-income countries, U.S. health indices are lowest and costs are highest.A “triple aim” — “improving the individual experience of care, improving the health of populations, and reducing the per capita costs of care for populations” — has gained traction, as the social determinants of health (non-genetic, non-clinical factors including health behaviors, social and economic factors, and the physical environment) are recognized as having significant effects on health outcomes.
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Khidirova, L. D., A. Kh Magomedova, A. A. Vasilenko i V. S. Dudchenko. "Fabry’s disease in cardiological aspect". Medical alphabet, nr 7 (16.06.2020): 22–27. http://dx.doi.org/10.33667/2078-5631-2020-7-22-27.
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Hereditary genetic X-linked disease Fabry’s disease belongs to the group of lysosomal accumulation diseases and is caused by mutations in the GLA gene and is characterized by a decrease in functional activity or complete absence of the enzyme α-galactosidase A. This pathology belongs to the group of orphan diseases. Mutation of the GLA gene leads to the formation of defective forms of the enzyme α-galactosidase A, which contributes to the violation of the catabolism of glycosphingolipids, their further accumulation in the lysosomes of various cell cultures, and the development of lysosomal cell dysfunction. The prevalence of Fabry disease is about 1 in 117,000 live-born boys. According to screening studies in newborns, this figure can be about 1 in 3,100 and affects to the same extent representatives of all ethnic groups. Fabri’s disease has become actively studied in Russia, but more than 5,000 people (according to estimates) remain undiagnosed. In the first place among the causes of death in Fabry’s disease is heart disease, in particular left ventricular hypertrophy with the subsequent development of diastolic dysfunction and heart failure. Heart rhythm disorders are often observed. Early diagnosis of Fabri disease will lead to the appointment of genotype-specific enzyme replacement therapy and reduce the risk of cardiovascular complications.
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Shakaryants, G. A., M. V. Kozhevnikova, V. Yu Kaplunova, E. V. Privalova, A. S. Lishuta, E. O. Korobkova i Yu N. Belenkov. "Focus on the Myocardial Hypertrophy from the Perspective of Transcriptomics and Metabolomics". Kardiologiia 60, nr 4 (4.05.2020): 120–29. http://dx.doi.org/10.18087/cardio.2020.4.n1063.
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This review presents major directions in studies of myocardial hypertrophy from the aspect of transcriptomics and metabolomics. Understanding of trigger mechanisms of myocardial hypertrophy will permit transition from basic studies to individualized clinical application of innovative technologies in the treatment of heart diseases, such as targeted therapy. At the present time, methods have been developed for diagnostics and prediction of cardiovascular diseases based on the metabolomic profiling and the evaluation of microRNA expression. Progress in studying molecular and genetic processes underlying the development of cardiovascular diseases may provide invaluable information for clinical cardiology.
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Franco, Diego, Carlos Garcia-Padilla, Jorge N. Dominguez, Estefania Lozano-Velasco i Amelia Aranega. "Cardiac Development: A Glimpse on Its Translational Contributions". Hearts 2, nr 1 (4.02.2021): 87–118. http://dx.doi.org/10.3390/hearts2010008.
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Cardiac development is a complex developmental process that is initiated soon after gastrulation, as two sets of precardiac mesodermal precursors are symmetrically located and subsequently fused at the embryonic midline forming the cardiac straight tube. Thereafter, the cardiac straight tube invariably bends to the right, configuring the first sign of morphological left–right asymmetry and soon thereafter the atrial and ventricular chambers are formed, expanded and progressively septated. As a consequence of all these morphogenetic processes, the fetal heart acquired a four-chambered structure having distinct inlet and outlet connections and a specialized conduction system capable of directing the electrical impulse within the fully formed heart. Over the last decades, our understanding of the morphogenetic, cellular, and molecular pathways involved in cardiac development has exponentially grown. Multiples aspects of the initial discoveries during heart formation has served as guiding tools to understand the etiology of cardiac congenital anomalies and adult cardiac pathology, as well as to enlighten novels approaches to heal the damaged heart. In this review we provide an overview of the complex cellular and molecular pathways driving heart morphogenesis and how those discoveries have provided new roads into the genetic, clinical and therapeutic management of the diseased hearts.
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Weber dos Santos, Rodrigo, Anders Nygren, Fernando Otaviano Campos, Hans Koch i Wayne R. Giles. "Experimental and theoretical ventricular electrograms and their relation to electrophysiological gradients in the adult rat heart". American Journal of Physiology-Heart and Circulatory Physiology 297, nr 4 (październik 2009): H1521—H1534. http://dx.doi.org/10.1152/ajpheart.01066.2008.
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The electrical activity of adult mouse and rat hearts has been analyzed extensively, often as a prerequisite for genetic engineering studies or for the development of rodent models of human diseases. Some aspects of the initiation and conduction of the cardiac action potential in rodents closely resemble those in large mammals. However, rodents have a much higher heart rate and their ventricular action potential is triangular and very short. As a consequence, an interpretation of the electrocardiogram in the mouse and rat remains difficult and controversial. In this study, optical mapping techniques have been applied to an in vitro left ventricular adult rat preparation to obtain patterns of conduction and action potential duration measurements from the epicardial surface. This information has been combined with previously published mathematical models of the rat ventricular myocyte to develop a bidomain model for action potential propagation and electrogram formation in the rat left ventricle. Important insights into the basis for the repolarization waveform in the ventricular electrogram of the adult rat have been obtained. Notably, our model demonstrated that the biphasic shape of the rat ventricular repolarization wave can be explained in terms of the transmural and apex-to-base gradients in action potential duration that exist in the rat left ventricle.
