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Molecular cardiology

Jorge Mejia, Ana Claudia Camargo Miranda, Ana Claudia Ranucci Durante, Larissa Rolim de Oliveira, Marycel Rosa Felisa Figols de Barboza, Katerin Taboada Rosell, Daniele Pereira Jardim, Alexandre Holthausen Campos, Marilia Alves Dos Reis, Marcela Forli Catanoso, Orfa Yineth Galvis-Alonso, Francisco Romero Cabral
Objective: To present the result of upgrading a clinical gamma-camera to be used to obtain in vivo tomographic images of small animal organs, and its application to register cardiac, renal and neurological images. Methods: An updated version of the miniSPECT upgrading device was built, which is composed of mechanical, electronic and software subsystems. The device was attached to a Discovery VH (General Electric Healthcare) gamma-camera, which was retired from the clinical service and installed at the Centro de Imagem Pré-Clínica of the Hospital Israelita Albert Einstein...
July 2016: Einstein
Markus Schwaiger, Karl Kunze, Christoph Rischpler, Stephan G Nekolla
After the successful introduction of PET/CT as a multimodality imaging technique, PET/MR has subsequently emerged as an attractive instrumentation for applications in neurology, oncology, and cardiology. Simultaneous data acquisition combining structural, functional, and molecular imaging provides a unique platform to link various aspects of cardiac performance for the non-invasive characterization of cardiovascular disease phenotypes. Specifically, tissue characterization by MR techniques with and without contrast agents allows for functional parameters such as LGE, myocardial perfusion, and T1 maps as well as an estimate of extracellular volume...
September 22, 2016: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
Francesco Danilo Tiziano, Vincenzo Palmieri, Maurizio Genuardi, Paolo Zeppilli
Although relatively rare, inherited primitive cardiac disorders (IPCDs) in athletes have a deep social impact since they often present as sudden cardiac death (SCD) of young and otherwise healthy persons. The diagnosis of these conditions is likely underestimated due to the lack of shared clinical criteria and to the existence of several borderline clinical pictures. We will focus on the clinical and molecular diagnosis of the most common IPCDs, namely hypertrophic cardiomyopathies, long QT syndrome, arrhythmogenic right ventricular cardiomyopathy, and left ventricular non-compaction...
2016: Frontiers in Cardiovascular Medicine
Livia Garavelli, Ilenia Maini, Federica Baccilieri, Ivan Ivanovski, Marzia Pollazzon, Simonetta Rosato, Lorenzo Iughetti, Sheila Unger, Andrea Superti-Furga, Marco Tartaglia
UNLABELLED: Myhre syndrome (OMIM 139210) is a rare developmental disorder inherited as an autosomal dominant trait and caused by a narrow spectrum of missense mutations in the SMAD4 gene. The condition features characteristic face, short stature, skeletal anomalies, muscle pseudohypertrophy, restricted joint mobility, stiff and thick skin, and variable intellectual disability. While most of the clinical features manifest during childhood, the diagnosis may be challenging during the first years of life...
October 2016: European Journal of Pediatrics
Attila Ambrus, Junjie Wang, Reka Mizsei, Zsofia Zambo, Beata Torocsik, Frank Jordan, Vera Adam-Vizi
Pathogenic amino acid substitutions of the common E3 component (hE3) of the human alpha-ketoglutarate dehydrogenase and the pyruvate dehydrogenase complexes lead to severe metabolic diseases (E3 deficiency), which usually manifest themselves in cardiological and/or neurological symptoms and often cause premature death. To date, 14 disease-causing amino acid substitutions of the hE3 component have been reported in the clinical literature. None of the pathogenic protein variants has lent itself to high-resolution structure elucidation by X-ray or NMR...
August 17, 2016: Biochimica et Biophysica Acta
Mikio Mukai
In Japan, cardiovascular diseases are frequent complications in cancer patients owing to the rapidly aging population and changes in the overall lifestyle. In addition, cancer itself including advanced cancer, and certain therapies used to treat it, often cause further cardiovascular complications. Moreover, although the recently developed molecularly targeted cancer drugs have improved patient prognosis, unexpected cardiovascular side effects, especially cardiotoxicity, have become an important limitation of cancer therapy...
