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Molecular cardiology

Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, Maria Cristina Digilio, Anwar Baban, Sonia B Albanese, Paolo Versacci, Enrica De Luca, Giovanni B Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P Kaski, Giulia Tuo, Maria Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino
A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed...
February 2018: Data in Brief
Sophie Van Linthout, Carsten Tschöpe
PURPOSE OF REVIEW: Myocarditis is an inflammatory disease of the cardiac muscle mainly caused by viral infection. Due to the diverse clinical presentation of myocarditis, accurate diagnosis demands simultaneous histologic, immunohistochemical and molecular biological workup of endomyocardial biopsies (EMBs) as defined by the position statement of the Working Group on Myocardial and Pericardial Diseases of the European Society of Cardiology on myocarditis. RECENT FINDINGS: Endomyocardial biopsy-based analysis of viral transcriptional activity, mRNA expression, epigenetics and region-specific protein expression analysis via imaging mass spectrometry have led to the identification of novel potential diagnostic criteria, markers with prognostic value and therapeutic targets for the treatment of viral myocarditis, opening new avenues for novel therapies, including cell therapies, as well as the use of established treatment options, be it from other indications...
March 9, 2018: Current Opinion in Cardiology
Erman Öztürk, Ferit Onur Mutluer
In cardiology practice, anticoagulation and antiplatelet therapies are essential for most patients. As of yet, there is no high quality evidence regarding these treatments in thrombocytopenic patients, which continues to be an issue. Thrombocytopenia is defined as a platelet count of <150x109/L and is classified as severe when the platelet count is <50x109/L. Pseudothrombocytopenia, drug-induced thrombocytopenia, immune thrombocytopenia, heparin-induced thrombocytopenia, and thrombotic thrombocytopenic purpura are some of the main causes of thrombocytopenia...
March 2018: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Andrzej Grzybowski, Waldemar Elikowski, Magdalena Gaca-Wysocka
RATIONALE: To analyze cardiovascular risk factors and comorbidity of acute unilateral visual loss due to combined central retinal vein occlusion (CRVO) and cilioretinal artery occlusion (CLRAO). PATIENT CONCERNS: Among patients with retinal vein or artery occlusion hospitalized at the Department of Ophthalmology between January 2011 and August 2017, subjects with combined CRVO/CLRAO were selected. All of them underwent ophthalmologic and cardiologic examination, including fluorescein angiography, optical coherence tomography, 12-lead electrocardiogram, transthoracic and transesophageal echocardiography, carotid Doppler sonography, cerebral magnetic resonance imaging, and a panel of laboratory tests...
January 2018: Medicine (Baltimore)
Alessandro Ianni, Xuejun Yuan, Eva Bober, Thomas Braun
Cardiovascular diseases represent a major cause of death and morbidity. Cardiac and vascular pathologies develop predominantly in the aged population in part due to lifelong exposure to numerous risk factors but are also found in children and during adolescence. In comparison to adults, much has to be learned about the molecular pathways driving cardiovascular diseases in the pediatric population. Sirtuins are highly conserved enzymes that play pivotal roles in ensuring cardiac homeostasis under physiological and stress conditions...
March 2, 2018: Pediatric Cardiology
N M Vorobyeva
The article contains an outline of the 2017 ACC Expert Consensus Decision Pathway for Periprocedural Management of Anticoagulation in Patients With Nonvalvular Atrial Fibrillation. This document considers in detail problems of necessity and safety of temporary interrupting of anticoagulation for the period of procedure, main principles of interruption and restarting anticoagulant therapy after procedure, indications to the transitional (bridging) therapy in the periprocedural period, as well as possible strategies of periprocedural management of patients in dependence of risk of bleeding and thromboembolic complications...
February 2018: Kardiologiia
Shunyang Fan, Kefang Li, Deyin Zhang, Fuyun Liu
Congenital heart disease (CHD) is a problem in the structure of the heart that is present at birth. Due to advances in interventional cardiology, CHD may currently be without surgery. The present study aimed to explore the molecular mechanism underlying CHD. A total of 200 cases of CHD treated by transcatheter closure as well as 200 controls were retrospectively assessed. Serum cytokines prior to and after treatment were assessed by reverse-transcription quantitative polymerase chain reaction analysis. Furthermore, the levels of proteins associated with c-Jun N-terminal kinase (JNK) and nuclear factor (NF)-κB were assessed by western blot analysis and immunohistochemistry...
