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Sudden unexplained death

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https://www.readbyqxmd.com/read/29672598/long-qt-molecular-autopsy-in-sudden-unexplained-death-in-the-young-1-40-years-old-lessons-learnt-from-an-eight-year-experience-in-new-zealand
#1
Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Paul Morrow, Tom Donoghue, Amanda Graham, Donald Love, Jonathan R Skinner
BACKGROUND: To review long QT syndrome molecular autopsy results in sudden unexplained death in young (SUDY) between 2006 and 2013 in New Zealand. METHODS: Audit of the LQTS molecular autopsy results, cardiac investigations and family screening data from gene-positive families. RESULTS: During the study period, 365 SUDY cases were referred for molecular autopsy. 128 cases (35%) underwent LQTS genetic testing. 31 likely pathogenic variants were identified in 27 cases (21%); SCN5A (14/31, 45%), KCNH2 (7/31, 22%), KCNQ1 (4/31, 13%), KCNE2 (3/31, 10%), KCNE1 (2/31, 7%), KCNJ2 (1/31, 3%)...
2018: PloS One
https://www.readbyqxmd.com/read/29617167/sudden-infant-death-syndrome-a-global-public-health-issue-and-nursing-s-response
#2
Kelly Pretorius, Lynn Rew
Sudden unexplained death in infancy, including sudden infant death syndrome (SIDS), is a global public health challenge. Despite public health campaigns and efforts, SIDS remains the leading cause of postneonatal mortality in many developed countries. In this article, we review SIDS, describe nursing's unique professional position in addressing this problem, and explore how the principles of social justice can inform nursing's response. Motivated by nursing's ethical and moral obligations, the profession is called to take an active role in educating others regarding this phenomenon, to participate in research, and to develop or advocate for policy that aims to reduce the incidence of SIDS on an international scale...
April 4, 2018: Comprehensive Child and Adolescent Nursing
https://www.readbyqxmd.com/read/29606014/analysis-of-sudden-infant-death-syndrome-coverage-in-canadian-newspapers
#3
Sadia Ahmed, Ian Mitchell, Gregor Wolbring
Sudden infant death syndrome (SIDS; also known as crib death) describes the sudden unexpected death of an infant under one year of age, which remains unexplained after a thorough investigation. SIDS is a public health concern. It is the fourth leading cause of infant death in Canada. Newspapers are a major source of health information for the public, shape public perceptions and can direct the discussion around issues. Despite the potential influence of newspapers, no study has examined the portrayal of SIDS in Canadian newspapers over time...
January 1, 2018: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
https://www.readbyqxmd.com/read/29582881/risk-assessment-of-the-occurrence-of-sudden-death-related-to-hypertrophic-cardiomyopathy-in-dakar
#4
Simon Antoine Sarr, Boubacar Dodo, Kana Babaka, Fatou Aw, Malick Bodian, Mouhamadou Bamba Ndiaye, Adama Kane, Maboury Diao, Serigne Abdou Ba
AIM: The aim of this study was to assess of the risk of sudden death in a population of hypertrophic cardiomyopathy patients in Dakar. METHODS: This was a transverse study at the cardiology clinic of Aristide Le Dantec Hospital from January 2014 to June 2015. We used the European Society of Cardiology risk score to calculate this risk. RESULTS: The average age of patients was 53 years. Unexplained syncope was found in two patients and two others had a family history of sudden death...
January 23, 2018: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/29572929/multiple-genetic-variations-in-sodium-channel-subunits-in-a-case-of-sudden-infant-death-syndrome
#5
Federico Denti, Bo Hjorth Bentzen, Julianne Wojciak, Nancy Mutsaers Thomsen, Melvin Scheinman, Nicole Schmitt
BACKGROUND: Dysfunction of NaV 1.5 encoded by SCN5A accounts for approximately half of the channelopathic SIDS cases. We investigated the functional effect of two gene variants identified in the same patient, one in SCN5A and one in SCN1Bb. The aim of the study was to risk stratify the proband's family. METHODS: The family was referred for cardiovascular genetic evaluation to assess familial risk of cardiac disease. Functional analysis of the identified variants was performed with patch-clamp electrophysiology in HEK293 cells...