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Hidirova, L. D., D. A. Yakhontov, S. A. Zenin i V. N. Maximov. "Genetic markers of atrial fibrillation in patients with hypertension in combination with non-cardiac diseases". Patologiya krovoobrashcheniya i kardiokhirurgiya 23, nr 1 (9.07.2019): 83. http://dx.doi.org/10.21688/1681-3472-2019-1-83.
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<p><strong>Letter to the editor:</strong></p><p>The world medical community has categorised atrial fibrillation (AF) as one of the three cardiovascular ‘epidemics of the 21st century’, along with chronic heart failure and diabetes mellitus [1]. In recent years, the prevalence of AF has increasing steadily. However, the exact cause for the increase in the incidence of AF<br />cannot be explained only by the increase in life expectancy, prevalence of cardiac valve disease or prevalence of myocardial infarction [2].</p><p>Although AF occurs in individuals with various manifestations of coronary heart disease, it is increasingly being diagnosed in patients with arterial hypertension without coronary heart disease [3]. AF causes serious cardiovascular complications; thus, a deep understanding of its pathogenetic aspects and a comprehensive study that considers comorbid pathologies for identifying the predictors of the development and progression of AF are required [4].</p><p>Hereditary factors can play a significant role in the development of AF and hypertension; consequently, the worldwide practice of scientific research in basic medicine pays significant attention to the molecular genetics methods of analysis.</p><p>This study aimed to evaluate the genetic determinants in patients with hypertension with AF progression accompanied by various extra-cardiac comorbid pathologies.</p><p>This prospective cohort study included 167 patients with a paroxysmal and persistent form of AF and stage III hypertonic disease without coronary heart disease. The average age of the patients was 53.3 ± 7.1 years. DNA isolation from blood leucocytes was performed using phenol–chloroform extraction. The rs1378942 polymorphism of the CSK gene, the rs220073 polymorphism and the -174G/C polymorphism (rs1800795) of the IL6 gene were assessed using polymerase chain reaction-restriction fragment length polymorphism. The statistical hypotheses were considered significant at a critical level of p = 0.05, i.e.<br />the difference was considered statistically significant at p < 0.05. The lower limit of evidentiary power was equal to 80%.</p><p>This study reported associations between the rs1378942 polymorphism of the CSK gene, the rs1800795 polymorphism of the IL6 gene and the rs220073 polymorphism and the progression of AF in combination with the following associated diseases: hypertension, chronic obstructive pulmonary disease, hypothyroidism, type 2 diabetes mellitus and abdominal obesity. The relative risk of the progression of AF in carriers of the allele C was 1.94 times higher than that in carriers of the allele A [95% confidence interval (CI), 1.21–3.09]. Carriage of the AA genotype was conditionally protective against the progression of AF (relative risk, 0.41; 95% CI, 0.21–0.80; p = 0.010).</p><p>Associations of the rs1378942 and rs1800795 polymorphisms with the risk of recurrence of AF in combination with certain diseases were also found. In addition, associations were identified between rs1378942 and glomerular filtration rate, systolic and diastolic blood pressure, left atrial wall thickness and glucose, high-density lipoprotein (HDL) cholesterol, triglyceride and creatinine levels; between rs220073 and levels of triglycerides, atherogenic index, creatinine, fibrinogen and the number of months before the development of relapse and between rs1800795 and HDL cholesterol, creatinine and galectin-3 levels and diastolic blood pressure.</p><p>The secondary form of AF as a multi-factorial disease develops under the influence of many factors of both the external environment and hereditary nature. The complexity of the etio-pathogenesis of the disease makes it extremely difficult for researchers to identify the factors that play a leading role in the development of the pathological process. Currently, associative studies of AF with polymorphisms of >260 genes have been conducted, and genome-wide associative studies have been performed as well. The reproducibility of the results depends on several factors: age, sex, comorbidities, ethnicity, penetrance, expressiveness, pleiotropy, various epigenetic influences and many more.</p><p>Despite the limitations of the sample, our study adds to the data material already available that can serve in the prognostic assessment of the development and progression of AF. Further studies will allow the development of a personalised algorithm for predicting the progression of AF in hypertension combined<br />with extra-cardiac diseases. In this regard, further larger studies are necessary that involve other institutions and a larger sample of patients, which will make it possible to predict the progression of AF with the definition of additional molecular criteria for evaluating the effectiveness of pathogenetic therapy and the possibilities of targeted treatment.<br /><strong></strong></p><p><strong>Funding:</strong> The study did not have sponsorship.<br /><strong></strong></p><p><strong>Conflict of interest:</strong> Authors declare no conflict of interest.</p>
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Hidirova, L. D., D. A. Yakhontov, S. A. Zenin i V. N. Maximov. "Genetic markers of atrial fibrillation in patients with hypertension in combination with non-cardiac diseases". Patologiya krovoobrashcheniya i kardiokhirurgiya 23, nr 1 (9.07.2019): 83. http://dx.doi.org/10.21688/1681-3472-2019-1-83-85.
