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https://www.readbyqxmd.com/read/28637118/asymptomatic-chiari-type-i-malformation-should-patients-be-advised-against-participation-in-contact-sports
#1
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
#2
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/28632280/implantable-cardioverter-defibrillators-for-primary-prevention-in-patients-with-ischemic-or-nonischemic-cardiomyopathy-a-systematic-review-and-meta-analysis
#3
Michalina Kolodziejczak, Felicita Andreotti, Mariusz Kowalewski, Antonino Buffon, Marco Matteo Ciccone, Gianfranco Parati, Pietro Scicchitano, Julia M Uminska, Stefano De Servi, Kevin P Bliden, Jacek Kubica, Alessandro Bortone, Filippo Crea, Paul Gurbel, Eliano P Navarese
Background: Implantable cardioverter-defibrillators (ICDs) have a role in preventing cardiac arrest in patients at risk for life-threatening ventricular arrhythmias. Purpose: To compare ICD therapy with conventional care for the primary prevention of death of various causes in adults with ischemic or nonischemic cardiomyopathy. Data Sources: MEDLINE, Cochrane Central Register of Controlled Trials, Google Scholar, and EMBASE databases, as well as several Web sites, from 1 April 1976 through 31 March 2017...
June 27, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28630265/drone-based-automatic-external-defibrillators-for-sudden-death-do-we-need-more-courage-or-more-serenity
#4
EDITORIAL
Daniel B Mark, Steen M Hansen, Monique L Starks, Mary L Cummings
No abstract text is available yet for this article.
June 20, 2017: Circulation
https://www.readbyqxmd.com/read/28629685/sudden-death-in-epilepsy-knowledge-among-pediatric-providers
#5
Madison M Berl, Howard P Goodkin, Barbara L Kroner, Adrian Bumbut, Gardiner Lapham, William Davis Gaillard
A survey of 146 pediatric care providers (PCPs) revealed that 75.3% were unaware that children with epilepsy were at risk of death, specifically from sudden unexpected (or unexplained) death in epilepsy (SUDEP). PCPs assume that the treating neurologist discusses these risks. Increasing PCPs' knowledge of SUDEP will help address the care gap related to informing families about SUDEP.
June 16, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28628284/-coronary-artery-disease-and-sport-practice
#6
REVIEW
A Ancion, J-F Kaux, L Piérard, P Lancellotti
Cardiovascular diseases are responsible for many deaths in our western societies. Practice of sport activities can decrease their occurrence and improve the prognosis of the patients already affected. The practice of a sport, however, presents an increased cardiovascular risk during its realization (sudden death, myocardial infarction, etc.). An assessment of the risk of complication is necessary before allowing patients with ischemic heart disease to practice a sport activity. Sport activities in competitions are discouraged for most patients, but for the majority, recreational activities should be encouraged...
June 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28623036/-arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia-literature-review-and-case-report
#7
William Alejandro Camargo-Ariza, Silvia Juliana Galvis-Blanco, Tatiana Del Pilar Camacho-Enciso, Carlos Alberto Quiroz-Romero, Juan José Bermudez-Echeverry
Arrhythmogenic right ventricular cardiomyopathy/dysplasia is an inherited autosomal dominant pathology with an estimated prevalence of 1:2,500 to 1:5,000, being higher in males (3:1). It is characterized histologically by replacement of cardiomyocytes by fibro-adipose tissue, which predisposes to ventricular arrhythmias, right ventricular failure, and sudden cardiac death. The main goal of treatment is to reduce the risk of sudden death and improve the quality of life of patients. We present the case of a 23 year old woman whose clinical symptoms started with palpitations, chest pain with physical activity, syncope and headache 6 years ago during her first pregnancy...