March 23, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29536313/value-of-implantable-loop-recorders-in-patients-with-structural-or-electrical-heart-disease
#6
Rafi Sakhi, Dominic A M J Theuns, Rohit E Bhagwandien, Michelle Michels, Arend F L Schinkel, Tamas Szili-Torok, F Zijlstra, Jolien W Roos-Hesselink, Sing-Chien Yap
PURPOSE: In patients with structural heart disease (SHD) or inherited primary arrhythmia syndrome (IPAS), the occurrence of unexplained syncope or palpitations can be worrisome as they are at increased risk of sudden cardiac death. An implantable loop recorder (ILR) can be a useful diagnostic tool. Our purpose was to compare the diagnostic yield, arrhythmia mechanism, and management in patients with SHD, patients with IPAS, and those without heart disease. METHODS: Retrospective single-center study in consecutive patients who underwent an ILR implantation...
March 13, 2018: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/29528859/emerging-implications-of-genetic-testing-in-inherited-primary-arrhythmia-syndromes
#7
Babken Asatryan, Argelia Medeiros-Domingo
Inherited primary arrhythmia syndromes are genetically determined disorders of cardiac ion channels or ion channel macromolecular complexes usually associated with a higher risk of sudden cardiac death. These conditions have a very broad spectrum of clinical manifestations, ranging from an asymptomatic course to syncope, atrial and ventricular arrhythmias, and conduction disturbances, but may produce sudden infant death syndrome and unexplained sudden cardiac death in apparently healthy individuals. During the last 20 years, the evolving knowledge on the genetic basis of inherited arrhythmia syndromes has dramatically reshaped our understanding of these conditions and, consequently, had a great impact on patient care...
March 8, 2018: Cardiology in Review
https://www.readbyqxmd.com/read/29511324/role-of-copy-number-variants-in-sudden-cardiac-death-and-related-diseases-genetic-analysis-and-translation-into-clinical-practice
#8
Jesus Mates, Irene Mademont-Soler, Bernat Del Olmo, Carles Ferrer-Costa, Monica Coll, Alexandra Pérez-Serra, Ferran Picó, Catarina Allegue, Anna Fernandez-Falgueras, Patricia Álvarez, Raquel Yotti, Maria Angeles Espinosa, Georgia Sarquella-Brugada, Sergi Cesar, Ester Carro, Josep Brugada, Elena Arbelo, Pablo Garcia-Pavia, Mar Borregan, Eduardo Tizzano, Amador López-Granados, Francisco Mazuelos, Aranzazu Díaz de Bustamante, Maria Teresa Darnaude, José Ignacio González-Hevia, Felícitas Díaz-Flores, Francisco Trujillo, Anna Iglesias, Francisco Fernandez-Aviles, Oscar Campuzano, Ramon Brugada
Several studies have identified copy number variants (CNVs) as responsible for cardiac diseases associated with sudden cardiac death (SCD), but very few exhaustive analyses in large cohorts of patients have been performed, and they have been generally focused on a specific SCD-related disease. The aim of the present study was to screen for CNVs the most prevalent genes associated with SCD in a large cohort of patients who suffered sudden unexplained death or had an inherited cardiac disease (cardiomyopathy or channelopathy)...
March 6, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29502107/sudden-unexplained-nocturnal-death-syndrome-the-hundred-years-enigma
#9
REVIEW
Jingjing Zheng, Da Zheng, Terry Su, Jianding Cheng
No abstract text is available yet for this article.
March 3, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29500619/reliability-of-the-care-rule-and-the-heart-score-to-rule-out-an-acute-coronary-syndrome-in-non-traumatic-chest-pain-patients
#10
Thomas Moumneh, Vanessa Richard-Jourjon, Emilie Friou, Fabrice Prunier, Caroline Soulie-Chavignon, Jacques Choukroun, Betty Mazet-Guilaumé, Jérémie Riou, Andréa Penaloza, Pierre-Marie Roy
In patients consulting in the Emergency Department for chest pain, a HEART score ≤ 3 has been shown to rule out an acute coronary syndrome (ACS) with a low risk of major adverse cardiac event (MACE) occurrence. A negative CARE rule (≤ 1) that stands for the first four elements of the HEART score may have similar rule-out reliability without troponin assay requirement. We aim to prospectively assess the performance of the CARE rule and of the HEART score to predict MACE in a chest pain population. Prospective two-center non-interventional study...
