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https://www.readbyqxmd.com/read/28333919/exome-sequencing-based-molecular-autopsy-of-formalin-fixed-paraffin-embedded-tissue-after-sudden-death
#1
Richard D Bagnall, Jodie Ingles, Laura Yeates, Samuel F Berkovic, Christopher Semsarian
PURPOSE: Sudden death in the young is a devastating complication of inherited heart disorders. Finding the precise cause of death is important, but it is often unresolved after postmortem investigation. The addition of postmortem genetic testing, i.e., the molecular autopsy, can identify additional causes of death. We evaluated DNA extracted from formalin-fixed paraffin-embedded postmortem tissue for exome sequencing-based molecular autopsy after sudden death in the young. METHODS: We collected clinical and postmortem information from patients with sudden death...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28330129/the-recombinant-pea-defensin-drr230a-is-active-against-impacting-soybean-and-cotton-pathogenic-fungi-from-the-genera-fusarium-colletotrichum-and-phakopsora
#2
Ariane Ferreira Lacerda, Rafael Perseghini Del Sarto, Marilia Santos Silva, Erico Augusto Rosas de Vasconcelos, Roberta Ramos Coelho, Vanessa Olinto Dos Santos, Claudia Vieira Godoy, Claudine Dinali Santos Seixas, Maria Cristina Mattar da Silva, Maria Fatima Grossi-de-Sa
Plant defensins are antifungal peptides produced by the innate immune system plants developed to circumvent fungal infection. The defensin Drr230a, originally isolated from pea, has been previously shown to be active against various entomopathogenic and phytopathogenic fungi. In the present study, the activity of a yeast-expressed recombinant Drr230a protein (rDrr230a) was tested against impacting soybean and cotton fungi. First, the gene was subcloned into the yeast expression vector pPICZαA and expressed in Pichia pastoris...
June 2016: 3 Biotech
https://www.readbyqxmd.com/read/28329289/repair-of-calcified-left-ventricular-pseudoaneurysm-of-long-duration
#3
Orhan Saim Demirtürk, Elif Karadeli, Utku Alemdaroglu, Mustafa Yilmaz
Cardiac pseudoaneurysm is a contained rupture of the myocardium limited by pericardial adhesions or the epicardial wall. Cardiac pseudoaneurysm may cause sudden death with a mortality of 30-45% in the first year, mostly resulting from rupture. Coronal and axial T2-weighted magnetic resonance images of a 65-year-old male patient admitted with dyspnoea, coughing and chest pain, present for the last 10 days, revealed a large pseudoaneursym of the left ventricle. Coronary bypass and left ventricular restoration operation was performed...
February 23, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28327871/rare-association-of-two-genetic-causes-of-sudden-death-in-a-young-survivor
#4
Dulce Brito, Andreia Magalhães, Nuno Cortez-Dias, Gabriel Miltenberger-Miltenyi
No abstract text is available yet for this article.
February 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28327099/differential-cytokine-profiling-in-chagasic-patients-according-to-their-arrhythmogenic-status
#5
Héctor Rodríguez-Angulo, Juan Marques, Ivan Mendoza, Marco Villegas, Alfredo Mijares, Núria Gironès, Manuel Fresno
BACKGROUND: Chagas disease is caused by the protozoan Trypanosoma cruzi and is characterized by heart failure and sudden death. Identifying which factors are involved in evolution and treatment response is actually challenging. Thus, the aim of this work was to determine the Th1/Th17 (IL-6, IL-2, TNF, IL-17 and IFN-γ) and Th2 (IL-4 and IL-10) serum profile in Venezuelan Chagasic patients stratified according amiodarone treatment, hypertension and arrhythmias. METHODS: Sera from 38 chagasic patients were analyzed to determine the level of cytokines by Multiplexed Bead-Based Immunoassays...
