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Hypertension and nephrology

NOVEMBER 04, 2020

[The role of stress management in the care of hypertension and the treatment of cardiovascular disease]

SOMOGYI Éva, KISS Zoltán, STAUDER Adrienne

[The aim of this paper is to give an overview of the relationship between stress and hypertension and cardiovascular diseases, furthermore to introduce an evidence based stress management intervention available in Hungary. The correlation between cardiovascular disease and psychosocial factors (including concomitant mental disorders as well as personality traits or the effect of social environment) has been established in numerous studies aimed at investigating pathogenesis or various clinical endpoints. The 2016 Guidelines of the European Society of Cardiology include the assessment and the management of psychosocial problems with behavioral medicine interventions as a I.A level recommendation. The implementation of these guidelines in everyday clinical practice is crucial to decrease cardiovascular risk. This involves the training of health care professionals, the facilitation of multidisciplinary collaboration and the integration of behavioral intervention into everyday care. The Williams Life Skills (WLS) program is an evidence based behavioral medicine intervention aiming to improve stress management and communication skills which implemented internationally and also available all over Hungary. It involves the learning of simple coping strategies that facilitate the successful management of every day psychosocial stress situations and the self-conscious reduction of bodily and psychological tensions. In cardiovascular disease, this improves quality of life and survival. The WLS program is especially recommended for healthcare workers to decrease the negative health consequences of their high stress load and to prevent burnout. Stress may affect both doctors and patients during their interactions. Bálint groups have a positive impact on the physician-patient collaboration and help to reduce burnout by improving the understanding of the diseases from a more complex approach.]

Clinical Neuroscience

SEPTEMBER 30, 2019

[The role of epigenetic regulations in early childhood diseases]

TORY Vera

[With the acceptance of “The developmental origins of health and disease” concept in the 1990s, it became clear that epigenetic inheritance, which do not involve changes in the DNA sequence has important role in the pathogenesis of diseases. Epigenetic regulation serves the adaptation to the changing environment and maintains the reproductive fitness even on the drawback of increased risk of diseases in later life. The role of epigenetic mechanisms in chronic non-communicable diseases has been well established. Recent studies have revealed that epigenetic changes have also causal role in certain pediatric diseases. The review evaluates the recent epigenetic findings in the pathomechanism of common pediatric diseases. The wide range and long-lasting duration of epigenetic regulations give importance to the subject. Methods are already available to evaluate a part of the epigenetic changes in the clinical practice, presently aiming primarily the estimation of the disease risk or definition of diagnosis. Furthermore, there are already available limited means to influence the epigenetic regulation. ]

Clinical Oncology

FEBRUARY 15, 2016

[Follicular lymphoma - a way to personalized and targeted therapy ]

BÖDÖR Csaba, SCHNEIDER Tamás

[Although follicular lymphoma is the most frequent non-Hodgkin’s lymphoma with an indolent clinical course, it is a rare disease. Patients with FL are characterized with a long survival with a relatively good quality of life, however using the current standard chemo-immunotherapy, the disease is considered incurable. The increasing knowledge of the molecular genetic background of the disease and the role of the reactive microenvironment lead to a better understanding of the pathogenesis of follicular lymphoma. Furthermore, the detailed functional characterization of the various cell surface antigens and deciphering the complex network of signaling pathways catalyzed the development of a number of novel targeted therapies (monoclonal antibodies, kinase- and NFκB-inhibitors), while understanding the effects of the cell surface receptors of cytotoxic T-cells initiated development of the monoclonal checkpoint inhibitors. The epigenetic therapies represent a novel therapeutic area with methyltransferase inhibitors demonstrating the most favorable results. Among the novel therapies, the immunomodulatory lenalidomide appears as the most promising and most effective drug, which acts via regulating the microenvironment, and in combination with rituximab in fi rst line setting it demonstrated similar effi cacy to the current standard protocols. Indeed, the rational use of the novel data and drugs paves the way towards personalized and targeted therapies for FL, resulting in more effective treatment and further improvement in patients’ survival, with a very long disease-free survival representing cure.]

Clinical Oncology

FEBRUARY 15, 2016

[Epigenetics and cancer]

KOPPER László

[Epigenetics is concerned with the modulation of the genom without structural changes in the nucleotide-sequence. The main target in the regulation of epigenetical activity is gene expression. The main mechanisms in epigenetics the reversible chemical modulation of the DNA and the histones which are regulated by enzyme-complexes, acting directly with the metabolism and the signaling pathways, as well as with the sensors of macro- and microenvironment. New members of the epigenetical family are the non-coding RNAs (e.g. microRNA). The misregulation of these components can infl uence the tumors at different stages of growth and progression. Several inhibitory anticancer drugs (e.g. azacytidine, decitabin, vorinostat, romidepsin, belinostat) are used in the clinical targeted therapy.]

