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Sudden death syndrome

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https://www.readbyqxmd.com/read/28343764/channelopathies-genetic-testing-and-risk-stratification
#1
Arthur A M Wilde, Ahmad Amin
The cardiac channelopathies are a group of diseases with (disease-) specific electrocardiographic (ECG) characteristics and a disease-specific risk of sudden cardiac death (SCD). This group includes the Long QT Syndromes (LQTS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Brugada Syndrome (BrS), Short QT Syndromes (SQTS), and Early Repolarization Syndrome (ERS). In the past 2 decades the genetic basis for these disease entities has largely been unraveled and that, together with the identification of the genetic basis of the cardiomyopathies, has paved the way for the complete new field of Cardiogenetics...
March 18, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28341588/targeted-next-generation-sequencing-of-51-genes-involved-in-primary-electrical-disease
#2
Dorien Proost, Johan Saenen, Geert Vandeweyer, Annelies Rotthier, Maaike Alaerts, Emeline M Van Craenenbroeck, Joachim Van Crombruggen, Geert Mortier, Wim Wuyts, Christiaan Vrints, Jurgen Del Favero, Bart Loeys, Lut Van Laer
Primary electrical disease (PED) is characterized by cardiac arrhythmias, which can lead to sudden cardiac death in the absence of detectable structural heart disease. PED encompasses a diversity of inherited syndromes, predominantly Brugada syndrome, early repolarization syndrome, long QT syndrome, short QT syndrome, arrhythmogenic right ventricular cardiomyopathy, and catecholaminergic polymorphic ventricular tachycardia. To overcome the diagnostic challenges imposed by the clinical and genetic heterogeneity of PED, we developed a targeted gene panel for next-generation sequencing of 51 PED genes...
March 21, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28339816/post-mortem-toxicology-in-young-sudden-cardiac-death-victims-a-nationwide-cohort-study
#3
Thea Bjune, Bjarke Risgaard, Line Kruckow, Charlotte Glinge, Ole Ingemann-Hansen, Peter Mygind Leth, Kristian Linnet, Jytte Banner, Bo Gregers Winkel, Jacob Tfelt-Hansen
Aims: Several drugs increase the risk of ventricular fibrillation and sudden cardiac death (SCD). We aimed to investigate in detail the toxicological findings of all young SCD throughout Denmark. Methods and results: Deaths in persons aged 1-49 years were included over a 10-year period. Death certificates and autopsy reports were retrieved and read to identify cases of sudden death and establish cause of death. All medico-legal autopsied SCD were included and toxicological reports collected...
February 27, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28330972/fatal-cerebral-edema-with-status-epilepticus-in-children-with-dravet-syndrome-report-of-5-cases
#4
Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer
Dravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with SCN1A mutations and 15% mortality by 20 years. Although over half of cases succumb to sudden unexpected death in epilepsy, the cause of death in the remainder is poorly defined. We describe the clinical, radiologic, and pathologic characteristics of a cohort of children with DS and SCN1A mutations who developed fatal cerebral edema causing mass effect after fever-associated status epilepticus. Cases were identified from a review of children with DS enrolled in the Epilepsy Genetics Research Program at The University of Melbourne, Austin Health, who died after fever-associated status epilepticus...
March 22, 2017: Pediatrics
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
#5
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/28327050/infant-bed-sharing-supporting-parents-to-make-an-informed-decision
#6
Layla Lavallee, Meredith Scannell
The practice of infant bed-sharing remains controversial in countries such as the UK and the US, despite its prevalence, and healthcare professionals are often faced with the task of advising parents on bed-sharing without the support of consistent or up-to-date guidelines. This article explores UK and US recommendations on infant bed-sharing, considering the existing evidence. The possible relationship between infant bed-sharing and sudden infant death syndrome (SIDS) is explored, alongside other factors that may be linked to SIDS...
