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Sudden death syndrome

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https://www.readbyqxmd.com/read/28645806/brugada-syndrome-a-general-cardiologist-s-perspective
#1
REVIEW
Marija M Polovina, Milica Vukicevic, Bojan Banko, Gregory Y H Lip, Tatjana S Potpara
Brugada syndrome (BrS) is one of the commonest inherited primary arrhythmia syndromes typically presenting with arrhythmic syncope or sudden cardiac death (SCD) due to polymorphic ventricular tachycardia and ventricular fibrillation precipitated by vagotonia or fever in apparently healthy adults, less frequently in children. The prevalence of the syndrome (0.01%-0.3%) varies among regions and ethnicities, being the highest in Southeast Asia. BrS is diagnosed by the "coved type" ST-segment elevation≥2mm followed by a negative T-wave in ≥1 of the right precordial leads V1-V2...
June 20, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28643182/fvstr1-a-striatin-orthologue-in-fusarium-virguliforme-is-required-for-asexual-development-and-virulence
#2
Kazi T Islam, Jason P Bond, Ahmad M Fakhoury
The soil-borne fungus Fusarium virguliforme causes sudden death syndrome (SDS), one of the most devastating diseases of soybean in North and South America. Despite the importance of SDS, a clear understanding of the fungal pathogenicity factors that affect the development of this disease is still lacking. We have identified FvSTR1, a F. virguliforme gene, which encodes a protein similar to a family of striatin proteins previously reported to regulate signalling pathways, cell differentiation, conidiation, sexual development, and virulence in filamentous fungi...
June 22, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28640933/could-ivabradine-be-a-new-treatment-for-the-short-qt-syndrome
#3
EDITORIAL
Jules C Hancox
The short QT syndrome (SQTS) is a rare condition involving accelerated ventricular repolarization, abbreviated rate-corrected (QTc ) QT intervals on the electrocardiogram (ECG), poor rate adaptation of the QT interval, and an increased risk of atrial and ventricular arrhythmias and of sudden cardiac death (1-3). This article is protected by copyright. All rights reserved.
June 22, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28638575/danon-disease-for-the-cardiologist-case-report-and-review-of-the-literature
#4
Ryan S D'souza, Luisa Mestroni, Matthew R G Taylor
Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disease is the ultimate cause of demise in many patients if left untreated. Given the rarity of the condition, the natural history is poorly understood. Here, we present a case report on a 14-year-old Hispanic boy with Danon disease, highlighting major clinical events and diagnostic study findings over a six-year period from age of symptom onset to age of death...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28637118/asymptomatic-chiari-type-i-malformation-should-patients-be-advised-against-participation-in-contact-sports
#5
Robert Spencer, Paul Leach
BACKGROUND: Chiari type I malformation (CM-I) is characterised by caudal displacement of the cerebellar tonsils through the foramen magnum, crowding the craniocervical junction. It is being increasingly diagnosed in asymptomatic patients due to the widespread availability of MRI, and there are case reports of these patients suffering sudden death or neurological injury following head or neck trauma, raising the issue of whether they should be prohibited from contact sport participation, given the likelihood of frequent trauma...
March 2, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28633640/biological-mechanisms-discriminating-growth-rate-and-adult-body-weight-phenotypes-in-two-chinese-indigenous-chicken-breeds
#6
Tengfei Dou, Sumei Zhao, Hua Rong, Dahai Gu, Qihua Li, Ying Huang, Zhiqiang Xu, Xiaohui Chu, Linli Tao, Lixian Liu, Changrong Ge, Marinus F W Te Pas, Junjing Jia
BACKGROUND: Intensive selection has resulted in increased growth rates and muscularity in broiler chickens, in addition to adverse effects, including delayed organ development, sudden death syndrome, and altered metabolic rates. The biological mechanisms underlying selection responses remain largely unknown. Non-artificially-selected indigenous Chinese chicken breeds display a wide variety of phenotypes, including differential growth rate, body weight, and muscularity. The Wuding chicken breed is a fast growing large chicken breed, and the Daweishan mini chicken breed is a slow growing small chicken breed...