Lege Artis Medicinae

AUGUST 20, 2016

[Cardiovascular aging]

VÁLYI Péter

[The world population in both industrialized and developing countries is aging. The clinical and economic implications of this demographic shift are staggering because age is the most powerful risk factor for cardiovascular diseases. The incidence and prevalence of hypertension, coronary artery disease, congestive heart failure, and stroke increase steeply with advancing age. Although epidemiologic studies have discovered that some aspects of lifestyle and genetics are risk factors for these diseases, age, per se, confers the major risk. There is a continuum of age-related alterations of cardiovascular structure and function in healthy humans, however these alterations are not synonymous with diseases processes. Old age is not a disease. Although cardiovascular aging changes are considered “normative”, they lower the threshold for development of cardiovascular disease, and appear to influence the steep increases in hypertension, atherosclerosis, stroke, left ventricular hypertrophy, chronic heart failure, and atrial fibrillation with increasing age. Specific pathophysiologic mechanisms that underlie these diseases become superimposed on cardiac and vascular substrates that have been modified by an “aging process”, and the latter modulates disease occurrence and severity. Age-associated changes in cardiovascular structure and function become “partners” with pathophysiologic disease mechanisms, lifestyle, genetics, and other presently unknown factors in determining the threshold, severity, prognosis, and therapeutic response of cardiovascular disease in older persons. However, the role of specific age-associated changes in cardiovascular structure and function in such age-disease interactions has not been considered in most epidemiologic and clinical studies of cardiovascular disease. Quantitative information on age-associated alterations in cardiovascular structure and function in health is essential to unravel age-disease interactions and to target the specific characteristics of cardiovascular aging that render it such a major risk factor for cardiovascular diseases. Such information is also of practical value to differentiate between the limitations of an older person that relate to disease and those that might be expected, within limits, to accompany advancing age or a sedentary lifestyle.]

Clinical Neuroscience

MAY 30, 2016

[Genetically determined diseases associated with pathological brain iron accumulation and neurodegeneration]

ÁCS Péter, MOLNÁR Mária Judit, KLIVÉNYI Péter, KÁLMÁN Bernadette

[The rare, genetically determined group of diseases characterized by pathological accumulation of iron in the central nervous system and progressive, typically movement disorder’s symptoms are called NBIA (neurodegeneration with brain iron accumulation). By the rapid development of molecular genetics, it has become apparent that different mutations in numerous genes can lead to pathological cerebral iron accumulation. Simultaneously, it has also been recognized that the age of onset, the symptoms and the prognosis of NBIA disorders are much more diverse than it was previously perceived. To our knowledge, a review article on the most recent clinical data of NBIA has not been published in Hungarian. In the first part of this publication, we survey the general clinical characteristics and the diagnostic algorithm of NBIA diseases and address some considerations for differential diagnostics. In the second part of this review, the particular NBIA disorders are presented in details. The purpose of this article is to provide a clinical overview that may be useful for neurologists, pediatricians and any other medical practitioners interested in this field.]

Clinical Neuroscience

SEPTEMBER 30, 2015

[Molecular pathology of meningiomas]

MURNYÁK Balázs, CSONKA Tamás, HORTOBÁGYI Tibor

[Meningiomas represent nearly one-third of all adult primary brain tumours. According to their clinical and histologic appearance, they can be divided into WHO grades I-III. Almost 90% of meningiomas are benign, showing favourable response to conventional therapies, however, patients diagnosed with grade 2 and 3 tumours may have a poor prognosis. In addition, high frequency of tumour recurrence renders treatments more challenging even in benign meningiomas. Molecular-pathological profiling of meningiomas could lead to development of more effective therapies. Although the cytogenetic background of these tumours are already wellcharacterised, the majority of related genes and mutations is still unknown. Recently, high-throughput techniques enabled better characterisation of mechanisms involved in meningioma development, progression and recurrence. Furthermore, epigenetic dysregulation could offer new opportunities for both diagnosis and treatment of meningiomas. We provide a comprehensive overview of cytogenetic and molecular genetic defects as well as epigenetic alterations in meningiomas. Many of these may serve as biomarker or therapeutic target in the near future.]

Clinical Neuroscience

SEPTEMBER 30, 2014

[Complex approaches to study complex trait genetics in multiple sclerosis]

BERNADETTE Kalman

[Multiple sclerosis (MS) is a complex trait disorder defined by several genes and their interactions with environmental factors. A comprehensive exploration of the susceptibility variants had not been feasible until recently when new developments in biotechnology and bioinformatics made possible sequencing of the whole human genome, cataloguing of nucleotide variants and alignments of these variants in haplotypes. Earlier observations from epidemiological, candidate gene and linkage studies provided ample evidence to support a complex genetic determination of MS. New biotechnology and bioinformatics resources have been recently applied to further successful explorations of the disease. These efforts were paralleled by more careful and reliable ascertainments of disease phenotypes, collaborations among specialized centers to generate sufficient sample size and involvement of clinician-scientists capable of working both on the clinical and scientific study sides. Data obtained from the whole genome association studies (GWAS) elevated our understanding of MS genetics to a new level by identifying an extensive list of genetic determinants. Pathway analyses of MS-associated variants provided evidence to support the immune etiology of the disease. Future research will likely explore how environmental factors interact with the genome, and contribute to the abnormal immune activation and inflammation. This review summarizes the outcomes of MS genetic explorations including those of recent GWAS, and highlights practical consequences of genetic and genomic studies by pointing out as to how the derived data facilitate further elucidation of MS pathogenesis. A better understanding of disease processes is necessary for future advancements in therapeutics and the development of disease prevention strategies.]

LAM KID

SEPTEMBER 20, 2012

[Why twins are different? - About twin research]

ERDŐS Edina, BÁLINT Bálint László

[Twin studies had an important role in the development of medicine. In this review, we present the available data of Hungarian twin studies and the number of twins in Hungary on the basis of statistical data. Comparing these data with international ones and taking into account probable prevalences, we aim to provide an estimation of the number of twins in Hungary who have cancerous diseases. Our estimation suggests that creation of a national database for such twins is feasible and could provide a great help for a better understanding of the causes and mechanisms of cancerous diseases.]