June 13, 2017: Archivos de Cardiología de México
https://www.readbyqxmd.com/read/28621884/young-athletes-with-ventricular-premature-beats-continuing-or-not-intense-training-and-competition
#8
Attilio Parisi, Eliana Tranchita, Carlo Minganti, Fabio Sperandii, Emanuele Guerra, Leonardo Calò, Paolo Borrione, Fabio Pigozzi
INTRODUCTION: Isolated ventricular premature beats (VPBs) are commonly found during pre-participation screening in athletes. Currently the debate about the role of detraining in reducing the number of VPBs is still open. This study evaluated the arrhythmic risk in a population of young competitive athletes who showed VPBs during eligibility evaluation and that did not undergo detraining but continued practicing competitive sports. METHODS: 3746 consecutive subjects underwent pre-participation screening...
June 16, 2017: Scandinavian Journal of Medicine & Science in Sports
https://www.readbyqxmd.com/read/28620067/allele-specific-silencing-of-mutant-mrna-rescues-ultrastructural-and-arrhythmic-phenotype-in-mice-carriers-of-the-r4496c-mutation-in-the-ryanodine-receptor-gene-ryr2
#9
Rossana Bongianino, Marco Denegri, Andrea Mazzanti, Francesco Lodola, Alessandra Vollero, Simona Boncompagni, Silvia Fasciano, Giulia Rizzo, Damiano Mangione, Serena Barbaro, Alessia Di Fonso, Carlo Napolitano, Alberto Auricchio, Feliciano Protasi, Silvia G Priori
Rationale: Mutations in the cardiac Ryanodine Receptor gene (RYR2) cause dominant Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a leading cause of sudden death in apparently healthy individuals exposed to emotions or physical exercise. Objective: We investigated the efficacy of allele specific silencing by RNA interference to prevent CPVT phenotypical manifestations in our dominant CPVT mice model carriers of the heterozygous mutation R4496C in RYR2Methods and Results: We developed an in vitro mRNA and protein-based assays to screen multiple siRNAs for their ability to selectively silence mutant RYR2-R4496C mRNA over the corresponding wild-type (WT) allele...
June 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28619993/low-extracellular-potassium-prolongs-repolarization-and-evokes-early-afterdepolarization-in-human-induced-pluripotent-stem-cell-derived-cardiomyocytes
#10
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/28616812/biventricular-noncompaction-cardiomyopathy-with-malignant-arrhythmia-as-a-cause-of-sudden-death
#11
Petr Handlos, Tomáš Gruszka, Marie Staňková, Klára Marecová, Marek Joukal
No abstract text is available yet for this article.
June 15, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28614834/left-ventricular-mechanical-reverse-remodelling-not-followed-by-electrical-reverse-remodelling-a-case-report
#12
Sandra Amorim, Raquel Garcia, Teresa Pinho, João Rodrigues, Filipe Macedo, José Silva-Cardoso, M Júlia Maciel
Patients with severely depressed left ventricular ejection fractions (LVEFs) receive implantable cardioverter-defibrillators (ICDs) for the primary prevention of sudden death. However, in some patients, LVEFs may improve or even normalize over time, and these patients would no longer be qualified for ICD implantation based on the original criteria for which they have initially received an ICD. We report a patient with idiopathic dilated cardiomyopathy whose LVEF recovered to normal values after pharmacological therapy...
June 15, 2017: Cardiology
https://www.readbyqxmd.com/read/28614597/esc-sudden-death-risk-model-in-hypertrophic-cardiomyopathy-incremental-value-of-quantitative-contrast-enhanced-cmr-in-intermediate-risk-patients
#13
Rocio Hinojar, José Luis Zamorano, Ariana Gonzalez Gómez, Maria Plaza Martin, Amparo Esteban, Luis Miguel Rincón, Juan Carlos Portugal, José Julio Jimenez Nácher, Covadonga Fernández-Golfín
BACKGROUND: Hypertrophic cardiomyopathy (HCM) remains the most common cause of sudden cardiac death (SCD) in the young; however, current strategies do not identify all HCM patients at risk. A novel validated algorithm was proposed by the last European Society of Cardiology guidelines to guide implantable cardioverter-defibrillator (ICD) therapy. Recently, extensive myocardial fibrosis was independently associated with increased risk of SCD events. This study aimed to establish the relation between myocardial fibrosis (late gadolinium enhancement [LGE] extension) and the novel SCD risk-prediction model in a real population of HCM to evaluate its potential additional value in the different risk groups...