March 22, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28326201/hyperkalemia-induced-brugada-phenocopy-a-rare-ecg-manifestation
#7
Muhammad Ameen, Ghulam Akbar, Naeem Abbas, Ghazi Mirrani
Brugada syndrome (BrS) is an inherited disorder of cardiac ion channels characterized by peculiar ECG findings predisposing individuals to ventricular arrhythmias, syncope, and sudden cardiac death (SCD). Various electrolyte disturbances and ion channels blocking drugs could also provoke BrS ECG findings without genetic BrS. Clinical differentiation and recognition are essential for guiding the legitimate action. Hyperkalemia is well known to cause a wide variety of ECG manifestations. Severe hyperkalemia can even cause life threatening ventricular arrhythmias and cardiac conduction abnormalities...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28324986/electrocardiographic-waveforms-fitness-check-device-technique-for-sudden-cardiac-death-risk-screening
#8
O J Escalona, M Mendoza
A novel cardiac health device technique development for reliable, non-invasive and cost-effective heart screening in preventive cardiovascular healthcare is presented. In particular, identification of apparently healthy individuals involved in sports activities (particularly in the young, age <; 35 years) who may be at-risk of sudden-cardiac-death (SCD) is mainly focused here. Nevertheless, the same device technique may be prospectively extended for detecting cardiovascular abnormalities in children and adolescents with type1-diabetes, and also in detecting patients with Brugada syndrome...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28323171/acquired-long-qt-syndrome-in-hospitalized-patients
#9
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/28321682/recent-advances-and-clinical-applications-of-pet-cardiac-autonomic-nervous-system-imaging
#10
REVIEW
Nabil E Boutagy, Albert J Sinusas
PURPOSE OF REVIEW: The purpose of this review was to summarize current advances in positron emission tomography (PET) cardiac autonomic nervous system (ANS) imaging, with a specific focus on clinical applications of novel and established tracers. RECENT FINDINGS: [(11)C]-Meta-hydroxyephedrine (HED) has provided useful information in evaluation of normal and pathological cardiovascular function. Recently, [(11)C]-HED PET imaging was able to predict lethal arrhythmias, sudden cardiac death (SCD), and all-cause mortality in heart failure patients with reduced ejection fraction (HFrEF)...
April 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28318662/mid-range-left-ventricular-ejection-fraction-clinical-profile-and-cause-of-death-in-ambulatory-patients-with-chronic-heart-failure
#11
Domingo A Pascual-Figal, Andreu Ferrero-Gregori, Ines Gomez-Otero, Rafael Vazquez, Juan Delgado-Jimenez, Jesus Alvarez-Garcia, Juan R Gimeno-Blanes, Fernando Worner-Diz, Alfredo Bardají, Luis Alonso-Pulpon, Jose Ramon Gonzalez-Juanatey, Juan Cinca
BACKGROUND: The intermediate group of patients with heart failure (HF) and mid-range left ventricular ejection fraction (HFmrEF) may constitute a specific phenotype, but a direct evidence is lacking. This study aimed to know whether this HF category is accompanied by a particular clinical phenotype and prognosis. METHODS AND RESULTS: This study includes 3446 ambulatory patients with chronic HF from two national registries. According to EF at enrollment, patients were classified as reduced (HFrEF, <40%), mid-range (HFmrEF, 40-49%) or preserved (HFpEF, ≥50%)...
March 9, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28316956/sudden-infant-death-syndrome-due-to-long-qt-syndrome-a-brief-review-of-the-genetic-substrate-and-prevalence
#12
REVIEW
Nikolaos S Ioakeimidis, Theodora Papamitsou, Soultana Meditskou, Zafiroula Iakovidou-Kritsi
The pathophysiological mechanisms which lead to sudden infant death syndrome (SIDS) are not completely understood. Cardiac channelopathies are a well-established causative factor with long QT syndrome (LQTS) being the most frequent one, accounting for approximately 12% of SIDS cases. The genetic substrate of the above arrhythmogenic syndrome has been thoroughly described but only specific gene mutations or polymorphisms have been identified as SIDS causative. The review will focus on the prevalence of LQTS-induced SIDS or near-SIDS cases and the mutations held responsible...
December 2017: Journal of Biological Research
https://www.readbyqxmd.com/read/28316113/the-utility-of-exercise-testing-in-risk-stratification-of-asymptomatic-patients-with-type-1-brugada-pattern
#13
Muthiah Subramanian, Mukund A Prabhu, M S Harikrishnan, Saritha S Shekhar, Praveen G Pai, K U Natarajan
INTRODUCTION: Risk stratification of asymptomatic patients with a Brugada type 1 ECG pattern remains an unresolved clinical conundrum. In contrast to provocative pharmacological testing in Brugada syndrome, there is limited data on the role of exercise stress testing as a risk stratification modality. The objective of this study was to evaluate the utility of exercise testing in asymptomatic patients with type 1 Brugada pattern to prognosticate major arrhythmic events(MAE) during follow-up...