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<p><strong>Letter to the editor:</strong></p><p>The world medical community has categorised atrial fibrillation (AF) as one of the three cardiovascular ‘epidemics of the 21st century’, along with chronic heart failure and diabetes mellitus [1]. In recent years, the prevalence of AF has increasing steadily. However, the exact cause for the increase in the incidence of AF<br />cannot be explained only by the increase in life expectancy, prevalence of cardiac valve disease or prevalence of myocardial infarction [2].</p><p>Although AF occurs in individuals with various manifestations of coronary heart disease, it is increasingly being diagnosed in patients with arterial hypertension without coronary heart disease [3]. AF causes serious cardiovascular complications; thus, a deep understanding of its pathogenetic aspects and a comprehensive study that considers comorbid pathologies for identifying the predictors of the development and progression of AF are required [4].</p><p>Hereditary factors can play a significant role in the development of AF and hypertension; consequently, the worldwide practice of scientific research in basic medicine pays significant attention to the molecular genetics methods of analysis.</p><p>This study aimed to evaluate the genetic determinants in patients with hypertension with AF progression accompanied by various extra-cardiac comorbid pathologies.</p><p>This prospective cohort study included 167 patients with a paroxysmal and persistent form of AF and stage III hypertonic disease without coronary heart disease. The average age of the patients was 53.3 ± 7.1 years. DNA isolation from blood leucocytes was performed using phenol–chloroform extraction. The rs1378942 polymorphism of the CSK gene, the rs220073 polymorphism and the -174G/C polymorphism (rs1800795) of the IL6 gene were assessed using polymerase chain reaction-restriction fragment length polymorphism. The statistical hypotheses were considered significant at a critical level of p = 0.05, i.e.<br />the difference was considered statistically significant at p < 0.05. The lower limit of evidentiary power was equal to 80%.</p><p>This study reported associations between the rs1378942 polymorphism of the CSK gene, the rs1800795 polymorphism of the IL6 gene and the rs220073 polymorphism and the progression of AF in combination with the following associated diseases: hypertension, chronic obstructive pulmonary disease, hypothyroidism, type 2 diabetes mellitus and abdominal obesity. The relative risk of the progression of AF in carriers of the allele C was 1.94 times higher than that in carriers of the allele A [95% confidence interval (CI), 1.21–3.09]. Carriage of the AA genotype was conditionally protective against the progression of AF (relative risk, 0.41; 95% CI, 0.21–0.80; p = 0.010).</p><p>Associations of the rs1378942 and rs1800795 polymorphisms with the risk of recurrence of AF in combination with certain diseases were also found. In addition, associations were identified between rs1378942 and glomerular filtration rate, systolic and diastolic blood pressure, left atrial wall thickness and glucose, high-density lipoprotein (HDL) cholesterol, triglyceride and creatinine levels; between rs220073 and levels of triglycerides, atherogenic index, creatinine, fibrinogen and the number of months before the development of relapse and between rs1800795 and HDL cholesterol, creatinine and galectin-3 levels and diastolic blood pressure.</p><p>The secondary form of AF as a multi-factorial disease develops under the influence of many factors of both the external environment and hereditary nature. The complexity of the etio-pathogenesis of the disease makes it extremely difficult for researchers to identify the factors that play a leading role in the development of the pathological process. Currently, associative studies of AF with polymorphisms of >260 genes have been conducted, and genome-wide associative studies have been performed as well. The reproducibility of the results depends on several factors: age, sex, comorbidities, ethnicity, penetrance, expressiveness, pleiotropy, various epigenetic influences and many more.</p><p>Despite the limitations of the sample, our study adds to the data material already available that can serve in the prognostic assessment of the development and progression of AF. Further studies will allow the development of a personalised algorithm for predicting the progression of AF in hypertension combined<br />with extra-cardiac diseases. In this regard, further larger studies are necessary that involve other institutions and a larger sample of patients, which will make it possible to predict the progression of AF with the definition of additional molecular criteria for evaluating the effectiveness of pathogenetic therapy and the possibilities of targeted treatment.<br /><strong></strong></p><p><strong>Funding:</strong> The study did not have sponsorship.<br /><strong></strong></p><p><strong>Conflict of interest:</strong> Authors declare no conflict of interest.</p>
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Annas, George J., Leonard H. Glantz i Patricia A. Roche. "Drafting the Genetic Privacy Act: Science, Policy, and Practical Considerations". Journal of Law, Medicine & Ethics 23, nr 4 (1995): 360–66. http://dx.doi.org/10.1111/j.1748-720x.1995.tb01378.x.
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Only 27 percent of Americans in a 1995 Harris poll said they had read or heard “quite a lot” about genetic tests. Nonetheless, 68 percent said they would be either “very likely” or “somewhat likely” to undergo genetic testing even for diseases “for which there is presently no cure or treatment.” Perhaps most astonishing, 56 percent found it either “very” or “somewhat acceptable” to develop a government computerized DNA bank with samples taken from all newborns, and their names attached to the samples. This does not necessarily mean the public is unconcerned about genetic privacy. More likely it means that the public is still uninformed about the risks associated with genetic testing, and has not thought at all about the risks involved in storing identifiable DNA samples.A central question presented by genetic screening and testing is whether the genetic information so obtained is different in kind from other medical information (such as family history and cholesterol levels), and, if so, whether this means that it should receive special legal protection.
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Pacurar, Mariana, Bogdan Dragomir, Alina Silvana Szalontay i Cristian Romanec. "Orthodontic Aspects on the Chronological and Dental Age in Children with Down Syndrome". Revista de Chimie 69, nr 1 (15.02.2018): 208–13. http://dx.doi.org/10.37358/rc.18.1.6075.
