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Sudden unexplained death

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https://www.readbyqxmd.com/read/29423392/neurochemical-alterations-in-sudden-unexplained-perinatal-deaths-a-review
#1
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
#2
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
#3
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
#4
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
#5
(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
#6
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
#7
YuJaung Kim, Eduardo Bravo, Caitlin K Thirnbeck, Lori A Smith-Mellecker, Se Hee Kim, Brian K Gehlbach, Linda C Laux, 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. DS patients have a high risk of sudden unexplained death in epilepsy (SUDEP), believed to be due to cardiac mechanisms. Here we show that DS patients have peri-ictal respiratory dysfunction. One patient who had severe and prolonged postictal hypoventilation later died of SUDEP. Mice with an Scn1aR1407X/+ loss of function mutation died after spontaneous and heat-induced seizures due to central apnea followed by progressive bradycardia...
January 11, 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
#8
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...
January 1, 2018: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/29316018/post-mortem-icd-interrogation-in-mode-of-death-classification
#9
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) post-mortem 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
#10
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
https://www.readbyqxmd.com/read/29275550/-research-progress-of-yunnan-unexplained-sudden-death
#11
REVIEW
Y W He, X Y Zhao, P L Jia, Y Q Zhou, Z Li, X F Zeng, L Li
Yunnan unexplained sudden death (YUSD) has obvious spatial and temporal aggregations. With the features of sudden onset and rapid death, its causes remain unclear. However, the onset of YUSD is related to the geological and climatic conditions in specific range of altitude of incidence area, which is also influenced by the existed susceptibility gene loci or several multiple mutations in SNP loci, long-term fatigue, low dietary nutrition, trace element deficiency, poor living condition and hygienic habit, and infection by etiologic microorganism or virus among the residents live in the incidence area of YUSD...
October 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29274432/a-mouse-model-of-depdc5-related-epilepsy-neuronal-loss-of-depdc5-causes-dysplastic-and-ectopic-neurons-increased-mtor-signaling-and-seizure-susceptibility
#12
Christopher J Yuskaitis, Brandon M Jones, Rachel L Wolfson, Chloe E Super, Sameer C Dhamne, Alexander Rotenberg, David M Sabatini, Mustafa Sahin, Annapurna Poduri
DEPDC5 is a newly identified epilepsy-related gene implicated in focal epilepsy, brain malformations, and Sudden Unexplained Death in Epilepsy (SUDEP). In vitro, DEPDC5 negatively regulates amino acid sensing by the mTOR complex 1 (mTORC1) pathway, but the role of DEPDC5 in neurodevelopment and epilepsy has not been described. No animal model of DEPDC5-related epilepsy has recapitulated the neurological phenotypes seen in patients, and germline knockout rodent models are embryonic lethal. Here, we establish a neuron-specific Depdc5 conditional knockout mouse by cre-recombination under the Synapsin1 promotor...
December 20, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29247119/applying-high-resolution-variant-classification-to-cardiac-arrhythmogenic-gene-testing-in-a-demographically-diverse-cohort-of-sudden-unexplained-deaths
#13
Ying Lin, Nori Williams, Dawei Wang, William Coetzee, Bo Zhou, Lucy S Eng, Sung Yon Um, Ruijun Bao, Orrin Devinsky, Thomas V McDonald, Barbara A Sampson, Yingying Tang
BACKGROUND: Genetic variant interpretation contributes to testing yield differences reported for sudden unexplained death. Adapting a high-resolution variant interpretation framework, which considers disease prevalence, reduced penetrance, genetic heterogeneity, and allelic contribution to determine the maximum tolerated allele count in gnomAD, we report an evaluation of cardiac channelopathy and cardiomyopathy genes in a large, demographically diverse sudden unexplained death cohort that underwent thorough investigation in the United States' largest medical examiner's office...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29242100/takotsubo-is-not-a-cardiomyopathy
#14
Francesco Pelliccia, Gianfranco Sinagra, Perry Elliott, Guido Parodi, Cristina Basso, Paolo G Camici
Unraveling the mechanisms underlying Takotsubo (TTS) leads to question the current inclusion of the condition within the spectrum of cardiomyopathies. Indeed, the clinical presentation and pathophysiology of TTS clearly differ from cardiomyopathies, i.e. diseases of heart muscle unexplained by abnormal loading conditions or coronary artery disease, which cannot recover spontaneously and may cause sudden death often in minimally symptomatic individuals or result in a gradual deterioration in ventricular function and end-stage heart failure...