March 21, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28325512/-sudden-death-of-a-young-man-as-late-sequelae-complicating-a-pediatric-disease-about-a-case
#6
Clémence Pierry, Camille Franchet, Lucile Tuchtan-Torrents, Céline Macon, Julia Torrents, Caroline Capuani, Marie-Dominique Piercecchi-Marti
In France, sudden death is responsible every year for 40,000 deaths. The most frequent etiology is cardiac disease. Atheromatous-related pathology is the most common etiology beyond 35, but cardiomyopathies and channelopathies are responsible for a significant number of deaths in young adults. Some acquired disorders can also cause sudden cardiac death. We report the case of a 17-year-old man who died suddenly after sport. Autopsy and pathological study found multiple giant coronary aneurysms. Thrombosis and fibrous scar of myocardial ischemic events were observed...
March 18, 2017: Annales de Pathologie
https://www.readbyqxmd.com/read/28325445/nonlinear-model-on-pulsatile-flow-of-blood-through-a-porous-bifurcated-arterial-stenosis-in-the-presence-of-magnetic-field-and-periodic-body-acceleration
#7
R Ponalagusamy, S Priyadharshini
BACKGROUND AND OBJECTIVE: Background and Objective: The motivation of cardiovascular modeling is to understand the haemodynamic and mechanical factors in the diagnosis and treatment of cardiovascular diseases. Several investigations have been carried out by many authors to understand the flow properties of blood in modelling blood flows in the circulatory system. In the present article, the pulsatile flow of Herschel-Bulkley fluid through a bifurcated arterial stenosis in a porous medium with magnetic field and periodic body acceleration has been investigated in view of understanding the role of rheological behaviour of blood, stenotic height, bifurcation angle, magnetic field and porosity of wall in the initiation and proliferation of cardiovascular diseases...
April 2017: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/28323171/acquired-long-qt-syndrome-in-hospitalized-patients
#8
Haixu Yu, Li Zhang, Jinqiu Liu, Ying Liu, Peter R Kowey, Yanli Zhang, Yue Chen, Yushan Wei, Lianjun Gao, Huihua Li, Jie Du, Yunlong Xia
BACKGROUND: Acquired long QT syndrome (ALQTS) has long been overlooked in clinical practice. Recent studies reported that severe ALQTS (QTc ≥500 ms) in hospitalized patients is associated with increased all-cause mortality. OBJECTIVE: We aimed to determine the role of ALQTS in the clinical outcomes of hospitalized patients. METHODS: Electronic medical records were reviewed to identify severe ALQTS in hospitalized patients in a single study center from 9-1-2013 to 2-28-2014...
March 16, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28322302/mechanistic-insights-into-the-anti-angiogenic-activity-of-trypanosoma-cruzi-protein-21-and-its-potential-impact-on-the-onset-of-chagasic-cardiomyopathy
#9
Samuel Cota Teixeira, Daiana Silva Lopes, Sarah Natalie Cirilo Gimenes, Thaise Lara Teixeira, Marcelo Santos da Silva, Rebecca Tavares E Silva Brígido, Felipe Andrés Cordero da Luz, Aline Alves da Silva, Makswell Almeida Silva, Pilar Veras Florentino, Paula Cristina Brígido Tavares, Marlus Alves Dos Santos, Veridiana de Melo Rodrigues Ávila, Marcelo José Barbosa Silva, Maria Carolina Elias, Renato Arruda Mortara, Claudio Vieira da Silva
Chronic chagasic cardiomyopathy (CCC) is arguably the most important form of the Chagas Disease, caused by the intracellular protozoan Trypanosoma cruzi; it is estimated that 10-30% of chronic patients develop this clinical manifestation. The most common and severe form of CCC can be related to ventricular abnormalities, such as heart failure, arrhythmias, heart blocks, thromboembolic events and sudden death. Therefore, in this study, we proposed to evaluate the anti-angiogenic activity of a recombinant protein from T...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28320263/duck-virus-enteritis-duck-plague-a-comprehensive-update
#10
Kuldeep Dhama, Naveen Kumar, Mani Saminathan, Ruchi Tiwari, Kumaragurubaran Karthik, M Asok Kumar, M Palanivelu, Muhammad Zubair Shabbir, Yashpal Singh Malik, Raj Kumar Singh
Duck virus enteritis (DVE), also called duck plague, is one of the major contagious and fatal diseases of ducks, geese and swan. It is caused by duck enteritis virus (DEV)/Anatid herpesvirus-1 of the genus Mardivirus, family Herpesviridae, and subfamily Alpha-herpesvirinae. Of note, DVE has worldwide distribution, wherein migratory waterfowl plays a crucial role in its transmission within and between continents. Furthermore, horizontal and/ or vertical transmission plays a significant role in disease spread through oral-fecal discharges...