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Genetics is a key discipline in medicine, but also a clinical discipline with medical and social implications. The interest in reducing the number of genetic disorders and recognizing the risk of them repeating when a family confronts itself with a genetic anomaly becomes more and more important in the hierarchy of prophylactic emergencies. Presenting themselves as metabolic diseases (monogenic mutations) or malformations (polygenic and multifactorial heredity) because of their frequency, these disorders position themselves on an ascendant curve. They become difficult to deal with for the society, for the family and for the interested individual and cause emotional disorders. The Down syndrome is the most frequent type of genetic disorder. It is characterized by a specific set of signs and symptoms. People with Down syndrome require special medical care that, apart from the family, must include a team of doctors of various specializations and also a dentist. They are predisposed to hearing and sight disorders and thyroid problems as well. In 50% of the cases there are also anomalies of the heart, and the risk of leukaemia is 20 times higher. Some of them even develop an Alzheimer type dementia during their life. The people with Down syndrome can have an average IQ up to a moderate form of handicap. In particular, the studies on Down syndrome in dentistry are quite frequent, but they focus more on cavities, periodontal disease and hypodontia. In spite of this, the connection of Down syndrome and dental eruption is less studied. Consequently, the present study is intended to fill this missing part from the specialized literature, focusing on the relation between the Down syndrome and the chronological and dental ages in children. The health of the oral cavity is neglected in these patients, their parents focusing more on the treatment of the other systemic disorders of their children; the lack of interest is reflected in their poor oral hygiene.The trial group included 94 children with mixt dentition, aged between 6 and 12, divided as follows: 36 children with Down syndrome enrolled at the Educational Centre for Inclusive Education no. 1 of Tg. Mures and Alpha Transilvana Foundation. The chronology and the eruption sequences are subjected to certain variations and they are influenced by the presence of cavities, the premature loss or, on the contrary, the prolonged retention of deciduous teeth as well as dental anchylosis. Dental maturation is less subjected to variations, as it is a progressive, continuous and cumulative process. The presence of Down syndrome in children generates a delay in teeth eruption by 1.27 years compared to the data identified in the specialized literature and to the information obtained on the healthy children included in the study.
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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 i in. "Aging-Induced Biological Changes and Cardiovascular Diseases". BioMed Research International 2018 (10.06.2018): 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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David, Robert, i Wolfgang-Michael Franz. "From Pluripotency to Distinct Cardiomyocyte Subtypes". Physiology 27, nr 3 (czerwiec 2012): 119–29. http://dx.doi.org/10.1152/physiol.00044.2011.
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Differentiated adult cardiomyocytes (CMs) lack significant regenerative potential, which is one reason why degenerative heart diseases are the leading cause of death in the western world. For future cardiac repair, stem cell-based therapeutic strategies may become alternatives to donor heart transplantation. The principle of reprogramming adult terminally differentiated cells (iPSC) had a major impact on stem cell biology. One can now generate autologous pluripotent cells that highly resemble embryonic stem cells (ESC) and that are ethically inoffensive as opposed to human ESC. Yet, due to genetic and epigenetic aberrations arising during the full reprogramming process, it is questionable whether iPSC will enter the clinic in the near future. Therefore, the recent achievement of directly reprogramming fibroblasts into cardiomyocytes via a milder approach, thereby avoiding an initial pluripotent state, may become of great importance. In addition, various clinical scenarios will depend on the availability of specific cardiac cellular subtypes, for which a first step was achieved via our own programming approach to achieve cardiovascular cell subtypes. In this review, we discuss recent progress in the cardiovascular stem cell field addressing the above mentioned aspects.
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Vaikhanskaya, T. G., L. N. Sivitskaya, T. V. Kurushko, T. V. Rusak, O. D. Levdansky, N. G. Danilenko i O. G. Davydenko. "A paradigm shift in the concept of arrhythmogenic cardiomyopathy: expanding the clinical and genetic spectrum, new diagnostic criteria for left ventricular phenotypes". Russian Journal of Cardiology 25, nr 10 (18.11.2020): 3863. http://dx.doi.org/10.15829/1560-4071-2020-3863.
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Recent multicenter studies using high-tech cardiac imaging and novel translational technologies have shown that cardiac fibrofatty replacement, characteristic of arrhythmogenic cardiomyopathy (ACM), is observed in both ventricles; left ventricular (LV) involvement may be minimal, on par with the right ventricle (RV), or dominant. In 2019, the Heart Rhythm Society (HRS) proposed a new approach to the assessment of arrhythmic and genetic diseases with the inclusion of new phenotypes — left-dominant ACM and biventricular ACM. In 2020, to improve the diagnosis of left ventricular phenotypes, European experts revised ACM criteria (based on the 2010 ITF criteria), which are called the Padua criteria.The presented article highlights the clinical and genetic aspects of the new concept and the difficulties in ACM diagnosis, the practical experience of using new diagnostic algorithm. To help practitioners, step-by-step differential diagnosis and risk stratification of right and left ventricular phenotypes are presented using clinical examples (leftdominant ACM with a pathogenic variant in the LMNA gene; right-dominant ACM associated with a desmoplakin gene mutation, with predominant RV and moderate LV involvement; and an isolated RV ACM associated with a mutation in the plakophilin 2 gene).
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Cavarretta, Elena, i Giacomo Frati. "MicroRNAs in Coronary Heart Disease: Ready to Enter the Clinical Arena?" BioMed Research International 2016 (2016): 1–10. http://dx.doi.org/10.1155/2016/2150763.
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Coronary artery disease (CAD) and its complication remain the leading cause of mortality in industrialized countries despite great advances in terms of diagnosis, prognosis, and treatment options. MicroRNAs (miRNAs), small noncoding RNAs, act as posttranscriptional gene expression modulators and have been implicated as key regulators in several physiological and pathological processes linked to CAD. Circulating miRNAs have been evaluated as promising novel biomarkers of CAD, acute coronary syndromes, and acute myocardial infarction, with prognostic implications. Several challenges related to technical aspects, miRNAs normalization, drugs interaction, and quality reporting of statistical multivariable analysis of the miRNAs observational studies remain unresolved. MicroRNA-based therapies in cardiovascular diseases are not ready yet for human trials but definitely appealing. Through this review we will provide clinicians with a concise overview of the pros and cons of microRNAs.