June 20, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28625016/brugada-syndrome-and-exercise-practice-current-knowledge-shortcomings-and-open-questions
#7
Giuseppe Mascia, Elena Arbelo, Jaime Hernández Ojeda, Francesco Solimene, Ramon Brugada, Josep Brugada
Since its recognition as a clinical entity in 1992, the Brugada Syndrome (BrS), a hereditary disease characterized by a typical electrocardiogram (ECG) pattern potentially predisposing to sudden cardiac death (SCD), has attracted the attention of many physicians for its circadian pattern of ventricular arrhythmias (VA), mostly occurring at rest. Exercise may potentially worsen the ECG abnormalities in BrS patients, resulting in higher peak J-point amplitudes during the vasovagal reaction of the recovery period, possibly leading to an increased risk of cardiac events...
June 18, 2017: International Journal of Sports Medicine
https://www.readbyqxmd.com/read/28619993/low-extracellular-potassium-prolongs-repolarization-and-evokes-early-afterdepolarization-in-human-induced-pluripotent-stem-cell-derived-cardiomyocytes
#8
Jukka Kuusela, Kim Larsson, Disheet Shah, Chandra Prajapati, Katriina Aalto-Setälä
Long QT syndrome (LQTS) is characterized by a prolonged QT-interval on electrocardiogram and by increased risk of sudden death. One of the most common and potentially life-threatening electrolyte disturbances is hypokalemia, characterized by low concentrations of K(+) Using a multielectrode array platform and current clamp technique, we investigated the effect of low extracellular K(+) concentration ([K(+)]Ex) on the electrophysiological properties of hiPSC-derived cardiomyocytes (CMs) generated from a healthy control subject (WT) and from two symptomatic patients with type 1 of LQTS carrying G589D (LQT1A) or IVS7-2A>G mutation (LQT1B) in KCNQ1 The baseline prolongations of field potential durations (FPDs) and action potential durations (APDs) were longer in LQT1-CMs than in WT-CMs...
June 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28616646/molecular-genetic-diagnostics-for-ventricular-arrhythmias-and-sudden-cardiac-death-syndromes
#9
B Stallmeyer, S Dittmann, G Seebohm, J Müller, E Schulze-Bahr
Inherited forms of ventricular arrhythmias are rare diseases, but a major cause for severe cardiac events, sudden unexplained death syndromes, and death in young adults, infants, and children. Each disorder is genetically heterogeneous (5-20 genes per disease) and molecular testing may include both core genes and less common disease genes as well. Owing to the rapid development and feasibility of sequencing technologies enabling a parallel analysis of several hundred genes up to a whole exome, disease mutations can be identified very efficiently, but have to be seen in the complexity and natural variance of the human genome...
June 14, 2017: Herz
https://www.readbyqxmd.com/read/28615326/prenatal-nicotinic-exposure-prolongs-superior-laryngeal-c-fiber-mediated-apnea-and-bradycardia-through-enhancing-neuronal-trpv1-expression-and-excitation
#10
Xiuping Gao, Lei Zhao, Jianguo Zhuang, Na Zang, Fadi Xu
Maternal cigarette smoke, including prenatal nicotinic exposure (PNE), is responsible for sudden infant death syndrome (SIDS). The fatal events of SIDS are characterized by severe bradycardia and life-threatening apneas. Although activation of transient receptor potential vanilloid 1 (TRPV1) of superior laryngeal C-fibers (SLCFs) could induce bradycardia and apnea and has been implicated in SIDS pathogenesis, how PNE affects the SLCF-mediated cardiorespiratory responses remains unexplored. Here, we tested the hypothesis that PNE would aggravate the SLCF-mediated apnea and bradycardia via up-regulating TRPV1 expression and excitation of laryngeal C-neurons in the nodose/jugular (N/J) ganglia...
June 14, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28608686/targeted-metabolic-profiling-of-post-mortem-brain-from-infants-who-died-from-sudden-infant-death-syndrome
#11
Stewart F Graham, Onur Turkoglu, Praveen Kumar, Ali Yilmaz, Trent C Bjorndahl, BeomSoo Han, Rupasri Mandal, David S Wishart, Ray O Bahado-Singh
Currently little is known about the underlying pathophysiology associated with SIDS, and no objective biomarkers exist for the accurate identification of those at greatest risk of dying from SIDS. Using targeted metabolomics, we aim to profile the medulla oblongata of infants who have died from SIDS (n = 16) and directly compare their biochemical profile with age matched controls. Combining data acquired using (1)H NMR and targeted DI-LC-MS/MS, we have identified fatty acid oxidation as a pivotal biochemical pathway perturbed in the brains of those infants who have from SIDS (p = 0...