March 18, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28315637/trpm4-non-selective-cation-channel-variants-in-long-qt-syndrome
#14
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/28303324/short-qt-syndrome-in-pediatrics
#15
REVIEW
Roberta Pereira, Oscar Campuzano, Georgia Sarquella-Brugada, Sergi Cesar, Anna Iglesias, Josep Brugada, Fernando E S Cruz Filho, Ramon Brugada
Short QT syndrome is a malignant cardiac disease characterized by the presence of ventricular tachyarrhythmias leading to syncope and sudden cardiac death. Currently, international guidelines establish diagnostic criteria when QTc is below 340 ms. This entity is one of the main diseases responsible for sudden cardiac death in the pediatric population. In recent years, clinical, genetic and molecular advances in pathophysiological mechanisms related to short QT syndrome have improved diagnosis, risk stratification, and preventive measures...
March 16, 2017: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/28295538/authorised-access-web-portal-for-italiandata-bank-on-sudden-unexpected-perinatal-and-infant-death
#16
Giulia Ottaviani, Paolo Perlasca, Marco Mesiti, Luca Ferrari, Anna M Lavezzi
Sudden infant death syndrome (SIDS) is common during the first year of life and affects 0.40every 1,000 births (1). Stillbirths are seven times more common than SIDS; in 40-80% of cases remain unexplained and are categorised as sudden intrauterine unexpected death syndrome (2).In 2006 Italy passed legislation that fetuses, and infants, from 25 weeks of gestation to one postnatal year, that died suddenly and unexpectedly should be sent to the University of Milan, Italy, for an in-depth diagnostic post-mortem with parental permission (3)...
March 15, 2017: Acta Paediatrica
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/28290961/kcnq1-gene-variants-in-large-asymptomatic-populations-considerations-for-genomic-screening-of-military-cohorts
#18
Paul Kruszka, Karin Weiss, Donald W Hadley
INTRODUCTION: The advances in genomic technology of large populations make the potential for genomic screening of military cohorts and recruits feasible, affording the potential to identify at-risk individuals before occurrence of potentially life-threatening events. Exploring sudden cardiac death, known to cause significant morbidity and mortality in young military service members, we focused on the most common gene associated with long QT syndrome (LQTS), KCNQ1. MATERIALS AND METHODS: Using the publicly available database Exome Aggregation Consortium as a surrogate for a military population, variants in KCNQ1 were filtered on the basis of population prevalence, classification as a disease mutation in the Human Gene Mutation database, and classification as pathogenic or likely pathogenic in the ClinVar database...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28290897/-the-brugada-syndrome-as-a-cause-of-sudden-death-diagnostics-and-clinical-manifestations-in-children
#19
I M Miklashevich, M A Shkolnikova
The Brugada syndrome is a hereditary potentially arrhythmogenic disease related to the category of channelopathies. It is manifested as syncopal states and sudden death in young people in the absence of structural cardiac disease. The basis of the disease is genetically determined abnormality of function of ionic channels of cardiomyocytes (sodium, potassium, calcium) phenotypically manifesting as sustained or transitory segment-ST elevation and high risk of polymorphic ventricular tachycardia, fibrillation, and sudden death...
October 2016: Kardiologiia
https://www.readbyqxmd.com/read/28290797/-the-brugada-syndrome-in-a-teenager
#20
I M Miklashevich, E V Kuleshova, S A Termosesov, M A Shkolnikova
The Brugada syndrome (BS) belongs to the group of hereditary channelopathies associated with elevated risk of sudden death (SD) in the absence of structural heart diseases. The disorder phenotypically manifests by specific electrocardiographic pattern, associated with ventricular tachycardia (VT). VT can be accompanied by loss of conscience, and after transformation to ventricular fibrillation result in SD. BS is extremely rare among children and adolescents. We present here a clinical case of teenager (age 17 years) with BS manifested by syncopal state at the background of fever...
February 2017: Kardiologiia
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