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Lykkesfeldt, Jens, i Pernille Tveden-Nyborg. "The Pharmacokinetics of Vitamin C". Nutrients 11, nr 10 (9.10.2019): 2412. http://dx.doi.org/10.3390/nu11102412.
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The pharmacokinetics of vitamin C (vitC) is indeed complex. Regulated primarily by a family of saturable sodium dependent vitC transporters (SVCTs), the absorption and elimination are highly dose-dependent. Moreover, the tissue specific expression levels and subtypes of these SVCTs result in a compartmentalized distribution pattern with a diverse range of organ concentrations of vitC at homeostasis ranging from about 0.2 mM in the muscle and heart, and up to 10 mM in the brain and adrenal gland. The homeostasis of vitC is influenced by several factors, including genetic polymorphisms and environmental and lifestyle factors such as smoking and diet, as well as diseases. Going from physiological to pharmacological doses, vitC pharmacokinetics change from zero to first order, rendering the precise calculation of dosing regimens in, for example, cancer and sepsis treatment possible. Unfortunately, the complex pharmacokinetics of vitC has often been overlooked in the design of intervention studies, giving rise to misinterpretations and erroneous conclusions. The present review outlines the diverse aspects of vitC pharmacokinetics and examines how they affect vitC homeostasis under a variety of conditions.
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McGillivray, Patrick, Declan Clarke, William Meyerson, Jing Zhang, Donghoon Lee, Mengting Gu, Sushant Kumar, Holly Zhou i Mark Gerstein. "Network Analysis as a Grand Unifier in Biomedical Data Science". Annual Review of Biomedical Data Science 1, nr 1 (20.07.2018): 153–80. http://dx.doi.org/10.1146/annurev-biodatasci-080917-013444.
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Biomedical data scientists study many types of networks, ranging from those formed by neurons to those created by molecular interactions. People often criticize these networks as uninterpretable diagrams termed hairballs; however, here we show that molecular biological networks can be interpreted in several straightforward ways. First, we can break down a network into smaller components, focusing on individual pathways and modules. Second, we can compute global statistics describing the network as a whole. Third, we can compare networks. These comparisons can be within the same context (e.g., between two gene regulatory networks) or cross-disciplinary (e.g., between regulatory networks and governmental hierarchies). The latter comparisons can transfer a formalism, such as that for Markov chains, from one context to another or relate our intuitions in a familiar setting (e.g., social networks) to the relatively unfamiliar molecular context. Finally, key aspects of molecular networks are dynamics and evolution, i.e., how they evolve over time and how genetic variants affect them. By studying the relationships between variants in networks, we can begin to interpret many common diseases, such as cancer and heart disease.
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Marín de Evsikova, Caralina, Isaac D. Raplee, John Lockhart, Gilberto Jaimes i Alexei V. Evsikov. "The Transcriptomic Toolbox: Resources for Interpreting Large Gene Expression Data within a Precision Medicine Context for Metabolic Disease Atherosclerosis". Journal of Personalized Medicine 9, nr 2 (29.04.2019): 21. http://dx.doi.org/10.3390/jpm9020021.
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As one of the most widespread metabolic diseases, atherosclerosis affects nearly everyone as they age; arteries gradually narrow from plaque accumulation over time reducing oxygenated blood flow to central and periphery causing heart disease, stroke, kidney problems, and even pulmonary disease. Personalized medicine promises to bring treatments based on individual genome sequencing that precisely target the molecular pathways underlying atherosclerosis and its symptoms, but to date only a few genotypes have been identified. A promising alternative to this genetic approach is the identification of pathways altered in atherosclerosis by transcriptome analysis of atherosclerotic tissues to target specific aspects of disease. Transcriptomics is a potentially useful tool for both diagnostics and discovery science, exposing novel cellular and molecular mechanisms in clinical and translational models, and depending on experimental design to identify and test novel therapeutics. The cost and time required for transcriptome analysis has been greatly reduced by the development of next generation sequencing. The goal of this resource article is to provide background and a guide to appropriate technologies and downstream analyses in transcriptomics experiments generating ever-increasing amounts of gene expression data.
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Seguret, Magali, Eva Vermersch, Charlène Jouve i Jean-Sébastien Hulot. "Cardiac Organoids to Model and Heal Heart Failure and Cardiomyopathies". Biomedicines 9, nr 5 (18.05.2021): 563. http://dx.doi.org/10.3390/biomedicines9050563.
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Cardiac tissue engineering aims at creating contractile structures that can optimally reproduce the features of human cardiac tissue. These constructs are becoming valuable tools to model some of the cardiac functions, to set preclinical platforms for drug testing, or to alternatively be used as therapies for cardiac repair approaches. Most of the recent developments in cardiac tissue engineering have been made possible by important advances regarding the efficient generation of cardiac cells from pluripotent stem cells and the use of novel biomaterials and microfabrication methods. Different combinations of cells, biomaterials, scaffolds, and geometries are however possible, which results in different types of structures with gradual complexities and abilities to mimic the native cardiac tissue. Here, we intend to cover key aspects of tissue engineering applied to cardiology and the consequent development of cardiac organoids. This review presents various facets of the construction of human cardiac 3D constructs, from the choice of the components to their patterning, the final geometry of generated tissues, and the subsequent readouts and applications to model and treat cardiac diseases.
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Ramos, Fabiana, Sofia Maia, Miguel Branco, Joana Raposo, Joaquim Sá, Sérgio Sousa, Margarida Venâncio i in. "Accuracy of Prenatal Diagnosis in Elective Termination of Pregnancy: 385 Cases from 2000 to 2007". ISRN Obstetrics and Gynecology 2011 (8.11.2011): 1–5. http://dx.doi.org/10.5402/2011/458120.