June 20, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28606196/prescribing-an-automated-external-defibrillator-for-children-at-increased-risk-of-sudden-arrhythmic-death
#12
Karen A McLeod, Eileen Fern, Fiona Clements, Ruth McGowan
BACKGROUND: Automated external defibrillators can be life-saving in out-of-hospital cardiac arrest. OBJECTIVE: Our aim was to review our experience of prescribing automated external defibrillators for children at increased risk of sudden arrhythmic death. METHODS: We reviewed all automated external defibrillators issued by the Scottish Paediatric Cardiac Electrophysiology Service from 2005 to 2015. All parents were given resuscitation training according to the Paediatric Resuscitation Guidelines, including the use of the automated external defibrillator...
June 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28602955/etiological-diagnoses-of-out-of-hospital-cardiac-arrest-survivors-admitted-to-the-intensive-care-unit-insights-from-a-french-registry
#13
Guillaume Geri, Olivier Passouant, Florence Dumas, Wulfran Bougouin, Benoit Champigneulle, Michel Arnaout, Jonathan Chelly, Jean-Daniel Chiche, Olivier Varenne, Lucie Guillemet, Frederic Pène, Victor Waldmann, Jean-Paul Mira, Eloi Marijon, Alain Cariou
BACKGROUND: Respective proportions of final etiologies are disparate in cohorts of cardiac arrest patients, depending on examined population and diagnostic algorithms. In particular, prevalence and characteristics of sudden unexplained death syndrome (SUDS) are debated. We aimed at describing etiologies in a large cohort of aborted out-of-hospital cardiac arrest (OHCA) patients, in order to assess prevalence and outcome of SUDS. PATIENTS AND METHODS: We analyzed data from our prospective registry of successfully resuscitated OHCA patients admitted to a cardiac arrest centre between January 2002 and December 2014...
June 8, 2017: Resuscitation
https://www.readbyqxmd.com/read/28600387/genetic-testing-in-the-evaluation-of-unexplained-cardiac-arrest-from-the-casper-cardiac-arrest-survivors-with-preserved-ejection-fraction-registry
#14
Greg Mellor, Zachary W M Laksman, Rafik Tadros, Jason D Roberts, Brenda Gerull, Christopher S Simpson, George J Klein, Jean Champagne, Mario Talajic, Martin Gardner, Christian Steinberg, Laura Arbour, David H Birnie, Paul Angaran, Richard Leather, Shubhayan Sanatani, Vijay S Chauhan, Colette Seifer, Jeffrey S Healey, Andrew D Krahn
BACKGROUND: Unexplained cardiac arrest may be because of an inherited arrhythmia syndrome. The role of genetic testing in cardiac arrest survivors without a definite clinical phenotype is unclear. METHODS AND RESULTS: The CASPER (Cardiac Arrest Survivors with Preserved Ejection Fraction Registry) is a large registry of cardiac arrest survivors where initial assessment reveals normal coronary arteries, left ventricular function, and resting ECG. Of 375 cardiac arrest survivors in CASPER from 2006 to 2015, 174 underwent genetic testing...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28600177/compound-heterozygous-kcnq1-mutations-a300t-p535t-in-a-child-with-sudden-unexplained-death-insights-into-possible-molecular-mechanisms-based-on-protein-modeling
#15
Erika Antúnez-Argüelles, Arturo Rojo-Domínguez, Ana Leticia Arregui-Mena, Leonor Jacobo-Albavera, Manlio Fabio Márquez, Pedro Iturralde-Torres, María Teresa Villarreal-Molina
Sudden death in a child is a devastating event with important medical implications for surviving relatives. Because it may be the first manifestation of unknown inherited cardiac disease, molecular autopsy can be helpful to determine the cause of death and identify at risk family members. The aim of the study was to perform a molecular autopsy in a seven year-old girl with sudden unexplained death, to find evidence supporting the possible pathogenicity of mutations identified in inherited cardiac disease genes, and to clinically and genetically assess first-degree relatives...