August 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
Catherine Hatzantonis, Marcin Czyz, Renata Pyzik, Bronek M Boszczyk
BACKGROUND: Vertebroplasty carries multiple complications due to the leakage of polymethylmethacrylate (PMMA) into the venous system through the iliolumbar or epidural veins. The rate of venous cement complications may vary from 1 to 10 %, with cement extravasation into the venous system in 24 % of patients. Emboli may further migrate into the right heart chambers and pulmonary arteries. Patients may vary in presentation from asymptomatic or symptoms such as syncope to life-threatening complications...
August 17, 2016: European Spine Journal
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No abstract text is available yet for this article.
October 2016: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
Nynke Hofman, Arthur A M Wilde
Ventricular arrhythmias without structural heart disease are responsible for ∼35% of patients who have sudden cardiac death before the age of 40 years. Molecular autopsy and/or cardiological investigation of nearby family members often reveals the diagnosis and genetic testing can be helpful in family screening and risk stratification in disease carriers. Extended gene panels can be screened in a short period of time at low cost. A multidisciplinary team of (genetically) specialized clinicians is necessary to judge all the available details and to decide on the significance of the variant and further strategies...
September 2016: Cardiac Electrophysiology Clinics
Zhong Jian, Yi-Je Chen, Rafael Shimkunas, Yuwen Jian, Mark Jaradeh, Karen Chavez, Nipavan Chiamvimonvat, Jil C Tardiff, Leighton T Izu, Robert S Ross, Ye Chen-Izu
Isolation of high quality cardiomyocytes is critically important for achieving successful experiments in many cellular and molecular cardiology studies. Methods for isolating cardiomyocytes from the murine heart generally are time-sensitive and experience-dependent, and often fail to produce high quality cells. Major technical difficulties can be related to the surgical procedures needed to explant the heart and to cannulate the vessel to mount onto the Langendorff system before in vitro reperfusion can begin...
2016: PloS One
Giangiacomo Torri, Annamaria Naggi
On the centenary of the discovery of heparin, the International Journal of Cardiology agreed to publish a collection of mini reviews that summarize the historical development of this ever-young life-saving drug. The present articles deal not only with the historical milestones, but also with current and future perspectives regarding the development of heparin in terms of its structure, as well as on-going biochemical, biological and clinical research. Attention is focused on recent applications of heparin derivatives to non-anticoagulant or antithrombotic therapies, providing particular emphasis on their inhibitory activities, including their potential as anti-cancer agents...
June 2016: International Journal of Cardiology
Juan Salazar, Eliana Luzardo, José Carlos Mejías, Joselyn Rojas, Antonio Ferreira, José Ramón Rivas-Ríos, Valmore Bermúdez
Epicardial fat is closely related to blood supply vessels, both anatomically and functionally, which is why any change in this adipose tissue's behavior is considered a potential risk factor for cardiovascular disease development. When proinflammatory adipokines are released from the epicardial fat, this can lead to a decrease in insulin sensitivity, low adiponectin production, and an increased proliferation of vascular smooth muscle cells. These adipokines move from one compartment to another by either transcellular passing or diffusion, thus having the ability to regulate cardiac muscle activity, a phenomenon called vasocrine regulation...
2016: Cardiology Research and Practice
Raphaël André, Benjamin Ehresmann, Jérôme Stirnemann, Jörg D Seebach
Whipple disease is a rare and potentially fatal bacterial infection induced by a Gram-positive bacillus, Tropheryma whipplei. It is responsible for articular, digestive, neurological, ophthalmological and cardiological symptoms that occur either concomitant or isolated. Thus, the diagnosis is difficult to make and therefore often delayed. A paradoxal exacerbation of the symptoms under immunosuppressive drugs such as glucocorticoids and anti-TNF mAb, or inexpected improvements under antibiotic treatment applied for other reasons should raise a clinicial suspicion of Whipple's disease...
April 6, 2016: Revue Médicale Suisse
J L Vercher-Conejero, C Gámez Cenzano
The development of molecular and functional imaging with new imaging techniques such as computed tomography, magnetic resonance imaging, and positron emission tomography (PET) among others, has greatly improved the detection of tumors, tumor staging, and the detection of possible recurrences. Furthermore, the combination of these different imaging modalities and the continual development of radiotracers for PET have advanced our understanding and knowledge of the different pathophysiological processes in cancer, thereby helping to make treatment more efficacious, improving patients' quality of life, and increasing survival...