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Objective. To evaluate the quality of prenatal results in all cases of termination of pregnancy (TOP) due to fetal abnormalities in a tertiary prenatal diagnosis center. Material and Methods. Retrospective analysis of the 385 TOP performed on our department due to fetal abnormalities between January 1, 2000, and December 31, 2007. We compared all data for agreement between the ultrasound, genetic, and postmortem findings, regarding the abnormalities identified in the etiological diagnosis and its prognosis. Results. Chromosome abnormalities were the most common indication for TOP (39%), followed by abnormalities of CNS (20%), monogenic disorders (11%), sequences (9.6%), polimalformative syndromes (5.2%), and isolated congenital heart diseases (4%). Total agreement was 21%. Further abnormalities were identified in 79%. The data collected after TOP changed the etiologic diagnosis in 21% but the prognosis was changed in only one fetus. Discussion. This study corroborates the necessity of a multidisciplinary team in prenatal diagnosis centers. Their work remarkably improves the genetic counseling and represents an important aspect in quality control of the information given to a couple previously to a TOP.
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Wang, Xiu, Shi Jin i Weina Hu. "A Role of Glucose Overload in Diabetic Cardiomyopathy in Nonhuman Primates". Journal of Diabetes Research 2021 (30.03.2021): 1–9. http://dx.doi.org/10.1155/2021/9676754.
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Type 2 diabetes (T2D) plays a major role in the development of heart failure. Patients with T2D have an increased risk to develop HF than healthy subjects, and they always have very poor outcomes and survival rates. However, the underlying mechanisms for this are still unclear. To help develop new therapeutic interventions, well-characterized animal models for preclinical and translational investigations in T2D and HF are urgently needed. Although studies in rodents are more often used, the research findings in rodents have often failed to be translated into humans due to the significant metabolic differences between rodents and humans. Nonhuman primates (NHPs) serve as valuable translational models between basic studies in rodent models and clinical studies in humans. NHPs can recapitulate the natural progress of these diseases in humans and study the underlying mechanism due to their genetic similarity and comparable spontaneous T2D rates to humans. In this review, we discuss the importance of using NHPs models in understanding diabetic cardiomyopathy (DCM) in humans with aspects of correlations between hyperglycemia and cardiac dysfunction progression, glucose overload, and altered glucose metabolism promoting cardiac oxidative stress and mitochondria dysfunction, glucose, and its effect on cardiac resynchronization therapy with defibrillator (CRT-d), the currently available diabetic NHPs models and the limitations involved in the use of NHP models.
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Kochanek, Stefan. "Development of High-Capacity Adenoviral Vectors for Gene Therapy". Thrombosis and Haemostasis 82, nr 08 (1999): 547–51. http://dx.doi.org/10.1055/s-0037-1615878.
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IntroductionArticles about mutations that cause genetic disorders frequently include a suggestion that gene therapy will likely provide a cure for the disease in the future. In fact, ongoing efforts to sequence the human genome, to understand the roles of genes during development, and to determine the molecular pathogenesis of disease will almost “naturally” lead to the use of nucleic acids for the treatment of diseases in the future.Somatic gene therapy can be defined as the treatment of inherited or acquired diseases by the introduction and expression of genetic information in somatic cells. Genetic disorders that are caused by loss-of-function mutations might be treated by introducing a functional copy of the mutated gene into the appropriate tissue. Good candidate disorders for somatic gene therapy include the many inborn errors of metabolism, such as hemophilia A or B, which are caused by either a low amount or the complete absence of a single functional gene product. These disorders have been characterized at the DNA level, and the disease-causing mutations can be relatively easily identified in individual patients.Many acquired diseases, such as different types of cancer, are less well-defined at the molecular level. However, because of their frequency and their impact on public health, interest in the development of gene therapy for these disorders is particularly high. In fact, most of the clinical gene therapy trials that have been conducted so far relate to the treatment of malignant tumors. Despite the many ongoing clinical trials, as yet, there have been no clear examples of the successful treatment of any human disease by gene transfer.Possibly the single most important reason preventing a broad application of gene transfer in the treatment of diseases, whether inherited or acquired, is the lack of both safe and effective gene transfer technologies. What are the requirements for the use of a vector as a vehicle for gene transfer in patients with inborn errors of metabolism? The vector should efficiently transport and deliver foreign genes to different cell types, both in vitro and in vivo. Following gene transfer, these genes should be permanently expressed at physiological levels. In many cases, expression will need to be tissue-specific and regulated. The vector should be safe, stable, and easily manufactured to high yields.While several nonviral and viral gene transfer vectors have been tested in different systems, currently, there is no vector system available that meets all of these requirements. With the realization that efficient delivery of genes into tissues is at the heart of successful somatic gene therapy, many research groups are concentrating their efforts on refining the different aspects of the multi-step process of gene transfer.
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Severino, Paolo, Andrea D’Amato, Silvia Prosperi, Francesca Fanisio, Lucia Ilaria Birtolo, Bettina Costi, Lucrezia Netti i in. "Myocardial Tissue Characterization in Heart Failure with Preserved Ejection Fraction: From Histopathology and Cardiac Magnetic Resonance Findings to Therapeutic Targets". International Journal of Molecular Sciences 22, nr 14 (17.07.2021): 7650. http://dx.doi.org/10.3390/ijms22147650.