February 2018: Experimental and Therapeutic Medicine
Joyce Man, Phil Barnett, Vincent M Christoffels
Atrial natriuretic factor and brain natriuretic peptide are two important biomarkers in clinical cardiology. These two natriuretic peptide hormones are encoded by the paralogous genes Nppa and Nppb, which are evolutionary conserved. Both genes are predominantly expressed by the heart muscle during the embryonic and fetal stages, and in particular Nppa expression is strongly reduced in the ventricles after birth. Upon cardiac stress, Nppa and Nppb are strongly upregulated in the ventricular myocardium. Much is known about the molecular and physiological ques inducing Nppa and Nppb expression; however, the transcriptional regulatory mechanisms of the Nppa-Nppb cluster in vivo has proven to be quite complex and is not well understood...
January 4, 2018: Cellular and Molecular Life Sciences: CMLS
Richard Naspro, Lori B Lerner, Roberta Rossini, Michele Manica, Henry H Woo, Ross J Calopedos, Cecilia M Cracco, Cesare M Scoffone, Thomas R Herrmann, Jean J de la Rosette, Jean-Nicolas Cornu, Luigi F DA Pozzo
INTRODUCTION: The number of patients on chronic anticoagulant or antiplatelet therapy requiring endoscopic urological surgery is increasing worldwide. Therefore, there is a strong demand to standardize the peri-operative treatment of this cohort of patients, both from a surgical and cardiological point of view, balancing the risks of bleeding versus thrombosis, and the important possible clinical and medical legal repercussions therein. EVIDENCE ACQUISITION: Although literature is scarce and the quality of evidence quite low, in line with other surgical specialties, guidelines and recommendations for the management of urological patients have begun to emerge...
December 14, 2017: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
Sebastian Schee Genannt Halfmann, Laura Mählmann, Lada Leyens, Matthias Reumann, Angela Brand
Personalised Medicine has become a reality over the last years. The emergence of 'omics' and big data has started revolutionizing healthcare. New 'omics' technologies lead to a better molecular characterization of diseases and a new understanding of the complexity of diseases. The approach of PM is already successfully applied in different healthcare areas such as oncology, cardiology, nutrition and for rare diseases. However, health systems across the EU are often still promoting the 'one-size fits all' approach, even if it is known that patients do greatly vary in their molecular characteristics and response to drugs and other interventions...
2017: Advances in Experimental Medicine and Biology
Wael A AlJaroudi, Fadi G Hage
Several original articles and editorials have been published in the Journal of Nuclear Cardiology in 2017. It has become a tradition at the beginning of each year to summarize some of these key articles in 2 sister reviews. In this first part one, we will discuss some of the progress made in the field of heart failure (cardio-oncology, myocardial blood flow, viability, dyssynchrony, and risk stratification), inflammation, molecular and hybrid imaging using advancement in positron emission tomography, computed tomography, and magnetic resonance imaging...
November 8, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
V A Maksimenko
Clinical-biochemical research of vascular wall hydrated state, water-electrolyte balance has broadened substantially our notions concerning initiation mechanism of vessel damages, methods of their prevention and treatment. Consecutive study of endothelial glycocalyx functioning, computational research of its interaction with oxidative stress, regulation of its state has been aimed at development of novel means of the vascular system protection. Mutual efforts of clinicians and scientists should contribute to the productivity of results of translational cardiology...
July 2017: Kardiologiia
Nicole Hellenthal, Anna Gaertner-Rommel, Bärbel Klauke, Lech Paluszkiewicz, Markus Stuhr, Thoralf Kerner, Martin Farr, Klaus Püschel, Hendrik Milting
Aims: Coronary artery disease accounts for the majority of sudden cardiac deaths (SCD) in the older population whereas cardiomyopathies and arrhythmogenic abnormalities predominate in younger SCD victims (<35 years) with a significant genetic component. The elucidation of the pathogenetic cause of death might be relevant for the prevention of further deaths within affected families. Aim of this study was to determine the portion of underlying genetic heart diseases among unexplained putative SCD cases from a large German forensic department...