July 2016: Radiología
C S Abboud, J Monteiro, M E Stryjewski, E C Zandonadi, V Barbosa, D Dantas, E E Sousa, M J Fonseca, D M Jacobs, A C Pignatari, C Kiffer, G G Rao
Invasive infections due to carbapenem-resistant Enterobacteriaceae (CRE), including polymyxin-resistant (PR-CRE) strains, are being increasingly reported. However, there is a lack of clinical data for several life-threatening infections. Here we describe a cohort of patients with post-surgical mediastinitis due to CRE, including PR-CRE. This study was a retrospective cohort design at a single cardiology centre. Patients with mediastinitis due to CRE were identified and were investigated for clinically relevant variables...
May 2016: International Journal of Antimicrobial Agents
Anthony C Dona, Sean Coffey, Gemma Figtree
Numerous molecular screening strategies have recently been developed to measure the chemical diversity of a population's biofluids with the ultimate aim to provide clinicians, medical scientists and epidemiologists with a clearer picture of the presence and severity of cardiovascular disease; prognosis; and response to treatment. Current cardiology practice integrates clinical history and examination with state-of-the-art imaging, invasive measures, and electrical interrogation. Biomarkers in common clinical use are relatively limited to troponin and brain natriuretic peptide, dependent on damage to heart muscle, or myocyte 'stretch' respectively...
October 2016: European Journal of Preventive Cardiology
Grazia Artioli, Lucia Borgato, Sara Calamelli, Giuseppe Azzarello
BACKGROUND: Uterine leiomyosarcoma (LMS) is a rare malignancy of mesenchymal tissues and in advanced stages its prognosis is very poor. Surgery followed by radiotherapy and/or chemotherapy is the treatment of choice for advanced disease. Cardiac metastases are very uncommon and only a few cases have been described to date. CASE: A 55-year-old woman was referred to our center for a uterine LMS with lung metastases at diagnosis. After 3 lines of chemotherapy for persistent lung disease, CT scan showed suspected thrombosis in the right pulmonary vein, along with disease progression in the lungs...
April 9, 2016: Tumori
Narendra Singh, Milan Gupta
Randomized clinical trials (RCTs) remain the foundation for assessing and introducing evidence-based therapies into cardiovascular (CV) medicine. In 2015, a number of RCTs were reported and published that have great potential to improve CV outcomes and thus to change clinical practice. We highlight the results and implications of major RCTs in the areas of acute coronary syndrome (ACS), interventional cardiology, atrial fibrillation, lipids, heart failure, diabetes, and hypertension. Among the trials we discuss, PEGASUS and DAPT provide guidance regarding the potential benefits and hazards of longer-term dual-antiplatelet therapy after percutaneous coronary intervention (PCI) or myocardial infarction (MI)...
August 2016: Canadian Journal of Cardiology
Fiona Cann, Michael Corbett, Dawn O'Sullivan, Stephen Tennant, Hazel Hailey, James Hk Grieve, Paul Broadhurst, Rosslyn Rankin, John Cs Dean
A phenotype driven approach to molecular autopsy based in a multidisciplinary team comprising clinical and laboratory genetics, forensic medicine and cardiology is described. Over a 13 year period, molecular autopsy was undertaken in 96 sudden cardiac death cases. 46 cases aged 1-40 years had normal hearts and suspected arrhythmic death. 7 (15%) had likely pathogenic variants in ion channelopathy genes (KCNQ1 (1), KCNH2 (4), SCN5A (1), RyR2(1)). 50 cases aged between 2 and 67 had a cardiomyopathy. 25 had Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), 10 Dilated Cardiomyopathy (DCM) and 15 Hypertrophic Cardiomyopathy (HCM)...
March 22, 2016: Clinical Genetics
M Akaberi, M Iranshahi, S Mehri
The genus Salvia, from the Lamiaceae family, has diverse biological properties that are primarily attributable to their diterpene contents. There is no comprehensive review on the molecular signaling pathways of these active components. In this review, we investigated the molecular targets of bioactive Salvia diterpenes responsible for the treatment of nervous and cardiovascular diseases. The effects on different pathways, including apoptosis signaling, oxidative stress phenomena, the accumulation of amyloid beta plaques, and tau phosphorylation, have all been considered to be mechanisms of the anti-Alzheimer properties of Salvia diterpenes...
June 2016: Phytotherapy Research: PTR
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