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Molecular cardiology

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https://www.readbyqxmd.com/read/28904659/-pulmonary-embolism-at-the-university-hospital-campus-of-lome-togo-a-retrospective-study-about-51-cases
#1
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
https://www.readbyqxmd.com/read/28898880/personalized-management-of-cardiovascular-disorders
#2
Kewal K Jain
Personalized management of cardiovascular disorders (CVDs), also referred to as personalized or precision cardiology in accordance with general principles of personalized medicine, is the selection of 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 of therapy. Because CVDs involve perturbations of large complex biological networks, a systems biology approach to CVD risk stratification may be used for improving risk-estimating algorithms and modeling of personalized benefit-of-treatment may be helpful for guiding choice of intervention...
September 11, 2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/28888913/the-renaissance-of-lipoprotein-a-brave-new-world-for-preventive-cardiology
#3
REVIEW
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...
September 6, 2017: Progress in Lipid Research
https://www.readbyqxmd.com/read/28883714/vascular-aging-and-subclinical-atherosclerosis-why-such-a-never-ending-and-challenging-story-in-cardiology
#4
EDITORIAL
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
https://www.readbyqxmd.com/read/28880023/sudden-infant-death-syndrome-and-inherited-cardiac-conditions
#5
REVIEW
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...
September 7, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28865775/cardiac-clocks-and-preclinical-translation
#6
REVIEW
Priya Mistry, Austin Duong, Lorrie Kirshenbaum, Tami A Martino
Circadian rhythms are fundamentally important for cardiovascular health, including heart rate, blood pressure, and molecular gene and protein responses. Rhythms also play a direct role in the pathophysiology of heart disease, such as in the timing of onset and severity of myocardial infarction, sudden cardiac death, ventricular arrhythmias, and stroke. Importantly, a flurry of new studies reveals translational applications for circadian biology to clinical medicine, and especially cardiology. Circadian medicine is a promising new approach that targets the heart's daily physiologic and molecular rhythms to benefit the treatment of patients with cardiovascular disease...
October 2017: Heart Failure Clinics
https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#7
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742517/type-1-rhizomelic-chondrodysplasia-punctata-with-a-homozygous-pex7-mutation
#8
Nursel Muratoğlu Şahin, Meliha Esra Bilici, Erdal Kurnaz, Melek Pala Akdoğan, Serdar Ceylaner, Zehra Aycan
BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28670462/looking-to-the-future-of-organs-on-chips-interview-with-professor-john-wikswo
#9
John P Wikswo
John Wikswo talks to Francesca Lake, Managing Editor: John is the founding Director of the Vanderbilt Institute for Integrative Biosystems Research and Education (VIIBRE). He is also the Gordon A Cain University Professor; a B learned Professor of Living State Physics; and a Professor of Biomedical Engineering, Molecular Physiology and Biophysics, and Physics. John earned his PhD in physics at Stanford University (CA, USA). After serving as a Research Fellow in Cardiology at Stanford, he joined the Department of Physics and Astronomy at Vanderbilt University (TN, USA), where he went on to make the first measurement of the magnetic field of an isolated nerve...
June 2017: Future Science OA
https://www.readbyqxmd.com/read/28642940/mass-spectrometry-imaging-for-clinical-research-latest-developments-applications-and-current-limitations
#10
REVIEW
Pierre-Maxence Vaysse, Ron M A Heeren, Tiffany Porta, Benjamin Balluff
Mass spectrometry is being used in many clinical research areas ranging from toxicology to personalized medicine. Of all the mass spectrometry techniques, mass spectrometry imaging (MSI), in particular, has continuously grown towards clinical acceptance. Significant technological and methodological improvements have contributed to enhance the performance of MSI recently, pushing the limits of throughput, spatial resolution, and sensitivity. This has stimulated the spread of MSI usage across various biomedical research areas such as oncology, neurological disorders, cardiology, and rheumatology, just to name a few...
July 24, 2017: Analyst
https://www.readbyqxmd.com/read/28607545/the-genetics-of-aortopathies-in-clinical-cardiology
#11
REVIEW
Amit Goyal, Ali R Keramati, Matthew J Czarny, Jon R Resar, Arya Mani
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets...
2017: Clinical Medicine Insights. Cardiology
https://www.readbyqxmd.com/read/28579060/human-dihydrolipoamide-dehydrogenase-e3-deficiency-novel-insights-into-the-structural-basis-and-molecular-pathomechanism
#12
REVIEW
Attila Ambrus, Vera Adam-Vizi
This review summarizes our present view on the molecular pathogenesis of human (h) E3-deficiency caused by a variety of genetic alterations with a special emphasis on the moonlighting biochemical phenomena related to the affected (dihydro)lipoamide dehydrogenase (LADH, E3, gene: dld), in particular the generation of reactive oxygen species (ROS). E3-deficiency is a rare autosomal recessive genetic disorder frequently presenting with a neonatal onset and premature death; the highest carrier rate of a single pathogenic dld mutation (1:94-1:110) was found among Ashkenazi Jews...
June 2, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28561006/strategies-for-long-term-preservation-of-kidney-graft-function
#13
REVIEW
Thomas Wekerle, Dorry Segev, Robert Lechler, Rainer Oberbauer
Kidney transplantation has become a routine procedure in the treatment of patients with kidney failure, and requires collaboration of experts from different disciplines, such as nephrology, surgery, immunology, pathology, infectious disease medicine, cardiology, and oncology. Grafts can be obtained from deceased or living donors, with different logistical requirements and implications for long-term graft patency. 1-year graft survival rates are greater than 95% in many centres but improvement of long-term function remains a challenge...