March 2, 2018: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/29423392/neurochemical-alterations-in-sudden-unexplained-perinatal-deaths-a-review
#11
REVIEW
Nazeer Muhammad, Muhammad Sharif, Javeria Amin, Riffat Mehboob, Syed Amir Gilani, Nargis Bibi, Hasnain Javed, Naseer Ahmed
Sudden unexpected perinatal collapse is a major trauma for the parents of victims. Sudden infant death syndrome (SIDS) is unexpected and mysterious death of an apparently healthy neonate from birth till 1 year of age without any known causes, even after thorough postmortem investigations. However, the incidence of sudden intrauterine unexplained death syndrome (SIUDS) is seven times higher as compared with SIDS. This observation is approximated 40-80%. Stillbirth is defined as death of a fetus after 20th week of gestation or just before delivery at full term without a known reason...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29420859/amygdala-stimulation-induced-apnea-is-attention-and-nasal-breathing-dependent
#12
William P Nobis, Stephen Schuele, Jessica W Templer, Guangyu Zhou, Gregory Lane, Joshua M Rosenow, Christina Zelano
OBJECTIVE: Evidence suggests disordered breathing is critically involved in Sudden unexplained death in epilepsy (SUDEP). To that end, evaluating structures that are activated by seizures and can activate brain regions that produce cardiorespiratory changes can further our understanding of the pathophysiology of SUDEP. Prior preclinical studies have shown that electrical stimulation of the human amygdala induces apnea, suggesting a role for the amygdala in controlling respiration. In this study, we aimed to both confirm these findings in a larger group of patients with intractable temporal lobe epilepsy (TLE) and also further explore the anatomical and cognitive properties of this effect...
February 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29406947/preparticipation-screening-of-young-athletes-identifying-cardiovascular-disease
#13
REVIEW
Kyle P Lammlein, Jonathan M Stoddard, Francis G O'Connor
The most common cause of sudden cardiac death (SCD) in young athletes in the United States is "autopsy-negative sudden unexplained death." This makes it extremely difficult to screen for and diagnose predisposing cardiovascular conditions before athletic participation. The goal of the preparticipation physical examination is to detect risk factors for SCD, make risk-based decisions regarding the need for further workup, and ultimately recommend for or against participation. Current evidence recommends universal screening of young athletes using the 14-point American Heart Association preparticipation cardiovascular checklist...
March 2018: Primary Care
https://www.readbyqxmd.com/read/29398048/risk-of-death-in-infants-who-have-experienced-a-brief-resolved-unexplained-event-a-meta-analysis
#14
Donald A Brand, Melissa J Fazzari
OBJECTIVE: To estimate an upper bound on the risk of death after a brief resolved unexplained event (BRUE), a sudden alteration in an infant's breathing, color, tone, or responsiveness, previously labeled "apparent life-threatening event" (ALTE). STUDY DESIGN: The meta-analysis incorporated observational studies of patients with ALTE that included data on in-hospital and post-discharge deaths with at least 1 week of follow-up after hospital discharge. Pertinent studies were identified from a published review of the literature from 1970 through 2014 and a supplementary PubMed query through February 2017...
February 2, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29357681/corrigendum
#15
(no author information available yet)
Lavezzi, A. M., Ferrero, S., Roncati, L., Piscioli, F., Matturri, L. & Pusiol, T. (2017). Nicotinic receptor abnormalities in the cerebellar cortex of sudden unexplained fetal and infant death victims-possible correlation with maternal smoking. ASN Neuro, 9, 1-10. DOI: 10.1177/1759091417720582 In figure 4, one of the labels mentioned at the bottom of graph is incorrect. Instead of "BDNF-index classes", the label should be " nAChR-index". The correct figure is shown below.