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Heart failure with preserved ejection fraction (HFpEF) is a complex clinical syndrome responsible for high mortality and morbidity rates. It has an ever growing social and economic impact and a deeper knowledge of molecular and pathophysiological basis is essential for the ideal management of HFpEF patients. The association between HFpEF and traditional cardiovascular risk factors is known. However, myocardial alterations, as well as pathophysiological mechanisms involved are not completely defined. Under the definition of HFpEF there is a wide spectrum of different myocardial structural alterations. Myocardial hypertrophy and fibrosis, coronary microvascular dysfunction, oxidative stress and inflammation are only some of the main pathological detectable processes. Furthermore, there is a lack of effective pharmacological targets to improve HFpEF patients’ outcomes and risk factors control is the primary and unique approach to treat those patients. Myocardial tissue characterization, through invasive and non-invasive techniques, such as endomyocardial biopsy and cardiac magnetic resonance respectively, may represent the starting point to understand the genetic, molecular and pathophysiological mechanisms underlying this complex syndrome. The correlation between histopathological findings and imaging aspects may be the future challenge for the earlier and large-scale HFpEF diagnosis, in order to plan a specific and effective treatment able to modify the disease’s natural course.
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Seguin, Maureen, Gideon Lasco, Khairuddin Bin Idris, Jhaki Mendoza, N. H. Hanani Mohd Kadri, Steven Krauss, Jeffrey D'Silva i in. "Patient pathways for cardiovascular diseases in Malaysia and the Philippines: a systematic review". Wellcome Open Research 6 (26.02.2021): 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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Mazumder, A., M. J. Hoque, A. K. Kundu i S. Afrin. "Farmer’s challenges in adopting artificial insemination of cattle in Bangladesh". Journal of Fisheries, Livestock and Veterinary Science 01, nr 01 (16.08.2020): 10–17. http://dx.doi.org/10.18801/jflvs.010120.02.
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Cattle are one of the indices of civilization, sources of wealth, health and prosperity for the nation. Cattle provide us food, cash as well as mechanical power. The production of cattle is low due to their poor genetic makeup, indigenous and large incidence of diseases. Artificial Insemination (AI) is the first generation reproductive biotechnology that has made a profound contribution to the genetic improvement as well as recognized breeding tool of the cattle. But the farmers in Bangladesh are yet to adopt it perfectly. For these, the principle objective of the study was to determine the extent of problems faced by the farmers in adopting AI of cattle. Problem confrontation was measured based on 18 different aspects of AI using four point scale where 3 indicates high problem, 2 medium, 1 low and 0 no problem at all. The study was conducted in Kishoreganj Sadar Upazila under Kishoreganj district. Data were collected from randomly selected 100 farmers out of 340 farmers using an interview schedule. The majority of the farmers (58%) had medium problems while 39% had high and only 3% had low problems in adopting artificial insemination. Among the problems, inseminator problem and heat stage were considered the most critical problems in the survey area.
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Barton, Matthias, i Masashi Yanagisawa. "Endothelin: 30 Years From Discovery to Therapy". Hypertension 74, nr 6 (grudzień 2019): 1232–65. http://dx.doi.org/10.1161/hypertensionaha.119.12105.
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Discovered in 1987 as a potent endothelial cell–derived vasoconstrictor peptide, endothelin-1 (ET-1), the predominant member of the endothelin peptide family, is now recognized as a multifunctional peptide with cytokine-like activity contributing to almost all aspects of physiology and cell function. More than 30 000 scientific articles on endothelin were published over the past 3 decades, leading to the development and subsequent regulatory approval of a new class of therapeutics—the endothelin receptor antagonists (ERAs). This article reviews the history of the discovery of endothelin and its role in genetics, physiology, and disease. Here, we summarize the main clinical trials using ERAs and discuss the role of endothelin in cardiovascular diseases such as arterial hypertension, preecclampsia, coronary atherosclerosis, myocardial infarction in the absence of obstructive coronary artery disease (MINOCA) caused by spontaneous coronary artery dissection (SCAD), Takotsubo syndrome, and heart failure. We also discuss how endothelins contributes to diabetic kidney disease and focal segmental glomerulosclerosis, pulmonary arterial hypertension, as well as cancer, immune disorders, and allograft rejection (which all involve ET A autoantibodies), and neurological diseases. The application of ERAs, dual endothelin receptor/angiotensin receptor antagonists (DARAs), selective ET B agonists, novel biologics such as receptor-targeting antibodies, or immunization against ET A receptors holds the potential to slow the progression or even reverse chronic noncommunicable diseases. Future clinical studies will show whether targeting endothelin receptors can prevent or reduce disability from disease and improve clinical outcome, quality of life, and survival in patients.
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Biale, Haim, Christopher J. Geden i Elad Chiel. "Heat Adaptation of the House Fly (Diptera: Muscidae) and Its Associated Parasitoids in Israel". Journal of Medical Entomology 57, nr 1 (2.10.2019): 113–21. http://dx.doi.org/10.1093/jme/tjz152.
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Abstract Insects are ectothermic organisms; hence, all aspects of their biology are strongly influenced by ambient temperatures. Different insect species respond differently with phenotypic plasticity and/or genetic adaptation to changing temperatures. Here, we tested the thermal adaptation of the house fly and three of its parasitoids species by comparing life-history parameters in populations from a hot climate region (Jordan Valley) and from a moderate-climate region (Galilee). No significant differences were found between the two house fly populations, both under hot and moderate experimental conditions. Life-history parameters of the parasitoids (Muscidifurax raptor Girault & Sanders, Spalangia endius Walker, and Spalangia cameroni Perkins [Hymenoptera: Pteromalidae]) varied markedly between origins, species, sexes, and experimental conditions. Of the three species tested, only M. raptor collected in the Jordan Valley proved better adapted to experimental heat conditions, compared to its counterpart population that was collected in the Galilee. Additionally, we tested the effect of elevating temperatures on a house fly lab population for 17 consecutive generations and found no evidence for heat adaptation. We discuss our results in the context of house fly control and global warming.