June 6, 2017: Gene
https://www.readbyqxmd.com/read/28599697/paraneoplastic-cushing-syndrome-due-to-wilm-s-tumor
#16
Mahwish Faizan, Jaida Manzoor, Muhammad Saleem, Saadia Anwar, Qaiser Mehmood, Ambreen Hameed, Agha Shabbir Ali
Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity...
May 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28597987/trafficking-and-localization-to-the-plasma-membrane-of-nav-1-5-promoted-by-the-%C3%AE-2-subunit-is-defective-due-to-a-%C3%AE-2-mutation-associated-with-brugada-syndrome
#17
Gemma Dulsat, Sonia Palomeras, Eric Cortada, Helena Riuró, Ramon Brugada, Marcel Vergés
BACKGROUND INFORMATION: Cardiac channelopathies arise by mutations in genes encoding ion channel subunits. One example is Brugada Syndrome (BrS), which causes arrhythmias and sudden death. BrS is often associated with mutations in SCN5A, encoding Nav 1.5, the α subunit of the major cardiac voltage-gated sodium channel. This channel forms a protein complex including one or two associated β subunits as well as other proteins. RESULTS: We analyzed regulation of Nav 1...
June 9, 2017: Biology of the Cell
https://www.readbyqxmd.com/read/28593499/in-utero-exposure-to-nicotine-alters-the-development-of-the-rabbit-cardiac-conduction-system-and-provides-a-potential-mechanism-for-sudden-infant-death-syndrome
#18
Anh Tuan Ton, Michael Biet, Jean-Francois Delabre, Nathalie Morin, Robert Dumaine
In-utero exposure to tobacco smoke remains the highest risk factor for sudden infant death syndrome (SIDS). To alleviate the risks, nicotine replacement therapies are often prescribed to women who wish to quit smoking during their pregnancy. Cardiac arrhythmias is considered the final outcome leading to sudden death. Our goal in this study was to determine if exposing rabbit fetus to nicotine altered the cardiac conduction system of newborn kittens in a manner susceptible to cause SIDS. Using neuronal markers and a series of immunohistological and electrophysiological techniques we found that nicotine delayed the development of the cardiac pacemaker center (sinoatrial node) and decreased its innervation...
June 7, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28592292/effects-of-amiodarone-on-short-qt-syndrome-variant-3-in-human-ventricles-a-simulation-study
#19
Cunjin Luo, Kuanquan Wang, Henggui Zhang
BACKGROUND: Short QT syndrome (SQTS) is a newly identified clinical disorder associated with atrial and/or ventricular arrhythmias and increased risk of sudden cardiac death (SCD). The SQTS variant 3 is linked to D172N mutation to the KCNJ2 gene that causes a gain-of-function to the inward rectifier potassium channel current (I K1), which shortens the ventricular action potential duration (APD) and effective refractory period (ERP). Pro-arrhythmogenic effects of SQTS have been characterized, but less is known about the possible pharmacological treatment of SQTS...
June 7, 2017: Biomedical Engineering Online
https://www.readbyqxmd.com/read/28590366/effect-of-gwas-identified-genetic-variants-on-maximum-qt-interval-in-patients-with-schizophrenia-receiving-antipsychotic-agents-a-24-hour-holter-ecg-study
#20
Junzo Watanabe, Naoki Fukui, Yutaro Suzuki, Takuro Sugai, Shin Ono, Nobuto Tsuneyama, Mami Saito, Misuzu Tajiri, Toshiyuki Someya
BACKGROUND: Users of antipsychotics (APs) have a risk of sudden cardiac death (SCD). Sudden cardiac death in such patients is thought to be largely due to drug-induced QT prolongation. It has been reported that many subjects with drug-induced torsades de pointes (TdP) have risk alleles associated with subclinical congenital long QT syndrome. METHODS: We investigated the effects of the risk alleles associated with long QT on the QT interval in patients receiving APs using 24-hour Holter electrocardiograms to take into account the circadian fluctuation of QT intervals...
August 2017: Journal of Clinical Psychopharmacology
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