December 2017: Veterinary Quarterly
https://www.readbyqxmd.com/read/28318853/predicting-risk-of-sudden-death-in-hypertrophic-cardiomyopathy-can-additional-simple-markers-help
#11
Dulce Brito
No abstract text is available yet for this article.
March 16, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28318658/sudden-death-in-athletes
#12
Domenico Corrado, Alessandro Zorzi
Competitive sports activity is associated with an increased risk of sudden cardiovascular death (SCD) in adolescents and young adults with clinically silent cardiovascular disorders. While in middle-aged/senior athletes atherosclerotic coronary artery disease accounts for the vast majority of SCDs, in young athletes the spectrum of substrates is wider and includes inherited (cardiomyopathies) and congenital (anomalous origin of coronary arteries) structural heart diseases. Inherited ion channel diseases have been implicated in SCDs occurring with an apparently normal heart at autopsy...
March 10, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28315637/trpm4-non-selective-cation-channel-variants-in-long-qt-syndrome
#13
Thomas Hof, Hui Liu, Laurent Sallé, Jean-Jacques Schott, Corinne Ducreux, Gilles Millat, Philippe Chevalier, Vincent Probst, Romain Guinamard, Patrice Bouvagnet
BACKGROUND: Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterized by prolongation of the QT interval, a risk of syncope, and sudden death. There are already a number of causal genes in LQTS, but not all LQTS patients have an identified mutation, which suggests LQTS unknown genes. METHODS: A cohort of 178 LQTS patients, with no mutations in the 3 major LQTS genes (KCNQ1, KCNH2, and SCN5A), was screened for mutations in the transient potential melastatin 4 gene (TRPM4)...
March 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28306693/cocaine-and-coronary-artery-diseases-a-systematic-review-of-the-literature
#14
Giovanni P Talarico, Maria L Crosta, Maria B Giannico, Francesco Summaria, Leonardo Calò, Roberto Patrizi
Cocaine is associated with important cardiac complications such as sudden death, acute myocarditis, dilated cardiomyopathy, life-threatening arrhythmias, and myocardial ischemia as well as infarction. It is well known that cocaine may induce vasospasm through adrenergic stimulation of the coronary arteries. Moreover, cocaine may promote intracoronary thrombosis, triggered by alterations in the plasma constituents, and platelet aggregation, leading to subsequent myocardial infarction. The long-term use of cocaine may stimulate atherosclerosis, probably through endothelial cell dysfunction...
March 16, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28302739/changing-landscape-of-congenital-heart-disease
#15
Berto J Bouma, Barbara J M Mulder
Congenital heart disease is the most frequently occurring congenital disorder affecting ≈0.8% of live births. Thanks to great efforts and technical improvements, including the development of cardiopulmonary bypass in the 1950s, large-scale repair in these patients became possible, with subsequent dramatic reduction in morbidity and mortality. The ongoing search for progress and the growing understanding of the cardiovascular system and its pathophysiology refined all aspects of care for these patients. As a consequence, survival further increased over the past decades, and a new group of patients, those who survived congenital heart disease into adulthood, emerged...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28297815/-clinical-characteristics-and-prognosis-of-mediastinal-fibrosis
#16
J P Liao, Y Hu, J X Qiu, Z Jin, H Zhang, J Ma, G F Wang
Objective: To investigate the clinical characteristics and prognosis of mediastinal fibrosis. Methods: Twelve patients with mediastinal fibrosis diagnosed between 2008 and 2015 in our hospital were studied retrospectively. Clinical manifestations, radiological characteristics, endoscopic features, treatment and prognosis were analyzed. Results: There were 3 males and 9 females, with a mean age of 68.8 years.Six patients had previous tuberculosis infection. The most common clinical symptoms were dyspnea on exertion (11 cases), cough (7 cases), and wheezing (6 cases)...