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Kindo, Bikrant, Rana Himanshu, K. Parmar, S. Dube i J. Ramesh. "Socioeconomic and demographic trends in the prevalence of type 2 diabetes in India". Journal of Social Health and Diabetes 04, nr 02 (grudzień 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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Kuzmina, Lyudmila P., Maria M. Kolyaskina, Lyudmila M. Bezrukavnikova, Nana A. Anvarul i 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, nr 4 (25.05.2021): 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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Komajda, Michel, Philippe Charron i Frédérique Tesson. "Genetic aspects of heart failure". European Journal of Heart Failure 1, nr 2 (czerwiec 1999): 121–26. http://dx.doi.org/10.1016/s1388-9842(99)00026-4.
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Simard, Mathieu, Catherine Laprise i Simon L. Girard. "Impact of Paternal Age at Conception on Human Health". Clinical Chemistry 65, nr 1 (1.01.2019): 146–52. http://dx.doi.org/10.1373/clinchem.2018.294421.
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Abstract BACKGROUND The effect of maternal age at conception on various aspects of offspring health is well documented and often discussed. We seldom hear about the paternal age effect on offspring health, although the link is now almost as solid as with maternal age. The causes behind this, however, are drastically different between males and females. CONTENT In this review article, we will first examine documented physiological changes linked to paternal age effect. We will start with all morphological aspects of the testis that have been shown to be altered with aging. We will then move on to all the parameters of spermatogenesis that are linked with paternal age at conception. The biggest part of this review will focus on genetic changes associated with paternal age effects. Several studies that have established a strong link between paternal age at conception and the rate of de novo mutations will be reviewed. We will next discuss paternal age effects associated with telomere length and try to better understand the seemingly contradictory results. Finally, severe diseases that affect brain functions and normal development have been associated with older paternal age at conception. In this context, we will discuss the cases of autism spectrum disorder and schizophrenia, as well as several childhood cancers. SUMMARY In many Western civilizations, the age at which parents have their first child has increased substantially in recent decades. It is important to summarize major health issues associated with an increased paternal age at conception to better model public health systems.
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Ali, Shahid, i Abdul Majeed Baloch. "Overview of Sustainable Plant Growth and Differentiation and the Role of Hormones in Controlling Growth and Development of Plants Under Various Stresses". Recent Patents on Food, Nutrition & Agriculture 11, nr 2 (18.09.2020): 105–14. http://dx.doi.org/10.2174/2212798410666190619104712.
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Plant development is different from animals by many fundamental aspects; as they have immobilized cells, a rigid cell wall, and the large central vacuole. Plant growth and cell division are restricted to the specific area of the shoot and root called meristems. Plants have the ability to carry out differentiation, dedifferentiation and redifferentiation. In plants, the growth and differentiation processes are controlled by hormonal and genetic factors. Phytohormones can exert independent/ dependent actions on plant growth and development. A pool of stem cells is placed at the niche of the apex meristem, which is the source of self-renewal of the cell system and its maintenance to provide cells to differentiated tissues. A complex interaction network between hormones and other factors maintains a balance between cell division and differentiation. Auxins promote the growth, gibberellins’ function in seed germination, cytokinin’s influence on cell division and delay leaf senescence; abscisic acid promotes the stomatal closure and bud dormancy, while salicylic acid promotes resistance against different diseases. Plants are often exposed to different abiotic and biotic stresses, for example, heat, cold, drought, salinity etc., whereas biotic stress arises mainly from fungi, bacteria, insect, etc. Phytohormones play a critical role in well-developed mechanisms that help to perceive the stress signal and enable the plant’s optimal growth response. In this review, we studied both the intrinsic and extrinsic factors which govern growth and differentiation of plants under normal and stress condition. This review also deals with genetic modifications occurring in the cell and cell signaling during growth and differentiation.
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Falcón de Vargas, Aı́da. "Genetic aspects of cardiovascular diseases". International Congress Series 1237 (lipiec 2002): 145–60. http://dx.doi.org/10.1016/s0531-5131(01)00582-9.
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Steinsson, K., i M. E. Alarcón‐Riquelme. "Genetic aspects of rheumatic diseases". Scandinavian Journal of Rheumatology 34, nr 3 (czerwiec 2005): 167–77. http://dx.doi.org/10.1080/03009740510026779.
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Shi, Aimin, Ziqi Tao, Peng Wei i Jing Zhao. "Epidemiological aspects of heart diseases". Experimental and Therapeutic Medicine 12, nr 3 (26.07.2016): 1645–50. http://dx.doi.org/10.3892/etm.2016.3541.
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Pakhomia, N. S., O. M. Uryasev i Y. A. Panfilov. "Genetic aspects of ischemic heart disease". I.P.Pavlov Russian Medical Biological Herald 23, nr 4 (15.12.2015): 126. http://dx.doi.org/10.17816/pavlovj20154126-132.
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Kawa, J., C. Armstrong, D. DeSilva, J. Ingles, K. Ogden, C. Semsarian i D. McTaggart. "Genetic Heart Diseases in Tasmania". Heart, Lung and Circulation 20 (styczeń 2011): S220. http://dx.doi.org/10.1016/j.hlc.2011.05.540.
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Karlsson, L. J. E., i J. C. Greeff. "Genetic aspects of sheep parasitic diseases". Veterinary Parasitology 189, nr 1 (wrzesień 2012): 104–12. http://dx.doi.org/10.1016/j.vetpar.2012.03.039.
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