May 27, 2017: Lancet
https://www.readbyqxmd.com/read/28512159/employing-extracellular-volume-cardiovascular-magnetic-resonance-measures-of-myocardial-fibrosis-to-foster-novel-therapeutics
#14
REVIEW
Erik B Schelbert, Hani N Sabbah, Javed Butler, Mihai Gheorghiade
Quantifying myocardial fibrosis (MF) with myocardial extracellular volume measures acquired during cardiovascular magnetic resonance promises to transform clinical care by advancing pathophysiologic understanding and fostering novel therapeutics. Extracellular volume quantifies MF by measuring the extracellular compartment depicted by the myocardial uptake of contrast relative to plasma. MF is a key domain of dysfunctional but viable myocardium among others (eg, microvascular dysfunction and cardiomyocyte/mitochondrial dysfunction)...
June 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28493201/nuclear-cardiology-practice-in-spain
#15
Amelia Jimenez-Heffernan, Santiago Aguade-Bruix, Irene Casans-Tormo
BACKGROUND: In Spain, nuclear cardiology (NC) procedures represent the second most frequently performed studies in nuclear medicine (NM) centers. METHODS: The NC Working Group of the Spanish Society of Nuclear Medicine and Molecular Imaging invited NM departments across the country to answer an online questionnaire regarding 2014 activity. RESULTS: Data on 40,161 patients from 42 centers were collected. The responding public centers served 39% of Spain´s population...
May 10, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28484805/-practical-guidelines-for-genetic-testing-in-cardiovascular-diseases
#16
W Reinhard, T Trenkwalder, H Schunkert
In the last decade, genetic testing for cardiovascular disorders has become more and more relevant. Progress in molecular genetics has led to new opportunities for diagnostics, improved risk prediction and could lead to novel therapeutic approaches. Genetic diagnostic testing is relevant for both confirming a diagnosis as well as deciding on therapeutic consequences, if applicable. Furthermore, predictive testing in family members for specific cardiovascular diseases is now a standard procedure in holistic patient management...
August 2017: Herz
https://www.readbyqxmd.com/read/28451703/-inflammatory-cardiomyopathy-and-myocarditis
#17
B Maisch, A D Ristic, S Pankuweit
We describe diagnosis, differential diagnosis, multimodality imaging and medical and invasive diagnostic treatment in patients with inflammatory cardiomyopathy and myocarditis under etiological considerations in reference to a landmark position paper of the Working Group Myocardial and Pericardial Diseases of the European Society of Cardiology together with recent developments in diagnosis and treatment. Diagnosis of the symptomatic patient is the assessment of etiology of inflammatory cardiomyopathy, followed by the clinical presentation, course, treatment option and prognosis...
June 2017: Herz
https://www.readbyqxmd.com/read/28405885/sudden-death-due-to-catecholaminergic-polymorphic-ventricular-tachycardia-following-negative-stress-test-outcome-genetics-and-clinical-implications
#18
Cristian D'Ovidio, Aldo Carnevale, Vincenzo M Grassi, Enrica Rosato, Bernat Del Olmo, Monica Coll, Oscar Campuzano, Anna Iglesias, Ramon Brugada, Antonio Oliva
This paper discusses the case of a young boy who died suddenly during a football match. The victim's personal and family medical histories were negative for cardiac events. He had undergone a cardiological investigation some months before his death, enabling him to participate in competitive sports. Only post-mortem molecular analysis allowed for a clearer determination of the most plausible cause of death, which was identified as inherited arrhythmogenic heart disease, known as catecholaminergic polymorphic ventricular tachycardia...
June 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28360086/potential-impact-and-study-considerations-of-metabolomics-in-cardiovascular-health-and-disease-a-scientific-statement-from-the-american-heart-association
#19
REVIEW
Susan Cheng, Svati H Shah, Elizabeth J Corwin, Oliver Fiehn, Robert L Fitzgerald, Robert E Gerszten, Thomas Illig, Eugene P Rhee, Pothur R Srinivas, Thomas J Wang, Mohit Jain
Through the measure of thousands of small-molecule metabolites in diverse biological systems, metabolomics now offers the potential for new insights into the factors that contribute to complex human diseases such as cardiovascular disease. Targeted metabolomics methods have already identified new molecular markers and metabolomic signatures of cardiovascular disease risk (including branched-chain amino acids, select unsaturated lipid species, and trimethylamine-N-oxide), thus in effect linking diverse exposures such as those from dietary intake and the microbiota with cardiometabolic traits...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28316631/potential-impact-of-rapid-blood-culture-testing-for-gram-positive-bacteremia-in-japan-with-the-verigene-gram-positive-blood-culture-test
#20
Ken Kikuchi, Mari Matsuda, Shigekazu Iguchi, Tomonori Mizutani, Keiichi Hiramatsu, Michiru Tega-Ishii, Kaori Sansaka, Kenta Negishi, Kimie Shimada, Jun Umemura, Shigeyuki Notake, Hideji Yanagisawa, Hiroshi Takahashi, Reiko Yabusaki, Hideki Araoka, Akiko Yoneyama
Background. Early detection of Gram-positive bacteremia and timely appropriate antimicrobial therapy are required for decreasing patient mortality. The purpose of our study was to evaluate the performance of the Verigene Gram-positive blood culture assay (BC-GP) in two special healthcare settings and determine the potential impact of rapid blood culture testing for Gram-positive bacteremia within the Japanese healthcare delivery system. Furthermore, the study included simulated blood cultures, which included a library of well-characterized methicillin-resistant Staphylococcus aureus (MRSA) and vancomycin-resistant enterococci (VRE) isolates reflecting different geographical regions in Japan...
2017: Canadian Journal of Infectious Diseases & Medical Microbiology
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