March 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28295054/microfluidic-device-enabled-quantitative-time-lapse-microscopic-photography-for-phenotyping-vegetative-and-reproductive-phases-in-fusarium-virguliforme-which-is-pathogenic-to-soybean
#17
Jill Marshall, Xuan Qiao, Jordan Baumbach, Jingyu Xie, Liang Dong, Madan K Bhattacharyya
Time-lapse microscopic-photography allows in-depth phenotyping of microorganisms. Here we report development of such a system using a microfluidic device, generated from polydimethylsiloxane and glass slide, placed on a motorized stage of a microscope for conducting time-lapse microphotography of multiple observations in 20 channels simultaneously. We have demonstrated the utility of the device in studying growth, germination and sporulation in Fusarium virguliforme that causes sudden death syndrome in soybean...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28295041/exome-sequencing-identifies-primary-carnitine-deficiency-in-a-family-with-cardiomyopathy-and-sudden-death
#18
Najim Lahrouchi, Elisabeth M Lodder, Maria Mansouri, Rafik Tadros, Layla Zniber, Najlae Adadi, Sally-Ann B Clur, Karin Y van Spaendonck-Zwarts, Alex V Postma, Abdelaziz Sefiani, Ilham Ratbi, Connie R Bezzina
Pediatric cardiomyopathy is a rare but severe disease with high morbidity and mortality. The causes are poorly understood and can only be established in one-third of cases. Recent advances in genetic technologies, specifically next-generation sequencing, now allow for the detection of genetic causes of cardiomyopathy in a systematic and unbiased manner. This is particularly important given the large clinical variability among pediatric cardiomyopathy patients and the large number of genes (>100) implicated in the disorder...
March 15, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28293624/excessive-exercise-habits-in-marathoners-as-novel-indicators-of-masked-hypertension
#19
Young-Joo Kim, Yongbum Park, Duk-Ho Kang, Chul-Hyun Kim
Background. Excessive exercise such as marathon running increases the risk of cardiovascular events that may be related to myocardial infarction and sudden death. We aimed to investigate that the exercise characteristics can be used as a novel indicator of masked hypertension. Methods. A total of 571 middle-aged recreational male marathoners were assigned to a high blood pressure group (HBPG; n = 214) or a normal blood pressure group (NBPG; n = 357). A graded exercise test was used to examine the hemodynamic response and cardiac events, and the personal exercise characteristics were recorded...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28292197/sudden-death-risk-stratification-in-non-ischemic-dilated-cardiomyopathy-using-old-and-new-tools-a-clinical-challenge
#20
Antonis S Manolis
Risk stratification for sudden cardiac death in non-ischemic dilated cardiomyopathy (NIDCM) remains a clinical challenge. Areas Covered: Currently, left ventricular ejection fraction (LVEF), severity of heart failure symptoms according to NYHA classification, and morphology and duration of the QRS complex guide device management in these patients with implantation of a cardioverter defibrillator (ICD) and/or cardiac resynchronization therapy (CRT) devices. Recently, the results of a randomized trial stirred some controversy regarding the utility of ICD in NIDCM patients, however, a subsequent meta-analysis confirmed prior findings of the survival-prolonging benefit of device therapy...
March 15, 2017: Expert Review of Cardiovascular Therapy
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