December 9, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29231014/-correlation-between-genetic-variants-and-polymorphism-of-caveolin-and-sudden-unexplained-death
#15
F Y Wu, X H Tang, L L Gai, X P Kong, B Hao, E W Huang, H Shi, L H Sheng, L Quan, S P Liu, B Luo
OBJECTIVES: To explore the genetic variation sites of caveolin (CAV) and their correlation with sudden unexplained death (SUD). METHODS: The blood samples were collected from SUD group (71 cases), coronary artery disease (CAD) group (62 cases) and control group (60 cases), respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PCR...
April 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29231011/-research-progress-of-the-relationship-between-sunds-and-osahs
#16
REVIEW
Y D Wu, L Y Zhang, J D Cheng
Sudden unexplained nocturnal death syndrome (SUNDS) is always a difficulty in forensic medicine researches. Although the development of molecular genetics promotes the etiologic study of SUNDS, the pathogenesis of most such cases is still unclear. Sleep apnea syndrome (SAS) is one of the common forms of sleep disorders, and obstructive sleep apnea hypopnea syndrome (OSAHS) is the most common. In recent years, some domestic and international researches show that OSAHS is related to the development of cardiovascular disease, which may cause cardiac arrhythmia, even sudden death...
February 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29228435/review-of-recent-advances-in-the-management-of-hypertrophic-cardiomyopathy
#17
Y Cao, P-Y Zhang
Hypertrophic cardiomyopathy (HCM) is a complex but common monogenic cardiovascular disorder characterized by unexplained non dilated left ventricular (LV) thickening in the absence of another cardiac or systemic disease. The condition is associated with sudden and unexpected death in young individuals including trained athletes. HCM represents a genetic disorder caused by mutations in genes encoding sarcomeric proteins of the cardiac myocyte. This review article discusses the genetics behind HCM, its clinical presentation, and diagnosis and the present-day pharmacological management of HCM...
November 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29194874/late-onset-severe-long-qt-syndrome
#18
Babken Asatryan, André Schaller, Deborah Bartholdi, Argelia Medeiros-Domingo
We report a case of torsades de pointes arrhythmia as the first manifestation of congenital Long QT syndrome in a 77-year-old man with family history of sudden unexplained death. This case illustrates the importance of vigilant clinical assessment and genetic counseling in families with sudden death in order to identify properly asymptomatic relatives at risk for cardiac events. It also demonstrates that Long QT syndrome can still manifest with potentially fatal arrhythmias late in life in previously asymptomatic elderly patients...
November 30, 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/29171006/bad-knockout-provides-metabolic-seizure-resistance-in-a-genetic-model-of-epilepsy-with-sudden-unexplained-death-in-epilepsy
#19
Jeannine Foley, Veronica Burnham, Meghan Tedoldi, Nika N Danial, Gary Yellen
Metabolic alteration, either through the ketogenic diet (KD) or by genetic alteration of the BAD protein, can produce seizure protection in acute chemoconvulsant models of epilepsy. To assess the seizure-protective role of knocking out (KO) the Bad gene in a chronic epilepsy model, we used the Kcna1-/- model of epilepsy, which displays progressively increased seizure severity and recapitulates the early death seen in sudden unexplained death in epilepsy (SUDEP). Beginning on postnatal day 24 (P24), we continuously video monitored Kcna1-/- and Kcna1-/- Bad-/- double knockout mice to assess survival and seizure severity...
November 23, 2017: Epilepsia
https://www.readbyqxmd.com/read/29140804/exploration-of-predictive-biomarkers-for-sudden-unexplained-cardiac-death-in-nonelderly-people-a-case-control-study-with-biochemical-parameters-related-to-heart-failure
#20
Sakai Kentaro, Iwadate Kimiharu, Matsumoto Sari, Takasu Shojiro, Kanto Yuko
Sudden unexplained cardiac death (SUCD) can occasionally occur in nonelderly patients with epilepsy, psychiatric disorders, or no medical history. This study was conducted to aim to analyze whether values of the biomarkers for heart failure are associated with the SUCD. Serum concentrations of N-terminal probrain natriuretic peptide, high-sensitivity C-reactive protein (hs-CRP), and tumor necrosis factor α were analyzed in 57 nonelderly patients with SUCD who was diagnosed at medicolegal autopsy. The subjects were divided into 3 subgroups according to the medical history: (1) epilepsy, (2) psychiatric disorders, and (3) no specific medical history...
November 15, 2017: American Journal of Forensic Medicine and Pathology
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