November 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Aikaterini Papagianni
Fibroblast Growth Factor (FGF)-23 increase is considered one of the earliest biochemical abnormalities in chronic kidney disease-mineral bone disorder (CKD-MBD). Furthermore, accumulating data have provided evidence of a link between increased FGF-23 levels and cardiovascular morbidity and mortality in CKD patients as well as in several other populations including cardiology patients and general population. The cellular and molecular mechanisms underlying the deleterious effect of FGF-23 on the cardiovascular system are not yet completely defined and are the focus of intense research...
September 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
Garrett W Shanks, David J Tester, Sneha Nishtala, Jared M Evans, Michael J Ackerman
BACKGROUND: WEMA (Whole-Exome Molecular Autopsy) and surveillance of cardiac channelopathy and cardiomyopathy genes represents the latest molecular autopsy for sudden death in the young (SDY). To date, the majority of WEMA has been performed on the SDY case only. METHODS AND RESULTS: We performed whole-exome sequencing and nucleotide-level coverage analysis on 28 SDY cases (18.4±7.8 years) and their parents to determine the inheritance patterns of ultrarare, nonsynonymous variants in 99 sudden death-susceptibility genes...
October 2017: Circulation. Cardiovascular Genetics
Soulemane Pessinaba, Yaovi Dodzi Molba Atti, Soodougoua Baragou, Machihude Pio, Yaovi Afassinou, Mohamed Kpélafia, Edem Goeh-Akué, Findibé Damorou
INTRODUCTION: This study provides an analysis of the evolutionary, clinical and epidemiological aspects of pulmonary embolism at the University Hospital Campus of Lome. METHODS: We conducted a retrospective, analytic and descriptive study over a period of 39 months (November 1 , 2011- January 31, 2015). All the medical records of patients hospitalized for PE in the Department of Cardiology at the University Hospital Campus were analyzed. RESULTS: The prevalence of PE was 3...
2017: Pan African Medical Journal
Kewal K Jain
Personalized management of cardiovascular disorders (CVD), also referred to as personalized or precision cardiology in accordance with general principles of personalized medicine, is selection of the best treatment for an individual patient. It involves the integration of various "omics" technologies such as genomics and proteomics as well as other new technologies such as nanobiotechnology. Molecular diagnostics and biomarkers are important for linking diagnosis with therapy and monitoring therapy...
2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
Katrina L Ellis, Michael B Boffa, Amirhossein Sahebkar, Marlys L Koschinsky, Gerald F Watts
Lipoprotein(a) [Lp(a)] is a highly heritable cardiovascular risk factor. Although discovered more than 50 years ago, Lp(a) has recently re-emerged as a major focus in the fields of lipidology and preventive cardiology owing to findings from genetic studies and the possibility of lowering elevated plasma concentrations with new antisense therapy. Data from genetic, epidemiological and clinical studies have provided compelling evidence establishing Lp(a) as a causal risk factor for atherosclerotic cardiovascular disease...
October 2017: Progress in Lipid Research
Stela Iurciuc, Anca Maria Cimpean, Florin Mitu, Rodica Heredea, Mircea Iurciuc
The true onset of atherosclerosis remains one of the biggest challenges for cardiologists. Is atheroma plaque development considered the earliest step of vascular aging? If so, when it starts? Before or after birth? If it starts before birth or early during childhood, it seems that Thomas Sydenham was right: "A man is as old as his arteries." Except disorganization of elastic fibers, less is known about the morphology of vascular aging and also about the molecular events influencing the age of arteries, arterial stiffness, and their role in the appearance of future complications...
2017: Clinical Interventions in Aging
Alban-Elouen Baruteau, David J Tester, Jamie D Kapplinger, Michael J Ackerman, Elijah R Behr
Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant mortality in developed countries, characterized by the death of infants for no obvious reason and without prior warning. The complex interaction of multiple factors in the pathogenesis of SIDS is illustrated by the 'triple risk hypothesis', which proposed that SIDS results from a convergence of three overlapping risk factors: a critical developmental period, an exogenous stressor, and underlying genetic and/or nongenetic vulnerability in the infant...
December 2017: Nature Reviews. Cardiology
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