January 2018: ASN Neuro
https://www.readbyqxmd.com/read/29350269/exome-analysis-in-34-sudden-unexplained-death-sud-victims-mainly-identified-variants-in-channelopathy-associated-genes
#16
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden cardiac death (SCD) is one of the major causes of mortality worldwide, mostly involving coronary artery disease in the elderly. In contrary, sudden death events in young victims often represent the first manifestation of undetected genetic cardiac diseases, which remained without any symptoms during lifetime. Approximately 30% of these sudden death cases have no definite cardiac etiology after a comprehensive medicolegal investigation and are therefore termed as sudden unexplained death (SUD) cases. Advances in high-throughput sequencing approaches have provided an efficient diagnostic tool to identify likely pathogenic variants in cardiovascular disease-associated genes in otherwise autopsy-negative SUD cases...
January 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29329111/severe-peri-ictal-respiratory-dysfunction-is-common-in-dravet-syndrome
#17
YuJaung Kim, Eduardo Bravo, Caitlin K Thirnbeck, Lori A Smith-Mellecker, Se Hee Kim, Brian K Gehlbach, Linda C Laux, Xiuqiong Zhou, Douglas R Nordli, George B Richerson
Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. Patients with DS have a high risk of sudden unexplained death in epilepsy (SUDEP), widely believed to be due to cardiac mechanisms. Here we show that patients with DS commonly have peri-ictal respiratory dysfunction. One patient had severe and prolonged postictal hypoventilation during video EEG monitoring and died later of SUDEP. Mice with an Scn1aR1407X/+ loss-of-function mutation were monitored and died after spontaneous and heat-induced seizures due to central apnea followed by progressive bradycardia...
March 1, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29319343/obesity-and-sudden-cardiac-death-in-the-young-clinical-and-pathological-insights-from-a-large-national-registry
#18
Gherardo Finocchiaro, Michael Papadakis, Harshil Dhutia, Della Cole, Elijah R Behr, Maite Tome, Sanjay Sharma, Mary N Sheppard
Aims Obesity is an increasing public health problem and a risk factor for cardiovascular diseases. The aim of the study was to determine the main features and aetiologies in a large cohort of sudden cardiac deaths that occurred in obese subjects. Methods Between 1994 and 2014, 3684 consecutive cases of unexpected sudden cardiac death were referred to our cardiac pathology centre. This study was confined to young individuals (age ≤ 35 years) for whom information about body mass index was available and consisted of 1033 cases...
March 2018: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/29316018/postmortem-icd-interrogation-in-mode-of-death-classification
#19
Theodora Nikolaidou, Miriam J Johnson, Justin M Ghosh, Carl Marincowitz, Saumil Shah, Michael J Lammiman, Richard J Schilling, Andrew L Clark
BACKGROUND: The definition of sudden death due to arrhythmia relies on the time interval between onset of symptoms and death. However, not all sudden deaths are due to arrhythmia. In patients with an implantable cardioverter defibrillator (ICD), postmortem device interrogation may help better distinguish the mode of death compared to a time-based definition alone. OBJECTIVE: This study aims to assess the proportion of "sudden" cardiac deaths in patients with an ICD that have confirmed arrhythmia...
January 8, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29306897/critical-roles-of-xirp-proteins-in-cardiac-conduction-and-their-rare-variants-identified-in-sudden-unexplained-nocturnal-death-syndrome-and-brugada-syndrome-in-chinese-han-population
#20
Lei Huang, Kuo-Ho Wu, Liyong Zhang, Qinchuan Wang, Shuangbo Tang, Qiuping Wu, Pei-Hsiu Jiang, Jim Jung-Ching Lin, Jian Guo, Lin Wang, Shih-Hurng Loh, Jianding Cheng
BACKGROUND: Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative entity with unclear etiology. Arrhythmia has been implicated in SUNDS. Mutations/deficiencies in intercalated disc components have been shown to cause arrhythmias. Human cardiomyopathy-associated 1 (XIRP1) and 3 (XIRP2) are intercalated disc-associated, Xin repeats-containing proteins. Mouse Xirp1 is necessary for the integrity of intercalated disc and for the surface expression of transient outward and delayed rectifier K+ channels, whereas mouse Xirp2 is required for Xirp1 intercalated disc localization...
January 6, 2018: Journal of the American Heart Association
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