June 14, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28613994/supporting-family-members-to-view-the-body-after-a-violent-or-sudden-death-a-role-for-social-work
#14
Jane Mowll
Supporting family members to view the body of their relative after a traumatic death is a critical role for social workers in hospital and morgue settings; however, this role has had little attention in the literature. In-depth interviews with 48 bereaved family members explored their experiences of helpful and unhelpful aspects of support when viewing the body of their deceased relative. A central theme of "support as a relational interaction" was identified. Aspects of the connection and communication valued by participants within this relational interaction included: "permissions and possibilities," "information and preparation," "presenting with care," "time and timing," and "tuning to family...
June 14, 2017: Journal of Social Work in End-of-life & Palliative Care
https://www.readbyqxmd.com/read/28611030/association-between-mutation-size-and-cardiac-involvement-in-myotonic-dystrophy-type-1-an-analysis-of-the-dm1-heart-registry
#15
Caroline Chong-Nguyen, Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, Hélène Radvanyi-Hoffman, Pauline Arnaud, Denis Furling, Arnaud Lazarus, Guillaume Bassez, Anthony Béhin, Abdallah Fayssoil, Pascal Laforêt, Tanya Stojkovic, Bruno Eymard, Denis Duboc
BACKGROUND: In myotonic dystrophy type 1, the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. METHODS AND RESULTS: We selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 years), with genetic testing performed at the moment of their initial cardiac evaluation, out of 1014 patients included in the Myotonic Dystrophy Type 1-Heart Registry between January 2000 and December 2015...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28602539/causes-of-death-in-atrial-fibrillation-challenges-and-opportunities
#16
REVIEW
Antonio Gómez-Outes, Maria Luisa Suárez-Gea, Jose Manuel García-Pinilla
Atrial fibrillation (AF) is an age-related arrhythmia associated with several co-morbidities and significant mortality. Most AF patients are in need of anticoagulation due to increased risk of stroke. Despite anticoagulation, AF patients still have a significant risk of death (about 5%/y). Approximately half of deaths in AF are due to heart-related causes (i.e., sudden death, heart failure, and myocardial infarction), one-third of deaths are due to non-vascular causes (i.e., cancer, respiratory diseases, and infections) and the remaining AF patients die from stroke or hemorrhage (about 6% each), or other causes...
May 10, 2017: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28602377/end-of-life-care-in-the-treatment-of-heart-failure-in-older-adults
#17
REVIEW
John Arthur McClung
Heart failure presents unique challenges to the clinician who desires to provide excellent and humane care near the end of life. Accurate prediction of mortality in the individual patient is complicated by a chronic disease that is punctuated by recurrent acute episodes and sudden death. Health care providers continue to have difficulty communicating effectively with terminally ill patients and their caregivers regarding end-of-life care preferences, all of which needs to occur earlier rather than later. This article also discusses various means of providing palliative care, and specific issues regarding device therapy, cardiopulmonary resuscitation, and palliative sedation with concurrent discussion of the ethical ramifications and pitfalls of each...
July 2017: Heart Failure Clinics
https://www.readbyqxmd.com/read/28600557/regulatory-functions-of-cellular-energy-sensor-snf1-related-kinase1-for-leaf-senescence-delay-through-ethylene-insensitive3-repression
#18
Geun-Don Kim, Young-Hee Cho, Sang-Dong Yoo
Aging of living organisms is governed by intrinsic developmental programs, of which progression is often under the regulation of their cellular energy status. For example, calorie restriction is known to slow down aging of heterotrophic organisms from yeasts to mammals. In autotrophic plants cellular energy deprivation by perturbation of photosynthesis or sugar metabolism is also shown to induce senescence delay. However, the underlying molecular and biochemical mechanisms remain elusive. Our plant cell-based functional and biochemical assays have demonstrated that SNF1-RELATED KINASE1 (SnRK1) directly interacts, phosphorylates, and destabilizes the key transcription factor ETHYLENE INSENSITIVE3 (EIN3) in senescence-promoting hormone ethylene signaling...
June 9, 2017: Scientific Reports
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
#19
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
#20
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
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